| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32337909_32337910del | CA018315 | BRCA2 | c.3554_3555del (p.Thr1185SerfsTer2) c.3185_3186del (p.Thr1062SerfsTer2) n.3554_3555del | ClinVar dbSNP |
| 13 | g.32337908_32337918delinsACAGTTGAAAT | CA2082818319 | BRCA2 | c.3553_3563delinsACAGTTGAAAT (p.Thr1185=) c.3184_3194delinsACAGTTGAAAT (p.Thr1062=) n.3553_3563delinsACAGTTGAAAT | |
| 13 | g.32337909_32337918del | CA018321 | BRCA2 | c.3554_3563del (p.Thr1185IlefsTer9) c.3185_3194del (p.Thr1062IlefsTer9) n.3554_3563del | ClinVar dbSNP |
| 13 | g.32337909_32337919delinsCAGTTGAAATT | CA2082818338 | BRCA2 | c.3554_3564delinsCAGTTGAAATT (p.Thr1185=) c.3185_3195delinsCAGTTGAAATT (p.Thr1062=) n.3554_3564delinsCAGTTGAAATT | |
| 13 | g.32337910A= | CA2082818355 | BRCA2 | c.3555A= (p.Thr1185=) c.3186A= (p.Thr1062=) n.3555A= | |
| 13 | g.32337910A>C | CA483437611 | BRCA2 | c.3555A>C (p.Thr1185=) c.3186A>C (p.Thr1062=) n.3555A>C | |
| 13 | g.32337910A>G | CA10579582 | BRCA2 | c.3555A>G (p.Thr1185=) c.3186A>G (p.Thr1062=) n.3555A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337910A>T | CA483437612 | BRCA2 | c.3555A>T (p.Thr1185=) c.3186A>T (p.Thr1062=) n.3555A>T | ClinVar dbSNP |
| 13 | g.32337910_32337911delinsAG | CA2082818353 | BRCA2 | c.3555_3556delinsAG (p.Thr1185=) c.3186_3187delinsAG (p.Thr1062=) n.3555_3556delinsAG | |
| 13 | g.32337911_32337920del | CA018331 | BRCA2 | c.3556_3565del (p.Val1186AsnfsTer8) c.3187_3196del (p.Val1063AsnfsTer8) n.3556_3565del | ClinVar dbSNP |
| 13 | g.32337911G>A | CA018342 | BRCA2 | c.3556G>A (p.Val1186Ile) c.3187G>A (p.Val1063Ile) n.3556G>A | ClinVar dbSNP |
| 13 | g.32337911G>C | CA387777255 | BRCA2 | c.3556G>C (p.Val1186Leu) c.3187G>C (p.Val1063Leu) n.3556G>C | dbSNP |
| 13 | g.32337911G= | CA2082818372 | BRCA2 | c.3556G= (p.Val1186=) c.3187G= (p.Val1063=) n.3556G= | |
| 13 | g.32337911G>T | CA387777256 | BRCA2 | c.3556G>T (p.Val1186Phe) c.3187G>T (p.Val1063Phe) n.3556G>T | |
| 13 | g.32337911delinsTTACAA | CA915948454 | BRCA2 | c.3556delinsTTACAA (p.Val1186LeufsTer13) c.3187delinsTTACAA (p.Val1063LeufsTer13) n.3556delinsTTACAA | ClinVar dbSNP |
| 13 | g.32337912T>A | CA387777259 | BRCA2 | c.3557T>A (p.Val1186Asp) c.3188T>A (p.Val1063Asp) n.3557T>A | ClinVar dbSNP |
| 13 | g.32337912T>C | CA6940703 | BRCA2 | c.3557T>C (p.Val1186Ala) c.3188T>C (p.Val1063Ala) n.3557T>C | dbSNP ExAC gnomAD v2 |
| 13 | g.32337912T>G | CA387777263 | BRCA2 | c.3557T>G (p.Val1186Gly) c.3188T>G (p.Val1063Gly) n.3557T>G | |
| 13 | g.32337912T= | CA2082818381 | BRCA2 | c.3557T= (p.Val1186=) c.3188T= (p.Val1063=) n.3557T= | |
| 13 | g.32337913T>A | CA483437613 | BRCA2 | c.3558T>A (p.Val1186=) c.3189T>A (p.Val1063=) n.3558T>A | dbSNP |
| 13 | g.32337913T>C | CA483437615 | BRCA2 | c.3558T>C (p.Val1186=) c.3189T>C (p.Val1063=) n.3558T>C | ClinVar dbSNP |
| 13 | g.32337913T>G | CA483437614 | BRCA2 | c.3558T>G (p.Val1186=) c.3189T>G (p.Val1063=) n.3558T>G | dbSNP |
| 13 | g.32337913T= | CA2082818390 | BRCA2 | c.3558T= (p.Val1186=) c.3189T= (p.Val1063=) n.3558T= | |
| 13 | g.32337914G>A | CA387777270 | BRCA2 | c.3559G>A (p.Glu1187Lys) c.3190G>A (p.Glu1064Lys) n.3559G>A | dbSNP |
| 13 | g.32337914G>C | CA387777268 | BRCA2 | c.3559G>C (p.Glu1187Gln) c.3190G>C (p.Glu1064Gln) n.3559G>C | dbSNP |
| 13 | g.32337914G= | CA2082818399 | BRCA2 | c.3559G= (p.Glu1187=) c.3190G= (p.Glu1064=) n.3559G= | |
| 13 | g.32337914G>T | CA387777265 | BRCA2 | c.3559G>T (p.Glu1187Ter) c.3190G>T (p.Glu1064Ter) n.3559G>T | dbSNP |
| 13 | g.32337915A>C | CA387777273 | BRCA2 | c.3560A>C (p.Glu1187Ala) c.3191A>C (p.Glu1064Ala) n.3560A>C | ClinVar |
| 13 | g.32337915A>G | CA387777275 | BRCA2 | c.3560A>G (p.Glu1187Gly) c.3191A>G (p.Glu1064Gly) n.3560A>G | dbSNP |
| 13 | g.32337915A>T | CA387777277 | BRCA2 | c.3560A>T (p.Glu1187Val) c.3191A>T (p.Glu1064Val) n.3560A>T | dbSNP |
| 13 | g.32337916A>C | CA387777279 | BRCA2 | c.3561A>C (p.Glu1187Asp) c.3192A>C (p.Glu1064Asp) n.3561A>C | |
| 13 | g.32337916A>G | CA483437616 | BRCA2 | c.3561A>G (p.Glu1187=) c.3192A>G (p.Glu1064=) n.3561A>G | dbSNP |
| 13 | g.32337916A>T | CA387777282 | BRCA2 | c.3561A>T (p.Glu1187Asp) c.3192A>T (p.Glu1064Asp) n.3561A>T | |
| 13 | g.32337917A= | CA2082818406 | BRCA2 | c.3562A= (p.Ile1188=) c.3193A= (p.Ile1065=) n.3562A= | |
| 13 | g.32337917A>C | CA387777284 | BRCA2 | c.3562A>C (p.Ile1188Leu) c.3193A>C (p.Ile1065Leu) n.3562A>C | |
| 13 | g.32337917A>G | CA018345 | BRCA2 | c.3562A>G (p.Ile1188Val) c.3193A>G (p.Ile1065Val) n.3562A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337917A>T | CA387777290 | BRCA2 | c.3562A>T (p.Ile1188Phe) c.3193A>T (p.Ile1065Phe) n.3562A>T | |
| 13 | g.32337918T>A | CA387777292 | BRCA2 | c.3563T>A (p.Ile1188Asn) c.3194T>A (p.Ile1065Asn) n.3563T>A | dbSNP |
| 13 | g.32337918T>C | CA387777295 | BRCA2 | c.3563T>C (p.Ile1188Thr) c.3194T>C (p.Ile1065Thr) n.3563T>C | ClinVar dbSNP |
| 13 | g.32337918T>G | CA387777296 | BRCA2 | c.3563T>G (p.Ile1188Ser) c.3194T>G (p.Ile1065Ser) n.3563T>G | |
| 13 | g.32337918_32337922delinsTTAAA | CA2082818415 | BRCA2 | c.3563_3567delinsTTAAA (p.Ile1188=) c.3194_3198delinsTTAAA (p.Ile1065=) n.3563_3567delinsTTAAA | |
| 13 | g.32337919T>A | CA483437618 | BRCA2 | c.3564T>A (p.Ile1188=) c.3195T>A (p.Ile1065=) n.3564T>A | |
| 13 | g.32337919T>C | CA483437617 | BRCA2 | c.3564T>C (p.Ile1188=) c.3195T>C (p.Ile1065=) n.3564T>C | ClinVar |
| 13 | g.32337919T>G | CA387777301 | BRCA2 | c.3564T>G (p.Ile1188Met) c.3195T>G (p.Ile1065Met) n.3564T>G | |
| 13 | g.32337919_32337922del | CA10589211 | BRCA2 | c.3564_3567del (p.Lys1189GlyfsTer7) c.3195_3198del (p.Lys1066GlyfsTer7) n.3564_3567del | ClinVar dbSNP |
| 13 | g.32337920A>C | CA387777303 | BRCA2 | c.3565A>C (p.Lys1189Gln) c.3196A>C (p.Lys1066Gln) n.3565A>C | |
| 13 | g.32337920A>G | CA387777306 | BRCA2 | c.3565A>G (p.Lys1189Glu) c.3196A>G (p.Lys1066Glu) n.3565A>G | dbSNP |
| 13 | g.32337920A>T | CA387777307 | BRCA2 | c.3565A>T (p.Lys1189Ter) c.3196A>T (p.Lys1066Ter) n.3565A>T | dbSNP |
| 13 | g.32337922dup | CA2695199695 | BRCA2 | c.3567dup (p.Arg1190ThrfsTer10) c.3198dup (p.Arg1067ThrfsTer10) n.3567dup | ClinVar |
| 13 | g.32337921A= | CA2082818429 | BRCA2 | c.3566A= (p.Lys1189=) c.3197A= (p.Lys1066=) n.3566A= | |
| 13 | g.32337921A>C | CA387777309 | BRCA2 | c.3566A>C (p.Lys1189Thr) c.3197A>C (p.Lys1066Thr) n.3566A>C | ClinVar dbSNP |
| 13 | g.32337921A>G | CA387777312 | BRCA2 | c.3566A>G (p.Lys1189Arg) c.3197A>G (p.Lys1066Arg) n.3566A>G | dbSNP |
| 13 | g.32337921A>T | CA387777314 | BRCA2 | c.3566A>T (p.Lys1189Ile) c.3197A>T (p.Lys1066Ile) n.3566A>T | ClinVar dbSNP |
| 13 | g.32337922A>C | CA387777319 | BRCA2 | c.3567A>C (p.Lys1189Asn) c.3198A>C (p.Lys1066Asn) n.3567A>C | |
| 13 | g.32337922A>G | CA483437619 | BRCA2 | c.3567A>G (p.Lys1189=) c.3198A>G (p.Lys1066=) n.3567A>G | ClinVar dbSNP |
| 13 | g.32337922A>T | CA387777317 | BRCA2 | c.3567A>T (p.Lys1189Asn) c.3198A>T (p.Lys1066Asn) n.3567A>T | dbSNP |
| 13 | g.32337923del | CA2580087093 | BRCA2 | c.3568del (p.Arg1190GlyfsTer7) c.3199del (p.Arg1067GlyfsTer7) n.3568del | ClinVar |
| 13 | g.32337923C>A | CA483437620 | BRCA2 | c.3568C>A (p.Arg1190=) c.3199C>A (p.Arg1067=) n.3568C>A | dbSNP |
| 13 | g.32337923C= | CA2082818435 | BRCA2 | c.3568C= (p.Arg1190=) c.3199C= (p.Arg1067=) n.3568C= | |
| 13 | g.32337923C>G | CA387777321 | BRCA2 | c.3568C>G (p.Arg1190Gly) c.3199C>G (p.Arg1067Gly) n.3568C>G | dbSNP |
| 13 | g.32337923C>T | CA018352 | BRCA2 | c.3568C>T (p.Arg1190Trp) c.3199C>T (p.Arg1067Trp) n.3568C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.32337923_32337924delinsCG | CA2082818441 | BRCA2 | c.3568_3569delinsCG (p.Arg1190=) c.3199_3200delinsCG (p.Arg1067=) n.3568_3569delinsCG | |
| 13 | g.32337924G>A | CA018360 | BRCA2 | c.3569G>A (p.Arg1190Gln) c.3200G>A (p.Arg1067Gln) n.3569G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337924G>C | CA387777326 | BRCA2 | c.3569G>C (p.Arg1190Pro) c.3200G>C (p.Arg1067Pro) n.3569G>C | dbSNP |
| 13 | g.32337924G= | CA2082818453 | BRCA2 | c.3569G= (p.Arg1190=) c.3200G= (p.Arg1067=) n.3569G= | |
| 13 | g.32337924G>T | CA387777328 | BRCA2 | c.3569G>T (p.Arg1190Leu) c.3200G>T (p.Arg1067Leu) n.3569G>T | ClinVar dbSNP |
| 13 | g.32337925dup | CA2695218187 | BRCA2 | c.3570dup (p.Lys1191GlufsTer9) c.3201dup (p.Lys1068GlufsTer9) n.3570dup | |
| 13 | g.32337925del | CA018365 | BRCA2 | c.3570del (p.Lys1191SerfsTer6) c.3201del (p.Lys1068SerfsTer6) n.3570del | ClinVar dbSNP |
| 13 | g.32337925G>A | CA483437621 | BRCA2 | c.3570G>A (p.Arg1190=) c.3201G>A (p.Arg1067=) n.3570G>A | ClinVar dbSNP |
| 13 | g.32337925G>C | CA483437622 | BRCA2 | c.3570G>C (p.Arg1190=) c.3201G>C (p.Arg1067=) n.3570G>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337925G= | CA2082818466 | BRCA2 | c.3570G= (p.Arg1190=) c.3201G= (p.Arg1067=) n.3570G= | |
| 13 | g.32337925G>T | CA483437623 | BRCA2 | c.3570G>T (p.Arg1190=) c.3201G>T (p.Arg1067=) n.3570G>T | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 13 | g.32337926A>C | CA387777331 | BRCA2 | c.3571A>C (p.Lys1191Gln) c.3202A>C (p.Lys1068Gln) n.3571A>C | |
| 13 | g.32337926A>G | CA387777334 | BRCA2 | c.3571A>G (p.Lys1191Glu) c.3202A>G (p.Lys1068Glu) n.3571A>G | |
| 13 | g.32337926A>T | CA387777333 | BRCA2 | c.3571A>T (p.Lys1191Ter) c.3202A>T (p.Lys1068Ter) n.3571A>T | |
| 13 | g.32337927del | CA2499222136 | BRCA2 | c.3572del (p.Lys1191SerfsTer6) c.3203del (p.Lys1068SerfsTer6) n.3572del | ClinVar |
| 13 | g.32337927A= | CA2082818476 | BRCA2 | c.3572A= (p.Lys1191=) c.3203A= (p.Lys1068=) n.3572A= | |
| 13 | g.32337927A>C | CA387777337 | BRCA2 | c.3572A>C (p.Lys1191Thr) c.3203A>C (p.Lys1068Thr) n.3572A>C | |
| 13 | g.32337927A>G | CA387777339 | BRCA2 | c.3572A>G (p.Lys1191Arg) c.3203A>G (p.Lys1068Arg) n.3572A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337927A>T | CA387777341 | BRCA2 | c.3572A>T (p.Lys1191Met) c.3203A>T (p.Lys1068Met) n.3572A>T | dbSNP |
| 13 | g.32337928G>A | CA483437624 | BRCA2 | c.3573G>A (p.Lys1191=) c.3204G>A (p.Lys1068=) n.3573G>A | ClinVar dbSNP |
| 13 | g.32337928G>C | CA387777344 | BRCA2 | c.3573G>C (p.Lys1191Asn) c.3204G>C (p.Lys1068Asn) n.3573G>C | dbSNP COSMIC COSMIC |
| 13 | g.32337928G= | CA2082818488 | BRCA2 | c.3573G= (p.Lys1191=) c.3204G= (p.Lys1068=) n.3573G= | |
| 13 | g.32337928G>T | CA387777346 | BRCA2 | c.3573G>T (p.Lys1191Asn) c.3204G>T (p.Lys1068Asn) n.3573G>T | |
| 13 | g.32337929T>A | CA387777349 | BRCA2 | c.3574T>A (p.Phe1192Ile) c.3205T>A (p.Phe1069Ile) n.3574T>A | dbSNP |
| 13 | g.32337929T>C | CA387777351 | BRCA2 | c.3574T>C (p.Phe1192Leu) c.3205T>C (p.Phe1069Leu) n.3574T>C | dbSNP |
| 13 | g.32337929T>G | CA387777353 | BRCA2 | c.3574T>G (p.Phe1192Val) c.3205T>G (p.Phe1069Val) n.3574T>G | dbSNP |
| 13 | g.32337930T>A | CA387777356 | BRCA2 | c.3575T>A (p.Phe1192Tyr) c.3206T>A (p.Phe1069Tyr) n.3575T>A | dbSNP |
| 13 | g.32337930T>C | CA387777358 | BRCA2 | c.3575T>C (p.Phe1192Ser) c.3206T>C (p.Phe1069Ser) n.3575T>C | |
| 13 | g.32337930T>G | CA018368 | BRCA2 | c.3575T>G (p.Phe1192Cys) c.3206T>G (p.Phe1069Cys) n.3575T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.32337930T= | CA2082818503 | BRCA2 | c.3575T= (p.Phe1192=) c.3206T= (p.Phe1069=) n.3575T= | |
| 13 | g.32337931T>A | CA387777361 | BRCA2 | c.3576T>A (p.Phe1192Leu) c.3207T>A (p.Phe1069Leu) n.3576T>A | ClinVar dbSNP |
| 13 | g.32337931T>C | CA483437626 | BRCA2 | c.3576T>C (p.Phe1192=) c.3207T>C (p.Phe1069=) n.3576T>C | |
| 13 | g.32337931T>G | CA387777363 | BRCA2 | c.3576T>G (p.Phe1192Leu) c.3207T>G (p.Phe1069Leu) n.3576T>G | |
| 13 | g.32337932G>A | CA387777366 | BRCA2 | c.3577G>A (p.Ala1193Thr) c.3208G>A (p.Ala1070Thr) n.3577G>A | ClinVar dbSNP |
| 13 | g.32337932G>C | CA387777368 | BRCA2 | c.3577G>C (p.Ala1193Pro) c.3208G>C (p.Ala1070Pro) n.3577G>C | dbSNP gnomAD v4 |
| 13 | g.32337932G= | CA2082818515 | BRCA2 | c.3577G= (p.Ala1193=) c.3208G= (p.Ala1070=) n.3577G= | |
| 13 | g.32337932G>T | CA387777371 | BRCA2 | c.3577G>T (p.Ala1193Ser) c.3208G>T (p.Ala1070Ser) n.3577G>T | ClinVar dbSNP |
| 13 | g.32337933C>A | CA387777373 | BRCA2 | c.3578C>A (p.Ala1193Asp) c.3209C>A (p.Ala1070Asp) n.3578C>A | |
| 13 | g.32337933C= | CA2082818524 | BRCA2 | c.3578C= (p.Ala1193=) c.3209C= (p.Ala1070=) n.3578C= | |
| 13 | g.32337933C>G | CA387777375 | BRCA2 | c.3578C>G (p.Ala1193Gly) c.3209C>G (p.Ala1070Gly) n.3578C>G | dbSNP |
| 13 | g.32337933C>T | CA018374 | BRCA2 | c.3578C>T (p.Ala1193Val) c.3209C>T (p.Ala1070Val) n.3578C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337934T>A | CA483437630 | BRCA2 | c.3579T>A (p.Ala1193=) c.3210T>A (p.Ala1070=) n.3579T>A | |
| 13 | g.32337934T>C | CA483437628 | BRCA2 | c.3579T>C (p.Ala1193=) c.3210T>C (p.Ala1070=) n.3579T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337934T>G | CA483437629 | BRCA2 | c.3579T>G (p.Ala1193=) c.3210T>G (p.Ala1070=) n.3579T>G | |
| 13 | g.32337934T= | CA2082818533 | BRCA2 | c.3579T= (p.Ala1193=) c.3210T= (p.Ala1070=) n.3579T= | |
| 13 | g.32337935G>A | CA387777383 | BRCA2 | c.3580G>A (p.Gly1194Ser) c.3211G>A (p.Gly1071Ser) n.3580G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337935G>C | CA387777381 | BRCA2 | c.3580G>C (p.Gly1194Arg) c.3211G>C (p.Gly1071Arg) n.3580G>C | dbSNP |
| 13 | g.32337935G>T | CA387777379 | BRCA2 | c.3580G>T (p.Gly1194Cys) c.3211G>T (p.Gly1071Cys) n.3580G>T | dbSNP |
| 13 | g.32337936G>A | CA018377 | BRCA2 | c.3581G>A (p.Gly1194Asp) c.3212G>A (p.Gly1071Asp) n.3581G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337936G>C | CA387777386 | BRCA2 | c.3581G>C (p.Gly1194Ala) c.3212G>C (p.Gly1071Ala) n.3581G>C | dbSNP |
| 13 | g.32337936G= | CA2082818540 | BRCA2 | c.3581G= (p.Gly1194=) c.3212G= (p.Gly1071=) n.3581G= | |
| 13 | g.32337936G>T | CA387777389 | BRCA2 | c.3581G>T (p.Gly1194Val) c.3212G>T (p.Gly1071Val) n.3581G>T | dbSNP |
| 13 | g.32337937C>A | CA483437633 | BRCA2 | c.3582C>A (p.Gly1194=) c.3213C>A (p.Gly1071=) n.3582C>A | dbSNP |
| 13 | g.32337937C= | CA2082818557 | BRCA2 | c.3582C= (p.Gly1194=) c.3213C= (p.Gly1071=) n.3582C= | |
| 13 | g.32337937C>G | CA6940704 | BRCA2 | c.3582C>G (p.Gly1194=) c.3213C>G (p.Gly1071=) n.3582C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32337937C>T | CA483437634 | BRCA2 | c.3582C>T (p.Gly1194=) c.3213C>T (p.Gly1071=) n.3582C>T | ClinVar dbSNP |
| 13 | g.32337938C>A | CA10583091 | BRCA2 | c.3583C>A (p.Leu1195Met) c.3214C>A (p.Leu1072Met) n.3583C>A | ClinVar dbSNP |
| 13 | g.32337938C= | CA2082818562 | BRCA2 | c.3583C= (p.Leu1195=) c.3214C= (p.Leu1072=) n.3583C= | |
| 13 | g.32337938C>G | CA387777397 | BRCA2 | c.3583C>G (p.Leu1195Val) c.3214C>G (p.Leu1072Val) n.3583C>G | ClinVar dbSNP |
| 13 | g.32337938C>T | CA483437635 | BRCA2 | c.3583C>T (p.Leu1195=) c.3214C>T (p.Leu1072=) n.3583C>T | dbSNP |
| 13 | g.32337939del | CA2580087099 | BRCA2 | c.3584del (p.Leu1195ArgfsTer2) c.3215del (p.Leu1072ArgfsTer2) n.3584del | ClinVar |
| 13 | g.32337939T>A | CA387777399 | BRCA2 | c.3584T>A (p.Leu1195Gln) c.3215T>A (p.Leu1072Gln) n.3584T>A | dbSNP |
| 13 | g.32337939T>C | CA387777404 | BRCA2 | c.3584T>C (p.Leu1195Pro) c.3215T>C (p.Leu1072Pro) n.3584T>C | gnomAD v4 |
| 13 | g.32337939T>G | CA387777402 | BRCA2 | c.3584T>G (p.Leu1195Arg) c.3215T>G (p.Leu1072Arg) n.3584T>G | dbSNP |
| 13 | g.32337940G>A | CA483437636 | BRCA2 | c.3585G>A (p.Leu1195=) c.3216G>A (p.Leu1072=) n.3585G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337940G>C | CA483437637 | BRCA2 | c.3585G>C (p.Leu1195=) c.3216G>C (p.Leu1072=) n.3585G>C | dbSNP gnomAD v4 |
| 13 | g.32337940G>T | CA483437638 | BRCA2 | c.3585G>T (p.Leu1195=) c.3216G>T (p.Leu1072=) n.3585G>T | ClinVar |
| 13 | g.32337941T>A | CA387777406 | BRCA2 | c.3586T>A (p.Leu1196Met) c.3217T>A (p.Leu1073Met) n.3586T>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337941T>C | CA483437640 | BRCA2 | c.3586T>C (p.Leu1196=) c.3217T>C (p.Leu1073=) n.3586T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337941T>G | CA387777408 | BRCA2 | c.3586T>G (p.Leu1196Val) c.3217T>G (p.Leu1073Val) n.3586T>G | dbSNP |
| 13 | g.32337941T= | CA2082818573 | BRCA2 | c.3586T= (p.Leu1196=) c.3217T= (p.Leu1073=) n.3586T= | |
| 13 | g.32337942T>A | CA387777410 | BRCA2 | c.3587T>A (p.Leu1196Ter) c.3218T>A (p.Leu1073Ter) n.3587T>A | dbSNP |
| 13 | g.32337942T>C | CA387777412 | BRCA2 | c.3587T>C (p.Leu1196Ser) c.3218T>C (p.Leu1073Ser) n.3587T>C | |
| 13 | g.32337942T>G | CA387777415 | BRCA2 | c.3587T>G (p.Leu1196Trp) c.3218T>G (p.Leu1073Trp) n.3587T>G | |
| 13 | g.32337943G>A | CA6940705 | BRCA2 | c.3588G>A (p.Leu1196=) c.3219G>A (p.Leu1073=) n.3588G>A | ClinVar dbSNP ExAC gnomAD v2 |
| 13 | g.32337943G>C | CA387777417 | BRCA2 | c.3588G>C (p.Leu1196Phe) c.3219G>C (p.Leu1073Phe) n.3588G>C | |
| 13 | g.32337943G= | CA2082818588 | BRCA2 | c.3588G= (p.Leu1196=) c.3219G= (p.Leu1073=) n.3588G= | |
| 13 | g.32337943G>T | CA387777419 | BRCA2 | c.3588G>T (p.Leu1196Phe) c.3219G>T (p.Leu1073Phe) n.3588G>T | |
| 13 | g.32337943_32337944delinsGA | CA2082818581 | BRCA2 | c.3588_3589delinsGA (p.Leu1196=) c.3219_3220delinsGA (p.Leu1073=) n.3588_3589delinsGA | |
| 13 | g.32337944A= | CA2082818601 | BRCA2 | c.3589A= (p.Lys1197=) c.3220A= (p.Lys1074=) n.3589A= | |
| 13 | g.32337944A>C | CA387777422 | BRCA2 | c.3589A>C (p.Lys1197Gln) c.3220A>C (p.Lys1074Gln) n.3589A>C | dbSNP |
| 13 | g.32337944A>G | CA387777425 | BRCA2 | c.3589A>G (p.Lys1197Glu) c.3220A>G (p.Lys1074Glu) n.3589A>G | ClinVar dbSNP |
| 13 | g.32337944A>T | CA387777426 | BRCA2 | c.3589A>T (p.Lys1197Ter) c.3220A>T (p.Lys1074Ter) n.3589A>T | dbSNP |
| 13 | g.32337948dup | CA280072 | BRCA2 | c.3593dup (p.Asn1198LysfsTer2) c.3224dup (p.Asn1075LysfsTer2) n.3593dup | ClinVar dbSNP |
| 13 | g.32337948del | CA018383 | BRCA2 | c.3593del (p.Asn1198MetfsTer11) c.3224del (p.Asn1075MetfsTer11) n.3593del | ClinVar dbSNP |
| 13 | g.32337945A>C | CA387777430 | BRCA2 | c.3590A>C (p.Lys1197Thr) c.3221A>C (p.Lys1074Thr) n.3590A>C | |
| 13 | g.32337945A>G | CA387777432 | BRCA2 | c.3590A>G (p.Lys1197Arg) c.3221A>G (p.Lys1074Arg) n.3590A>G | gnomAD v4 |
| 13 | g.32337945A>T | CA387777433 | BRCA2 | c.3590A>T (p.Lys1197Ile) c.3221A>T (p.Lys1074Ile) n.3590A>T | dbSNP |
| 13 | g.32337946A>C | CA387777436 | BRCA2 | c.3591A>C (p.Lys1197Asn) c.3222A>C (p.Lys1074Asn) n.3591A>C | gnomAD v4 |
| 13 | g.32337946A>G | CA483437645 | BRCA2 | c.3591A>G (p.Lys1197=) c.3222A>G (p.Lys1074=) n.3591A>G | |
| 13 | g.32337946A>T | CA387777439 | BRCA2 | c.3591A>T (p.Lys1197Asn) c.3222A>T (p.Lys1074Asn) n.3591A>T | dbSNP |
| 13 | g.32337947A>C | CA387777442 | BRCA2 | c.3592A>C (p.Asn1198His) c.3223A>C (p.Asn1075His) n.3592A>C | |
| 13 | g.32337947A>G | CA387777443 | BRCA2 | c.3592A>G (p.Asn1198Asp) c.3223A>G (p.Asn1075Asp) n.3592A>G | ClinVar dbSNP |
| 13 | g.32337947A>T | CA387777445 | BRCA2 | c.3592A>T (p.Asn1198Tyr) c.3223A>T (p.Asn1075Tyr) n.3592A>T | |
| 13 | g.32337948A= | CA2082818607 | BRCA2 | c.3593A= (p.Asn1198=) c.3224A= (p.Asn1075=) n.3593A= | |
| 13 | g.32337948A>C | CA387777448 | BRCA2 | c.3593A>C (p.Asn1198Thr) c.3224A>C (p.Asn1075Thr) n.3593A>C | ClinVar dbSNP |
| 13 | g.32337948A>G | CA6940706 | BRCA2 | c.3593A>G (p.Asn1198Ser) c.3224A>G (p.Asn1075Ser) n.3593A>G | ClinVar dbSNP ExAC |
| 13 | g.32337948A>T | CA387777451 | BRCA2 | c.3593A>T (p.Asn1198Ile) c.3224A>T (p.Asn1075Ile) n.3593A>T | dbSNP |
| 13 | g.32337948_32337952delinsATGAC | CA2082818614 | BRCA2 | c.3593_3597delinsATGAC (p.Asn1198=) c.3224_3228delinsATGAC (p.Asn1075=) n.3593_3597delinsATGAC | |
| 13 | g.32337949T>A | CA387777454 | BRCA2 | c.3594T>A (p.Asn1198Lys) c.3225T>A (p.Asn1075Lys) n.3594T>A | dbSNP |
| 13 | g.32337949T>C | CA483437647 | BRCA2 | c.3594T>C (p.Asn1198=) c.3225T>C (p.Asn1075=) n.3594T>C | dbSNP |
| 13 | g.32337949T>G | CA387777455 | BRCA2 | c.3594T>G (p.Asn1198Lys) c.3225T>G (p.Asn1075Lys) n.3594T>G | ClinVar |
| 13 | g.32337951_32337954del | CA10589212 | BRCA2 | c.3596_3599del (p.Asp1199ValfsTer9) c.3227_3230del (p.Asp1076ValfsTer9) n.3596_3599del | ClinVar dbSNP |
| 13 | g.32337950G>A | CA16614292 | BRCA2 | c.3595G>A (p.Asp1199Asn) c.3226G>A (p.Asp1076Asn) n.3595G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337950G>C | CA387777461 | BRCA2 | c.3595G>C (p.Asp1199His) c.3226G>C (p.Asp1076His) n.3595G>C | dbSNP |
| 13 | g.32337950G= | CA2082818631 | BRCA2 | c.3595G= (p.Asp1199=) c.3226G= (p.Asp1076=) n.3595G= | |
| 13 | g.32337950G>T | CA387777459 | BRCA2 | c.3595G>T (p.Asp1199Tyr) c.3226G>T (p.Asp1076Tyr) n.3595G>T | ClinVar dbSNP |
| 13 | g.32337951A>C | CA387777466 | BRCA2 | c.3596A>C (p.Asp1199Ala) c.3227A>C (p.Asp1076Ala) n.3596A>C | |
| 13 | g.32337951A>G | CA387777467 | BRCA2 | c.3596A>G (p.Asp1199Gly) c.3227A>G (p.Asp1076Gly) n.3596A>G | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32337951A>T | CA387777470 | BRCA2 | c.3596A>T (p.Asp1199Val) c.3227A>T (p.Asp1076Val) n.3596A>T | dbSNP |
| 13 | g.32337952C>A | CA387777472 | BRCA2 | c.3597C>A (p.Asp1199Glu) c.3228C>A (p.Asp1076Glu) n.3597C>A | |
| 13 | g.32337952C= | CA2082818646 | BRCA2 | c.3597C= (p.Asp1199=) c.3228C= (p.Asp1076=) n.3597C= | |
| 13 | g.32337952C>G | CA387777476 | BRCA2 | c.3597C>G (p.Asp1199Glu) c.3228C>G (p.Asp1076Glu) n.3597C>G | ClinVar dbSNP |
| 13 | g.32337952C>T | CA247505390 | BRCA2 | c.3597C>T (p.Asp1199=) c.3228C>T (p.Asp1076=) n.3597C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32337952_32337954delinsCTG | CA2082818643 | BRCA2 | c.3597_3599delinsCTG (p.Asp1199=) c.3228_3230delinsCTG (p.Asp1076=) n.3597_3599delinsCTG | |
| 13 | g.32337953T>A | CA018392 | BRCA2 | c.3598T>A (p.Cys1200Ser) c.3229T>A (p.Cys1077Ser) n.3598T>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337953T>C | CA387777483 | BRCA2 | c.3598T>C (p.Cys1200Arg) c.3229T>C (p.Cys1077Arg) n.3598T>C | |
| 13 | g.32337953T>G | CA247505407 | BRCA2 | c.3598T>G (p.Cys1200Gly) c.3229T>G (p.Cys1077Gly) n.3598T>G | ClinVar dbSNP |
| 13 | g.32337953T= | CA2082818666 | BRCA2 | c.3598T= (p.Cys1200=) c.3229T= (p.Cys1077=) n.3598T= | |
| 13 | g.32337953_32337954delinsTG | CA2082818675 | BRCA2 | c.3598_3599delinsTG (p.Cys1200=) c.3229_3230delinsTG (p.Cys1077=) n.3598_3599delinsTG | |
| 13 | g.32337954_32337955del | CA018389 | BRCA2 | c.3599_3600del (p.Cys1200Ter) c.3230_3231del (p.Cys1077Ter) n.3599_3600del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 13 | g.32337954del | CA10586511 | BRCA2 | c.3599del (p.Cys1200LeufsTer9) c.3230del (p.Cys1077LeufsTer9) n.3599del | ClinVar dbSNP |
| 13 | g.32337954G>A | CA387777490 | BRCA2 | c.3599G>A (p.Cys1200Tyr) c.3230G>A (p.Cys1077Tyr) n.3599G>A | ClinVar dbSNP |
| 13 | g.32337954G>C | CA387777491 | BRCA2 | c.3599G>C (p.Cys1200Ser) c.3230G>C (p.Cys1077Ser) n.3599G>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337954G= | CA2082818688 | BRCA2 | c.3599G= (p.Cys1200=) c.3230G= (p.Cys1077=) n.3599G= | |
| 13 | g.32337954G>T | CA387777489 | BRCA2 | c.3599G>T (p.Cys1200Phe) c.3230G>T (p.Cys1077Phe) n.3599G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32337955del | CA2580087102 | BRCA2 | c.3600del (p.Cys1200Ter) c.3231del (p.Cys1077Ter) n.3600del | ClinVar |
| 13 | g.32337955T>A | CA387777493 | BRCA2 | c.3600T>A (p.Cys1200Ter) c.3231T>A (p.Cys1077Ter) n.3600T>A | ClinVar dbSNP |
| 13 | g.32337955T>C | CA018408 | BRCA2 | c.3600T>C (p.Cys1200=) c.3231T>C (p.Cys1077=) n.3600T>C | ClinVar dbSNP |
| 13 | g.32337955T>G | CA387777494 | BRCA2 | c.3600T>G (p.Cys1200Trp) c.3231T>G (p.Cys1077Trp) n.3600T>G | dbSNP |
| 13 | g.32337955T= | CA2082818706 | BRCA2 | c.3600T= (p.Cys1200=) c.3231T= (p.Cys1077=) n.3600T= | |
| 13 | g.32337955_32337956insTT | CA2499222137 | BRCA2 | c.3600_3601insTT (p.Asn1201LeufsTer9) c.3231_3232insTT (p.Asn1078LeufsTer9) n.3600_3601insTT | |
| 13 | g.32337955dup | CA2573149325 | BRCA2 | c.3600dup (p.Asn1201Ter) c.3231dup (p.Asn1078Ter) n.3600dup | ClinVar dbSNP |
| 13 | g.32337956A= | CA2082818719 | BRCA2 | c.3601A= (p.Asn1201=) c.3232A= (p.Asn1078=) n.3601A= | |
| 13 | g.32337956A>C | CA387777497 | BRCA2 | c.3601A>C (p.Asn1201His) c.3232A>C (p.Asn1078His) n.3601A>C | |
| 13 | g.32337956A>G | CA387777499 | BRCA2 | c.3601A>G (p.Asn1201Asp) c.3232A>G (p.Asn1078Asp) n.3601A>G | ClinVar dbSNP |
| 13 | g.32337956A>T | CA387777500 | BRCA2 | c.3601A>T (p.Asn1201Tyr) c.3232A>T (p.Asn1078Tyr) n.3601A>T | |
| 13 | g.32337956_32337957delinsT | CA2695218188 | BRCA2 | c.3601_3602delinsT (p.Asn1201SerfsTer8) c.3232_3233delinsT (p.Asn1078SerfsTer8) n.3601_3602delinsT | |
| 13 | g.32337957A>C | CA387777503 | BRCA2 | c.3602A>C (p.Asn1201Thr) c.3233A>C (p.Asn1078Thr) n.3602A>C | |
| 13 | g.32337957A>G | CA387777505 | BRCA2 | c.3602A>G (p.Asn1201Ser) c.3233A>G (p.Asn1078Ser) n.3602A>G | dbSNP |
| 13 | g.32337957A>T | CA387777506 | BRCA2 | c.3602A>T (p.Asn1201Ile) c.3233A>T (p.Asn1078Ile) n.3602A>T | dbSNP |
| 13 | g.32337957_32337958delinsAC | CA2082818724 | BRCA2 | c.3602_3603delinsAC (p.Asn1201=) c.3233_3234delinsAC (p.Asn1078=) n.3602_3603delinsAC | |
| 13 | g.32337958del | CA10589213 | BRCA2 | c.3603del (p.Asn1201LysfsTer8) c.3234del (p.Asn1078LysfsTer8) n.3603del | ClinVar dbSNP |
| 13 | g.32337958C>A | CA387777509 | BRCA2 | c.3603C>A (p.Asn1201Lys) c.3234C>A (p.Asn1078Lys) n.3603C>A | |
| 13 | g.32337958C>G | CA387777510 | BRCA2 | c.3603C>G (p.Asn1201Lys) c.3234C>G (p.Asn1078Lys) n.3603C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32337958C>T | CA483437652 | BRCA2 | c.3603C>T (p.Asn1201=) c.3234C>T (p.Asn1078=) n.3603C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337959A>C | CA387777514 | BRCA2 | c.3604A>C (p.Lys1202Gln) c.3235A>C (p.Lys1079Gln) n.3604A>C | |
| 13 | g.32337959A>G | CA387777517 | BRCA2 | c.3604A>G (p.Lys1202Glu) c.3235A>G (p.Lys1079Glu) n.3604A>G | ClinVar |
| 13 | g.32337959A>T | CA387777519 | BRCA2 | c.3604A>T (p.Lys1202Ter) c.3235A>T (p.Lys1079Ter) n.3604A>T | dbSNP |
| 13 | g.32337962del | CA2499222139 | BRCA2 | c.3607del (p.Ser1203ValfsTer6) c.3238del (p.Ser1080ValfsTer6) n.3607del | |
| 13 | g.32337961_32337962del | CA2499222138 | BRCA2 | c.3606_3607del (p.Ser1203CysfsTer8) c.3237_3238del (p.Ser1080CysfsTer8) n.3606_3607del | |
| 13 | g.32337960A= | CA2082818733 | BRCA2 | c.3605A= (p.Lys1202=) c.3236A= (p.Lys1079=) n.3605A= | |
| 13 | g.32337960A>C | CA387777522 | BRCA2 | c.3605A>C (p.Lys1202Thr) c.3236A>C (p.Lys1079Thr) n.3605A>C | dbSNP |
| 13 | g.32337960A>G | CA387777520 | BRCA2 | c.3605A>G (p.Lys1202Arg) c.3236A>G (p.Lys1079Arg) n.3605A>G | gnomAD v4 |
| 13 | g.32337960A>T | CA387777521 | BRCA2 | c.3605A>T (p.Lys1202Ile) c.3236A>T (p.Lys1079Ile) n.3605A>T | |
| 13 | g.32337961A>C | CA387777523 | BRCA2 | c.3606A>C (p.Lys1202Asn) c.3237A>C (p.Lys1079Asn) n.3606A>C | |
| 13 | g.32337961A>G | CA483437656 | BRCA2 | c.3606A>G (p.Lys1202=) c.3237A>G (p.Lys1079=) n.3606A>G | |
| 13 | g.32337961A>T | CA387777524 | BRCA2 | c.3606A>T (p.Lys1202Asn) c.3237A>T (p.Lys1079Asn) n.3606A>T | dbSNP |
| 13 | g.32337962A>C | CA387777526 | BRCA2 | c.3607A>C (p.Ser1203Arg) c.3238A>C (p.Ser1080Arg) n.3607A>C | |
| 13 | g.32337962A>G | CA387777528 | BRCA2 | c.3607A>G (p.Ser1203Gly) c.3238A>G (p.Ser1080Gly) n.3607A>G | |
| 13 | g.32337962A>T | CA387777530 | BRCA2 | c.3607A>T (p.Ser1203Cys) c.3238A>T (p.Ser1080Cys) n.3607A>T | dbSNP |
| 13 | g.32337963G>A | CA247505427 | BRCA2 | c.3608G>A (p.Ser1203Asn) c.3239G>A (p.Ser1080Asn) n.3608G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337963G>C | CA247505434 | BRCA2 | c.3608G>C (p.Ser1203Thr) c.3239G>C (p.Ser1080Thr) n.3608G>C | dbSNP |
| 13 | g.32337963G= | CA2082818742 | BRCA2 | c.3608G= (p.Ser1203=) c.3239G= (p.Ser1080=) n.3608G= | |
| 13 | g.32337963G>T | CA6940707 | BRCA2 | c.3608G>T (p.Ser1203Ile) c.3239G>T (p.Ser1080Ile) n.3608G>T | dbSNP ExAC gnomAD v4 |
| 13 | g.32337964T>A | CA387777532 | BRCA2 | c.3609T>A (p.Ser1203Arg) c.3240T>A (p.Ser1080Arg) n.3609T>A | dbSNP |
| 13 | g.32337964T>C | CA483437658 | BRCA2 | c.3609T>C (p.Ser1203=) c.3240T>C (p.Ser1080=) n.3609T>C | dbSNP |
| 13 | g.32337964T>G | CA387777534 | BRCA2 | c.3609T>G (p.Ser1203Arg) c.3240T>G (p.Ser1080Arg) n.3609T>G | ClinVar dbSNP gnomAD v2 |
| 13 | g.32337964T= | CA2082818750 | BRCA2 | c.3609T= (p.Ser1203=) c.3240T= (p.Ser1080=) n.3609T= | |
| 13 | g.32337965G>A | CA387777539 | BRCA2 | c.3610G>A (p.Ala1204Thr) c.3241G>A (p.Ala1081Thr) n.3610G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337965G>C | CA387777538 | BRCA2 | c.3610G>C (p.Ala1204Pro) c.3241G>C (p.Ala1081Pro) n.3610G>C | dbSNP |
| 13 | g.32337965G= | CA2082818760 | BRCA2 | c.3610G= (p.Ala1204=) c.3241G= (p.Ala1081=) n.3610G= | |
| 13 | g.32337965G>T | CA387777536 | BRCA2 | c.3610G>T (p.Ala1204Ser) c.3241G>T (p.Ala1081Ser) n.3610G>T | ClinVar dbSNP |
| 13 | g.32337965_32337968delinsGCTT | CA2082818770 | BRCA2 | c.3610_3613delinsGCTT (p.Ala1204=) c.3241_3244delinsGCTT (p.Ala1081=) n.3610_3613delinsGCTT | |
| 13 | g.32337966C>A | CA387777544 | BRCA2 | c.3611C>A (p.Ala1204Asp) c.3242C>A (p.Ala1081Asp) n.3611C>A | dbSNP |
| 13 | g.32337966C= | CA2082818797 | BRCA2 | c.3611C= (p.Ala1204=) c.3242C= (p.Ala1081=) n.3611C= | |
| 13 | g.32337966C>G | CA387777546 | BRCA2 | c.3611C>G (p.Ala1204Gly) c.3242C>G (p.Ala1081Gly) n.3611C>G | dbSNP |
| 13 | g.32337966C>T | CA387777547 | BRCA2 | c.3611C>T (p.Ala1204Val) c.3242C>T (p.Ala1081Val) n.3611C>T | ClinVar dbSNP |
| 13 | g.32337968_32337970del | CA913188529 | BRCA2 | c.3613_3615del (p.Ser1205del) c.3244_3246del (p.Ser1082del) n.3613_3615del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32337966_32337967insCAGTAGTCAT | CA2830782341 | BRCA2 | c.3611_3612insCAGTAGTCAT (p.Gly1206SerfsTer9) c.3242_3243insCAGTAGTCAT (p.Gly1083SerfsTer9) n.3611_3612insCAGTAGTCAT | |
| 13 | g.32337967T>A | CA483437659 | BRCA2 | c.3612T>A (p.Ala1204=) c.3243T>A (p.Ala1081=) n.3612T>A | dbSNP |
| 13 | g.32337967T>C | CA338702 | BRCA2 | c.3612T>C (p.Ala1204=) c.3243T>C (p.Ala1081=) n.3612T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337967T>G | CA483437661 | BRCA2 | c.3612T>G (p.Ala1204=) c.3243T>G (p.Ala1081=) n.3612T>G | |
| 13 | g.32337967T= | CA2082818818 | BRCA2 | c.3612T= (p.Ala1204=) c.3243T= (p.Ala1081=) n.3612T= | |
| 13 | g.32337968T>A | CA387777550 | BRCA2 | c.3613T>A (p.Ser1205Thr) c.3244T>A (p.Ser1082Thr) n.3613T>A | dbSNP |
| 13 | g.32337968T>C | CA387777551 | BRCA2 | c.3613T>C (p.Ser1205Pro) c.3244T>C (p.Ser1082Pro) n.3613T>C | |
| 13 | g.32337968T>G | CA387777553 | BRCA2 | c.3613T>G (p.Ser1205Ala) c.3244T>G (p.Ser1082Ala) n.3613T>G | |
| 13 | g.32337969C>A | CA387777556 | BRCA2 | c.3614C>A (p.Ser1205Tyr) c.3245C>A (p.Ser1082Tyr) n.3614C>A | ClinVar |
| 13 | g.32337969C>G | CA387777557 | BRCA2 | c.3614C>G (p.Ser1205Cys) c.3245C>G (p.Ser1082Cys) n.3614C>G | |
| 13 | g.32337969C>T | CA387777559 | BRCA2 | c.3614C>T (p.Ser1205Phe) c.3245C>T (p.Ser1082Phe) n.3614C>T | |
| 13 | g.32337970T>A | CA483437663 | BRCA2 | c.3615T>A (p.Ser1205=) c.3246T>A (p.Ser1082=) n.3615T>A | |
| 13 | g.32337970T>C | CA6940708 | BRCA2 | c.3615T>C (p.Ser1205=) c.3246T>C (p.Ser1082=) n.3615T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32337970T>G | CA483437664 | BRCA2 | c.3615T>G (p.Ser1205=) c.3246T>G (p.Ser1082=) n.3615T>G | |
| 13 | g.32337970T= | CA2082818827 | BRCA2 | c.3615T= (p.Ser1205=) c.3246T= (p.Ser1082=) n.3615T= | |
| 13 | g.32337971G>A | CA387777564 | BRCA2 | c.3616G>A (p.Gly1206Ser) c.3247G>A (p.Gly1083Ser) n.3616G>A | dbSNP |
| 13 | g.32337971G>C | CA387777563 | BRCA2 | c.3616G>C (p.Gly1206Arg) c.3247G>C (p.Gly1083Arg) n.3616G>C | dbSNP |
| 13 | g.32337971G>T | CA387777562 | BRCA2 | c.3616G>T (p.Gly1206Cys) c.3247G>T (p.Gly1083Cys) n.3616G>T | dbSNP |
| 13 | g.32337972del | CA2727922977 | BRCA2 | c.3617del (p.Gly1206ValfsTer3) c.3248del (p.Gly1083ValfsTer3) n.3617del | dbSNP |
| 13 | g.32337972G>A | CA387777566 | BRCA2 | c.3617G>A (p.Gly1206Asp) c.3248G>A (p.Gly1083Asp) n.3617G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337972G>C | CA387777568 | BRCA2 | c.3617G>C (p.Gly1206Ala) c.3248G>C (p.Gly1083Ala) n.3617G>C | dbSNP |
| 13 | g.32337972G= | CA2082818842 | BRCA2 | c.3617G= (p.Gly1206=) c.3248G= (p.Gly1083=) n.3617G= | |
| 13 | g.32337972G>T | CA387777569 | BRCA2 | c.3617G>T (p.Gly1206Val) c.3248G>T (p.Gly1083Val) n.3617G>T | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337973T>A | CA483437668 | BRCA2 | c.3618T>A (p.Gly1206=) c.3249T>A (p.Gly1083=) n.3618T>A | dbSNP |
| 13 | g.32337973T>C | CA483437669 | BRCA2 | c.3618T>C (p.Gly1206=) c.3249T>C (p.Gly1083=) n.3618T>C | ClinVar |
| 13 | g.32337973T>G | CA483437666 | BRCA2 | c.3618T>G (p.Gly1206=) c.3249T>G (p.Gly1083=) n.3618T>G | dbSNP |
| 13 | g.32337973T= | CA2082818852 | BRCA2 | c.3618T= (p.Gly1206=) c.3249T= (p.Gly1083=) n.3618T= | |
| 13 | g.32337976_32337979del | CA2499222140 | BRCA2 | c.3621_3624del (p.Tyr1207Ter) c.3252_3255del (p.Tyr1084Ter) n.3621_3624del | |
| 13 | g.32337974T>A | CA387777570 | BRCA2 | c.3619T>A (p.Tyr1207Asn) c.3250T>A (p.Tyr1084Asn) n.3619T>A | dbSNP |
| 13 | g.32337974T>C | CA387777571 | BRCA2 | c.3619T>C (p.Tyr1207His) c.3250T>C (p.Tyr1084His) n.3619T>C | |
| 13 | g.32337974T>G | CA387777572 | BRCA2 | c.3619T>G (p.Tyr1207Asp) c.3250T>G (p.Tyr1084Asp) n.3619T>G | dbSNP |
| 13 | g.32337975_32337976dup | CA658656419 | BRCA2 | c.3620_3621dup (p.Leu1208IlefsTer2) c.3251_3252dup (p.Leu1085IlefsTer2) n.3620_3621dup | ClinVar dbSNP |
| 13 | g.32337975A= | CA2082818869 | BRCA2 | c.3620A= (p.Tyr1207=) c.3251A= (p.Tyr1084=) n.3620A= | |
| 13 | g.32337975A>C | CA387777574 | BRCA2 | c.3620A>C (p.Tyr1207Ser) c.3251A>C (p.Tyr1084Ser) n.3620A>C | |
| 13 | g.32337975A>G | CA018414 | BRCA2 | c.3620A>G (p.Tyr1207Cys) c.3251A>G (p.Tyr1084Cys) n.3620A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337975A>T | CA387777576 | BRCA2 | c.3620A>T (p.Tyr1207Phe) c.3251A>T (p.Tyr1084Phe) n.3620A>T | |
| 13 | g.32337976T>A | CA387777577 | BRCA2 | c.3621T>A (p.Tyr1207Ter) c.3252T>A (p.Tyr1084Ter) n.3621T>A | dbSNP |
| 13 | g.32337976T>C | CA483437671 | BRCA2 | c.3621T>C (p.Tyr1207=) c.3252T>C (p.Tyr1084=) n.3621T>C | ClinVar dbSNP |
| 13 | g.32337976T>G | CA387777578 | BRCA2 | c.3621T>G (p.Tyr1207Ter) c.3252T>G (p.Tyr1084Ter) n.3621T>G | dbSNP |
| 13 | g.32337976T= | CA2082818883 | BRCA2 | c.3621T= (p.Tyr1207=) c.3252T= (p.Tyr1084=) n.3621T= | |
| 13 | g.32337978del | CA2580087113 | BRCA2 | c.3623del (p.Leu1208Ter) c.3254del (p.Leu1085Ter) n.3623del | ClinVar |
| 13 | g.32337977T>A | CA018418 | BRCA2 | c.3622T>A (p.Leu1208Ile) c.3253T>A (p.Leu1085Ile) n.3622T>A | ClinVar dbSNP |
| 13 | g.32337977T>C | CA483437672 | BRCA2 | c.3622T>C (p.Leu1208=) c.3253T>C (p.Leu1085=) n.3622T>C | |
| 13 | g.32337977T>G | CA387777581 | BRCA2 | c.3622T>G (p.Leu1208Val) c.3253T>G (p.Leu1085Val) n.3622T>G | |
| 13 | g.32337977T= | CA2082818891 | BRCA2 | c.3622T= (p.Leu1208=) c.3253T= (p.Leu1085=) n.3622T= | |
| 13 | g.32337978T>A | CA387777584 | BRCA2 | c.3623T>A (p.Leu1208Ter) c.3254T>A (p.Leu1085Ter) n.3623T>A | dbSNP COSMIC COSMIC |
| 13 | g.32337978T>C | CA387777585 | BRCA2 | c.3623T>C (p.Leu1208Ser) c.3254T>C (p.Leu1085Ser) n.3623T>C | ClinVar dbSNP |
| 13 | g.32337978T>G | CA387777583 | BRCA2 | c.3623T>G (p.Leu1208Ter) c.3254T>G (p.Leu1085Ter) n.3623T>G | |
| 13 | g.32337978T= | CA2082818911 | BRCA2 | c.3623T= (p.Leu1208=) c.3254T= (p.Leu1085=) n.3623T= | |
| 13 | g.32337979A= | CA2082818917 | BRCA2 | c.3624A= (p.Leu1208=) c.3255A= (p.Leu1085=) n.3624A= | |
| 13 | g.32337979A>C | CA387777587 | BRCA2 | c.3624A>C (p.Leu1208Phe) c.3255A>C (p.Leu1085Phe) n.3624A>C | ClinVar dbSNP |
| 13 | g.32337979A>G | CA483437675 | BRCA2 | c.3624A>G (p.Leu1208=) c.3255A>G (p.Leu1085=) n.3624A>G | dbSNP |
| 13 | g.32337979A>T | CA387777586 | BRCA2 | c.3624A>T (p.Leu1208Phe) c.3255A>T (p.Leu1085Phe) n.3624A>T | dbSNP |
| 13 | g.32337980A>C | CA387777589 | BRCA2 | c.3625A>C (p.Thr1209Pro) c.3256A>C (p.Thr1086Pro) n.3625A>C | dbSNP |
| 13 | g.32337980A>G | CA387777591 | BRCA2 | c.3625A>G (p.Thr1209Ala) c.3256A>G (p.Thr1086Ala) n.3625A>G | dbSNP |
| 13 | g.32337980A>T | CA387777592 | BRCA2 | c.3625A>T (p.Thr1209Ser) c.3256A>T (p.Thr1086Ser) n.3625A>T | dbSNP |
| 13 | g.32337981C>A | CA387777594 | BRCA2 | c.3626C>A (p.Thr1209Lys) c.3257C>A (p.Thr1086Lys) n.3626C>A | dbSNP |
| 13 | g.32337981C>G | CA387777596 | BRCA2 | c.3626C>G (p.Thr1209Arg) c.3257C>G (p.Thr1086Arg) n.3626C>G | ClinVar dbSNP |
| 13 | g.32337981C>T | CA387777597 | BRCA2 | c.3626C>T (p.Thr1209Ile) c.3257C>T (p.Thr1086Ile) n.3626C>T | dbSNP |
| 13 | g.32337981_32337983delinsCAG | CA2082818930 | BRCA2 | c.3626_3628delinsCAG (p.Thr1209=) c.3257_3259delinsCAG (p.Thr1086=) n.3626_3628delinsCAG | |
| 13 | g.32337982A= | CA2082818938 | BRCA2 | c.3627A= (p.Thr1209=) c.3258A= (p.Thr1086=) n.3627A= | |
| 13 | g.32337982A>C | CA483437680 | BRCA2 | c.3627A>C (p.Thr1209=) c.3258A>C (p.Thr1086=) n.3627A>C | |
| 13 | g.32337982A>G | CA483437683 | BRCA2 | c.3627A>G (p.Thr1209=) c.3258A>G (p.Thr1086=) n.3627A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337982A>T | CA483437684 | BRCA2 | c.3627A>T (p.Thr1209=) c.3258A>T (p.Thr1086=) n.3627A>T | dbSNP |
| 13 | g.32337983_32337984del | CA658823676 | BRCA2 | c.3628_3629del (p.Asp1210Ter) c.3259_3260del (p.Asp1087Ter) n.3628_3629del | ClinVar dbSNP |
| 13 | g.32337983G>A | CA6940710 | BRCA2 | c.3628G>A (p.Asp1210Asn) c.3259G>A (p.Asp1087Asn) n.3628G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32337983G>C | CA387777601 | BRCA2 | c.3628G>C (p.Asp1210His) c.3259G>C (p.Asp1087His) n.3628G>C | ClinVar dbSNP |
| 13 | g.32337983G= | CA2082818947 | BRCA2 | c.3628G= (p.Asp1210=) c.3259G= (p.Asp1087=) n.3628G= | |
| 13 | g.32337983G>T | CA387777599 | BRCA2 | c.3628G>T (p.Asp1210Tyr) c.3259G>T (p.Asp1087Tyr) n.3628G>T | |
| 13 | g.32337983_32337989delinsGATGAAA | CA2082818948 | BRCA2 | c.3628_3634delinsGATGAAA (p.Asp1210=) c.3259_3265delinsGATGAAA (p.Asp1087=) n.3628_3634delinsGATGAAA | |
| 13 | g.32337984A= | CA2082818961 | BRCA2 | c.3629A= (p.Asp1210=) c.3260A= (p.Asp1087=) n.3629A= | |
| 13 | g.32337984A>C | CA018425 | BRCA2 | c.3629A>C (p.Asp1210Ala) c.3260A>C (p.Asp1087Ala) n.3629A>C | ClinVar dbSNP |
| 13 | g.32337984A>G | CA387777603 | BRCA2 | c.3629A>G (p.Asp1210Gly) c.3260A>G (p.Asp1087Gly) n.3629A>G | |
| 13 | g.32337984A>T | CA6940711 | BRCA2 | c.3629A>T (p.Asp1210Val) c.3260A>T (p.Asp1087Val) n.3629A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337989_32337994del | CA6940709 | BRCA2 | c.3634_3639del (p.Asn1212_Glu1213del) c.3265_3270del (p.Asn1089_Glu1090del) n.3634_3639del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337985T>A | CA387777605 | BRCA2 | c.3630T>A (p.Asp1210Glu) c.3261T>A (p.Asp1087Glu) n.3630T>A | |
| 13 | g.32337985T>C | CA018427 | BRCA2 | c.3630T>C (p.Asp1210=) c.3261T>C (p.Asp1087=) n.3630T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337985T>G | CA16613952 | BRCA2 | c.3630T>G (p.Asp1210Glu) c.3261T>G (p.Asp1087Glu) n.3630T>G | ClinVar dbSNP |
| 13 | g.32337985T= | CA2082818968 | BRCA2 | c.3630T= (p.Asp1210=) c.3261T= (p.Asp1087=) n.3630T= | |
| 13 | g.32337986G>A | CA387777608 | BRCA2 | c.3631G>A (p.Glu1211Lys) c.3262G>A (p.Glu1088Lys) n.3631G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32337986G>C | CA387777609 | BRCA2 | c.3631G>C (p.Glu1211Gln) c.3262G>C (p.Glu1088Gln) n.3631G>C | |
| 13 | g.32337986G= | CA2082818980 | BRCA2 | c.3631G= (p.Glu1211=) c.3262G= (p.Glu1088=) n.3631G= | |
| 13 | g.32337986G>T | CA10589214 | BRCA2 | c.3631G>T (p.Glu1211Ter) c.3262G>T (p.Glu1088Ter) n.3631G>T | ClinVar dbSNP |
| 13 | g.32337986_32337987delinsGA | CA2082818986 | BRCA2 | c.3631_3632delinsGA (p.Glu1211=) c.3262_3263delinsGA (p.Glu1088=) n.3631_3632delinsGA | |
| 13 | g.32337987A>C | CA387777912 | BRCA2 | c.3632A>C (p.Glu1211Ala) c.3263A>C (p.Glu1088Ala) n.3632A>C | |
| 13 | g.32337987A>G | CA387777913 | BRCA2 | c.3632A>G (p.Glu1211Gly) c.3263A>G (p.Glu1088Gly) n.3632A>G | |
| 13 | g.32337987A>T | CA387777914 | BRCA2 | c.3632A>T (p.Glu1211Val) c.3263A>T (p.Glu1088Val) n.3632A>T | dbSNP |
| 13 | g.32337990dup | CA658656420 | BRCA2 | c.3635dup (p.Asn1212LysfsTer2) c.3266dup (p.Asn1089LysfsTer2) n.3635dup | ClinVar dbSNP |
| 13 | g.32337990del | CA913190908 | BRCA2 | c.3635del (p.Asn1212MetfsTer16) c.3266del (p.Asn1089MetfsTer16) n.3635del | ClinVar dbSNP |
| 13 | g.32337988A>C | CA387777915 | BRCA2 | c.3633A>C (p.Glu1211Asp) c.3264A>C (p.Glu1088Asp) n.3633A>C | |
| 13 | g.32337988A>G | CA483437649 | BRCA2 | c.3633A>G (p.Glu1211=) c.3264A>G (p.Glu1088=) n.3633A>G | |
| 13 | g.32337988A>T | CA387777916 | BRCA2 | c.3633A>T (p.Glu1211Asp) c.3264A>T (p.Glu1088Asp) n.3633A>T | dbSNP |
| 13 | g.32337988_32337992delinsAAATG | CA2082818998 | BRCA2 | c.3633_3637delinsAAATG (p.Glu1211=) c.3264_3268delinsAAATG (p.Glu1088=) n.3633_3637delinsAAATG | |
| 13 | g.32337989A= | CA2082819006 | BRCA2 | c.3634A= (p.Asn1212=) c.3265A= (p.Asn1089=) n.3634A= | |
| 13 | g.32337989A>C | CA387777917 | BRCA2 | c.3634A>C (p.Asn1212His) c.3265A>C (p.Asn1089His) n.3634A>C | |
| 13 | g.32337989A>G | CA387777918 | BRCA2 | c.3634A>G (p.Asn1212Asp) c.3265A>G (p.Asn1089Asp) n.3634A>G | ClinVar dbSNP |
| 13 | g.32337989A>T | CA387777919 | BRCA2 | c.3634A>T (p.Asn1212Tyr) c.3265A>T (p.Asn1089Tyr) n.3634A>T | dbSNP |
| 13 | g.32337991_32337994del | CA10579583 | BRCA2 | c.3636_3639del (p.Asn1212LysfsTer15) c.3267_3270del (p.Asn1089LysfsTer15) n.3636_3639del | ClinVar dbSNP |
| 13 | g.32337990A= | CA2082819019 | BRCA2 | c.3635A= (p.Asn1212=) c.3266A= (p.Asn1089=) n.3635A= | |
| 13 | g.32337990A>C | CA387777921 | BRCA2 | c.3635A>C (p.Asn1212Thr) c.3266A>C (p.Asn1089Thr) n.3635A>C | |
| 13 | g.32337990A>G | CA387777920 | BRCA2 | c.3635A>G (p.Asn1212Ser) c.3266A>G (p.Asn1089Ser) n.3635A>G | ClinVar dbSNP |
| 13 | g.32337990A>T | CA018434 | BRCA2 | c.3635A>T (p.Asn1212Ile) c.3266A>T (p.Asn1089Ile) n.3635A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337991T>A | CA387777922 | BRCA2 | c.3636T>A (p.Asn1212Lys) c.3267T>A (p.Asn1089Lys) n.3636T>A | dbSNP |
| 13 | g.32337991T>C | CA483437653 | BRCA2 | c.3636T>C (p.Asn1212=) c.3267T>C (p.Asn1089=) n.3636T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32337991T>G | CA387777923 | BRCA2 | c.3636T>G (p.Asn1212Lys) c.3267T>G (p.Asn1089Lys) n.3636T>G | ClinVar dbSNP |
| 13 | g.32337991T= | CA2082819038 | BRCA2 | c.3636T= (p.Asn1212=) c.3267T= (p.Asn1089=) n.3636T= | |
| 13 | g.32337991_32337992delinsTG | CA2082819034 | BRCA2 | c.3636_3637delinsTG (p.Asn1212=) c.3267_3268delinsTG (p.Asn1089=) n.3636_3637delinsTG | |
| 13 | g.32337992del | CA10589215 | BRCA2 | c.3637del (p.Glu1213LysfsTer15) c.3268del (p.Glu1090LysfsTer15) n.3637del | ClinVar dbSNP |
| 13 | g.32337992G>A | CA387777924 | BRCA2 | c.3637G>A (p.Glu1213Lys) c.3268G>A (p.Glu1090Lys) n.3637G>A | ClinVar dbSNP |
| 13 | g.32337992G>C | CA387777925 | BRCA2 | c.3637G>C (p.Glu1213Gln) c.3268G>C (p.Glu1090Gln) n.3637G>C | dbSNP |
| 13 | g.32337992G= | CA2082819055 | BRCA2 | c.3637G= (p.Glu1213=) c.3268G= (p.Glu1090=) n.3637G= | |
| 13 | g.32337992G>T | CA387777926 | BRCA2 | c.3637G>T (p.Glu1213Ter) c.3268G>T (p.Glu1090Ter) n.3637G>T | ClinVar dbSNP |
| 13 | g.32337992_32337993delinsGA | CA2082819060 | BRCA2 | c.3637_3638delinsGA (p.Glu1213=) c.3268_3269delinsGA (p.Glu1090=) n.3637_3638delinsGA | |
| 13 | g.32337992_32337996delinsAAGG | CA2695218189 | BRCA2 | c.3637_3641delinsAAGG (p.Glu1213LysfsTer15) c.3268_3272delinsAAGG (p.Glu1090LysfsTer15) n.3637_3641delinsAAGG | ClinVar |
| 13 | g.32337993A= | CA2082819089 | BRCA2 | c.3638A= (p.Glu1213=) c.3269A= (p.Glu1090=) n.3638A= | |
| 13 | g.32337993A>C | CA387777928 | BRCA2 | c.3638A>C (p.Glu1213Ala) c.3269A>C (p.Glu1090Ala) n.3638A>C | |
| 13 | g.32337993A>G | CA387777927 | BRCA2 | c.3638A>G (p.Glu1213Gly) c.3269A>G (p.Glu1090Gly) n.3638A>G | ClinVar dbSNP |
| 13 | g.32337993A>T | CA387777929 | BRCA2 | c.3638A>T (p.Glu1213Val) c.3269A>T (p.Glu1090Val) n.3638A>T | dbSNP |
| 13 | g.32337994del | CA018444 | BRCA2 | c.3639del (p.Val1214TrpfsTer14) c.3270del (p.Val1091TrpfsTer14) n.3639del | ClinVar dbSNP COSMIC |
| 13 | g.32337993_32338007delinsAAGTGGGGTTTAGGG | CA2082819086 | BRCA2 | c.3638_3652delinsAAGTGGGGTTTAGGG (p.Glu1213=) c.3269_3283delinsAAGTGGGGTTTAGGG (p.Glu1090=) n.3638_3652delinsAAGTGGGGTTTAGGG | |
| 13 | g.32337994A= | CA2082819107 | BRCA2 | c.3639A= (p.Glu1213=) c.3270A= (p.Glu1090=) n.3639A= | |
| 13 | g.32337994A>C | CA387777930 | BRCA2 | c.3639A>C (p.Glu1213Asp) c.3270A>C (p.Glu1090Asp) n.3639A>C | ClinVar dbSNP |
| 13 | g.32337994A>G | CA483437660 | BRCA2 | c.3639A>G (p.Glu1213=) c.3270A>G (p.Glu1090=) n.3639A>G | dbSNP |
| 13 | g.32337994A>T | CA387777931 | BRCA2 | c.3639A>T (p.Glu1213Asp) c.3270A>T (p.Glu1090Asp) n.3639A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337994_32338007del | CA10586512 | BRCA2 | c.3639_3652del (p.Val1214LeufsTer14) c.3270_3283del (p.Val1091LeufsTer14) n.3639_3652del | ClinVar dbSNP |
| 13 | g.32337995G>A | CA247505516 | BRCA2 | c.3640G>A (p.Val1214Met) c.3271G>A (p.Val1091Met) n.3640G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32337995G>C | CA387777932 | BRCA2 | c.3640G>C (p.Val1214Leu) c.3271G>C (p.Val1091Leu) n.3640G>C | dbSNP |
| 13 | g.32337995G= | CA2082819116 | BRCA2 | c.3640G= (p.Val1214=) c.3271G= (p.Val1091=) n.3640G= | |
| 13 | g.32337995G>T | CA387777933 | BRCA2 | c.3640G>T (p.Val1214Leu) c.3271G>T (p.Val1091Leu) n.3640G>T | |
| 13 | g.32337995_32337996delinsGT | CA2082819118 | BRCA2 | c.3640_3641delinsGT (p.Val1214=) c.3271_3272delinsGT (p.Val1091=) n.3640_3641delinsGT | |
| 13 | g.32337996del | CA018454 | BRCA2 | c.3641del (p.Val1214GlyfsTer14) c.3272del (p.Val1091GlyfsTer14) n.3641del | ClinVar dbSNP |
| 13 | g.32337996T>A | CA387777936 | BRCA2 | c.3641T>A (p.Val1214Glu) c.3272T>A (p.Val1091Glu) n.3641T>A | |
| 13 | g.32337996T>C | CA387777934 | BRCA2 | c.3641T>C (p.Val1214Ala) c.3272T>C (p.Val1091Ala) n.3641T>C | |
| 13 | g.32337996T>G | CA387777935 | BRCA2 | c.3641T>G (p.Val1214Gly) c.3272T>G (p.Val1091Gly) n.3641T>G | |
| 13 | g.32337996dup | CA018449 | BRCA2 | c.3641dup (p.Phe1216ValfsTer2) c.3272dup (p.Phe1093ValfsTer2) n.3641dup | ClinVar dbSNP |
| 13 | g.32337996_32338005delinsTGGGGTTTAG | CA2082819135 | BRCA2 | c.3641_3650delinsTGGGGTTTAG (p.Val1214=) c.3272_3281delinsTGGGGTTTAG (p.Val1091=) n.3641_3650delinsTGGGGTTTAG | |
| 13 | g.32337996_32337997insA | CA2573149328 | BRCA2 | c.3641_3642insA (p.Phe1216ValfsTer2) c.3272_3273insA (p.Phe1093ValfsTer2) n.3641_3642insA | ClinVar dbSNP |
| 13 | g.32337997G>A | CA16607462 | BRCA2 | c.3642G>A (p.Val1214=) c.3273G>A (p.Val1091=) n.3642G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32337997G>C | CA483437665 | BRCA2 | c.3642G>C (p.Val1214=) c.3273G>C (p.Val1091=) n.3642G>C | dbSNP |
| 13 | g.32337997G= | CA2082819141 | BRCA2 | c.3642G= (p.Val1214=) c.3273G= (p.Val1091=) n.3642G= | |
| 13 | g.32337997G>T | CA483437667 | BRCA2 | c.3642G>T (p.Val1214=) c.3273G>T (p.Val1091=) n.3642G>T | dbSNP |
| 13 | g.32338000dup | CA2499222141 | BRCA2 | c.3645dup (p.Phe1216ValfsTer2) c.3276dup (p.Phe1093ValfsTer2) n.3645dup | ClinVar dbSNP |
| 13 | g.32338000del | CA658761213 | BRCA2 | c.3645del (p.Phe1216LeufsTer12) c.3276del (p.Phe1093LeufsTer12) n.3645del | dbSNP |
| 13 | g.32338000_32338008del | CA919242481 | BRCA2 | c.3645_3653del (p.Phe1216_Gly1218del) c.3276_3284del (p.Phe1093_Gly1095del) n.3645_3653del | dbSNP |
| 13 | g.32337998G>A | CA387777937 | BRCA2 | c.3643G>A (p.Gly1215Arg) c.3274G>A (p.Gly1092Arg) n.3643G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32337998G>C | CA387777938 | BRCA2 | c.3643G>C (p.Gly1215Arg) c.3274G>C (p.Gly1092Arg) n.3643G>C | dbSNP |
| 13 | g.32337998G= | CA2082819147 | BRCA2 | c.3643G= (p.Gly1215=) c.3274G= (p.Gly1092=) n.3643G= | |
| 13 | g.32337998G>T | CA387777939 | BRCA2 | c.3643G>T (p.Gly1215Trp) c.3274G>T (p.Gly1092Trp) n.3643G>T | dbSNP |
| 13 | g.32337999G>A | CA6940712 | BRCA2 | c.3644G>A (p.Gly1215Glu) c.3275G>A (p.Gly1092Glu) n.3644G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32337999G>C | CA387777940 | BRCA2 | c.3644G>C (p.Gly1215Ala) c.3275G>C (p.Gly1092Ala) n.3644G>C | dbSNP |
| 13 | g.32337999G= | CA2082819158 | BRCA2 | c.3644G= (p.Gly1215=) c.3275G= (p.Gly1092=) n.3644G= | |
| 13 | g.32337999G>T | CA387777941 | BRCA2 | c.3644G>T (p.Gly1215Val) c.3275G>T (p.Gly1092Val) n.3644G>T | dbSNP gnomAD v4 |
| 13 | g.32337999_32338001delinsGGT | CA2082819155 | BRCA2 | c.3644_3646delinsGGT (p.Gly1215=) c.3275_3277delinsGGT (p.Gly1092=) n.3644_3646delinsGGT | |
| 13 | g.32337999_32338001delinsTAAAAAGG | CA2825002129 | BRCA2 | c.3644_3646delinsTAAAAAGG (p.Gly1215ValfsTer15) c.3275_3277delinsTAAAAAGG (p.Gly1092ValfsTer15) n.3644_3646delinsTAAAAAGG | ClinVar |
| 13 | g.32337999_32338002delinsGGTT | CA2082819169 | BRCA2 | c.3644_3647delinsGGTT (p.Gly1215=) c.3275_3278delinsGGTT (p.Gly1092=) n.3644_3647delinsGGTT | |
| 13 | g.32338000G>A | CA16613953 | BRCA2 | c.3645G>A (p.Gly1215=) c.3276G>A (p.Gly1092=) n.3645G>A | ClinVar dbSNP |
| 13 | g.32338000G>C | CA483437674 | BRCA2 | c.3645G>C (p.Gly1215=) c.3276G>C (p.Gly1092=) n.3645G>C | |
| 13 | g.32338000G= | CA2082819180 | BRCA2 | c.3645G= (p.Gly1215=) c.3276G= (p.Gly1092=) n.3645G= | |
| 13 | g.32338000G>T | CA483437673 | BRCA2 | c.3645G>T (p.Gly1215=) c.3276G>T (p.Gly1092=) n.3645G>T | |
| 13 | g.32338000_32338001delinsTAAAAAG | CA018463 | BRCA2 | c.3645_3646delinsTAAAAAG (p.Phe1216LysfsTer14) c.3276_3277delinsTAAAAAG (p.Phe1093LysfsTer14) n.3645_3646delinsTAAAAAG | ClinVar dbSNP |
| 13 | g.32338000_32338001dup | CA2573149329 | BRCA2 | c.3645_3646dup (p.Phe1216CysfsTer13) c.3276_3277dup (p.Phe1093CysfsTer13) n.3645_3646dup | ClinVar dbSNP |
| 13 | g.32338000_32338002delinsTA | CA16619698 | BRCA2 | c.3645_3647delinsTA (p.Phe1216IlefsTer12) c.3276_3278delinsTA (p.Phe1093IlefsTer12) n.3645_3647delinsTA | ClinVar dbSNP |
| 13 | g.32338001T>A | CA387777943 | BRCA2 | c.3646T>A (p.Phe1216Ile) c.3277T>A (p.Phe1093Ile) n.3646T>A | ClinVar dbSNP |
| 13 | g.32338001T>C | CA387777944 | BRCA2 | c.3646T>C (p.Phe1216Leu) c.3277T>C (p.Phe1093Leu) n.3646T>C | ClinVar dbSNP |
| 13 | g.32338001T>G | CA387777942 | BRCA2 | c.3646T>G (p.Phe1216Val) c.3277T>G (p.Phe1093Val) n.3646T>G | dbSNP |
| 13 | g.32338003dup | CA1139663157 | BRCA2 | c.3648dup (p.Arg1217Ter) c.3279dup (p.Arg1094Ter) n.3648dup | ClinVar dbSNP |
| 13 | g.32338003del | CA2580087215 | BRCA2 | c.3648del (p.Phe1216LeufsTer12) c.3279del (p.Phe1093LeufsTer12) n.3648del | ClinVar dbSNP |
| 13 | g.32338001_32338004dup | CA2695218190 | BRCA2 | c.3646_3649dup (p.Arg1217IlefsTer2) c.3277_3280dup (p.Arg1094IlefsTer2) n.3646_3649dup | |
| 13 | g.32338002T>A | CA387777946 | BRCA2 | c.3647T>A (p.Phe1216Tyr) c.3278T>A (p.Phe1093Tyr) n.3647T>A | dbSNP |
| 13 | g.32338002T>C | CA387777945 | BRCA2 | c.3647T>C (p.Phe1216Ser) c.3278T>C (p.Phe1093Ser) n.3647T>C | dbSNP |
| 13 | g.32338002T>G | CA387777947 | BRCA2 | c.3647T>G (p.Phe1216Cys) c.3278T>G (p.Phe1093Cys) n.3647T>G | dbSNP |
| 13 | g.32338003T>A | CA387777948 | BRCA2 | c.3648T>A (p.Phe1216Leu) c.3279T>A (p.Phe1093Leu) n.3648T>A | |
| 13 | g.32338003T>C | CA483437677 | BRCA2 | c.3648T>C (p.Phe1216=) c.3279T>C (p.Phe1093=) n.3648T>C | |
| 13 | g.32338003T>G | CA387777949 | BRCA2 | c.3648T>G (p.Phe1216Leu) c.3279T>G (p.Phe1093Leu) n.3648T>G | |
| 13 | g.32338003_32338004delinsTA | CA2082819196 | BRCA2 | c.3648_3649delinsTA (p.Phe1216=) c.3279_3280delinsTA (p.Phe1093=) n.3648_3649delinsTA | |
| 13 | g.32338004del | CA348063 | BRCA2 | c.3649del (p.Arg1217GlyfsTer11) c.3280del (p.Arg1094GlyfsTer11) n.3649del | ClinVar dbSNP |
| 13 | g.32338004A= | CA2082819206 | BRCA2 | c.3649A= (p.Arg1217=) c.3280A= (p.Arg1094=) n.3649A= | |
| 13 | g.32338004A>C | CA483437678 | BRCA2 | c.3649A>C (p.Arg1217=) c.3280A>C (p.Arg1094=) n.3649A>C | ClinVar |
| 13 | g.32338004A>G | CA387777950 | BRCA2 | c.3649A>G (p.Arg1217Gly) c.3280A>G (p.Arg1094Gly) n.3649A>G | gnomAD v4 |
| 13 | g.32338004A>T | CA387777951 | BRCA2 | c.3649A>T (p.Arg1217Trp) c.3280A>T (p.Arg1094Trp) n.3649A>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338005G>A | CA387777952 | BRCA2 | c.3650G>A (p.Arg1217Lys) c.3281G>A (p.Arg1094Lys) n.3650G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338005G>C | CA387777953 | BRCA2 | c.3650G>C (p.Arg1217Thr) c.3281G>C (p.Arg1094Thr) n.3650G>C | ClinVar dbSNP |
| 13 | g.32338005G= | CA2082819211 | BRCA2 | c.3650G= (p.Arg1217=) c.3281G= (p.Arg1094=) n.3650G= | |
| 13 | g.32338005G>T | CA387777954 | BRCA2 | c.3650G>T (p.Arg1217Met) c.3281G>T (p.Arg1094Met) n.3650G>T | dbSNP |
| 13 | g.32338008dup | CA2695199699 | BRCA2 | c.3653dup (p.Phe1219LeufsTer14) c.3284dup (p.Phe1096LeufsTer14) n.3653dup | ClinVar |
| 13 | g.32338006G>A | CA483437685 | BRCA2 | c.3651G>A (p.Arg1217=) c.3282G>A (p.Arg1094=) n.3651G>A | gnomAD v4 |
| 13 | g.32338006G>C | CA387777955 | BRCA2 | c.3651G>C (p.Arg1217Ser) c.3282G>C (p.Arg1094Ser) n.3651G>C | |
| 13 | g.32338006G>T | CA387777956 | BRCA2 | c.3651G>T (p.Arg1217Ser) c.3282G>T (p.Arg1094Ser) n.3651G>T | |
| 13 | g.32338007G>A | CA387777957 | BRCA2 | c.3652G>A (p.Gly1218Ser) c.3283G>A (p.Gly1095Ser) n.3652G>A | ClinVar dbSNP |
| 13 | g.32338007G>C | CA387777958 | BRCA2 | c.3652G>C (p.Gly1218Arg) c.3283G>C (p.Gly1095Arg) n.3652G>C | dbSNP |
| 13 | g.32338007G>T | CA387777959 | BRCA2 | c.3652G>T (p.Gly1218Cys) c.3283G>T (p.Gly1095Cys) n.3652G>T | dbSNP |
| 13 | g.32338008G>A | CA387777960 | BRCA2 | c.3653G>A (p.Gly1218Asp) c.3284G>A (p.Gly1095Asp) n.3653G>A | dbSNP |
| 13 | g.32338008G>C | CA10584443 | BRCA2 | c.3653G>C (p.Gly1218Ala) c.3284G>C (p.Gly1095Ala) n.3653G>C | ClinVar dbSNP |
| 13 | g.32338008G= | CA2082819219 | BRCA2 | c.3653G= (p.Gly1218=) c.3284G= (p.Gly1095=) n.3653G= | |
| 13 | g.32338008G>T | CA387777961 | BRCA2 | c.3653G>T (p.Gly1218Val) c.3284G>T (p.Gly1095Val) n.3653G>T | dbSNP |
| 13 | g.32338009C>A | CA483437689 | BRCA2 | c.3654C>A (p.Gly1218=) c.3285C>A (p.Gly1095=) n.3654C>A | |
| 13 | g.32338009C>G | CA483437687 | BRCA2 | c.3654C>G (p.Gly1218=) c.3285C>G (p.Gly1095=) n.3654C>G | gnomAD v4 |
| 13 | g.32338009C>T | CA483437688 | BRCA2 | c.3654C>T (p.Gly1218=) c.3285C>T (p.Gly1095=) n.3654C>T | gnomAD v4 |
| 13 | g.32338010T>A | CA387777962 | BRCA2 | c.3655T>A (p.Phe1219Ile) c.3286T>A (p.Phe1096Ile) n.3655T>A | |
| 13 | g.32338010T>C | CA018474 | BRCA2 | c.3655T>C (p.Phe1219Leu) c.3286T>C (p.Phe1096Leu) n.3655T>C | ClinVar dbSNP |
| 13 | g.32338010T>G | CA6940713 | BRCA2 | c.3655T>G (p.Phe1219Val) c.3286T>G (p.Phe1096Val) n.3655T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32338010T= | CA2082819230 | BRCA2 | c.3655T= (p.Phe1219=) c.3286T= (p.Phe1096=) n.3655T= |