| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.49040811_49045663del | CA1139662644 | KMT2D | c.4741+257_6959del c.4741+257_6968del c.4738+257_6956del c.4738+257_6965del c.4741+257_6947del c.4741+257_6875del n.7061+257_9288del n.6050+257_8277del | ClinVar |
| 12 | g.49042252G>A | CA479712566 | KMT2D | c.737C>T c.5946C>T (p.Ser1982=) c.5955C>T (p.Ser1985=) c.58C>T c.5943C>T (p.Ser1981=) c.5952C>T (p.Ser1984=) c.5934C>T (p.Ser1978=) n.8275C>T n.7264C>T | ClinVar |
| 12 | g.49042252G>C | CA479712570 | KMT2D | c.737C>G c.5946C>G (p.Ser1982=) c.5955C>G (p.Ser1985=) c.58C>G c.5943C>G (p.Ser1981=) c.5952C>G (p.Ser1984=) c.5934C>G (p.Ser1978=) n.8275C>G n.7264C>G | |
| 12 | g.49042252G>T | CA479712572 | KMT2D | c.737C>A c.5946C>A (p.Ser1982=) c.5955C>A (p.Ser1985=) c.58C>A c.5943C>A (p.Ser1981=) c.5952C>A (p.Ser1984=) c.5934C>A (p.Ser1978=) n.8275C>A n.7264C>A | gnomAD v4 |
| 12 | g.49042253G>A | CA384627405 | KMT2D | c.736C>T c.5945C>T (p.Ser1982Phe) c.5954C>T (p.Ser1985Phe) c.57C>T c.5942C>T (p.Ser1981Phe) c.5951C>T (p.Ser1984Phe) c.5933C>T (p.Ser1978Phe) n.8274C>T n.7263C>T | |
| 12 | g.49042253G>C | CA384627407 | KMT2D | c.736C>G c.5945C>G (p.Ser1982Cys) c.5954C>G (p.Ser1985Cys) c.57C>G c.5942C>G (p.Ser1981Cys) c.5951C>G (p.Ser1984Cys) c.5933C>G (p.Ser1978Cys) n.8274C>G n.7263C>G | |
| 12 | g.49042253G>T | CA384627410 | KMT2D | c.736C>A c.5945C>A (p.Ser1982Tyr) c.5954C>A (p.Ser1985Tyr) c.57C>A c.5942C>A (p.Ser1981Tyr) c.5951C>A (p.Ser1984Tyr) c.5933C>A (p.Ser1978Tyr) n.8274C>A n.7263C>A | gnomAD v4 |
| 12 | g.49042254A= | CA2034947989 | KMT2D | c.735T= c.5944T= (p.Ser1982=) c.5953T= (p.Ser1985=) c.56T= c.5941T= (p.Ser1981=) c.5950T= (p.Ser1984=) c.5932T= (p.Ser1978=) n.8273T= n.7262T= | |
| 12 | g.49042254A>C | CA384627412 | KMT2D | c.735T>G c.5944T>G (p.Ser1982Ala) c.5953T>G (p.Ser1985Ala) c.56T>G c.5941T>G (p.Ser1981Ala) c.5950T>G (p.Ser1984Ala) c.5932T>G (p.Ser1978Ala) n.8273T>G n.7262T>G | |
| 12 | g.49042254A>G | CA384627415 | KMT2D | c.735T>C c.5944T>C (p.Ser1982Pro) c.5953T>C (p.Ser1985Pro) c.56T>C c.5941T>C (p.Ser1981Pro) c.5950T>C (p.Ser1984Pro) c.5932T>C (p.Ser1978Pro) n.8273T>C n.7262T>C | dbSNP gnomAD v2 |
| 12 | g.49042254A>T | CA384627417 | KMT2D | c.735T>A c.5944T>A (p.Ser1982Thr) c.5953T>A (p.Ser1985Thr) c.56T>A c.5941T>A (p.Ser1981Thr) c.5950T>A (p.Ser1984Thr) c.5932T>A (p.Ser1978Thr) n.8273T>A n.7262T>A | gnomAD v4 |
| 12 | g.49042255G>A | CA479712580 | KMT2D | c.734C>T c.5943C>T (p.Pro1981=) c.5952C>T (p.Pro1984=) c.55C>T c.5940C>T (p.Pro1980=) c.5949C>T (p.Pro1983=) c.5931C>T (p.Pro1977=) n.8272C>T n.7261C>T | |
| 12 | g.49042255G>C | CA479712581 | KMT2D | c.734C>G c.5943C>G (p.Pro1981=) c.5952C>G (p.Pro1984=) c.55C>G c.5940C>G (p.Pro1980=) c.5949C>G (p.Pro1983=) c.5931C>G (p.Pro1977=) n.8272C>G n.7261C>G | gnomAD v4 |
| 12 | g.49042255G>T | CA479712583 | KMT2D | c.734C>A c.5943C>A (p.Pro1981=) c.5952C>A (p.Pro1984=) c.55C>A c.5940C>A (p.Pro1980=) c.5949C>A (p.Pro1983=) c.5931C>A (p.Pro1977=) n.8272C>A n.7261C>A | gnomAD v4 |
| 12 | g.49042257del | CA2695216449 | KMT2D | c.734del c.5943del (p.Ser1982ProfsTer?) c.5952del (p.Ser1985ProfsTer?) c.55del c.5940del (p.Ser1981ProfsTer?) c.5949del (p.Ser1984ProfsTer?) c.5931del (p.Ser1978ProfsTer?) n.8272del n.7261del | |
| 12 | g.49042256G>A | CA384627420 | KMT2D | c.733C>T c.5942C>T (p.Pro1981Leu) c.5951C>T (p.Pro1984Leu) c.54C>T c.5939C>T (p.Pro1980Leu) c.5948C>T (p.Pro1983Leu) c.5930C>T (p.Pro1977Leu) n.8271C>T n.7260C>T | |
| 12 | g.49042256G>C | CA384627425 | KMT2D | c.733C>G c.5942C>G (p.Pro1981Arg) c.5951C>G (p.Pro1984Arg) c.54C>G c.5939C>G (p.Pro1980Arg) c.5948C>G (p.Pro1983Arg) c.5930C>G (p.Pro1977Arg) n.8271C>G n.7260C>G | |
| 12 | g.49042256G>T | CA384627423 | KMT2D | c.733C>A c.5942C>A (p.Pro1981His) c.5951C>A (p.Pro1984His) c.54C>A c.5939C>A (p.Pro1980His) c.5948C>A (p.Pro1983His) c.5930C>A (p.Pro1977His) n.8271C>A n.7260C>A | dbSNP gnomAD v4 |
| 12 | g.49042257G>A | CA384627427 | KMT2D | c.732C>T c.5941C>T (p.Pro1981Ser) c.5950C>T (p.Pro1984Ser) c.53C>T c.5938C>T (p.Pro1980Ser) c.5947C>T (p.Pro1983Ser) c.5929C>T (p.Pro1977Ser) n.8270C>T n.7259C>T | dbSNP gnomAD v2 |
| 12 | g.49042257G>C | CA384627432 | KMT2D | c.732C>G c.5941C>G (p.Pro1981Ala) c.5950C>G (p.Pro1984Ala) c.53C>G c.5938C>G (p.Pro1980Ala) c.5947C>G (p.Pro1983Ala) c.5929C>G (p.Pro1977Ala) n.8270C>G n.7259C>G | |
| 12 | g.49042257G= | CA2034947991 | KMT2D | c.732C= c.5941C= (p.Pro1981=) c.5950C= (p.Pro1984=) c.53C= c.5938C= (p.Pro1980=) c.5947C= (p.Pro1983=) c.5929C= (p.Pro1977=) n.8270C= n.7259C= | |
| 12 | g.49042257G>T | CA384627430 | KMT2D | c.732C>A c.5941C>A (p.Pro1981Thr) c.5950C>A (p.Pro1984Thr) c.53C>A c.5938C>A (p.Pro1980Thr) c.5947C>A (p.Pro1983Thr) c.5929C>A (p.Pro1977Thr) n.8270C>A n.7259C>A | |
| 12 | g.49042258C>A | CA479712593 | KMT2D | c.731G>T c.5940G>T (p.Thr1980=) c.5949G>T (p.Thr1983=) c.52G>T c.5937G>T (p.Thr1979=) c.5946G>T (p.Thr1982=) c.5928G>T (p.Thr1976=) n.8269G>T n.7258G>T | dbSNP gnomAD v4 |
| 12 | g.49042258C= | CA2034947993 | KMT2D | c.731G= c.5940G= (p.Thr1980=) c.5949G= (p.Thr1983=) c.52G= c.5937G= (p.Thr1979=) c.5946G= (p.Thr1982=) c.5928G= (p.Thr1976=) n.8269G= n.7258G= | |
| 12 | g.49042258C>G | CA479712595 | KMT2D | c.731G>C c.5940G>C (p.Thr1980=) c.5949G>C (p.Thr1983=) c.52G>C c.5937G>C (p.Thr1979=) c.5946G>C (p.Thr1982=) c.5928G>C (p.Thr1976=) n.8269G>C n.7258G>C | |
| 12 | g.49042258C>T | CA6547391 | KMT2D | c.731G>A c.5940G>A (p.Thr1980=) c.5949G>A (p.Thr1983=) c.52G>A c.5937G>A (p.Thr1979=) c.5946G>A (p.Thr1982=) c.5928G>A (p.Thr1976=) n.8269G>A n.7258G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.49042259_49042275del | CA645579723 | KMT2D | c.715_731del c.5924_5940del (p.Gly1975AlafsTer12) c.5933_5949del (p.Gly1978AlafsTer12) c.36_52del c.5921_5937del (p.Gly1974AlafsTer12) c.5930_5946del (p.Gly1977AlafsTer12) c.5912_5928del (p.Gly1971AlafsTer12) n.8253_8269del n.7242_7258del | COSMIC COSMIC |
| 12 | g.49042259G>A | CA384627441 | KMT2D | c.730C>T c.5939C>T (p.Thr1980Met) c.5948C>T (p.Thr1983Met) c.51C>T c.5936C>T (p.Thr1979Met) c.5945C>T (p.Thr1982Met) c.5927C>T (p.Thr1976Met) n.8268C>T n.7257C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49042259G>C | CA384627438 | KMT2D | c.730C>G c.5939C>G (p.Thr1980Arg) c.5948C>G (p.Thr1983Arg) c.51C>G c.5936C>G (p.Thr1979Arg) c.5945C>G (p.Thr1982Arg) c.5927C>G (p.Thr1976Arg) n.8268C>G n.7257C>G | ClinVar dbSNP |
| 12 | g.49042259G= | CA2034947995 | KMT2D | c.730C= c.5939C= (p.Thr1980=) c.5948C= (p.Thr1983=) c.51C= c.5936C= (p.Thr1979=) c.5945C= (p.Thr1982=) c.5927C= (p.Thr1976=) n.8268C= n.7257C= | |
| 12 | g.49042259G>T | CA384627439 | KMT2D | c.730C>A c.5939C>A (p.Thr1980Lys) c.5948C>A (p.Thr1983Lys) c.51C>A c.5936C>A (p.Thr1979Lys) c.5945C>A (p.Thr1982Lys) c.5927C>A (p.Thr1976Lys) n.8268C>A n.7257C>A | dbSNP gnomAD v4 |
| 12 | g.49042260T>A | CA384627443 | KMT2D | c.729A>T c.5938A>T (p.Thr1980Ser) c.5947A>T (p.Thr1983Ser) c.50A>T c.5935A>T (p.Thr1979Ser) c.5944A>T (p.Thr1982Ser) c.5926A>T (p.Thr1976Ser) n.8267A>T n.7256A>T | dbSNP |
| 12 | g.49042260T>C | CA384627446 | KMT2D | c.729A>G c.5938A>G (p.Thr1980Ala) c.5947A>G (p.Thr1983Ala) c.50A>G c.5935A>G (p.Thr1979Ala) c.5944A>G (p.Thr1982Ala) c.5926A>G (p.Thr1976Ala) n.8267A>G n.7256A>G | gnomAD v4 |
| 12 | g.49042260T>G | CA384627447 | KMT2D | c.729A>C c.5938A>C (p.Thr1980Pro) c.5947A>C (p.Thr1983Pro) c.50A>C c.5935A>C (p.Thr1979Pro) c.5944A>C (p.Thr1982Pro) c.5926A>C (p.Thr1976Pro) n.8267A>C n.7256A>C | |
| 12 | g.49042261G>A | CA479712598 | KMT2D | c.728C>T c.5937C>T (p.Thr1979=) c.5946C>T (p.Thr1982=) c.49C>T c.5934C>T (p.Thr1978=) c.5943C>T (p.Thr1981=) c.5925C>T (p.Thr1975=) n.8266C>T n.7255C>T | dbSNP gnomAD v4 |
| 12 | g.49042261G>C | CA236612541 | KMT2D | c.728C>G c.5937C>G (p.Thr1979=) c.5946C>G (p.Thr1982=) c.49C>G c.5934C>G (p.Thr1978=) c.5943C>G (p.Thr1981=) c.5925C>G (p.Thr1975=) n.8266C>G n.7255C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49042261G= | CA2034947998 | KMT2D | c.728C= c.5937C= (p.Thr1979=) c.5946C= (p.Thr1982=) c.49C= c.5934C= (p.Thr1978=) c.5943C= (p.Thr1981=) c.5925C= (p.Thr1975=) n.8266C= n.7255C= | |
| 12 | g.49042261G>T | CA479712600 | KMT2D | c.728C>A c.5937C>A (p.Thr1979=) c.5946C>A (p.Thr1982=) c.49C>A c.5934C>A (p.Thr1978=) c.5943C>A (p.Thr1981=) c.5925C>A (p.Thr1975=) n.8266C>A n.7255C>A | |
| 12 | g.49042262G>A | CA384627451 | KMT2D | c.727C>T c.5936C>T (p.Thr1979Ile) c.5945C>T (p.Thr1982Ile) c.48C>T c.5933C>T (p.Thr1978Ile) c.5942C>T (p.Thr1981Ile) c.5924C>T (p.Thr1975Ile) n.8265C>T n.7254C>T | |
| 12 | g.49042262G>C | CA384627454 | KMT2D | c.727C>G c.5936C>G (p.Thr1979Ser) c.5945C>G (p.Thr1982Ser) c.48C>G c.5933C>G (p.Thr1978Ser) c.5942C>G (p.Thr1981Ser) c.5924C>G (p.Thr1975Ser) n.8265C>G n.7254C>G | |
| 12 | g.49042262G>T | CA384627456 | KMT2D | c.727C>A c.5936C>A (p.Thr1979Asn) c.5945C>A (p.Thr1982Asn) c.48C>A c.5933C>A (p.Thr1978Asn) c.5942C>A (p.Thr1981Asn) c.5924C>A (p.Thr1975Asn) n.8265C>A n.7254C>A | |
| 12 | g.49042263T>A | CA384627459 | KMT2D | c.726A>T c.5935A>T (p.Thr1979Ser) c.5944A>T (p.Thr1982Ser) c.47A>T c.5932A>T (p.Thr1978Ser) c.5941A>T (p.Thr1981Ser) c.5923A>T (p.Thr1975Ser) n.8264A>T n.7253A>T | |
| 12 | g.49042263T>C | CA384627462 | KMT2D | c.726A>G c.5935A>G (p.Thr1979Ala) c.5944A>G (p.Thr1982Ala) c.47A>G c.5932A>G (p.Thr1978Ala) c.5941A>G (p.Thr1981Ala) c.5923A>G (p.Thr1975Ala) n.8264A>G n.7253A>G | |
| 12 | g.49042263T>G | CA384627464 | KMT2D | c.726A>C c.5935A>C (p.Thr1979Pro) c.5944A>C (p.Thr1982Pro) c.47A>C c.5932A>C (p.Thr1978Pro) c.5941A>C (p.Thr1981Pro) c.5923A>C (p.Thr1975Pro) n.8264A>C n.7253A>C | |
| 12 | g.49042264G>A | CA479712605 | KMT2D | c.725C>T c.5934C>T (p.Gly1978=) c.5943C>T (p.Gly1981=) c.46C>T c.5931C>T (p.Gly1977=) c.5940C>T (p.Gly1980=) c.5922C>T (p.Gly1974=) n.8263C>T n.7252C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.49042264G>C | CA479712606 | KMT2D | c.725C>G c.5934C>G (p.Gly1978=) c.5943C>G (p.Gly1981=) c.46C>G c.5931C>G (p.Gly1977=) c.5940C>G (p.Gly1980=) c.5922C>G (p.Gly1974=) n.8263C>G n.7252C>G | |
| 12 | g.49042264G>T | CA479712607 | KMT2D | c.725C>A c.5934C>A (p.Gly1978=) c.5943C>A (p.Gly1981=) c.46C>A c.5931C>A (p.Gly1977=) c.5940C>A (p.Gly1980=) c.5922C>A (p.Gly1974=) n.8263C>A n.7252C>A | dbSNP gnomAD v4 |
| 12 | g.49042265C>A | CA384627469 | KMT2D | c.724G>T c.5933G>T (p.Gly1978Val) c.5942G>T (p.Gly1981Val) c.45G>T c.5930G>T (p.Gly1977Val) c.5939G>T (p.Gly1980Val) c.5921G>T (p.Gly1974Val) n.8262G>T n.7251G>T | dbSNP |
| 12 | g.49042265C>G | CA384627468 | KMT2D | c.724G>C c.5933G>C (p.Gly1978Ala) c.5942G>C (p.Gly1981Ala) c.45G>C c.5930G>C (p.Gly1977Ala) c.5939G>C (p.Gly1980Ala) c.5921G>C (p.Gly1974Ala) n.8262G>C n.7251G>C | |
| 12 | g.49042265C>T | CA384627466 | KMT2D | c.724G>A c.5933G>A (p.Gly1978Asp) c.5942G>A (p.Gly1981Asp) c.45G>A c.5930G>A (p.Gly1977Asp) c.5939G>A (p.Gly1980Asp) c.5921G>A (p.Gly1974Asp) n.8262G>A n.7251G>A | dbSNP gnomAD v4 |
| 12 | g.49042266C>A | CA384627472 | KMT2D | c.723G>T c.5932G>T (p.Gly1978Cys) c.5941G>T (p.Gly1981Cys) c.44G>T c.5929G>T (p.Gly1977Cys) c.5938G>T (p.Gly1980Cys) c.5920G>T (p.Gly1974Cys) n.8261G>T n.7250G>T | gnomAD v4 |
| 12 | g.49042266C>G | CA384627474 | KMT2D | c.723G>C c.5932G>C (p.Gly1978Arg) c.5941G>C (p.Gly1981Arg) c.44G>C c.5929G>C (p.Gly1977Arg) c.5938G>C (p.Gly1980Arg) c.5920G>C (p.Gly1974Arg) n.8261G>C n.7250G>C | |
| 12 | g.49042266C>T | CA384627477 | KMT2D | c.723G>A c.5932G>A (p.Gly1978Ser) c.5941G>A (p.Gly1981Ser) c.44G>A c.5929G>A (p.Gly1977Ser) c.5938G>A (p.Gly1980Ser) c.5920G>A (p.Gly1974Ser) n.8261G>A n.7250G>A | |
| 12 | g.49042267_49042279del | CA645579724 | KMT2D | c.711_723del c.5920_5932del (p.Thr1974AlafsTer?) c.5929_5941del (p.Thr1977AlafsTer?) c.32_44del c.5917_5929del (p.Thr1973AlafsTer?) c.5926_5938del (p.Thr1976AlafsTer?) c.5908_5920del (p.Thr1970AlafsTer?) n.8249_8261del n.7238_7250del | COSMIC COSMIC |
| 12 | g.49042267A>C | CA479712612 | KMT2D | c.722T>G c.5931T>G (p.Gly1977=) c.5940T>G (p.Gly1980=) c.43T>G c.5928T>G (p.Gly1976=) c.5937T>G (p.Gly1979=) c.5919T>G (p.Gly1973=) n.8260T>G n.7249T>G | |
| 12 | g.49042267A>G | CA479712614 | KMT2D | c.722T>C c.5931T>C (p.Gly1977=) c.5940T>C (p.Gly1980=) c.43T>C c.5928T>C (p.Gly1976=) c.5937T>C (p.Gly1979=) c.5919T>C (p.Gly1973=) n.8260T>C n.7249T>C | |
| 12 | g.49042267A>T | CA479712613 | KMT2D | c.722T>A c.5931T>A (p.Gly1977=) c.5940T>A (p.Gly1980=) c.43T>A c.5928T>A (p.Gly1976=) c.5937T>A (p.Gly1979=) c.5919T>A (p.Gly1973=) n.8260T>A n.7249T>A | dbSNP |
| 12 | g.49042268C>A | CA384627479 | KMT2D | c.721G>T c.5930G>T (p.Gly1977Val) c.5939G>T (p.Gly1980Val) c.42G>T c.5927G>T (p.Gly1976Val) c.5936G>T (p.Gly1979Val) c.5918G>T (p.Gly1973Val) n.8259G>T n.7248G>T | gnomAD v4 |
| 12 | g.49042268C>G | CA384627482 | KMT2D | c.721G>C c.5930G>C (p.Gly1977Ala) c.5939G>C (p.Gly1980Ala) c.42G>C c.5927G>C (p.Gly1976Ala) c.5936G>C (p.Gly1979Ala) c.5918G>C (p.Gly1973Ala) n.8259G>C n.7248G>C | |
| 12 | g.49042268C>T | CA384627484 | KMT2D | c.721G>A c.5930G>A (p.Gly1977Asp) c.5939G>A (p.Gly1980Asp) c.42G>A c.5927G>A (p.Gly1976Asp) c.5936G>A (p.Gly1979Asp) c.5918G>A (p.Gly1973Asp) n.8259G>A n.7248G>A | |
| 12 | g.49042269C>A | CA384627487 | KMT2D | c.720G>T c.5929G>T (p.Gly1977Cys) c.5938G>T (p.Gly1980Cys) c.41G>T c.5926G>T (p.Gly1976Cys) c.5935G>T (p.Gly1979Cys) c.5917G>T (p.Gly1973Cys) n.8258G>T n.7247G>T | gnomAD v4 |
| 12 | g.49042269C>G | CA384627489 | KMT2D | c.720G>C c.5929G>C (p.Gly1977Arg) c.5938G>C (p.Gly1980Arg) c.41G>C c.5926G>C (p.Gly1976Arg) c.5935G>C (p.Gly1979Arg) c.5917G>C (p.Gly1973Arg) n.8258G>C n.7247G>C | |
| 12 | g.49042269C>T | CA384627492 | KMT2D | c.720G>A c.5929G>A (p.Gly1977Ser) c.5938G>A (p.Gly1980Ser) c.41G>A c.5926G>A (p.Gly1976Ser) c.5935G>A (p.Gly1979Ser) c.5917G>A (p.Gly1973Ser) n.8258G>A n.7247G>A | |
| 12 | g.49042270T>A | CA479712618 | KMT2D | c.719A>T c.5928A>T (p.Ser1976=) c.5937A>T (p.Ser1979=) c.40A>T c.5925A>T (p.Ser1975=) c.5934A>T (p.Ser1978=) c.5916A>T (p.Ser1972=) n.8257A>T n.7246A>T | |
| 12 | g.49042270T>C | CA479712619 | KMT2D | c.719A>G c.5928A>G (p.Ser1976=) c.5937A>G (p.Ser1979=) c.40A>G c.5925A>G (p.Ser1975=) c.5934A>G (p.Ser1978=) c.5916A>G (p.Ser1972=) n.8257A>G n.7246A>G | gnomAD v4 |
| 12 | g.49042270T>G | CA479712620 | KMT2D | c.719A>C c.5928A>C (p.Ser1976=) c.5937A>C (p.Ser1979=) c.40A>C c.5925A>C (p.Ser1975=) c.5934A>C (p.Ser1978=) c.5916A>C (p.Ser1972=) n.8257A>C n.7246A>C | |
| 12 | g.49042271G>A | CA384627495 | KMT2D | c.718C>T c.5927C>T (p.Ser1976Leu) c.5936C>T (p.Ser1979Leu) c.39C>T c.5924C>T (p.Ser1975Leu) c.5933C>T (p.Ser1978Leu) c.5915C>T (p.Ser1972Leu) n.8256C>T n.7245C>T | |
| 12 | g.49042271G>C | CA384627497 | KMT2D | c.718C>G c.5927C>G (p.Ser1976Ter) c.5936C>G (p.Ser1979Ter) c.39C>G c.5924C>G (p.Ser1975Ter) c.5933C>G (p.Ser1978Ter) c.5915C>G (p.Ser1972Ter) n.8256C>G n.7245C>G | COSMIC COSMIC |
| 12 | g.49042271G>T | CA384627498 | KMT2D | c.718C>A c.5927C>A (p.Ser1976Ter) c.5936C>A (p.Ser1979Ter) c.39C>A c.5924C>A (p.Ser1975Ter) c.5933C>A (p.Ser1978Ter) c.5915C>A (p.Ser1972Ter) n.8256C>A n.7245C>A | |
| 12 | g.49042272A>C | CA384627505 | KMT2D | c.717T>G c.5926T>G (p.Ser1976Ala) c.5935T>G (p.Ser1979Ala) c.38T>G c.5923T>G (p.Ser1975Ala) c.5932T>G (p.Ser1978Ala) c.5914T>G (p.Ser1972Ala) n.8255T>G n.7244T>G | |
| 12 | g.49042272A>G | CA384627503 | KMT2D | c.717T>C c.5926T>C (p.Ser1976Pro) c.5935T>C (p.Ser1979Pro) c.38T>C c.5923T>C (p.Ser1975Pro) c.5932T>C (p.Ser1978Pro) c.5914T>C (p.Ser1972Pro) n.8255T>C n.7244T>C | dbSNP |
| 12 | g.49042272A>T | CA384627500 | KMT2D | c.717T>A c.5926T>A (p.Ser1976Thr) c.5935T>A (p.Ser1979Thr) c.38T>A c.5923T>A (p.Ser1975Thr) c.5932T>A (p.Ser1978Thr) c.5914T>A (p.Ser1972Thr) n.8255T>A n.7244T>A | dbSNP |
| 12 | g.49042273G>A | CA479712622 | KMT2D | c.716C>T c.5925C>T (p.Gly1975=) c.5934C>T (p.Gly1978=) c.37C>T c.5922C>T (p.Gly1974=) c.5931C>T (p.Gly1977=) c.5913C>T (p.Gly1971=) n.8254C>T n.7243C>T | |
| 12 | g.49042273G>C | CA479712623 | KMT2D | c.716C>G c.5925C>G (p.Gly1975=) c.5934C>G (p.Gly1978=) c.37C>G c.5922C>G (p.Gly1974=) c.5931C>G (p.Gly1977=) c.5913C>G (p.Gly1971=) n.8254C>G n.7243C>G | |
| 12 | g.49042273G>T | CA479712625 | KMT2D | c.716C>A c.5925C>A (p.Gly1975=) c.5934C>A (p.Gly1978=) c.37C>A c.5922C>A (p.Gly1974=) c.5931C>A (p.Gly1977=) c.5913C>A (p.Gly1971=) n.8254C>A n.7243C>A | gnomAD v4 |
| 12 | g.49042274C>A | CA384627509 | KMT2D | c.715G>T c.5924G>T (p.Gly1975Val) c.5933G>T (p.Gly1978Val) c.36G>T c.5921G>T (p.Gly1974Val) c.5930G>T (p.Gly1977Val) c.5912G>T (p.Gly1971Val) n.8253G>T n.7242G>T | gnomAD v4 |
| 12 | g.49042274C>G | CA384627506 | KMT2D | c.715G>C c.5924G>C (p.Gly1975Ala) c.5933G>C (p.Gly1978Ala) c.36G>C c.5921G>C (p.Gly1974Ala) c.5930G>C (p.Gly1977Ala) c.5912G>C (p.Gly1971Ala) n.8253G>C n.7242G>C | |
| 12 | g.49042274C>T | CA384627507 | KMT2D | c.715G>A c.5924G>A (p.Gly1975Asp) c.5933G>A (p.Gly1978Asp) c.36G>A c.5921G>A (p.Gly1974Asp) c.5930G>A (p.Gly1977Asp) c.5912G>A (p.Gly1971Asp) n.8253G>A n.7242G>A | dbSNP gnomAD v4 |
| 12 | g.49042275C>A | CA384627510 | KMT2D | c.714G>T c.5923G>T (p.Gly1975Cys) c.5932G>T (p.Gly1978Cys) c.35G>T c.5920G>T (p.Gly1974Cys) c.5929G>T (p.Gly1977Cys) c.5911G>T (p.Gly1971Cys) n.8252G>T n.7241G>T | |
| 12 | g.49042275C>G | CA384627513 | KMT2D | c.714G>C c.5923G>C (p.Gly1975Arg) c.5932G>C (p.Gly1978Arg) c.35G>C c.5920G>C (p.Gly1974Arg) c.5929G>C (p.Gly1977Arg) c.5911G>C (p.Gly1971Arg) n.8252G>C n.7241G>C | dbSNP |
| 12 | g.49042275C>T | CA384627516 | KMT2D | c.714G>A c.5923G>A (p.Gly1975Ser) c.5932G>A (p.Gly1978Ser) c.35G>A c.5920G>A (p.Gly1974Ser) c.5929G>A (p.Gly1977Ser) c.5911G>A (p.Gly1971Ser) n.8252G>A n.7241G>A | |
| 12 | g.49042276C>A | CA479712631 | KMT2D | c.713G>T c.5922G>T (p.Thr1974=) c.5931G>T (p.Thr1977=) c.34G>T c.5919G>T (p.Thr1973=) c.5928G>T (p.Thr1976=) c.5910G>T (p.Thr1970=) n.8251G>T n.7240G>T | ClinVar |
| 12 | g.49042276C= | CA2034948000 | KMT2D | c.713G= c.5922G= (p.Thr1974=) c.5931G= (p.Thr1977=) c.34G= c.5919G= (p.Thr1973=) c.5928G= (p.Thr1976=) c.5910G= (p.Thr1970=) n.8251G= n.7240G= | |
| 12 | g.49042276C>G | CA479712633 | KMT2D | c.713G>C c.5922G>C (p.Thr1974=) c.5931G>C (p.Thr1977=) c.34G>C c.5919G>C (p.Thr1973=) c.5928G>C (p.Thr1976=) c.5910G>C (p.Thr1970=) n.8251G>C n.7240G>C | |
| 12 | g.49042276C>T | CA6547392 | KMT2D | c.713G>A c.5922G>A (p.Thr1974=) c.5931G>A (p.Thr1977=) c.34G>A c.5919G>A (p.Thr1973=) c.5928G>A (p.Thr1976=) c.5910G>A (p.Thr1970=) n.8251G>A n.7240G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49042277G>A | CA6547393 | KMT2D | c.712C>T c.5921C>T (p.Thr1974Met) c.5930C>T (p.Thr1977Met) c.33C>T c.5918C>T (p.Thr1973Met) c.5927C>T (p.Thr1976Met) c.5909C>T (p.Thr1970Met) n.8250C>T n.7239C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49042277G>C | CA384627519 | KMT2D | c.712C>G c.5921C>G (p.Thr1974Arg) c.5930C>G (p.Thr1977Arg) c.33C>G c.5918C>G (p.Thr1973Arg) c.5927C>G (p.Thr1976Arg) c.5909C>G (p.Thr1970Arg) n.8250C>G n.7239C>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.49042277G= | CA2034948002 | KMT2D | c.712C= c.5921C= (p.Thr1974=) c.5930C= (p.Thr1977=) c.33C= c.5918C= (p.Thr1973=) c.5927C= (p.Thr1976=) c.5909C= (p.Thr1970=) n.8250C= n.7239C= | |
| 12 | g.49042277G>T | CA384627522 | KMT2D | c.712C>A c.5921C>A (p.Thr1974Lys) c.5930C>A (p.Thr1977Lys) c.33C>A c.5918C>A (p.Thr1973Lys) c.5927C>A (p.Thr1976Lys) c.5909C>A (p.Thr1970Lys) n.8250C>A n.7239C>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49042278T>A | CA384627524 | KMT2D | c.711A>T c.5920A>T (p.Thr1974Ser) c.5929A>T (p.Thr1977Ser) c.32A>T c.5917A>T (p.Thr1973Ser) c.5926A>T (p.Thr1976Ser) c.5908A>T (p.Thr1970Ser) n.8249A>T n.7238A>T | dbSNP |
| 12 | g.49042278T>C | CA384627526 | KMT2D | c.711A>G c.5920A>G (p.Thr1974Ala) c.5929A>G (p.Thr1977Ala) c.32A>G c.5917A>G (p.Thr1973Ala) c.5926A>G (p.Thr1976Ala) c.5908A>G (p.Thr1970Ala) n.8249A>G n.7238A>G | dbSNP |
| 12 | g.49042278T>G | CA384627528 | KMT2D | c.711A>C c.5920A>C (p.Thr1974Pro) c.5929A>C (p.Thr1977Pro) c.32A>C c.5917A>C (p.Thr1973Pro) c.5926A>C (p.Thr1976Pro) c.5908A>C (p.Thr1970Pro) n.8249A>C n.7238A>C | |
| 12 | g.49042279C>A | CA384627536 | KMT2D | c.710G>T c.5919G>T (p.Trp1973Cys) c.5928G>T (p.Trp1976Cys) c.31G>T c.5916G>T (p.Trp1972Cys) c.5925G>T (p.Trp1975Cys) c.5907G>T (p.Trp1969Cys) n.8248G>T n.7237G>T | gnomAD v4 |
| 12 | g.49042279C>G | CA384627534 | KMT2D | c.710G>C c.5919G>C (p.Trp1973Cys) c.5928G>C (p.Trp1976Cys) c.31G>C c.5916G>C (p.Trp1972Cys) c.5925G>C (p.Trp1975Cys) c.5907G>C (p.Trp1969Cys) n.8248G>C n.7237G>C | |
| 12 | g.49042279C>T | CA384627533 | KMT2D | c.710G>A c.5919G>A (p.Trp1973Ter) c.5928G>A (p.Trp1976Ter) c.31G>A c.5916G>A (p.Trp1972Ter) c.5925G>A (p.Trp1975Ter) c.5907G>A (p.Trp1969Ter) n.8248G>A n.7237G>A | |
| 12 | g.49042280C>A | CA384627539 | KMT2D | c.709G>T c.5918G>T (p.Trp1973Leu) c.5927G>T (p.Trp1976Leu) c.30G>T c.5915G>T (p.Trp1972Leu) c.5924G>T (p.Trp1975Leu) c.5906G>T (p.Trp1969Leu) n.8247G>T n.7236G>T | gnomAD v4 |
| 12 | g.49042280C>G | CA384627540 | KMT2D | c.709G>C c.5918G>C (p.Trp1973Ser) c.5927G>C (p.Trp1976Ser) c.30G>C c.5915G>C (p.Trp1972Ser) c.5924G>C (p.Trp1975Ser) c.5906G>C (p.Trp1969Ser) n.8247G>C n.7236G>C | |
| 12 | g.49042280C>T | CA384627543 | KMT2D | c.709G>A c.5918G>A (p.Trp1973Ter) c.5927G>A (p.Trp1976Ter) c.30G>A c.5915G>A (p.Trp1972Ter) c.5924G>A (p.Trp1975Ter) c.5906G>A (p.Trp1969Ter) n.8247G>A n.7236G>A | gnomAD v4 |
| 12 | g.49042281A>C | CA384627544 | KMT2D | c.708T>G c.5917T>G (p.Trp1973Gly) c.5926T>G (p.Trp1976Gly) c.29T>G c.5914T>G (p.Trp1972Gly) c.5923T>G (p.Trp1975Gly) c.5905T>G (p.Trp1969Gly) n.8246T>G n.7235T>G | |
| 12 | g.49042281A>G | CA384627546 | KMT2D | c.708T>C c.5917T>C (p.Trp1973Arg) c.5926T>C (p.Trp1976Arg) c.29T>C c.5914T>C (p.Trp1972Arg) c.5923T>C (p.Trp1975Arg) c.5905T>C (p.Trp1969Arg) n.8246T>C n.7235T>C | gnomAD v4 |
| 12 | g.49042281A>T | CA384627549 | KMT2D | c.708T>A c.5917T>A (p.Trp1973Arg) c.5926T>A (p.Trp1976Arg) c.29T>A c.5914T>A (p.Trp1972Arg) c.5923T>A (p.Trp1975Arg) c.5905T>A (p.Trp1969Arg) n.8246T>A n.7235T>A | |
| 12 | g.49042282G>A | CA479712644 | KMT2D | c.707C>T c.5916C>T (p.Pro1972=) c.5925C>T (p.Pro1975=) c.28C>T c.5913C>T (p.Pro1971=) c.5922C>T (p.Pro1974=) c.5904C>T (p.Pro1968=) n.8245C>T n.7234C>T | |
| 12 | g.49042282G>C | CA479712645 | KMT2D | c.707C>G c.5916C>G (p.Pro1972=) c.5925C>G (p.Pro1975=) c.28C>G c.5913C>G (p.Pro1971=) c.5922C>G (p.Pro1974=) c.5904C>G (p.Pro1968=) n.8245C>G n.7234C>G | gnomAD v4 |
| 12 | g.49042282G>T | CA479712646 | KMT2D | c.707C>A c.5916C>A (p.Pro1972=) c.5925C>A (p.Pro1975=) c.28C>A c.5913C>A (p.Pro1971=) c.5922C>A (p.Pro1974=) c.5904C>A (p.Pro1968=) n.8245C>A n.7234C>A | gnomAD v4 |
| 12 | g.49042282_49042290delinsGGGGCTGTC | CA2034948004 | KMT2D | c.699_707delinsGACAGCCCC c.5908_5916delinsGACAGCCCC (p.Asp1970=) c.5917_5925delinsGACAGCCCC (p.Asp1973=) c.20_28delinsGACAGCCCC c.5905_5913delinsGACAGCCCC (p.Asp1969=) c.5914_5922delinsGACAGCCCC (p.Asp1972=) c.5896_5904delinsGACAGCCCC (p.Asp1966=) n.8237_8245delinsGACAGCCCC n.7226_7234delinsGACAGCCCC | |
| 12 | g.49042283G>A | CA384627553 | KMT2D | c.706C>T c.5915C>T (p.Pro1972Leu) c.5924C>T (p.Pro1975Leu) c.27C>T c.5912C>T (p.Pro1971Leu) c.5921C>T (p.Pro1974Leu) c.5903C>T (p.Pro1968Leu) n.8244C>T n.7233C>T | |
| 12 | g.49042283G>C | CA384627554 | KMT2D | c.706C>G c.5915C>G (p.Pro1972Arg) c.5924C>G (p.Pro1975Arg) c.27C>G c.5912C>G (p.Pro1971Arg) c.5921C>G (p.Pro1974Arg) c.5903C>G (p.Pro1968Arg) n.8244C>G n.7233C>G | |
| 12 | g.49042283G>T | CA384627556 | KMT2D | c.706C>A c.5915C>A (p.Pro1972His) c.5924C>A (p.Pro1975His) c.27C>A c.5912C>A (p.Pro1971His) c.5921C>A (p.Pro1974His) c.5903C>A (p.Pro1968His) n.8244C>A n.7233C>A | gnomAD v4 |
| 12 | g.49042288_49042295del | CA222091 | KMT2D | c.699_706del c.5908_5915del (p.Asp1970LeufsTer20) c.5917_5924del (p.Asp1973LeufsTer20) c.20_27del c.5905_5912del (p.Asp1969LeufsTer20) c.5914_5921del (p.Asp1972LeufsTer20) c.5896_5903del (p.Asp1966LeufsTer20) n.8237_8244del n.7226_7233del | ClinVar dbSNP |
| 12 | g.49042284G>A | CA384627559 | KMT2D | c.705C>T c.5914C>T (p.Pro1972Ser) c.5923C>T (p.Pro1975Ser) c.26C>T c.5911C>T (p.Pro1971Ser) c.5920C>T (p.Pro1974Ser) c.5902C>T (p.Pro1968Ser) n.8243C>T n.7232C>T | |
| 12 | g.49042284G>C | CA384627562 | KMT2D | c.705C>G c.5914C>G (p.Pro1972Ala) c.5923C>G (p.Pro1975Ala) c.26C>G c.5911C>G (p.Pro1971Ala) c.5920C>G (p.Pro1974Ala) c.5902C>G (p.Pro1968Ala) n.8243C>G n.7232C>G | dbSNP gnomAD v2 |
| 12 | g.49042284G= | CA2034948009 | KMT2D | c.705C= c.5914C= (p.Pro1972=) c.5923C= (p.Pro1975=) c.26C= c.5911C= (p.Pro1971=) c.5920C= (p.Pro1974=) c.5902C= (p.Pro1968=) n.8243C= n.7232C= | |
| 12 | g.49042284G>T | CA384627564 | KMT2D | c.705C>A c.5914C>A (p.Pro1972Thr) c.5923C>A (p.Pro1975Thr) c.26C>A c.5911C>A (p.Pro1971Thr) c.5920C>A (p.Pro1974Thr) c.5902C>A (p.Pro1968Thr) n.8243C>A n.7232C>A | |
| 12 | g.49042285G>A | CA6547394 | KMT2D | c.704C>T c.5913C>T (p.Ser1971=) c.5922C>T (p.Ser1974=) c.25C>T c.5910C>T (p.Ser1970=) c.5919C>T (p.Ser1973=) c.5901C>T (p.Ser1967=) n.8242C>T n.7231C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49042285G>C | CA384627571 | KMT2D | c.704C>G c.5913C>G (p.Ser1971Arg) c.5922C>G (p.Ser1974Arg) c.25C>G c.5910C>G (p.Ser1970Arg) c.5919C>G (p.Ser1973Arg) c.5901C>G (p.Ser1967Arg) n.8242C>G n.7231C>G | dbSNP |
| 12 | g.49042285G= | CA2034948011 | KMT2D | c.704C= c.5913C= (p.Ser1971=) c.5922C= (p.Ser1974=) c.25C= c.5910C= (p.Ser1970=) c.5919C= (p.Ser1973=) c.5901C= (p.Ser1967=) n.8242C= n.7231C= | |
| 12 | g.49042285G>T | CA384627568 | KMT2D | c.704C>A c.5913C>A (p.Ser1971Arg) c.5922C>A (p.Ser1974Arg) c.25C>A c.5910C>A (p.Ser1970Arg) c.5919C>A (p.Ser1973Arg) c.5901C>A (p.Ser1967Arg) n.8242C>A n.7231C>A | gnomAD v4 |
| 12 | g.49042286del | CA2695216452 | KMT2D | c.703del c.5912del (p.Ser1971ThrfsTer?) c.5921del (p.Ser1974ThrfsTer?) c.24del c.5909del (p.Ser1970ThrfsTer?) c.5918del (p.Ser1973ThrfsTer?) c.5900del (p.Ser1967ThrfsTer?) n.8241del n.7230del | |
| 12 | g.49042286C>A | CA384627575 | KMT2D | c.703G>T c.5912G>T (p.Ser1971Ile) c.5921G>T (p.Ser1974Ile) c.24G>T c.5909G>T (p.Ser1970Ile) c.5918G>T (p.Ser1973Ile) c.5900G>T (p.Ser1967Ile) n.8241G>T n.7230G>T | gnomAD v4 |
| 12 | g.49042286C= | CA2034948014 | KMT2D | c.703G= c.5912G= (p.Ser1971=) c.5921G= (p.Ser1974=) c.24G= c.5909G= (p.Ser1970=) c.5918G= (p.Ser1973=) c.5900G= (p.Ser1967=) n.8241G= n.7230G= | |
| 12 | g.49042286C>G | CA384627576 | KMT2D | c.703G>C c.5912G>C (p.Ser1971Thr) c.5921G>C (p.Ser1974Thr) c.24G>C c.5909G>C (p.Ser1970Thr) c.5918G>C (p.Ser1973Thr) c.5900G>C (p.Ser1967Thr) n.8241G>C n.7230G>C | |
| 12 | g.49042286C>T | CA384627578 | KMT2D | c.703G>A c.5912G>A (p.Ser1971Asn) c.5921G>A (p.Ser1974Asn) c.24G>A c.5909G>A (p.Ser1970Asn) c.5918G>A (p.Ser1973Asn) c.5900G>A (p.Ser1967Asn) n.8241G>A n.7230G>A | dbSNP gnomAD v2 |
| 12 | g.49042287T>A | CA236612546 | KMT2D | c.702A>T c.5911A>T (p.Ser1971Cys) c.5920A>T (p.Ser1974Cys) c.23A>T c.5908A>T (p.Ser1970Cys) c.5917A>T (p.Ser1973Cys) c.5899A>T (p.Ser1967Cys) n.8240A>T n.7229A>T | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.49042287T>C | CA384627583 | KMT2D | c.702A>G c.5911A>G (p.Ser1971Gly) c.5920A>G (p.Ser1974Gly) c.23A>G c.5908A>G (p.Ser1970Gly) c.5917A>G (p.Ser1973Gly) c.5899A>G (p.Ser1967Gly) n.8240A>G n.7229A>G | ClinVar gnomAD v4 |
| 12 | g.49042287T>G | CA384627585 | KMT2D | c.702A>C c.5911A>C (p.Ser1971Arg) c.5920A>C (p.Ser1974Arg) c.23A>C c.5908A>C (p.Ser1970Arg) c.5917A>C (p.Ser1973Arg) c.5899A>C (p.Ser1967Arg) n.8240A>C n.7229A>C | |
| 12 | g.49042287T= | CA2034948017 | KMT2D | c.702A= c.5911A= (p.Ser1971=) c.5920A= (p.Ser1974=) c.23A= c.5908A= (p.Ser1970=) c.5917A= (p.Ser1973=) c.5899A= (p.Ser1967=) n.8240A= n.7229A= | |
| 12 | g.49042288G>A | CA479712656 | KMT2D | c.701C>T c.5910C>T (p.Asp1970=) c.5919C>T (p.Asp1973=) c.22C>T c.5907C>T (p.Asp1969=) c.5916C>T (p.Asp1972=) c.5898C>T (p.Asp1966=) n.8239C>T n.7228C>T | dbSNP |
| 12 | g.49042288G>C | CA384627588 | KMT2D | c.701C>G c.5910C>G (p.Asp1970Glu) c.5919C>G (p.Asp1973Glu) c.22C>G c.5907C>G (p.Asp1969Glu) c.5916C>G (p.Asp1972Glu) c.5898C>G (p.Asp1966Glu) n.8239C>G n.7228C>G | dbSNP gnomAD v4 |
| 12 | g.49042288G>T | CA384627589 | KMT2D | c.701C>A c.5910C>A (p.Asp1970Glu) c.5919C>A (p.Asp1973Glu) c.22C>A c.5907C>A (p.Asp1969Glu) c.5916C>A (p.Asp1972Glu) c.5898C>A (p.Asp1966Glu) n.8239C>A n.7228C>A | gnomAD v4 |
| 12 | g.49042289T>A | CA384627591 | KMT2D | c.700A>T c.5909A>T (p.Asp1970Val) c.5918A>T (p.Asp1973Val) c.21A>T c.5906A>T (p.Asp1969Val) c.5915A>T (p.Asp1972Val) c.5897A>T (p.Asp1966Val) n.8238A>T n.7227A>T | dbSNP gnomAD v4 |
| 12 | g.49042289T>C | CA384627594 | KMT2D | c.700A>G c.5909A>G (p.Asp1970Gly) c.5918A>G (p.Asp1973Gly) c.21A>G c.5906A>G (p.Asp1969Gly) c.5915A>G (p.Asp1972Gly) c.5897A>G (p.Asp1966Gly) n.8238A>G n.7227A>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.49042289T>G | CA384627593 | KMT2D | c.700A>C c.5909A>C (p.Asp1970Ala) c.5918A>C (p.Asp1973Ala) c.21A>C c.5906A>C (p.Asp1969Ala) c.5915A>C (p.Asp1972Ala) c.5897A>C (p.Asp1966Ala) n.8238A>C n.7227A>C | |
| 12 | g.49042289T= | CA2034948019 | KMT2D | c.700A= c.5909A= (p.Asp1970=) c.5918A= (p.Asp1973=) c.21A= c.5906A= (p.Asp1969=) c.5915A= (p.Asp1972=) c.5897A= (p.Asp1966=) n.8238A= n.7227A= | |
| 12 | g.49042290C>A | CA384627597 | KMT2D | c.699G>T c.5908G>T (p.Asp1970Tyr) c.5917G>T (p.Asp1973Tyr) c.20G>T c.5905G>T (p.Asp1969Tyr) c.5914G>T (p.Asp1972Tyr) c.5896G>T (p.Asp1966Tyr) n.8237G>T n.7226G>T | ClinVar |
| 12 | g.49042290C= | CA2034948021 | KMT2D | c.699G= c.5908G= (p.Asp1970=) c.5917G= (p.Asp1973=) c.20G= c.5905G= (p.Asp1969=) c.5914G= (p.Asp1972=) c.5896G= (p.Asp1966=) n.8237G= n.7226G= | |
| 12 | g.49042290C>G | CA384627599 | KMT2D | c.699G>C c.5908G>C (p.Asp1970His) c.5917G>C (p.Asp1973His) c.20G>C c.5905G>C (p.Asp1969His) c.5914G>C (p.Asp1972His) c.5896G>C (p.Asp1966His) n.8237G>C n.7226G>C | dbSNP |
| 12 | g.49042290C>T | CA6547395 | KMT2D | c.699G>A c.5908G>A (p.Asp1970Asn) c.5917G>A (p.Asp1973Asn) c.20G>A c.5905G>A (p.Asp1969Asn) c.5914G>A (p.Asp1972Asn) c.5896G>A (p.Asp1966Asn) n.8237G>A n.7226G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49042291G>A | CA6547396 | KMT2D | c.698C>T c.5907C>T (p.Pro1969=) c.5916C>T (p.Pro1972=) c.19C>T c.5904C>T (p.Pro1968=) c.5913C>T (p.Pro1971=) c.5895C>T (p.Pro1965=) n.8236C>T n.7225C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49042291G>C | CA479712660 | KMT2D | c.698C>G c.5907C>G (p.Pro1969=) c.5916C>G (p.Pro1972=) c.19C>G c.5904C>G (p.Pro1968=) c.5913C>G (p.Pro1971=) c.5895C>G (p.Pro1965=) n.8236C>G n.7225C>G | |
| 12 | g.49042291G= | CA2034948024 | KMT2D | c.698C= c.5907C= (p.Pro1969=) c.5916C= (p.Pro1972=) c.19C= c.5904C= (p.Pro1968=) c.5913C= (p.Pro1971=) c.5895C= (p.Pro1965=) n.8236C= n.7225C= | |
| 12 | g.49042291G>T | CA479712661 | KMT2D | c.698C>A c.5907C>A (p.Pro1969=) c.5916C>A (p.Pro1972=) c.19C>A c.5904C>A (p.Pro1968=) c.5913C>A (p.Pro1971=) c.5895C>A (p.Pro1965=) n.8236C>A n.7225C>A | gnomAD v4 |
| 12 | g.49042292G>A | CA384627603 | KMT2D | c.697C>T c.5906C>T (p.Pro1969Leu) c.5915C>T (p.Pro1972Leu) c.18C>T c.5903C>T (p.Pro1968Leu) c.5912C>T (p.Pro1971Leu) c.5894C>T (p.Pro1965Leu) n.8235C>T n.7224C>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49042292G>C | CA384627607 | KMT2D | c.697C>G c.5906C>G (p.Pro1969Arg) c.5915C>G (p.Pro1972Arg) c.18C>G c.5903C>G (p.Pro1968Arg) c.5912C>G (p.Pro1971Arg) c.5894C>G (p.Pro1965Arg) n.8235C>G n.7224C>G | dbSNP |
| 12 | g.49042292G= | CA2034948026 | KMT2D | c.697C= c.5906C= (p.Pro1969=) c.5915C= (p.Pro1972=) c.18C= c.5903C= (p.Pro1968=) c.5912C= (p.Pro1971=) c.5894C= (p.Pro1965=) n.8235C= n.7224C= | |
| 12 | g.49042292G>T | CA384627605 | KMT2D | c.697C>A c.5906C>A (p.Pro1969His) c.5915C>A (p.Pro1972His) c.18C>A c.5903C>A (p.Pro1968His) c.5912C>A (p.Pro1971His) c.5894C>A (p.Pro1965His) n.8235C>A n.7224C>A | |
| 12 | g.49042293G>A | CA384627609 | KMT2D | c.696C>T c.5905C>T (p.Pro1969Ser) c.5914C>T (p.Pro1972Ser) c.17C>T c.5902C>T (p.Pro1968Ser) c.5911C>T (p.Pro1971Ser) c.5893C>T (p.Pro1965Ser) n.8234C>T n.7223C>T | dbSNP gnomAD v4 |
| 12 | g.49042293G>C | CA384627612 | KMT2D | c.696C>G c.5905C>G (p.Pro1969Ala) c.5914C>G (p.Pro1972Ala) c.17C>G c.5902C>G (p.Pro1968Ala) c.5911C>G (p.Pro1971Ala) c.5893C>G (p.Pro1965Ala) n.8234C>G n.7223C>G | |
| 12 | g.49042293G>T | CA384627615 | KMT2D | c.696C>A c.5905C>A (p.Pro1969Thr) c.5914C>A (p.Pro1972Thr) c.17C>A c.5902C>A (p.Pro1968Thr) c.5911C>A (p.Pro1971Thr) c.5893C>A (p.Pro1965Thr) n.8234C>A n.7223C>A | |
| 12 | g.49042294C>A | CA384627617 | KMT2D | c.695G>T c.5904G>T (p.Glu1968Asp) c.5913G>T (p.Glu1971Asp) c.16G>T c.5901G>T (p.Glu1967Asp) c.5910G>T (p.Glu1970Asp) c.5892G>T (p.Glu1964Asp) n.8233G>T n.7222G>T | gnomAD v4 |
| 12 | g.49042294C>G | CA384627620 | KMT2D | c.695G>C c.5904G>C (p.Glu1968Asp) c.5913G>C (p.Glu1971Asp) c.16G>C c.5901G>C (p.Glu1967Asp) c.5910G>C (p.Glu1970Asp) c.5892G>C (p.Glu1964Asp) n.8233G>C n.7222G>C | |
| 12 | g.49042294C>T | CA479712667 | KMT2D | c.695G>A c.5904G>A (p.Glu1968=) c.5913G>A (p.Glu1971=) c.16G>A c.5901G>A (p.Glu1967=) c.5910G>A (p.Glu1970=) c.5892G>A (p.Glu1964=) n.8233G>A n.7222G>A | ClinVar gnomAD v4 COSMIC COSMIC |
| 12 | g.49042295T>A | CA384627622 | KMT2D | c.694A>T c.5903A>T (p.Glu1968Val) c.5912A>T (p.Glu1971Val) c.15A>T c.5900A>T (p.Glu1967Val) c.5909A>T (p.Glu1970Val) c.5891A>T (p.Glu1964Val) n.8232A>T n.7221A>T | dbSNP |
| 12 | g.49042295T>C | CA384627624 | KMT2D | c.694A>G c.5903A>G (p.Glu1968Gly) c.5912A>G (p.Glu1971Gly) c.15A>G c.5900A>G (p.Glu1967Gly) c.5909A>G (p.Glu1970Gly) c.5891A>G (p.Glu1964Gly) n.8232A>G n.7221A>G | dbSNP |
| 12 | g.49042295T>G | CA384627627 | KMT2D | c.694A>C c.5903A>C (p.Glu1968Ala) c.5912A>C (p.Glu1971Ala) c.15A>C c.5900A>C (p.Glu1967Ala) c.5909A>C (p.Glu1970Ala) c.5891A>C (p.Glu1964Ala) n.8232A>C n.7221A>C | |
| 12 | g.49042296C>A | CA384627629 | KMT2D | c.693G>T c.5902G>T (p.Glu1968Ter) c.5911G>T (p.Glu1971Ter) c.14G>T c.5899G>T (p.Glu1967Ter) c.5908G>T (p.Glu1970Ter) c.5890G>T (p.Glu1964Ter) n.8231G>T n.7220G>T | gnomAD v4 COSMIC COSMIC |
| 12 | g.49042296C>G | CA384627634 | KMT2D | c.693G>C c.5902G>C (p.Glu1968Gln) c.5911G>C (p.Glu1971Gln) c.14G>C c.5899G>C (p.Glu1967Gln) c.5908G>C (p.Glu1970Gln) c.5890G>C (p.Glu1964Gln) n.8231G>C n.7220G>C | |
| 12 | g.49042296C>T | CA384627636 | KMT2D | c.693G>A c.5902G>A (p.Glu1968Lys) c.5911G>A (p.Glu1971Lys) c.14G>A c.5899G>A (p.Glu1967Lys) c.5908G>A (p.Glu1970Lys) c.5890G>A (p.Glu1964Lys) n.8231G>A n.7220G>A | dbSNP |
| 12 | g.49042297A>C | CA479712669 | KMT2D | c.692T>G c.5901T>G (p.Gly1967=) c.5910T>G (p.Gly1970=) c.13T>G c.5898T>G (p.Gly1966=) c.5907T>G (p.Gly1969=) c.5889T>G (p.Gly1963=) n.8230T>G n.7219T>G | |
| 12 | g.49042297A>G | CA479712670 | KMT2D | c.692T>C c.5901T>C (p.Gly1967=) c.5910T>C (p.Gly1970=) c.13T>C c.5898T>C (p.Gly1966=) c.5907T>C (p.Gly1969=) c.5889T>C (p.Gly1963=) n.8230T>C n.7219T>C | |
| 12 | g.49042297A>T | CA479712671 | KMT2D | c.692T>A c.5901T>A (p.Gly1967=) c.5910T>A (p.Gly1970=) c.13T>A c.5898T>A (p.Gly1966=) c.5907T>A (p.Gly1969=) c.5889T>A (p.Gly1963=) n.8230T>A n.7219T>A | gnomAD v4 |
| 12 | g.49042298C>A | CA384627637 | KMT2D | c.691G>T c.5900G>T (p.Gly1967Val) c.5909G>T (p.Gly1970Val) c.12G>T c.5897G>T (p.Gly1966Val) c.5906G>T (p.Gly1969Val) c.5888G>T (p.Gly1963Val) n.8229G>T n.7218G>T | gnomAD v4 |
| 12 | g.49042298C>G | CA384627642 | KMT2D | c.691G>C c.5900G>C (p.Gly1967Ala) c.5909G>C (p.Gly1970Ala) c.12G>C c.5897G>C (p.Gly1966Ala) c.5906G>C (p.Gly1969Ala) c.5888G>C (p.Gly1963Ala) n.8229G>C n.7218G>C | |
| 12 | g.49042298C>T | CA384627639 | KMT2D | c.691G>A c.5900G>A (p.Gly1967Asp) c.5909G>A (p.Gly1970Asp) c.12G>A c.5897G>A (p.Gly1966Asp) c.5906G>A (p.Gly1969Asp) c.5888G>A (p.Gly1963Asp) n.8229G>A n.7218G>A | gnomAD v4 |
| 12 | g.49042299C>A | CA384627646 | KMT2D | c.690G>T c.5899G>T (p.Gly1967Cys) c.5908G>T (p.Gly1970Cys) c.11G>T c.5896G>T (p.Gly1966Cys) c.5905G>T (p.Gly1969Cys) c.5887G>T (p.Gly1963Cys) n.8228G>T n.7217G>T | gnomAD v4 |
| 12 | g.49042299C= | CA2034948030 | KMT2D | c.690G= c.5899G= (p.Gly1967=) c.5908G= (p.Gly1970=) c.11G= c.5896G= (p.Gly1966=) c.5905G= (p.Gly1969=) c.5887G= (p.Gly1963=) n.8228G= n.7217G= | |
| 12 | g.49042299C>G | CA384627648 | KMT2D | c.690G>C c.5899G>C (p.Gly1967Arg) c.5908G>C (p.Gly1970Arg) c.11G>C c.5896G>C (p.Gly1966Arg) c.5905G>C (p.Gly1969Arg) c.5887G>C (p.Gly1963Arg) n.8228G>C n.7217G>C | dbSNP |
| 12 | g.49042299C>T | CA10604829 | KMT2D | c.690G>A c.5899G>A (p.Gly1967Ser) c.5908G>A (p.Gly1970Ser) c.11G>A c.5896G>A (p.Gly1966Ser) c.5905G>A (p.Gly1969Ser) c.5887G>A (p.Gly1963Ser) n.8228G>A n.7217G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.49042300G>A | CA6547397 | KMT2D | c.689C>T c.5898C>T (p.Pro1966=) c.5907C>T (p.Pro1969=) c.10C>T c.5895C>T (p.Pro1965=) c.5904C>T (p.Pro1968=) c.5886C>T (p.Pro1962=) n.8227C>T n.7216C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49042300G>C | CA6547398 | KMT2D | c.689C>G c.5898C>G (p.Pro1966=) c.5907C>G (p.Pro1969=) c.10C>G c.5895C>G (p.Pro1965=) c.5904C>G (p.Pro1968=) c.5886C>G (p.Pro1962=) n.8227C>G n.7216C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.49042300G= | CA2034948036 | KMT2D | c.689C= c.5898C= (p.Pro1966=) c.5907C= (p.Pro1969=) c.10C= c.5895C= (p.Pro1965=) c.5904C= (p.Pro1968=) c.5886C= (p.Pro1962=) n.8227C= n.7216C= | |
| 12 | g.49042300G>T | CA479712674 | KMT2D | c.689C>A c.5898C>A (p.Pro1966=) c.5907C>A (p.Pro1969=) c.10C>A c.5895C>A (p.Pro1965=) c.5904C>A (p.Pro1968=) c.5886C>A (p.Pro1962=) n.8227C>A n.7216C>A | dbSNP gnomAD v4 |
| 12 | g.49042301G>A | CA384627652 | KMT2D | c.688C>T c.5897C>T (p.Pro1966Leu) c.5906C>T (p.Pro1969Leu) c.9C>T c.5894C>T (p.Pro1965Leu) c.5903C>T (p.Pro1968Leu) c.5885C>T (p.Pro1962Leu) n.8226C>T n.7215C>T | gnomAD v4 COSMIC COSMIC |
| 12 | g.49042301G>C | CA384627654 | KMT2D | c.688C>G c.5897C>G (p.Pro1966Arg) c.5906C>G (p.Pro1969Arg) c.9C>G c.5894C>G (p.Pro1965Arg) c.5903C>G (p.Pro1968Arg) c.5885C>G (p.Pro1962Arg) n.8226C>G n.7215C>G | |
| 12 | g.49042301G>T | CA384627656 | KMT2D | c.688C>A c.5897C>A (p.Pro1966His) c.5906C>A (p.Pro1969His) c.9C>A c.5894C>A (p.Pro1965His) c.5903C>A (p.Pro1968His) c.5885C>A (p.Pro1962His) n.8226C>A n.7215C>A | gnomAD v4 |
| 12 | g.49042302G>A | CA6547399 | KMT2D | c.687C>T c.5896C>T (p.Pro1966Ser) c.5905C>T (p.Pro1969Ser) c.8C>T c.5893C>T (p.Pro1965Ser) c.5902C>T (p.Pro1968Ser) c.5884C>T (p.Pro1962Ser) n.8225C>T n.7214C>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 12 | g.49042302G>C | CA384627661 | KMT2D | c.687C>G c.5896C>G (p.Pro1966Ala) c.5905C>G (p.Pro1969Ala) c.8C>G c.5893C>G (p.Pro1965Ala) c.5902C>G (p.Pro1968Ala) c.5884C>G (p.Pro1962Ala) n.8225C>G n.7214C>G | |
| 12 | g.49042302G= | CA2034948039 | KMT2D | c.687C= c.5896C= (p.Pro1966=) c.5905C= (p.Pro1969=) c.8C= c.5893C= (p.Pro1965=) c.5902C= (p.Pro1968=) c.5884C= (p.Pro1962=) n.8225C= n.7214C= | |
| 12 | g.49042302G>T | CA384627663 | KMT2D | c.687C>A c.5896C>A (p.Pro1966Thr) c.5905C>A (p.Pro1969Thr) c.8C>A c.5893C>A (p.Pro1965Thr) c.5902C>A (p.Pro1968Thr) c.5884C>A (p.Pro1962Thr) n.8225C>A n.7214C>A | |
| 12 | g.49042303T>A | CA384627669 | KMT2D | c.686A>T c.5895A>T (p.Glu1965Asp) c.5904A>T (p.Glu1968Asp) c.7A>T c.5892A>T (p.Glu1964Asp) c.5901A>T (p.Glu1967Asp) c.5883A>T (p.Glu1961Asp) n.8224A>T n.7213A>T | |
| 12 | g.49042303T>C | CA479712675 | KMT2D | c.686A>G c.5895A>G (p.Glu1965=) c.5904A>G (p.Glu1968=) c.7A>G c.5892A>G (p.Glu1964=) c.5901A>G (p.Glu1967=) c.5883A>G (p.Glu1961=) n.8224A>G n.7213A>G | |
| 12 | g.49042303T>G | CA384627671 | KMT2D | c.686A>C c.5895A>C (p.Glu1965Asp) c.5904A>C (p.Glu1968Asp) c.7A>C c.5892A>C (p.Glu1964Asp) c.5901A>C (p.Glu1967Asp) c.5883A>C (p.Glu1961Asp) n.8224A>C n.7213A>C | |
| 12 | g.49042304T>A | CA384627674 | KMT2D | c.685A>T c.5894A>T (p.Glu1965Val) c.5903A>T (p.Glu1968Val) c.6A>T c.5891A>T (p.Glu1964Val) c.5900A>T (p.Glu1967Val) c.5882A>T (p.Glu1961Val) n.8223A>T n.7212A>T | |
| 12 | g.49042304T>C | CA384627676 | KMT2D | c.685A>G c.5894A>G (p.Glu1965Gly) c.5903A>G (p.Glu1968Gly) c.6A>G c.5891A>G (p.Glu1964Gly) c.5900A>G (p.Glu1967Gly) c.5882A>G (p.Glu1961Gly) n.8223A>G n.7212A>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.49042304T>G | CA384627675 | KMT2D | c.685A>C c.5894A>C (p.Glu1965Ala) c.5903A>C (p.Glu1968Ala) c.6A>C c.5891A>C (p.Glu1964Ala) c.5900A>C (p.Glu1967Ala) c.5882A>C (p.Glu1961Ala) n.8223A>C n.7212A>C | |
| 12 | g.49042304T= | CA2034948041 | KMT2D | c.685A= c.5894A= (p.Glu1965=) c.5903A= (p.Glu1968=) c.6A= c.5891A= (p.Glu1964=) c.5900A= (p.Glu1967=) c.5882A= (p.Glu1961=) n.8223A= n.7212A= | |
| 12 | g.49042305C>A | CA384627679 | KMT2D | c.684G>T c.5893G>T (p.Glu1965Ter) c.5902G>T (p.Glu1968Ter) c.5G>T c.5890G>T (p.Glu1964Ter) c.5899G>T (p.Glu1967Ter) c.5881G>T (p.Glu1961Ter) n.8222G>T n.7211G>T | gnomAD v4 |
| 12 | g.49042305C= | CA2034948043 | KMT2D | c.684G= c.5893G= (p.Glu1965=) c.5902G= (p.Glu1968=) c.5G= c.5890G= (p.Glu1964=) c.5899G= (p.Glu1967=) c.5881G= (p.Glu1961=) n.8222G= n.7211G= | |
| 12 | g.49042305C>G | CA384627686 | KMT2D | c.684G>C c.5893G>C (p.Glu1965Gln) c.5902G>C (p.Glu1968Gln) c.5G>C c.5890G>C (p.Glu1964Gln) c.5899G>C (p.Glu1967Gln) c.5881G>C (p.Glu1961Gln) n.8222G>C n.7211G>C | |
| 12 | g.49042305C>T | CA384627688 | KMT2D | c.684G>A c.5893G>A (p.Glu1965Lys) c.5902G>A (p.Glu1968Lys) c.5G>A c.5890G>A (p.Glu1964Lys) c.5899G>A (p.Glu1967Lys) c.5881G>A (p.Glu1961Lys) n.8222G>A n.7211G>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49042308_49042324dup | CA2695216454 | KMT2D | c.680-12_684dup c.5877_5893dup (p.Glu1965GlyfsTer?) c.5886_5902dup (p.Glu1968GlyfsTer?) c.5874_5890dup (p.Glu1964GlyfsTer?) c.5883_5899dup (p.Glu1967GlyfsTer?) c.5877-12_5881dup n.8206_8222dup n.7195_7211dup | |
| 12 | g.49042306C>A | CA479712676 | KMT2D | c.683G>T c.5892G>T (p.Pro1964=) c.5901G>T (p.Pro1967=) c.4G>T c.5889G>T (p.Pro1963=) c.5898G>T (p.Pro1966=) c.5880G>T (p.Pro1960=) n.8221G>T n.7210G>T | gnomAD v4 |
| 12 | g.49042306C= | CA2034948047 | KMT2D | c.683G= c.5892G= (p.Pro1964=) c.5901G= (p.Pro1967=) c.4G= c.5889G= (p.Pro1963=) c.5898G= (p.Pro1966=) c.5880G= (p.Pro1960=) n.8221G= n.7210G= | |
| 12 | g.49042306C>G | CA479712677 | KMT2D | c.683G>C c.5892G>C (p.Pro1964=) c.5901G>C (p.Pro1967=) c.4G>C c.5889G>C (p.Pro1963=) c.5898G>C (p.Pro1966=) c.5880G>C (p.Pro1960=) n.8221G>C n.7210G>C | |
| 12 | g.49042306C>T | CA6547400 | KMT2D | c.683G>A c.5892G>A (p.Pro1964=) c.5901G>A (p.Pro1967=) c.4G>A c.5889G>A (p.Pro1963=) c.5898G>A (p.Pro1966=) c.5880G>A (p.Pro1960=) n.8221G>A n.7210G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49042307G>A | CA6547401 | KMT2D | c.682C>T c.5891C>T (p.Pro1964Leu) c.5900C>T (p.Pro1967Leu) c.3C>T c.5888C>T (p.Pro1963Leu) c.5897C>T (p.Pro1966Leu) c.5879C>T (p.Pro1960Leu) n.8220C>T n.7209C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49042307G>C | CA384627692 | KMT2D | c.682C>G c.5891C>G (p.Pro1964Arg) c.5900C>G (p.Pro1967Arg) c.3C>G c.5888C>G (p.Pro1963Arg) c.5897C>G (p.Pro1966Arg) c.5879C>G (p.Pro1960Arg) n.8220C>G n.7209C>G | gnomAD v4 |
| 12 | g.49042307G= | CA2034948057 | KMT2D | c.682C= c.5891C= (p.Pro1964=) c.5900C= (p.Pro1967=) c.3C= c.5888C= (p.Pro1963=) c.5897C= (p.Pro1966=) c.5879C= (p.Pro1960=) n.8220C= n.7209C= | |
| 12 | g.49042307G>T | CA384627694 | KMT2D | c.682C>A c.5891C>A (p.Pro1964Gln) c.5900C>A (p.Pro1967Gln) c.3C>A c.5888C>A (p.Pro1963Gln) c.5897C>A (p.Pro1966Gln) c.5879C>A (p.Pro1960Gln) n.8220C>A n.7209C>A | dbSNP gnomAD v4 |
| 12 | g.49042308G>A | CA384627696 | KMT2D | c.681C>T c.5890C>T (p.Pro1964Ser) c.5899C>T (p.Pro1967Ser) c.2C>T c.5887C>T (p.Pro1963Ser) c.5896C>T (p.Pro1966Ser) c.5878C>T (p.Pro1960Ser) n.8219C>T n.7208C>T | gnomAD v4 |
| 12 | g.49042308G>C | CA384627698 | KMT2D | c.681C>G c.5890C>G (p.Pro1964Ala) c.5899C>G (p.Pro1967Ala) c.2C>G c.5887C>G (p.Pro1963Ala) c.5896C>G (p.Pro1966Ala) c.5878C>G (p.Pro1960Ala) n.8219C>G n.7208C>G | dbSNP |
| 12 | g.49042308G>T | CA384627699 | KMT2D | c.681C>A c.5890C>A (p.Pro1964Thr) c.5899C>A (p.Pro1967Thr) c.2C>A c.5887C>A (p.Pro1963Thr) c.5896C>A (p.Pro1966Thr) c.5878C>A (p.Pro1960Thr) n.8219C>A n.7208C>A | |
| 12 | g.49042309G>A | CA479712678 | KMT2D | c.680C>T c.5889C>T (p.Ser1963=) c.5898C>T (p.Ser1966=) c.1C>T c.5886C>T (p.Ser1962=) c.5895C>T (p.Ser1965=) c.5877C>T (p.Ser1959=) n.8218C>T n.7207C>T | dbSNP gnomAD v4 |
| 12 | g.49042309G>C | CA384627708 | KMT2D | c.680C>G c.5889C>G (p.Ser1963Arg) c.5898C>G (p.Ser1966Arg) c.1C>G c.5886C>G (p.Ser1962Arg) c.5895C>G (p.Ser1965Arg) c.5877C>G (p.Ser1959Arg) n.8218C>G n.7207C>G | |
| 12 | g.49042309G>T | CA384627702 | KMT2D | c.680C>A c.5889C>A (p.Ser1963Arg) c.5898C>A (p.Ser1966Arg) c.1C>A c.5886C>A (p.Ser1962Arg) c.5895C>A (p.Ser1965Arg) c.5877C>A (p.Ser1959Arg) n.8218C>A n.7207C>A | gnomAD v4 |
| 12 | g.49042310C>A | CA384627710 | KMT2D | c.680-1G>T c.5888G>T (p.Ser1963Ile) c.5897G>T (p.Ser1966Ile) c.5885G>T (p.Ser1962Ile) c.5894G>T (p.Ser1965Ile) c.5877-1G>T (n.5877-1G>T) n.8217G>T n.7206G>T | gnomAD v4 |
| 12 | g.49042310C= | CA2034948060 | KMT2D | c.680-1G= c.5888G= (p.Ser1963=) c.5897G= (p.Ser1966=) c.5885G= (p.Ser1962=) c.5894G= (p.Ser1965=) c.5877-1G= (n.5877-1G=) n.8217G= n.7206G= | |
| 12 | g.49042310C>G | CA236612557 | KMT2D | c.680-1G>C c.5888G>C (p.Ser1963Thr) c.5897G>C (p.Ser1966Thr) c.5885G>C (p.Ser1962Thr) c.5894G>C (p.Ser1965Thr) c.5877-1G>C (n.5877-1G>C) n.8217G>C n.7206G>C | dbSNP |
| 12 | g.49042310C>T | CA384627711 | KMT2D | c.680-1G>A c.5888G>A (p.Ser1963Asn) c.5897G>A (p.Ser1966Asn) c.5885G>A (p.Ser1962Asn) c.5894G>A (p.Ser1965Asn) c.5877-1G>A (n.5877-1G>A) n.8217G>A n.7206G>A | gnomAD v4 |
| 12 | g.49042311T>A | CA384627713 | KMT2D | c.680-2A>T c.5887A>T (p.Ser1963Cys) c.5896A>T (p.Ser1966Cys) c.5884A>T (p.Ser1962Cys) c.5893A>T (p.Ser1965Cys) c.5877-2A>T (n.5877-2A>T) n.8216A>T n.7205A>T | dbSNP gnomAD v4 |
| 12 | g.49042311T>C | CA384627715 | KMT2D | c.680-2A>G c.5887A>G (p.Ser1963Gly) c.5896A>G (p.Ser1966Gly) c.5884A>G (p.Ser1962Gly) c.5893A>G (p.Ser1965Gly) c.5877-2A>G (n.5877-2A>G) n.8216A>G n.7205A>G | gnomAD v4 |
| 12 | g.49042311T>G | CA384627718 | KMT2D | c.680-2A>C c.5887A>C (p.Ser1963Arg) c.5896A>C (p.Ser1966Arg) c.5884A>C (p.Ser1962Arg) c.5893A>C (p.Ser1965Arg) c.5877-2A>C (n.5877-2A>C) n.8216A>C n.7205A>C | |
| 12 | g.49042312A>C | CA384627719 | KMT2D | c.680-3T>G c.5886T>G (p.Phe1962Leu) c.5895T>G (p.Phe1965Leu) c.5883T>G (p.Phe1961Leu) c.5892T>G (p.Phe1964Leu) c.5877-3T>G (n.5877-3T>G) n.8215T>G n.7204T>G | |
| 12 | g.49042312A>G | CA479712679 | KMT2D | c.680-3T>C c.5886T>C (p.Phe1962=) c.5895T>C (p.Phe1965=) c.5883T>C (p.Phe1961=) c.5892T>C (p.Phe1964=) c.5877-3T>C (n.5877-3T>C) n.8215T>C n.7204T>C | COSMIC COSMIC |
| 12 | g.49042312A>T | CA384627721 | KMT2D | c.680-3T>A c.5886T>A (p.Phe1962Leu) c.5895T>A (p.Phe1965Leu) c.5883T>A (p.Phe1961Leu) c.5892T>A (p.Phe1964Leu) c.5877-3T>A (n.5877-3T>A) n.8215T>A n.7204T>A | |
| 12 | g.49042313A>C | CA384627725 | KMT2D | c.680-4T>G c.5885T>G (p.Phe1962Cys) c.5894T>G (p.Phe1965Cys) c.5882T>G (p.Phe1961Cys) c.5891T>G (p.Phe1964Cys) c.5877-4T>G (n.5877-4T>G) n.8214T>G n.7203T>G | |
| 12 | g.49042313A>G | CA384627726 | KMT2D | c.680-4T>C c.5885T>C (p.Phe1962Ser) c.5894T>C (p.Phe1965Ser) c.5882T>C (p.Phe1961Ser) c.5891T>C (p.Phe1964Ser) c.5877-4T>C (n.5877-4T>C) n.8214T>C n.7203T>C | |
| 12 | g.49042313A>T | CA384627728 | KMT2D | c.680-4T>A c.5885T>A (p.Phe1962Tyr) c.5894T>A (p.Phe1965Tyr) c.5882T>A (p.Phe1961Tyr) c.5891T>A (p.Phe1964Tyr) c.5877-4T>A (n.5877-4T>A) n.8214T>A n.7203T>A | |
| 12 | g.49042314A>C | CA384627729 | KMT2D | c.680-5T>G c.5884T>G (p.Phe1962Val) c.5893T>G (p.Phe1965Val) c.5881T>G (p.Phe1961Val) c.5890T>G (p.Phe1964Val) c.5877-5T>G (n.5877-5T>G) n.8213T>G n.7202T>G | |
| 12 | g.49042314A>G | CA384627730 | KMT2D | c.680-5T>C c.5884T>C (p.Phe1962Leu) c.5893T>C (p.Phe1965Leu) c.5881T>C (p.Phe1961Leu) c.5890T>C (p.Phe1964Leu) c.5877-5T>C (n.5877-5T>C) n.8213T>C n.7202T>C | ClinVar |
| 12 | g.49042314A>T | CA384627731 | KMT2D | c.680-5T>A c.5884T>A (p.Phe1962Ile) c.5893T>A (p.Phe1965Ile) c.5881T>A (p.Phe1961Ile) c.5890T>A (p.Phe1964Ile) c.5877-5T>A (n.5877-5T>A) n.8213T>A n.7202T>A | |
| 12 | g.49042315G>A | CA479712680 | KMT2D | c.680-6C>T c.5883C>T (p.Phe1961=) c.5892C>T (p.Phe1964=) c.5880C>T (p.Phe1960=) c.5889C>T (p.Phe1963=) c.5877-6C>T (n.5877-6C>T) n.8212C>T n.7201C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49042315G>C | CA384627732 | KMT2D | c.680-6C>G c.5883C>G (p.Phe1961Leu) c.5892C>G (p.Phe1964Leu) c.5880C>G (p.Phe1960Leu) c.5889C>G (p.Phe1963Leu) c.5877-6C>G (n.5877-6C>G) n.8212C>G n.7201C>G | dbSNP gnomAD v4 |
| 12 | g.49042315G= | CA2034948065 | KMT2D | c.680-6C= c.5883C= (p.Phe1961=) c.5892C= (p.Phe1964=) c.5880C= (p.Phe1960=) c.5889C= (p.Phe1963=) c.5877-6C= (n.5877-6C=) n.8212C= n.7201C= | |
| 12 | g.49042315G>T | CA236612559 | KMT2D | c.680-6C>A c.5883C>A (p.Phe1961Leu) c.5892C>A (p.Phe1964Leu) c.5880C>A (p.Phe1960Leu) c.5889C>A (p.Phe1963Leu) c.5877-6C>A (n.5877-6C>A) n.8212C>A n.7201C>A | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.49042316A>C | CA384627739 | KMT2D | c.680-7T>G c.5882T>G (p.Phe1961Cys) c.5891T>G (p.Phe1964Cys) c.5879T>G (p.Phe1960Cys) c.5888T>G (p.Phe1963Cys) c.5877-7T>G (n.5877-7T>G) n.8211T>G n.7200T>G | |
| 12 | g.49042316A>G | CA384627738 | KMT2D | c.680-7T>C c.5882T>C (p.Phe1961Ser) c.5891T>C (p.Phe1964Ser) c.5879T>C (p.Phe1960Ser) c.5888T>C (p.Phe1963Ser) c.5877-7T>C (n.5877-7T>C) n.8211T>C n.7200T>C | |
| 12 | g.49042316A>T | CA384627735 | KMT2D | c.680-7T>A c.5882T>A (p.Phe1961Tyr) c.5891T>A (p.Phe1964Tyr) c.5879T>A (p.Phe1960Tyr) c.5888T>A (p.Phe1963Tyr) c.5877-7T>A (n.5877-7T>A) n.8211T>A n.7200T>A | |
| 12 | g.49042317A>C | CA384627740 | KMT2D | c.680-8T>G c.5881T>G (p.Phe1961Val) c.5890T>G (p.Phe1964Val) c.5878T>G (p.Phe1960Val) c.5887T>G (p.Phe1963Val) c.5877-8T>G (n.5877-8T>G) n.8210T>G n.7199T>G | |
| 12 | g.49042317A>G | CA384627741 | KMT2D | c.680-8T>C c.5881T>C (p.Phe1961Leu) c.5890T>C (p.Phe1964Leu) c.5878T>C (p.Phe1960Leu) c.5887T>C (p.Phe1963Leu) c.5877-8T>C (n.5877-8T>C) n.8210T>C n.7199T>C | gnomAD v4 |
| 12 | g.49042317A>T | CA384627744 | KMT2D | c.680-8T>A c.5881T>A (p.Phe1961Ile) c.5890T>A (p.Phe1964Ile) c.5878T>A (p.Phe1960Ile) c.5887T>A (p.Phe1963Ile) c.5877-8T>A (n.5877-8T>A) n.8210T>A n.7199T>A | |
| 12 | g.49042318G>A | CA479712681 | KMT2D | c.680-9C>T c.5880C>T (p.Gly1960=) c.5889C>T (p.Gly1963=) c.5877C>T (p.Gly1959=) c.5886C>T (p.Gly1962=) c.5877-9C>T (n.5877-9C>T) n.8209C>T n.7198C>T | |
| 12 | g.49042318G>C | CA479712682 | KMT2D | c.680-9C>G c.5880C>G (p.Gly1960=) c.5889C>G (p.Gly1963=) c.5877C>G (p.Gly1959=) c.5886C>G (p.Gly1962=) c.5877-9C>G (n.5877-9C>G) n.8209C>G n.7198C>G | |
| 12 | g.49042318G>T | CA479712683 | KMT2D | c.680-9C>A c.5880C>A (p.Gly1960=) c.5889C>A (p.Gly1963=) c.5877C>A (p.Gly1959=) c.5886C>A (p.Gly1962=) c.5877-9C>A (n.5877-9C>A) n.8209C>A n.7198C>A | gnomAD v4 |
| 12 | g.49042319C>A | CA236612562 | KMT2D | c.680-10G>T c.5879G>T (p.Gly1960Val) c.5888G>T (p.Gly1963Val) c.5876G>T (p.Gly1959Val) c.5885G>T (p.Gly1962Val) c.5877-10G>T (n.5877-10G>T) n.8208G>T n.7197G>T | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.49042319C= | CA2034948067 | KMT2D | c.680-10G= c.5879G= (p.Gly1960=) c.5888G= (p.Gly1963=) c.5876G= (p.Gly1959=) c.5885G= (p.Gly1962=) c.5877-10G= (n.5877-10G=) n.8208G= n.7197G= | |
| 12 | g.49042319C>G | CA384627754 | KMT2D | c.680-10G>C c.5879G>C (p.Gly1960Ala) c.5888G>C (p.Gly1963Ala) c.5876G>C (p.Gly1959Ala) c.5885G>C (p.Gly1962Ala) c.5877-10G>C (n.5877-10G>C) n.8208G>C n.7197G>C | |
| 12 | g.49042319C>T | CA6547402 | KMT2D | c.680-10G>A c.5879G>A (p.Gly1960Asp) c.5888G>A (p.Gly1963Asp) c.5876G>A (p.Gly1959Asp) c.5885G>A (p.Gly1962Asp) c.5877-10G>A (n.5877-10G>A) n.8208G>A n.7197G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49042323del | CA645579725 | KMT2D | c.680-10del c.5879del (p.Gly1960AlafsTer?) c.5888del (p.Gly1963AlafsTer?) c.5876del (p.Gly1959AlafsTer?) c.5885del (p.Gly1962AlafsTer?) c.5877-10del (n.5877-10del) n.8208del n.7197del | gnomAD v4 COSMIC COSMIC |
| 12 | g.49042320C>A | CA384627758 | KMT2D | c.680-11G>T c.5878G>T (p.Gly1960Cys) c.5887G>T (p.Gly1963Cys) c.5875G>T (p.Gly1959Cys) c.5884G>T (p.Gly1962Cys) c.5877-11G>T (n.5877-11G>T) n.8207G>T n.7196G>T | gnomAD v4 |
| 12 | g.49042320C>G | CA384627765 | KMT2D | c.680-11G>C c.5878G>C (p.Gly1960Arg) c.5887G>C (p.Gly1963Arg) c.5875G>C (p.Gly1959Arg) c.5884G>C (p.Gly1962Arg) c.5877-11G>C (n.5877-11G>C) n.8207G>C n.7196G>C | dbSNP |
| 12 | g.49042320C>T | CA384627767 | KMT2D | c.680-11G>A c.5878G>A (p.Gly1960Ser) c.5887G>A (p.Gly1963Ser) c.5875G>A (p.Gly1959Ser) c.5884G>A (p.Gly1962Ser) c.5877-11G>A (n.5877-11G>A) n.8207G>A n.7196G>A | dbSNP gnomAD v4 |
| 12 | g.49042321C>A | CA479712684 | KMT2D | c.680-12G>T c.5877G>T (p.Gly1959=) c.5886G>T (p.Gly1962=) c.5874G>T (p.Gly1958=) c.5883G>T (p.Gly1961=) c.5877-12G>T (n.5877-12G>T) n.8206G>T n.7195G>T | gnomAD v4 |
| 12 | g.49042321C= | CA2034948069 | KMT2D | c.680-12G= c.5877G= (p.Gly1959=) c.5886G= (p.Gly1962=) c.5874G= (p.Gly1958=) c.5883G= (p.Gly1961=) c.5877-12G= (n.5877-12G=) n.8206G= n.7195G= | |
| 12 | g.49042321C>G | CA479712685 | KMT2D | c.680-12G>C c.5877G>C (p.Gly1959=) c.5886G>C (p.Gly1962=) c.5874G>C (p.Gly1958=) c.5883G>C (p.Gly1961=) c.5877-12G>C (n.5877-12G>C) n.8206G>C n.7195G>C | |
| 12 | g.49042321C>T | CA6547403 | KMT2D | c.680-12G>A c.5877G>A (p.Gly1959=) c.5886G>A (p.Gly1962=) c.5874G>A (p.Gly1958=) c.5883G>A (p.Gly1961=) c.5877-12G>A (n.5877-12G>A) n.8206G>A n.7195G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49042322C>A | CA384627780 | KMT2D | c.680-13G>T c.5876G>T (p.Gly1959Val) c.5885G>T (p.Gly1962Val) c.5873G>T (p.Gly1958Val) c.5882G>T (p.Gly1961Val) c.5877-13G>T (n.5877-13G>T) n.8205G>T n.7194G>T | COSMIC COSMIC |
| 12 | g.49042322C>G | CA384627782 | KMT2D | c.680-13G>C c.5876G>C (p.Gly1959Ala) c.5885G>C (p.Gly1962Ala) c.5873G>C (p.Gly1958Ala) c.5882G>C (p.Gly1961Ala) c.5877-13G>C (n.5877-13G>C) n.8205G>C n.7194G>C | |
| 12 | g.49042322C>T | CA384627789 | KMT2D | c.680-13G>A c.5876G>A (p.Gly1959Glu) c.5885G>A (p.Gly1962Glu) c.5873G>A (p.Gly1958Glu) c.5882G>A (p.Gly1961Glu) c.5877-13G>A (n.5877-13G>A) n.8205G>A n.7194G>A | gnomAD v4 COSMIC COSMIC |
| 12 | g.49042323C>A | CA384627793 | KMT2D | c.680-14G>T c.5875G>T (p.Gly1959Trp) c.5884G>T (p.Gly1962Trp) c.5872G>T (p.Gly1958Trp) c.5881G>T (p.Gly1961Trp) c.5877-14G>T (n.5877-14G>T) n.8204G>T n.7193G>T | gnomAD v4 COSMIC COSMIC |
| 12 | g.49042323C>G | CA384627796 | KMT2D | c.680-14G>C c.5875G>C (p.Gly1959Arg) c.5884G>C (p.Gly1962Arg) c.5872G>C (p.Gly1958Arg) c.5881G>C (p.Gly1961Arg) c.5877-14G>C (n.5877-14G>C) n.8204G>C n.7193G>C | |
| 12 | g.49042323C>T | CA384627790 | KMT2D | c.680-14G>A c.5875G>A (p.Gly1959Arg) c.5884G>A (p.Gly1962Arg) c.5872G>A (p.Gly1958Arg) c.5881G>A (p.Gly1961Arg) c.5877-14G>A (n.5877-14G>A) n.8204G>A n.7193G>A | gnomAD v4 |
| 12 | g.49042324G>A | CA6547404 | KMT2D | c.680-15C>T c.5874C>T (p.Arg1958=) c.5883C>T (p.Arg1961=) c.5871C>T (p.Arg1957=) c.5880C>T (p.Arg1960=) c.5877-15C>T (n.5877-15C>T) n.8203C>T n.7192C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49042324G>C | CA479712686 | KMT2D | c.680-15C>G c.5874C>G (p.Arg1958=) c.5883C>G (p.Arg1961=) c.5871C>G (p.Arg1957=) c.5880C>G (p.Arg1960=) c.5877-15C>G (n.5877-15C>G) n.8203C>G n.7192C>G | gnomAD v4 |
| 12 | g.49042324G= | CA2034948072 | KMT2D | c.680-15C= c.5874C= (p.Arg1958=) c.5883C= (p.Arg1961=) c.5871C= (p.Arg1957=) c.5880C= (p.Arg1960=) c.5877-15C= (n.5877-15C=) n.8203C= n.7192C= | |
| 12 | g.49042324G>T | CA479712687 | KMT2D | c.680-15C>A c.5874C>A (p.Arg1958=) c.5883C>A (p.Arg1961=) c.5871C>A (p.Arg1957=) c.5880C>A (p.Arg1960=) c.5877-15C>A (n.5877-15C>A) n.8203C>A n.7192C>A | gnomAD v4 |
| 12 | g.49042325C>A | CA384627799 | KMT2D | c.680-16G>T c.5873G>T (p.Arg1958Leu) c.5882G>T (p.Arg1961Leu) c.5870G>T (p.Arg1957Leu) c.5879G>T (p.Arg1960Leu) c.5877-16G>T (n.5877-16G>T) n.8202G>T n.7191G>T | gnomAD v4 |
| 12 | g.49042325C= | CA2034948075 | KMT2D | c.680-16G= c.5873G= (p.Arg1958=) c.5882G= (p.Arg1961=) c.5870G= (p.Arg1957=) c.5879G= (p.Arg1960=) c.5877-16G= (n.5877-16G=) n.8202G= n.7191G= | |
| 12 | g.49042325C>G | CA384627803 | KMT2D | c.680-16G>C c.5873G>C (p.Arg1958Pro) c.5882G>C (p.Arg1961Pro) c.5870G>C (p.Arg1957Pro) c.5879G>C (p.Arg1960Pro) c.5877-16G>C (n.5877-16G>C) n.8202G>C n.7191G>C | |
| 12 | g.49042325C>T | CA6547405 | KMT2D | c.680-16G>A c.5873G>A (p.Arg1958His) c.5882G>A (p.Arg1961His) c.5870G>A (p.Arg1957His) c.5879G>A (p.Arg1960His) c.5877-16G>A (n.5877-16G>A) n.8202G>A n.7191G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49042326G>A | CA6547406 | KMT2D | c.680-17C>T c.5872C>T (p.Arg1958Cys) c.5881C>T (p.Arg1961Cys) c.5869C>T (p.Arg1957Cys) c.5878C>T (p.Arg1960Cys) c.5877-17C>T (n.5877-17C>T) n.8201C>T n.7190C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49042326G>C | CA384627812 | KMT2D | c.680-17C>G c.5872C>G (p.Arg1958Gly) c.5881C>G (p.Arg1961Gly) c.5869C>G (p.Arg1957Gly) c.5878C>G (p.Arg1960Gly) c.5877-17C>G (n.5877-17C>G) n.8201C>G n.7190C>G | gnomAD v4 |
| 12 | g.49042326G= | CA2034948078 | KMT2D | c.680-17C= c.5872C= (p.Arg1958=) c.5881C= (p.Arg1961=) c.5869C= (p.Arg1957=) c.5878C= (p.Arg1960=) c.5877-17C= (n.5877-17C=) n.8201C= n.7190C= | |
| 12 | g.49042326G>T | CA384627816 | KMT2D | c.680-17C>A c.5872C>A (p.Arg1958Ser) c.5881C>A (p.Arg1961Ser) c.5869C>A (p.Arg1957Ser) c.5878C>A (p.Arg1960Ser) c.5877-17C>A (n.5877-17C>A) n.8201C>A n.7190C>A | gnomAD v4 |
| 12 | g.49042327C>A | CA6547407 | KMT2D | c.680-18G>T c.5871G>T (p.Glu1957Asp) c.5880G>T (p.Glu1960Asp) c.5868G>T (p.Glu1956Asp) c.5877G>T (p.Glu1959Asp) c.5877-18G>T (n.5877-18G>T) n.8200G>T n.7189G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49042327C= | CA2034948080 | KMT2D | c.680-18G= c.5871G= (p.Glu1957=) c.5880G= (p.Glu1960=) c.5868G= (p.Glu1956=) c.5877G= (p.Glu1959=) c.5877-18G= (n.5877-18G=) n.8200G= n.7189G= | |
| 12 | g.49042327C>G | CA384627819 | KMT2D | c.680-18G>C c.5871G>C (p.Glu1957Asp) c.5880G>C (p.Glu1960Asp) c.5868G>C (p.Glu1956Asp) c.5877G>C (p.Glu1959Asp) c.5877-18G>C (n.5877-18G>C) n.8200G>C n.7189G>C | gnomAD v4 |
| 12 | g.49042327C>T | CA479712688 | KMT2D | c.680-18G>A c.5871G>A (p.Glu1957=) c.5880G>A (p.Glu1960=) c.5868G>A (p.Glu1956=) c.5877G>A (p.Glu1959=) c.5877-18G>A (n.5877-18G>A) n.8200G>A n.7189G>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49042328T>A | CA384627820 | KMT2D | c.680-19A>T c.5870A>T (p.Glu1957Val) c.5879A>T (p.Glu1960Val) c.5867A>T (p.Glu1956Val) c.5876A>T (p.Glu1959Val) c.5877-19A>T (n.5877-19A>T) n.8199A>T n.7188A>T | gnomAD v4 |
| 12 | g.49042328T>C | CA384627821 | KMT2D | c.680-19A>G c.5870A>G (p.Glu1957Gly) c.5879A>G (p.Glu1960Gly) c.5867A>G (p.Glu1956Gly) c.5876A>G (p.Glu1959Gly) c.5877-19A>G (n.5877-19A>G) n.8199A>G n.7188A>G | dbSNP gnomAD v4 |
| 12 | g.49042328T>G | CA384627824 | KMT2D | c.680-19A>C c.5870A>C (p.Glu1957Ala) c.5879A>C (p.Glu1960Ala) c.5867A>C (p.Glu1956Ala) c.5876A>C (p.Glu1959Ala) c.5877-19A>C (n.5877-19A>C) n.8199A>C n.7188A>C | |
| 12 | g.49042329C>A | CA384627828 | KMT2D | c.680-20G>T c.5869G>T (p.Glu1957Ter) c.5878G>T (p.Glu1960Ter) c.5866G>T (p.Glu1956Ter) c.5875G>T (p.Glu1959Ter) c.5877-20G>T (n.5877-20G>T) n.8198G>T n.7187G>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.49042329C= | CA2034948086 | KMT2D | c.680-20G= c.5869G= (p.Glu1957=) c.5878G= (p.Glu1960=) c.5866G= (p.Glu1956=) c.5875G= (p.Glu1959=) c.5877-20G= (n.5877-20G=) n.8198G= n.7187G= | |
| 12 | g.49042329C>G | CA384627825 | KMT2D | c.680-20G>C c.5869G>C (p.Glu1957Gln) c.5878G>C (p.Glu1960Gln) c.5866G>C (p.Glu1956Gln) c.5875G>C (p.Glu1959Gln) c.5877-20G>C (n.5877-20G>C) n.8198G>C n.7187G>C | |
| 12 | g.49042329C>T | CA384627827 | KMT2D | c.680-20G>A c.5869G>A (p.Glu1957Lys) c.5878G>A (p.Glu1960Lys) c.5866G>A (p.Glu1956Lys) c.5875G>A (p.Glu1959Lys) c.5877-20G>A (n.5877-20G>A) n.8198G>A n.7187G>A | gnomAD v4 |
| 12 | g.49042331del | CA2618609554 | KMT2D | c.680-20del c.5869del c.5878del c.5866del c.5875del c.5877-20del (n.5877-20del) n.8198del n.7187del | gnomAD v4 |
| 12 | g.49042330C>A | CA384627829 | KMT2D | c.680-21G>T c.5868G>T (p.Arg1956Ser) c.5877G>T (p.Arg1959Ser) c.5865G>T (p.Arg1955Ser) c.5874G>T (p.Arg1958Ser) c.5877-21G>T (n.5877-21G>T) n.8197G>T n.7186G>T | gnomAD v4 |
| 12 | g.49042330C>G | CA384627831 | KMT2D | c.680-21G>C c.5868G>C (p.Arg1956Ser) c.5877G>C (p.Arg1959Ser) c.5865G>C (p.Arg1955Ser) c.5874G>C (p.Arg1958Ser) c.5877-21G>C (n.5877-21G>C) n.8197G>C n.7186G>C | |
| 12 | g.49042330C>T | CA479712689 | KMT2D | c.680-21G>A c.5868G>A (p.Arg1956=) c.5877G>A (p.Arg1959=) c.5865G>A (p.Arg1955=) c.5874G>A (p.Arg1958=) c.5877-21G>A (n.5877-21G>A) n.8197G>A n.7186G>A | gnomAD v4 |
| 12 | g.49042331C>A | CA236612568 | KMT2D | c.680-22G>T c.5868-1G>T (n.5868-1G>T) c.5877-1G>T (n.5877-1G>T) c.5865-1G>T (n.5865-1G>T) c.5874-1G>T (n.5874-1G>T) c.5877-22G>T (n.5877-22G>T) n.8197-1G>T n.7186-1G>T | dbSNP gnomAD v4 |
| 12 | g.49042331C= | CA2034948088 | KMT2D | c.680-22G= c.5868-1G= (n.5868-1G=) c.5877-1G= (n.5877-1G=) c.5865-1G= (n.5865-1G=) c.5874-1G= (n.5874-1G=) c.5877-22G= (n.5877-22G=) n.8197-1G= n.7186-1G= | |
| 12 | g.49042331C>G | CA384627834 | KMT2D | c.680-22G>C c.5868-1G>C (n.5868-1G>C) c.5877-1G>C (n.5877-1G>C) c.5865-1G>C (n.5865-1G>C) c.5874-1G>C (n.5874-1G>C) c.5877-22G>C (n.5877-22G>C) n.8197-1G>C n.7186-1G>C | |
| 12 | g.49042331C>T | CA384627841 | KMT2D | c.680-22G>A c.5868-1G>A (n.5868-1G>A) c.5877-1G>A (n.5877-1G>A) c.5865-1G>A (n.5865-1G>A) c.5874-1G>A (n.5874-1G>A) c.5877-22G>A (n.5877-22G>A) n.8197-1G>A n.7186-1G>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.49042332T>A | CA384627845 | KMT2D | c.680-23A>T c.5868-2A>T (n.5868-2A>T) c.5877-2A>T (n.5877-2A>T) c.5865-2A>T (n.5865-2A>T) c.5874-2A>T (n.5874-2A>T) c.5877-23A>T (n.5877-23A>T) n.8197-2A>T n.7186-2A>T | gnomAD v4 |
| 12 | g.49042332T>C | CA384627849 | KMT2D | c.680-23A>G c.5868-2A>G (n.5868-2A>G) c.5877-2A>G (n.5877-2A>G) c.5865-2A>G (n.5865-2A>G) c.5874-2A>G (n.5874-2A>G) c.5877-23A>G (n.5877-23A>G) n.8197-2A>G n.7186-2A>G | gnomAD v4 |
| 12 | g.49042332T>G | CA384627851 | KMT2D | c.680-23A>C c.5868-2A>C (n.5868-2A>C) c.5877-2A>C (n.5877-2A>C) c.5865-2A>C (n.5865-2A>C) c.5874-2A>C (n.5874-2A>C) c.5877-23A>C (n.5877-23A>C) n.8197-2A>C n.7186-2A>C | gnomAD v4 |
| 12 | g.49042332T= | CA2034948089 | KMT2D | c.680-23A= c.5868-2A= (n.5868-2A=) c.5877-2A= (n.5877-2A=) c.5865-2A= (n.5865-2A=) c.5874-2A= (n.5874-2A=) c.5877-23A= (n.5877-23A=) n.8197-2A= n.7186-2A= | |
| 12 | g.49042333G>A | CA6547409 | KMT2D | c.680-24C>T c.5868-3C>T (n.5868-3C>T) c.5877-3C>T (n.5877-3C>T) c.5865-3C>T (n.5865-3C>T) c.5874-3C>T (n.5874-3C>T) c.5877-24C>T (n.5877-24C>T) n.8197-3C>T n.7186-3C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.49042333G= | CA2034948090 | KMT2D | c.680-24C= c.5868-3C= (n.5868-3C=) c.5877-3C= (n.5877-3C=) c.5865-3C= (n.5865-3C=) c.5874-3C= (n.5874-3C=) c.5877-24C= (n.5877-24C=) n.8197-3C= n.7186-3C= | |
| 12 | g.49042333G>T | CA2618609556 | KMT2D | c.680-24C>A c.5868-3C>A (n.5868-3C>A) c.5877-3C>A (n.5877-3C>A) c.5865-3C>A (n.5865-3C>A) c.5874-3C>A (n.5874-3C>A) c.5877-24C>A (n.5877-24C>A) n.8197-3C>A n.7186-3C>A | gnomAD v4 |
| 12 | g.49042336dup | CA6547408 | KMT2D | c.680-24dup c.5868-3dup (n.5868-3dup) c.5877-3dup (n.5877-3dup) c.5865-3dup (n.5865-3dup) c.5874-3dup (n.5874-3dup) c.5877-24dup (n.5877-24dup) n.8197-3dup n.7186-3dup | dbSNP ExAC |
| 12 | g.49042336del | CA2618609555 | KMT2D | c.680-24del c.5868-3del (n.5868-3del) c.5877-3del (n.5877-3del) c.5865-3del (n.5865-3del) c.5874-3del (n.5874-3del) c.5877-24del (n.5877-24del) n.8197-3del n.7186-3del | gnomAD v4 |
| 12 | g.49042334G>A | CA2618609557 | KMT2D | c.680-25C>T c.5868-4C>T (n.5868-4C>T) c.5877-4C>T (n.5877-4C>T) c.5865-4C>T (n.5865-4C>T) c.5874-4C>T (n.5874-4C>T) c.5877-25C>T (n.5877-25C>T) n.8197-4C>T n.7186-4C>T | gnomAD v4 |
| 12 | g.49042334G>T | CA2618609558 | KMT2D | c.680-25C>A c.5868-4C>A (n.5868-4C>A) c.5877-4C>A (n.5877-4C>A) c.5865-4C>A (n.5865-4C>A) c.5874-4C>A (n.5874-4C>A) c.5877-25C>A (n.5877-25C>A) n.8197-4C>A n.7186-4C>A | gnomAD v4 |
| 12 | g.49042335G>A | CA236612572 | KMT2D | c.680-26C>T c.5868-5C>T (n.5868-5C>T) c.5877-5C>T (n.5877-5C>T) c.5865-5C>T (n.5865-5C>T) c.5874-5C>T (n.5874-5C>T) c.5877-26C>T (n.5877-26C>T) n.8197-5C>T n.7186-5C>T | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.49042335G= | CA2034948091 | KMT2D | c.680-26C= c.5868-5C= (n.5868-5C=) c.5877-5C= (n.5877-5C=) c.5865-5C= (n.5865-5C=) c.5874-5C= (n.5874-5C=) c.5877-26C= (n.5877-26C=) n.8197-5C= n.7186-5C= | |
| 12 | g.49042335G>T | CA605233910 | KMT2D | c.680-26C>A c.5868-5C>A (n.5868-5C>A) c.5877-5C>A (n.5877-5C>A) c.5865-5C>A (n.5865-5C>A) c.5874-5C>A (n.5874-5C>A) c.5877-26C>A (n.5877-26C>A) n.8197-5C>A n.7186-5C>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49042336G>A | CA2618609559 | KMT2D | c.680-27C>T c.5868-6C>T (n.5868-6C>T) c.5877-6C>T (n.5877-6C>T) c.5865-6C>T (n.5865-6C>T) c.5874-6C>T (n.5874-6C>T) c.5877-27C>T (n.5877-27C>T) n.8197-6C>T n.7186-6C>T | gnomAD v4 |
| 12 | g.49042336G>T | CA2618609560 | KMT2D | c.680-27C>A c.5868-6C>A (n.5868-6C>A) c.5877-6C>A (n.5877-6C>A) c.5865-6C>A (n.5865-6C>A) c.5874-6C>A (n.5874-6C>A) c.5877-27C>A (n.5877-27C>A) n.8197-6C>A n.7186-6C>A | gnomAD v4 |
| 12 | g.49042337C>A | CA2618609561 | KMT2D | c.680-28G>T c.5868-7G>T (n.5868-7G>T) c.5877-7G>T (n.5877-7G>T) c.5865-7G>T (n.5865-7G>T) c.5874-7G>T (n.5874-7G>T) c.5877-28G>T (n.5877-28G>T) n.8197-7G>T n.7186-7G>T | gnomAD v4 |
| 12 | g.49042337C= | CA2034948092 | KMT2D | c.680-28G= c.5868-7G= (n.5868-7G=) c.5877-7G= (n.5877-7G=) c.5865-7G= (n.5865-7G=) c.5874-7G= (n.5874-7G=) c.5877-28G= (n.5877-28G=) n.8197-7G= n.7186-7G= | |
| 12 | g.49042337C>T | CA479712690 | KMT2D | c.680-28G>A c.5868-7G>A (n.5868-7G>A) c.5877-7G>A (n.5877-7G>A) c.5865-7G>A (n.5865-7G>A) c.5874-7G>A (n.5874-7G>A) c.5877-28G>A (n.5877-28G>A) n.8197-7G>A n.7186-7G>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.49042338G>A | CA147696 | KMT2D | c.680-29C>T c.5868-8C>T (n.5868-8C>T) c.5877-8C>T (n.5877-8C>T) c.5865-8C>T (n.5865-8C>T) c.5874-8C>T (n.5874-8C>T) c.5877-29C>T (n.5877-29C>T) n.8197-8C>T n.7186-8C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49042338G>C | CA2581085229 | KMT2D | c.680-29C>G c.5868-8C>G (n.5868-8C>G) c.5877-8C>G (n.5877-8C>G) c.5865-8C>G (n.5865-8C>G) c.5874-8C>G (n.5874-8C>G) c.5877-29C>G (n.5877-29C>G) n.8197-8C>G n.7186-8C>G | gnomAD v4 |
| 12 | g.49042338G= | CA2034948093 | KMT2D | c.680-29C= c.5868-8C= (n.5868-8C=) c.5877-8C= (n.5877-8C=) c.5865-8C= (n.5865-8C=) c.5874-8C= (n.5874-8C=) c.5877-29C= (n.5877-29C=) n.8197-8C= n.7186-8C= | |
| 12 | g.49042338G>T | CA2581085230 | KMT2D | c.680-29C>A c.5868-8C>A (n.5868-8C>A) c.5877-8C>A (n.5877-8C>A) c.5865-8C>A (n.5865-8C>A) c.5874-8C>A (n.5874-8C>A) c.5877-29C>A (n.5877-29C>A) n.8197-8C>A n.7186-8C>A | gnomAD v4 |
| 12 | g.49042339C>A | CA2618609562 | KMT2D | c.680-30G>T c.5868-9G>T (n.5868-9G>T) c.5877-9G>T (n.5877-9G>T) c.5865-9G>T (n.5865-9G>T) c.5874-9G>T (n.5874-9G>T) c.5877-30G>T (n.5877-30G>T) n.8197-9G>T n.7186-9G>T | gnomAD v4 |
| 12 | g.49042339C>T | CA2618609563 | KMT2D | c.680-30G>A c.5868-9G>A (n.5868-9G>A) c.5877-9G>A (n.5877-9G>A) c.5865-9G>A (n.5865-9G>A) c.5874-9G>A (n.5874-9G>A) c.5877-30G>A (n.5877-30G>A) n.8197-9G>A n.7186-9G>A | gnomAD v4 |
| 12 | g.49042340A= | CA2034948094 | KMT2D | c.680-31T= c.5868-10T= (n.5868-10T=) c.5877-10T= (n.5877-10T=) c.5865-10T= (n.5865-10T=) c.5874-10T= (n.5874-10T=) c.5877-31T= (n.5877-31T=) n.8197-10T= n.7186-10T= | |
| 12 | g.49042340A>G | CA6547410 | KMT2D | c.680-31T>C c.5868-10T>C (n.5868-10T>C) c.5877-10T>C (n.5877-10T>C) c.5865-10T>C (n.5865-10T>C) c.5874-10T>C (n.5874-10T>C) c.5877-31T>C (n.5877-31T>C) n.8197-10T>C n.7186-10T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49042340A>T | CA2618609564 | KMT2D | c.680-31T>A c.5868-10T>A (n.5868-10T>A) c.5877-10T>A (n.5877-10T>A) c.5865-10T>A (n.5865-10T>A) c.5874-10T>A (n.5874-10T>A) c.5877-31T>A (n.5877-31T>A) n.8197-10T>A n.7186-10T>A | gnomAD v4 |
| 12 | g.49042341G>A | CA2618609566 | KMT2D | c.680-32C>T c.5868-11C>T (n.5868-11C>T) c.5877-11C>T (n.5877-11C>T) c.5865-11C>T (n.5865-11C>T) c.5874-11C>T (n.5874-11C>T) c.5877-32C>T (n.5877-32C>T) n.8197-11C>T n.7186-11C>T | gnomAD v4 |
| 12 | g.49042341G>T | CA2618609567 | KMT2D | c.680-32C>A c.5868-11C>A (n.5868-11C>A) c.5877-11C>A (n.5877-11C>A) c.5865-11C>A (n.5865-11C>A) c.5874-11C>A (n.5874-11C>A) c.5877-32C>A (n.5877-32C>A) n.8197-11C>A n.7186-11C>A | gnomAD v4 |
| 12 | g.49042344del | CA2618609565 | KMT2D | c.680-32del c.5868-11del (n.5868-11del) c.5877-11del (n.5877-11del) c.5865-11del (n.5865-11del) c.5874-11del (n.5874-11del) c.5877-32del (n.5877-32del) n.8197-11del n.7186-11del | gnomAD v4 |
| 12 | g.49042342G>A | CA2034948097 | KMT2D | c.680-33C>T c.5868-12C>T (n.5868-12C>T) c.5877-12C>T (n.5877-12C>T) c.5865-12C>T (n.5865-12C>T) c.5874-12C>T (n.5874-12C>T) c.5877-33C>T (n.5877-33C>T) n.8197-12C>T n.7186-12C>T | dbSNP gnomAD v4 |
| 12 | g.49042342G>C | CA2618609568 | KMT2D | c.680-33C>G c.5868-12C>G (n.5868-12C>G) c.5877-12C>G (n.5877-12C>G) c.5865-12C>G (n.5865-12C>G) c.5874-12C>G (n.5874-12C>G) c.5877-33C>G (n.5877-33C>G) n.8197-12C>G n.7186-12C>G | gnomAD v4 |
| 12 | g.49042342G= | CA2034948096 | KMT2D | c.680-33C= c.5868-12C= (n.5868-12C=) c.5877-12C= (n.5877-12C=) c.5865-12C= (n.5865-12C=) c.5874-12C= (n.5874-12C=) c.5877-33C= (n.5877-33C=) n.8197-12C= n.7186-12C= | |
| 12 | g.49042342G>T | CA2618609569 | KMT2D | c.680-33C>A c.5868-12C>A (n.5868-12C>A) c.5877-12C>A (n.5877-12C>A) c.5865-12C>A (n.5865-12C>A) c.5874-12C>A (n.5874-12C>A) c.5877-33C>A (n.5877-33C>A) n.8197-12C>A n.7186-12C>A | gnomAD v4 |
| 12 | g.49042343G>A | CA2618609571 | KMT2D | c.680-34C>T c.5868-13C>T (n.5868-13C>T) c.5877-13C>T (n.5877-13C>T) c.5865-13C>T (n.5865-13C>T) c.5874-13C>T (n.5874-13C>T) c.5877-34C>T (n.5877-34C>T) n.8197-13C>T n.7186-13C>T | gnomAD v4 |
| 12 | g.49042343G>T | CA2618609570 | KMT2D | c.680-34C>A c.5868-13C>A (n.5868-13C>A) c.5877-13C>A (n.5877-13C>A) c.5865-13C>A (n.5865-13C>A) c.5874-13C>A (n.5874-13C>A) c.5877-34C>A (n.5877-34C>A) n.8197-13C>A n.7186-13C>A | gnomAD v4 |
| 12 | g.49042344G>A | CA605233911 | KMT2D | c.680-35C>T c.5868-14C>T (n.5868-14C>T) c.5877-14C>T (n.5877-14C>T) c.5865-14C>T (n.5865-14C>T) c.5874-14C>T (n.5874-14C>T) c.5877-35C>T (n.5877-35C>T) n.8197-14C>T n.7186-14C>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49042344G>C | CA2034948100 | KMT2D | c.680-35C>G c.5868-14C>G (n.5868-14C>G) c.5877-14C>G (n.5877-14C>G) c.5865-14C>G (n.5865-14C>G) c.5874-14C>G (n.5874-14C>G) c.5877-35C>G (n.5877-35C>G) n.8197-14C>G n.7186-14C>G | dbSNP gnomAD v4 |
| 12 | g.49042344G= | CA2034948102 | KMT2D | c.680-35C= c.5868-14C= (n.5868-14C=) c.5877-14C= (n.5877-14C=) c.5865-14C= (n.5865-14C=) c.5874-14C= (n.5874-14C=) c.5877-35C= (n.5877-35C=) n.8197-14C= n.7186-14C= | |
| 12 | g.49042344G>T | CA2618609572 | KMT2D | c.680-35C>A c.5868-14C>A (n.5868-14C>A) c.5877-14C>A (n.5877-14C>A) c.5865-14C>A (n.5865-14C>A) c.5874-14C>A (n.5874-14C>A) c.5877-35C>A (n.5877-35C>A) n.8197-14C>A n.7186-14C>A | gnomAD v4 |
| 12 | g.49042345C>A | CA2618609573 | KMT2D | c.680-36G>T c.5868-15G>T (n.5868-15G>T) c.5877-15G>T (n.5877-15G>T) c.5865-15G>T (n.5865-15G>T) c.5874-15G>T (n.5874-15G>T) c.5877-36G>T (n.5877-36G>T) n.8197-15G>T n.7186-15G>T | gnomAD v4 |
| 12 | g.49042345C>T | CA2618609574 | KMT2D | c.680-36G>A c.5868-15G>A (n.5868-15G>A) c.5877-15G>A (n.5877-15G>A) c.5865-15G>A (n.5865-15G>A) c.5874-15G>A (n.5874-15G>A) c.5877-36G>A (n.5877-36G>A) n.8197-15G>A n.7186-15G>A | dbSNP gnomAD v4 |
| 12 | g.49042345_49042347delinsCAG | CA2034948104 | KMT2D | c.680-38_680-36delinsCTG c.5868-17_5868-15delinsCTG (n.5868-17_5868-15delinsCTG) c.5877-17_5877-15delinsCTG (n.5877-17_5877-15delinsCTG) c.5865-17_5865-15delinsCTG (n.5865-17_5865-15delinsCTG) c.5874-17_5874-15delinsCTG (n.5874-17_5874-15delinsCTG) c.5877-38_5877-36delinsCTG (n.5877-38_5877-36delinsCTG) n.8197-17_8197-15delinsCTG n.7186-17_7186-15delinsCTG | |
| 12 | g.49042346A>G | CA2618609575 | KMT2D | c.680-37T>C c.5868-16T>C (n.5868-16T>C) c.5877-16T>C (n.5877-16T>C) c.5865-16T>C (n.5865-16T>C) c.5874-16T>C (n.5874-16T>C) c.5877-37T>C (n.5877-37T>C) n.8197-16T>C n.7186-16T>C | gnomAD v4 |
| 12 | g.49042350_49042351del | CA236612577 | KMT2D | c.680-38_680-37del c.5868-17_5868-16del (n.5868-17_5868-16del) c.5877-17_5877-16del (n.5877-17_5877-16del) c.5865-17_5865-16del (n.5865-17_5865-16del) c.5874-17_5874-16del (n.5874-17_5874-16del) c.5877-38_5877-37del (n.5877-38_5877-37del) n.8197-17_8197-16del n.7186-17_7186-16del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49042347G>A | CA236612581 | KMT2D | c.680-38C>T c.5868-17C>T (n.5868-17C>T) c.5877-17C>T (n.5877-17C>T) c.5865-17C>T (n.5865-17C>T) c.5874-17C>T (n.5874-17C>T) c.5877-38C>T (n.5877-38C>T) n.8197-17C>T n.7186-17C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49042347G= | CA2034948107 | KMT2D | c.680-38C= c.5868-17C= (n.5868-17C=) c.5877-17C= (n.5877-17C=) c.5865-17C= (n.5865-17C=) c.5874-17C= (n.5874-17C=) c.5877-38C= (n.5877-38C=) n.8197-17C= n.7186-17C= | |
| 12 | g.49042347G>T | CA2618609576 | KMT2D | c.680-38C>A c.5868-17C>A (n.5868-17C>A) c.5877-17C>A (n.5877-17C>A) c.5865-17C>A (n.5865-17C>A) c.5874-17C>A (n.5874-17C>A) c.5877-38C>A (n.5877-38C>A) n.8197-17C>A n.7186-17C>A | gnomAD v4 |
| 12 | g.49042349G>C | CA2575144781 | KMT2D | c.680-40C>G c.5868-19C>G (n.5868-19C>G) c.5877-19C>G (n.5877-19C>G) c.5865-19C>G (n.5865-19C>G) c.5874-19C>G (n.5874-19C>G) c.5877-40C>G (n.5877-40C>G) n.8197-19C>G n.7186-19C>G | gnomAD v4 |
| 12 | g.49042349G>T | CA2618609578 | KMT2D | c.680-40C>A c.5868-19C>A (n.5868-19C>A) c.5877-19C>A (n.5877-19C>A) c.5865-19C>A (n.5865-19C>A) c.5874-19C>A (n.5874-19C>A) c.5877-40C>A (n.5877-40C>A) n.8197-19C>A n.7186-19C>A | gnomAD v4 |
| 12 | g.49042350A>G | CA2575144782 | KMT2D | c.680-41T>C c.5868-20T>C (n.5868-20T>C) c.5877-20T>C (n.5877-20T>C) c.5865-20T>C (n.5865-20T>C) c.5874-20T>C (n.5874-20T>C) c.5877-41T>C (n.5877-41T>C) n.8197-20T>C n.7186-20T>C | |
| 12 | g.49042350A>T | CA2618609579 | KMT2D | c.680-41T>A c.5868-20T>A (n.5868-20T>A) c.5877-20T>A (n.5877-20T>A) c.5865-20T>A (n.5865-20T>A) c.5874-20T>A (n.5874-20T>A) c.5877-41T>A (n.5877-41T>A) n.8197-20T>A n.7186-20T>A | gnomAD v4 |
| 12 | g.49042351G>A | CA2618609580 | KMT2D | c.680-42C>T c.5868-21C>T (n.5868-21C>T) c.5877-21C>T (n.5877-21C>T) c.5865-21C>T (n.5865-21C>T) c.5874-21C>T (n.5874-21C>T) c.5877-42C>T (n.5877-42C>T) n.8197-21C>T n.7186-21C>T | gnomAD v4 |
| 12 | g.49042352T>C | CA2618609581 | KMT2D | c.680-43A>G c.5868-22A>G (n.5868-22A>G) c.5877-22A>G (n.5877-22A>G) c.5865-22A>G (n.5865-22A>G) c.5874-22A>G (n.5874-22A>G) c.5877-43A>G (n.5877-43A>G) n.8197-22A>G n.7186-22A>G | gnomAD v4 |
| 12 | g.49042352T>G | CA2034948110 | KMT2D | c.680-43A>C c.5868-22A>C (n.5868-22A>C) c.5877-22A>C (n.5877-22A>C) c.5865-22A>C (n.5865-22A>C) c.5874-22A>C (n.5874-22A>C) c.5877-43A>C (n.5877-43A>C) n.8197-22A>C n.7186-22A>C | dbSNP |
| 12 | g.49042352T= | CA2034948109 | KMT2D | c.680-43A= c.5868-22A= (n.5868-22A=) c.5877-22A= (n.5877-22A=) c.5865-22A= (n.5865-22A=) c.5874-22A= (n.5874-22A=) c.5877-43A= (n.5877-43A=) n.8197-22A= n.7186-22A= |