| 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.32336591G>A | CA387770804 | BRCA2 | c.2236G>A (p.Val746Met) c.1867G>A (p.Val623Met) n.2236G>A | dbSNP |
| 13 | g.32336591G>C | CA387770803 | BRCA2 | c.2236G>C (p.Val746Leu) c.1867G>C (p.Val623Leu) n.2236G>C | dbSNP |
| 13 | g.32336591G>T | CA387770801 | BRCA2 | c.2236G>T (p.Val746Leu) c.1867G>T (p.Val623Leu) n.2236G>T | dbSNP |
| 13 | g.32336592T>A | CA387770805 | BRCA2 | c.2237T>A (p.Val746Glu) c.1868T>A (p.Val623Glu) n.2237T>A | |
| 13 | g.32336592T>C | CA387770806 | BRCA2 | c.2237T>C (p.Val746Ala) c.1868T>C (p.Val623Ala) n.2237T>C | ClinVar |
| 13 | g.32336592T>G | CA387770807 | BRCA2 | c.2237T>G (p.Val746Gly) c.1868T>G (p.Val623Gly) n.2237T>G | |
| 13 | g.32336593G>A | CA483436954 | BRCA2 | c.2238G>A (p.Val746=) c.1869G>A (p.Val623=) n.2238G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336593G>C | CA483436955 | BRCA2 | c.2238G>C (p.Val746=) c.1869G>C (p.Val623=) n.2238G>C | |
| 13 | g.32336593G= | CA2082750469 | BRCA2 | c.2238G= (p.Val746=) c.1869G= (p.Val623=) n.2238G= | |
| 13 | g.32336593G>T | CA483436957 | BRCA2 | c.2238G>T (p.Val746=) c.1869G>T (p.Val623=) n.2238G>T | |
| 13 | g.32336594G>A | CA16607460 | BRCA2 | c.2239G>A (p.Glu747Lys) c.1870G>A (p.Glu624Lys) n.2239G>A | ClinVar dbSNP |
| 13 | g.32336594G>C | CA387770810 | BRCA2 | c.2239G>C (p.Glu747Gln) c.1870G>C (p.Glu624Gln) n.2239G>C | ClinVar dbSNP |
| 13 | g.32336594G= | CA2082750478 | BRCA2 | c.2239G= (p.Glu747=) c.1870G= (p.Glu624=) n.2239G= | |
| 13 | g.32336594G>T | CA10583079 | BRCA2 | c.2239G>T (p.Glu747Ter) c.1870G>T (p.Glu624Ter) n.2239G>T | ClinVar dbSNP |
| 13 | g.32336595A= | CA2082750497 | BRCA2 | c.2240A= (p.Glu747=) c.1871A= (p.Glu624=) n.2240A= | |
| 13 | g.32336595A>C | CA387770814 | BRCA2 | c.2240A>C (p.Glu747Ala) c.1871A>C (p.Glu624Ala) n.2240A>C | ClinVar dbSNP |
| 13 | g.32336595A>G | CA014722 | BRCA2 | c.2240A>G (p.Glu747Gly) c.1871A>G (p.Glu624Gly) n.2240A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32336595A>T | CA387770817 | BRCA2 | c.2240A>T (p.Glu747Val) c.1871A>T (p.Glu624Val) n.2240A>T | dbSNP |
| 13 | g.32336596A= | CA2082750509 | BRCA2 | c.2241A= (p.Glu747=) c.1872A= (p.Glu624=) n.2241A= | |
| 13 | g.32336596A>C | CA387770823 | BRCA2 | c.2241A>C (p.Glu747Asp) c.1872A>C (p.Glu624Asp) n.2241A>C | |
| 13 | g.32336596A>G | CA16613856 | BRCA2 | c.2241A>G (p.Glu747=) c.1872A>G (p.Glu624=) n.2241A>G | ClinVar dbSNP gnomAD v4 |
| 13 | g.32336596A>T | CA387770825 | BRCA2 | c.2241A>T (p.Glu747Asp) c.1872A>T (p.Glu624Asp) n.2241A>T | dbSNP |
| 13 | g.32336597T>A | CA387770831 | BRCA2 | c.2242T>A (p.Tyr748Asn) c.1873T>A (p.Tyr625Asn) n.2242T>A | dbSNP |
| 13 | g.32336597T>C | CA387770833 | BRCA2 | c.2242T>C (p.Tyr748His) c.1873T>C (p.Tyr625His) n.2242T>C | dbSNP |
| 13 | g.32336597T>G | CA387770837 | BRCA2 | c.2242T>G (p.Tyr748Asp) c.1873T>G (p.Tyr625Asp) n.2242T>G | dbSNP |
| 13 | g.32336597_32336599delinsTAC | CA2082750514 | BRCA2 | c.2242_2244delinsTAC (p.Tyr748=) c.1873_1875delinsTAC (p.Tyr625=) n.2242_2244delinsTAC | |
| 13 | g.32336598A>C | CA387770840 | BRCA2 | c.2243A>C (p.Tyr748Ser) c.1874A>C (p.Tyr625Ser) n.2243A>C | dbSNP |
| 13 | g.32336598A>G | CA387770842 | BRCA2 | c.2243A>G (p.Tyr748Cys) c.1874A>G (p.Tyr625Cys) n.2243A>G | ClinVar dbSNP |
| 13 | g.32336598A>T | CA387770845 | BRCA2 | c.2243A>T (p.Tyr748Phe) c.1874A>T (p.Tyr625Phe) n.2243A>T | dbSNP |
| 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 |