Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32338801_32338806dup | CA337572 | BRCA2 | c.4446_4451dup (p.Thr1483_Asp1484insGluThr) c.4077_4082dup (p.Thr1360_Asp1361insGluThr) n.4446_4451dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32338803_32338804del | CA891844228 | BRCA2 | c.4448_4449del (p.Thr1483ArgfsTer4) c.4079_4080del (p.Thr1360ArgfsTer4) n.4448_4449del | ClinVar dbSNP |
13 | g.32338803_32338804delinsCA | CA2082812094 | BRCA2 | c.4448_4449delinsCA (p.Thr1483=) c.4079_4080delinsCA (p.Thr1360=) n.4448_4449delinsCA | |
13 | g.32338804del | CA020195 | BRCA2 | c.4449del (p.Asp1484ThrfsTer2) c.4080del (p.Asp1361ThrfsTer2) n.4449del | ClinVar dbSNP gnomAD v4 |
13 | g.32338804A>C | CA483437805 | BRCA2 | c.4449A>C (p.Thr1483=) c.4080A>C (p.Thr1360=) n.4449A>C | dbSNP |
13 | g.32338804A>G | CA483437806 | BRCA2 | c.4449A>G (p.Thr1483=) c.4080A>G (p.Thr1360=) n.4449A>G | ClinVar dbSNP |
13 | g.32338804A>T | CA483437807 | BRCA2 | c.4449A>T (p.Thr1483=) c.4080A>T (p.Thr1360=) n.4449A>T | |
13 | g.32338805G>A | CA10579617 | BRCA2 | c.4450G>A (p.Asp1484Asn) c.4081G>A (p.Asp1361Asn) n.4450G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338805G>C | CA387781370 | BRCA2 | c.4450G>C (p.Asp1484His) c.4081G>C (p.Asp1361His) n.4450G>C | dbSNP |
13 | g.32338805G= | CA2082812101 | BRCA2 | c.4450G= (p.Asp1484=) c.4081G= (p.Asp1361=) n.4450G= | |
13 | g.32338805G>T | CA387781371 | BRCA2 | c.4450G>T (p.Asp1484Tyr) c.4081G>T (p.Asp1361Tyr) n.4450G>T | dbSNP |
13 | g.32338806A= | CA2082812122 | BRCA2 | c.4451A= (p.Asp1484=) c.4082A= (p.Asp1361=) n.4451A= | |
13 | g.32338806A>C | CA387781372 | BRCA2 | c.4451A>C (p.Asp1484Ala) c.4082A>C (p.Asp1361Ala) n.4451A>C | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32338806A>G | CA387781373 | BRCA2 | c.4451A>G (p.Asp1484Gly) c.4082A>G (p.Asp1361Gly) n.4451A>G | ClinVar dbSNP |
13 | g.32338806A>T | CA387781374 | BRCA2 | c.4451A>T (p.Asp1484Val) c.4082A>T (p.Asp1361Val) n.4451A>T | dbSNP |
13 | g.32338807C>A | CA387781375 | BRCA2 | c.4452C>A (p.Asp1484Glu) c.4083C>A (p.Asp1361Glu) n.4452C>A | ClinVar dbSNP |
13 | g.32338807C= | CA2082812136 | BRCA2 | c.4452C= (p.Asp1484=) c.4083C= (p.Asp1361=) n.4452C= | |
13 | g.32338807C>G | CA387781376 | BRCA2 | c.4452C>G (p.Asp1484Glu) c.4083C>G (p.Asp1361Glu) n.4452C>G | dbSNP |
13 | g.32338807C>T | CA483437808 | BRCA2 | c.4452C>T (p.Asp1484=) c.4083C>T (p.Asp1361=) n.4452C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32338808A= | CA2082812153 | BRCA2 | c.4453A= (p.Ile1485=) c.4084A= (p.Ile1362=) n.4453A= | |
13 | g.32338808A>C | CA387781378 | BRCA2 | c.4453A>C (p.Ile1485Leu) c.4084A>C (p.Ile1362Leu) n.4453A>C | |
13 | g.32338808A>G | CA387781381 | BRCA2 | c.4453A>G (p.Ile1485Val) c.4084A>G (p.Ile1362Val) n.4453A>G | ClinVar dbSNP |
13 | g.32338808A>T | CA387781379 | BRCA2 | c.4453A>T (p.Ile1485Leu) c.4084A>T (p.Ile1362Leu) n.4453A>T | ClinVar dbSNP |
13 | g.32338809_32338810del | CA2499222166 | BRCA2 | c.4454_4455del (p.Ile1485SerfsTer2) c.4085_4086del (p.Ile1362SerfsTer2) n.4454_4455del | ClinVar dbSNP |
13 | g.32338808_32338812delinsATAGT | CA2082812152 | BRCA2 | c.4453_4457delinsATAGT (p.Ile1485=) c.4084_4088delinsATAGT (p.Ile1362=) n.4453_4457delinsATAGT | |
13 | g.32338809T>A | CA387781384 | BRCA2 | c.4454T>A (p.Ile1485Lys) c.4085T>A (p.Ile1362Lys) n.4454T>A | ClinVar dbSNP |
13 | g.32338809T>C | CA387781385 | BRCA2 | c.4454T>C (p.Ile1485Thr) c.4085T>C (p.Ile1362Thr) n.4454T>C | |
13 | g.32338809T>G | CA387781386 | BRCA2 | c.4454T>G (p.Ile1485Arg) c.4085T>G (p.Ile1362Arg) n.4454T>G | ClinVar dbSNP |
13 | g.32338809T= | CA2082812168 | BRCA2 | c.4454T= (p.Ile1485=) c.4085T= (p.Ile1362=) n.4454T= | |
13 | g.32338811_32338814del | CA020201 | BRCA2 | c.4456_4459del (p.Val1486AsnfsTer5) c.4087_4090del (p.Val1363AsnfsTer5) n.4456_4459del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32338810A= | CA2082812177 | BRCA2 | c.4455A= (p.Ile1485=) c.4086A= (p.Ile1362=) n.4455A= | |
13 | g.32338810A>C | CA483437809 | BRCA2 | c.4455A>C (p.Ile1485=) c.4086A>C (p.Ile1362=) n.4455A>C | |
13 | g.32338810A>G | CA387781390 | BRCA2 | c.4455A>G (p.Ile1485Met) c.4086A>G (p.Ile1362Met) n.4455A>G | ClinVar dbSNP |
13 | g.32338810A>T | CA483437810 | BRCA2 | c.4455A>T (p.Ile1485=) c.4086A>T (p.Ile1362=) n.4455A>T | ClinVar dbSNP |
13 | g.32338811G>A | CA387781391 | BRCA2 | c.4456G>A (p.Val1486Ile) c.4087G>A (p.Val1363Ile) n.4456G>A | |
13 | g.32338811G>C | CA387781393 | BRCA2 | c.4456G>C (p.Val1486Leu) c.4087G>C (p.Val1363Leu) n.4456G>C | |
13 | g.32338811G>T | CA387781395 | BRCA2 | c.4456G>T (p.Val1486Phe) c.4087G>T (p.Val1363Phe) n.4456G>T | |
13 | g.32338811_32338812delinsGT | CA2082812183 | BRCA2 | c.4456_4457delinsGT (p.Val1486=) c.4087_4088delinsGT (p.Val1363=) n.4456_4457delinsGT | |
13 | g.32338812T>A | CA387781398 | BRCA2 | c.4457T>A (p.Val1486Asp) c.4088T>A (p.Val1363Asp) n.4457T>A | dbSNP |
13 | g.32338812T>C | CA387781399 | BRCA2 | c.4457T>C (p.Val1486Ala) c.4088T>C (p.Val1363Ala) n.4457T>C | dbSNP |
13 | g.32338812T>G | CA387781396 | BRCA2 | c.4457T>G (p.Val1486Gly) c.4088T>G (p.Val1363Gly) n.4457T>G | ClinVar dbSNP |
13 | g.32338812T= | CA2082812196 | BRCA2 | c.4457T= (p.Val1486=) c.4088T= (p.Val1363=) n.4457T= | |
13 | g.32338813del | CA10589261 | BRCA2 | c.4458del (p.Lys1487AsnfsTer5) c.4089del (p.Lys1364AsnfsTer5) n.4458del | ClinVar dbSNP |
13 | g.32338813T>A | CA483437811 | BRCA2 | c.4458T>A (p.Val1486=) c.4089T>A (p.Val1363=) n.4458T>A | |
13 | g.32338813T>C | CA483437812 | BRCA2 | c.4458T>C (p.Val1486=) c.4089T>C (p.Val1363=) n.4458T>C | |
13 | g.32338813T>G | CA483437813 | BRCA2 | c.4458T>G (p.Val1486=) c.4089T>G (p.Val1363=) n.4458T>G | |
13 | g.32338813_32338815delinsTAA | CA2082812203 | BRCA2 | c.4458_4460delinsTAA (p.Val1486=) c.4089_4091delinsTAA (p.Val1363=) n.4458_4460delinsTAA | |
13 | g.32338813_32338819delinsTAAACAC | CA2082812202 | BRCA2 | c.4458_4464delinsTAAACAC (p.Val1486=) c.4089_4095delinsTAAACAC (p.Val1363=) n.4458_4464delinsTAAACAC | |
13 | g.32338814A>C | CA387781400 | BRCA2 | c.4459A>C (p.Lys1487Gln) c.4090A>C (p.Lys1364Gln) n.4459A>C | |
13 | g.32338814A>G | CA387781402 | BRCA2 | c.4459A>G (p.Lys1487Glu) c.4090A>G (p.Lys1364Glu) n.4459A>G |