Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32338795T>A | CA387781332 | BRCA2 | c.4440T>A (p.Tyr1480Ter) c.4071T>A (p.Tyr1357Ter) n.4440T>A | dbSNP |
13 | g.32338795T>C | CA16606788 | BRCA2 | c.4440T>C (p.Tyr1480=) c.4071T>C (p.Tyr1357=) n.4440T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32338795T>G | CA020187 | BRCA2 | c.4440T>G (p.Tyr1480Ter) c.4071T>G (p.Tyr1357Ter) n.4440T>G | ClinVar dbSNP |
13 | g.32338795T= | CA2082811986 | BRCA2 | c.4440T= (p.Tyr1480=) c.4071T= (p.Tyr1357=) n.4440T= | |
13 | g.32338796G>A | CA387781334 | BRCA2 | c.4441G>A (p.Glu1481Lys) c.4072G>A (p.Glu1358Lys) n.4441G>A | dbSNP |
13 | g.32338796G>C | CA387781336 | BRCA2 | c.4441G>C (p.Glu1481Gln) c.4072G>C (p.Glu1358Gln) n.4441G>C | dbSNP |
13 | g.32338796G= | CA2082812004 | BRCA2 | c.4441G= (p.Glu1481=) c.4072G= (p.Glu1358=) n.4441G= | |
13 | g.32338796G>T | CA387781338 | BRCA2 | c.4441G>T (p.Glu1481Ter) c.4072G>T (p.Glu1358Ter) n.4441G>T | ClinVar dbSNP |
13 | g.32338797A= | CA2082812012 | BRCA2 | c.4442A= (p.Glu1481=) c.4073A= (p.Glu1358=) n.4442A= | |
13 | g.32338797A>C | CA387781340 | BRCA2 | c.4442A>C (p.Glu1481Ala) c.4073A>C (p.Glu1358Ala) n.4442A>C | |
13 | g.32338797A>G | CA387781342 | BRCA2 | c.4442A>G (p.Glu1481Gly) c.4073A>G (p.Glu1358Gly) n.4442A>G | |
13 | g.32338797A>T | CA387781343 | BRCA2 | c.4442A>T (p.Glu1481Val) c.4073A>T (p.Glu1358Val) n.4442A>T | ClinVar dbSNP |
13 | g.32338798G>A | CA10579615 | BRCA2 | c.4443G>A (p.Glu1481=) c.4074G>A (p.Glu1358=) n.4443G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32338798G>C | CA387781345 | BRCA2 | c.4443G>C (p.Glu1481Asp) c.4074G>C (p.Glu1358Asp) n.4443G>C | ClinVar dbSNP |
13 | g.32338798G= | CA2082812025 | BRCA2 | c.4443G= (p.Glu1481=) c.4074G= (p.Glu1358=) n.4443G= | |
13 | g.32338798G>T | CA387781347 | BRCA2 | c.4443G>T (p.Glu1481Asp) c.4074G>T (p.Glu1358Asp) n.4443G>T | dbSNP |
13 | g.32338799G>A | CA247507673 | BRCA2 | c.4444G>A (p.Glu1482Lys) c.4075G>A (p.Glu1359Lys) n.4444G>A | dbSNP |
13 | g.32338799G>C | CA387781348 | BRCA2 | c.4444G>C (p.Glu1482Gln) c.4075G>C (p.Glu1359Gln) n.4444G>C | dbSNP |
13 | g.32338799G= | CA2082812044 | BRCA2 | c.4444G= (p.Glu1482=) c.4075G= (p.Glu1359=) n.4444G= | |
13 | g.32338799G>T | CA387781349 | BRCA2 | c.4444G>T (p.Glu1482Ter) c.4075G>T (p.Glu1359Ter) n.4444G>T | ClinVar dbSNP |
13 | g.32338799_32338800delinsGA | CA2082812042 | BRCA2 | c.4444_4445delinsGA (p.Glu1482=) c.4075_4076delinsGA (p.Glu1359=) n.4444_4445delinsGA | |
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.32338800A= | CA2082812068 | BRCA2 | c.4445A= (p.Glu1482=) c.4076A= (p.Glu1359=) n.4445A= | |
13 | g.32338800A>C | CA387781357 | BRCA2 | c.4445A>C (p.Glu1482Ala) c.4076A>C (p.Glu1359Ala) n.4445A>C | dbSNP |
13 | g.32338800A>G | CA350844 | BRCA2 | c.4445A>G (p.Glu1482Gly) c.4076A>G (p.Glu1359Gly) n.4445A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32338800A>T | CA387781355 | BRCA2 | c.4445A>T (p.Glu1482Val) c.4076A>T (p.Glu1359Val) n.4445A>T | dbSNP |
13 | g.32338802del | CA10579616 | BRCA2 | c.4447del (p.Thr1483GlnfsTer3) c.4078del (p.Thr1360GlnfsTer3) n.4447del | ClinVar dbSNP |
13 | g.32338801A>C | CA387781360 | BRCA2 | c.4446A>C (p.Glu1482Asp) c.4077A>C (p.Glu1359Asp) n.4446A>C | |
13 | g.32338801A>G | CA483437804 | BRCA2 | c.4446A>G (p.Glu1482=) c.4077A>G (p.Glu1359=) n.4446A>G | dbSNP |
13 | g.32338801A>T | CA387781358 | BRCA2 | c.4446A>T (p.Glu1482Asp) c.4077A>T (p.Glu1359Asp) n.4446A>T | dbSNP |
13 | g.32338801_32338803delinsAAC | CA2082812076 | BRCA2 | c.4446_4448delinsAAC (p.Glu1482=) c.4077_4079delinsAAC (p.Glu1359=) n.4446_4448delinsAAC | |
13 | g.32338802A= | CA2082812085 | BRCA2 | c.4447A= (p.Thr1483=) c.4078A= (p.Thr1360=) n.4447A= | |
13 | g.32338802A>C | CA387781365 | BRCA2 | c.4447A>C (p.Thr1483Pro) c.4078A>C (p.Thr1360Pro) n.4447A>C | |
13 | g.32338802A>G | CA387781364 | BRCA2 | c.4447A>G (p.Thr1483Ala) c.4078A>G (p.Thr1360Ala) n.4447A>G | ClinVar dbSNP |
13 | g.32338802A>T | CA387781362 | BRCA2 | c.4447A>T (p.Thr1483Ser) c.4078A>T (p.Thr1360Ser) n.4447A>T | dbSNP |
13 | g.32338803_32338804del | CA891844228 | BRCA2 | c.4448_4449del (p.Thr1483ArgfsTer4) c.4079_4080del (p.Thr1360ArgfsTer4) n.4448_4449del | ClinVar dbSNP |
13 | g.32338803C>A | CA387781366 | BRCA2 | c.4448C>A (p.Thr1483Lys) c.4079C>A (p.Thr1360Lys) n.4448C>A | dbSNP gnomAD v4 |
13 | g.32338803C>G | CA387781367 | BRCA2 | c.4448C>G (p.Thr1483Arg) c.4079C>G (p.Thr1360Arg) n.4448C>G | dbSNP |
13 | g.32338803C>T | CA387781369 | BRCA2 | c.4448C>T (p.Thr1483Ile) c.4079C>T (p.Thr1360Ile) n.4448C>T | 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 |