Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32339098_32339102delinsGACCA | CA2082815556 | BRCA2 | c.4743_4747delinsGACCA (p.Glu1581=) c.4374_4378delinsGACCA (p.Glu1458=) n.4743_4747delinsGACCA | |
13 | g.32339099_32339102del | CA919242635 | BRCA2 | c.4744_4747del (p.Thr1582LeufsTer?) c.4375_4378del (p.Thr1459LeufsTer?) n.4744_4747del | dbSNP |
13 | g.32339100C>A | CA387783072 | BRCA2 | c.4745C>A (p.Thr1582Asn) c.4376C>A (p.Thr1459Asn) n.4745C>A | dbSNP |
13 | g.32339100C= | CA2082815564 | BRCA2 | c.4745C= (p.Thr1582=) c.4376C= (p.Thr1459=) n.4745C= | |
13 | g.32339100C>G | CA387783074 | BRCA2 | c.4745C>G (p.Thr1582Ser) c.4376C>G (p.Thr1459Ser) n.4745C>G | dbSNP |
13 | g.32339100C>T | CA6940810 | BRCA2 | c.4745C>T (p.Thr1582Ile) c.4376C>T (p.Thr1459Ile) n.4745C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32339101C>A | CA483438188 | BRCA2 | c.4746C>A (p.Thr1582=) c.4377C>A (p.Thr1459=) n.4746C>A | dbSNP |
13 | g.32339101C>G | CA483438193 | BRCA2 | c.4746C>G (p.Thr1582=) c.4377C>G (p.Thr1459=) n.4746C>G | dbSNP |
13 | g.32339101C>T | CA483438190 | BRCA2 | c.4746C>T (p.Thr1582=) c.4377C>T (p.Thr1459=) n.4746C>T | dbSNP |
13 | g.32339101_32339104delinsCATT | CA2082815571 | BRCA2 | c.4746_4749delinsCATT (p.Thr1582=) c.4377_4380delinsCATT (p.Thr1459=) n.4746_4749delinsCATT | |
13 | g.32339102A= | CA2082815579 | BRCA2 | c.4747A= (p.Ile1583=) c.4378A= (p.Ile1460=) n.4747A= | |
13 | g.32339102A>C | CA387783076 | BRCA2 | c.4747A>C (p.Ile1583Leu) c.4378A>C (p.Ile1460Leu) n.4747A>C | dbSNP |
13 | g.32339102A>G | CA10579629 | BRCA2 | c.4747A>G (p.Ile1583Val) c.4378A>G (p.Ile1460Val) n.4747A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32339102A>T | CA020749 | BRCA2 | c.4747A>T (p.Ile1583Phe) c.4378A>T (p.Ile1460Phe) n.4747A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32339102_32339103delinsAT | CA2082815584 | BRCA2 | c.4747_4748delinsAT (p.Ile1583=) c.4378_4379delinsAT (p.Ile1460=) n.4747_4748delinsAT | |
13 | g.32339102_32339104del | CA915948471 | BRCA2 | c.4747_4749del (p.Ile1583del) c.4378_4380del (p.Ile1460del) n.4747_4749del | ClinVar dbSNP |
13 | g.32339103T>A | CA387783079 | BRCA2 | c.4748T>A (p.Ile1583Asn) c.4379T>A (p.Ile1460Asn) n.4748T>A | dbSNP |
13 | g.32339103T>C | CA387783077 | BRCA2 | c.4748T>C (p.Ile1583Thr) c.4379T>C (p.Ile1460Thr) n.4748T>C | ClinVar dbSNP |
13 | g.32339103T>G | CA387783078 | BRCA2 | c.4748T>G (p.Ile1583Ser) c.4379T>G (p.Ile1460Ser) n.4748T>G | dbSNP |
13 | g.32339103T= | CA2082815596 | BRCA2 | c.4748T= (p.Ile1583=) c.4379T= (p.Ile1460=) n.4748T= | |
13 | g.32339104del | CA645509349 | BRCA2 | c.4749del (p.Ile1583MetfsTer?) c.4380del (p.Ile1460MetfsTer?) n.4749del | ClinVar dbSNP |
13 | g.32339104T>A | CA483438197 | BRCA2 | c.4749T>A (p.Ile1583=) c.4380T>A (p.Ile1460=) n.4749T>A | ClinVar dbSNP |
13 | g.32339104T>C | CA483438198 | BRCA2 | c.4749T>C (p.Ile1583=) c.4380T>C (p.Ile1460=) n.4749T>C | dbSNP |
13 | g.32339104T>G | CA387783080 | BRCA2 | c.4749T>G (p.Ile1583Met) c.4380T>G (p.Ile1460Met) n.4749T>G | ClinVar dbSNP |
13 | g.32339104T= | CA2082815608 | BRCA2 | c.4749T= (p.Ile1583=) c.4380T= (p.Ile1460=) n.4749T= | |
13 | g.32339105G>A | CA387783081 | BRCA2 | c.4750G>A (p.Glu1584Lys) c.4381G>A (p.Glu1461Lys) n.4750G>A | ClinVar dbSNP |
13 | g.32339105G>C | CA247508355 | BRCA2 | c.4750G>C (p.Glu1584Gln) c.4381G>C (p.Glu1461Gln) n.4750G>C | ClinVar dbSNP COSMIC COSMIC |
13 | g.32339105G= | CA2082815627 | BRCA2 | c.4750G= (p.Glu1584=) c.4381G= (p.Glu1461=) n.4750G= | |
13 | g.32339105G>T | CA387783082 | BRCA2 | c.4750G>T (p.Glu1584Ter) c.4381G>T (p.Glu1461Ter) n.4750G>T | dbSNP |
13 | g.32339105_32339106delinsAG | CA16619715 | BRCA2 | c.4750_4751delinsAG (p.Glu1584Arg) c.4381_4382delinsAG (p.Glu1461Arg) n.4750_4751delinsAG | ClinVar dbSNP |
13 | g.32339105_32339106delinsGA | CA2082815634 | BRCA2 | c.4750_4751delinsGA (p.Glu1584=) c.4381_4382delinsGA (p.Glu1461=) n.4750_4751delinsGA | |
13 | g.32339106A>C | CA387783083 | BRCA2 | c.4751A>C (p.Glu1584Ala) c.4382A>C (p.Glu1461Ala) n.4751A>C | |
13 | g.32339106A>G | CA387783085 | BRCA2 | c.4751A>G (p.Glu1584Gly) c.4382A>G (p.Glu1461Gly) n.4751A>G | dbSNP |
13 | g.32339106A>T | CA387783088 | BRCA2 | c.4751A>T (p.Glu1584Val) c.4382A>T (p.Glu1461Val) n.4751A>T | dbSNP COSMIC COSMIC |
13 | g.32339107G>A | CA483438202 | BRCA2 | c.4752G>A (p.Glu1584=) c.4383G>A (p.Glu1461=) n.4752G>A | dbSNP |
13 | g.32339107G>C | CA387783090 | BRCA2 | c.4752G>C (p.Glu1584Asp) c.4383G>C (p.Glu1461Asp) n.4752G>C | dbSNP |
13 | g.32339107G>T | CA387783091 | BRCA2 | c.4752G>T (p.Glu1584Asp) c.4383G>T (p.Glu1461Asp) n.4752G>T | dbSNP |
13 | g.32339108A>C | CA387783093 | BRCA2 | c.4753A>C (p.Ile1585Leu) c.4384A>C (p.Ile1462Leu) n.4753A>C | dbSNP |
13 | g.32339108A>G | CA387783095 | BRCA2 | c.4753A>G (p.Ile1585Val) c.4384A>G (p.Ile1462Val) n.4753A>G | |
13 | g.32339108A>T | CA387783096 | BRCA2 | c.4753A>T (p.Ile1585Phe) c.4384A>T (p.Ile1462Phe) n.4753A>T | ClinVar dbSNP |
13 | g.32339109T>A | CA387783103 | BRCA2 | c.4754T>A (p.Ile1585Asn) c.4385T>A (p.Ile1462Asn) n.4754T>A | |
13 | g.32339109T>C | CA387783099 | BRCA2 | c.4754T>C (p.Ile1585Thr) c.4385T>C (p.Ile1462Thr) n.4754T>C | |
13 | g.32339109T>G | CA387783097 | BRCA2 | c.4754T>G (p.Ile1585Ser) c.4385T>G (p.Ile1462Ser) n.4754T>G | |
13 | g.32339110C>A | CA483438207 | BRCA2 | c.4755C>A (p.Ile1585=) c.4386C>A (p.Ile1462=) n.4755C>A | dbSNP |
13 | g.32339110C>G | CA387783105 | BRCA2 | c.4755C>G (p.Ile1585Met) c.4386C>G (p.Ile1462Met) n.4755C>G | dbSNP |
13 | g.32339110C>T | CA483438208 | BRCA2 | c.4755C>T (p.Ile1585=) c.4386C>T (p.Ile1462=) n.4755C>T | ClinVar dbSNP gnomAD v4 |
13 | g.32339111A= | CA2082815641 | BRCA2 | c.4756A= (p.Thr1586=) c.4387A= (p.Thr1463=) n.4756A= | |
13 | g.32339111A>C | CA387783110 | BRCA2 | c.4756A>C (p.Thr1586Pro) c.4387A>C (p.Thr1463Pro) n.4756A>C | dbSNP |
13 | g.32339111A>G | CA387783107 | BRCA2 | c.4756A>G (p.Thr1586Ala) c.4387A>G (p.Thr1463Ala) n.4756A>G | ClinVar dbSNP gnomAD v4 |
13 | g.32339111A>T | CA387783108 | BRCA2 | c.4756A>T (p.Thr1586Ser) c.4387A>T (p.Thr1463Ser) n.4756A>T | dbSNP |