Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.90088391C>A | CA393801940 | IDH2 | c.646G>T (p.Gly216Cys) c.490G>T (p.Gly164Cys) c.319G>T (p.Gly107Cys) c.*271G>T (n.*271G>T) c.256G>T (p.Gly86Cys) | |
15 | g.90088391C= | CA2194954332 | IDH2 | c.646G= (p.Gly216=) c.490G= (p.Gly164=) c.319G= (p.Gly107=) c.*271G= (n.*271G=) c.256G= (p.Gly86=) | |
15 | g.90088391C>G | CA393801941 | IDH2 | c.646G>C (p.Gly216Arg) c.490G>C (p.Gly164Arg) c.319G>C (p.Gly107Arg) c.*271G>C (n.*271G>C) c.256G>C (p.Gly86Arg) | |
15 | g.90088391C>T | CA7733122 | IDH2 | c.646G>A (p.Gly216Ser) c.490G>A (p.Gly164Ser) c.319G>A (p.Gly107Ser) c.*271G>A (n.*271G>A) c.256G>A (p.Gly86Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.90088392G>A | CA7733123 | IDH2 | c.645C>T (p.Gly215=) c.489C>T (p.Gly163=) c.318C>T (p.Gly106=) c.*270C>T (n.*270C>T) c.255C>T (p.Gly85=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.90088392G>C | CA492297424 | IDH2 | c.645C>G (p.Gly215=) c.489C>G (p.Gly163=) c.318C>G (p.Gly106=) c.*270C>G (n.*270C>G) c.255C>G (p.Gly85=) | dbSNP |
15 | g.90088392G= | CA2194954333 | IDH2 | c.645C= (p.Gly215=) c.489C= (p.Gly163=) c.318C= (p.Gly106=) c.*270C= (n.*270C=) c.255C= (p.Gly85=) | |
15 | g.90088392G>T | CA492297425 | IDH2 | c.645C>A (p.Gly215=) c.489C>A (p.Gly163=) c.318C>A (p.Gly106=) c.*270C>A (n.*270C>A) c.255C>A (p.Gly85=) | COSMIC |
15 | g.90088392_90088393insGTTGCGG | CA2805186142 | IDH2 | c.645_646insCGCAACC (p.Gly216ArgfsTer?) c.489_490insCGCAACC (p.Gly164ArgfsTer?) c.318_319insCGCAACC (p.Gly107ArgfsTer?) c.*270_*271insCGCAACC (n.*270_*271insCGCAACC) c.255_256insCGCAACC (p.Gly86ArgfsTer?) | |
15 | g.90088393C>A | CA393801942 | IDH2 | c.644G>T (p.Gly215Val) c.488G>T (p.Gly163Val) c.317G>T (p.Gly106Val) c.*269G>T (n.*269G>T) c.254G>T (p.Gly85Val) | |
15 | g.90088393C= | CA2194954334 | IDH2 | c.644G= (p.Gly215=) c.488G= (p.Gly163=) c.317G= (p.Gly106=) c.*269G= (n.*269G=) c.254G= (p.Gly85=) | |
15 | g.90088393C>G | CA393801943 | IDH2 | c.644G>C (p.Gly215Ala) c.488G>C (p.Gly163Ala) c.317G>C (p.Gly106Ala) c.*269G>C (n.*269G>C) c.254G>C (p.Gly85Ala) | dbSNP |
15 | g.90088393C>T | CA393801944 | IDH2 | c.644G>A (p.Gly215Asp) c.488G>A (p.Gly163Asp) c.317G>A (p.Gly106Asp) c.*269G>A (n.*269G>A) c.254G>A (p.Gly85Asp) | dbSNP gnomAD v4 |
15 | g.90088394C>A | CA393801945 | IDH2 | c.643G>T (p.Gly215Cys) c.487G>T (p.Gly163Cys) c.316G>T (p.Gly106Cys) c.*268G>T (n.*268G>T) c.253G>T (p.Gly85Cys) | |
15 | g.90088394C>G | CA393801946 | IDH2 | c.643G>C (p.Gly215Arg) c.487G>C (p.Gly163Arg) c.316G>C (p.Gly106Arg) c.*268G>C (n.*268G>C) c.253G>C (p.Gly85Arg) | |
15 | g.90088394C>T | CA393801947 | IDH2 | c.643G>A (p.Gly215Ser) c.487G>A (p.Gly163Ser) c.316G>A (p.Gly106Ser) c.*268G>A (n.*268G>A) c.253G>A (p.Gly85Ser) | |
15 | g.90088395T>A | CA492297427 | IDH2 | c.642A>T (p.Ala214=) c.486A>T (p.Ala162=) c.315A>T (p.Ala105=) c.*267A>T (n.*267A>T) c.252A>T (p.Ala84=) | |
15 | g.90088395T>C | CA492297428 | IDH2 | c.642A>G (p.Ala214=) c.486A>G (p.Ala162=) c.315A>G (p.Ala105=) c.*267A>G (n.*267A>G) c.252A>G (p.Ala84=) | |
15 | g.90088395T>G | CA492297429 | IDH2 | c.642A>C (p.Ala214=) c.486A>C (p.Ala162=) c.315A>C (p.Ala105=) c.*267A>C (n.*267A>C) c.252A>C (p.Ala84=) | dbSNP |
15 | g.90088395T= | CA2194954335 | IDH2 | c.642A= (p.Ala214=) c.486A= (p.Ala162=) c.315A= (p.Ala105=) c.*267A= (n.*267A=) c.252A= (p.Ala84=) | |
15 | g.90088396G>A | CA393801948 | IDH2 | c.641C>T (p.Ala214Val) c.485C>T (p.Ala162Val) c.314C>T (p.Ala105Val) c.*266C>T (n.*266C>T) c.251C>T (p.Ala84Val) | dbSNP COSMIC |
15 | g.90088396G>C | CA393801949 | IDH2 | c.641C>G (p.Ala214Gly) c.485C>G (p.Ala162Gly) c.314C>G (p.Ala105Gly) c.*266C>G (n.*266C>G) c.251C>G (p.Ala84Gly) | dbSNP |
15 | g.90088396G>T | CA393801950 | IDH2 | c.641C>A (p.Ala214Glu) c.485C>A (p.Ala162Glu) c.314C>A (p.Ala105Glu) c.*266C>A (n.*266C>A) c.251C>A (p.Ala84Glu) | |
15 | g.90088397C>A | CA393801951 | IDH2 | c.640G>T (p.Ala214Ser) c.484G>T (p.Ala162Ser) c.313G>T (p.Ala105Ser) c.*265G>T (n.*265G>T) c.250G>T (p.Ala84Ser) | |
15 | g.90088397C= | CA2194954336 | IDH2 | c.640G= (p.Ala214=) c.484G= (p.Ala162=) c.313G= (p.Ala105=) c.*265G= (n.*265G=) c.250G= (p.Ala84=) | |
15 | g.90088397C>G | CA393801952 | IDH2 | c.640G>C (p.Ala214Pro) c.484G>C (p.Ala162Pro) c.313G>C (p.Ala105Pro) c.*265G>C (n.*265G>C) c.250G>C (p.Ala84Pro) | gnomAD v4 |
15 | g.90088397C>T | CA7733124 | IDH2 | c.640G>A (p.Ala214Thr) c.484G>A (p.Ala162Thr) c.313G>A (p.Ala105Thr) c.*265G>A (n.*265G>A) c.250G>A (p.Ala84Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.90088398G>A | CA492297432 | IDH2 | c.639C>T (p.Pro213=) c.483C>T (p.Pro161=) c.312C>T (p.Pro104=) c.*264C>T (n.*264C>T) c.249C>T (p.Pro83=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.90088398G>C | CA492297433 | IDH2 | c.639C>G (p.Pro213=) c.483C>G (p.Pro161=) c.312C>G (p.Pro104=) c.*264C>G (n.*264C>G) c.249C>G (p.Pro83=) | dbSNP |
15 | g.90088398G= | CA2194954337 | IDH2 | c.639C= (p.Pro213=) c.483C= (p.Pro161=) c.312C= (p.Pro104=) c.*264C= (n.*264C=) c.249C= (p.Pro83=) | |
15 | g.90088398G>T | CA492297434 | IDH2 | c.639C>A (p.Pro213=) c.483C>A (p.Pro161=) c.312C>A (p.Pro104=) c.*264C>A (n.*264C>A) c.249C>A (p.Pro83=) | |
15 | g.90088399G>A | CA393801953 | IDH2 | c.638C>T (p.Pro213Leu) c.482C>T (p.Pro161Leu) c.311C>T (p.Pro104Leu) c.*263C>T (n.*263C>T) c.248C>T (p.Pro83Leu) | ClinVar |
15 | g.90088399G>C | CA393801954 | IDH2 | c.638C>G (p.Pro213Arg) c.482C>G (p.Pro161Arg) c.311C>G (p.Pro104Arg) c.*263C>G (n.*263C>G) c.248C>G (p.Pro83Arg) | |
15 | g.90088399G>T | CA393801955 | IDH2 | c.638C>A (p.Pro213His) c.482C>A (p.Pro161His) c.311C>A (p.Pro104His) c.*263C>A (n.*263C>A) c.248C>A (p.Pro83His) | |
15 | g.90088399_90088400insCCAACGGGCCGATGAGCACCACCGACAGGGCGCCGGTCGCGGAGCCCACCGTGAAGCCGATAATATCCGGCGAACCCAGAGCATTGCGCGACACCGACTGGAAAATCGCGCCCGACA | CA2805186143 | IDH2 | c.637_638insTGTCGGGCGCGATTTTCCAGTCGGTGTCGCGCAATGCTCTGGGTTCGCCGGATATTATCGGCTTCACGGTGGGCTCCGCGACCGGCGCCCTGTCGGTGGTGCTCATCGGCCCGTTGG (p.Pro213delinsLeuSerGlyAlaIlePheGlnSerValSerArgAsnAlaLeuGlySerProAspIleIleGlyPheThrValGlySerAlaThrGlyAlaLeuSerValValLeuIleGlyProLeuAla) c.481_482insTGTCGGGCGCGATTTTCCAGTCGGTGTCGCGCAATGCTCTGGGTTCGCCGGATATTATCGGCTTCACGGTGGGCTCCGCGACCGGCGCCCTGTCGGTGGTGCTCATCGGCCCGTTGG (p.Pro161delinsLeuSerGlyAlaIlePheGlnSerValSerArgAsnAlaLeuGlySerProAspIleIleGlyPheThrValGlySerAlaThrGlyAlaLeuSerValValLeuIleGlyProLeuAla) c.310_311insTGTCGGGCGCGATTTTCCAGTCGGTGTCGCGCAATGCTCTGGGTTCGCCGGATATTATCGGCTTCACGGTGGGCTCCGCGACCGGCGCCCTGTCGGTGGTGCTCATCGGCCCGTTGG (p.Pro104delinsLeuSerGlyAlaIlePheGlnSerValSerArgAsnAlaLeuGlySerProAspIleIleGlyPheThrValGlySerAlaThrGlyAlaLeuSerValValLeuIleGlyProLeuAla) c.*262_*263insTGTCGGGCGCGATTTTCCAGTCGGTGTCGCGCAATGCTCTGGGTTCGCCGGATATTATCGGCTTCACGGTGGGCTCCGCGACCGGCGCCCTGTCGGTGGTGCTCATCGGCCCGTTGG (n.*262_*263insTGTCGGGCGCGATTTTCCAGTCGGTGTCGCGCAATGCTCTGGGTTCGCCGGATATTATCGGCTTCACGGTGGGCTCCGCGACCGGCGCCCTGTCGGTGGTGCTCATCGGCCCGTTGG) c.247_248insTGTCGGGCGCGATTTTCCAGTCGGTGTCGCGCAATGCTCTGGGTTCGCCGGATATTATCGGCTTCACGGTGGGCTCCGCGACCGGCGCCCTGTCGGTGGTGCTCATCGGCCCGTTGG (p.Pro83delinsLeuSerGlyAlaIlePheGlnSerValSerArgAsnAlaLeuGlySerProAspIleIleGlyPheThrValGlySerAlaThrGlyAlaLeuSerValValLeuIleGlyProLeuAla) | |
15 | g.90088399_90088400insCCAACGGGCCGATGAGCACCACCGACAGGGCGCCGGTCGCGGAGCCCACCGTGAAGCCGATAATATCCGGCGAACCCAGAGCATTGCGCGACACCGACTGGAAAATCGCGCCCGACAGGCCCA | CA2538181795 | IDH2 | c.637_638insTGGGCCTGTCGGGCGCGATTTTCCAGTCGGTGTCGCGCAATGCTCTGGGTTCGCCGGATATTATCGGCTTCACGGTGGGCTCCGCGACCGGCGCCCTGTCGGTGGTGCTCATCGGCCCGTTGG (p.Pro213delinsLeuGlyLeuSerGlyAlaIlePheGlnSerValSerArgAsnAlaLeuGlySerProAspIleIleGlyPheThrValGlySerAlaThrGlyAlaLeuSerValValLeuIleGlyProLeuAla) c.481_482insTGGGCCTGTCGGGCGCGATTTTCCAGTCGGTGTCGCGCAATGCTCTGGGTTCGCCGGATATTATCGGCTTCACGGTGGGCTCCGCGACCGGCGCCCTGTCGGTGGTGCTCATCGGCCCGTTGG (p.Pro161delinsLeuGlyLeuSerGlyAlaIlePheGlnSerValSerArgAsnAlaLeuGlySerProAspIleIleGlyPheThrValGlySerAlaThrGlyAlaLeuSerValValLeuIleGlyProLeuAla) c.310_311insTGGGCCTGTCGGGCGCGATTTTCCAGTCGGTGTCGCGCAATGCTCTGGGTTCGCCGGATATTATCGGCTTCACGGTGGGCTCCGCGACCGGCGCCCTGTCGGTGGTGCTCATCGGCCCGTTGG (p.Pro104delinsLeuGlyLeuSerGlyAlaIlePheGlnSerValSerArgAsnAlaLeuGlySerProAspIleIleGlyPheThrValGlySerAlaThrGlyAlaLeuSerValValLeuIleGlyProLeuAla) c.*262_*263insTGGGCCTGTCGGGCGCGATTTTCCAGTCGGTGTCGCGCAATGCTCTGGGTTCGCCGGATATTATCGGCTTCACGGTGGGCTCCGCGACCGGCGCCCTGTCGGTGGTGCTCATCGGCCCGTTGG (n.*262_*263insTGGGCCTGTCGGGCGCGATTTTCCAGTCGGTGTCGCGCAATGCTCTGGGTTCGCCGGATATTATCGGCTTCACGGTGGGCTCCGCGACCGGCGCCCTGTCGGTGGTGCTCATCGGCCCGTTGG) c.247_248insTGGGCCTGTCGGGCGCGATTTTCCAGTCGGTGTCGCGCAATGCTCTGGGTTCGCCGGATATTATCGGCTTCACGGTGGGCTCCGCGACCGGCGCCCTGTCGGTGGTGCTCATCGGCCCGTTGG (p.Pro83delinsLeuGlyLeuSerGlyAlaIlePheGlnSerValSerArgAsnAlaLeuGlySerProAspIleIleGlyPheThrValGlySerAlaThrGlyAlaLeuSerValValLeuIleGlyProLeuAla) | |
15 | g.90088400G>A | CA393801956 | IDH2 | c.637C>T (p.Pro213Ser) c.481C>T (p.Pro161Ser) c.310C>T (p.Pro104Ser) c.*262C>T (n.*262C>T) c.247C>T (p.Pro83Ser) | dbSNP COSMIC |
15 | g.90088400G>C | CA393801957 | IDH2 | c.637C>G (p.Pro213Ala) c.481C>G (p.Pro161Ala) c.310C>G (p.Pro104Ala) c.*262C>G (n.*262C>G) c.247C>G (p.Pro83Ala) | |
15 | g.90088400G= | CA2194954338 | IDH2 | c.637C= (p.Pro213=) c.481C= (p.Pro161=) c.310C= (p.Pro104=) c.*262C= (n.*262C=) c.247C= (p.Pro83=) | |
15 | g.90088400G>T | CA393801958 | IDH2 | c.637C>A (p.Pro213Thr) c.481C>A (p.Pro161Thr) c.310C>A (p.Pro104Thr) c.*262C>A (n.*262C>A) c.247C>A (p.Pro83Thr) | gnomAD v4 |
15 | g.90088400_90088401insCCGATGAGCACCACCGACAGGGCGCCGGTCGCGGAGCCCACCGTGAAGCCGATAATATCCGGCGAACCCAGAGCATTGCGCGACACCGACTG | CA2805186144 | IDH2 | c.637_638insAGTCGGTGTCGCGCAATGCTCTGGGTTCGCCGGATATTATCGGCTTCACGGTGGGCTCCGCGACCGGCGCCCTGTCGGTGGTGCTCATCGGC (p.Pro213GlnfsTer?) c.481_482insAGTCGGTGTCGCGCAATGCTCTGGGTTCGCCGGATATTATCGGCTTCACGGTGGGCTCCGCGACCGGCGCCCTGTCGGTGGTGCTCATCGGC (p.Pro161GlnfsTer?) c.310_311insAGTCGGTGTCGCGCAATGCTCTGGGTTCGCCGGATATTATCGGCTTCACGGTGGGCTCCGCGACCGGCGCCCTGTCGGTGGTGCTCATCGGC (p.Pro104GlnfsTer?) c.*262_*263insAGTCGGTGTCGCGCAATGCTCTGGGTTCGCCGGATATTATCGGCTTCACGGTGGGCTCCGCGACCGGCGCCCTGTCGGTGGTGCTCATCGGC (n.*262_*263insAGTCGGTGTCGCGCAATGCTCTGGGTTCGCCGGATATTATCGGCTTCACGGTGGGCTCCGCGACCGGCGCCCTGTCGGTGGTGCTCATCGGC) c.247_248insAGTCGGTGTCGCGCAATGCTCTGGGTTCGCCGGATATTATCGGCTTCACGGTGGGCTCCGCGACCGGCGCCCTGTCGGTGGTGCTCATCGGC (p.Pro83GlnfsTer?) | |
15 | g.90088401G>A | CA492297436 | IDH2 | c.636C>T (p.Phe212=) c.480C>T (p.Phe160=) c.309C>T (p.Phe103=) c.*261C>T (n.*261C>T) c.246C>T (p.Phe82=) | dbSNP COSMIC |
15 | g.90088401G>C | CA393801959 | IDH2 | c.636C>G (p.Phe212Leu) c.480C>G (p.Phe160Leu) c.309C>G (p.Phe103Leu) c.*261C>G (n.*261C>G) c.246C>G (p.Phe82Leu) | gnomAD v4 |
15 | g.90088401G= | CA2194954339 | IDH2 | c.636C= (p.Phe212=) c.480C= (p.Phe160=) c.309C= (p.Phe103=) c.*261C= (n.*261C=) c.246C= (p.Phe82=) | |
15 | g.90088401G>T | CA7733125 | IDH2 | c.636C>A (p.Phe212Leu) c.480C>A (p.Phe160Leu) c.309C>A (p.Phe103Leu) c.*261C>A (n.*261C>A) c.246C>A (p.Phe82Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.90088402A>C | CA393801960 | IDH2 | c.635T>G (p.Phe212Cys) c.479T>G (p.Phe160Cys) c.308T>G (p.Phe103Cys) c.*260T>G (n.*260T>G) c.245T>G (p.Phe82Cys) | |
15 | g.90088402A>G | CA393801961 | IDH2 | c.635T>C (p.Phe212Ser) c.479T>C (p.Phe160Ser) c.308T>C (p.Phe103Ser) c.*260T>C (n.*260T>C) c.245T>C (p.Phe82Ser) | |
15 | g.90088402A>T | CA393801962 | IDH2 | c.635T>A (p.Phe212Tyr) c.479T>A (p.Phe160Tyr) c.308T>A (p.Phe103Tyr) c.*260T>A (n.*260T>A) c.245T>A (p.Phe82Tyr) | |
15 | g.90088403A>C | CA393801963 | IDH2 | c.634T>G (p.Phe212Val) c.478T>G (p.Phe160Val) c.307T>G (p.Phe103Val) c.*259T>G (n.*259T>G) c.244T>G (p.Phe82Val) | |
15 | g.90088403A>G | CA393801964 | IDH2 | c.634T>C (p.Phe212Leu) c.478T>C (p.Phe160Leu) c.307T>C (p.Phe103Leu) c.*259T>C (n.*259T>C) c.244T>C (p.Phe82Leu) | gnomAD v4 |
15 | g.90088403A>T | CA393801965 | IDH2 | c.634T>A (p.Phe212Ile) c.478T>A (p.Phe160Ile) c.307T>A (p.Phe103Ile) c.*259T>A (n.*259T>A) c.244T>A (p.Phe82Ile) | |
15 | g.90088404G>A | CA492297438 | IDH2 | c.633C>T (p.Asn211=) c.477C>T (p.Asn159=) c.306C>T (p.Asn102=) c.*258C>T (n.*258C>T) c.243C>T (p.Asn81=) | |
15 | g.90088404G>C | CA393801967 | IDH2 | c.633C>G (p.Asn211Lys) c.477C>G (p.Asn159Lys) c.306C>G (p.Asn102Lys) c.*258C>G (n.*258C>G) c.243C>G (p.Asn81Lys) | |
15 | g.90088404G>T | CA393801966 | IDH2 | c.633C>A (p.Asn211Lys) c.477C>A (p.Asn159Lys) c.306C>A (p.Asn102Lys) c.*258C>A (n.*258C>A) c.243C>A (p.Asn81Lys) | |
15 | g.90088405T>A | CA393801968 | IDH2 | c.632A>T (p.Asn211Ile) c.476A>T (p.Asn159Ile) c.305A>T (p.Asn102Ile) c.*257A>T (n.*257A>T) c.242A>T (p.Asn81Ile) | dbSNP |
15 | g.90088405T>C | CA393801970 | IDH2 | c.632A>G (p.Asn211Ser) c.476A>G (p.Asn159Ser) c.305A>G (p.Asn102Ser) c.*257A>G (n.*257A>G) c.242A>G (p.Asn81Ser) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.90088405T>G | CA393801969 | IDH2 | c.632A>C (p.Asn211Thr) c.476A>C (p.Asn159Thr) c.305A>C (p.Asn102Thr) c.*257A>C (n.*257A>C) c.242A>C (p.Asn81Thr) | gnomAD v4 |
15 | g.90088405T= | CA2194954340 | IDH2 | c.632A= (p.Asn211=) c.476A= (p.Asn159=) c.305A= (p.Asn102=) c.*257A= (n.*257A=) c.242A= (p.Asn81=) | |
15 | g.90088406del | CA2575832577 | IDH2 | c.632del (p.Asn211ThrfsTer?) c.476del (p.Asn159ThrfsTer?) c.305del (p.Asn102ThrfsTer?) c.*257del (n.*257del) c.242del (p.Asn81ThrfsTer?) | |
15 | g.90088406T>A | CA393801971 | IDH2 | c.631A>T (p.Asn211Tyr) c.475A>T (p.Asn159Tyr) c.304A>T (p.Asn102Tyr) c.*256A>T (n.*256A>T) c.241A>T (p.Asn81Tyr) | |
15 | g.90088406T>C | CA393801973 | IDH2 | c.631A>G (p.Asn211Asp) c.475A>G (p.Asn159Asp) c.304A>G (p.Asn102Asp) c.*256A>G (n.*256A>G) c.241A>G (p.Asn81Asp) | |
15 | g.90088406T>G | CA393801972 | IDH2 | c.631A>C (p.Asn211His) c.475A>C (p.Asn159His) c.304A>C (p.Asn102His) c.*256A>C (n.*256A>C) c.241A>C (p.Asn81His) | |
15 | g.90088407G>A | CA492297441 | IDH2 | c.630C>T (p.Tyr210=) c.474C>T (p.Tyr158=) c.303C>T (p.Tyr101=) c.*255C>T (n.*255C>T) c.240C>T (p.Tyr80=) | |
15 | g.90088407G>C | CA393801974 | IDH2 | c.630C>G (p.Tyr210Ter) c.474C>G (p.Tyr158Ter) c.303C>G (p.Tyr101Ter) c.*255C>G (n.*255C>G) c.240C>G (p.Tyr80Ter) | |
15 | g.90088407G>T | CA393801975 | IDH2 | c.630C>A (p.Tyr210Ter) c.474C>A (p.Tyr158Ter) c.303C>A (p.Tyr101Ter) c.*255C>A (n.*255C>A) c.240C>A (p.Tyr80Ter) | |
15 | g.90088408T>A | CA393801976 | IDH2 | c.629A>T (p.Tyr210Phe) c.473A>T (p.Tyr158Phe) c.302A>T (p.Tyr101Phe) c.*254A>T (n.*254A>T) c.239A>T (p.Tyr80Phe) | |
15 | g.90088408T>C | CA393801977 | IDH2 | c.629A>G (p.Tyr210Cys) c.473A>G (p.Tyr158Cys) c.302A>G (p.Tyr101Cys) c.*254A>G (n.*254A>G) c.239A>G (p.Tyr80Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.90088408T>G | CA393801978 | IDH2 | c.629A>C (p.Tyr210Ser) c.473A>C (p.Tyr158Ser) c.302A>C (p.Tyr101Ser) c.*254A>C (n.*254A>C) c.239A>C (p.Tyr80Ser) | |
15 | g.90088408T= | CA2194954341 | IDH2 | c.629A= (p.Tyr210=) c.473A= (p.Tyr158=) c.302A= (p.Tyr101=) c.*254A= (n.*254A=) c.239A= (p.Tyr80=) | |
15 | g.90088409A= | CA2194954342 | IDH2 | c.628T= (p.Tyr210=) c.472T= (p.Tyr158=) c.301T= (p.Tyr101=) c.*253T= (n.*253T=) c.238T= (p.Tyr80=) | |
15 | g.90088409A>C | CA393801979 | IDH2 | c.628T>G (p.Tyr210Asp) c.472T>G (p.Tyr158Asp) c.301T>G (p.Tyr101Asp) c.*253T>G (n.*253T>G) c.238T>G (p.Tyr80Asp) | |
15 | g.90088409A>G | CA393801980 | IDH2 | c.628T>C (p.Tyr210His) c.472T>C (p.Tyr158His) c.301T>C (p.Tyr101His) c.*253T>C (n.*253T>C) c.238T>C (p.Tyr80His) | |
15 | g.90088409A>T | CA393801981 | IDH2 | c.628T>A (p.Tyr210Asn) c.472T>A (p.Tyr158Asn) c.301T>A (p.Tyr101Asn) c.*253T>A (n.*253T>A) c.238T>A (p.Tyr80Asn) | dbSNP |
15 | g.90088410C>A | CA492297446 | IDH2 | c.627G>T (p.Val209=) c.471G>T (p.Val157=) c.300G>T (p.Val100=) c.*252G>T (n.*252G>T) c.237G>T (p.Val79=) | |
15 | g.90088410C>G | CA492297447 | IDH2 | c.627G>C (p.Val209=) c.471G>C (p.Val157=) c.300G>C (p.Val100=) c.*252G>C (n.*252G>C) c.237G>C (p.Val79=) | |
15 | g.90088410C>T | CA492297449 | IDH2 | c.627G>A (p.Val209=) c.471G>A (p.Val157=) c.300G>A (p.Val100=) c.*252G>A (n.*252G>A) c.237G>A (p.Val79=) | |
15 | g.90088411A>C | CA393801984 | IDH2 | c.626T>G (p.Val209Gly) c.470T>G (p.Val157Gly) c.299T>G (p.Val100Gly) c.*251T>G (n.*251T>G) c.236T>G (p.Val79Gly) | |
15 | g.90088411A>G | CA393801982 | IDH2 | c.626T>C (p.Val209Ala) c.470T>C (p.Val157Ala) c.299T>C (p.Val100Ala) c.*251T>C (n.*251T>C) c.236T>C (p.Val79Ala) | |
15 | g.90088411A>T | CA393801983 | IDH2 | c.626T>A (p.Val209Glu) c.470T>A (p.Val157Glu) c.299T>A (p.Val100Glu) c.*251T>A (n.*251T>A) c.236T>A (p.Val79Glu) | |
15 | g.90088411dup | CA2575832578 | IDH2 | c.626dup (p.Tyr210ValfsTer?) c.470dup (p.Tyr158ValfsTer?) c.299dup (p.Tyr101ValfsTer?) c.*251dup (n.*251dup) c.236dup (p.Tyr80ValfsTer?) | |
15 | g.90088412C>A | CA393801985 | IDH2 | c.625G>T (p.Val209Leu) c.469G>T (p.Val157Leu) c.298G>T (p.Val100Leu) c.*250G>T (n.*250G>T) c.235G>T (p.Val79Leu) | |
15 | g.90088412C>G | CA393801986 | IDH2 | c.625G>C (p.Val209Leu) c.469G>C (p.Val157Leu) c.298G>C (p.Val100Leu) c.*250G>C (n.*250G>C) c.235G>C (p.Val79Leu) | |
15 | g.90088412C>T | CA393801987 | IDH2 | c.625G>A (p.Val209Met) c.469G>A (p.Val157Met) c.298G>A (p.Val100Met) c.*250G>A (n.*250G>A) c.235G>A (p.Val79Met) | |
15 | g.90088413T>A | CA393801988 | IDH2 | c.624A>T (p.Glu208Asp) c.468A>T (p.Glu156Asp) c.297A>T (p.Glu99Asp) c.*249A>T (n.*249A>T) c.234A>T (p.Glu78Asp) | |
15 | g.90088413T>C | CA492297453 | IDH2 | c.624A>G (p.Glu208=) c.468A>G (p.Glu156=) c.297A>G (p.Glu99=) c.*249A>G (n.*249A>G) c.234A>G (p.Glu78=) | gnomAD v4 |
15 | g.90088413T>G | CA393801989 | IDH2 | c.624A>C (p.Glu208Asp) c.468A>C (p.Glu156Asp) c.297A>C (p.Glu99Asp) c.*249A>C (n.*249A>C) c.234A>C (p.Glu78Asp) | |
15 | g.90088414T>A | CA393801992 | IDH2 | c.623A>T (p.Glu208Val) c.467A>T (p.Glu156Val) c.296A>T (p.Glu99Val) c.*248A>T (n.*248A>T) c.233A>T (p.Glu78Val) | |
15 | g.90088414T>C | CA393801990 | IDH2 | c.623A>G (p.Glu208Gly) c.467A>G (p.Glu156Gly) c.296A>G (p.Glu99Gly) c.*248A>G (n.*248A>G) c.233A>G (p.Glu78Gly) | |
15 | g.90088414T>G | CA393801991 | IDH2 | c.623A>C (p.Glu208Ala) c.467A>C (p.Glu156Ala) c.296A>C (p.Glu99Ala) c.*248A>C (n.*248A>C) c.233A>C (p.Glu78Ala) | |
15 | g.90088415C>A | CA393801993 | IDH2 | c.622G>T (p.Glu208Ter) c.466G>T (p.Glu156Ter) c.295G>T (p.Glu99Ter) c.*247G>T (n.*247G>T) c.232G>T (p.Glu78Ter) | COSMIC |
15 | g.90088415C= | CA2194954343 | IDH2 | c.622G= (p.Glu208=) c.466G= (p.Glu156=) c.295G= (p.Glu99=) c.*247G= (n.*247G=) c.232G= (p.Glu78=) | |
15 | g.90088415C>G | CA393801994 | IDH2 | c.622G>C (p.Glu208Gln) c.466G>C (p.Glu156Gln) c.295G>C (p.Glu99Gln) c.*247G>C (n.*247G>C) c.232G>C (p.Glu78Gln) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.90088415C>T | CA7733126 | IDH2 | c.622G>A (p.Glu208Lys) c.466G>A (p.Glu156Lys) c.295G>A (p.Glu99Lys) c.*247G>A (n.*247G>A) c.232G>A (p.Glu78Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.90088416C>A | CA393801995 | IDH2 | c.621G>T (p.Trp207Cys) c.465G>T (p.Trp155Cys) c.294G>T (p.Trp98Cys) c.*246G>T (n.*246G>T) c.231G>T (p.Trp77Cys) | |
15 | g.90088416C>G | CA393801996 | IDH2 | c.621G>C (p.Trp207Cys) c.465G>C (p.Trp155Cys) c.294G>C (p.Trp98Cys) c.*246G>C (n.*246G>C) c.231G>C (p.Trp77Cys) | |
15 | g.90088416C>T | CA393801997 | IDH2 | c.621G>A (p.Trp207Ter) c.465G>A (p.Trp155Ter) c.294G>A (p.Trp98Ter) c.*246G>A (n.*246G>A) c.231G>A (p.Trp77Ter) | dbSNP gnomAD v4 |
15 | g.90088417C>A | CA393801998 | IDH2 | c.620G>T (p.Trp207Leu) c.464G>T (p.Trp155Leu) c.293G>T (p.Trp98Leu) c.*245G>T (n.*245G>T) c.230G>T (p.Trp77Leu) | |
15 | g.90088417C>G | CA393801999 | IDH2 | c.620G>C (p.Trp207Ser) c.464G>C (p.Trp155Ser) c.293G>C (p.Trp98Ser) c.*245G>C (n.*245G>C) c.230G>C (p.Trp77Ser) | |
15 | g.90088417C>T | CA393802000 | IDH2 | c.620G>A (p.Trp207Ter) c.464G>A (p.Trp155Ter) c.293G>A (p.Trp98Ter) c.*245G>A (n.*245G>A) c.230G>A (p.Trp77Ter) | gnomAD v4 |
15 | g.90088418A>C | CA393802001 | IDH2 | c.619T>G (p.Trp207Gly) c.463T>G (p.Trp155Gly) c.292T>G (p.Trp98Gly) c.*244T>G (n.*244T>G) c.229T>G (p.Trp77Gly) | dbSNP |
15 | g.90088418A>G | CA393802002 | IDH2 | c.619T>C (p.Trp207Arg) c.463T>C (p.Trp155Arg) c.292T>C (p.Trp98Arg) c.*244T>C (n.*244T>C) c.229T>C (p.Trp77Arg) | |
15 | g.90088418A>T | CA393802003 | IDH2 | c.619T>A (p.Trp207Arg) c.463T>A (p.Trp155Arg) c.292T>A (p.Trp98Arg) c.*244T>A (n.*244T>A) c.229T>A (p.Trp77Arg) | dbSNP |
15 | g.90088419C>A | CA393802004 | IDH2 | c.618G>T (p.Glu206Asp) c.462G>T (p.Glu154Asp) c.291G>T (p.Glu97Asp) c.*243G>T (n.*243G>T) c.228G>T (p.Glu76Asp) | |
15 | g.90088419C= | CA2194954344 | IDH2 | c.618G= (p.Glu206=) c.462G= (p.Glu154=) c.291G= (p.Glu97=) c.*243G= (n.*243G=) c.228G= (p.Glu76=) | |
15 | g.90088419C>G | CA393802005 | IDH2 | c.618G>C (p.Glu206Asp) c.462G>C (p.Glu154Asp) c.291G>C (p.Glu97Asp) c.*243G>C (n.*243G>C) c.228G>C (p.Glu76Asp) | |
15 | g.90088419C>T | CA7733127 | IDH2 | c.618G>A (p.Glu206=) c.462G>A (p.Glu154=) c.291G>A (p.Glu97=) c.*243G>A (n.*243G>A) c.228G>A (p.Glu76=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.90088420T>A | CA7733128 | IDH2 | c.617A>T (p.Glu206Val) c.461A>T (p.Glu154Val) c.290A>T (p.Glu97Val) c.*242A>T (n.*242A>T) c.227A>T (p.Glu76Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.90088420T>C | CA393802006 | IDH2 | c.617A>G (p.Glu206Gly) c.461A>G (p.Glu154Gly) c.290A>G (p.Glu97Gly) c.*242A>G (n.*242A>G) c.227A>G (p.Glu76Gly) | |
15 | g.90088420T>G | CA393802007 | IDH2 | c.617A>C (p.Glu206Ala) c.461A>C (p.Glu154Ala) c.290A>C (p.Glu97Ala) c.*242A>C (n.*242A>C) c.227A>C (p.Glu76Ala) | |
15 | g.90088420T= | CA2194954345 | IDH2 | c.617A= (p.Glu206=) c.461A= (p.Glu154=) c.290A= (p.Glu97=) c.*242A= (n.*242A=) c.227A= (p.Glu76=) | |
15 | g.90088421C>A | CA7733129 | IDH2 | c.616G>T (p.Glu206Ter) c.460G>T (p.Glu154Ter) c.289G>T (p.Glu97Ter) c.*241G>T (n.*241G>T) c.226G>T (p.Glu76Ter) | dbSNP ExAC gnomAD v2 |
15 | g.90088421C= | CA2194954346 | IDH2 | c.616G= (p.Glu206=) c.460G= (p.Glu154=) c.289G= (p.Glu97=) c.*241G= (n.*241G=) c.226G= (p.Glu76=) | |
15 | g.90088421C>G | CA393802008 | IDH2 | c.616G>C (p.Glu206Gln) c.460G>C (p.Glu154Gln) c.289G>C (p.Glu97Gln) c.*241G>C (n.*241G>C) c.226G>C (p.Glu76Gln) | |
15 | g.90088421C>T | CA393802009 | IDH2 | c.616G>A (p.Glu206Lys) c.460G>A (p.Glu154Lys) c.289G>A (p.Glu97Lys) c.*241G>A (n.*241G>A) c.226G>A (p.Glu76Lys) | |
15 | g.90088422C>A | CA393802010 | IDH2 | c.615G>T (p.Lys205Asn) c.459G>T (p.Lys153Asn) c.288G>T (p.Lys96Asn) c.*240G>T (n.*240G>T) c.225G>T (p.Lys75Asn) | dbSNP |
15 | g.90088422C= | CA2194954347 | IDH2 | c.615G= (p.Lys205=) c.459G= (p.Lys153=) c.288G= (p.Lys96=) c.*240G= (n.*240G=) c.225G= (p.Lys75=) | |
15 | g.90088422C>G | CA393802011 | IDH2 | c.615G>C (p.Lys205Asn) c.459G>C (p.Lys153Asn) c.288G>C (p.Lys96Asn) c.*240G>C (n.*240G>C) c.225G>C (p.Lys75Asn) | dbSNP gnomAD v4 |
15 | g.90088422C>T | CA492297465 | IDH2 | c.615G>A (p.Lys205=) c.459G>A (p.Lys153=) c.288G>A (p.Lys96=) c.*240G>A (n.*240G>A) c.225G>A (p.Lys75=) | dbSNP |
15 | g.90088423T>A | CA393802012 | IDH2 | c.614A>T (p.Lys205Met) c.458A>T (p.Lys153Met) c.287A>T (p.Lys96Met) c.*239A>T (n.*239A>T) c.224A>T (p.Lys75Met) | |
15 | g.90088423T>C | CA393802013 | IDH2 | c.614A>G (p.Lys205Arg) c.458A>G (p.Lys153Arg) c.287A>G (p.Lys96Arg) c.*239A>G (n.*239A>G) c.224A>G (p.Lys75Arg) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.90088423T>G | CA393802014 | IDH2 | c.614A>C (p.Lys205Thr) c.458A>C (p.Lys153Thr) c.287A>C (p.Lys96Thr) c.*239A>C (n.*239A>C) c.224A>C (p.Lys75Thr) | |
15 | g.90088423T= | CA2194954348 | IDH2 | c.614A= (p.Lys205=) c.458A= (p.Lys153=) c.287A= (p.Lys96=) c.*239A= (n.*239A=) c.224A= (p.Lys75=) | |
15 | g.90088424T>A | CA393802017 | IDH2 | c.613A>T (p.Lys205Ter) c.457A>T (p.Lys153Ter) c.286A>T (p.Lys96Ter) c.*238A>T (n.*238A>T) c.223A>T (p.Lys75Ter) | |
15 | g.90088424T>C | CA393802016 | IDH2 | c.613A>G (p.Lys205Glu) c.457A>G (p.Lys153Glu) c.286A>G (p.Lys96Glu) c.*238A>G (n.*238A>G) c.223A>G (p.Lys75Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.90088424T>G | CA393802015 | IDH2 | c.613A>C (p.Lys205Gln) c.457A>C (p.Lys153Gln) c.286A>C (p.Lys96Gln) c.*238A>C (n.*238A>C) c.223A>C (p.Lys75Gln) | |
15 | g.90088424T= | CA2194954349 | IDH2 | c.613A= (p.Lys205=) c.457A= (p.Lys153=) c.286A= (p.Lys96=) c.*238A= (n.*238A=) c.223A= (p.Lys75=) | |
15 | g.90088425G>A | CA492297468 | IDH2 | c.612C>T (p.Val204=) c.456C>T (p.Val152=) c.285C>T (p.Val95=) c.*237C>T (n.*237C>T) c.222C>T (p.Val74=) | |
15 | g.90088425G>C | CA492297469 | IDH2 | c.612C>G (p.Val204=) c.456C>G (p.Val152=) c.285C>G (p.Val95=) c.*237C>G (n.*237C>G) c.222C>G (p.Val74=) | dbSNP |
15 | g.90088425G>T | CA492297471 | IDH2 | c.612C>A (p.Val204=) c.456C>A (p.Val152=) c.285C>A (p.Val95=) c.*237C>A (n.*237C>A) c.222C>A (p.Val74=) | |
15 | g.90088426A= | CA2194954350 | IDH2 | c.611T= (p.Val204=) c.455T= (p.Val152=) c.284T= (p.Val95=) c.*236T= (n.*236T=) c.221T= (p.Val74=) | |
15 | g.90088426A>C | CA393802018 | IDH2 | c.611T>G (p.Val204Gly) c.455T>G (p.Val152Gly) c.284T>G (p.Val95Gly) c.*236T>G (n.*236T>G) c.221T>G (p.Val74Gly) | |
15 | g.90088426A>G | CA393802019 | IDH2 | c.611T>C (p.Val204Ala) c.455T>C (p.Val152Ala) c.284T>C (p.Val95Ala) c.*236T>C (n.*236T>C) c.221T>C (p.Val74Ala) | dbSNP |
15 | g.90088426A>T | CA393802020 | IDH2 | c.611T>A (p.Val204Asp) c.455T>A (p.Val152Asp) c.284T>A (p.Val95Asp) c.*236T>A (n.*236T>A) c.221T>A (p.Val74Asp) | dbSNP |
15 | g.90088427C>A | CA393802021 | IDH2 | c.610G>T (p.Val204Phe) c.454G>T (p.Val152Phe) c.283G>T (p.Val95Phe) c.*235G>T (n.*235G>T) c.220G>T (p.Val74Phe) | |
15 | g.90088427C= | CA2194954351 | IDH2 | c.610G= (p.Val204=) c.454G= (p.Val152=) c.283G= (p.Val95=) c.*235G= (n.*235G=) c.220G= (p.Val74=) | |
15 | g.90088427C>G | CA393802022 | IDH2 | c.610G>C (p.Val204Leu) c.454G>C (p.Val152Leu) c.283G>C (p.Val95Leu) c.*235G>C (n.*235G>C) c.220G>C (p.Val74Leu) | |
15 | g.90088427C>T | CA393802023 | IDH2 | c.610G>A (p.Val204Ile) c.454G>A (p.Val152Ile) c.283G>A (p.Val95Ile) c.*235G>A (n.*235G>A) c.220G>A (p.Val74Ile) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.90088428A>C | CA492297473 | IDH2 | c.609T>G (p.Gly203=) c.453T>G (p.Gly151=) c.282T>G (p.Gly94=) c.*234T>G (n.*234T>G) c.219T>G (p.Gly73=) | |
15 | g.90088428A>G | CA492297474 | IDH2 | c.609T>C (p.Gly203=) c.453T>C (p.Gly151=) c.282T>C (p.Gly94=) c.*234T>C (n.*234T>C) c.219T>C (p.Gly73=) | gnomAD v4 |
15 | g.90088428A>T | CA492297475 | IDH2 | c.609T>A (p.Gly203=) c.453T>A (p.Gly151=) c.282T>A (p.Gly94=) c.*234T>A (n.*234T>A) c.219T>A (p.Gly73=) | |
15 | g.90088429C>A | CA393802024 | IDH2 | c.608G>T (p.Gly203Val) c.452G>T (p.Gly151Val) c.281G>T (p.Gly94Val) c.*233G>T (n.*233G>T) c.218G>T (p.Gly73Val) | |
15 | g.90088429C= | CA2194954352 | IDH2 | c.608G= (p.Gly203=) c.452G= (p.Gly151=) c.281G= (p.Gly94=) c.*233G= (n.*233G=) c.218G= (p.Gly73=) | |
15 | g.90088429C>G | CA393802025 | IDH2 | c.608G>C (p.Gly203Ala) c.452G>C (p.Gly151Ala) c.281G>C (p.Gly94Ala) c.*233G>C (n.*233G>C) c.218G>C (p.Gly73Ala) | gnomAD v4 |
15 | g.90088429C>T | CA7733130 | IDH2 | c.608G>A (p.Gly203Asp) c.452G>A (p.Gly151Asp) c.281G>A (p.Gly94Asp) c.*233G>A (n.*233G>A) c.218G>A (p.Gly73Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.90088430C>A | CA393802026 | IDH2 | c.607G>T (p.Gly203Cys) c.451G>T (p.Gly151Cys) c.280G>T (p.Gly94Cys) c.*232G>T (n.*232G>T) c.217G>T (p.Gly73Cys) | dbSNP |
15 | g.90088430C>G | CA393802027 | IDH2 | c.607G>C (p.Gly203Arg) c.451G>C (p.Gly151Arg) c.280G>C (p.Gly94Arg) c.*232G>C (n.*232G>C) c.217G>C (p.Gly73Arg) | |
15 | g.90088430C>T | CA393802028 | IDH2 | c.607G>A (p.Gly203Ser) c.451G>A (p.Gly151Ser) c.280G>A (p.Gly94Ser) c.*232G>A (n.*232G>A) c.217G>A (p.Gly73Ser) | dbSNP |
15 | g.90088431A>C | CA393802030 | IDH2 | c.606T>G (p.Ser202Arg) c.450T>G (p.Ser150Arg) c.279T>G (p.Ser93Arg) c.*231T>G (n.*231T>G) c.216T>G (p.Ser72Arg) | |
15 | g.90088431A>G | CA492297477 | IDH2 | c.606T>C (p.Ser202=) c.450T>C (p.Ser150=) c.279T>C (p.Ser93=) c.*231T>C (n.*231T>C) c.216T>C (p.Ser72=) | dbSNP |
15 | g.90088431A>T | CA393802029 | IDH2 | c.606T>A (p.Ser202Arg) c.450T>A (p.Ser150Arg) c.279T>A (p.Ser93Arg) c.*231T>A (n.*231T>A) c.216T>A (p.Ser72Arg) | gnomAD v4 |
15 | g.90088432C>A | CA393802031 | IDH2 | c.605G>T (p.Ser202Ile) c.449G>T (p.Ser150Ile) c.278G>T (p.Ser93Ile) c.*230G>T (n.*230G>T) c.215G>T (p.Ser72Ile) | gnomAD v4 |
15 | g.90088432C= | CA2194954353 | IDH2 | c.605G= (p.Ser202=) c.449G= (p.Ser150=) c.278G= (p.Ser93=) c.*230G= (n.*230G=) c.215G= (p.Ser72=) | |
15 | g.90088432C>G | CA393802032 | IDH2 | c.605G>C (p.Ser202Thr) c.449G>C (p.Ser150Thr) c.278G>C (p.Ser93Thr) c.*230G>C (n.*230G>C) c.215G>C (p.Ser72Thr) | |
15 | g.90088432C>T | CA274623634 | IDH2 | c.605G>A (p.Ser202Asn) c.449G>A (p.Ser150Asn) c.278G>A (p.Ser93Asn) c.*230G>A (n.*230G>A) c.215G>A (p.Ser72Asn) | dbSNP |
15 | g.90088433T>A | CA7733131 | IDH2 | c.604A>T (p.Ser202Cys) c.448A>T (p.Ser150Cys) c.277A>T (p.Ser93Cys) c.*229A>T (n.*229A>T) c.214A>T (p.Ser72Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.90088433T>C | CA393802033 | IDH2 | c.604A>G (p.Ser202Gly) c.448A>G (p.Ser150Gly) c.277A>G (p.Ser93Gly) c.*229A>G (n.*229A>G) c.214A>G (p.Ser72Gly) | |
15 | g.90088433T>G | CA393802034 | IDH2 | c.604A>C (p.Ser202Arg) c.448A>C (p.Ser150Arg) c.277A>C (p.Ser93Arg) c.*229A>C (n.*229A>C) c.214A>C (p.Ser72Arg) | |
15 | g.90088433T= | CA2194954354 | IDH2 | c.604A= (p.Ser202=) c.448A= (p.Ser150=) c.277A= (p.Ser93=) c.*229A= (n.*229A=) c.214A= (p.Ser72=) | |
15 | g.90088434G>A | CA492297485 | IDH2 | c.603C>T (p.Gly201=) c.447C>T (p.Gly149=) c.276C>T (p.Gly92=) c.*228C>T (n.*228C>T) c.213C>T (p.Gly71=) | dbSNP gnomAD v4 |
15 | g.90088434G>C | CA492297482 | IDH2 | c.603C>G (p.Gly201=) c.447C>G (p.Gly149=) c.276C>G (p.Gly92=) c.*228C>G (n.*228C>G) c.213C>G (p.Gly71=) | dbSNP |
15 | g.90088434G>T | CA492297484 | IDH2 | c.603C>A (p.Gly201=) c.447C>A (p.Gly149=) c.276C>A (p.Gly92=) c.*228C>A (n.*228C>A) c.213C>A (p.Gly71=) | |
15 | g.90088435C>A | CA393802035 | IDH2 | c.602G>T (p.Gly201Val) c.446G>T (p.Gly149Val) c.275G>T (p.Gly92Val) c.*227G>T (n.*227G>T) c.212G>T (p.Gly71Val) | dbSNP |
15 | g.90088435C>G | CA393802036 | IDH2 | c.602G>C (p.Gly201Ala) c.446G>C (p.Gly149Ala) c.275G>C (p.Gly92Ala) c.*227G>C (n.*227G>C) c.212G>C (p.Gly71Ala) | |
15 | g.90088435C>T | CA393802037 | IDH2 | c.602G>A (p.Gly201Asp) c.446G>A (p.Gly149Asp) c.275G>A (p.Gly92Asp) c.*227G>A (n.*227G>A) c.212G>A (p.Gly71Asp) | |
15 | g.90088436C>A | CA393802038 | IDH2 | c.601G>T (p.Gly201Cys) c.445G>T (p.Gly149Cys) c.274G>T (p.Gly92Cys) c.*226G>T (n.*226G>T) c.211G>T (p.Gly71Cys) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.90088436C= | CA2194954355 | IDH2 | c.601G= (p.Gly201=) c.445G= (p.Gly149=) c.274G= (p.Gly92=) c.*226G= (n.*226G=) c.211G= (p.Gly71=) | |
15 | g.90088436C>G | CA393802039 | IDH2 | c.601G>C (p.Gly201Arg) c.445G>C (p.Gly149Arg) c.274G>C (p.Gly92Arg) c.*226G>C (n.*226G>C) c.211G>C (p.Gly71Arg) | |
15 | g.90088436C>T | CA393802040 | IDH2 | c.601G>A (p.Gly201Ser) c.445G>A (p.Gly149Ser) c.274G>A (p.Gly92Ser) c.*226G>A (n.*226G>A) c.211G>A (p.Gly71Ser) | |
15 | g.90088437A>C | CA393802041 | IDH2 | c.600T>G (p.Asp200Glu) c.444T>G (p.Asp148Glu) c.273T>G (p.Asp91Glu) c.*225T>G (n.*225T>G) c.210T>G (p.Asp70Glu) | |
15 | g.90088437A>G | CA492297490 | IDH2 | c.600T>C (p.Asp200=) c.444T>C (p.Asp148=) c.273T>C (p.Asp91=) c.*225T>C (n.*225T>C) c.210T>C (p.Asp70=) | |
15 | g.90088437A>T | CA393802042 | IDH2 | c.600T>A (p.Asp200Glu) c.444T>A (p.Asp148Glu) c.273T>A (p.Asp91Glu) c.*225T>A (n.*225T>A) c.210T>A (p.Asp70Glu) | dbSNP |
15 | g.90088438T>A | CA393802045 | IDH2 | c.599A>T (p.Asp200Val) c.443A>T (p.Asp148Val) c.272A>T (p.Asp91Val) c.*224A>T (n.*224A>T) c.209A>T (p.Asp70Val) | |
15 | g.90088438T>C | CA393802043 | IDH2 | c.599A>G (p.Asp200Gly) c.443A>G (p.Asp148Gly) c.272A>G (p.Asp91Gly) c.*224A>G (n.*224A>G) c.209A>G (p.Asp70Gly) | |
15 | g.90088438T>G | CA393802044 | IDH2 | c.599A>C (p.Asp200Ala) c.443A>C (p.Asp148Ala) c.272A>C (p.Asp91Ala) c.*224A>C (n.*224A>C) c.209A>C (p.Asp70Ala) | |
15 | g.90088439C>A | CA393802046 | IDH2 | c.598G>T (p.Asp200Tyr) c.442G>T (p.Asp148Tyr) c.271G>T (p.Asp91Tyr) c.*223G>T (n.*223G>T) c.208G>T (p.Asp70Tyr) | |
15 | g.90088439C>G | CA393802047 | IDH2 | c.598G>C (p.Asp200His) c.442G>C (p.Asp148His) c.271G>C (p.Asp91His) c.*223G>C (n.*223G>C) c.208G>C (p.Asp70His) | |
15 | g.90088439C>T | CA393802048 | IDH2 | c.598G>A (p.Asp200Asn) c.442G>A (p.Asp148Asn) c.271G>A (p.Asp91Asn) c.*223G>A (n.*223G>A) c.208G>A (p.Asp70Asn) | gnomAD v4 |
15 | g.90088440T>A | CA393802049 | IDH2 | c.597A>T (p.Lys199Asn) c.441A>T (p.Lys147Asn) c.270A>T (p.Lys90Asn) c.*222A>T (n.*222A>T) c.207A>T (p.Lys69Asn) | |
15 | g.90088440T>C | CA492297497 | IDH2 | c.597A>G (p.Lys199=) c.441A>G (p.Lys147=) c.270A>G (p.Lys90=) c.*222A>G (n.*222A>G) c.207A>G (p.Lys69=) | |
15 | g.90088440T>G | CA393802050 | IDH2 | c.597A>C (p.Lys199Asn) c.441A>C (p.Lys147Asn) c.270A>C (p.Lys90Asn) c.*222A>C (n.*222A>C) c.207A>C (p.Lys69Asn) | |
15 | g.90088443del | CA2731555569 | IDH2 | c.597del (p.Asp200MetfsTer?) c.441del (p.Asp148MetfsTer?) c.270del (p.Asp91MetfsTer?) c.*222del (n.*222del) c.207del (p.Asp70MetfsTer?) | dbSNP |
15 | g.90088441T>A | CA393802051 | IDH2 | c.596A>T (p.Lys199Ile) c.440A>T (p.Lys147Ile) c.269A>T (p.Lys90Ile) c.*221A>T (n.*221A>T) c.206A>T (p.Lys69Ile) | |
15 | g.90088441T>C | CA393802052 | IDH2 | c.596A>G (p.Lys199Arg) c.440A>G (p.Lys147Arg) c.269A>G (p.Lys90Arg) c.*221A>G (n.*221A>G) c.206A>G (p.Lys69Arg) | |
15 | g.90088441T>G | CA393802053 | IDH2 | c.596A>C (p.Lys199Thr) c.440A>C (p.Lys147Thr) c.269A>C (p.Lys90Thr) c.*221A>C (n.*221A>C) c.206A>C (p.Lys69Thr) | |
15 | g.90088442T>A | CA393802054 | IDH2 | c.595A>T (p.Lys199Ter) c.439A>T (p.Lys147Ter) c.268A>T (p.Lys90Ter) c.*220A>T (n.*220A>T) c.205A>T (p.Lys69Ter) | |
15 | g.90088442T>C | CA393802055 | IDH2 | c.595A>G (p.Lys199Glu) c.439A>G (p.Lys147Glu) c.268A>G (p.Lys90Glu) c.*220A>G (n.*220A>G) c.205A>G (p.Lys69Glu) | gnomAD v4 |
15 | g.90088442T>G | CA393802056 | IDH2 | c.595A>C (p.Lys199Gln) c.439A>C (p.Lys147Gln) c.268A>C (p.Lys90Gln) c.*220A>C (n.*220A>C) c.205A>C (p.Lys69Gln) | |
15 | g.90088443T>A | CA492297502 | IDH2 | c.594A>T (p.Pro198=) c.438A>T (p.Pro146=) c.267A>T (p.Pro89=) c.*219A>T (n.*219A>T) c.204A>T (p.Pro68=) | |
15 | g.90088443T>C | CA492297504 | IDH2 | c.594A>G (p.Pro198=) c.438A>G (p.Pro146=) c.267A>G (p.Pro89=) c.*219A>G (n.*219A>G) c.204A>G (p.Pro68=) | |
15 | g.90088443T>G | CA492297505 | IDH2 | c.594A>C (p.Pro198=) c.438A>C (p.Pro146=) c.267A>C (p.Pro89=) c.*219A>C (n.*219A>C) c.204A>C (p.Pro68=) | |
15 | g.90088444G>A | CA393802058 | IDH2 | c.593C>T (p.Pro198Leu) c.437C>T (p.Pro146Leu) c.266C>T (p.Pro89Leu) c.*218C>T (n.*218C>T) c.203C>T (p.Pro68Leu) | dbSNP gnomAD v4 |
15 | g.90088444G>C | CA393802059 | IDH2 | c.593C>G (p.Pro198Arg) c.437C>G (p.Pro146Arg) c.266C>G (p.Pro89Arg) c.*218C>G (n.*218C>G) c.203C>G (p.Pro68Arg) | |
15 | g.90088444G= | CA2194954356 | IDH2 | c.593C= (p.Pro198=) c.437C= (p.Pro146=) c.266C= (p.Pro89=) c.*218C= (n.*218C=) c.203C= (p.Pro68=) | |
15 | g.90088444G>T | CA393802057 | IDH2 | c.593C>A (p.Pro198Gln) c.437C>A (p.Pro146Gln) c.266C>A (p.Pro89Gln) c.*218C>A (n.*218C>A) c.203C>A (p.Pro68Gln) | |
15 | g.90088445G>A | CA393802060 | IDH2 | c.592C>T (p.Pro198Ser) c.436C>T (p.Pro146Ser) c.265C>T (p.Pro89Ser) c.*217C>T (n.*217C>T) c.202C>T (p.Pro68Ser) | dbSNP gnomAD v4 |
15 | g.90088445G>C | CA393802061 | IDH2 | c.592C>G (p.Pro198Ala) c.436C>G (p.Pro146Ala) c.265C>G (p.Pro89Ala) c.*217C>G (n.*217C>G) c.202C>G (p.Pro68Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.90088445G= | CA2194954357 | IDH2 | c.592C= (p.Pro198=) c.436C= (p.Pro146=) c.265C= (p.Pro89=) c.*217C= (n.*217C=) c.202C= (p.Pro68=) | |
15 | g.90088445G>T | CA393802062 | IDH2 | c.592C>A (p.Pro198Thr) c.436C>A (p.Pro146Thr) c.265C>A (p.Pro89Thr) c.*217C>A (n.*217C>A) c.202C>A (p.Pro68Thr) | gnomAD v4 |
15 | g.90088446G>A | CA7733132 | IDH2 | c.591C>T (p.Thr197=) c.435C>T (p.Thr145=) c.264C>T (p.Thr88=) c.*216C>T (n.*216C>T) c.201C>T (p.Thr67=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.90088446G>C | CA274623653 | IDH2 | c.591C>G (p.Thr197=) c.435C>G (p.Thr145=) c.264C>G (p.Thr88=) c.*216C>G (n.*216C>G) c.201C>G (p.Thr67=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.90088446G= | CA2194954358 | IDH2 | c.591C= (p.Thr197=) c.435C= (p.Thr145=) c.264C= (p.Thr88=) c.*216C= (n.*216C=) c.201C= (p.Thr67=) | |
15 | g.90088446G>T | CA492297510 | IDH2 | c.591C>A (p.Thr197=) c.435C>A (p.Thr145=) c.264C>A (p.Thr88=) c.*216C>A (n.*216C>A) c.201C>A (p.Thr67=) | |
15 | g.90088447G>A | CA7733134 | IDH2 | c.590C>T (p.Thr197Ile) c.434C>T (p.Thr145Ile) c.263C>T (p.Thr88Ile) c.*215C>T (n.*215C>T) c.200C>T (p.Thr67Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.90088447G>C | CA393802063 | IDH2 | c.590C>G (p.Thr197Ser) c.434C>G (p.Thr145Ser) c.263C>G (p.Thr88Ser) c.*215C>G (n.*215C>G) c.200C>G (p.Thr67Ser) | |
15 | g.90088447G= | CA2194954359 | IDH2 | c.590C= (p.Thr197=) c.434C= (p.Thr145=) c.263C= (p.Thr88=) c.*215C= (n.*215C=) c.200C= (p.Thr67=) | |
15 | g.90088447G>T | CA7733133 | IDH2 | c.590C>A (p.Thr197Asn) c.434C>A (p.Thr145Asn) c.263C>A (p.Thr88Asn) c.*215C>A (n.*215C>A) c.200C>A (p.Thr67Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.90088448T>A | CA393802064 | IDH2 | c.589A>T (p.Thr197Ser) c.433A>T (p.Thr145Ser) c.262A>T (p.Thr88Ser) c.*214A>T (n.*214A>T) c.199A>T (p.Thr67Ser) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.90088448T>C | CA393802065 | IDH2 | c.589A>G (p.Thr197Ala) c.433A>G (p.Thr145Ala) c.262A>G (p.Thr88Ala) c.*214A>G (n.*214A>G) c.199A>G (p.Thr67Ala) | |
15 | g.90088448T>G | CA393802066 | IDH2 | c.589A>C (p.Thr197Pro) c.433A>C (p.Thr145Pro) c.262A>C (p.Thr88Pro) c.*214A>C (n.*214A>C) c.199A>C (p.Thr67Pro) | |
15 | g.90088448T= | CA2194954360 | IDH2 | c.589A= (p.Thr197=) c.433A= (p.Thr145=) c.262A= (p.Thr88=) c.*214A= (n.*214A=) c.199A= (p.Thr67=) | |
15 | g.90088449G>A | CA7733135 | IDH2 | c.588C>T (p.Phe196=) c.432C>T (p.Phe144=) c.261C>T (p.Phe87=) c.*213C>T (n.*213C>T) c.198C>T (p.Phe66=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.90088449G>C | CA7733136 | IDH2 | c.588C>G (p.Phe196Leu) c.432C>G (p.Phe144Leu) c.261C>G (p.Phe87Leu) c.*213C>G (n.*213C>G) c.198C>G (p.Phe66Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.90088449G= | CA2194954361 | IDH2 | c.588C= (p.Phe196=) c.432C= (p.Phe144=) c.261C= (p.Phe87=) c.*213C= (n.*213C=) c.198C= (p.Phe66=) | |
15 | g.90088449G>T | CA393802067 | IDH2 | c.588C>A (p.Phe196Leu) c.432C>A (p.Phe144Leu) c.261C>A (p.Phe87Leu) c.*213C>A (n.*213C>A) c.198C>A (p.Phe66Leu) | |
15 | g.90088450A>C | CA393802068 | IDH2 | c.587T>G (p.Phe196Cys) c.431T>G (p.Phe144Cys) c.260T>G (p.Phe87Cys) c.*212T>G (n.*212T>G) c.197T>G (p.Phe66Cys) | |
15 | g.90088450A>G | CA393802070 | IDH2 | c.587T>C (p.Phe196Ser) c.431T>C (p.Phe144Ser) c.260T>C (p.Phe87Ser) c.*212T>C (n.*212T>C) c.197T>C (p.Phe66Ser) | |
15 | g.90088450A>T | CA393802069 | IDH2 | c.587T>A (p.Phe196Tyr) c.431T>A (p.Phe144Tyr) c.260T>A (p.Phe87Tyr) c.*212T>A (n.*212T>A) c.197T>A (p.Phe66Tyr) | |
15 | g.90088451A= | CA2194954362 | IDH2 | c.586T= (p.Phe196=) c.430T= (p.Phe144=) c.259T= (p.Phe87=) c.*211T= (n.*211T=) c.196T= (p.Phe66=) | |
15 | g.90088451A>C | CA393802071 | IDH2 | c.586T>G (p.Phe196Val) c.430T>G (p.Phe144Val) c.259T>G (p.Phe87Val) c.*211T>G (n.*211T>G) c.196T>G (p.Phe66Val) | |
15 | g.90088451A>G | CA274623687 | IDH2 | c.586T>C (p.Phe196Leu) c.430T>C (p.Phe144Leu) c.259T>C (p.Phe87Leu) c.*211T>C (n.*211T>C) c.196T>C (p.Phe66Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.90088451A>T | CA393802072 | IDH2 | c.586T>A (p.Phe196Ile) c.430T>A (p.Phe144Ile) c.259T>A (p.Phe87Ile) c.*211T>A (n.*211T>A) c.196T>A (p.Phe66Ile) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.90088452G>A | CA492297518 | IDH2 | c.585C>T (p.Val195=) c.429C>T (p.Val143=) c.258C>T (p.Val86=) c.*210C>T (n.*210C>T) c.195C>T (p.Val65=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.90088452G>C | CA492297520 | IDH2 | c.585C>G (p.Val195=) c.429C>G (p.Val143=) c.258C>G (p.Val86=) c.*210C>G (n.*210C>G) c.195C>G (p.Val65=) | |
15 | g.90088452G= | CA2194954363 | IDH2 | c.585C= (p.Val195=) c.429C= (p.Val143=) c.258C= (p.Val86=) c.*210C= (n.*210C=) c.195C= (p.Val65=) | |
15 | g.90088452G>T | CA492297521 | IDH2 | c.585C>A (p.Val195=) c.429C>A (p.Val143=) c.258C>A (p.Val86=) c.*210C>A (n.*210C>A) c.195C>A (p.Val65=) | |
15 | g.90088453A= | CA2194954364 | IDH2 | c.584T= (p.Val195=) c.428T= (p.Val143=) c.257T= (p.Val86=) c.*209T= (n.*209T=) c.194T= (p.Val65=) | |
15 | g.90088453A>C | CA393802073 | IDH2 | c.584T>G (p.Val195Gly) c.428T>G (p.Val143Gly) c.257T>G (p.Val86Gly) c.*209T>G (n.*209T>G) c.194T>G (p.Val65Gly) | |
15 | g.90088453A>G | CA393802074 | IDH2 | c.584T>C (p.Val195Ala) c.428T>C (p.Val143Ala) c.257T>C (p.Val86Ala) c.*209T>C (n.*209T>C) c.194T>C (p.Val65Ala) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.90088453A>T | CA393802075 | IDH2 | c.584T>A (p.Val195Asp) c.428T>A (p.Val143Asp) c.257T>A (p.Val86Asp) c.*209T>A (n.*209T>A) c.194T>A (p.Val65Asp) | dbSNP |
15 | g.90088454C>A | CA7733137 | IDH2 | c.583G>T (p.Val195Phe) c.427G>T (p.Val143Phe) c.256G>T (p.Val86Phe) c.*208G>T (n.*208G>T) c.193G>T (p.Val65Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.90088454C= | CA2194954365 | IDH2 | c.583G= (p.Val195=) c.427G= (p.Val143=) c.256G= (p.Val86=) c.*208G= (n.*208G=) c.193G= (p.Val65=) | |
15 | g.90088454C>G | CA393802076 | IDH2 | c.583G>C (p.Val195Leu) c.427G>C (p.Val143Leu) c.256G>C (p.Val86Leu) c.*208G>C (n.*208G>C) c.193G>C (p.Val65Leu) | dbSNP gnomAD v2 |
15 | g.90088454C>T | CA393802077 | IDH2 | c.583G>A (p.Val195Ile) c.427G>A (p.Val143Ile) c.256G>A (p.Val86Ile) c.*208G>A (n.*208G>A) c.193G>A (p.Val65Ile) | COSMIC |
15 | g.90088455C>A | CA393802078 | IDH2 | c.582G>T (p.Met194Ile) c.426G>T (p.Met142Ile) c.255G>T (p.Met85Ile) c.*207G>T (n.*207G>T) c.192G>T (p.Met64Ile) | |
15 | g.90088455C>G | CA393802079 | IDH2 | c.582G>C (p.Met194Ile) c.426G>C (p.Met142Ile) c.255G>C (p.Met85Ile) c.*207G>C (n.*207G>C) c.192G>C (p.Met64Ile) | |
15 | g.90088455C>T | CA393802080 | IDH2 | c.582G>A (p.Met194Ile) c.426G>A (p.Met142Ile) c.255G>A (p.Met85Ile) c.*207G>A (n.*207G>A) c.192G>A (p.Met64Ile) | ClinVar |
15 | g.90088456A>C | CA393802083 | IDH2 | c.581T>G (p.Met194Arg) c.425T>G (p.Met142Arg) c.254T>G (p.Met85Arg) c.*206T>G (n.*206T>G) c.191T>G (p.Met64Arg) | |
15 | g.90088456A>G | CA393802082 | IDH2 | c.581T>C (p.Met194Thr) c.425T>C (p.Met142Thr) c.254T>C (p.Met85Thr) c.*206T>C (n.*206T>C) c.191T>C (p.Met64Thr) | |
15 | g.90088456A>T | CA393802081 | IDH2 | c.581T>A (p.Met194Lys) c.425T>A (p.Met142Lys) c.254T>A (p.Met85Lys) c.*206T>A (n.*206T>A) c.191T>A (p.Met64Lys) | |
15 | g.90088457T>A | CA393802084 | IDH2 | c.580A>T (p.Met194Leu) c.424A>T (p.Met142Leu) c.253A>T (p.Met85Leu) c.*205A>T (n.*205A>T) c.190A>T (p.Met64Leu) | |
15 | g.90088457T>C | CA7733138 | IDH2 | c.580A>G (p.Met194Val) c.424A>G (p.Met142Val) c.253A>G (p.Met85Val) c.*205A>G (n.*205A>G) c.190A>G (p.Met64Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.90088457T>G | CA393802085 | IDH2 | c.580A>C (p.Met194Leu) c.424A>C (p.Met142Leu) c.253A>C (p.Met85Leu) c.*205A>C (n.*205A>C) c.190A>C (p.Met64Leu) | |
15 | g.90088457T= | CA2194954366 | IDH2 | c.580A= (p.Met194=) c.424A= (p.Met142=) c.253A= (p.Met85=) c.*205A= (n.*205A=) c.190A= (p.Met64=) | |
15 | g.90088458T>A | CA393802086 | IDH2 | c.579A>T (p.Lys193Asn) c.423A>T (p.Lys141Asn) c.252A>T (p.Lys84Asn) c.*204A>T (n.*204A>T) c.189A>T (p.Lys63Asn) | |
15 | g.90088458T>C | CA492297916 | IDH2 | c.579A>G (p.Lys193=) c.423A>G (p.Lys141=) c.252A>G (p.Lys84=) c.*204A>G (n.*204A>G) c.189A>G (p.Lys63=) | |
15 | g.90088458T>G | CA393802087 | IDH2 | c.579A>C (p.Lys193Asn) c.423A>C (p.Lys141Asn) c.252A>C (p.Lys84Asn) c.*204A>C (n.*204A>C) c.189A>C (p.Lys63Asn) | |
15 | g.90088459T>A | CA393802088 | IDH2 | c.578A>T (p.Lys193Ile) c.422A>T (p.Lys141Ile) c.251A>T (p.Lys84Ile) c.*203A>T (n.*203A>T) c.188A>T (p.Lys63Ile) | |
15 | g.90088459T>C | CA393802089 | IDH2 | c.578A>G (p.Lys193Arg) c.422A>G (p.Lys141Arg) c.251A>G (p.Lys84Arg) c.*203A>G (n.*203A>G) c.188A>G (p.Lys63Arg) | |
15 | g.90088459T>G | CA393802090 | IDH2 | c.578A>C (p.Lys193Thr) c.422A>C (p.Lys141Thr) c.251A>C (p.Lys84Thr) c.*203A>C (n.*203A>C) c.188A>C (p.Lys63Thr) | |
15 | g.90088460T>A | CA393802091 | IDH2 | c.577A>T (p.Lys193Ter) c.421A>T (p.Lys141Ter) c.250A>T (p.Lys84Ter) c.*202A>T (n.*202A>T) c.187A>T (p.Lys63Ter) | |
15 | g.90088460T>C | CA393802092 | IDH2 | c.577A>G (p.Lys193Glu) c.421A>G (p.Lys141Glu) c.250A>G (p.Lys84Glu) c.*202A>G (n.*202A>G) c.187A>G (p.Lys63Glu) | |
15 | g.90088460T>G | CA393802093 | IDH2 | c.577A>C (p.Lys193Gln) c.421A>C (p.Lys141Gln) c.250A>C (p.Lys84Gln) c.*202A>C (n.*202A>C) c.187A>C (p.Lys63Gln) | |
15 | g.90088461G>A | CA492297921 | IDH2 | c.576C>T (p.Phe192=) c.420C>T (p.Phe140=) c.249C>T (p.Phe83=) c.*201C>T (n.*201C>T) c.186C>T (p.Phe62=) | |
15 | g.90088461G>C | CA393802094 | IDH2 | c.576C>G (p.Phe192Leu) c.420C>G (p.Phe140Leu) c.249C>G (p.Phe83Leu) c.*201C>G (n.*201C>G) c.186C>G (p.Phe62Leu) | |
15 | g.90088461G= | CA2194954367 | IDH2 | c.576C= (p.Phe192=) c.420C= (p.Phe140=) c.249C= (p.Phe83=) c.*201C= (n.*201C=) c.186C= (p.Phe62=) | |
15 | g.90088461G>T | CA393802095 | IDH2 | c.576C>A (p.Phe192Leu) c.420C>A (p.Phe140Leu) c.249C>A (p.Phe83Leu) c.*201C>A (n.*201C>A) c.186C>A (p.Phe62Leu) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.90088462A>C | CA393802096 | IDH2 | c.575T>G (p.Phe192Cys) c.419T>G (p.Phe140Cys) c.248T>G (p.Phe83Cys) c.*200T>G (n.*200T>G) c.185T>G (p.Phe62Cys) | |
15 | g.90088462A>G | CA393802097 | IDH2 | c.575T>C (p.Phe192Ser) c.419T>C (p.Phe140Ser) c.248T>C (p.Phe83Ser) c.*200T>C (n.*200T>C) c.185T>C (p.Phe62Ser) | |
15 | g.90088462A>T | CA393802098 | IDH2 | c.575T>A (p.Phe192Tyr) c.419T>A (p.Phe140Tyr) c.248T>A (p.Phe83Tyr) c.*200T>A (n.*200T>A) c.185T>A (p.Phe62Tyr) | |
15 | g.90088463A>C | CA393802101 | IDH2 | c.574T>G (p.Phe192Val) c.418T>G (p.Phe140Val) c.247T>G (p.Phe83Val) c.*199T>G (n.*199T>G) c.184T>G (p.Phe62Val) | |
15 | g.90088463A>G | CA393802100 | IDH2 | c.574T>C (p.Phe192Leu) c.418T>C (p.Phe140Leu) c.247T>C (p.Phe83Leu) c.*199T>C (n.*199T>C) c.184T>C (p.Phe62Leu) | |
15 | g.90088463A>T | CA393802099 | IDH2 | c.574T>A (p.Phe192Ile) c.418T>A (p.Phe140Ile) c.247T>A (p.Phe83Ile) c.*199T>A (n.*199T>A) c.184T>A (p.Phe62Ile) | |
15 | g.90088464A>C | CA492297927 | IDH2 | c.573T>G (p.Thr191=) c.417T>G (p.Thr139=) c.246T>G (p.Thr82=) c.*198T>G (n.*198T>G) c.183T>G (p.Thr61=) | |
15 | g.90088464A>G | CA492297928 | IDH2 | c.573T>C (p.Thr191=) c.417T>C (p.Thr139=) c.246T>C (p.Thr82=) c.*198T>C (n.*198T>C) c.183T>C (p.Thr61=) | |
15 | g.90088464A>T | CA492297929 | IDH2 | c.573T>A (p.Thr191=) c.417T>A (p.Thr139=) c.246T>A (p.Thr82=) c.*198T>A (n.*198T>A) c.183T>A (p.Thr61=) | |
15 | g.90088465G>A | CA393802102 | IDH2 | c.572C>T (p.Thr191Ile) c.416C>T (p.Thr139Ile) c.245C>T (p.Thr82Ile) c.*197C>T (n.*197C>T) c.182C>T (p.Thr61Ile) | gnomAD v4 |
15 | g.90088465G>C | CA393802103 | IDH2 | c.572C>G (p.Thr191Ser) c.416C>G (p.Thr139Ser) c.245C>G (p.Thr82Ser) c.*197C>G (n.*197C>G) c.182C>G (p.Thr61Ser) | |
15 | g.90088465G>T | CA393802104 | IDH2 | c.572C>A (p.Thr191Asn) c.416C>A (p.Thr139Asn) c.245C>A (p.Thr82Asn) c.*197C>A (n.*197C>A) c.182C>A (p.Thr61Asn) | |
15 | g.90088466T>A | CA393802105 | IDH2 | c.571A>T (p.Thr191Ser) c.415A>T (p.Thr139Ser) c.244A>T (p.Thr82Ser) c.*196A>T (n.*196A>T) c.181A>T (p.Thr61Ser) | |
15 | g.90088466T>C | CA393802106 | IDH2 | c.571A>G (p.Thr191Ala) c.415A>G (p.Thr139Ala) c.244A>G (p.Thr82Ala) c.*196A>G (n.*196A>G) c.181A>G (p.Thr61Ala) | gnomAD v4 |
15 | g.90088466T>G | CA393802107 | IDH2 | c.571A>C (p.Thr191Pro) c.415A>C (p.Thr139Pro) c.244A>C (p.Thr82Pro) c.*196A>C (n.*196A>C) c.181A>C (p.Thr61Pro) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.90088466T= | CA2194954368 | IDH2 | c.571A= (p.Thr191=) c.415A= (p.Thr139=) c.244A= (p.Thr82=) c.*196A= (n.*196A=) c.181A= (p.Thr61=) | |
15 | g.90088467del | CA2575832579 | IDH2 | c.570del (p.Thr191LeufsTer?) c.414del (p.Thr139LeufsTer?) c.243del (p.Thr82LeufsTer?) c.*195del (n.*195del) c.180del (p.Thr61LeufsTer?) | |
15 | g.90088467G>A | CA492297932 | IDH2 | c.570C>T (p.Gly190=) c.414C>T (p.Gly138=) c.243C>T (p.Gly81=) c.*195C>T (n.*195C>T) c.180C>T (p.Gly60=) | |
15 | g.90088467G>C | CA492297933 | IDH2 | c.570C>G (p.Gly190=) c.414C>G (p.Gly138=) c.243C>G (p.Gly81=) c.*195C>G (n.*195C>G) c.180C>G (p.Gly60=) | |
15 | g.90088467G>T | CA492297934 | IDH2 | c.570C>A (p.Gly190=) c.414C>A (p.Gly138=) c.243C>A (p.Gly81=) c.*195C>A (n.*195C>A) c.180C>A (p.Gly60=) | |
15 | g.90088468C>A | CA393802108 | IDH2 | c.569G>T (p.Gly190Val) c.413G>T (p.Gly138Val) c.242G>T (p.Gly81Val) c.*194G>T (n.*194G>T) c.179G>T (p.Gly60Val) | |
15 | g.90088468C= | CA2194954369 | IDH2 | c.569G= (p.Gly190=) c.413G= (p.Gly138=) c.242G= (p.Gly81=) c.*194G= (n.*194G=) c.179G= (p.Gly60=) | |
15 | g.90088468C>G | CA393802109 | IDH2 | c.569G>C (p.Gly190Ala) c.413G>C (p.Gly138Ala) c.242G>C (p.Gly81Ala) c.*194G>C (n.*194G>C) c.179G>C (p.Gly60Ala) | |
15 | g.90088468C>T | CA274623691 | IDH2 | c.569G>A (p.Gly190Asp) c.413G>A (p.Gly138Asp) c.242G>A (p.Gly81Asp) c.*194G>A (n.*194G>A) c.179G>A (p.Gly60Asp) | dbSNP COSMIC |
15 | g.90088469C>A | CA393802110 | IDH2 | c.568G>T (p.Gly190Cys) c.412G>T (p.Gly138Cys) c.241G>T (p.Gly81Cys) c.*193G>T (n.*193G>T) c.178G>T (p.Gly60Cys) | |
15 | g.90088469C= | CA2194954370 | IDH2 | c.568G= (p.Gly190=) c.412G= (p.Gly138=) c.241G= (p.Gly81=) c.*193G= (n.*193G=) c.178G= (p.Gly60=) | |
15 | g.90088469C>G | CA393802111 | IDH2 | c.568G>C (p.Gly190Arg) c.412G>C (p.Gly138Arg) c.241G>C (p.Gly81Arg) c.*193G>C (n.*193G>C) c.178G>C (p.Gly60Arg) | dbSNP |
15 | g.90088469C>T | CA393802112 | IDH2 | c.568G>A (p.Gly190Ser) c.412G>A (p.Gly138Ser) c.241G>A (p.Gly81Ser) c.*193G>A (n.*193G>A) c.178G>A (p.Gly60Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
15 | g.90088470G>A | CA7733139 | IDH2 | c.567C>T (p.Ala189=) c.411C>T (p.Ala137=) c.240C>T (p.Ala80=) c.*192C>T (n.*192C>T) c.177C>T (p.Ala59=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.90088470G>C | CA492297939 | IDH2 | c.567C>G (p.Ala189=) c.411C>G (p.Ala137=) c.240C>G (p.Ala80=) c.*192C>G (n.*192C>G) c.177C>G (p.Ala59=) | dbSNP gnomAD v4 |
15 | g.90088470G= | CA2194954371 | IDH2 | c.567C= (p.Ala189=) c.411C= (p.Ala137=) c.240C= (p.Ala80=) c.*192C= (n.*192C=) c.177C= (p.Ala59=) | |
15 | g.90088470G>T | CA492297940 | IDH2 | c.567C>A (p.Ala189=) c.411C>A (p.Ala137=) c.240C>A (p.Ala80=) c.*192C>A (n.*192C>A) c.177C>A (p.Ala59=) | |
15 | g.90088471G>A | CA393802114 | IDH2 | c.566C>T (p.Ala189Val) c.410C>T (p.Ala137Val) c.239C>T (p.Ala80Val) c.*191C>T (n.*191C>T) c.176C>T (p.Ala59Val) | dbSNP gnomAD v4 |
15 | g.90088471G>C | CA393802115 | IDH2 | c.566C>G (p.Ala189Gly) c.410C>G (p.Ala137Gly) c.239C>G (p.Ala80Gly) c.*191C>G (n.*191C>G) c.176C>G (p.Ala59Gly) | dbSNP |
15 | g.90088471G>T | CA393802113 | IDH2 | c.566C>A (p.Ala189Asp) c.410C>A (p.Ala137Asp) c.239C>A (p.Ala80Asp) c.*191C>A (n.*191C>A) c.176C>A (p.Ala59Asp) | |
15 | g.90088472C>A | CA393802116 | IDH2 | c.565G>T (p.Ala189Ser) c.409G>T (p.Ala137Ser) c.238G>T (p.Ala80Ser) c.*190G>T (n.*190G>T) c.175G>T (p.Ala59Ser) | dbSNP |
15 | g.90088472C= | CA2194954372 | IDH2 | c.565G= (p.Ala189=) c.409G= (p.Ala137=) c.238G= (p.Ala80=) c.*190G= (n.*190G=) c.175G= (p.Ala59=) | |
15 | g.90088472C>G | CA393802117 | IDH2 | c.565G>C (p.Ala189Pro) c.409G>C (p.Ala137Pro) c.238G>C (p.Ala80Pro) c.*190G>C (n.*190G>C) c.175G>C (p.Ala59Pro) | |
15 | g.90088472C>T | CA393802118 | IDH2 | c.565G>A (p.Ala189Thr) c.409G>A (p.Ala137Thr) c.238G>A (p.Ala80Thr) c.*190G>A (n.*190G>A) c.175G>A (p.Ala59Thr) | dbSNP gnomAD v4 |
15 | g.90088473C>A | CA492297943 | IDH2 | c.564G>T (p.Arg188=) c.408G>T (p.Arg136=) c.237G>T (p.Arg79=) c.*189G>T (n.*189G>T) c.174G>T (p.Arg58=) | |
15 | g.90088473C>G | CA492297945 | IDH2 | c.564G>C (p.Arg188=) c.408G>C (p.Arg136=) c.237G>C (p.Arg79=) c.*189G>C (n.*189G>C) c.174G>C (p.Arg58=) | dbSNP |
15 | g.90088473C>T | CA492297946 | IDH2 | c.564G>A (p.Arg188=) c.408G>A (p.Arg136=) c.237G>A (p.Arg79=) c.*189G>A (n.*189G>A) c.174G>A (p.Arg58=) | |
15 | g.90088474C>A | CA393802119 | IDH2 | c.563G>T (p.Arg188Leu) c.407G>T (p.Arg136Leu) c.236G>T (p.Arg79Leu) c.*188G>T (n.*188G>T) c.173G>T (p.Arg58Leu) | |
15 | g.90088474C= | CA2194954373 | IDH2 | c.563G= (p.Arg188=) c.407G= (p.Arg136=) c.236G= (p.Arg79=) c.*188G= (n.*188G=) c.173G= (p.Arg58=) | |
15 | g.90088474C>G | CA393802120 | IDH2 | c.563G>C (p.Arg188Pro) c.407G>C (p.Arg136Pro) c.236G>C (p.Arg79Pro) c.*188G>C (n.*188G>C) c.173G>C (p.Arg58Pro) | gnomAD v4 |
15 | g.90088474C>T | CA7733140 | IDH2 | c.563G>A (p.Arg188Gln) c.407G>A (p.Arg136Gln) c.236G>A (p.Arg79Gln) c.*188G>A (n.*188G>A) c.173G>A (p.Arg58Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.90088475G>A | CA7733141 | IDH2 | c.562C>T (p.Arg188Trp) c.406C>T (p.Arg136Trp) c.235C>T (p.Arg79Trp) c.*187C>T (n.*187C>T) c.172C>T (p.Arg58Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.90088475G>C | CA393802121 | IDH2 | c.562C>G (p.Arg188Gly) c.406C>G (p.Arg136Gly) c.235C>G (p.Arg79Gly) c.*187C>G (n.*187C>G) c.172C>G (p.Arg58Gly) | dbSNP |
15 | g.90088475G= | CA2194954374 | IDH2 | c.562C= (p.Arg188=) c.406C= (p.Arg136=) c.235C= (p.Arg79=) c.*187C= (n.*187C=) c.172C= (p.Arg58=) | |
15 | g.90088475G>T | CA492297950 | IDH2 | c.562C>A (p.Arg188=) c.406C>A (p.Arg136=) c.235C>A (p.Arg79=) c.*187C>A (n.*187C>A) c.172C>A (p.Arg58=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.90088476G>A | CA492297951 | IDH2 | c.561C>T (p.Asp187=) c.405C>T (p.Asp135=) c.234C>T (p.Asp78=) c.*186C>T (n.*186C>T) c.171C>T (p.Asp57=) | dbSNP gnomAD v4 |
15 | g.90088476G>C | CA393802122 | IDH2 | c.561C>G (p.Asp187Glu) c.405C>G (p.Asp135Glu) c.234C>G (p.Asp78Glu) c.*186C>G (n.*186C>G) c.171C>G (p.Asp57Glu) | dbSNP |
15 | g.90088476G= | CA2194954375 | IDH2 | c.561C= (p.Asp187=) c.405C= (p.Asp135=) c.234C= (p.Asp78=) c.*186C= (n.*186C=) c.171C= (p.Asp57=) | |
15 | g.90088476G>T | CA393802123 | IDH2 | c.561C>A (p.Asp187Glu) c.405C>A (p.Asp135Glu) c.234C>A (p.Asp78Glu) c.*186C>A (n.*186C>A) c.171C>A (p.Asp57Glu) | gnomAD v4 |
15 | g.90088477T>A | CA393802124 | IDH2 | c.560A>T (p.Asp187Val) c.404A>T (p.Asp135Val) c.233A>T (p.Asp78Val) c.*185A>T (n.*185A>T) c.170A>T (p.Asp57Val) | dbSNP gnomAD v4 COSMIC |
15 | g.90088477T>C | CA393802125 | IDH2 | c.560A>G (p.Asp187Gly) c.404A>G (p.Asp135Gly) c.233A>G (p.Asp78Gly) c.*185A>G (n.*185A>G) c.170A>G (p.Asp57Gly) | dbSNP |
15 | g.90088477T>G | CA393802126 | IDH2 | c.560A>C (p.Asp187Ala) c.404A>C (p.Asp135Ala) c.233A>C (p.Asp78Ala) c.*185A>C (n.*185A>C) c.170A>C (p.Asp57Ala) | |
15 | g.90088478C>A | CA393802127 | IDH2 | c.559G>T (p.Asp187Tyr) c.403G>T (p.Asp135Tyr) c.232G>T (p.Asp78Tyr) c.*184G>T (n.*184G>T) c.169G>T (p.Asp57Tyr) | dbSNP |
15 | g.90088478C>G | CA393802129 | IDH2 | c.559G>C (p.Asp187His) c.403G>C (p.Asp135His) c.232G>C (p.Asp78His) c.*184G>C (n.*184G>C) c.169G>C (p.Asp57His) | |
15 | g.90088478C>T | CA393802128 | IDH2 | c.559G>A (p.Asp187Asn) c.403G>A (p.Asp135Asn) c.232G>A (p.Asp78Asn) c.*184G>A (n.*184G>A) c.169G>A (p.Asp57Asn) | dbSNP gnomAD v4 |
15 | g.90088479T>A | CA492297959 | IDH2 | c.558A>T (p.Ala186=) c.402A>T (p.Ala134=) c.231A>T (p.Ala77=) c.*183A>T (n.*183A>T) c.168A>T (p.Ala56=) | |
15 | g.90088479T>C | CA7733142 | IDH2 | c.558A>G (p.Ala186=) c.402A>G (p.Ala134=) c.231A>G (p.Ala77=) c.*183A>G (n.*183A>G) c.168A>G (p.Ala56=) | dbSNP ExAC gnomAD v2 |
15 | g.90088479T>G | CA492297958 | IDH2 | c.558A>C (p.Ala186=) c.402A>C (p.Ala134=) c.231A>C (p.Ala77=) c.*183A>C (n.*183A>C) c.168A>C (p.Ala56=) | |
15 | g.90088479T= | CA2194954376 | IDH2 | c.558A= (p.Ala186=) c.402A= (p.Ala134=) c.231A= (p.Ala77=) c.*183A= (n.*183A=) c.168A= (p.Ala56=) | |
15 | g.90088480G>A | CA7733144 | IDH2 | c.557C>T (p.Ala186Val) c.401C>T (p.Ala134Val) c.230C>T (p.Ala77Val) c.*182C>T (n.*182C>T) c.167C>T (p.Ala56Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.90088480G>C | CA7733143 | IDH2 | c.557C>G (p.Ala186Gly) c.401C>G (p.Ala134Gly) c.230C>G (p.Ala77Gly) c.*182C>G (n.*182C>G) c.167C>G (p.Ala56Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.90088480G= | CA2194954377 | IDH2 | c.557C= (p.Ala186=) c.401C= (p.Ala134=) c.230C= (p.Ala77=) c.*182C= (n.*182C=) c.167C= (p.Ala56=) | |
15 | g.90088480G>T | CA393802130 | IDH2 | c.557C>A (p.Ala186Glu) c.401C>A (p.Ala134Glu) c.230C>A (p.Ala77Glu) c.*182C>A (n.*182C>A) c.167C>A (p.Ala56Glu) | |
15 | g.90088481C>A | CA393802131 | IDH2 | c.556G>T (p.Ala186Ser) c.400G>T (p.Ala134Ser) c.229G>T (p.Ala77Ser) c.*181G>T (n.*181G>T) c.166G>T (p.Ala56Ser) | |
15 | g.90088481C= | CA2194954378 | IDH2 | c.556G= (p.Ala186=) c.400G= (p.Ala134=) c.229G= (p.Ala77=) c.*181G= (n.*181G=) c.166G= (p.Ala56=) | |
15 | g.90088481C>G | CA393802132 | IDH2 | c.556G>C (p.Ala186Pro) c.400G>C (p.Ala134Pro) c.229G>C (p.Ala77Pro) c.*181G>C (n.*181G>C) c.166G>C (p.Ala56Pro) | |
15 | g.90088481C>T | CA393802133 | IDH2 | c.556G>A (p.Ala186Thr) c.400G>A (p.Ala134Thr) c.229G>A (p.Ala77Thr) c.*181G>A (n.*181G>A) c.166G>A (p.Ala56Thr) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.90088482C>A | CA492297963 | IDH2 | c.555G>T (p.Val185=) c.399G>T (p.Val133=) c.228G>T (p.Val76=) c.*180G>T (n.*180G>T) c.165G>T (p.Val55=) | |
15 | g.90088482C>G | CA492297965 | IDH2 | c.555G>C (p.Val185=) c.399G>C (p.Val133=) c.228G>C (p.Val76=) c.*180G>C (n.*180G>C) c.165G>C (p.Val55=) | |
15 | g.90088482C>T | CA492297964 | IDH2 | c.555G>A (p.Val185=) c.399G>A (p.Val133=) c.228G>A (p.Val76=) c.*180G>A (n.*180G>A) c.165G>A (p.Val55=) | gnomAD v4 |
15 | g.90088483A>C | CA393802134 | IDH2 | c.554T>G (p.Val185Gly) c.398T>G (p.Val133Gly) c.227T>G (p.Val76Gly) c.*179T>G (n.*179T>G) c.164T>G (p.Val55Gly) | |
15 | g.90088483A>G | CA393802135 | IDH2 | c.554T>C (p.Val185Ala) c.398T>C (p.Val133Ala) c.227T>C (p.Val76Ala) c.*179T>C (n.*179T>C) c.164T>C (p.Val55Ala) | |
15 | g.90088483A>T | CA393802136 | IDH2 | c.554T>A (p.Val185Glu) c.398T>A (p.Val133Glu) c.227T>A (p.Val76Glu) c.*179T>A (n.*179T>A) c.164T>A (p.Val55Glu) | |
15 | g.90088484C>A | CA393802139 | IDH2 | c.553G>T (p.Val185Leu) c.397G>T (p.Val133Leu) c.226G>T (p.Val76Leu) c.*178G>T (n.*178G>T) c.163G>T (p.Val55Leu) | |
15 | g.90088484C>G | CA393802138 | IDH2 | c.553G>C (p.Val185Leu) c.397G>C (p.Val133Leu) c.226G>C (p.Val76Leu) c.*178G>C (n.*178G>C) c.163G>C (p.Val55Leu) | |
15 | g.90088484C>T | CA393802137 | IDH2 | c.553G>A (p.Val185Met) c.397G>A (p.Val133Met) c.226G>A (p.Val76Met) c.*178G>A (n.*178G>A) c.163G>A (p.Val55Met) | dbSNP |
15 | g.90088485A= | CA2194954379 | IDH2 | c.552T= (p.Phe184=) c.396T= (p.Phe132=) c.225T= (p.Phe75=) c.*177T= (n.*177T=) c.162T= (p.Phe54=) | |
15 | g.90088485A>C | CA393802140 | IDH2 | c.552T>G (p.Phe184Leu) c.396T>G (p.Phe132Leu) c.225T>G (p.Phe75Leu) c.*177T>G (n.*177T>G) c.162T>G (p.Phe54Leu) | |
15 | g.90088485A>G | CA492297967 | IDH2 | c.552T>C (p.Phe184=) c.396T>C (p.Phe132=) c.225T>C (p.Phe75=) c.*177T>C (n.*177T>C) c.162T>C (p.Phe54=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.90088485A>T | CA393802141 | IDH2 | c.552T>A (p.Phe184Leu) c.396T>A (p.Phe132Leu) c.225T>A (p.Phe75Leu) c.*177T>A (n.*177T>A) c.162T>A (p.Phe54Leu) | |
15 | g.90088486_90088487del | CA2575832580 | IDH2 | c.551_552del (p.Phe184CysfsTer?) c.395_396del (p.Phe132CysfsTer?) c.224_225del (p.Phe75CysfsTer?) c.*176_*177del (n.*176_*177del) c.161_162del (p.Phe54CysfsTer?) | |
15 | g.90088486A= | CA2194954380 | IDH2 | c.551T= (p.Phe184=) c.395T= (p.Phe132=) c.224T= (p.Phe75=) c.*176T= (n.*176T=) c.161T= (p.Phe54=) | |
15 | g.90088486A>C | CA393802142 | IDH2 | c.551T>G (p.Phe184Cys) c.395T>G (p.Phe132Cys) c.224T>G (p.Phe75Cys) c.*176T>G (n.*176T>G) c.161T>G (p.Phe54Cys) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.90088486A>G | CA393802143 | IDH2 | c.551T>C (p.Phe184Ser) c.395T>C (p.Phe132Ser) c.224T>C (p.Phe75Ser) c.*176T>C (n.*176T>C) c.161T>C (p.Phe54Ser) | dbSNP |
15 | g.90088486A>T | CA393802144 | IDH2 | c.551T>A (p.Phe184Tyr) c.395T>A (p.Phe132Tyr) c.224T>A (p.Phe75Tyr) c.*176T>A (n.*176T>A) c.161T>A (p.Phe54Tyr) | |
15 | g.90088487A>C | CA393802145 | IDH2 | c.550T>G (p.Phe184Val) c.394T>G (p.Phe132Val) c.223T>G (p.Phe75Val) c.*175T>G (n.*175T>G) c.160T>G (p.Phe54Val) | |
15 | g.90088487A>G | CA393802146 | IDH2 | c.550T>C (p.Phe184Leu) c.394T>C (p.Phe132Leu) c.223T>C (p.Phe75Leu) c.*175T>C (n.*175T>C) c.160T>C (p.Phe54Leu) | gnomAD v4 |
15 | g.90088487A>T | CA393802147 | IDH2 | c.550T>A (p.Phe184Ile) c.394T>A (p.Phe132Ile) c.223T>A (p.Phe75Ile) c.*175T>A (n.*175T>A) c.160T>A (p.Phe54Ile) | |
15 | g.90088488G>A | CA492297969 | IDH2 | c.549C>T (p.Asp183=) c.393C>T (p.Asp131=) c.222C>T (p.Asp74=) c.*174C>T (n.*174C>T) c.159C>T (p.Asp53=) | gnomAD v4 |
15 | g.90088488G>C | CA393802148 | IDH2 | c.549C>G (p.Asp183Glu) c.393C>G (p.Asp131Glu) c.222C>G (p.Asp74Glu) c.*174C>G (n.*174C>G) c.159C>G (p.Asp53Glu) | gnomAD v4 |
15 | g.90088488G>T | CA393802149 | IDH2 | c.549C>A (p.Asp183Glu) c.393C>A (p.Asp131Glu) c.222C>A (p.Asp74Glu) c.*174C>A (n.*174C>A) c.159C>A (p.Asp53Glu) | |
15 | g.90088489T>A | CA393802150 | IDH2 | c.548A>T (p.Asp183Val) c.392A>T (p.Asp131Val) c.221A>T (p.Asp74Val) c.*173A>T (n.*173A>T) c.158A>T (p.Asp53Val) | dbSNP |
15 | g.90088489T>C | CA393802151 | IDH2 | c.548A>G (p.Asp183Gly) c.392A>G (p.Asp131Gly) c.221A>G (p.Asp74Gly) c.*173A>G (n.*173A>G) c.158A>G (p.Asp53Gly) | |
15 | g.90088489T>G | CA393802152 | IDH2 | c.548A>C (p.Asp183Ala) c.392A>C (p.Asp131Ala) c.221A>C (p.Asp74Ala) c.*173A>C (n.*173A>C) c.158A>C (p.Asp53Ala) | |
15 | g.90088490C>A | CA393802155 | IDH2 | c.547G>T (p.Asp183Tyr) c.391G>T (p.Asp131Tyr) c.220G>T (p.Asp74Tyr) c.*172G>T (n.*172G>T) c.157G>T (p.Asp53Tyr) | |
15 | g.90088490C>G | CA393802154 | IDH2 | c.547G>C (p.Asp183His) c.391G>C (p.Asp131His) c.220G>C (p.Asp74His) c.*172G>C (n.*172G>C) c.157G>C (p.Asp53His) | |
15 | g.90088490C>T | CA393802153 | IDH2 | c.547G>A (p.Asp183Asn) c.391G>A (p.Asp131Asn) c.220G>A (p.Asp74Asn) c.*172G>A (n.*172G>A) c.157G>A (p.Asp53Asn) | |
15 | g.90088491T>A | CA492297974 | IDH2 | c.546A>T (p.Thr182=) c.390A>T (p.Thr130=) c.219A>T (p.Thr73=) c.*171A>T (n.*171A>T) c.156A>T (p.Thr52=) | |
15 | g.90088491T>C | CA492297975 | IDH2 | c.546A>G (p.Thr182=) c.390A>G (p.Thr130=) c.219A>G (p.Thr73=) c.*171A>G (n.*171A>G) c.156A>G (p.Thr52=) | |
15 | g.90088491T>G | CA492297976 | IDH2 | c.546A>C (p.Thr182=) c.390A>C (p.Thr130=) c.219A>C (p.Thr73=) c.*171A>C (n.*171A>C) c.156A>C (p.Thr52=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.90088491T= | CA2194954381 | IDH2 | c.546A= (p.Thr182=) c.390A= (p.Thr130=) c.219A= (p.Thr73=) c.*171A= (n.*171A=) c.156A= (p.Thr52=) |