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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32328077_32337667del | CA2580087045 | BRCA2 | c.632-1366_3312del c.263-1366_2943del n.632-1366_3312del | ClinVar |
| 13 | g.32336269_32337451del | CA2581463478 | BRCA2 | c.1914_3096del (p.Leu639IlefsTer10) c.1545_2727del (p.Leu516IlefsTer10) n.1914_3096del | |
| 13 | g.32336580_32336607dup | CA2580087250 | BRCA2 | c.2225_2252dup (p.Asp752ThrfsTer8) c.1856_1883dup (p.Asp629ThrfsTer8) n.2225_2252dup | ClinVar |
| 13 | g.32336597_32336599delinsTAC | CA2082750514 | BRCA2 | c.2242_2244delinsTAC (p.Tyr748=) c.1873_1875delinsTAC (p.Tyr625=) n.2242_2244delinsTAC | |
| 13 | g.32336599_32336600del | CA10586056 | BRCA2 | c.2244_2245del (p.Tyr748Ter) c.1875_1876del (p.Tyr625Ter) n.2244_2245del | ClinVar dbSNP |
| 13 | g.32336599C>A | CA387770850 | BRCA2 | c.2244C>A (p.Tyr748Ter) c.1875C>A (p.Tyr625Ter) n.2244C>A | dbSNP |
| 13 | g.32336599C= | CA2082750539 | BRCA2 | c.2244C= (p.Tyr748=) c.1875C= (p.Tyr625=) n.2244C= | |
| 13 | g.32336599C>G | CA387770853 | BRCA2 | c.2244C>G (p.Tyr748Ter) c.1875C>G (p.Tyr625Ter) n.2244C>G | ClinVar dbSNP |
| 13 | g.32336599C>T | CA483436967 | BRCA2 | c.2244C>T (p.Tyr748=) c.1875C>T (p.Tyr625=) n.2244C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336599_32336600insTTCAAAAGTGGAATTCAAAA | CA658823616 | BRCA2 | c.2244_2245insTTCAAAAGTGGAATTCAAAA (p.Ser749PhefsTer30) c.1875_1876insTTCAAAAGTGGAATTCAAAA (p.Ser626PhefsTer30) n.2244_2245insTTCAAAAGTGGAATTCAAAA | ClinVar dbSNP |
| 13 | g.32336600A= | CA2082750575 | BRCA2 | c.2245A= (p.Ser749=) c.1876A= (p.Ser626=) n.2245A= | |
| 13 | g.32336600A>C | CA387770862 | BRCA2 | c.2245A>C (p.Ser749Arg) c.1876A>C (p.Ser626Arg) n.2245A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32336600A>G | CA014730 | BRCA2 | c.2245A>G (p.Ser749Gly) c.1876A>G (p.Ser626Gly) n.2245A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32336600A>T | CA387770858 | BRCA2 | c.2245A>T (p.Ser749Cys) c.1876A>T (p.Ser626Cys) n.2245A>T | dbSNP |
| 13 | g.32336600_32336601insTTCAAAAGTGGAATTCAAAA | CA10589144 | BRCA2 | c.2245_2246insTTCAAAAGTGGAATTCAAAA (p.Ser749IlefsTer30) c.1876_1877insTTCAAAAGTGGAATTCAAAA (p.Ser626IlefsTer30) n.2245_2246insTTCAAAAGTGGAATTCAAAA | ClinVar dbSNP |
| 13 | g.32336600_32336602dup | CA2739277500 | BRCA2 | c.2245_2247dup (p.Ser749_Asp750insSer) c.1876_1878dup (p.Ser626_Asp627insSer) n.2245_2247dup | ClinVar |
| 13 | g.32336601G>A | CA387770866 | BRCA2 | c.2246G>A (p.Ser749Asn) c.1877G>A (p.Ser626Asn) n.2246G>A | dbSNP |
| 13 | g.32336601G>C | CA387770870 | BRCA2 | c.2246G>C (p.Ser749Thr) c.1877G>C (p.Ser626Thr) n.2246G>C | ClinVar |
| 13 | g.32336601G>T | CA387770873 | BRCA2 | c.2246G>T (p.Ser749Ile) c.1877G>T (p.Ser626Ile) n.2246G>T | |
| 13 | g.32336602T>A | CA387770878 | BRCA2 | c.2247T>A (p.Ser749Arg) c.1878T>A (p.Ser626Arg) n.2247T>A | dbSNP |
| 13 | g.32336602T>C | CA483436972 | BRCA2 | c.2247T>C (p.Ser749=) c.1878T>C (p.Ser626=) n.2247T>C | |
| 13 | g.32336602T>G | CA387770883 | BRCA2 | c.2247T>G (p.Ser749Arg) c.1878T>G (p.Ser626Arg) n.2247T>G | dbSNP |
| 13 | g.32336602dup | CA2580087255 | BRCA2 | c.2247dup (p.Asp750Ter) c.1878dup (p.Asp627Ter) n.2247dup | ClinVar |
| 13 | g.32336603G>A | CA387770887 | BRCA2 | c.2248G>A (p.Asp750Asn) c.1879G>A (p.Asp627Asn) n.2248G>A | dbSNP |
| 13 | g.32336603G>C | CA014741 | BRCA2 | c.2248G>C (p.Asp750His) c.1879G>C (p.Asp627His) n.2248G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32336603G= | CA2082750583 | BRCA2 | c.2248G= (p.Asp750=) c.1879G= (p.Asp627=) n.2248G= | |
| 13 | g.32336603G>T | CA387770886 | BRCA2 | c.2248G>T (p.Asp750Tyr) c.1879G>T (p.Asp627Tyr) n.2248G>T | |
| 13 | g.32336604A= | CA2082750598 | BRCA2 | c.2249A= (p.Asp750=) c.1880A= (p.Asp627=) n.2249A= | |
| 13 | g.32336604A>C | CA387770888 | BRCA2 | c.2249A>C (p.Asp750Ala) c.1880A>C (p.Asp627Ala) n.2249A>C | ClinVar dbSNP |
| 13 | g.32336604A>G | CA387770889 | BRCA2 | c.2249A>G (p.Asp750Gly) c.1880A>G (p.Asp627Gly) n.2249A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336604A>T | CA387770890 | BRCA2 | c.2249A>T (p.Asp750Val) c.1880A>T (p.Asp627Val) n.2249A>T | ClinVar dbSNP |
| 13 | g.32336605T>A | CA387770892 | BRCA2 | c.2250T>A (p.Asp750Glu) c.1881T>A (p.Asp627Glu) n.2250T>A | dbSNP |
| 13 | g.32336605T>C | CA483436981 | BRCA2 | c.2250T>C (p.Asp750=) c.1881T>C (p.Asp627=) n.2250T>C | dbSNP |
| 13 | g.32336605T>G | CA387770894 | BRCA2 | c.2250T>G (p.Asp750Glu) c.1881T>G (p.Asp627Glu) n.2250T>G | dbSNP |
| 13 | g.32336605T= | CA2082750603 | BRCA2 | c.2250T= (p.Asp750=) c.1881T= (p.Asp627=) n.2250T= | |
| 13 | g.32336605_32336609delinsTACTG | CA2082750605 | BRCA2 | c.2250_2254delinsTACTG (p.Asp750=) c.1881_1885delinsTACTG (p.Asp627=) n.2250_2254delinsTACTG | |
| 13 | g.32336606A>C | CA387770903 | BRCA2 | c.2251A>C (p.Thr751Pro) c.1882A>C (p.Thr628Pro) n.2251A>C | dbSNP |
| 13 | g.32336606A>G | CA387770897 | BRCA2 | c.2251A>G (p.Thr751Ala) c.1882A>G (p.Thr628Ala) n.2251A>G | dbSNP |
| 13 | g.32336606A>T | CA387770899 | BRCA2 | c.2251A>T (p.Thr751Ser) c.1882A>T (p.Thr628Ser) n.2251A>T | dbSNP |
| 13 | g.32336606dup | CA10589145 | BRCA2 | c.2251dup (p.Thr751AsnfsTer2) c.1882dup (p.Thr628AsnfsTer2) n.2251dup | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336609_32336612del | CA014764 | BRCA2 | c.2254_2257del (p.Asp752PhefsTer19) c.1885_1888del (p.Asp629PhefsTer19) n.2254_2257del | ClinVar dbSNP |
| 13 | g.32336607C>A | CA387770906 | BRCA2 | c.2252C>A (p.Thr751Asn) c.1883C>A (p.Thr628Asn) n.2252C>A | |
| 13 | g.32336607C= | CA2082750627 | BRCA2 | c.2252C= (p.Thr751=) c.1883C= (p.Thr628=) n.2252C= | |
| 13 | g.32336607C>G | CA387770909 | BRCA2 | c.2252C>G (p.Thr751Ser) c.1883C>G (p.Thr628Ser) n.2252C>G | ClinVar dbSNP |
| 13 | g.32336607C>T | CA014749 | BRCA2 | c.2252C>T (p.Thr751Ile) c.1883C>T (p.Thr628Ile) n.2252C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336607_32336609delinsCTG | CA2082750636 | BRCA2 | c.2252_2254delinsCTG (p.Thr751=) c.1883_1885delinsCTG (p.Thr628=) n.2252_2254delinsCTG | |
| 13 | g.32336608del | CA2837994563 | BRCA2 | c.2253del (p.Asp752ThrfsTer20) c.1884del (p.Asp629ThrfsTer20) n.2253del | |
| 13 | g.32336608T>A | CA483436985 | BRCA2 | c.2253T>A (p.Thr751=) c.1884T>A (p.Thr628=) n.2253T>A | dbSNP |
| 13 | g.32336608T>C | CA483436988 | BRCA2 | c.2253T>C (p.Thr751=) c.1884T>C (p.Thr628=) n.2253T>C | ClinVar dbSNP |
| 13 | g.32336608T>G | CA6940588 | BRCA2 | c.2253T>G (p.Thr751=) c.1884T>G (p.Thr628=) n.2253T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336608T= | CA2082750656 | BRCA2 | c.2253T= (p.Thr751=) c.1884T= (p.Thr628=) n.2253T= | |
| 13 | g.32336608dup | CA658761156 | BRCA2 | c.2253dup (p.Asp752Ter) c.1884dup (p.Asp629Ter) n.2253dup | ClinVar |
| 13 | g.32336608_32336609del | CA014756 | BRCA2 | c.2253_2254del (p.Asp752LeufsTer10) c.1884_1885del (p.Asp629LeufsTer10) n.2253_2254del | ClinVar dbSNP |
| 13 | g.32336609G>A | CA387770920 | BRCA2 | c.2254G>A (p.Asp752Asn) c.1885G>A (p.Asp629Asn) n.2254G>A | ClinVar dbSNP |
| 13 | g.32336609G>C | CA387770922 | BRCA2 | c.2254G>C (p.Asp752His) c.1885G>C (p.Asp629His) n.2254G>C | ClinVar dbSNP |
| 13 | g.32336609G= | CA2082750673 | BRCA2 | c.2254G= (p.Asp752=) c.1885G= (p.Asp629=) n.2254G= | |
| 13 | g.32336609G>T | CA387770926 | BRCA2 | c.2254G>T (p.Asp752Tyr) c.1885G>T (p.Asp629Tyr) n.2254G>T | dbSNP |
| 13 | g.32336610A= | CA2082750692 | BRCA2 | c.2255A= (p.Asp752=) c.1886A= (p.Asp629=) n.2255A= | |
| 13 | g.32336610A>C | CA387770929 | BRCA2 | c.2255A>C (p.Asp752Ala) c.1886A>C (p.Asp629Ala) n.2255A>C | dbSNP |
| 13 | g.32336610A>G | CA387770932 | BRCA2 | c.2255A>G (p.Asp752Gly) c.1886A>G (p.Asp629Gly) n.2255A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336610A>T | CA387770941 | BRCA2 | c.2255A>T (p.Asp752Val) c.1886A>T (p.Asp629Val) n.2255A>T | dbSNP |
| 13 | g.32336610dup | CA10589146 | BRCA2 | c.2255dup (p.Asp752GlufsTer11) c.1886dup (p.Asp629GlufsTer11) n.2255dup | ClinVar dbSNP |
| 13 | g.32336610_32336611delinsAC | CA2082750689 | BRCA2 | c.2255_2256delinsAC (p.Asp752=) c.1886_1887delinsAC (p.Asp629=) n.2255_2256delinsAC | |
| 13 | g.32336611del | CA10579531 | BRCA2 | c.2256del (p.Gln754AsnfsTer18) c.1887del (p.Gln631AsnfsTer18) n.2256del | ClinVar dbSNP |
| 13 | g.32336611C>A | CA10586057 | BRCA2 | c.2256C>A (p.Asp752Glu) c.1887C>A (p.Asp629Glu) n.2256C>A | ClinVar dbSNP |
| 13 | g.32336611C= | CA2082750716 | BRCA2 | c.2256C= (p.Asp752=) c.1887C= (p.Asp629=) n.2256C= | |
| 13 | g.32336611C>G | CA387770955 | BRCA2 | c.2256C>G (p.Asp752Glu) c.1887C>G (p.Asp629Glu) n.2256C>G | ClinVar dbSNP |
| 13 | g.32336611C>T | CA014775 | BRCA2 | c.2256C>T (p.Asp752=) c.1887C>T (p.Asp629=) n.2256C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336611_32336612delinsCT | CA2082750711 | BRCA2 | c.2256_2257delinsCT (p.Asp752=) c.1887_1888delinsCT (p.Asp629=) n.2256_2257delinsCT | |
| 13 | g.32336612T>A | CA387770968 | BRCA2 | c.2257T>A (p.Phe753Ile) c.1888T>A (p.Phe630Ile) n.2257T>A | dbSNP |
| 13 | g.32336612T>C | CA10583080 | BRCA2 | c.2257T>C (p.Phe753Leu) c.1888T>C (p.Phe630Leu) n.2257T>C | ClinVar dbSNP |
| 13 | g.32336612T>G | CA387770978 | BRCA2 | c.2257T>G (p.Phe753Val) c.1888T>G (p.Phe630Val) n.2257T>G | ClinVar dbSNP |
| 13 | g.32336612T= | CA2082750734 | BRCA2 | c.2257T= (p.Phe753=) c.1888T= (p.Phe630=) n.2257T= | |
| 13 | g.32336614del | CA014791 | BRCA2 | c.2259del (p.Gln754AsnfsTer18) c.1890del (p.Gln631AsnfsTer18) n.2259del | ClinVar dbSNP |
| 13 | g.32336613T>A | CA387770982 | BRCA2 | c.2258T>A (p.Phe753Tyr) c.1889T>A (p.Phe630Tyr) n.2258T>A | dbSNP |
| 13 | g.32336613T>C | CA014783 | BRCA2 | c.2258T>C (p.Phe753Ser) c.1889T>C (p.Phe630Ser) n.2258T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32336613T>G | CA387770993 | BRCA2 | c.2258T>G (p.Phe753Cys) c.1889T>G (p.Phe630Cys) n.2258T>G | |
| 13 | g.32336613T= | CA2082750742 | BRCA2 | c.2258T= (p.Phe753=) c.1889T= (p.Phe630=) n.2258T= | |
| 13 | g.32336613_32336617delinsTTCAA | CA2082750747 | BRCA2 | c.2258_2262delinsTTCAA (p.Phe753=) c.1889_1893delinsTTCAA (p.Phe630=) n.2258_2262delinsTTCAA | |
| 13 | g.32336614T>A | CA387770996 | BRCA2 | c.2259T>A (p.Phe753Leu) c.1890T>A (p.Phe630Leu) n.2259T>A | dbSNP |
| 13 | g.32336614T>C | CA483436999 | BRCA2 | c.2259T>C (p.Phe753=) c.1890T>C (p.Phe630=) n.2259T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336614T>G | CA387770997 | BRCA2 | c.2259T>G (p.Phe753Leu) c.1890T>G (p.Phe630Leu) n.2259T>G | |
| 13 | g.32336614T= | CA2082750758 | BRCA2 | c.2259T= (p.Phe753=) c.1890T= (p.Phe630=) n.2259T= | |
| 13 | g.32336616_32336619del | CA658656369 | BRCA2 | c.2261_2264del (p.Gln754ProfsTer17) c.1892_1895del (p.Gln631ProfsTer17) n.2261_2264del | ClinVar dbSNP |
| 13 | g.32336615C>A | CA014802 | BRCA2 | c.2260C>A (p.Gln754Lys) c.1891C>A (p.Gln631Lys) n.2260C>A | ClinVar dbSNP |
| 13 | g.32336615C= | CA2082750772 | BRCA2 | c.2260C= (p.Gln754=) c.1891C= (p.Gln631=) n.2260C= | |
| 13 | g.32336615C>G | CA387770998 | BRCA2 | c.2260C>G (p.Gln754Glu) c.1891C>G (p.Gln631Glu) n.2260C>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336615C>T | CA387771001 | BRCA2 | c.2260C>T (p.Gln754Ter) c.1891C>T (p.Gln631Ter) n.2260C>T | ClinVar dbSNP |
| 13 | g.32336616A= | CA2082750784 | BRCA2 | c.2261A= (p.Gln754=) c.1892A= (p.Gln631=) n.2261A= | |
| 13 | g.32336616A>C | CA6940589 | BRCA2 | c.2261A>C (p.Gln754Pro) c.1892A>C (p.Gln631Pro) n.2261A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32336616A>G | CA387771010 | BRCA2 | c.2261A>G (p.Gln754Arg) c.1892A>G (p.Gln631Arg) n.2261A>G | ClinVar dbSNP |
| 13 | g.32336616A>T | CA247501855 | BRCA2 | c.2261A>T (p.Gln754Leu) c.1892A>T (p.Gln631Leu) n.2261A>T | dbSNP |
| 13 | g.32336617A= | CA2082750797 | BRCA2 | c.2262A= (p.Gln754=) c.1893A= (p.Gln631=) n.2262A= | |
| 13 | g.32336617A>C | CA387771014 | BRCA2 | c.2262A>C (p.Gln754His) c.1893A>C (p.Gln631His) n.2262A>C | dbSNP |
| 13 | g.32336617A>G | CA16606665 | BRCA2 | c.2262A>G (p.Gln754=) c.1893A>G (p.Gln631=) n.2262A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336617A>T | CA387771017 | BRCA2 | c.2262A>T (p.Gln754His) c.1893A>T (p.Gln631His) n.2262A>T | dbSNP |
| 13 | g.32336618T>A | CA387771025 | BRCA2 | c.2263T>A (p.Ser755Thr) c.1894T>A (p.Ser632Thr) n.2263T>A | gnomAD v4 |
| 13 | g.32336618T>C | CA387771027 | BRCA2 | c.2263T>C (p.Ser755Pro) c.1894T>C (p.Ser632Pro) n.2263T>C | |
| 13 | g.32336618T>G | CA387771028 | BRCA2 | c.2263T>G (p.Ser755Ala) c.1894T>G (p.Ser632Ala) n.2263T>G | |
| 13 | g.32336618T= | CA2082750805 | BRCA2 | c.2263T= (p.Ser755=) c.1894T= (p.Ser632=) n.2263T= | |
| 13 | g.32336619C>A | CA387771032 | BRCA2 | c.2264C>A (p.Ser755Tyr) c.1895C>A (p.Ser632Tyr) n.2264C>A | ClinVar |
| 13 | g.32336619C= | CA2082750813 | BRCA2 | c.2264C= (p.Ser755=) c.1895C= (p.Ser632=) n.2264C= | |
| 13 | g.32336619C>G | CA10579532 | BRCA2 | c.2264C>G (p.Ser755Cys) c.1895C>G (p.Ser632Cys) n.2264C>G | ClinVar dbSNP |
| 13 | g.32336619C>T | CA387771041 | BRCA2 | c.2264C>T (p.Ser755Phe) c.1895C>T (p.Ser632Phe) n.2264C>T | |
| 13 | g.32336621dup | CA10589147 | BRCA2 | c.2266dup (p.Gln756ProfsTer7) c.1897dup (p.Gln633ProfsTer7) n.2266dup | ClinVar dbSNP |
| 13 | g.32336621del | CA2573149374 | BRCA2 | c.2266del (p.Gln756ArgfsTer16) c.1897del (p.Gln633ArgfsTer16) n.2266del | ClinVar dbSNP |
| 13 | g.32336620C>A | CA483437008 | BRCA2 | c.2265C>A (p.Ser755=) c.1896C>A (p.Ser632=) n.2265C>A | |
| 13 | g.32336620C= | CA2082750825 | BRCA2 | c.2265C= (p.Ser755=) c.1896C= (p.Ser632=) n.2265C= | |
| 13 | g.32336620C>G | CA483437009 | BRCA2 | c.2265C>G (p.Ser755=) c.1896C>G (p.Ser632=) n.2265C>G | dbSNP |
| 13 | g.32336620C>T | CA483437010 | BRCA2 | c.2265C>T (p.Ser755=) c.1896C>T (p.Ser632=) n.2265C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32336621C>A | CA387771048 | BRCA2 | c.2266C>A (p.Gln756Lys) c.1897C>A (p.Gln633Lys) n.2266C>A | dbSNP |
| 13 | g.32336621C= | CA2082750830 | BRCA2 | c.2266C= (p.Gln756=) c.1897C= (p.Gln633=) n.2266C= | |
| 13 | g.32336621C>G | CA387771044 | BRCA2 | c.2266C>G (p.Gln756Glu) c.1897C>G (p.Gln633Glu) n.2266C>G | ClinVar dbSNP |
| 13 | g.32336621C>T | CA16043337 | BRCA2 | c.2266C>T (p.Gln756Ter) c.1897C>T (p.Gln633Ter) n.2266C>T | ClinVar dbSNP |
| 13 | g.32336622A= | CA2082750843 | BRCA2 | c.2267A= (p.Gln756=) c.1898A= (p.Gln633=) n.2267A= | |
| 13 | g.32336622A>C | CA387771051 | BRCA2 | c.2267A>C (p.Gln756Pro) c.1898A>C (p.Gln633Pro) n.2267A>C | |
| 13 | g.32336622A>G | CA387771052 | BRCA2 | c.2267A>G (p.Gln756Arg) c.1898A>G (p.Gln633Arg) n.2267A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32336622A>T | CA387771053 | BRCA2 | c.2267A>T (p.Gln756Leu) c.1898A>T (p.Gln633Leu) n.2267A>T | dbSNP |
| 13 | g.32336623G>A | CA483437013 | BRCA2 | c.2268G>A (p.Gln756=) c.1899G>A (p.Gln633=) n.2268G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32336623G>C | CA387771054 | BRCA2 | c.2268G>C (p.Gln756His) c.1899G>C (p.Gln633His) n.2268G>C | dbSNP |
| 13 | g.32336623G= | CA2082750858 | BRCA2 | c.2268G= (p.Gln756=) c.1899G= (p.Gln633=) n.2268G= | |
| 13 | g.32336623G>T | CA387771055 | BRCA2 | c.2268G>T (p.Gln756His) c.1899G>T (p.Gln633His) n.2268G>T | |
| 13 | g.32336623_32336625delinsGAA | CA2082750855 | BRCA2 | c.2268_2270delinsGAA (p.Gln756=) c.1899_1901delinsGAA (p.Gln633=) n.2268_2270delinsGAA | |
| 13 | g.32336624A= | CA2082750887 | BRCA2 | c.2269A= (p.Lys757=) c.1900A= (p.Lys634=) n.2269A= | |
| 13 | g.32336624A>C | CA387771057 | BRCA2 | c.2269A>C (p.Lys757Gln) c.1900A>C (p.Lys634Gln) n.2269A>C | dbSNP |
| 13 | g.32336624A>G | CA16613937 | BRCA2 | c.2269A>G (p.Lys757Glu) c.1900A>G (p.Lys634Glu) n.2269A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336624A>T | CA10589148 | BRCA2 | c.2269A>T (p.Lys757Ter) c.1900A>T (p.Lys634Ter) n.2269A>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336627del | CA658656370 | BRCA2 | c.2272del (p.Ser758ValfsTer14) c.1903del (p.Ser635ValfsTer14) n.2272del | ClinVar dbSNP |
| 13 | g.32336626_32336627del | CA10589149 | BRCA2 | c.2271_2272del (p.Leu759PhefsTer3) c.1902_1903del (p.Leu636PhefsTer3) n.2271_2272del | ClinVar dbSNP |
| 13 | g.32336625A= | CA2082750908 | BRCA2 | c.2270A= (p.Lys757=) c.1901A= (p.Lys634=) n.2270A= | |
| 13 | g.32336625A>C | CA387771064 | BRCA2 | c.2270A>C (p.Lys757Thr) c.1901A>C (p.Lys634Thr) n.2270A>C | |
| 13 | g.32336625A>G | CA6940590 | BRCA2 | c.2270A>G (p.Lys757Arg) c.1901A>G (p.Lys634Arg) n.2270A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336625A>T | CA387771067 | BRCA2 | c.2270A>T (p.Lys757Ile) c.1901A>T (p.Lys634Ile) n.2270A>T | dbSNP |
| 13 | g.32336626A>C | CA387771068 | BRCA2 | c.2271A>C (p.Lys757Asn) c.1902A>C (p.Lys634Asn) n.2271A>C | dbSNP |
| 13 | g.32336626A>G | CA483437019 | BRCA2 | c.2271A>G (p.Lys757=) c.1902A>G (p.Lys634=) n.2271A>G | |
| 13 | g.32336626A>T | CA387771069 | BRCA2 | c.2271A>T (p.Lys757Asn) c.1902A>T (p.Lys634Asn) n.2271A>T | dbSNP |
| 13 | g.32336627A>C | CA387771073 | BRCA2 | c.2272A>C (p.Ser758Arg) c.1903A>C (p.Ser635Arg) n.2272A>C | |
| 13 | g.32336627A>G | CA387771071 | BRCA2 | c.2272A>G (p.Ser758Gly) c.1903A>G (p.Ser635Gly) n.2272A>G | |
| 13 | g.32336627A>T | CA387771070 | BRCA2 | c.2272A>T (p.Ser758Cys) c.1903A>T (p.Ser635Cys) n.2272A>T | |
| 13 | g.32336627_32336628delinsAG | CA2082750921 | BRCA2 | c.2272_2273delinsAG (p.Ser758=) c.1903_1904delinsAG (p.Ser635=) n.2272_2273delinsAG | |
| 13 | g.32336628del | CA16619668 | BRCA2 | c.2273del (p.Ser758IlefsTer14) c.1904del (p.Ser635IlefsTer14) n.2273del | ClinVar dbSNP |
| 13 | g.32336628G>A | CA387771075 | BRCA2 | c.2273G>A (p.Ser758Asn) c.1904G>A (p.Ser635Asn) n.2273G>A | ClinVar dbSNP |
| 13 | g.32336628G>C | CA387771077 | BRCA2 | c.2273G>C (p.Ser758Thr) c.1904G>C (p.Ser635Thr) n.2273G>C | dbSNP |
| 13 | g.32336628G= | CA2082750931 | BRCA2 | c.2273G= (p.Ser758=) c.1904G= (p.Ser635=) n.2273G= | |
| 13 | g.32336628G>T | CA387771080 | BRCA2 | c.2273G>T (p.Ser758Ile) c.1904G>T (p.Ser635Ile) n.2273G>T | dbSNP |
| 13 | g.32336629T>A | CA387771085 | BRCA2 | c.2274T>A (p.Ser758Arg) c.1905T>A (p.Ser635Arg) n.2274T>A | dbSNP |
| 13 | g.32336629T>C | CA014821 | BRCA2 | c.2274T>C (p.Ser758=) c.1905T>C (p.Ser635=) n.2274T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32336629T>G | CA014830 | BRCA2 | c.2274T>G (p.Ser758Arg) c.1905T>G (p.Ser635Arg) n.2274T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336629T= | CA2082750944 | BRCA2 | c.2274T= (p.Ser758=) c.1905T= (p.Ser635=) n.2274T= | |
| 13 | g.32336630del | CA658761160 | BRCA2 | c.2275del (p.Leu759PhefsTer13) c.1906del (p.Leu636PhefsTer13) n.2275del | ClinVar dbSNP |
| 13 | g.32336630C>A | CA387771100 | BRCA2 | c.2275C>A (p.Leu759Ile) c.1906C>A (p.Leu636Ile) n.2275C>A | dbSNP COSMIC COSMIC |
| 13 | g.32336630C= | CA2082750960 | BRCA2 | c.2275C= (p.Leu759=) c.1906C= (p.Leu636=) n.2275C= | |
| 13 | g.32336630C>G | CA387771104 | BRCA2 | c.2275C>G (p.Leu759Val) c.1906C>G (p.Leu636Val) n.2275C>G | |
| 13 | g.32336630C>T | CA014843 | BRCA2 | c.2275C>T (p.Leu759Phe) c.1906C>T (p.Leu636Phe) n.2275C>T | ClinVar dbSNP |
| 13 | g.32336630_32336632delinsCTT | CA2082750959 | BRCA2 | c.2275_2277delinsCTT (p.Leu759=) c.1906_1908delinsCTT (p.Leu636=) n.2275_2277delinsCTT | |
| 13 | g.32336631T>A | CA387771108 | BRCA2 | c.2276T>A (p.Leu759His) c.1907T>A (p.Leu636His) n.2276T>A | dbSNP |
| 13 | g.32336631T>C | CA387771110 | BRCA2 | c.2276T>C (p.Leu759Pro) c.1907T>C (p.Leu636Pro) n.2276T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32336631T>G | CA387771112 | BRCA2 | c.2276T>G (p.Leu759Arg) c.1907T>G (p.Leu636Arg) n.2276T>G | |
| 13 | g.32336631T= | CA2082750973 | BRCA2 | c.2276T= (p.Leu759=) c.1907T= (p.Leu636=) n.2276T= | |
| 13 | g.32336634del | CA10586500 | BRCA2 | c.2279del (p.Leu760TyrfsTer12) c.1910del (p.Leu637TyrfsTer12) n.2279del | ClinVar dbSNP |
| 13 | g.32336633_32336634del | CA10589150 | BRCA2 | c.2278_2279del (p.Leu760IlefsTer2) c.1909_1910del (p.Leu637IlefsTer2) n.2278_2279del | ClinVar dbSNP |
| 13 | g.32336632T>A | CA483437030 | BRCA2 | c.2277T>A (p.Leu759=) c.1908T>A (p.Leu636=) n.2277T>A | dbSNP |
| 13 | g.32336632T>C | CA483437032 | BRCA2 | c.2277T>C (p.Leu759=) c.1908T>C (p.Leu636=) n.2277T>C | dbSNP |
| 13 | g.32336632T>G | CA483437034 | BRCA2 | c.2277T>G (p.Leu759=) c.1908T>G (p.Leu636=) n.2277T>G | |
| 13 | g.32336632_32336637delinsTTTATA | CA2082750983 | BRCA2 | c.2277_2282delinsTTTATA (p.Leu759=) c.1908_1913delinsTTTATA (p.Leu636=) n.2277_2282delinsTTTATA | |
| 13 | g.32336633T>A | CA387771117 | BRCA2 | c.2278T>A (p.Leu760Ile) c.1909T>A (p.Leu637Ile) n.2278T>A | dbSNP |
| 13 | g.32336633T>C | CA483437037 | BRCA2 | c.2278T>C (p.Leu760=) c.1909T>C (p.Leu637=) n.2278T>C | ClinVar dbSNP |
| 13 | g.32336633T>G | CA387771119 | BRCA2 | c.2278T>G (p.Leu760Val) c.1909T>G (p.Leu637Val) n.2278T>G | dbSNP |
| 13 | g.32336633_32336635delinsTTA | CA2082750996 | BRCA2 | c.2278_2280delinsTTA (p.Leu760=) c.1909_1911delinsTTA (p.Leu637=) n.2278_2280delinsTTA | |
| 13 | g.32336634_32336638dup | CA2082750994 | BRCA2 | c.2279_2283dup (p.Asp762TyrfsTer12) c.1910_1914dup (p.Asp639TyrfsTer12) n.2279_2283dup | dbSNP |
| 13 | g.32336634_32336638del | CA6940591 | BRCA2 | c.2279_2283del (p.Leu760Ter) c.1910_1914del (p.Leu637Ter) n.2279_2283del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336634T>A | CA387771127 | BRCA2 | c.2279T>A (p.Leu760Ter) c.1910T>A (p.Leu637Ter) n.2279T>A | dbSNP |
| 13 | g.32336634T>C | CA6940592 | BRCA2 | c.2279T>C (p.Leu760Ser) c.1910T>C (p.Leu637Ser) n.2279T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32336634T>G | CA387771129 | BRCA2 | c.2279T>G (p.Leu760Ter) c.1910T>G (p.Leu637Ter) n.2279T>G | ClinVar dbSNP |
| 13 | g.32336634T= | CA2082751013 | BRCA2 | c.2279T= (p.Leu760=) c.1910T= (p.Leu637=) n.2279T= | |
| 13 | g.32336637_32336638del | CA658656372 | BRCA2 | c.2282_2283del (p.Tyr761Ter) c.1913_1914del (p.Tyr638Ter) n.2282_2283del | ClinVar dbSNP |
| 13 | g.32336635A= | CA2082751019 | BRCA2 | c.2280A= (p.Leu760=) c.1911A= (p.Leu637=) n.2280A= | |
| 13 | g.32336635A>C | CA387771131 | BRCA2 | c.2280A>C (p.Leu760Phe) c.1911A>C (p.Leu637Phe) n.2280A>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336635A>G | CA483437038 | BRCA2 | c.2280A>G (p.Leu760=) c.1911A>G (p.Leu637=) n.2280A>G | ClinVar |
| 13 | g.32336635A>T | CA387771130 | BRCA2 | c.2280A>T (p.Leu760Phe) c.1911A>T (p.Leu637Phe) n.2280A>T | dbSNP |
| 13 | g.32336636T>A | CA387771133 | BRCA2 | c.2281T>A (p.Tyr761Asn) c.1912T>A (p.Tyr638Asn) n.2281T>A | |
| 13 | g.32336636T>C | CA014861 | BRCA2 | c.2281T>C (p.Tyr761His) c.1912T>C (p.Tyr638His) n.2281T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32336636T>G | CA387771135 | BRCA2 | c.2281T>G (p.Tyr761Asp) c.1912T>G (p.Tyr638Asp) n.2281T>G | |
| 13 | g.32336636T= | CA2082751027 | BRCA2 | c.2281T= (p.Tyr761=) c.1912T= (p.Tyr638=) n.2281T= | |
| 13 | g.32336637A= | CA2082751043 | BRCA2 | c.2282A= (p.Tyr761=) c.1913A= (p.Tyr638=) n.2282A= | |
| 13 | g.32336637A>C | CA10586058 | BRCA2 | c.2282A>C (p.Tyr761Ser) c.1913A>C (p.Tyr638Ser) n.2282A>C | ClinVar dbSNP |
| 13 | g.32336637A>G | CA387771143 | BRCA2 | c.2282A>G (p.Tyr761Cys) c.1913A>G (p.Tyr638Cys) n.2282A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336637A>T | CA387771141 | BRCA2 | c.2282A>T (p.Tyr761Phe) c.1913A>T (p.Tyr638Phe) n.2282A>T | dbSNP |
| 13 | g.32336641_32336646del | CA2727917193 | BRCA2 | c.2286_2291del (p.Asp762_His763del) c.1917_1922del (p.Asp639_His640del) n.2286_2291del | dbSNP |
| 13 | g.32336638T>A | CA387771150 | BRCA2 | c.2283T>A (p.Tyr761Ter) c.1914T>A (p.Tyr638Ter) n.2283T>A | ClinVar dbSNP |
| 13 | g.32336638T>C | CA483437055 | BRCA2 | c.2283T>C (p.Tyr761=) c.1914T>C (p.Tyr638=) n.2283T>C | ClinVar dbSNP |
| 13 | g.32336638T>G | CA247501913 | BRCA2 | c.2283T>G (p.Tyr761Ter) c.1914T>G (p.Tyr638Ter) n.2283T>G | dbSNP |
| 13 | g.32336638T= | CA2082751054 | BRCA2 | c.2283T= (p.Tyr761=) c.1914T= (p.Tyr638=) n.2283T= | |
| 13 | g.32336639G>A | CA387771159 | BRCA2 | c.2284G>A (p.Asp762Asn) c.1915G>A (p.Asp639Asn) n.2284G>A | dbSNP |
| 13 | g.32336639G>C | CA387771163 | BRCA2 | c.2284G>C (p.Asp762His) c.1915G>C (p.Asp639His) n.2284G>C | dbSNP |
| 13 | g.32336639G>T | CA387771166 | BRCA2 | c.2284G>T (p.Asp762Tyr) c.1915G>T (p.Asp639Tyr) n.2284G>T | dbSNP |
| 13 | g.32336640A= | CA2082751070 | BRCA2 | c.2285A= (p.Asp762=) c.1916A= (p.Asp639=) n.2285A= | |
| 13 | g.32336640A>C | CA387771168 | BRCA2 | c.2285A>C (p.Asp762Ala) c.1916A>C (p.Asp639Ala) n.2285A>C | |
| 13 | g.32336640A>G | CA387771169 | BRCA2 | c.2285A>G (p.Asp762Gly) c.1916A>G (p.Asp639Gly) n.2285A>G | ClinVar dbSNP |
| 13 | g.32336640A>T | CA387771170 | BRCA2 | c.2285A>T (p.Asp762Val) c.1916A>T (p.Asp639Val) n.2285A>T | ClinVar dbSNP |
| 13 | g.32336640_32336644del | CA2580612211 | BRCA2 | c.2285_2289del (p.Asp762GlyfsTer24) c.1916_1920del (p.Asp639GlyfsTer24) n.2285_2289del | |
| 13 | g.32336641T>A | CA387771171 | BRCA2 | c.2286T>A (p.Asp762Glu) c.1917T>A (p.Asp639Glu) n.2286T>A | dbSNP |
| 13 | g.32336641T>C | CA014873 | BRCA2 | c.2286T>C (p.Asp762=) c.1917T>C (p.Asp639=) n.2286T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336641T>G | CA387771173 | BRCA2 | c.2286T>G (p.Asp762Glu) c.1917T>G (p.Asp639Glu) n.2286T>G | dbSNP |
| 13 | g.32336641T= | CA2082751083 | BRCA2 | c.2286T= (p.Asp762=) c.1917T= (p.Asp639=) n.2286T= | |
| 13 | g.32336641_32336642delinsTC | CA2082751077 | BRCA2 | c.2286_2287delinsTC (p.Asp762=) c.1917_1918delinsTC (p.Asp639=) n.2286_2287delinsTC | |
| 13 | g.32336642del | CA014881 | BRCA2 | c.2287del (p.His763MetfsTer9) c.1918del (p.His640MetfsTer9) n.2287del | ClinVar dbSNP |
| 13 | g.32336642C>A | CA387771198 | BRCA2 | c.2287C>A (p.His763Asn) c.1918C>A (p.His640Asn) n.2287C>A | gnomAD v4 |
| 13 | g.32336642C= | CA2082751101 | BRCA2 | c.2287C= (p.His763=) c.1918C= (p.His640=) n.2287C= | |
| 13 | g.32336642C>G | CA339089 | BRCA2 | c.2287C>G (p.His763Asp) c.1918C>G (p.His640Asp) n.2287C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336642C>T | CA387771178 | BRCA2 | c.2287C>T (p.His763Tyr) c.1918C>T (p.His640Tyr) n.2287C>T | ClinVar dbSNP |
| 13 | g.32336643A>C | CA387771201 | BRCA2 | c.2288A>C (p.His763Pro) c.1919A>C (p.His640Pro) n.2288A>C | |
| 13 | g.32336643A>G | CA387771203 | BRCA2 | c.2288A>G (p.His763Arg) c.1919A>G (p.His640Arg) n.2288A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336643A>T | CA387771212 | BRCA2 | c.2288A>T (p.His763Leu) c.1919A>T (p.His640Leu) n.2288A>T | dbSNP |
| 13 | g.32336644T>A | CA387771217 | BRCA2 | c.2289T>A (p.His763Gln) c.1920T>A (p.His640Gln) n.2289T>A | ClinVar dbSNP |
| 13 | g.32336644T>C | CA483437067 | BRCA2 | c.2289T>C (p.His763=) c.1920T>C (p.His640=) n.2289T>C | ClinVar dbSNP |
| 13 | g.32336644T>G | CA6940593 | BRCA2 | c.2289T>G (p.His763Gln) c.1920T>G (p.His640Gln) n.2289T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32336644T= | CA2082751110 | BRCA2 | c.2289T= (p.His763=) c.1920T= (p.His640=) n.2289T= | |
| 13 | g.32336645G>A | CA387771220 | BRCA2 | c.2290G>A (p.Glu764Lys) c.1921G>A (p.Glu641Lys) n.2290G>A | COSMIC COSMIC |
| 13 | g.32336645G>C | CA014892 | BRCA2 | c.2290G>C (p.Glu764Gln) c.1921G>C (p.Glu641Gln) n.2290G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32336645G= | CA2082751125 | BRCA2 | c.2290G= (p.Glu764=) c.1921G= (p.Glu641=) n.2290G= | |
| 13 | g.32336645G>T | CA387771230 | BRCA2 | c.2290G>T (p.Glu764Ter) c.1921G>T (p.Glu641Ter) n.2290G>T | |
| 13 | g.32336646A>C | CA387771235 | BRCA2 | c.2291A>C (p.Glu764Ala) c.1922A>C (p.Glu641Ala) n.2291A>C | dbSNP |
| 13 | g.32336646A>G | CA387771237 | BRCA2 | c.2291A>G (p.Glu764Gly) c.1922A>G (p.Glu641Gly) n.2291A>G | dbSNP |
| 13 | g.32336646A>T | CA387771239 | BRCA2 | c.2291A>T (p.Glu764Val) c.1922A>T (p.Glu641Val) n.2291A>T | dbSNP |
| 13 | g.32336647A>C | CA387771242 | BRCA2 | c.2292A>C (p.Glu764Asp) c.1923A>C (p.Glu641Asp) n.2292A>C | |
| 13 | g.32336647A>G | CA483437072 | BRCA2 | c.2292A>G (p.Glu764=) c.1923A>G (p.Glu641=) n.2292A>G | |
| 13 | g.32336647A>T | CA387771246 | BRCA2 | c.2292A>T (p.Glu764Asp) c.1923A>T (p.Glu641Asp) n.2292A>T | dbSNP |
| 13 | g.32336648A>C | CA387771251 | BRCA2 | c.2293A>C (p.Asn765His) c.1924A>C (p.Asn642His) n.2293A>C | dbSNP COSMIC COSMIC |
| 13 | g.32336648A>G | CA387771252 | BRCA2 | c.2293A>G (p.Asn765Asp) c.1924A>G (p.Asn642Asp) n.2293A>G | dbSNP |
| 13 | g.32336648A>T | CA387771253 | BRCA2 | c.2293A>T (p.Asn765Tyr) c.1924A>T (p.Asn642Tyr) n.2293A>T | dbSNP |
| 13 | g.32336649A>C | CA387771254 | BRCA2 | c.2294A>C (p.Asn765Thr) c.1925A>C (p.Asn642Thr) n.2294A>C | |
| 13 | g.32336649A>G | CA387771255 | BRCA2 | c.2294A>G (p.Asn765Ser) c.1925A>G (p.Asn642Ser) n.2294A>G | ClinVar dbSNP |
| 13 | g.32336649A>T | CA387771256 | BRCA2 | c.2294A>T (p.Asn765Ile) c.1925A>T (p.Asn642Ile) n.2294A>T | dbSNP |
| 13 | g.32336650T>A | CA387771260 | BRCA2 | c.2295T>A (p.Asn765Lys) c.1926T>A (p.Asn642Lys) n.2295T>A | dbSNP |
| 13 | g.32336650T>C | CA483437077 | BRCA2 | c.2295T>C (p.Asn765=) c.1926T>C (p.Asn642=) n.2295T>C | ClinVar dbSNP |
| 13 | g.32336650T>G | CA387771259 | BRCA2 | c.2295T>G (p.Asn765Lys) c.1926T>G (p.Asn642Lys) n.2295T>G | |
| 13 | g.32336650T= | CA2082751134 | BRCA2 | c.2295T= (p.Asn765=) c.1926T= (p.Asn642=) n.2295T= | |
| 13 | g.32336651G>A | CA387771263 | BRCA2 | c.2296G>A (p.Ala766Thr) c.1927G>A (p.Ala643Thr) n.2296G>A | ClinVar COSMIC COSMIC |
| 13 | g.32336651G>C | CA387771265 | BRCA2 | c.2296G>C (p.Ala766Pro) c.1927G>C (p.Ala643Pro) n.2296G>C | |
| 13 | g.32336651G>T | CA387771266 | BRCA2 | c.2296G>T (p.Ala766Ser) c.1927G>T (p.Ala643Ser) n.2296G>T | |
| 13 | g.32336652C>A | CA387771268 | BRCA2 | c.2297C>A (p.Ala766Asp) c.1928C>A (p.Ala643Asp) n.2297C>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336652C= | CA2082751142 | BRCA2 | c.2297C= (p.Ala766=) c.1928C= (p.Ala643=) n.2297C= | |
| 13 | g.32336652C>G | CA387771270 | BRCA2 | c.2297C>G (p.Ala766Gly) c.1928C>G (p.Ala643Gly) n.2297C>G | dbSNP |
| 13 | g.32336652C>T | CA387771274 | BRCA2 | c.2297C>T (p.Ala766Val) c.1928C>T (p.Ala643Val) n.2297C>T | ClinVar dbSNP |
| 13 | g.32336653C>A | CA483437082 | BRCA2 | c.2298C>A (p.Ala766=) c.1929C>A (p.Ala643=) n.2298C>A | dbSNP |
| 13 | g.32336653C= | CA2082751150 | BRCA2 | c.2298C= (p.Ala766=) c.1929C= (p.Ala643=) n.2298C= | |
| 13 | g.32336653C>G | CA483437084 | BRCA2 | c.2298C>G (p.Ala766=) c.1929C>G (p.Ala643=) n.2298C>G | dbSNP |
| 13 | g.32336653C>T | CA483437086 | BRCA2 | c.2298C>T (p.Ala766=) c.1929C>T (p.Ala643=) n.2298C>T | ClinVar dbSNP gnomAD v2 |
| 13 | g.32336654A= | CA2082751159 | BRCA2 | c.2299A= (p.Ser767=) c.1930A= (p.Ser644=) n.2299A= | |
| 13 | g.32336654A>C | CA6940594 | BRCA2 | c.2299A>C (p.Ser767Arg) c.1930A>C (p.Ser644Arg) n.2299A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336654A>G | CA387771288 | BRCA2 | c.2299A>G (p.Ser767Gly) c.1930A>G (p.Ser644Gly) n.2299A>G | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32336654A>T | CA387771286 | BRCA2 | c.2299A>T (p.Ser767Cys) c.1930A>T (p.Ser644Cys) n.2299A>T | dbSNP |
| 13 | g.32336655G>A | CA387771292 | BRCA2 | c.2300G>A (p.Ser767Asn) c.1931G>A (p.Ser644Asn) n.2300G>A | ClinVar dbSNP |
| 13 | g.32336655G>C | CA387771295 | BRCA2 | c.2300G>C (p.Ser767Thr) c.1931G>C (p.Ser644Thr) n.2300G>C | ClinVar dbSNP |
| 13 | g.32336655G>T | CA387771297 | BRCA2 | c.2300G>T (p.Ser767Ile) c.1931G>T (p.Ser644Ile) n.2300G>T | dbSNP |
| 13 | g.32336656C>A | CA387771300 | BRCA2 | c.2301C>A (p.Ser767Arg) c.1932C>A (p.Ser644Arg) n.2301C>A | dbSNP |
| 13 | g.32336656C= | CA2082751167 | BRCA2 | c.2301C= (p.Ser767=) c.1932C= (p.Ser644=) n.2301C= | |
| 13 | g.32336656C>G | CA387771304 | BRCA2 | c.2301C>G (p.Ser767Arg) c.1932C>G (p.Ser644Arg) n.2301C>G | ClinVar dbSNP |
| 13 | g.32336656C>T | CA483437095 | BRCA2 | c.2301C>T (p.Ser767=) c.1932C>T (p.Ser644=) n.2301C>T | dbSNP |
| 13 | g.32336657A>C | CA387771308 | BRCA2 | c.2302A>C (p.Thr768Pro) c.1933A>C (p.Thr645Pro) n.2302A>C | dbSNP |
| 13 | g.32336657A>G | CA387771317 | BRCA2 | c.2302A>G (p.Thr768Ala) c.1933A>G (p.Thr645Ala) n.2302A>G | ClinVar |
| 13 | g.32336657A>T | CA387771320 | BRCA2 | c.2302A>T (p.Thr768Ser) c.1933A>T (p.Thr645Ser) n.2302A>T | dbSNP |
| 13 | g.32336658C>A | CA387771330 | BRCA2 | c.2303C>A (p.Thr768Asn) c.1934C>A (p.Thr645Asn) n.2303C>A | ClinVar dbSNP |
| 13 | g.32336658C= | CA2082751173 | BRCA2 | c.2303C= (p.Thr768=) c.1934C= (p.Thr645=) n.2303C= | |
| 13 | g.32336658C>G | CA387771342 | BRCA2 | c.2303C>G (p.Thr768Ser) c.1934C>G (p.Thr645Ser) n.2303C>G | ClinVar dbSNP |
| 13 | g.32336658C>T | CA014909 | BRCA2 | c.2303C>T (p.Thr768Ile) c.1934C>T (p.Thr645Ile) n.2303C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336659T>A | CA483437102 | BRCA2 | c.2304T>A (p.Thr768=) c.1935T>A (p.Thr645=) n.2304T>A | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32336659T>C | CA483437103 | BRCA2 | c.2304T>C (p.Thr768=) c.1935T>C (p.Thr645=) n.2304T>C | |
| 13 | g.32336659T>G | CA483437104 | BRCA2 | c.2304T>G (p.Thr768=) c.1935T>G (p.Thr645=) n.2304T>G | ClinVar dbSNP |
| 13 | g.32336659T= | CA2082751185 | BRCA2 | c.2304T= (p.Thr768=) c.1935T= (p.Thr645=) n.2304T= | |
| 13 | g.32336660C>A | CA387771350 | BRCA2 | c.2305C>A (p.Leu769Ile) c.1936C>A (p.Leu646Ile) n.2305C>A | dbSNP |
| 13 | g.32336660C= | CA2082751204 | BRCA2 | c.2305C= (p.Leu769=) c.1936C= (p.Leu646=) n.2305C= | |
| 13 | g.32336660C>G | CA387771349 | BRCA2 | c.2305C>G (p.Leu769Val) c.1936C>G (p.Leu646Val) n.2305C>G | ClinVar dbSNP |
| 13 | g.32336660C>T | CA387771348 | BRCA2 | c.2305C>T (p.Leu769Phe) c.1936C>T (p.Leu646Phe) n.2305C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336660_32336661delinsCT | CA2082751208 | BRCA2 | c.2305_2306delinsCT (p.Leu769=) c.1936_1937delinsCT (p.Leu646=) n.2305_2306delinsCT | |
| 13 | g.32336660_32336665delinsCTTATT | CA2082751206 | BRCA2 | c.2305_2310delinsCTTATT (p.Leu769=) c.1936_1941delinsCTTATT (p.Leu646=) n.2305_2310delinsCTTATT | |
| 13 | g.32336660_32336666delinsCTTATTT | CA2082751194 | BRCA2 | c.2305_2311delinsCTTATTT (p.Leu769=) c.1936_1942delinsCTTATTT (p.Leu646=) n.2305_2311delinsCTTATTT | |
| 13 | g.32336660_32336661insATAAGAG | CA645573201 | BRCA2 | c.2305_2306insATAAGAG (p.Leu769HisfsTer21) c.1936_1937insATAAGAG (p.Leu646HisfsTer21) n.2305_2306insATAAGAG | COSMIC COSMIC |
| 13 | g.32336661T>A | CA387771353 | BRCA2 | c.2306T>A (p.Leu769His) c.1937T>A (p.Leu646His) n.2306T>A | |
| 13 | g.32336661T>C | CA387771352 | BRCA2 | c.2306T>C (p.Leu769Pro) c.1937T>C (p.Leu646Pro) n.2306T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336661T>G | CA387771356 | BRCA2 | c.2306T>G (p.Leu769Arg) c.1937T>G (p.Leu646Arg) n.2306T>G | ClinVar dbSNP |
| 13 | g.32336661T= | CA2082751237 | BRCA2 | c.2306T= (p.Leu769=) c.1937T= (p.Leu646=) n.2306T= | |
| 13 | g.32336662del | CA919242542 | BRCA2 | c.2307del (p.Ile770PhefsTer2) c.1938del (p.Ile647PhefsTer2) n.2307del | dbSNP |
| 13 | g.32336662_32336667del | CA658798108 | BRCA2 | c.2307_2312del (p.Ile770_Leu771del) c.1938_1943del (p.Ile647_Leu648del) n.2307_2312del | ClinVar dbSNP |
| 13 | g.32336664_32336668del | CA915946984 | BRCA2 | c.2309_2313del (p.Ile770AsnfsTer16) c.1940_1944del (p.Ile647AsnfsTer16) n.2309_2313del | ClinVar dbSNP |
| 13 | g.32336662T>A | CA483437108 | BRCA2 | c.2307T>A (p.Leu769=) c.1938T>A (p.Leu646=) n.2307T>A | ClinVar dbSNP |
| 13 | g.32336662T>C | CA483437109 | BRCA2 | c.2307T>C (p.Leu769=) c.1938T>C (p.Leu646=) n.2307T>C | dbSNP |
| 13 | g.32336662T>G | CA483437112 | BRCA2 | c.2307T>G (p.Leu769=) c.1938T>G (p.Leu646=) n.2307T>G | ClinVar |
| 13 | g.32336662T= | CA2082751252 | BRCA2 | c.2307T= (p.Leu769=) c.1938T= (p.Leu646=) n.2307T= | |
| 13 | g.32336663A= | CA2082751260 | BRCA2 | c.2308A= (p.Ile770=) c.1939A= (p.Ile647=) n.2308A= | |
| 13 | g.32336663A>C | CA387771359 | BRCA2 | c.2308A>C (p.Ile770Leu) c.1939A>C (p.Ile647Leu) n.2308A>C | |
| 13 | g.32336663A>G | CA387771361 | BRCA2 | c.2308A>G (p.Ile770Val) c.1939A>G (p.Ile647Val) n.2308A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336663A>T | CA387771363 | BRCA2 | c.2308A>T (p.Ile770Phe) c.1939A>T (p.Ile647Phe) n.2308A>T | |
| 13 | g.32336663_32336664insAAA | CA645573202 | BRCA2 | c.2308_2309insAAA (p.Leu769_Ile770insLys) c.1939_1940insAAA (p.Leu646_Ile647insLys) n.2308_2309insAAA | COSMIC COSMIC |
| 13 | g.32336664T>A | CA387771371 | BRCA2 | c.2309T>A (p.Ile770Asn) c.1940T>A (p.Ile647Asn) n.2309T>A | dbSNP COSMIC COSMIC |
| 13 | g.32336664T>C | CA387771373 | BRCA2 | c.2309T>C (p.Ile770Thr) c.1940T>C (p.Ile647Thr) n.2309T>C | dbSNP |
| 13 | g.32336664T>G | CA387771378 | BRCA2 | c.2309T>G (p.Ile770Ser) c.1940T>G (p.Ile647Ser) n.2309T>G | |
| 13 | g.32336667del | CA2580087258 | BRCA2 | c.2312del (p.Leu771Ter) c.1943del (p.Leu648Ter) n.2312del | ClinVar dbSNP |
| 13 | g.32336664_32336665insAA | CA645573203 | BRCA2 | c.2309_2310insAA (p.Leu771IlefsTer2) c.1940_1941insAA (p.Leu648IlefsTer2) n.2309_2310insAA | COSMIC COSMIC |
| 13 | g.32336665T>A | CA483437113 | BRCA2 | c.2310T>A (p.Ile770=) c.1941T>A (p.Ile647=) n.2310T>A | ClinVar dbSNP |
| 13 | g.32336665T>C | CA483437114 | BRCA2 | c.2310T>C (p.Ile770=) c.1941T>C (p.Ile647=) n.2310T>C | |
| 13 | g.32336665T>G | CA387771381 | BRCA2 | c.2310T>G (p.Ile770Met) c.1941T>G (p.Ile647Met) n.2310T>G | |
| 13 | g.32336666T>A | CA387771387 | BRCA2 | c.2311T>A (p.Leu771Ile) c.1942T>A (p.Leu648Ile) n.2311T>A | dbSNP |
| 13 | g.32336666T>C | CA483437117 | BRCA2 | c.2311T>C (p.Leu771=) c.1942T>C (p.Leu648=) n.2311T>C | |
| 13 | g.32336666T>G | CA387771390 | BRCA2 | c.2311T>G (p.Leu771Val) c.1942T>G (p.Leu648Val) n.2311T>G | ClinVar dbSNP |
| 13 | g.32336666T= | CA2082751267 | BRCA2 | c.2311T= (p.Leu771=) c.1942T= (p.Leu648=) n.2311T= | |
| 13 | g.32336667T>A | CA387771397 | BRCA2 | c.2312T>A (p.Leu771Ter) c.1943T>A (p.Leu648Ter) n.2312T>A | |
| 13 | g.32336667T>C | CA387771409 | BRCA2 | c.2312T>C (p.Leu771Ser) c.1943T>C (p.Leu648Ser) n.2312T>C | gnomAD v4 |
| 13 | g.32336667T>G | CA014913 | BRCA2 | c.2312T>G (p.Leu771Ter) c.1943T>G (p.Leu648Ter) n.2312T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336667T= | CA2082751277 | BRCA2 | c.2312T= (p.Leu771=) c.1943T= (p.Leu648=) n.2312T= | |
| 13 | g.32336668A>C | CA387771414 | BRCA2 | c.2313A>C (p.Leu771Phe) c.1944A>C (p.Leu648Phe) n.2313A>C | |
| 13 | g.32336668A>G | CA483437120 | BRCA2 | c.2313A>G (p.Leu771=) c.1944A>G (p.Leu648=) n.2313A>G | |
| 13 | g.32336668A>T | CA387771412 | BRCA2 | c.2313A>T (p.Leu771Phe) c.1944A>T (p.Leu648Phe) n.2313A>T | dbSNP |
| 13 | g.32336669A>C | CA387771419 | BRCA2 | c.2314A>C (p.Thr772Pro) c.1945A>C (p.Thr649Pro) n.2314A>C | dbSNP |
| 13 | g.32336669A>G | CA387771421 | BRCA2 | c.2314A>G (p.Thr772Ala) c.1945A>G (p.Thr649Ala) n.2314A>G | dbSNP |
| 13 | g.32336669A>T | CA387771423 | BRCA2 | c.2314A>T (p.Thr772Ser) c.1945A>T (p.Thr649Ser) n.2314A>T | dbSNP |
| 13 | g.32336670C>A | CA387771426 | BRCA2 | c.2315C>A (p.Thr772Asn) c.1946C>A (p.Thr649Asn) n.2315C>A | dbSNP |
| 13 | g.32336670C= | CA2082751291 | BRCA2 | c.2315C= (p.Thr772=) c.1946C= (p.Thr649=) n.2315C= | |
| 13 | g.32336670C>G | CA387771427 | BRCA2 | c.2315C>G (p.Thr772Ser) c.1946C>G (p.Thr649Ser) n.2315C>G | ClinVar dbSNP |
| 13 | g.32336670C>T | CA16619669 | BRCA2 | c.2315C>T (p.Thr772Ile) c.1946C>T (p.Thr649Ile) n.2315C>T | ClinVar dbSNP |
| 13 | g.32336671T>A | CA483437127 | BRCA2 | c.2316T>A (p.Thr772=) c.1947T>A (p.Thr649=) n.2316T>A | |
| 13 | g.32336671T>C | CA483437128 | BRCA2 | c.2316T>C (p.Thr772=) c.1947T>C (p.Thr649=) n.2316T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32336671T>G | CA483437129 | BRCA2 | c.2316T>G (p.Thr772=) c.1947T>G (p.Thr649=) n.2316T>G | |
| 13 | g.32336671T= | CA2082751307 | BRCA2 | c.2316T= (p.Thr772=) c.1947T= (p.Thr649=) n.2316T= | |
| 13 | g.32336672C>A | CA387771428 | BRCA2 | c.2317C>A (p.Pro773Thr) c.1948C>A (p.Pro650Thr) n.2317C>A | dbSNP COSMIC COSMIC |
| 13 | g.32336672C>G | CA387771429 | BRCA2 | c.2317C>G (p.Pro773Ala) c.1948C>G (p.Pro650Ala) n.2317C>G | dbSNP |
| 13 | g.32336672C>T | CA387771431 | BRCA2 | c.2317C>T (p.Pro773Ser) c.1948C>T (p.Pro650Ser) n.2317C>T | dbSNP gnomAD v4 |
| 13 | g.32336673C>A | CA387771435 | BRCA2 | c.2318C>A (p.Pro773His) c.1949C>A (p.Pro650His) n.2318C>A | dbSNP |
| 13 | g.32336673C= | CA2082751346 | BRCA2 | c.2318C= (p.Pro773=) c.1949C= (p.Pro650=) n.2318C= | |
| 13 | g.32336673C>G | CA387771436 | BRCA2 | c.2318C>G (p.Pro773Arg) c.1949C>G (p.Pro650Arg) n.2318C>G | dbSNP |
| 13 | g.32336673C>T | CA387771438 | BRCA2 | c.2318C>T (p.Pro773Leu) c.1949C>T (p.Pro650Leu) n.2318C>T | dbSNP |
| 13 | g.32336673_32336674delinsCT | CA2082751313 | BRCA2 | c.2318_2319delinsCT (p.Pro773=) c.1949_1950delinsCT (p.Pro650=) n.2318_2319delinsCT | |
| 13 | g.32336674del | CA6940595 | BRCA2 | c.2319del (p.Thr774LeufsTer9) c.1950del (p.Thr651LeufsTer9) n.2319del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32336674T>A | CA483437136 | BRCA2 | c.2319T>A (p.Pro773=) c.1950T>A (p.Pro650=) n.2319T>A | dbSNP |
| 13 | g.32336674T>C | CA483437135 | BRCA2 | c.2319T>C (p.Pro773=) c.1950T>C (p.Pro650=) n.2319T>C | |
| 13 | g.32336674T>G | CA483437133 | BRCA2 | c.2319T>G (p.Pro773=) c.1950T>G (p.Pro650=) n.2319T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32336674T= | CA2082751366 | BRCA2 | c.2319T= (p.Pro773=) c.1950T= (p.Pro650=) n.2319T= | |
| 13 | g.32336675A= | CA2082751374 | BRCA2 | c.2320A= (p.Thr774=) c.1951A= (p.Thr651=) n.2320A= | |
| 13 | g.32336675A>C | CA387771442 | BRCA2 | c.2320A>C (p.Thr774Pro) c.1951A>C (p.Thr651Pro) n.2320A>C | ClinVar dbSNP |
| 13 | g.32336675A>G | CA014934 | BRCA2 | c.2320A>G (p.Thr774Ala) c.1951A>G (p.Thr651Ala) n.2320A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336675A>T | CA387771441 | BRCA2 | c.2320A>T (p.Thr774Ser) c.1951A>T (p.Thr651Ser) n.2320A>T | dbSNP |
| 13 | g.32336676C>A | CA387771445 | BRCA2 | c.2321C>A (p.Thr774Asn) c.1952C>A (p.Thr651Asn) n.2321C>A | ClinVar dbSNP |
| 13 | g.32336676C= | CA2082751393 | BRCA2 | c.2321C= (p.Thr774=) c.1952C= (p.Thr651=) n.2321C= | |
| 13 | g.32336676C>G | CA387771448 | BRCA2 | c.2321C>G (p.Thr774Ser) c.1952C>G (p.Thr651Ser) n.2321C>G | dbSNP |
| 13 | g.32336676C>T | CA387771456 | BRCA2 | c.2321C>T (p.Thr774Ile) c.1952C>T (p.Thr651Ile) n.2321C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336677T>A | CA483437143 | BRCA2 | c.2322T>A (p.Thr774=) c.1953T>A (p.Thr651=) n.2322T>A | dbSNP |
| 13 | g.32336677T>C | CA483437140 | BRCA2 | c.2322T>C (p.Thr774=) c.1953T>C (p.Thr651=) n.2322T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32336677T>G | CA483437139 | BRCA2 | c.2322T>G (p.Thr774=) c.1953T>G (p.Thr651=) n.2322T>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336677T= | CA2082751401 | BRCA2 | c.2322T= (p.Thr774=) c.1953T= (p.Thr651=) n.2322T= | |
| 13 | g.32336678T>A | CA10586059 | BRCA2 | c.2323T>A (p.Ser775Thr) c.1954T>A (p.Ser652Thr) n.2323T>A | ClinVar dbSNP |
| 13 | g.32336678T>C | CA387771459 | BRCA2 | c.2323T>C (p.Ser775Pro) c.1954T>C (p.Ser652Pro) n.2323T>C | |
| 13 | g.32336678T>G | CA387771462 | BRCA2 | c.2323T>G (p.Ser775Ala) c.1954T>G (p.Ser652Ala) n.2323T>G | |
| 13 | g.32336678T= | CA2082751420 | BRCA2 | c.2323T= (p.Ser775=) c.1954T= (p.Ser652=) n.2323T= | |
| 13 | g.32336678_32336679delinsTC | CA2082751408 | BRCA2 | c.2323_2324delinsTC (p.Ser775=) c.1954_1955delinsTC (p.Ser652=) n.2323_2324delinsTC | |
| 13 | g.32336679C>A | CA387771485 | BRCA2 | c.2324C>A (p.Ser775Tyr) c.1955C>A (p.Ser652Tyr) n.2324C>A | ClinVar dbSNP |
| 13 | g.32336679C= | CA2082751436 | BRCA2 | c.2324C= (p.Ser775=) c.1955C= (p.Ser652=) n.2324C= | |
| 13 | g.32336679C>G | CA387771467 | BRCA2 | c.2324C>G (p.Ser775Cys) c.1955C>G (p.Ser652Cys) n.2324C>G | dbSNP |
| 13 | g.32336679C>T | CA014938 | BRCA2 | c.2324C>T (p.Ser775Phe) c.1955C>T (p.Ser652Phe) n.2324C>T | ClinVar dbSNP |
| 13 | g.32336680del | CA014948 | BRCA2 | c.2325del (p.Lys776ArgfsTer7) c.1956del (p.Lys653ArgfsTer7) n.2325del | ClinVar dbSNP |
| 13 | g.32336680C>A | CA483437149 | BRCA2 | c.2325C>A (p.Ser775=) c.1956C>A (p.Ser652=) n.2325C>A | dbSNP |
| 13 | g.32336680C= | CA2082751454 | BRCA2 | c.2325C= (p.Ser775=) c.1956C= (p.Ser652=) n.2325C= | |
| 13 | g.32336680C>G | CA483437153 | BRCA2 | c.2325C>G (p.Ser775=) c.1956C>G (p.Ser652=) n.2325C>G | dbSNP |
| 13 | g.32336680C>T | CA483437154 | BRCA2 | c.2325C>T (p.Ser775=) c.1956C>T (p.Ser652=) n.2325C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336680_32336681delinsCA | CA2082751457 | BRCA2 | c.2325_2326delinsCA (p.Ser775=) c.1956_1957delinsCA (p.Ser652=) n.2325_2326delinsCA | |
| 13 | g.32336681A>C | CA387771489 | BRCA2 | c.2326A>C (p.Lys776Gln) c.1957A>C (p.Lys653Gln) n.2326A>C | gnomAD v4 |
| 13 | g.32336681A>G | CA387771490 | BRCA2 | c.2326A>G (p.Lys776Glu) c.1957A>G (p.Lys653Glu) n.2326A>G | dbSNP |
| 13 | g.32336681A>T | CA387771491 | BRCA2 | c.2326A>T (p.Lys776Ter) c.1957A>T (p.Lys653Ter) n.2326A>T | dbSNP |
| 13 | g.32336682del | CA915946985 | BRCA2 | c.2327del (p.Lys776ArgfsTer7) c.1958del (p.Lys653ArgfsTer7) n.2327del | ClinVar dbSNP |
| 13 | g.32336682A= | CA2082751477 | BRCA2 | c.2327A= (p.Lys776=) c.1958A= (p.Lys653=) n.2327A= | |
| 13 | g.32336682A>C | CA387771492 | BRCA2 | c.2327A>C (p.Lys776Thr) c.1958A>C (p.Lys653Thr) n.2327A>C | |
| 13 | g.32336682A>G | CA10579533 | BRCA2 | c.2327A>G (p.Lys776Arg) c.1958A>G (p.Lys653Arg) n.2327A>G | ClinVar dbSNP |
| 13 | g.32336682A>T | CA387771496 | BRCA2 | c.2327A>T (p.Lys776Met) c.1958A>T (p.Lys653Met) n.2327A>T | dbSNP |
| 13 | g.32336683G>A | CA483437158 | BRCA2 | c.2328G>A (p.Lys776=) c.1959G>A (p.Lys653=) n.2328G>A | ClinVar dbSNP |
| 13 | g.32336683G>C | CA387771503 | BRCA2 | c.2328G>C (p.Lys776Asn) c.1959G>C (p.Lys653Asn) n.2328G>C | dbSNP |
| 13 | g.32336683G= | CA2082751487 | BRCA2 | c.2328G= (p.Lys776=) c.1959G= (p.Lys653=) n.2328G= | |
| 13 | g.32336683G>T | CA387771507 | BRCA2 | c.2328G>T (p.Lys776Asn) c.1959G>T (p.Lys653Asn) n.2328G>T | dbSNP |
| 13 | g.32336684G>A | CA387771511 | BRCA2 | c.2329G>A (p.Asp777Asn) c.1960G>A (p.Asp654Asn) n.2329G>A | ClinVar dbSNP |
| 13 | g.32336684G>C | CA387771513 | BRCA2 | c.2329G>C (p.Asp777His) c.1960G>C (p.Asp654His) n.2329G>C | dbSNP |
| 13 | g.32336684G= | CA2082751501 | BRCA2 | c.2329G= (p.Asp777=) c.1960G= (p.Asp654=) n.2329G= | |
| 13 | g.32336684G>T | CA387771525 | BRCA2 | c.2329G>T (p.Asp777Tyr) c.1960G>T (p.Asp654Tyr) n.2329G>T | ClinVar dbSNP |
| 13 | g.32336685A= | CA2082751523 | BRCA2 | c.2330A= (p.Asp777=) c.1961A= (p.Asp654=) n.2330A= | |
| 13 | g.32336685A>C | CA387771528 | BRCA2 | c.2330A>C (p.Asp777Ala) c.1961A>C (p.Asp654Ala) n.2330A>C | |
| 13 | g.32336685A>G | CA014974 | BRCA2 | c.2330A>G (p.Asp777Gly) c.1961A>G (p.Asp654Gly) n.2330A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32336685A>T | CA387771534 | BRCA2 | c.2330A>T (p.Asp777Val) c.1961A>T (p.Asp654Val) n.2330A>T | ClinVar dbSNP |
| 13 | g.32336685dup | CA014965 | BRCA2 | c.2330dup (p.Asp777GlufsTer11) c.1961dup (p.Asp654GlufsTer11) n.2330dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32336686T>A | CA387771537 | BRCA2 | c.2331T>A (p.Asp777Glu) c.1962T>A (p.Asp654Glu) n.2331T>A | dbSNP |
| 13 | g.32336686T>C | CA483437166 | BRCA2 | c.2331T>C (p.Asp777=) c.1962T>C (p.Asp654=) n.2331T>C | dbSNP |
| 13 | g.32336686T>G | CA387771538 | BRCA2 | c.2331T>G (p.Asp777Glu) c.1962T>G (p.Asp654Glu) n.2331T>G | dbSNP |
| 13 | g.32336687G>A | CA014983 | BRCA2 | c.2332G>A (p.Val778Ile) c.1963G>A (p.Val655Ile) n.2332G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32336687G>C | CA387771543 | BRCA2 | c.2332G>C (p.Val778Leu) c.1963G>C (p.Val655Leu) n.2332G>C | ClinVar dbSNP |
| 13 | g.32336687G= | CA2082751534 | BRCA2 | c.2332G= (p.Val778=) c.1963G= (p.Val655=) n.2332G= | |
| 13 | g.32336687G>T | CA387771547 | BRCA2 | c.2332G>T (p.Val778Phe) c.1963G>T (p.Val655Phe) n.2332G>T | |
| 13 | g.32336688T>A | CA387771549 | BRCA2 | c.2333T>A (p.Val778Asp) c.1964T>A (p.Val655Asp) n.2333T>A | ClinVar dbSNP |
| 13 | g.32336688T>C | CA16619670 | BRCA2 | c.2333T>C (p.Val778Ala) c.1964T>C (p.Val655Ala) n.2333T>C | ClinVar dbSNP |
| 13 | g.32336688T>G | CA387771548 | BRCA2 | c.2333T>G (p.Val778Gly) c.1964T>G (p.Val655Gly) n.2333T>G | dbSNP |
| 13 | g.32336688T= | CA2082751540 | BRCA2 | c.2333T= (p.Val778=) c.1964T= (p.Val655=) n.2333T= | |
| 13 | g.32336689del | CA2798719123 | BRCA2 | c.2334del (p.Leu779CysfsTer4) c.1965del (p.Leu656CysfsTer4) n.2334del | |
| 13 | g.32336688_32336691dup | CA2695218000 | BRCA2 | c.2333_2336dup (p.Asn781ValfsTer8) c.1964_1967dup (p.Asn658ValfsTer8) n.2333_2336dup | |
| 13 | g.32336689T>A | CA483437170 | BRCA2 | c.2334T>A (p.Val778=) c.1965T>A (p.Val655=) n.2334T>A | ClinVar dbSNP |
| 13 | g.32336689T>C | CA483437171 | BRCA2 | c.2334T>C (p.Val778=) c.1965T>C (p.Val655=) n.2334T>C | dbSNP |
| 13 | g.32336689T>G | CA483437172 | BRCA2 | c.2334T>G (p.Val778=) c.1965T>G (p.Val655=) n.2334T>G | |
| 13 | g.32336690C>A | CA387771550 | BRCA2 | c.2335C>A (p.Leu779Met) c.1966C>A (p.Leu656Met) n.2335C>A | dbSNP |
| 13 | g.32336690C= | CA2082751551 | BRCA2 | c.2335C= (p.Leu779=) c.1966C= (p.Leu656=) n.2335C= | |
| 13 | g.32336690C>G | CA247501992 | BRCA2 | c.2335C>G (p.Leu779Val) c.1966C>G (p.Leu656Val) n.2335C>G | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32336690C>T | CA483437173 | BRCA2 | c.2335C>T (p.Leu779=) c.1966C>T (p.Leu656=) n.2335C>T | dbSNP |
| 13 | g.32336690_32336691delinsCT | CA2082751556 | BRCA2 | c.2335_2336delinsCT (p.Leu779=) c.1966_1967delinsCT (p.Leu656=) n.2335_2336delinsCT | |
| 13 | g.32336691del | CA16619671 | BRCA2 | c.2336del (p.Leu779ArgfsTer4) c.1967del (p.Leu656ArgfsTer4) n.2336del | ClinVar dbSNP |
| 13 | g.32336691T>A | CA387771552 | BRCA2 | c.2336T>A (p.Leu779Gln) c.1967T>A (p.Leu656Gln) n.2336T>A | dbSNP |
| 13 | g.32336691T>C | CA387771555 | BRCA2 | c.2336T>C (p.Leu779Pro) c.1967T>C (p.Leu656Pro) n.2336T>C | |
| 13 | g.32336691T>G | CA387771558 | BRCA2 | c.2336T>G (p.Leu779Arg) c.1967T>G (p.Leu656Arg) n.2336T>G | gnomAD v4 |
| 13 | g.32336692G>A | CA483437175 | BRCA2 | c.2337G>A (p.Leu779=) c.1968G>A (p.Leu656=) n.2337G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32336692G>C | CA483437174 | BRCA2 | c.2337G>C (p.Leu779=) c.1968G>C (p.Leu656=) n.2337G>C | ClinVar dbSNP |
| 13 | g.32336692G= | CA2082751569 | BRCA2 | c.2337G= (p.Leu779=) c.1968G= (p.Leu656=) n.2337G= | |
| 13 | g.32336692G>T | CA014991 | BRCA2 | c.2337G>T (p.Leu779=) c.1968G>T (p.Leu656=) n.2337G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336693T>A | CA387771570 | BRCA2 | c.2338T>A (p.Ser780Thr) c.1969T>A (p.Ser657Thr) n.2338T>A | dbSNP |
| 13 | g.32336693T>C | CA387771567 | BRCA2 | c.2338T>C (p.Ser780Pro) c.1969T>C (p.Ser657Pro) n.2338T>C | dbSNP |
| 13 | g.32336693T>G | CA387771565 | BRCA2 | c.2338T>G (p.Ser780Ala) c.1969T>G (p.Ser657Ala) n.2338T>G | dbSNP |
| 13 | g.32336694C>A | CA387771573 | BRCA2 | c.2339C>A (p.Ser780Ter) c.1970C>A (p.Ser657Ter) n.2339C>A | dbSNP |
| 13 | g.32336694C= | CA2082751579 | BRCA2 | c.2339C= (p.Ser780=) c.1970C= (p.Ser657=) n.2339C= | |
| 13 | g.32336694C>G | CA014999 | BRCA2 | c.2339C>G (p.Ser780Ter) c.1970C>G (p.Ser657Ter) n.2339C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32336694C>T | CA387771576 | BRCA2 | c.2339C>T (p.Ser780Leu) c.1970C>T (p.Ser657Leu) n.2339C>T | dbSNP |
| 13 | g.32336694_32336707del | CA2573149376 | BRCA2 | c.2339_2352del (p.Ser780TyrfsTer3) c.1970_1983del (p.Ser657TyrfsTer3) n.2339_2352del | ClinVar dbSNP |
| 13 | g.32336695A>C | CA483437176 | BRCA2 | c.2340A>C (p.Ser780=) c.1971A>C (p.Ser657=) n.2340A>C | |
| 13 | g.32336695A>G | CA483437178 | BRCA2 | c.2340A>G (p.Ser780=) c.1971A>G (p.Ser657=) n.2340A>G | dbSNP |
| 13 | g.32336695A>T | CA483437179 | BRCA2 | c.2340A>T (p.Ser780=) c.1971A>T (p.Ser657=) n.2340A>T | dbSNP |
| 13 | g.32336696A= | CA2082751587 | BRCA2 | c.2341A= (p.Asn781=) c.1972A= (p.Asn658=) n.2341A= | |
| 13 | g.32336696A>C | CA015005 | BRCA2 | c.2341A>C (p.Asn781His) c.1972A>C (p.Asn658His) n.2341A>C | ClinVar dbSNP |
| 13 | g.32336696A>G | CA387771581 | BRCA2 | c.2341A>G (p.Asn781Asp) c.1972A>G (p.Asn658Asp) n.2341A>G | ClinVar dbSNP |
| 13 | g.32336696A>T | CA387771584 | BRCA2 | c.2341A>T (p.Asn781Tyr) c.1972A>T (p.Asn658Tyr) n.2341A>T | dbSNP |
| 13 | g.32336697A>C | CA387771597 | BRCA2 | c.2342A>C (p.Asn781Thr) c.1973A>C (p.Asn658Thr) n.2342A>C | dbSNP |
| 13 | g.32336697A>G | CA387771591 | BRCA2 | c.2342A>G (p.Asn781Ser) c.1973A>G (p.Asn658Ser) n.2342A>G | |
| 13 | g.32336697A>T | CA387771594 | BRCA2 | c.2342A>T (p.Asn781Ile) c.1973A>T (p.Asn658Ile) n.2342A>T | dbSNP |
| 13 | g.32336698C>A | CA10579534 | BRCA2 | c.2343C>A (p.Asn781Lys) c.1974C>A (p.Asn658Lys) n.2343C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32336698C= | CA2082751604 | BRCA2 | c.2343C= (p.Asn781=) c.1974C= (p.Asn658=) n.2343C= | |
| 13 | g.32336698C>G | CA387771605 | BRCA2 | c.2343C>G (p.Asn781Lys) c.1974C>G (p.Asn658Lys) n.2343C>G | dbSNP |
| 13 | g.32336698C>T | CA483437184 | BRCA2 | c.2343C>T (p.Asn781=) c.1974C>T (p.Asn658=) n.2343C>T | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32336699C>A | CA387771609 | BRCA2 | c.2344C>A (p.Leu782Ile) c.1975C>A (p.Leu659Ile) n.2344C>A | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32336699C= | CA2082751618 | BRCA2 | c.2344C= (p.Leu782=) c.1975C= (p.Leu659=) n.2344C= | |
| 13 | g.32336699C>G | CA6940596 | BRCA2 | c.2344C>G (p.Leu782Val) c.1975C>G (p.Leu659Val) n.2344C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32336699C>T | CA483437185 | BRCA2 | c.2344C>T (p.Leu782=) c.1975C>T (p.Leu659=) n.2344C>T | ClinVar dbSNP |