OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32354860_32355660del | CA2499222270 | BRCA2 | c.7008-1_7435+372del c.6639-1_7066+372del n.7008-1_7435+372del c.6912-1_7339+372del | ClinVar dbSNP |
| 13 | g.32354913C>A | CA387738333 | BRCA2 | c.7060C>A (p.Gln2354Lys) c.6691C>A (p.Gln2231Lys) n.7060C>A c.6964C>A (p.Gln2322Lys) | dbSNP |
| 13 | g.32354913C= | CA2082851856 | BRCA2 | c.7060C= (p.Gln2354=) c.6691C= (p.Gln2231=) n.7060C= c.6964C= (p.Gln2322=) | |
| 13 | g.32354913C>G | CA387738334 | BRCA2 | c.7060C>G (p.Gln2354Glu) c.6691C>G (p.Gln2231Glu) n.7060C>G c.6964C>G (p.Gln2322Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.32354913C>T | CA024825 | BRCA2 | c.7060C>T (p.Gln2354Ter) c.6691C>T (p.Gln2231Ter) n.7060C>T c.6964C>T (p.Gln2322Ter) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32354914A>C | CA387738335 | BRCA2 | c.7061A>C (p.Gln2354Pro) c.6692A>C (p.Gln2231Pro) n.7061A>C c.6965A>C (p.Gln2322Pro) | |
| 13 | g.32354914A>G | CA387738336 | BRCA2 | c.7061A>G (p.Gln2354Arg) c.6692A>G (p.Gln2231Arg) n.7061A>G c.6965A>G (p.Gln2322Arg) | |
| 13 | g.32354914A>T | CA387738337 | BRCA2 | c.7061A>T (p.Gln2354Leu) c.6692A>T (p.Gln2231Leu) n.7061A>T c.6965A>T (p.Gln2322Leu) | dbSNP |
| 13 | g.32354915A= | CA2082851863 | BRCA2 | c.7062A= (p.Gln2354=) c.6693A= (p.Gln2231=) n.7062A= c.6966A= (p.Gln2322=) | |
| 13 | g.32354915A>C | CA387738339 | BRCA2 | c.7062A>C (p.Gln2354His) c.6693A>C (p.Gln2231His) n.7062A>C c.6966A>C (p.Gln2322His) | |
| 13 | g.32354915A>G | CA247468239 | BRCA2 | c.7062A>G (p.Gln2354=) c.6693A>G (p.Gln2231=) n.7062A>G c.6966A>G (p.Gln2322=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32354915A>T | CA387738341 | BRCA2 | c.7062A>T (p.Gln2354His) c.6693A>T (p.Gln2231His) n.7062A>T c.6966A>T (p.Gln2322His) | dbSNP |
| 13 | g.32354916G>A | CA247468247 | BRCA2 | c.7063G>A (p.Glu2355Lys) c.6694G>A (p.Glu2232Lys) n.7063G>A c.6967G>A (p.Glu2323Lys) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32354916G>C | CA387738345 | BRCA2 | c.7063G>C (p.Glu2355Gln) c.6694G>C (p.Glu2232Gln) n.7063G>C c.6967G>C (p.Glu2323Gln) | dbSNP |
| 13 | g.32354916G= | CA2082851869 | BRCA2 | c.7063G= (p.Glu2355=) c.6694G= (p.Glu2232=) n.7063G= c.6967G= (p.Glu2323=) | |
| 13 | g.32354916G>T | CA6941056 | BRCA2 | c.7063G>T (p.Glu2355Ter) c.6694G>T (p.Glu2232Ter) n.7063G>T c.6967G>T (p.Glu2323Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32354917A= | CA2082851879 | BRCA2 | c.7064A= (p.Glu2355=) c.6695A= (p.Glu2232=) n.7064A= c.6968A= (p.Glu2323=) | |
| 13 | g.32354917A>C | CA387738348 | BRCA2 | c.7064A>C (p.Glu2355Ala) c.6695A>C (p.Glu2232Ala) n.7064A>C c.6968A>C (p.Glu2323Ala) | |
| 13 | g.32354917A>G | CA387738351 | BRCA2 | c.7064A>G (p.Glu2355Gly) c.6695A>G (p.Glu2232Gly) n.7064A>G c.6968A>G (p.Glu2323Gly) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32354917A>T | CA387738352 | BRCA2 | c.7064A>T (p.Glu2355Val) c.6695A>T (p.Glu2232Val) n.7064A>T c.6968A>T (p.Glu2323Val) | ClinVar dbSNP |
| 13 | g.32354918A= | CA2082851888 | BRCA2 | c.7065A= (p.Glu2355=) c.6696A= (p.Glu2232=) n.7065A= c.6969A= (p.Glu2323=) | |
| 13 | g.32354918A>C | CA247468252 | BRCA2 | c.7065A>C (p.Glu2355Asp) c.6696A>C (p.Glu2232Asp) n.7065A>C c.6969A>C (p.Glu2323Asp) | ClinVar dbSNP |
| 13 | g.32354918A>G | CA483439364 | BRCA2 | c.7065A>G (p.Glu2355=) c.6696A>G (p.Glu2232=) n.7065A>G c.6969A>G (p.Glu2323=) | ClinVar dbSNP |
| 13 | g.32354918A>T | CA387738356 | BRCA2 | c.7065A>T (p.Glu2355Asp) c.6696A>T (p.Glu2232Asp) n.7065A>T c.6969A>T (p.Glu2323Asp) | dbSNP |
| 13 | g.32354918_32354920delinsATT | CA2082851885 | BRCA2 | c.7065_7067delinsATT (p.Glu2355=) c.6696_6698delinsATT (p.Glu2232=) n.7065_7067delinsATT c.6969_6971delinsATT (p.Glu2323=) | |
| 13 | g.32354919T>A | CA387738358 | BRCA2 | c.7066T>A (p.Phe2356Ile) c.6697T>A (p.Phe2233Ile) n.7066T>A c.6970T>A (p.Phe2324Ile) | dbSNP |
| 13 | g.32354919T>C | CA387738361 | BRCA2 | c.7066T>C (p.Phe2356Leu) c.6697T>C (p.Phe2233Leu) n.7066T>C c.6970T>C (p.Phe2324Leu) | |
| 13 | g.32354919T>G | CA338479 | BRCA2 | c.7066T>G (p.Phe2356Val) c.6697T>G (p.Phe2233Val) n.7066T>G c.6970T>G (p.Phe2324Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32354919T= | CA2082851900 | BRCA2 | c.7066T= (p.Phe2356=) c.6697T= (p.Phe2233=) n.7066T= c.6970T= (p.Phe2324=) | |
| 13 | g.32354921dup | CA658823681 | BRCA2 | c.7068dup (p.Leu2357SerfsTer3) c.6699dup (p.Leu2234SerfsTer3) n.7068dup c.6972dup (p.Leu2325SerfsTer3) | ClinVar dbSNP |
| 13 | g.32354920_32354921del | CA024828 | BRCA2 | c.7067_7068del (p.Phe2356SerfsTer3) c.6698_6699del (p.Phe2233SerfsTer3) n.7067_7068del c.6971_6972del (p.Phe2324SerfsTer3) | ClinVar dbSNP |
| 13 | g.32354920T>A | CA024832 | BRCA2 | c.7067T>A (p.Phe2356Tyr) c.6698T>A (p.Phe2233Tyr) n.7067T>A c.6971T>A (p.Phe2324Tyr) | ClinVar dbSNP |
| 13 | g.32354920T>C | CA387738366 | BRCA2 | c.7067T>C (p.Phe2356Ser) c.6698T>C (p.Phe2233Ser) n.7067T>C c.6971T>C (p.Phe2324Ser) | |
| 13 | g.32354920T>G | CA387738368 | BRCA2 | c.7067T>G (p.Phe2356Cys) c.6698T>G (p.Phe2233Cys) n.7067T>G c.6971T>G (p.Phe2324Cys) | |
| 13 | g.32354920T= | CA2082851907 | BRCA2 | c.7067T= (p.Phe2356=) c.6698T= (p.Phe2233=) n.7067T= c.6971T= (p.Phe2324=) | |
| 13 | g.32354920_32354922delinsTTC | CA2082851906 | BRCA2 | c.7067_7069delinsTTC (p.Phe2356=) c.6698_6700delinsTTC (p.Phe2233=) n.7067_7069delinsTTC c.6971_6973delinsTTC (p.Phe2324=) | |
| 13 | g.32354921T>A | CA387738378 | BRCA2 | c.7068T>A (p.Phe2356Leu) c.6699T>A (p.Phe2233Leu) n.7068T>A c.6972T>A (p.Phe2324Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32354921T>C | CA483439368 | BRCA2 | c.7068T>C (p.Phe2356=) c.6699T>C (p.Phe2233=) n.7068T>C c.6972T>C (p.Phe2324=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32354921T>G | CA387738373 | BRCA2 | c.7068T>G (p.Phe2356Leu) c.6699T>G (p.Phe2233Leu) n.7068T>G c.6972T>G (p.Phe2324Leu) | ClinVar dbSNP |
| 13 | g.32354921T= | CA2082851915 | BRCA2 | c.7068T= (p.Phe2356=) c.6699T= (p.Phe2233=) n.7068T= c.6972T= (p.Phe2324=) | |
| 13 | g.32354922_32354923del | CA024835 | BRCA2 | c.7069_7070del (p.Leu2357ValfsTer2) c.6700_6701del (p.Leu2234ValfsTer2) n.7069_7070del c.6973_6974del (p.Leu2325ValfsTer2) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32354922C>A | CA387738380 | BRCA2 | c.7069C>A (p.Leu2357Met) c.6700C>A (p.Leu2234Met) n.7069C>A c.6973C>A (p.Leu2325Met) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32354922C= | CA2082808535 | BRCA2 | c.7069C= (p.Leu2357=) c.6700C= (p.Leu2234=) n.7069C= c.6973C= (p.Leu2325=) | |
| 13 | g.32354922C>G | CA387738383 | BRCA2 | c.7069C>G (p.Leu2357Val) c.6700C>G (p.Leu2234Val) n.7069C>G c.6973C>G (p.Leu2325Val) | ClinVar dbSNP |
| 13 | g.32354922C>T | CA483439369 | BRCA2 | c.7069C>T (p.Leu2357=) c.6700C>T (p.Leu2234=) n.7069C>T c.6973C>T (p.Leu2325=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.32354923T>A | CA387738386 | BRCA2 | c.7070T>A (p.Leu2357Gln) c.6701T>A (p.Leu2234Gln) n.7070T>A c.6974T>A (p.Leu2325Gln) | |
| 13 | g.32354923T>C | CA387738389 | BRCA2 | c.7070T>C (p.Leu2357Pro) c.6701T>C (p.Leu2234Pro) n.7070T>C c.6974T>C (p.Leu2325Pro) | |
| 13 | g.32354923T>G | CA387738391 | BRCA2 | c.7070T>G (p.Leu2357Arg) c.6701T>G (p.Leu2234Arg) n.7070T>G c.6974T>G (p.Leu2325Arg) | |
| 13 | g.32354924G>A | CA483439371 | BRCA2 | c.7071G>A (p.Leu2357=) c.6702G>A (p.Leu2234=) n.7071G>A c.6975G>A (p.Leu2325=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32354924G>C | CA247468265 | BRCA2 | c.7071G>C (p.Leu2357=) c.6702G>C (p.Leu2234=) n.7071G>C c.6975G>C (p.Leu2325=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32354924G= | CA2082808548 | BRCA2 | c.7071G= (p.Leu2357=) c.6702G= (p.Leu2234=) n.7071G= c.6975G= (p.Leu2325=) | |
| 13 | g.32354924G>T | CA10579721 | BRCA2 | c.7071G>T (p.Leu2357=) c.6702G>T (p.Leu2234=) n.7071G>T c.6975G>T (p.Leu2325=) | ClinVar dbSNP |
| 13 | g.32354925T>A | CA387738401 | BRCA2 | c.7072T>A (p.Ser2358Thr) c.6703T>A (p.Ser2235Thr) n.7072T>A c.6976T>A (p.Ser2326Thr) | dbSNP |
| 13 | g.32354925T>C | CA024838 | BRCA2 | c.7072T>C (p.Ser2358Pro) c.6703T>C (p.Ser2235Pro) n.7072T>C c.6976T>C (p.Ser2326Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32354925T>G | CA387738409 | BRCA2 | c.7072T>G (p.Ser2358Ala) c.6703T>G (p.Ser2235Ala) n.7072T>G c.6976T>G (p.Ser2326Ala) | |
| 13 | g.32354925T= | CA2082808559 | BRCA2 | c.7072T= (p.Ser2358=) c.6703T= (p.Ser2235=) n.7072T= c.6976T= (p.Ser2326=) | |
| 13 | g.32354925_32354928delinsCCT | CA2580087382 | BRCA2 | c.7072_7075delinsCCT (p.Ser2358ProfsTer9) c.6703_6706delinsCCT (p.Ser2235ProfsTer9) n.7072_7075delinsCCT c.6976_6979delinsCCT (p.Ser2326ProfsTer9) | ClinVar |
| 13 | g.32354926C>A | CA387738413 | BRCA2 | c.7073C>A (p.Ser2358Tyr) c.6704C>A (p.Ser2235Tyr) n.7073C>A c.6977C>A (p.Ser2326Tyr) | ClinVar dbSNP |
| 13 | g.32354926C= | CA2082808572 | BRCA2 | c.7073C= (p.Ser2358=) c.6704C= (p.Ser2235=) n.7073C= c.6977C= (p.Ser2326=) | |
| 13 | g.32354926C>G | CA024841 | BRCA2 | c.7073C>G (p.Ser2358Cys) c.6704C>G (p.Ser2235Cys) n.7073C>G c.6977C>G (p.Ser2326Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32354926C>T | CA387738415 | BRCA2 | c.7073C>T (p.Ser2358Phe) c.6704C>T (p.Ser2235Phe) n.7073C>T c.6977C>T (p.Ser2326Phe) | dbSNP |
| 13 | g.32354927T>A | CA483439373 | BRCA2 | c.7074T>A (p.Ser2358=) c.6705T>A (p.Ser2235=) n.7074T>A c.6978T>A (p.Ser2326=) | |
| 13 | g.32354927T>C | CA483439374 | BRCA2 | c.7074T>C (p.Ser2358=) c.6705T>C (p.Ser2235=) n.7074T>C c.6978T>C (p.Ser2326=) | |
| 13 | g.32354927T>G | CA483439375 | BRCA2 | c.7074T>G (p.Ser2358=) c.6705T>G (p.Ser2235=) n.7074T>G c.6978T>G (p.Ser2326=) | ClinVar |
| 13 | g.32354928A>C | CA387738419 | BRCA2 | c.7075A>C (p.Lys2359Gln) c.6706A>C (p.Lys2236Gln) n.7075A>C c.6979A>C (p.Lys2327Gln) | |
| 13 | g.32354928A>G | CA387738421 | BRCA2 | c.7075A>G (p.Lys2359Glu) c.6706A>G (p.Lys2236Glu) n.7075A>G c.6979A>G (p.Lys2327Glu) | ClinVar |
| 13 | g.32354928A>T | CA387738423 | BRCA2 | c.7075A>T (p.Lys2359Ter) c.6706A>T (p.Lys2236Ter) n.7075A>T c.6979A>T (p.Lys2327Ter) | ClinVar dbSNP |
| 13 | g.32354930dup | CA2580087383 | BRCA2 | c.7077dup (p.Ser2360IlefsTer5) c.6708dup (p.Ser2237IlefsTer5) n.7077dup c.6981dup (p.Ser2328IlefsTer5) | ClinVar |
| 13 | g.32354930del | CA2739277506 | BRCA2 | c.7077del (p.Lys2359AsnfsTer8) c.6708del (p.Lys2236AsnfsTer8) n.7077del c.6981del (p.Lys2327AsnfsTer8) | ClinVar |
| 13 | g.32354929A>C | CA387738425 | BRCA2 | c.7076A>C (p.Lys2359Thr) c.6707A>C (p.Lys2236Thr) n.7076A>C c.6980A>C (p.Lys2327Thr) | |
| 13 | g.32354929A>G | CA387738427 | BRCA2 | c.7076A>G (p.Lys2359Arg) c.6707A>G (p.Lys2236Arg) n.7076A>G c.6980A>G (p.Lys2327Arg) | |
| 13 | g.32354929A>T | CA387738430 | BRCA2 | c.7076A>T (p.Lys2359Ile) c.6707A>T (p.Lys2236Ile) n.7076A>T c.6980A>T (p.Lys2327Ile) | dbSNP |
| 13 | g.32354930A>C | CA387738432 | BRCA2 | c.7077A>C (p.Lys2359Asn) c.6708A>C (p.Lys2236Asn) n.7077A>C c.6981A>C (p.Lys2327Asn) | |
| 13 | g.32354930A>G | CA483439376 | BRCA2 | c.7077A>G (p.Lys2359=) c.6708A>G (p.Lys2236=) n.7077A>G c.6981A>G (p.Lys2327=) | |
| 13 | g.32354930A>T | CA387738434 | BRCA2 | c.7077A>T (p.Lys2359Asn) c.6708A>T (p.Lys2236Asn) n.7077A>T c.6981A>T (p.Lys2327Asn) | dbSNP |
| 13 | g.32354931T>A | CA387738437 | BRCA2 | c.7078T>A (p.Ser2360Thr) c.6709T>A (p.Ser2237Thr) n.7078T>A c.6982T>A (p.Ser2328Thr) | dbSNP |
| 13 | g.32354931T>C | CA387738439 | BRCA2 | c.7078T>C (p.Ser2360Pro) c.6709T>C (p.Ser2237Pro) n.7078T>C c.6982T>C (p.Ser2328Pro) | ClinVar dbSNP |
| 13 | g.32354931T>G | CA387738443 | BRCA2 | c.7078T>G (p.Ser2360Ala) c.6709T>G (p.Ser2237Ala) n.7078T>G c.6982T>G (p.Ser2328Ala) | |
| 13 | g.32354931T= | CA2082808581 | BRCA2 | c.7078T= (p.Ser2360=) c.6709T= (p.Ser2237=) n.7078T= c.6982T= (p.Ser2328=) | |
| 13 | g.32354932C>A | CA387738453 | BRCA2 | c.7079C>A (p.Ser2360Tyr) c.6710C>A (p.Ser2237Tyr) n.7079C>A c.6983C>A (p.Ser2328Tyr) | dbSNP |
| 13 | g.32354932C>G | CA387738448 | BRCA2 | c.7079C>G (p.Ser2360Cys) c.6710C>G (p.Ser2237Cys) n.7079C>G c.6983C>G (p.Ser2328Cys) | dbSNP |
| 13 | g.32354932C>T | CA387738450 | BRCA2 | c.7079C>T (p.Ser2360Phe) c.6710C>T (p.Ser2237Phe) n.7079C>T c.6983C>T (p.Ser2328Phe) | dbSNP |
| 13 | g.32354933T>A | CA483439379 | BRCA2 | c.7080T>A (p.Ser2360=) c.6711T>A (p.Ser2237=) n.7080T>A c.6984T>A (p.Ser2328=) | |
| 13 | g.32354933T>C | CA483439380 | BRCA2 | c.7080T>C (p.Ser2360=) c.6711T>C (p.Ser2237=) n.7080T>C c.6984T>C (p.Ser2328=) | |
| 13 | g.32354933T>G | CA483439381 | BRCA2 | c.7080T>G (p.Ser2360=) c.6711T>G (p.Ser2237=) n.7080T>G c.6984T>G (p.Ser2328=) | |
| 13 | g.32354933T= | CA2082808585 | BRCA2 | c.7080T= (p.Ser2360=) c.6711T= (p.Ser2237=) n.7080T= c.6984T= (p.Ser2328=) | |
| 13 | g.32354934C>A | CA387738457 | BRCA2 | c.7081C>A (p.His2361Asn) c.6712C>A (p.His2238Asn) n.7081C>A c.6985C>A (p.His2329Asn) | dbSNP |
| 13 | g.32354934C= | CA2082808625 | BRCA2 | c.7081C= (p.His2361=) c.6712C= (p.His2238=) n.7081C= c.6985C= (p.His2329=) | |
| 13 | g.32354934C>G | CA387738459 | BRCA2 | c.7081C>G (p.His2361Asp) c.6712C>G (p.His2238Asp) n.7081C>G c.6985C>G (p.His2329Asp) | dbSNP |
| 13 | g.32354934C>T | CA024848 | BRCA2 | c.7081C>T (p.His2361Tyr) c.6712C>T (p.His2238Tyr) n.7081C>T c.6985C>T (p.His2329Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32354934_32354944delinsCATTTGTATGA | CA2082808632 | BRCA2 | c.7081_7091delinsCATTTGTATGA (p.His2361=) c.6712_6722delinsCATTTGTATGA (p.His2238=) n.7081_7091delinsCATTTGTATGA c.6985_6995delinsCATTTGTATGA (p.His2329=) | |
| 13 | g.32354935_32354953dup | CA325947 | BRCA2 | c.7082_7100dup (p.Leu2368PhefsTer3) c.6713_6731dup (p.Leu2245PhefsTer3) n.7082_7100dup c.6986_7004dup (p.Leu2336PhefsTer3) | ClinVar dbSNP |
| 13 | g.32354935A= | CA2082808648 | BRCA2 | c.7082A= (p.His2361=) c.6713A= (p.His2238=) n.7082A= c.6986A= (p.His2329=) | |
| 13 | g.32354935A>C | CA387738469 | BRCA2 | c.7082A>C (p.His2361Pro) c.6713A>C (p.His2238Pro) n.7082A>C c.6986A>C (p.His2329Pro) | ClinVar dbSNP |
| 13 | g.32354935A>G | CA16619757 | BRCA2 | c.7082A>G (p.His2361Arg) c.6713A>G (p.His2238Arg) n.7082A>G c.6986A>G (p.His2329Arg) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32354935A>T | CA10579722 | BRCA2 | c.7082A>T (p.His2361Leu) c.6713A>T (p.His2238Leu) n.7082A>T c.6986A>T (p.His2329Leu) | ClinVar dbSNP |
| 13 | g.32354936_32354945del | CA10586568 | BRCA2 | c.7083_7092del (p.Leu2362IlefsTer2) c.6714_6723del (p.Leu2239IlefsTer2) n.7083_7092del c.6987_6996del (p.Leu2330IlefsTer2) | ClinVar dbSNP |
| 13 | g.32354936T>A | CA387738482 | BRCA2 | c.7083T>A (p.His2361Gln) c.6714T>A (p.His2238Gln) n.7083T>A c.6987T>A (p.His2329Gln) | dbSNP |
| 13 | g.32354936T>C | CA483439383 | BRCA2 | c.7083T>C (p.His2361=) c.6714T>C (p.His2238=) n.7083T>C c.6987T>C (p.His2329=) | ClinVar dbSNP |
| 13 | g.32354936T>G | CA387738490 | BRCA2 | c.7083T>G (p.His2361Gln) c.6714T>G (p.His2238Gln) n.7083T>G c.6987T>G (p.His2329Gln) | |
| 13 | g.32354936T= | CA2082808659 | BRCA2 | c.7083T= (p.His2361=) c.6714T= (p.His2238=) n.7083T= c.6987T= (p.His2329=) | |
| 13 | g.32354938del | CA645593675 | BRCA2 | c.7085del (p.Leu2362CysfsTer5) c.6716del (p.Leu2239CysfsTer5) n.7085del c.6989del (p.Leu2330CysfsTer5) | COSMIC COSMIC |
| 13 | g.32354937_32354938del | CA2739291774 | BRCA2 | c.7084_7085del (p.Leu2362ValfsTer2) c.6715_6716del (p.Leu2239ValfsTer2) n.7084_7085del c.6988_6989del (p.Leu2330ValfsTer2) | |
| 13 | g.32354937T>A | CA387738493 | BRCA2 | c.7084T>A (p.Leu2362Met) c.6715T>A (p.Leu2239Met) n.7084T>A c.6988T>A (p.Leu2330Met) | |
| 13 | g.32354937T>C | CA483439384 | BRCA2 | c.7084T>C (p.Leu2362=) c.6715T>C (p.Leu2239=) n.7084T>C c.6988T>C (p.Leu2330=) | ClinVar dbSNP |
| 13 | g.32354937T>G | CA387738496 | BRCA2 | c.7084T>G (p.Leu2362Val) c.6715T>G (p.Leu2239Val) n.7084T>G c.6988T>G (p.Leu2330Val) | ClinVar dbSNP |
| 13 | g.32354937T= | CA2082808700 | BRCA2 | c.7084T= (p.Leu2362=) c.6715T= (p.Leu2239=) n.7084T= c.6988T= (p.Leu2330=) | |
| 13 | g.32354938T>A | CA387738499 | BRCA2 | c.7085T>A (p.Leu2362Ter) c.6716T>A (p.Leu2239Ter) n.7085T>A c.6989T>A (p.Leu2330Ter) | dbSNP |
| 13 | g.32354938T>C | CA387738505 | BRCA2 | c.7085T>C (p.Leu2362Ser) c.6716T>C (p.Leu2239Ser) n.7085T>C c.6989T>C (p.Leu2330Ser) | |
| 13 | g.32354938T>G | CA387738502 | BRCA2 | c.7085T>G (p.Leu2362Trp) c.6716T>G (p.Leu2239Trp) n.7085T>G c.6989T>G (p.Leu2330Trp) | |
| 13 | g.32354939G>A | CA16606696 | BRCA2 | c.7086G>A (p.Leu2362=) c.6717G>A (p.Leu2239=) n.7086G>A c.6990G>A (p.Leu2330=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32354939G>C | CA387738508 | BRCA2 | c.7086G>C (p.Leu2362Phe) c.6717G>C (p.Leu2239Phe) n.7086G>C c.6990G>C (p.Leu2330Phe) | dbSNP |
| 13 | g.32354939G= | CA2082808713 | BRCA2 | c.7086G= (p.Leu2362=) c.6717G= (p.Leu2239=) n.7086G= c.6990G= (p.Leu2330=) | |
| 13 | g.32354939G>T | CA387738516 | BRCA2 | c.7086G>T (p.Leu2362Phe) c.6717G>T (p.Leu2239Phe) n.7086G>T c.6990G>T (p.Leu2330Phe) | dbSNP |
| 13 | g.32354940T>A | CA387738519 | BRCA2 | c.7087T>A (p.Tyr2363Asn) c.6718T>A (p.Tyr2240Asn) n.7087T>A c.6991T>A (p.Tyr2331Asn) | dbSNP |
| 13 | g.32354940T>C | CA387738522 | BRCA2 | c.7087T>C (p.Tyr2363His) c.6718T>C (p.Tyr2240His) n.7087T>C c.6991T>C (p.Tyr2331His) | ClinVar dbSNP |
| 13 | g.32354940T>G | CA387738524 | BRCA2 | c.7087T>G (p.Tyr2363Asp) c.6718T>G (p.Tyr2240Asp) n.7087T>G c.6991T>G (p.Tyr2331Asp) | dbSNP |
| 13 | g.32354941A= | CA2082808717 | BRCA2 | c.7088A= (p.Tyr2363=) c.6719A= (p.Tyr2240=) n.7088A= c.6992A= (p.Tyr2331=) | |
| 13 | g.32354941A>C | CA387738526 | BRCA2 | c.7088A>C (p.Tyr2363Ser) c.6719A>C (p.Tyr2240Ser) n.7088A>C c.6992A>C (p.Tyr2331Ser) | |
| 13 | g.32354941A>G | CA024851 | BRCA2 | c.7088A>G (p.Tyr2363Cys) c.6719A>G (p.Tyr2240Cys) n.7088A>G c.6992A>G (p.Tyr2331Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32354941A>T | CA387738529 | BRCA2 | c.7088A>T (p.Tyr2363Phe) c.6719A>T (p.Tyr2240Phe) n.7088A>T c.6992A>T (p.Tyr2331Phe) | dbSNP |
| 13 | g.32354942T>A | CA387738530 | BRCA2 | c.7089T>A (p.Tyr2363Ter) c.6720T>A (p.Tyr2240Ter) n.7089T>A c.6993T>A (p.Tyr2331Ter) | ClinVar dbSNP |
| 13 | g.32354942T>C | CA483439387 | BRCA2 | c.7089T>C (p.Tyr2363=) c.6720T>C (p.Tyr2240=) n.7089T>C c.6993T>C (p.Tyr2331=) | |
| 13 | g.32354942T>G | CA387738531 | BRCA2 | c.7089T>G (p.Tyr2363Ter) c.6720T>G (p.Tyr2240Ter) n.7089T>G c.6993T>G (p.Tyr2331Ter) | ClinVar dbSNP |
| 13 | g.32354943G>A | CA024858 | BRCA2 | c.7090G>A (p.Glu2364Lys) c.6721G>A (p.Glu2241Lys) n.7090G>A c.6994G>A (p.Glu2332Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32354943G>C | CA387738532 | BRCA2 | c.7090G>C (p.Glu2364Gln) c.6721G>C (p.Glu2241Gln) n.7090G>C c.6994G>C (p.Glu2332Gln) | dbSNP |
| 13 | g.32354943G= | CA2082808738 | BRCA2 | c.7090G= (p.Glu2364=) c.6721G= (p.Glu2241=) n.7090G= c.6994G= (p.Glu2332=) | |
| 13 | g.32354943G>T | CA10589411 | BRCA2 | c.7090G>T (p.Glu2364Ter) c.6721G>T (p.Glu2241Ter) n.7090G>T c.6994G>T (p.Glu2332Ter) | ClinVar dbSNP |
| 13 | g.32354943_32354944delinsGA | CA2082808733 | BRCA2 | c.7090_7091delinsGA (p.Glu2364=) c.6721_6722delinsGA (p.Glu2241=) n.7090_7091delinsGA c.6994_6995delinsGA (p.Glu2332=) | |
| 13 | g.32354944A>C | CA387738534 | BRCA2 | c.7091A>C (p.Glu2364Ala) c.6722A>C (p.Glu2241Ala) n.7091A>C c.6995A>C (p.Glu2332Ala) | |
| 13 | g.32354944A>G | CA387738536 | BRCA2 | c.7091A>G (p.Glu2364Gly) c.6722A>G (p.Glu2241Gly) n.7091A>G c.6995A>G (p.Glu2332Gly) | |
| 13 | g.32354944A>T | CA387738538 | BRCA2 | c.7091A>T (p.Glu2364Val) c.6722A>T (p.Glu2241Val) n.7091A>T c.6995A>T (p.Glu2332Val) | dbSNP |
| 13 | g.32354945del | CA024861 | BRCA2 | c.7092del (p.Glu2364AspfsTer3) c.6723del (p.Glu2241AspfsTer3) n.7092del c.6996del (p.Glu2332AspfsTer3) | ClinVar dbSNP |
| 13 | g.32354945A>C | CA387738540 | BRCA2 | c.7092A>C (p.Glu2364Asp) c.6723A>C (p.Glu2241Asp) n.7092A>C c.6996A>C (p.Glu2332Asp) | dbSNP |
| 13 | g.32354945A>G | CA483439389 | BRCA2 | c.7092A>G (p.Glu2364=) c.6723A>G (p.Glu2241=) n.7092A>G c.6996A>G (p.Glu2332=) | ClinVar dbSNP |
| 13 | g.32354945A>T | CA387738541 | BRCA2 | c.7092A>T (p.Glu2364Asp) c.6723A>T (p.Glu2241Asp) n.7092A>T c.6996A>T (p.Glu2332Asp) | dbSNP |
| 13 | g.32354946del | CA2580087388 | BRCA2 | c.7093del (p.His2365IlefsTer2) c.6724del (p.His2242IlefsTer2) n.7093del c.6997del (p.His2333IlefsTer2) | ClinVar |
| 13 | g.32354946C>A | CA387738543 | BRCA2 | c.7093C>A (p.His2365Asn) c.6724C>A (p.His2242Asn) n.7093C>A c.6997C>A (p.His2333Asn) | dbSNP |
| 13 | g.32354946C= | CA2082808750 | BRCA2 | c.7093C= (p.His2365=) c.6724C= (p.His2242=) n.7093C= c.6997C= (p.His2333=) | |
| 13 | g.32354946C>G | CA387738546 | BRCA2 | c.7093C>G (p.His2365Asp) c.6724C>G (p.His2242Asp) n.7093C>G c.6997C>G (p.His2333Asp) | dbSNP |
| 13 | g.32354946C>T | CA10579723 | BRCA2 | c.7093C>T (p.His2365Tyr) c.6724C>T (p.His2242Tyr) n.7093C>T c.6997C>T (p.His2333Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32354947A>C | CA387738550 | BRCA2 | c.7094A>C (p.His2365Pro) c.6725A>C (p.His2242Pro) n.7094A>C c.6998A>C (p.His2333Pro) | dbSNP |
| 13 | g.32354947A>G | CA387738551 | BRCA2 | c.7094A>G (p.His2365Arg) c.6725A>G (p.His2242Arg) n.7094A>G c.6998A>G (p.His2333Arg) | |
| 13 | g.32354947A>T | CA387738549 | BRCA2 | c.7094A>T (p.His2365Leu) c.6725A>T (p.His2242Leu) n.7094A>T c.6998A>T (p.His2333Leu) | dbSNP |
| 13 | g.32354948T>A | CA339258 | BRCA2 | c.7095T>A (p.His2365Gln) c.6726T>A (p.His2242Gln) n.7095T>A c.6999T>A (p.His2333Gln) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32354948T>C | CA483439393 | BRCA2 | c.7095T>C (p.His2365=) c.6726T>C (p.His2242=) n.7095T>C c.6999T>C (p.His2333=) | ClinVar |
| 13 | g.32354948T>G | CA387738552 | BRCA2 | c.7095T>G (p.His2365Gln) c.6726T>G (p.His2242Gln) n.7095T>G c.6999T>G (p.His2333Gln) | |
| 13 | g.32354948T= | CA2082808762 | BRCA2 | c.7095T= (p.His2365=) c.6726T= (p.His2242=) n.7095T= c.6999T= (p.His2333=) | |
| 13 | g.32354949C>A | CA387738553 | BRCA2 | c.7096C>A (p.Leu2366Met) c.6727C>A (p.Leu2243Met) n.7096C>A c.7000C>A (p.Leu2334Met) | dbSNP |
| 13 | g.32354949C= | CA2082808774 | BRCA2 | c.7096C= (p.Leu2366=) c.6727C= (p.Leu2243=) n.7096C= c.7000C= (p.Leu2334=) | |
| 13 | g.32354949C>G | CA024864 | BRCA2 | c.7096C>G (p.Leu2366Val) c.6727C>G (p.Leu2243Val) n.7096C>G c.7000C>G (p.Leu2334Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32354949C>T | CA483439394 | BRCA2 | c.7096C>T (p.Leu2366=) c.6727C>T (p.Leu2243=) n.7096C>T c.7000C>T (p.Leu2334=) | ClinVar dbSNP |
| 13 | g.32354950del | CA2580087391 | BRCA2 | c.7097del (p.Leu2366ArgfsTer10) c.6728del (p.Leu2243ArgfsTer10) n.7097del c.7001del (p.Leu2334ArgfsTer10) | ClinVar |
| 13 | g.32354950T>A | CA387738557 | BRCA2 | c.7097T>A (p.Leu2366Gln) c.6728T>A (p.Leu2243Gln) n.7097T>A c.7001T>A (p.Leu2334Gln) | dbSNP |
| 13 | g.32354950T>C | CA387738558 | BRCA2 | c.7097T>C (p.Leu2366Pro) c.6728T>C (p.Leu2243Pro) n.7097T>C c.7001T>C (p.Leu2334Pro) | |
| 13 | g.32354950T>G | CA387738560 | BRCA2 | c.7097T>G (p.Leu2366Arg) c.6728T>G (p.Leu2243Arg) n.7097T>G c.7001T>G (p.Leu2334Arg) | |
| 13 | g.32354950dup | CA193532 | BRCA2 | c.7097dup (p.Thr2367AspfsTer25) c.6728dup (p.Thr2244AspfsTer25) n.7097dup c.7001dup (p.Thr2335AspfsTer25) | ClinVar dbSNP |
| 13 | g.32354951G>A | CA6941057 | BRCA2 | c.7098G>A (p.Leu2366=) c.6729G>A (p.Leu2243=) n.7098G>A c.7002G>A (p.Leu2334=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32354951G>C | CA483439398 | BRCA2 | c.7098G>C (p.Leu2366=) c.6729G>C (p.Leu2243=) n.7098G>C c.7002G>C (p.Leu2334=) | dbSNP |
| 13 | g.32354951G= | CA2082808789 | BRCA2 | c.7098G= (p.Leu2366=) c.6729G= (p.Leu2243=) n.7098G= c.7002G= (p.Leu2334=) | |
| 13 | g.32354951G>T | CA483439399 | BRCA2 | c.7098G>T (p.Leu2366=) c.6729G>T (p.Leu2243=) n.7098G>T c.7002G>T (p.Leu2334=) | dbSNP |
| 13 | g.32354952A>C | CA387738565 | BRCA2 | c.7099A>C (p.Thr2367Pro) c.6730A>C (p.Thr2244Pro) n.7099A>C c.7003A>C (p.Thr2335Pro) | |
| 13 | g.32354952A>G | CA387738566 | BRCA2 | c.7099A>G (p.Thr2367Ala) c.6730A>G (p.Thr2244Ala) n.7099A>G c.7003A>G (p.Thr2335Ala) | |
| 13 | g.32354952A>T | CA387738567 | BRCA2 | c.7099A>T (p.Thr2367Ser) c.6730A>T (p.Thr2244Ser) n.7099A>T c.7003A>T (p.Thr2335Ser) | dbSNP |
| 13 | g.32354953C>A | CA387738569 | BRCA2 | c.7100C>A (p.Thr2367Asn) c.6731C>A (p.Thr2244Asn) n.7100C>A c.7004C>A (p.Thr2335Asn) | dbSNP |
| 13 | g.32354953C= | CA2082808799 | BRCA2 | c.7100C= (p.Thr2367=) c.6731C= (p.Thr2244=) n.7100C= c.7004C= (p.Thr2335=) | |
| 13 | g.32354953C>G | CA387738568 | BRCA2 | c.7100C>G (p.Thr2367Ser) c.6731C>G (p.Thr2244Ser) n.7100C>G c.7004C>G (p.Thr2335Ser) | ClinVar dbSNP |
| 13 | g.32354953C>T | CA6941058 | BRCA2 | c.7100C>T (p.Thr2367Ile) c.6731C>T (p.Thr2244Ile) n.7100C>T c.7004C>T (p.Thr2335Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32354954T>A | CA483439401 | BRCA2 | c.7101T>A (p.Thr2367=) c.6732T>A (p.Thr2244=) n.7101T>A c.7005T>A (p.Thr2335=) | dbSNP |
| 13 | g.32354954T>C | CA483439402 | BRCA2 | c.7101T>C (p.Thr2367=) c.6732T>C (p.Thr2244=) n.7101T>C c.7005T>C (p.Thr2335=) | |
| 13 | g.32354954T>G | CA483439403 | BRCA2 | c.7101T>G (p.Thr2367=) c.6732T>G (p.Thr2244=) n.7101T>G c.7005T>G (p.Thr2335=) | |
| 13 | g.32354956del | CA2580087392 | BRCA2 | c.7103del (p.Leu2368TrpfsTer8) c.6734del (p.Leu2245TrpfsTer8) n.7103del c.7007del (p.Leu2336TrpfsTer8) | ClinVar |
| 13 | g.32354955T>A | CA387738570 | BRCA2 | c.7102T>A (p.Leu2368Met) c.6733T>A (p.Leu2245Met) n.7102T>A c.7006T>A (p.Leu2336Met) | |
| 13 | g.32354955T>C | CA483439404 | BRCA2 | c.7102T>C (p.Leu2368=) c.6733T>C (p.Leu2245=) n.7102T>C c.7006T>C (p.Leu2336=) | |
| 13 | g.32354955T>G | CA024871 | BRCA2 | c.7102T>G (p.Leu2368Val) c.6733T>G (p.Leu2245Val) n.7102T>G c.7006T>G (p.Leu2336Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32354955T= | CA2082808810 | BRCA2 | c.7102T= (p.Leu2368=) c.6733T= (p.Leu2245=) n.7102T= c.7006T= (p.Leu2336=) | |
| 13 | g.32354956T>A | CA387738573 | BRCA2 | c.7103T>A (p.Leu2368Ter) c.6734T>A (p.Leu2245Ter) n.7103T>A c.7007T>A (p.Leu2336Ter) | |
| 13 | g.32354956T>C | CA387738575 | BRCA2 | c.7103T>C (p.Leu2368Ser) c.6734T>C (p.Leu2245Ser) n.7103T>C c.7007T>C (p.Leu2336Ser) | ClinVar dbSNP |
| 13 | g.32354956T>G | CA387738576 | BRCA2 | c.7103T>G (p.Leu2368Trp) c.6734T>G (p.Leu2245Trp) n.7103T>G c.7007T>G (p.Leu2336Trp) | ClinVar |
| 13 | g.32354956T= | CA2082808815 | BRCA2 | c.7103T= (p.Leu2368=) c.6734T= (p.Leu2245=) n.7103T= c.7007T= (p.Leu2336=) | |
| 13 | g.32354957G>A | CA6941059 | BRCA2 | c.7104G>A (p.Leu2368=) c.6735G>A (p.Leu2245=) n.7104G>A c.7008G>A (p.Leu2336=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32354957G>C | CA387738581 | BRCA2 | c.7104G>C (p.Leu2368Phe) c.6735G>C (p.Leu2245Phe) n.7104G>C c.7008G>C (p.Leu2336Phe) | |
| 13 | g.32354957G= | CA2082808822 | BRCA2 | c.7104G= (p.Leu2368=) c.6735G= (p.Leu2245=) n.7104G= c.7008G= (p.Leu2336=) | |
| 13 | g.32354957G>T | CA387738583 | BRCA2 | c.7104G>T (p.Leu2368Phe) c.6735G>T (p.Leu2245Phe) n.7104G>T c.7008G>T (p.Leu2336Phe) | |
| 13 | g.32354958G>A | CA387738587 | BRCA2 | c.7105G>A (p.Glu2369Lys) c.6736G>A (p.Glu2246Lys) n.7105G>A c.7009G>A (p.Glu2337Lys) | dbSNP |
| 13 | g.32354958G>C | CA387738588 | BRCA2 | c.7105G>C (p.Glu2369Gln) c.6736G>C (p.Glu2246Gln) n.7105G>C c.7009G>C (p.Glu2337Gln) | dbSNP |
| 13 | g.32354958G>T | CA387738590 | BRCA2 | c.7105G>T (p.Glu2369Ter) c.6736G>T (p.Glu2246Ter) n.7105G>T c.7009G>T (p.Glu2337Ter) | |
| 13 | g.32354958_32354960delinsGAA | CA2082808848 | BRCA2 | c.7105_7107delinsGAA (p.Glu2369=) c.6736_6738delinsGAA (p.Glu2246=) n.7105_7107delinsGAA c.7009_7011delinsGAA (p.Glu2337=) | |
| 13 | g.32354959A= | CA2082808876 | BRCA2 | c.7106A= (p.Glu2369=) c.6737A= (p.Glu2246=) n.7106A= c.7010A= (p.Glu2337=) | |
| 13 | g.32354959A>C | CA387738598 | BRCA2 | c.7106A>C (p.Glu2369Ala) c.6737A>C (p.Glu2246Ala) n.7106A>C c.7010A>C (p.Glu2337Ala) | |
| 13 | g.32354959A>G | CA387738599 | BRCA2 | c.7106A>G (p.Glu2369Gly) c.6737A>G (p.Glu2246Gly) n.7106A>G c.7010A>G (p.Glu2337Gly) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32354959A>T | CA387738597 | BRCA2 | c.7106A>T (p.Glu2369Val) c.6737A>T (p.Glu2246Val) n.7106A>T c.7010A>T (p.Glu2337Val) | dbSNP |
| 13 | g.32354963dup | CA10589412 | BRCA2 | c.7110dup (p.Ser2371IlefsTer21) c.6741dup (p.Ser2248IlefsTer21) n.7110dup c.7014dup (p.Ser2339IlefsTer21) | ClinVar dbSNP |
| 13 | g.32354963del | CA024879 | BRCA2 | c.7110del (p.Lys2370AsnfsTer6) c.6741del (p.Lys2247AsnfsTer6) n.7110del c.7014del (p.Lys2338AsnfsTer6) | ClinVar dbSNP |
| 13 | g.32354962_32354963del | CA024875 | BRCA2 | c.7109_7110del (p.Lys2370IlefsTer21) c.6740_6741del (p.Lys2247IlefsTer21) n.7109_7110del c.7013_7014del (p.Lys2338IlefsTer21) | ClinVar dbSNP |
| 13 | g.32354960A= | CA2082808890 | BRCA2 | c.7107A= (p.Glu2369=) c.6738A= (p.Glu2246=) n.7107A= c.7011A= (p.Glu2337=) | |
| 13 | g.32354960A>C | CA024873 | BRCA2 | c.7107A>C (p.Glu2369Asp) c.6738A>C (p.Glu2246Asp) n.7107A>C c.7011A>C (p.Glu2337Asp) | ClinVar dbSNP |
| 13 | g.32354960A>G | CA483439408 | BRCA2 | c.7107A>G (p.Glu2369=) c.6738A>G (p.Glu2246=) n.7107A>G c.7011A>G (p.Glu2337=) | |
| 13 | g.32354960A>T | CA387738601 | BRCA2 | c.7107A>T (p.Glu2369Asp) c.6738A>T (p.Glu2246Asp) n.7107A>T c.7011A>T (p.Glu2337Asp) | dbSNP |
| 13 | g.32354961A>C | CA387738612 | BRCA2 | c.7108A>C (p.Lys2370Gln) c.6739A>C (p.Lys2247Gln) n.7108A>C c.7012A>C (p.Lys2338Gln) | |
| 13 | g.32354961A>G | CA387738610 | BRCA2 | c.7108A>G (p.Lys2370Glu) c.6739A>G (p.Lys2247Glu) n.7108A>G c.7012A>G (p.Lys2338Glu) | ClinVar |
| 13 | g.32354961A>T | CA387738607 | BRCA2 | c.7108A>T (p.Lys2370Ter) c.6739A>T (p.Lys2247Ter) n.7108A>T c.7012A>T (p.Lys2338Ter) | |
| 13 | g.32354962A>C | CA387738618 | BRCA2 | c.7109A>C (p.Lys2370Thr) c.6740A>C (p.Lys2247Thr) n.7109A>C c.7013A>C (p.Lys2338Thr) | |
| 13 | g.32354962A>G | CA387738615 | BRCA2 | c.7109A>G (p.Lys2370Arg) c.6740A>G (p.Lys2247Arg) n.7109A>G c.7013A>G (p.Lys2338Arg) | |
| 13 | g.32354962A>T | CA387738620 | BRCA2 | c.7109A>T (p.Lys2370Ile) c.6740A>T (p.Lys2247Ile) n.7109A>T c.7013A>T (p.Lys2338Ile) | dbSNP |
| 13 | g.32354963A= | CA2082808901 | BRCA2 | c.7110A= (p.Lys2370=) c.6741A= (p.Lys2247=) n.7110A= c.7014A= (p.Lys2338=) | |
| 13 | g.32354963A>C | CA387738623 | BRCA2 | c.7110A>C (p.Lys2370Asn) c.6741A>C (p.Lys2247Asn) n.7110A>C c.7014A>C (p.Lys2338Asn) | dbSNP |
| 13 | g.32354963A>G | CA483439410 | BRCA2 | c.7110A>G (p.Lys2370=) c.6741A>G (p.Lys2247=) n.7110A>G c.7014A>G (p.Lys2338=) | ClinVar dbSNP |
| 13 | g.32354963A>T | CA387738625 | BRCA2 | c.7110A>T (p.Lys2370Asn) c.6741A>T (p.Lys2247Asn) n.7110A>T c.7014A>T (p.Lys2338Asn) | ClinVar dbSNP |
| 13 | g.32354964T>A | CA387738629 | BRCA2 | c.7111T>A (p.Ser2371Thr) c.6742T>A (p.Ser2248Thr) n.7111T>A c.7015T>A (p.Ser2339Thr) | dbSNP |
| 13 | g.32354964T>C | CA6941060 | BRCA2 | c.7111T>C (p.Ser2371Pro) c.6742T>C (p.Ser2248Pro) n.7111T>C c.7015T>C (p.Ser2339Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32354964T>G | CA387738634 | BRCA2 | c.7111T>G (p.Ser2371Ala) c.6742T>G (p.Ser2248Ala) n.7111T>G c.7015T>G (p.Ser2339Ala) | |
| 13 | g.32354964T= | CA2082808907 | BRCA2 | c.7111T= (p.Ser2371=) c.6742T= (p.Ser2248=) n.7111T= c.7015T= (p.Ser2339=) | |
| 13 | g.32354964dup | CA2580614666 | BRCA2 | c.7111dup (p.Ser2371PhefsTer21) c.6742dup (p.Ser2248PhefsTer21) n.7111dup c.7015dup (p.Ser2339PhefsTer21) | ClinVar |
| 13 | g.32354965C>A | CA387738636 | BRCA2 | c.7112C>A (p.Ser2371Tyr) c.6743C>A (p.Ser2248Tyr) n.7112C>A c.7016C>A (p.Ser2339Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32354965C= | CA2082808918 | BRCA2 | c.7112C= (p.Ser2371=) c.6743C= (p.Ser2248=) n.7112C= c.7016C= (p.Ser2339=) | |
| 13 | g.32354965C>G | CA387738640 | BRCA2 | c.7112C>G (p.Ser2371Cys) c.6743C>G (p.Ser2248Cys) n.7112C>G c.7016C>G (p.Ser2339Cys) | dbSNP |
| 13 | g.32354965C>T | CA387738644 | BRCA2 | c.7112C>T (p.Ser2371Phe) c.6743C>T (p.Ser2248Phe) n.7112C>T c.7016C>T (p.Ser2339Phe) | dbSNP |
| 13 | g.32354966T>A | CA483439413 | BRCA2 | c.7113T>A (p.Ser2371=) c.6744T>A (p.Ser2248=) n.7113T>A c.7017T>A (p.Ser2339=) | dbSNP |
| 13 | g.32354966T>C | CA483439414 | BRCA2 | c.7113T>C (p.Ser2371=) c.6744T>C (p.Ser2248=) n.7113T>C c.7017T>C (p.Ser2339=) | ClinVar dbSNP |
| 13 | g.32354966T>G | CA483439415 | BRCA2 | c.7113T>G (p.Ser2371=) c.6744T>G (p.Ser2248=) n.7113T>G c.7017T>G (p.Ser2339=) | |
| 13 | g.32354967T>A | CA387738652 | BRCA2 | c.7114T>A (p.Ser2372Thr) c.6745T>A (p.Ser2249Thr) n.7114T>A c.7018T>A (p.Ser2340Thr) | dbSNP |
| 13 | g.32354967T>C | CA387738649 | BRCA2 | c.7114T>C (p.Ser2372Pro) c.6745T>C (p.Ser2249Pro) n.7114T>C c.7018T>C (p.Ser2340Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32354967T>G | CA387738647 | BRCA2 | c.7114T>G (p.Ser2372Ala) c.6745T>G (p.Ser2249Ala) n.7114T>G c.7018T>G (p.Ser2340Ala) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32354967T= | CA2082808950 | BRCA2 | c.7114T= (p.Ser2372=) c.6745T= (p.Ser2249=) n.7114T= c.7018T= (p.Ser2340=) | |
| 13 | g.32354967_32354973delinsTCAAGCA | CA2082808948 | BRCA2 | c.7114_7120delinsTCAAGCA (p.Ser2372=) c.6745_6751delinsTCAAGCA (p.Ser2249=) n.7114_7120delinsTCAAGCA c.7018_7024delinsTCAAGCA (p.Ser2340=) | |
| 13 | g.32354968C>A | CA387738655 | BRCA2 | c.7115C>A (p.Ser2372Ter) c.6746C>A (p.Ser2249Ter) n.7115C>A c.7019C>A (p.Ser2340Ter) | ClinVar dbSNP |
| 13 | g.32354968C= | CA2082808971 | BRCA2 | c.7115C= (p.Ser2372=) c.6746C= (p.Ser2249=) n.7115C= c.7019C= (p.Ser2340=) | |
| 13 | g.32354968C>G | CA024881 | BRCA2 | c.7115C>G (p.Ser2372Ter) c.6746C>G (p.Ser2249Ter) n.7115C>G c.7019C>G (p.Ser2340Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32354968C>T | CA387738668 | BRCA2 | c.7115C>T (p.Ser2372Leu) c.6746C>T (p.Ser2249Leu) n.7115C>T c.7019C>T (p.Ser2340Leu) | ClinVar dbSNP |
| 13 | g.32354968_32354973delinsGC | CA16614348 | BRCA2 | c.7115_7120delinsGC (p.Ser2372CysfsTer3) c.6746_6751delinsGC (p.Ser2249CysfsTer3) n.7115_7120delinsGC c.7019_7024delinsGC (p.Ser2340CysfsTer3) | ClinVar dbSNP |
| 13 | g.32354969A>C | CA483439421 | BRCA2 | c.7116A>C (p.Ser2372=) c.6747A>C (p.Ser2249=) n.7116A>C c.7020A>C (p.Ser2340=) | |
| 13 | g.32354969A>G | CA483439422 | BRCA2 | c.7116A>G (p.Ser2372=) c.6747A>G (p.Ser2249=) n.7116A>G c.7020A>G (p.Ser2340=) | |
| 13 | g.32354969A>T | CA483439423 | BRCA2 | c.7116A>T (p.Ser2372=) c.6747A>T (p.Ser2249=) n.7116A>T c.7020A>T (p.Ser2340=) | dbSNP |
| 13 | g.32354970_32354974del | CA2580087395 | BRCA2 | c.7117_7121del (p.Ser2373PhefsTer17) c.6748_6752del (p.Ser2250PhefsTer17) n.7117_7121del c.7021_7025del (p.Ser2341PhefsTer17) | ClinVar |
| 13 | g.32354970A= | CA2082808983 | BRCA2 | c.7117A= (p.Ser2373=) c.6748A= (p.Ser2250=) n.7117A= c.7021A= (p.Ser2341=) | |
| 13 | g.32354970A>C | CA387738673 | BRCA2 | c.7117A>C (p.Ser2373Arg) c.6748A>C (p.Ser2250Arg) n.7117A>C c.7021A>C (p.Ser2341Arg) | |
| 13 | g.32354970A>G | CA387738675 | BRCA2 | c.7117A>G (p.Ser2373Gly) c.6748A>G (p.Ser2250Gly) n.7117A>G c.7021A>G (p.Ser2341Gly) | ClinVar dbSNP |
| 13 | g.32354970A>T | CA387738694 | BRCA2 | c.7117A>T (p.Ser2373Cys) c.6748A>T (p.Ser2250Cys) n.7117A>T c.7021A>T (p.Ser2341Cys) | dbSNP |
| 13 | g.32354971G>A | CA387738697 | BRCA2 | c.7118G>A (p.Ser2373Asn) c.6749G>A (p.Ser2250Asn) n.7118G>A c.7022G>A (p.Ser2341Asn) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32354971G>C | CA024884 | BRCA2 | c.7118G>C (p.Ser2373Thr) c.6749G>C (p.Ser2250Thr) n.7118G>C c.7022G>C (p.Ser2341Thr) | ClinVar dbSNP |
| 13 | g.32354971G= | CA2082808998 | BRCA2 | c.7118G= (p.Ser2373=) c.6749G= (p.Ser2250=) n.7118G= c.7022G= (p.Ser2341=) | |
| 13 | g.32354971G>T | CA387738702 | BRCA2 | c.7118G>T (p.Ser2373Ile) c.6749G>T (p.Ser2250Ile) n.7118G>T c.7022G>T (p.Ser2341Ile) | dbSNP |
| 13 | g.32354972C>A | CA387738708 | BRCA2 | c.7119C>A (p.Ser2373Arg) c.6750C>A (p.Ser2250Arg) n.7119C>A c.7023C>A (p.Ser2341Arg) | ClinVar dbSNP |
| 13 | g.32354972C= | CA2082809024 | BRCA2 | c.7119C= (p.Ser2373=) c.6750C= (p.Ser2250=) n.7119C= c.7023C= (p.Ser2341=) | |
| 13 | g.32354972C>G | CA10579724 | BRCA2 | c.7119C>G (p.Ser2373Arg) c.6750C>G (p.Ser2250Arg) n.7119C>G c.7023C>G (p.Ser2341Arg) | ClinVar dbSNP |
| 13 | g.32354972C>T | CA024888 | BRCA2 | c.7119C>T (p.Ser2373=) c.6750C>T (p.Ser2250=) n.7119C>T c.7023C>T (p.Ser2341=) | ClinVar dbSNP |
| 13 | g.32354972dup | CA247468354 | BRCA2 | c.7119dup (p.Asn2374GlnfsTer18) c.6750dup (p.Asn2251GlnfsTer18) n.7119dup c.7023dup (p.Asn2342GlnfsTer18) | dbSNP |
| 13 | g.32354973A= | CA2082809035 | BRCA2 | c.7120A= (p.Asn2374=) c.6751A= (p.Asn2251=) n.7120A= c.7024A= (p.Asn2342=) | |
| 13 | g.32354973A>C | CA387738728 | BRCA2 | c.7120A>C (p.Asn2374His) c.6751A>C (p.Asn2251His) n.7120A>C c.7024A>C (p.Asn2342His) | |
| 13 | g.32354973A>G | CA387738730 | BRCA2 | c.7120A>G (p.Asn2374Asp) c.6751A>G (p.Asn2251Asp) n.7120A>G c.7024A>G (p.Asn2342Asp) | dbSNP |
| 13 | g.32354973A>T | CA387738725 | BRCA2 | c.7120A>T (p.Asn2374Tyr) c.6751A>T (p.Asn2251Tyr) n.7120A>T c.7024A>T (p.Asn2342Tyr) | dbSNP |
| 13 | g.32354974A= | CA2082809052 | BRCA2 | c.7121A= (p.Asn2374=) c.6752A= (p.Asn2251=) n.7121A= c.7025A= (p.Asn2342=) | |
| 13 | g.32354974A>C | CA387738733 | BRCA2 | c.7121A>C (p.Asn2374Thr) c.6752A>C (p.Asn2251Thr) n.7121A>C c.7025A>C (p.Asn2342Thr) | |
| 13 | g.32354974A>G | CA387738734 | BRCA2 | c.7121A>G (p.Asn2374Ser) c.6752A>G (p.Asn2251Ser) n.7121A>G c.7025A>G (p.Asn2342Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32354974A>T | CA387738735 | BRCA2 | c.7121A>T (p.Asn2374Ile) c.6752A>T (p.Asn2251Ile) n.7121A>T c.7025A>T (p.Asn2342Ile) | |
| 13 | g.32354975T>A | CA387738736 | BRCA2 | c.7122T>A (p.Asn2374Lys) c.6753T>A (p.Asn2251Lys) n.7122T>A c.7026T>A (p.Asn2342Lys) | dbSNP |
| 13 | g.32354975T>C | CA483439428 | BRCA2 | c.7122T>C (p.Asn2374=) c.6753T>C (p.Asn2251=) n.7122T>C c.7026T>C (p.Asn2342=) | ClinVar dbSNP |
| 13 | g.32354975T>G | CA387738737 | BRCA2 | c.7122T>G (p.Asn2374Lys) c.6753T>G (p.Asn2251Lys) n.7122T>G c.7026T>G (p.Asn2342Lys) | dbSNP |
| 13 | g.32354976T>A | CA387738740 | BRCA2 | c.7123T>A (p.Leu2375Ile) c.6754T>A (p.Leu2252Ile) n.7123T>A c.7027T>A (p.Leu2343Ile) | dbSNP |
| 13 | g.32354976T>C | CA483439429 | BRCA2 | c.7123T>C (p.Leu2375=) c.6754T>C (p.Leu2252=) n.7123T>C c.7027T>C (p.Leu2343=) | |
| 13 | g.32354976T>G | CA387738742 | BRCA2 | c.7123T>G (p.Leu2375Val) c.6754T>G (p.Leu2252Val) n.7123T>G c.7027T>G (p.Leu2343Val) | |
| 13 | g.32354977T>A | CA387738755 | BRCA2 | c.7124T>A (p.Leu2375Ter) c.6755T>A (p.Leu2252Ter) n.7124T>A c.7028T>A (p.Leu2343Ter) | dbSNP COSMIC COSMIC |
| 13 | g.32354977T>C | CA387738760 | BRCA2 | c.7124T>C (p.Leu2375Ser) c.6755T>C (p.Leu2252Ser) n.7124T>C c.7028T>C (p.Leu2343Ser) | dbSNP |
| 13 | g.32354977T>G | CA10589413 | BRCA2 | c.7124T>G (p.Leu2375Ter) c.6755T>G (p.Leu2252Ter) n.7124T>G c.7028T>G (p.Leu2343Ter) | ClinVar dbSNP |
| 13 | g.32354977T= | CA2082809071 | BRCA2 | c.7124T= (p.Leu2375=) c.6755T= (p.Leu2252=) n.7124T= c.7028T= (p.Leu2343=) | |
| 13 | g.32354978A= | CA2082809084 | BRCA2 | c.7125A= (p.Leu2375=) c.6756A= (p.Leu2252=) n.7125A= c.7029A= (p.Leu2343=) | |
| 13 | g.32354978A>C | CA387738768 | BRCA2 | c.7125A>C (p.Leu2375Phe) c.6756A>C (p.Leu2252Phe) n.7125A>C c.7029A>C (p.Leu2343Phe) | |
| 13 | g.32354978A>G | CA483439431 | BRCA2 | c.7125A>G (p.Leu2375=) c.6756A>G (p.Leu2252=) n.7125A>G c.7029A>G (p.Leu2343=) | ClinVar dbSNP |
| 13 | g.32354978A>T | CA387738769 | BRCA2 | c.7125A>T (p.Leu2375Phe) c.6756A>T (p.Leu2252Phe) n.7125A>T c.7029A>T (p.Leu2343Phe) | ClinVar dbSNP |
| 13 | g.32354979G>A | CA6941061 | BRCA2 | c.7126G>A (p.Ala2376Thr) c.6757G>A (p.Ala2253Thr) n.7126G>A c.7030G>A (p.Ala2344Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32354979G>C | CA024890 | BRCA2 | c.7126G>C (p.Ala2376Pro) c.6757G>C (p.Ala2253Pro) n.7126G>C c.7030G>C (p.Ala2344Pro) | ClinVar dbSNP |
| 13 | g.32354979G= | CA2082809102 | BRCA2 | c.7126G= (p.Ala2376=) c.6757G= (p.Ala2253=) n.7126G= c.7030G= (p.Ala2344=) | |
| 13 | g.32354979G>T | CA387738774 | BRCA2 | c.7126G>T (p.Ala2376Ser) c.6757G>T (p.Ala2253Ser) n.7126G>T c.7030G>T (p.Ala2344Ser) | dbSNP |
| 13 | g.32354979_32354980del | CA2499222272 | BRCA2 | c.7126_7127del (p.Ala2376SerfsTer15) c.6757_6758del (p.Ala2253SerfsTer15) n.7126_7127del c.7030_7031del (p.Ala2344SerfsTer15) | ClinVar dbSNP |
| 13 | g.32354980C>A | CA387738816 | BRCA2 | c.7127C>A (p.Ala2376Glu) c.6758C>A (p.Ala2253Glu) n.7127C>A c.7031C>A (p.Ala2344Glu) | dbSNP |
| 13 | g.32354980C= | CA2082809111 | BRCA2 | c.7127C= (p.Ala2376=) c.6758C= (p.Ala2253=) n.7127C= c.7031C= (p.Ala2344=) | |
| 13 | g.32354980C>G | CA387738821 | BRCA2 | c.7127C>G (p.Ala2376Gly) c.6758C>G (p.Ala2253Gly) n.7127C>G c.7031C>G (p.Ala2344Gly) | dbSNP |
| 13 | g.32354980C>T | CA387738828 | BRCA2 | c.7127C>T (p.Ala2376Val) c.6758C>T (p.Ala2253Val) n.7127C>T c.7031C>T (p.Ala2344Val) | ClinVar dbSNP |
| 13 | g.32354981del | CA2739277507 | BRCA2 | c.7128del (p.Val2377PhefsTer17) c.6759del (p.Val2254PhefsTer17) n.7128del c.7032del (p.Val2345PhefsTer17) | ClinVar |
| 13 | g.32354981A>C | CA483439436 | BRCA2 | c.7128A>C (p.Ala2376=) c.6759A>C (p.Ala2253=) n.7128A>C c.7032A>C (p.Ala2344=) | |
| 13 | g.32354981A>G | CA483439435 | BRCA2 | c.7128A>G (p.Ala2376=) c.6759A>G (p.Ala2253=) n.7128A>G c.7032A>G (p.Ala2344=) | dbSNP gnomAD v4 |
| 13 | g.32354981A>T | CA483439434 | BRCA2 | c.7128A>T (p.Ala2376=) c.6759A>T (p.Ala2253=) n.7128A>T c.7032A>T (p.Ala2344=) | dbSNP |
| 13 | g.32354982G>A | CA387738831 | BRCA2 | c.7129G>A (p.Val2377Ile) c.6760G>A (p.Val2254Ile) n.7129G>A c.7033G>A (p.Val2345Ile) | ClinVar dbSNP |
| 13 | g.32354982G>C | CA387738834 | BRCA2 | c.7129G>C (p.Val2377Leu) c.6760G>C (p.Val2254Leu) n.7129G>C c.7033G>C (p.Val2345Leu) | dbSNP |
| 13 | g.32354982G>T | CA387738836 | BRCA2 | c.7129G>T (p.Val2377Phe) c.6760G>T (p.Val2254Phe) n.7129G>T c.7033G>T (p.Val2345Phe) | |
| 13 | g.32354983T>A | CA387738847 | BRCA2 | c.7130T>A (p.Val2377Asp) c.6761T>A (p.Val2254Asp) n.7130T>A c.7034T>A (p.Val2345Asp) | dbSNP |
| 13 | g.32354983T>C | CA387738845 | BRCA2 | c.7130T>C (p.Val2377Ala) c.6761T>C (p.Val2254Ala) n.7130T>C c.7034T>C (p.Val2345Ala) | ClinVar |
| 13 | g.32354983T>G | CA387738846 | BRCA2 | c.7130T>G (p.Val2377Gly) c.6761T>G (p.Val2254Gly) n.7130T>G c.7034T>G (p.Val2345Gly) | |
| 13 | g.32354985del | CA2580087397 | BRCA2 | c.7132del (p.Ser2378GlnfsTer16) c.6763del (p.Ser2255GlnfsTer16) n.7132del c.7036del (p.Ser2346GlnfsTer16) | ClinVar |
| 13 | g.32354984T>A | CA483439440 | BRCA2 | c.7131T>A (p.Val2377=) c.6762T>A (p.Val2254=) n.7131T>A c.7035T>A (p.Val2345=) | dbSNP |
| 13 | g.32354984T>C | CA483439443 | BRCA2 | c.7131T>C (p.Val2377=) c.6762T>C (p.Val2254=) n.7131T>C c.7035T>C (p.Val2345=) | ClinVar dbSNP |
| 13 | g.32354984T>G | CA483439442 | BRCA2 | c.7131T>G (p.Val2377=) c.6762T>G (p.Val2254=) n.7131T>G c.7035T>G (p.Val2345=) | |
| 13 | g.32354984T= | CA2082809120 | BRCA2 | c.7131T= (p.Val2377=) c.6762T= (p.Val2254=) n.7131T= c.7035T= (p.Val2345=) | |
| 13 | g.32354985T>A | CA387738849 | BRCA2 | c.7132T>A (p.Ser2378Thr) c.6763T>A (p.Ser2255Thr) n.7132T>A c.7036T>A (p.Ser2346Thr) | |
| 13 | g.32354985T>C | CA387738852 | BRCA2 | c.7132T>C (p.Ser2378Pro) c.6763T>C (p.Ser2255Pro) n.7132T>C c.7036T>C (p.Ser2346Pro) | dbSNP |
| 13 | g.32354985T>G | CA387738862 | BRCA2 | c.7132T>G (p.Ser2378Ala) c.6763T>G (p.Ser2255Ala) n.7132T>G c.7036T>G (p.Ser2346Ala) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32354985T= | CA2082809143 | BRCA2 | c.7132T= (p.Ser2378=) c.6763T= (p.Ser2255=) n.7132T= c.7036T= (p.Ser2346=) | |
| 13 | g.32354986C>A | CA387738866 | BRCA2 | c.7133C>A (p.Ser2378Ter) c.6764C>A (p.Ser2255Ter) n.7133C>A c.7037C>A (p.Ser2346Ter) | ClinVar |
| 13 | g.32354986C= | CA2082809151 | BRCA2 | c.7133C= (p.Ser2378=) c.6764C= (p.Ser2255=) n.7133C= c.7037C= (p.Ser2346=) | |
| 13 | g.32354986C>G | CA024895 | BRCA2 | c.7133C>G (p.Ser2378Ter) c.6764C>G (p.Ser2255Ter) n.7133C>G c.7037C>G (p.Ser2346Ter) | ClinVar dbSNP |
| 13 | g.32354986C>T | CA387738874 | BRCA2 | c.7133C>T (p.Ser2378Leu) c.6764C>T (p.Ser2255Leu) n.7133C>T c.7037C>T (p.Ser2346Leu) | dbSNP |
| 13 | g.32354987A= | CA2082809169 | BRCA2 | c.7134A= (p.Ser2378=) c.6765A= (p.Ser2255=) n.7134A= c.7038A= (p.Ser2346=) | |
| 13 | g.32354987A>C | CA483439446 | BRCA2 | c.7134A>C (p.Ser2378=) c.6765A>C (p.Ser2255=) n.7134A>C c.7038A>C (p.Ser2346=) | dbSNP |
| 13 | g.32354987A>G | CA483439448 | BRCA2 | c.7134A>G (p.Ser2378=) c.6765A>G (p.Ser2255=) n.7134A>G c.7038A>G (p.Ser2346=) | ClinVar dbSNP |
| 13 | g.32354987A>T | CA483439449 | BRCA2 | c.7134A>T (p.Ser2378=) c.6765A>T (p.Ser2255=) n.7134A>T c.7038A>T (p.Ser2346=) | dbSNP |
| 13 | g.32354988G>A | CA387738886 | BRCA2 | c.7135G>A (p.Gly2379Arg) c.6766G>A (p.Gly2256Arg) n.7135G>A c.7039G>A (p.Gly2347Arg) | ClinVar dbSNP |
| 13 | g.32354988G>C | CA387738893 | BRCA2 | c.7135G>C (p.Gly2379Arg) c.6766G>C (p.Gly2256Arg) n.7135G>C c.7039G>C (p.Gly2347Arg) | dbSNP |
| 13 | g.32354988G>T | CA387738881 | BRCA2 | c.7135G>T (p.Gly2379Ter) c.6766G>T (p.Gly2256Ter) n.7135G>T c.7039G>T (p.Gly2347Ter) | dbSNP |
| 13 | g.32354989G>A | CA387738906 | BRCA2 | c.7136G>A (p.Gly2379Glu) c.6767G>A (p.Gly2256Glu) n.7136G>A c.7040G>A (p.Gly2347Glu) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32354989G>C | CA387738904 | BRCA2 | c.7136G>C (p.Gly2379Ala) c.6767G>C (p.Gly2256Ala) n.7136G>C c.7040G>C (p.Gly2347Ala) | dbSNP |
| 13 | g.32354989G= | CA2082809182 | BRCA2 | c.7136G= (p.Gly2379=) c.6767G= (p.Gly2256=) n.7136G= c.7040G= (p.Gly2347=) | |
| 13 | g.32354989G>T | CA387738908 | BRCA2 | c.7136G>T (p.Gly2379Val) c.6767G>T (p.Gly2256Val) n.7136G>T c.7040G>T (p.Gly2347Val) | ClinVar dbSNP |
| 13 | g.32354990A= | CA2082809190 | BRCA2 | c.7137A= (p.Gly2379=) c.6768A= (p.Gly2256=) n.7137A= c.7041A= (p.Gly2347=) | |
| 13 | g.32354990A>C | CA483439452 | BRCA2 | c.7137A>C (p.Gly2379=) c.6768A>C (p.Gly2256=) n.7137A>C c.7041A>C (p.Gly2347=) | dbSNP |
| 13 | g.32354990A>G | CA024900 | BRCA2 | c.7137A>G (p.Gly2379=) c.6768A>G (p.Gly2256=) n.7137A>G c.7041A>G (p.Gly2347=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32354990A>T | CA483439453 | BRCA2 | c.7137A>T (p.Gly2379=) c.6768A>T (p.Gly2256=) n.7137A>T c.7041A>T (p.Gly2347=) | ClinVar dbSNP |
| 13 | g.32354991C>A | CA387738912 | BRCA2 | c.7138C>A (p.His2380Asn) c.6769C>A (p.His2257Asn) n.7138C>A c.7042C>A (p.His2348Asn) | |
| 13 | g.32354991C= | CA2082809198 | BRCA2 | c.7138C= (p.His2380=) c.6769C= (p.His2257=) n.7138C= c.7042C= (p.His2348=) | |
| 13 | g.32354991C>G | CA387738916 | BRCA2 | c.7138C>G (p.His2380Asp) c.6769C>G (p.His2257Asp) n.7138C>G c.7042C>G (p.His2348Asp) | dbSNP |
| 13 | g.32354991C>T | CA387738946 | BRCA2 | c.7138C>T (p.His2380Tyr) c.6769C>T (p.His2257Tyr) n.7138C>T c.7042C>T (p.His2348Tyr) | ClinVar dbSNP |
| 13 | g.32354992A= | CA2082809210 | BRCA2 | c.7139A= (p.His2380=) c.6770A= (p.His2257=) n.7139A= c.7043A= (p.His2348=) | |
| 13 | g.32354992A>C | CA387738951 | BRCA2 | c.7139A>C (p.His2380Pro) c.6770A>C (p.His2257Pro) n.7139A>C c.7043A>C (p.His2348Pro) | ClinVar dbSNP |
| 13 | g.32354992A>G | CA387738952 | BRCA2 | c.7139A>G (p.His2380Arg) c.6770A>G (p.His2257Arg) n.7139A>G c.7043A>G (p.His2348Arg) | ClinVar dbSNP |
| 13 | g.32354992A>T | CA387738953 | BRCA2 | c.7139A>T (p.His2380Leu) c.6770A>T (p.His2257Leu) n.7139A>T c.7043A>T (p.His2348Leu) | dbSNP |
| 13 | g.32354993T>A | CA387738954 | BRCA2 | c.7140T>A (p.His2380Gln) c.6771T>A (p.His2257Gln) n.7140T>A c.7044T>A (p.His2348Gln) | |
| 13 | g.32354993T>C | CA483439459 | BRCA2 | c.7140T>C (p.His2380=) c.6771T>C (p.His2257=) n.7140T>C c.7044T>C (p.His2348=) | ClinVar dbSNP |
| 13 | g.32354993T>G | CA387738955 | BRCA2 | c.7140T>G (p.His2380Gln) c.6771T>G (p.His2257Gln) n.7140T>G c.7044T>G (p.His2348Gln) | |
| 13 | g.32354993T= | CA2082809219 | BRCA2 | c.7140T= (p.His2380=) c.6771T= (p.His2257=) n.7140T= c.7044T= (p.His2348=) | |
| 13 | g.32354993_32354994delinsTC | CA2082809216 | BRCA2 | c.7140_7141delinsTC (p.His2380=) c.6771_6772delinsTC (p.His2257=) n.7140_7141delinsTC c.7044_7045delinsTC (p.His2348=) | |
| 13 | g.32354994C>A | CA387738989 | BRCA2 | c.7141C>A (p.Pro2381Thr) c.6772C>A (p.Pro2258Thr) n.7141C>A c.7045C>A (p.Pro2349Thr) | ClinVar dbSNP |
| 13 | g.32354994C= | CA2082809246 | BRCA2 | c.7141C= (p.Pro2381=) c.6772C= (p.Pro2258=) n.7141C= c.7045C= (p.Pro2349=) | |
| 13 | g.32354994C>G | CA6941062 | BRCA2 | c.7141C>G (p.Pro2381Ala) c.6772C>G (p.Pro2258Ala) n.7141C>G c.7045C>G (p.Pro2349Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32354994C>T | CA387739015 | BRCA2 | c.7141C>T (p.Pro2381Ser) c.6772C>T (p.Pro2258Ser) n.7141C>T c.7045C>T (p.Pro2349Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32354995del | CA024902 | BRCA2 | c.7142del (p.Pro2381HisfsTer13) c.6773del (p.Pro2258HisfsTer13) n.7142del c.7046del (p.Pro2349HisfsTer13) | ClinVar dbSNP |
| 13 | g.32354995C>A | CA6941063 | BRCA2 | c.7142C>A (p.Pro2381Gln) c.6773C>A (p.Pro2258Gln) n.7142C>A c.7046C>A (p.Pro2349Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32354995C= | CA2082809260 | BRCA2 | c.7142C= (p.Pro2381=) c.6773C= (p.Pro2258=) n.7142C= c.7046C= (p.Pro2349=) | |
| 13 | g.32354995C>G | CA387739016 | BRCA2 | c.7142C>G (p.Pro2381Arg) c.6773C>G (p.Pro2258Arg) n.7142C>G c.7046C>G (p.Pro2349Arg) | dbSNP |
| 13 | g.32354995C>T | CA387739017 | BRCA2 | c.7142C>T (p.Pro2381Leu) c.6773C>T (p.Pro2258Leu) n.7142C>T c.7046C>T (p.Pro2349Leu) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32354996A>C | CA483439463 | BRCA2 | c.7143A>C (p.Pro2381=) c.6774A>C (p.Pro2258=) n.7143A>C c.7047A>C (p.Pro2349=) | |
| 13 | g.32354996A>G | CA483439464 | BRCA2 | c.7143A>G (p.Pro2381=) c.6774A>G (p.Pro2258=) n.7143A>G c.7047A>G (p.Pro2349=) | ClinVar |
| 13 | g.32354996A>T | CA483439465 | BRCA2 | c.7143A>T (p.Pro2381=) c.6774A>T (p.Pro2258=) n.7143A>T c.7047A>T (p.Pro2349=) | |
| 13 | g.32354996_32354997delinsAT | CA2082809264 | BRCA2 | c.7143_7144delinsAT (p.Pro2381=) c.6774_6775delinsAT (p.Pro2258=) n.7143_7144delinsAT c.7047_7048delinsAT (p.Pro2349=) | |
| 13 | g.32354997T>A | CA387739041 | BRCA2 | c.7144T>A (p.Phe2382Ile) c.6775T>A (p.Phe2259Ile) n.7144T>A c.7048T>A (p.Phe2350Ile) | dbSNP |
| 13 | g.32354997T>C | CA387739045 | BRCA2 | c.7144T>C (p.Phe2382Leu) c.6775T>C (p.Phe2259Leu) n.7144T>C c.7048T>C (p.Phe2350Leu) | dbSNP |
| 13 | g.32354997T>G | CA387739053 | BRCA2 | c.7144T>G (p.Phe2382Val) c.6775T>G (p.Phe2259Val) n.7144T>G c.7048T>G (p.Phe2350Val) | |
| 13 | g.32355000dup | CA6941064 | BRCA2 | c.7147dup (p.Tyr2383LeufsTer9) c.6778dup (p.Tyr2260LeufsTer9) n.7147dup c.7051dup (p.Tyr2351LeufsTer9) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32355000del | CA2082809267 | BRCA2 | c.7147del (p.Tyr2383IlefsTer11) c.6778del (p.Tyr2260IlefsTer11) n.7147del c.7051del (p.Tyr2351IlefsTer11) | ClinVar dbSNP |
| 13 | g.32354998T>A | CA387739057 | BRCA2 | c.7145T>A (p.Phe2382Tyr) c.6776T>A (p.Phe2259Tyr) n.7145T>A c.7049T>A (p.Phe2350Tyr) | |
| 13 | g.32354998T>C | CA387739058 | BRCA2 | c.7145T>C (p.Phe2382Ser) c.6776T>C (p.Phe2259Ser) n.7145T>C c.7049T>C (p.Phe2350Ser) | |
| 13 | g.32354998T>G | CA387739059 | BRCA2 | c.7145T>G (p.Phe2382Cys) c.6776T>G (p.Phe2259Cys) n.7145T>G c.7049T>G (p.Phe2350Cys) | |
| 13 | g.32354999T>A | CA387739061 | BRCA2 | c.7146T>A (p.Phe2382Leu) c.6777T>A (p.Phe2259Leu) n.7146T>A c.7050T>A (p.Phe2350Leu) | |
| 13 | g.32354999T>C | CA483439470 | BRCA2 | c.7146T>C (p.Phe2382=) c.6777T>C (p.Phe2259=) n.7146T>C c.7050T>C (p.Phe2350=) | |
| 13 | g.32354999T>G | CA387739068 | BRCA2 | c.7146T>G (p.Phe2382Leu) c.6777T>G (p.Phe2259Leu) n.7146T>G c.7050T>G (p.Phe2350Leu) | ClinVar |
| 13 | g.32355000T>A | CA387739075 | BRCA2 | c.7147T>A (p.Tyr2383Asn) c.6778T>A (p.Tyr2260Asn) n.7147T>A c.7051T>A (p.Tyr2351Asn) | dbSNP |
| 13 | g.32355000T>C | CA387739083 | BRCA2 | c.7147T>C (p.Tyr2383His) c.6778T>C (p.Tyr2260His) n.7147T>C c.7051T>C (p.Tyr2351His) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32355000T>G | CA387739097 | BRCA2 | c.7147T>G (p.Tyr2383Asp) c.6778T>G (p.Tyr2260Asp) n.7147T>G c.7051T>G (p.Tyr2351Asp) | |
| 13 | g.32355000T= | CA2082809274 | BRCA2 | c.7147T= (p.Tyr2383=) c.6778T= (p.Tyr2260=) n.7147T= c.7051T= (p.Tyr2351=) | |
| 13 | g.32355001A>C | CA387739128 | BRCA2 | c.7148A>C (p.Tyr2383Ser) c.6779A>C (p.Tyr2260Ser) n.7148A>C c.7052A>C (p.Tyr2351Ser) | dbSNP |
| 13 | g.32355001A>G | CA387739148 | BRCA2 | c.7148A>G (p.Tyr2383Cys) c.6779A>G (p.Tyr2260Cys) n.7148A>G c.7052A>G (p.Tyr2351Cys) | |
| 13 | g.32355001A>T | CA387739109 | BRCA2 | c.7148A>T (p.Tyr2383Phe) c.6779A>T (p.Tyr2260Phe) n.7148A>T c.7052A>T (p.Tyr2351Phe) | dbSNP |
| 13 | g.32355002T>A | CA387739154 | BRCA2 | c.7149T>A (p.Tyr2383Ter) c.6780T>A (p.Tyr2260Ter) n.7149T>A c.7053T>A (p.Tyr2351Ter) | dbSNP |
| 13 | g.32355002T>C | CA483439474 | BRCA2 | c.7149T>C (p.Tyr2383=) c.6780T>C (p.Tyr2260=) n.7149T>C c.7053T>C (p.Tyr2351=) | dbSNP |
| 13 | g.32355002T>G | CA387739159 | BRCA2 | c.7149T>G (p.Tyr2383Ter) c.6780T>G (p.Tyr2260Ter) n.7149T>G c.7053T>G (p.Tyr2351Ter) | |
| 13 | g.32355003C>A | CA024904 | BRCA2 | c.7150C>A (p.Gln2384Lys) c.6781C>A (p.Gln2261Lys) n.7150C>A c.7054C>A (p.Gln2352Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32355003C= | CA2082809278 | BRCA2 | c.7150C= (p.Gln2384=) c.6781C= (p.Gln2261=) n.7150C= c.7054C= (p.Gln2352=) | |
| 13 | g.32355003C>G | CA387739165 | BRCA2 | c.7150C>G (p.Gln2384Glu) c.6781C>G (p.Gln2261Glu) n.7150C>G c.7054C>G (p.Gln2352Glu) | ClinVar dbSNP gnomAD v2 |
| 13 | g.32355003C>T | CA387739168 | BRCA2 | c.7150C>T (p.Gln2384Ter) c.6781C>T (p.Gln2261Ter) n.7150C>T c.7054C>T (p.Gln2352Ter) | ClinVar dbSNP |
| 13 | g.32355003_32355004delinsCA | CA2082809283 | BRCA2 | c.7150_7151delinsCA (p.Gln2384=) c.6781_6782delinsCA (p.Gln2261=) n.7150_7151delinsCA c.7054_7055delinsCA (p.Gln2352=) | |
| 13 | g.32355003_32355005delinsCAA | CA2082809282 | BRCA2 | c.7150_7152delinsCAA (p.Gln2384=) c.6781_6783delinsCAA (p.Gln2261=) n.7150_7152delinsCAA c.7054_7056delinsCAA (p.Gln2352=) | |
| 13 | g.32355004A>C | CA387739188 | BRCA2 | c.7151A>C (p.Gln2384Pro) c.6782A>C (p.Gln2261Pro) n.7151A>C c.7055A>C (p.Gln2352Pro) | |
| 13 | g.32355004A>G | CA387739186 | BRCA2 | c.7151A>G (p.Gln2384Arg) c.6782A>G (p.Gln2261Arg) n.7151A>G c.7055A>G (p.Gln2352Arg) | dbSNP |
| 13 | g.32355004A>T | CA387739182 | BRCA2 | c.7151A>T (p.Gln2384Leu) c.6782A>T (p.Gln2261Leu) n.7151A>T c.7055A>T (p.Gln2352Leu) | |
| 13 | g.32355004_32355005del | CA024907 | BRCA2 | c.7151_7152del (p.Gln2384ArgfsTer7) c.6782_6783del (p.Gln2261ArgfsTer7) n.7151_7152del c.7055_7056del (p.Gln2352ArgfsTer7) | ClinVar dbSNP |
| 13 | g.32355005del | CA10589414 | BRCA2 | c.7152del (p.Val2385PhefsTer9) c.6783del (p.Val2262PhefsTer9) n.7152del c.7056del (p.Val2353PhefsTer9) | ClinVar dbSNP |
| 13 | g.32355005A= | CA2082809299 | BRCA2 | c.7152A= (p.Gln2384=) c.6783A= (p.Gln2261=) n.7152A= c.7056A= (p.Gln2352=) | |
| 13 | g.32355005A>C | CA387739199 | BRCA2 | c.7152A>C (p.Gln2384His) c.6783A>C (p.Gln2261His) n.7152A>C c.7056A>C (p.Gln2352His) | |
| 13 | g.32355005A>G | CA024909 | BRCA2 | c.7152A>G (p.Gln2384=) c.6783A>G (p.Gln2261=) n.7152A>G c.7056A>G (p.Gln2352=) | ClinVar dbSNP |
| 13 | g.32355005A>T | CA387739221 | BRCA2 | c.7152A>T (p.Gln2384His) c.6783A>T (p.Gln2261His) n.7152A>T c.7056A>T (p.Gln2352His) | dbSNP |
| 13 | g.32355006G>A | CA387739249 | BRCA2 | c.7153G>A (p.Val2385Ile) c.6784G>A (p.Val2262Ile) n.7153G>A c.7057G>A (p.Val2353Ile) | ClinVar dbSNP |
| 13 | g.32355006G>C | CA387739255 | BRCA2 | c.7153G>C (p.Val2385Leu) c.6784G>C (p.Val2262Leu) n.7153G>C c.7057G>C (p.Val2353Leu) | dbSNP |
| 13 | g.32355006G= | CA2082809304 | BRCA2 | c.7153G= (p.Val2385=) c.6784G= (p.Val2262=) n.7153G= c.7057G= (p.Val2353=) | |
| 13 | g.32355006G>T | CA387739258 | BRCA2 | c.7153G>T (p.Val2385Phe) c.6784G>T (p.Val2262Phe) n.7153G>T c.7057G>T (p.Val2353Phe) | |
| 13 | g.32355007T>A | CA387739263 | BRCA2 | c.7154T>A (p.Val2385Asp) c.6785T>A (p.Val2262Asp) n.7154T>A c.7058T>A (p.Val2353Asp) | dbSNP |
| 13 | g.32355007T>C | CA387739276 | BRCA2 | c.7154T>C (p.Val2385Ala) c.6785T>C (p.Val2262Ala) n.7154T>C c.7058T>C (p.Val2353Ala) | ClinVar dbSNP |
| 13 | g.32355007T>G | CA387739266 | BRCA2 | c.7154T>G (p.Val2385Gly) c.6785T>G (p.Val2262Gly) n.7154T>G c.7058T>G (p.Val2353Gly) | ClinVar dbSNP |
| 13 | g.32355007T= | CA2082809311 | BRCA2 | c.7154T= (p.Val2385=) c.6785T= (p.Val2262=) n.7154T= c.7058T= (p.Val2353=) | |
| 13 | g.32355009dup | CA024911 | BRCA2 | c.7156dup (p.Ser2386PhefsTer6) c.6787dup (p.Ser2263PhefsTer6) n.7156dup c.7060dup (p.Ser2354PhefsTer6) | ClinVar dbSNP |
| 13 | g.32355008T>A | CA483439480 | BRCA2 | c.7155T>A (p.Val2385=) c.6786T>A (p.Val2262=) n.7155T>A c.7059T>A (p.Val2353=) | dbSNP |
| 13 | g.32355008T>C | CA483439481 | BRCA2 | c.7155T>C (p.Val2385=) c.6786T>C (p.Val2262=) n.7155T>C c.7059T>C (p.Val2353=) | dbSNP |
| 13 | g.32355008T>G | CA483439483 | BRCA2 | c.7155T>G (p.Val2385=) c.6786T>G (p.Val2262=) n.7155T>G c.7059T>G (p.Val2353=) | |
| 13 | g.32355008_32355015dup | CA2499222273 | BRCA2 | c.7155_7162dup (p.Thr2388IlefsTer9) c.6786_6793dup (p.Thr2265IlefsTer9) n.7155_7162dup c.7059_7066dup (p.Thr2356IlefsTer9) | ClinVar dbSNP |
| 13 | g.32355009T>A | CA387739283 | BRCA2 | c.7156T>A (p.Ser2386Thr) c.6787T>A (p.Ser2263Thr) n.7156T>A c.7060T>A (p.Ser2354Thr) | dbSNP |
| 13 | g.32355009T>C | CA6941065 | BRCA2 | c.7156T>C (p.Ser2386Pro) c.6787T>C (p.Ser2263Pro) n.7156T>C c.7060T>C (p.Ser2354Pro) | dbSNP ExAC gnomAD v2 |
| 13 | g.32355009T>G | CA387739290 | BRCA2 | c.7156T>G (p.Ser2386Ala) c.6787T>G (p.Ser2263Ala) n.7156T>G c.7060T>G (p.Ser2354Ala) | dbSNP |
| 13 | g.32355009T= | CA2082809321 | BRCA2 | c.7156T= (p.Ser2386=) c.6787T= (p.Ser2263=) n.7156T= c.7060T= (p.Ser2354=) | |
| 13 | g.32355010C>A | CA387739291 | BRCA2 | c.7157C>A (p.Ser2386Tyr) c.6788C>A (p.Ser2263Tyr) n.7157C>A c.7061C>A (p.Ser2354Tyr) | dbSNP gnomAD v4 |
| 13 | g.32355010C= | CA2082809326 | BRCA2 | c.7157C= (p.Ser2386=) c.6788C= (p.Ser2263=) n.7157C= c.7061C= (p.Ser2354=) | |
| 13 | g.32355010C>G | CA387739292 | BRCA2 | c.7157C>G (p.Ser2386Cys) c.6788C>G (p.Ser2263Cys) n.7157C>G c.7061C>G (p.Ser2354Cys) | dbSNP |
| 13 | g.32355010C>T | CA387739293 | BRCA2 | c.7157C>T (p.Ser2386Phe) c.6788C>T (p.Ser2263Phe) n.7157C>T c.7061C>T (p.Ser2354Phe) | dbSNP |
| 13 | g.32355011T>A | CA483439613 | BRCA2 | c.7158T>A (p.Ser2386=) c.6789T>A (p.Ser2263=) n.7158T>A c.7062T>A (p.Ser2354=) | dbSNP |
| 13 | g.32355011T>C | CA247468407 | BRCA2 | c.7158T>C (p.Ser2386=) c.6789T>C (p.Ser2263=) n.7158T>C c.7062T>C (p.Ser2354=) | dbSNP |
| 13 | g.32355011T>G | CA483439618 | BRCA2 | c.7158T>G (p.Ser2386=) c.6789T>G (p.Ser2263=) n.7158T>G c.7062T>G (p.Ser2354=) | |
| 13 | g.32355011T= | CA2082809330 | BRCA2 | c.7158T= (p.Ser2386=) c.6789T= (p.Ser2263=) n.7158T= c.7062T= (p.Ser2354=) | |
| 13 | g.32355012G>A | CA387739300 | BRCA2 | c.7159G>A (p.Ala2387Thr) c.6790G>A (p.Ala2264Thr) n.7159G>A c.7063G>A (p.Ala2355Thr) | ClinVar dbSNP |
| 13 | g.32355012G>C | CA387739295 | BRCA2 | c.7159G>C (p.Ala2387Pro) c.6790G>C (p.Ala2264Pro) n.7159G>C c.7063G>C (p.Ala2355Pro) | dbSNP |
| 13 | g.32355012G= | CA2082809336 | BRCA2 | c.7159G= (p.Ala2387=) c.6790G= (p.Ala2264=) n.7159G= c.7063G= (p.Ala2355=) | |
| 13 | g.32355012G>T | CA387739296 | BRCA2 | c.7159G>T (p.Ala2387Ser) c.6790G>T (p.Ala2264Ser) n.7159G>T c.7063G>T (p.Ala2355Ser) | dbSNP |
| 13 | g.32355013C>A | CA387739307 | BRCA2 | c.7160C>A (p.Ala2387Asp) c.6791C>A (p.Ala2264Asp) n.7160C>A c.7064C>A (p.Ala2355Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32355013C= | CA2082809344 | BRCA2 | c.7160C= (p.Ala2387=) c.6791C= (p.Ala2264=) n.7160C= c.7064C= (p.Ala2355=) | |
| 13 | g.32355013C>G | CA387739314 | BRCA2 | c.7160C>G (p.Ala2387Gly) c.6791C>G (p.Ala2264Gly) n.7160C>G c.7064C>G (p.Ala2355Gly) | dbSNP |
| 13 | g.32355013C>T | CA024915 | BRCA2 | c.7160C>T (p.Ala2387Val) c.6791C>T (p.Ala2264Val) n.7160C>T c.7064C>T (p.Ala2355Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |