Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32338197_32338391del | CA2580618074 | BRCA2 | c.3842_4036del (p.Lys1281_Asp1345del) c.3473_3667del (p.Lys1158_Asp1222del) n.3842_4036del | |
13 | g.32338327_32338328del | CA10589234 | BRCA2 | c.3972_3973del (p.Thr1325CysfsTer4) c.3603_3604del (p.Thr1202CysfsTer4) n.3972_3973del | ClinVar dbSNP |
13 | g.32338326_32338330delinsATACT | CA2082822578 | BRCA2 | c.3971_3975delinsATACT (p.Tyr1324=) c.3602_3606delinsATACT (p.Tyr1201=) n.3971_3975delinsATACT | |
13 | g.32338327T>A | CA387778936 | BRCA2 | c.3972T>A (p.Tyr1324Ter) c.3603T>A (p.Tyr1201Ter) n.3972T>A | dbSNP gnomAD v4 |
13 | g.32338327T>C | CA483437973 | BRCA2 | c.3972T>C (p.Tyr1324=) c.3603T>C (p.Tyr1201=) n.3972T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32338327T>G | CA387778937 | BRCA2 | c.3972T>G (p.Tyr1324Ter) c.3603T>G (p.Tyr1201Ter) n.3972T>G | ClinVar dbSNP |
13 | g.32338327T= | CA2082822600 | BRCA2 | c.3972T= (p.Tyr1324=) c.3603T= (p.Tyr1201=) n.3972T= | |
13 | g.32338327_32338330del | CA10589235 | BRCA2 | c.3972_3975del (p.Tyr1324Ter) c.3603_3606del (p.Tyr1201Ter) n.3972_3975del | ClinVar dbSNP |
13 | g.32338328A>C | CA387778939 | BRCA2 | c.3973A>C (p.Thr1325Pro) c.3604A>C (p.Thr1202Pro) n.3973A>C | dbSNP |
13 | g.32338328A>G | CA387778940 | BRCA2 | c.3973A>G (p.Thr1325Ala) c.3604A>G (p.Thr1202Ala) n.3973A>G | ClinVar |
13 | g.32338328A>T | CA387778938 | BRCA2 | c.3973A>T (p.Thr1325Ser) c.3604A>T (p.Thr1202Ser) n.3973A>T | dbSNP |
13 | g.32338329C>A | CA387778942 | BRCA2 | c.3974C>A (p.Thr1325Asn) c.3605C>A (p.Thr1202Asn) n.3974C>A | |
13 | g.32338329C= | CA2082822617 | BRCA2 | c.3974C= (p.Thr1325=) c.3605C= (p.Thr1202=) n.3974C= | |
13 | g.32338329C>G | CA387778941 | BRCA2 | c.3974C>G (p.Thr1325Ser) c.3605C>G (p.Thr1202Ser) n.3974C>G | ClinVar dbSNP |
13 | g.32338329C>T | CA387778943 | BRCA2 | c.3974C>T (p.Thr1325Ile) c.3605C>T (p.Thr1202Ile) n.3974C>T | ClinVar dbSNP |
13 | g.32338330T>A | CA483437978 | BRCA2 | c.3975T>A (p.Thr1325=) c.3606T>A (p.Thr1202=) n.3975T>A | ClinVar dbSNP gnomAD v4 |
13 | g.32338330T>C | CA16606681 | BRCA2 | c.3975T>C (p.Thr1325=) c.3606T>C (p.Thr1202=) n.3975T>C | ClinVar dbSNP |
13 | g.32338330T>G | CA483437977 | BRCA2 | c.3975T>G (p.Thr1325=) c.3606T>G (p.Thr1202=) n.3975T>G | |
13 | g.32338330T= | CA2082822624 | BRCA2 | c.3975T= (p.Thr1325=) c.3606T= (p.Thr1202=) n.3975T= | |
13 | g.32338330_32338333dup | CA019317 | BRCA2 | c.3975_3978dup (p.Ala1327CysfsTer4) c.3606_3609dup (p.Ala1204CysfsTer4) n.3975_3978dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338331G>A | CA387778944 | BRCA2 | c.3976G>A (p.Ala1326Thr) c.3607G>A (p.Ala1203Thr) n.3976G>A | dbSNP |
13 | g.32338331G>C | CA387778945 | BRCA2 | c.3976G>C (p.Ala1326Pro) c.3607G>C (p.Ala1203Pro) n.3976G>C | dbSNP |
13 | g.32338331G>T | CA387778946 | BRCA2 | c.3976G>T (p.Ala1326Ser) c.3607G>T (p.Ala1203Ser) n.3976G>T | dbSNP |
13 | g.32338332C>A | CA387778947 | BRCA2 | c.3977C>A (p.Ala1326Asp) c.3608C>A (p.Ala1203Asp) n.3977C>A | dbSNP |
13 | g.32338332C>G | CA387778948 | BRCA2 | c.3977C>G (p.Ala1326Gly) c.3608C>G (p.Ala1203Gly) n.3977C>G | dbSNP |
13 | g.32338332C>T | CA387778949 | BRCA2 | c.3977C>T (p.Ala1326Val) c.3608C>T (p.Ala1203Val) n.3977C>T | dbSNP |
13 | g.32338333T>A | CA483437981 | BRCA2 | c.3978T>A (p.Ala1326=) c.3609T>A (p.Ala1203=) n.3978T>A | dbSNP |
13 | g.32338333T>C | CA483437982 | BRCA2 | c.3978T>C (p.Ala1326=) c.3609T>C (p.Ala1203=) n.3978T>C | ClinVar gnomAD v4 |
13 | g.32338333T>G | CA483437983 | BRCA2 | c.3978T>G (p.Ala1326=) c.3609T>G (p.Ala1203=) n.3978T>G | dbSNP |
13 | g.32338333T= | CA2082822638 | BRCA2 | c.3978T= (p.Ala1326=) c.3609T= (p.Ala1203=) n.3978T= | |
13 | g.32338333_32338334insTTGC | CA10589236 | BRCA2 | c.3978_3979insTTGC (p.Ala1327LeufsTer4) c.3609_3610insTTGC (p.Ala1204LeufsTer4) n.3978_3979insTTGC | ClinVar dbSNP |
13 | g.32338334G>A | CA387778950 | BRCA2 | c.3979G>A (p.Ala1327Thr) c.3610G>A (p.Ala1204Thr) n.3979G>A | |
13 | g.32338334G>C | CA387778951 | BRCA2 | c.3979G>C (p.Ala1327Pro) c.3610G>C (p.Ala1204Pro) n.3979G>C | |
13 | g.32338334G= | CA2082822643 | BRCA2 | c.3979G= (p.Ala1327=) c.3610G= (p.Ala1204=) n.3979G= | |
13 | g.32338334G>T | CA387778952 | BRCA2 | c.3979G>T (p.Ala1327Ser) c.3610G>T (p.Ala1204Ser) n.3979G>T | ClinVar dbSNP |
13 | g.32338335C>A | CA387778955 | BRCA2 | c.3980C>A (p.Ala1327Asp) c.3611C>A (p.Ala1204Asp) n.3980C>A | dbSNP |
13 | g.32338335C>G | CA387778953 | BRCA2 | c.3980C>G (p.Ala1327Gly) c.3611C>G (p.Ala1204Gly) n.3980C>G | dbSNP |
13 | g.32338335C>T | CA387778954 | BRCA2 | c.3980C>T (p.Ala1327Val) c.3611C>T (p.Ala1204Val) n.3980C>T | dbSNP |
13 | g.32338336C>A | CA483437985 | BRCA2 | c.3981C>A (p.Ala1327=) c.3612C>A (p.Ala1204=) n.3981C>A | ClinVar dbSNP |
13 | g.32338336C= | CA2082822647 | BRCA2 | c.3981C= (p.Ala1327=) c.3612C= (p.Ala1204=) n.3981C= | |
13 | g.32338336C>G | CA483437986 | BRCA2 | c.3981C>G (p.Ala1327=) c.3612C>G (p.Ala1204=) n.3981C>G | dbSNP |
13 | g.32338336C>T | CA483437987 | BRCA2 | c.3981C>T (p.Ala1327=) c.3612C>T (p.Ala1204=) n.3981C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32338337A= | CA2082822656 | BRCA2 | c.3982A= (p.Ser1328=) c.3613A= (p.Ser1205=) n.3982A= | |
13 | g.32338337A>C | CA387778956 | BRCA2 | c.3982A>C (p.Ser1328Arg) c.3613A>C (p.Ser1205Arg) n.3982A>C | |
13 | g.32338337A>G | CA387778957 | BRCA2 | c.3982A>G (p.Ser1328Gly) c.3613A>G (p.Ser1205Gly) n.3982A>G | ClinVar dbSNP |
13 | g.32338337A>T | CA387778958 | BRCA2 | c.3982A>T (p.Ser1328Cys) c.3613A>T (p.Ser1205Cys) n.3982A>T | ClinVar dbSNP |
13 | g.32338338G>A | CA6940737 | BRCA2 | c.3983G>A (p.Ser1328Asn) c.3614G>A (p.Ser1205Asn) n.3983G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338338G>C | CA10579597 | BRCA2 | c.3983G>C (p.Ser1328Thr) c.3614G>C (p.Ser1205Thr) n.3983G>C | ClinVar dbSNP gnomAD v4 |
13 | g.32338338G= | CA2082822663 | BRCA2 | c.3983G= (p.Ser1328=) c.3614G= (p.Ser1205=) n.3983G= | |
13 | g.32338338G>T | CA387778959 | BRCA2 | c.3983G>T (p.Ser1328Ile) c.3614G>T (p.Ser1205Ile) n.3983G>T |