| 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.49042219_49042221dup | CA2739272018 | KMT2D | c.769_771dup c.5978_5980dup (p.Gly1993_Asp1994insGly) c.5987_5989dup (p.Gly1996_Asp1997insGly) c.90_92dup c.5975_5977dup (p.Gly1992_Asp1993insGly) c.5984_5986dup (p.Gly1995_Asp1996insGly) c.5966_5968dup (p.Gly1989_Asp1990insGly) n.8307_8309dup n.7296_7298dup | ClinVar |
| 12 | g.49042220C>A | CA236612525 | KMT2D | c.769G>T c.5978G>T (p.Gly1993Val) c.5987G>T (p.Gly1996Val) c.90G>T c.5975G>T (p.Gly1992Val) c.5984G>T (p.Gly1995Val) c.5966G>T (p.Gly1989Val) n.8307G>T n.7296G>T | dbSNP |
| 12 | g.49042220C= | CA2034947941 | KMT2D | c.769G= c.5978G= (p.Gly1993=) c.5987G= (p.Gly1996=) c.90G= c.5975G= (p.Gly1992=) c.5984G= (p.Gly1995=) c.5966G= (p.Gly1989=) n.8307G= n.7296G= | |
| 12 | g.49042220C>G | CA384627252 | KMT2D | c.769G>C c.5978G>C (p.Gly1993Ala) c.5987G>C (p.Gly1996Ala) c.90G>C c.5975G>C (p.Gly1992Ala) c.5984G>C (p.Gly1995Ala) c.5966G>C (p.Gly1989Ala) n.8307G>C n.7296G>C | |
| 12 | g.49042220C>T | CA384627254 | KMT2D | c.769G>A c.5978G>A (p.Gly1993Asp) c.5987G>A (p.Gly1996Asp) c.90G>A c.5975G>A (p.Gly1992Asp) c.5984G>A (p.Gly1995Asp) c.5966G>A (p.Gly1989Asp) n.8307G>A n.7296G>A | |
| 12 | g.49042221C>A | CA384627261 | KMT2D | c.768G>T c.5977G>T (p.Gly1993Cys) c.5986G>T (p.Gly1996Cys) c.89G>T c.5974G>T (p.Gly1992Cys) c.5983G>T (p.Gly1995Cys) c.5965G>T (p.Gly1989Cys) n.8306G>T n.7295G>T | |
| 12 | g.49042221C>G | CA384627259 | KMT2D | c.768G>C c.5977G>C (p.Gly1993Arg) c.5986G>C (p.Gly1996Arg) c.89G>C c.5974G>C (p.Gly1992Arg) c.5983G>C (p.Gly1995Arg) c.5965G>C (p.Gly1989Arg) n.8306G>C n.7295G>C | |
| 12 | g.49042221C>T | CA384627256 | KMT2D | c.768G>A c.5977G>A (p.Gly1993Ser) c.5986G>A (p.Gly1996Ser) c.89G>A c.5974G>A (p.Gly1992Ser) c.5983G>A (p.Gly1995Ser) c.5965G>A (p.Gly1989Ser) n.8306G>A n.7295G>A | dbSNP gnomAD v4 |
| 12 | g.49042222C>A | CA384627263 | KMT2D | c.767G>T c.5976G>T (p.Glu1992Asp) c.5985G>T (p.Glu1995Asp) c.88G>T c.5973G>T (p.Glu1991Asp) c.5982G>T (p.Glu1994Asp) c.5964G>T (p.Glu1988Asp) n.8305G>T n.7294G>T | dbSNP gnomAD v4 |
| 12 | g.49042222C= | CA2034947950 | KMT2D | c.767G= c.5976G= (p.Glu1992=) c.5985G= (p.Glu1995=) c.88G= c.5973G= (p.Glu1991=) c.5982G= (p.Glu1994=) c.5964G= (p.Glu1988=) n.8305G= n.7294G= | |
| 12 | g.49042222C>G | CA384627264 | KMT2D | c.767G>C c.5976G>C (p.Glu1992Asp) c.5985G>C (p.Glu1995Asp) c.88G>C c.5973G>C (p.Glu1991Asp) c.5982G>C (p.Glu1994Asp) c.5964G>C (p.Glu1988Asp) n.8305G>C n.7294G>C | |
| 12 | g.49042222C>T | CA147697 | KMT2D | c.767G>A c.5976G>A (p.Glu1992=) c.5985G>A (p.Glu1995=) c.88G>A c.5973G>A (p.Glu1991=) c.5982G>A (p.Glu1994=) c.5964G>A (p.Glu1988=) n.8305G>A n.7294G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49042223T>A | CA384627268 | KMT2D | c.766A>T c.5975A>T (p.Glu1992Val) c.5984A>T (p.Glu1995Val) c.87A>T c.5972A>T (p.Glu1991Val) c.5981A>T (p.Glu1994Val) c.5963A>T (p.Glu1988Val) n.8304A>T n.7293A>T | |
| 12 | g.49042223T>C | CA384627271 | KMT2D | c.766A>G c.5975A>G (p.Glu1992Gly) c.5984A>G (p.Glu1995Gly) c.87A>G c.5972A>G (p.Glu1991Gly) c.5981A>G (p.Glu1994Gly) c.5963A>G (p.Glu1988Gly) n.8304A>G n.7293A>G | |
| 12 | g.49042223T>G | CA384627274 | KMT2D | c.766A>C c.5975A>C (p.Glu1992Ala) c.5984A>C (p.Glu1995Ala) c.87A>C c.5972A>C (p.Glu1991Ala) c.5981A>C (p.Glu1994Ala) c.5963A>C (p.Glu1988Ala) n.8304A>C n.7293A>C | |
| 12 | g.49042224C>A | CA384627275 | KMT2D | c.765G>T c.5974G>T (p.Glu1992Ter) c.5983G>T (p.Glu1995Ter) c.86G>T c.5971G>T (p.Glu1991Ter) c.5980G>T (p.Glu1994Ter) c.5962G>T (p.Glu1988Ter) n.8303G>T n.7292G>T | |
| 12 | g.49042224C>G | CA384627278 | KMT2D | c.765G>C c.5974G>C (p.Glu1992Gln) c.5983G>C (p.Glu1995Gln) c.86G>C c.5971G>C (p.Glu1991Gln) c.5980G>C (p.Glu1994Gln) c.5962G>C (p.Glu1988Gln) n.8303G>C n.7292G>C | |
| 12 | g.49042224C>T | CA384627279 | KMT2D | c.765G>A c.5974G>A (p.Glu1992Lys) c.5983G>A (p.Glu1995Lys) c.86G>A c.5971G>A (p.Glu1991Lys) c.5980G>A (p.Glu1994Lys) c.5962G>A (p.Glu1988Lys) n.8303G>A n.7292G>A | gnomAD v4 |
| 12 | g.49042225A>C | CA479712479 | KMT2D | c.764T>G c.5973T>G (p.Gly1991=) c.5982T>G (p.Gly1994=) c.85T>G c.5970T>G (p.Gly1990=) c.5979T>G (p.Gly1993=) c.5961T>G (p.Gly1987=) n.8302T>G n.7291T>G | |
| 12 | g.49042225A>G | CA479712481 | KMT2D | c.764T>C c.5973T>C (p.Gly1991=) c.5982T>C (p.Gly1994=) c.85T>C c.5970T>C (p.Gly1990=) c.5979T>C (p.Gly1993=) c.5961T>C (p.Gly1987=) n.8302T>C n.7291T>C | |
| 12 | g.49042225A>T | CA479712476 | KMT2D | c.764T>A c.5973T>A (p.Gly1991=) c.5982T>A (p.Gly1994=) c.85T>A c.5970T>A (p.Gly1990=) c.5979T>A (p.Gly1993=) c.5961T>A (p.Gly1987=) n.8302T>A n.7291T>A | |
| 12 | g.49042226C>A | CA384627281 | KMT2D | c.763G>T c.5972G>T (p.Gly1991Val) c.5981G>T (p.Gly1994Val) c.84G>T c.5969G>T (p.Gly1990Val) c.5978G>T (p.Gly1993Val) c.5960G>T (p.Gly1987Val) n.8301G>T n.7290G>T | gnomAD v4 |
| 12 | g.49042226C>G | CA384627283 | KMT2D | c.763G>C c.5972G>C (p.Gly1991Ala) c.5981G>C (p.Gly1994Ala) c.84G>C c.5969G>C (p.Gly1990Ala) c.5978G>C (p.Gly1993Ala) c.5960G>C (p.Gly1987Ala) n.8301G>C n.7290G>C | |
| 12 | g.49042226C>T | CA384627284 | KMT2D | c.763G>A c.5972G>A (p.Gly1991Asp) c.5981G>A (p.Gly1994Asp) c.84G>A c.5969G>A (p.Gly1990Asp) c.5978G>A (p.Gly1993Asp) c.5960G>A (p.Gly1987Asp) n.8301G>A n.7290G>A | gnomAD v4 |
| 12 | g.49042227C>A | CA384627291 | KMT2D | c.762G>T c.5971G>T (p.Gly1991Cys) c.5980G>T (p.Gly1994Cys) c.83G>T c.5968G>T (p.Gly1990Cys) c.5977G>T (p.Gly1993Cys) c.5959G>T (p.Gly1987Cys) n.8300G>T n.7289G>T | |
| 12 | g.49042227C= | CA2034947954 | KMT2D | c.762G= c.5971G= (p.Gly1991=) c.5980G= (p.Gly1994=) c.83G= c.5968G= (p.Gly1990=) c.5977G= (p.Gly1993=) c.5959G= (p.Gly1987=) n.8300G= n.7289G= | |
| 12 | g.49042227C>G | CA384627290 | KMT2D | c.762G>C c.5971G>C (p.Gly1991Arg) c.5980G>C (p.Gly1994Arg) c.83G>C c.5968G>C (p.Gly1990Arg) c.5977G>C (p.Gly1993Arg) c.5959G>C (p.Gly1987Arg) n.8300G>C n.7289G>C | ClinVar dbSNP |
| 12 | g.49042227C>T | CA384627287 | KMT2D | c.762G>A c.5971G>A (p.Gly1991Ser) c.5980G>A (p.Gly1994Ser) c.83G>A c.5968G>A (p.Gly1990Ser) c.5977G>A (p.Gly1993Ser) c.5959G>A (p.Gly1987Ser) n.8300G>A n.7289G>A | gnomAD v4 |
| 12 | g.49042228C>A | CA384627294 | KMT2D | c.761G>T c.5970G>T (p.Glu1990Asp) c.5979G>T (p.Glu1993Asp) c.82G>T c.5967G>T (p.Glu1989Asp) c.5976G>T (p.Glu1992Asp) c.5958G>T (p.Glu1986Asp) n.8299G>T n.7288G>T | dbSNP gnomAD v4 |
| 12 | g.49042228C>G | CA384627295 | KMT2D | c.761G>C c.5970G>C (p.Glu1990Asp) c.5979G>C (p.Glu1993Asp) c.82G>C c.5967G>C (p.Glu1989Asp) c.5976G>C (p.Glu1992Asp) c.5958G>C (p.Glu1986Asp) n.8299G>C n.7288G>C | |
| 12 | g.49042228C>T | CA479712487 | KMT2D | c.761G>A c.5970G>A (p.Glu1990=) c.5979G>A (p.Glu1993=) c.82G>A c.5967G>A (p.Glu1989=) c.5976G>A (p.Glu1992=) c.5958G>A (p.Glu1986=) n.8299G>A n.7288G>A | |
| 12 | g.49042229T>A | CA384627298 | KMT2D | c.760A>T c.5969A>T (p.Glu1990Val) c.5978A>T (p.Glu1993Val) c.81A>T c.5966A>T (p.Glu1989Val) c.5975A>T (p.Glu1992Val) c.5957A>T (p.Glu1986Val) n.8298A>T n.7287A>T | |
| 12 | g.49042229T>C | CA384627299 | KMT2D | c.760A>G c.5969A>G (p.Glu1990Gly) c.5978A>G (p.Glu1993Gly) c.81A>G c.5966A>G (p.Glu1989Gly) c.5975A>G (p.Glu1992Gly) c.5957A>G (p.Glu1986Gly) n.8298A>G n.7287A>G | |
| 12 | g.49042229T>G | CA384627302 | KMT2D | c.760A>C c.5969A>C (p.Glu1990Ala) c.5978A>C (p.Glu1993Ala) c.81A>C c.5966A>C (p.Glu1989Ala) c.5975A>C (p.Glu1992Ala) c.5957A>C (p.Glu1986Ala) n.8298A>C n.7287A>C | |
| 12 | g.49042230C>A | CA384627304 | KMT2D | c.759G>T c.5968G>T (p.Glu1990Ter) c.5977G>T (p.Glu1993Ter) c.80G>T c.5965G>T (p.Glu1989Ter) c.5974G>T (p.Glu1992Ter) c.5956G>T (p.Glu1986Ter) n.8297G>T n.7286G>T | |
| 12 | g.49042230C>G | CA384627306 | KMT2D | c.759G>C c.5968G>C (p.Glu1990Gln) c.5977G>C (p.Glu1993Gln) c.80G>C c.5965G>C (p.Glu1989Gln) c.5974G>C (p.Glu1992Gln) c.5956G>C (p.Glu1986Gln) n.8297G>C n.7286G>C | |
| 12 | g.49042230C>T | CA384627308 | KMT2D | c.759G>A c.5968G>A (p.Glu1990Lys) c.5977G>A (p.Glu1993Lys) c.80G>A c.5965G>A (p.Glu1989Lys) c.5974G>A (p.Glu1992Lys) c.5956G>A (p.Glu1986Lys) n.8297G>A n.7286G>A | gnomAD v4 |
| 12 | g.49042231C>A | CA6547389 | KMT2D | c.758G>T c.5967G>T (p.Thr1989=) c.5976G>T (p.Thr1992=) c.79G>T c.5964G>T (p.Thr1988=) c.5973G>T (p.Thr1991=) c.5955G>T (p.Thr1985=) n.8296G>T n.7285G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49042231C= | CA2034947957 | KMT2D | c.758G= c.5967G= (p.Thr1989=) c.5976G= (p.Thr1992=) c.79G= c.5964G= (p.Thr1988=) c.5973G= (p.Thr1991=) c.5955G= (p.Thr1985=) n.8296G= n.7285G= | |
| 12 | g.49042231C>G | CA479712488 | KMT2D | c.758G>C c.5967G>C (p.Thr1989=) c.5976G>C (p.Thr1992=) c.79G>C c.5964G>C (p.Thr1988=) c.5973G>C (p.Thr1991=) c.5955G>C (p.Thr1985=) n.8296G>C n.7285G>C | dbSNP |
| 12 | g.49042231C>T | CA6547388 | KMT2D | c.758G>A c.5967G>A (p.Thr1989=) c.5976G>A (p.Thr1992=) c.79G>A c.5964G>A (p.Thr1988=) c.5973G>A (p.Thr1991=) c.5955G>A (p.Thr1985=) n.8296G>A n.7285G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49042232G>A | CA6547390 | KMT2D | c.757C>T c.5966C>T (p.Thr1989Met) c.5975C>T (p.Thr1992Met) c.78C>T c.5963C>T (p.Thr1988Met) c.5972C>T (p.Thr1991Met) c.5954C>T (p.Thr1985Met) n.8295C>T n.7284C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49042232G>C | CA384627313 | KMT2D | c.757C>G c.5966C>G (p.Thr1989Arg) c.5975C>G (p.Thr1992Arg) c.78C>G c.5963C>G (p.Thr1988Arg) c.5972C>G (p.Thr1991Arg) c.5954C>G (p.Thr1985Arg) n.8295C>G n.7284C>G | dbSNP |
| 12 | g.49042232G= | CA2034947960 | KMT2D | c.757C= c.5966C= (p.Thr1989=) c.5975C= (p.Thr1992=) c.78C= c.5963C= (p.Thr1988=) c.5972C= (p.Thr1991=) c.5954C= (p.Thr1985=) n.8295C= n.7284C= | |
| 12 | g.49042232G>T | CA384627314 | KMT2D | c.757C>A c.5966C>A (p.Thr1989Lys) c.5975C>A (p.Thr1992Lys) c.78C>A c.5963C>A (p.Thr1988Lys) c.5972C>A (p.Thr1991Lys) c.5954C>A (p.Thr1985Lys) n.8295C>A n.7284C>A | |
| 12 | g.49042233T>A | CA384627321 | KMT2D | c.756A>T c.5965A>T (p.Thr1989Ser) c.5974A>T (p.Thr1992Ser) c.77A>T c.5962A>T (p.Thr1988Ser) c.5971A>T (p.Thr1991Ser) c.5953A>T (p.Thr1985Ser) n.8294A>T n.7283A>T | |
| 12 | g.49042233T>C | CA384627319 | KMT2D | c.756A>G c.5965A>G (p.Thr1989Ala) c.5974A>G (p.Thr1992Ala) c.77A>G c.5962A>G (p.Thr1988Ala) c.5971A>G (p.Thr1991Ala) c.5953A>G (p.Thr1985Ala) n.8294A>G n.7283A>G | |
| 12 | g.49042233T>G | CA384627317 | KMT2D | c.756A>C c.5965A>C (p.Thr1989Pro) c.5974A>C (p.Thr1992Pro) c.77A>C c.5962A>C (p.Thr1988Pro) c.5971A>C (p.Thr1991Pro) c.5953A>C (p.Thr1985Pro) n.8294A>C n.7283A>C | |
| 12 | g.49042234G>A | CA479712495 | KMT2D | c.755C>T c.5964C>T (p.Thr1988=) c.5973C>T (p.Thr1991=) c.76C>T c.5961C>T (p.Thr1987=) c.5970C>T (p.Thr1990=) c.5952C>T (p.Thr1984=) n.8293C>T n.7282C>T | dbSNP gnomAD v4 COSMIC COSMIC |
| 12 | g.49042234G>C | CA479712497 | KMT2D | c.755C>G c.5964C>G (p.Thr1988=) c.5973C>G (p.Thr1991=) c.76C>G c.5961C>G (p.Thr1987=) c.5970C>G (p.Thr1990=) c.5952C>G (p.Thr1984=) n.8293C>G n.7282C>G | |
| 12 | g.49042234G>T | CA479712499 | KMT2D | c.755C>A c.5964C>A (p.Thr1988=) c.5973C>A (p.Thr1991=) c.76C>A c.5961C>A (p.Thr1987=) c.5970C>A (p.Thr1990=) c.5952C>A (p.Thr1984=) n.8293C>A n.7282C>A | gnomAD v4 |
| 12 | g.49042235G>A | CA384627323 | KMT2D | c.754C>T c.5963C>T (p.Thr1988Ile) c.5972C>T (p.Thr1991Ile) c.75C>T c.5960C>T (p.Thr1987Ile) c.5969C>T (p.Thr1990Ile) c.5951C>T (p.Thr1984Ile) n.8292C>T n.7281C>T | dbSNP gnomAD v4 |
| 12 | g.49042235G>C | CA384627326 | KMT2D | c.754C>G c.5963C>G (p.Thr1988Ser) c.5972C>G (p.Thr1991Ser) c.75C>G c.5960C>G (p.Thr1987Ser) c.5969C>G (p.Thr1990Ser) c.5951C>G (p.Thr1984Ser) n.8292C>G n.7281C>G | |
| 12 | g.49042235G= | CA2034947963 | KMT2D | c.754C= c.5963C= (p.Thr1988=) c.5972C= (p.Thr1991=) c.75C= c.5960C= (p.Thr1987=) c.5969C= (p.Thr1990=) c.5951C= (p.Thr1984=) n.8292C= n.7281C= | |
| 12 | g.49042235G>T | CA384627327 | KMT2D | c.754C>A c.5963C>A (p.Thr1988Asn) c.5972C>A (p.Thr1991Asn) c.75C>A c.5960C>A (p.Thr1987Asn) c.5969C>A (p.Thr1990Asn) c.5951C>A (p.Thr1984Asn) n.8292C>A n.7281C>A | |
| 12 | g.49042236del | CA645579722 | KMT2D | c.753del c.5962del (p.Thr1988ProfsTer?) c.5971del (p.Thr1991ProfsTer?) c.74del c.5959del (p.Thr1987ProfsTer?) c.5968del (p.Thr1990ProfsTer?) c.5950del (p.Thr1984ProfsTer?) n.8291del n.7280del | COSMIC COSMIC |
| 12 | g.49042236T>A | CA384627329 | KMT2D | c.753A>T c.5962A>T (p.Thr1988Ser) c.5971A>T (p.Thr1991Ser) c.74A>T c.5959A>T (p.Thr1987Ser) c.5968A>T (p.Thr1990Ser) c.5950A>T (p.Thr1984Ser) n.8291A>T n.7280A>T | |
| 12 | g.49042236T>C | CA384627330 | KMT2D | c.753A>G c.5962A>G (p.Thr1988Ala) c.5971A>G (p.Thr1991Ala) c.74A>G c.5959A>G (p.Thr1987Ala) c.5968A>G (p.Thr1990Ala) c.5950A>G (p.Thr1984Ala) n.8291A>G n.7280A>G | |
| 12 | g.49042236T>G | CA384627333 | KMT2D | c.753A>C c.5962A>C (p.Thr1988Pro) c.5971A>C (p.Thr1991Pro) c.74A>C c.5959A>C (p.Thr1987Pro) c.5968A>C (p.Thr1990Pro) c.5950A>C (p.Thr1984Pro) n.8291A>C n.7280A>C | |
| 12 | g.49042237G>A | CA479712503 | KMT2D | c.752C>T c.5961C>T (p.Pro1987=) c.5970C>T (p.Pro1990=) c.73C>T c.5958C>T (p.Pro1986=) c.5967C>T (p.Pro1989=) c.5949C>T (p.Pro1983=) n.8290C>T n.7279C>T | gnomAD v4 |
| 12 | g.49042237G>C | CA479712509 | KMT2D | c.752C>G c.5961C>G (p.Pro1987=) c.5970C>G (p.Pro1990=) c.73C>G c.5958C>G (p.Pro1986=) c.5967C>G (p.Pro1989=) c.5949C>G (p.Pro1983=) n.8290C>G n.7279C>G | |
| 12 | g.49042237G>T | CA479712506 | KMT2D | c.752C>A c.5961C>A (p.Pro1987=) c.5970C>A (p.Pro1990=) c.73C>A c.5958C>A (p.Pro1986=) c.5967C>A (p.Pro1989=) c.5949C>A (p.Pro1983=) n.8290C>A n.7279C>A | dbSNP |
| 12 | g.49042238G>A | CA384627334 | KMT2D | c.751C>T c.5960C>T (p.Pro1987Leu) c.5969C>T (p.Pro1990Leu) c.72C>T c.5957C>T (p.Pro1986Leu) c.5966C>T (p.Pro1989Leu) c.5948C>T (p.Pro1983Leu) n.8289C>T n.7278C>T | dbSNP gnomAD v2 |
| 12 | g.49042238G>C | CA384627335 | KMT2D | c.751C>G c.5960C>G (p.Pro1987Arg) c.5969C>G (p.Pro1990Arg) c.72C>G c.5957C>G (p.Pro1986Arg) c.5966C>G (p.Pro1989Arg) c.5948C>G (p.Pro1983Arg) n.8289C>G n.7278C>G | gnomAD v4 |
| 12 | g.49042238G= | CA2034947967 | KMT2D | c.751C= c.5960C= (p.Pro1987=) c.5969C= (p.Pro1990=) c.72C= c.5957C= (p.Pro1986=) c.5966C= (p.Pro1989=) c.5948C= (p.Pro1983=) n.8289C= n.7278C= | |
| 12 | g.49042238G>T | CA384627338 | KMT2D | c.751C>A c.5960C>A (p.Pro1987His) c.5969C>A (p.Pro1990His) c.72C>A c.5957C>A (p.Pro1986His) c.5966C>A (p.Pro1989His) c.5948C>A (p.Pro1983His) n.8289C>A n.7278C>A | |
| 12 | g.49042239G>A | CA384627341 | KMT2D | c.750C>T c.5959C>T (p.Pro1987Ser) c.5968C>T (p.Pro1990Ser) c.71C>T c.5956C>T (p.Pro1986Ser) c.5965C>T (p.Pro1989Ser) c.5947C>T (p.Pro1983Ser) n.8288C>T n.7277C>T | ClinVar gnomAD v4 |
| 12 | g.49042239G>C | CA384627343 | KMT2D | c.750C>G c.5959C>G (p.Pro1987Ala) c.5968C>G (p.Pro1990Ala) c.71C>G c.5956C>G (p.Pro1986Ala) c.5965C>G (p.Pro1989Ala) c.5947C>G (p.Pro1983Ala) n.8288C>G n.7277C>G | |
| 12 | g.49042239G>T | CA384627345 | KMT2D | c.750C>A c.5959C>A (p.Pro1987Thr) c.5968C>A (p.Pro1990Thr) c.71C>A c.5956C>A (p.Pro1986Thr) c.5965C>A (p.Pro1989Thr) c.5947C>A (p.Pro1983Thr) n.8288C>A n.7277C>A | gnomAD v4 |
| 12 | g.49042240G>A | CA479712517 | KMT2D | c.749C>T c.5958C>T (p.Thr1986=) c.5967C>T (p.Thr1989=) c.70C>T c.5955C>T (p.Thr1985=) c.5964C>T (p.Thr1988=) c.5946C>T (p.Thr1982=) n.8287C>T n.7276C>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49042240G>C | CA479712518 | KMT2D | c.749C>G c.5958C>G (p.Thr1986=) c.5967C>G (p.Thr1989=) c.70C>G c.5955C>G (p.Thr1985=) c.5964C>G (p.Thr1988=) c.5946C>G (p.Thr1982=) n.8287C>G n.7276C>G | |
| 12 | g.49042240G= | CA2034947970 | KMT2D | c.749C= c.5958C= (p.Thr1986=) c.5967C= (p.Thr1989=) c.70C= c.5955C= (p.Thr1985=) c.5964C= (p.Thr1988=) c.5946C= (p.Thr1982=) n.8287C= n.7276C= | |
| 12 | g.49042240G>T | CA479712519 | KMT2D | c.749C>A c.5958C>A (p.Thr1986=) c.5967C>A (p.Thr1989=) c.70C>A c.5955C>A (p.Thr1985=) c.5964C>A (p.Thr1988=) c.5946C>A (p.Thr1982=) n.8287C>A n.7276C>A | |
| 12 | g.49042241G>A | CA384627350 | KMT2D | c.748C>T c.5957C>T (p.Thr1986Ile) c.5966C>T (p.Thr1989Ile) c.69C>T c.5954C>T (p.Thr1985Ile) c.5963C>T (p.Thr1988Ile) c.5945C>T (p.Thr1982Ile) n.8286C>T n.7275C>T | dbSNP gnomAD v4 |
| 12 | g.49042241G>C | CA384627352 | KMT2D | c.748C>G c.5957C>G (p.Thr1986Ser) c.5966C>G (p.Thr1989Ser) c.69C>G c.5954C>G (p.Thr1985Ser) c.5963C>G (p.Thr1988Ser) c.5945C>G (p.Thr1982Ser) n.8286C>G n.7275C>G | |
| 12 | g.49042241G= | CA2034947974 | KMT2D | c.748C= c.5957C= (p.Thr1986=) c.5966C= (p.Thr1989=) c.69C= c.5954C= (p.Thr1985=) c.5963C= (p.Thr1988=) c.5945C= (p.Thr1982=) n.8286C= n.7275C= | |
| 12 | g.49042241G>T | CA384627347 | KMT2D | c.748C>A c.5957C>A (p.Thr1986Asn) c.5966C>A (p.Thr1989Asn) c.69C>A c.5954C>A (p.Thr1985Asn) c.5963C>A (p.Thr1988Asn) c.5945C>A (p.Thr1982Asn) n.8286C>A n.7275C>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49042242T>A | CA384627356 | KMT2D | c.747A>T c.5956A>T (p.Thr1986Ser) c.5965A>T (p.Thr1989Ser) c.68A>T c.5953A>T (p.Thr1985Ser) c.5962A>T (p.Thr1988Ser) c.5944A>T (p.Thr1982Ser) n.8285A>T n.7274A>T | dbSNP |
| 12 | g.49042242T>C | CA384627357 | KMT2D | c.747A>G c.5956A>G (p.Thr1986Ala) c.5965A>G (p.Thr1989Ala) c.68A>G c.5953A>G (p.Thr1985Ala) c.5962A>G (p.Thr1988Ala) c.5944A>G (p.Thr1982Ala) n.8285A>G n.7274A>G | gnomAD v4 |
| 12 | g.49042242T>G | CA384627358 | KMT2D | c.747A>C c.5956A>C (p.Thr1986Pro) c.5965A>C (p.Thr1989Pro) c.68A>C c.5953A>C (p.Thr1985Pro) c.5962A>C (p.Thr1988Pro) c.5944A>C (p.Thr1982Pro) n.8285A>C n.7274A>C | dbSNP |
| 12 | g.49042242T= | CA2034947976 | KMT2D | c.747A= c.5956A= (p.Thr1986=) c.5965A= (p.Thr1989=) c.68A= c.5953A= (p.Thr1985=) c.5962A= (p.Thr1988=) c.5944A= (p.Thr1982=) n.8285A= n.7274A= | |
| 12 | g.49042243T>A | CA479712528 | KMT2D | c.746A>T c.5955A>T (p.Thr1985=) c.5964A>T (p.Thr1988=) c.67A>T c.5952A>T (p.Thr1984=) c.5961A>T (p.Thr1987=) c.5943A>T (p.Thr1981=) n.8284A>T n.7273A>T | |
| 12 | g.49042243T>C | CA479712530 | KMT2D | c.746A>G c.5955A>G (p.Thr1985=) c.5964A>G (p.Thr1988=) c.67A>G c.5952A>G (p.Thr1984=) c.5961A>G (p.Thr1987=) c.5943A>G (p.Thr1981=) n.8284A>G n.7273A>G | gnomAD v4 |
| 12 | g.49042243T>G | CA479712533 | KMT2D | c.746A>C c.5955A>C (p.Thr1985=) c.5964A>C (p.Thr1988=) c.67A>C c.5952A>C (p.Thr1984=) c.5961A>C (p.Thr1987=) c.5943A>C (p.Thr1981=) n.8284A>C n.7273A>C | |
| 12 | g.49042244del | CA2695216447 | KMT2D | c.745del c.5954del (p.Thr1985LysfsTer?) c.5963del (p.Thr1988LysfsTer?) c.66del c.5951del (p.Thr1984LysfsTer?) c.5960del (p.Thr1987LysfsTer?) c.5942del (p.Thr1981LysfsTer?) n.8283del n.7272del | |
| 12 | g.49042244G>A | CA384627361 | KMT2D | c.745C>T c.5954C>T (p.Thr1985Ile) c.5963C>T (p.Thr1988Ile) c.66C>T c.5951C>T (p.Thr1984Ile) c.5960C>T (p.Thr1987Ile) c.5942C>T (p.Thr1981Ile) n.8283C>T n.7272C>T | dbSNP |
| 12 | g.49042244G>C | CA384627363 | KMT2D | c.745C>G c.5954C>G (p.Thr1985Arg) c.5963C>G (p.Thr1988Arg) c.66C>G c.5951C>G (p.Thr1984Arg) c.5960C>G (p.Thr1987Arg) c.5942C>G (p.Thr1981Arg) n.8283C>G n.7272C>G | |
| 12 | g.49042244G= | CA2034947978 | KMT2D | c.745C= c.5954C= (p.Thr1985=) c.5963C= (p.Thr1988=) c.66C= c.5951C= (p.Thr1984=) c.5960C= (p.Thr1987=) c.5942C= (p.Thr1981=) n.8283C= n.7272C= | |
| 12 | g.49042244G>T | CA236612533 | KMT2D | c.745C>A c.5954C>A (p.Thr1985Lys) c.5963C>A (p.Thr1988Lys) c.66C>A c.5951C>A (p.Thr1984Lys) c.5960C>A (p.Thr1987Lys) c.5942C>A (p.Thr1981Lys) n.8283C>A n.7272C>A | dbSNP gnomAD v4 |
| 12 | g.49042245T>A | CA384627366 | KMT2D | c.744A>T c.5953A>T (p.Thr1985Ser) c.5962A>T (p.Thr1988Ser) c.65A>T c.5950A>T (p.Thr1984Ser) c.5959A>T (p.Thr1987Ser) c.5941A>T (p.Thr1981Ser) n.8282A>T n.7271A>T | dbSNP |
| 12 | g.49042245T>C | CA384627367 | KMT2D | c.744A>G c.5953A>G (p.Thr1985Ala) c.5962A>G (p.Thr1988Ala) c.65A>G c.5950A>G (p.Thr1984Ala) c.5959A>G (p.Thr1987Ala) c.5941A>G (p.Thr1981Ala) n.8282A>G n.7271A>G | gnomAD v4 |
| 12 | g.49042245T>G | CA384627369 | KMT2D | c.744A>C c.5953A>C (p.Thr1985Pro) c.5962A>C (p.Thr1988Pro) c.65A>C c.5950A>C (p.Thr1984Pro) c.5959A>C (p.Thr1987Pro) c.5941A>C (p.Thr1981Pro) n.8282A>C n.7271A>C | |
| 12 | g.49042246G>A | CA479712545 | KMT2D | c.743C>T c.5952C>T (p.Pro1984=) c.5961C>T (p.Pro1987=) c.64C>T c.5949C>T (p.Pro1983=) c.5958C>T (p.Pro1986=) c.5940C>T (p.Pro1980=) n.8281C>T n.7270C>T | gnomAD v4 |
| 12 | g.49042246G>C | CA479712546 | KMT2D | c.743C>G c.5952C>G (p.Pro1984=) c.5961C>G (p.Pro1987=) c.64C>G c.5949C>G (p.Pro1983=) c.5958C>G (p.Pro1986=) c.5940C>G (p.Pro1980=) n.8281C>G n.7270C>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49042246G= | CA2034947982 | KMT2D | c.743C= c.5952C= (p.Pro1984=) c.5961C= (p.Pro1987=) c.64C= c.5949C= (p.Pro1983=) c.5958C= (p.Pro1986=) c.5940C= (p.Pro1980=) n.8281C= n.7270C= | |
| 12 | g.49042246G>T | CA172430 | KMT2D | c.743C>A c.5952C>A (p.Pro1984=) c.5961C>A (p.Pro1987=) c.64C>A c.5949C>A (p.Pro1983=) c.5958C>A (p.Pro1986=) c.5940C>A (p.Pro1980=) n.8281C>A n.7270C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49042250del | CA2618609479 | KMT2D | c.743del c.5952del (p.Thr1985GlnfsTer?) c.5961del (p.Thr1988GlnfsTer?) c.64del c.5949del (p.Thr1984GlnfsTer?) c.5958del (p.Thr1987GlnfsTer?) c.5940del (p.Thr1981GlnfsTer?) n.8281del n.7270del | gnomAD v4 |
| 12 | g.49042247G>A | CA384627375 | KMT2D | c.742C>T c.5951C>T (p.Pro1984Leu) c.5960C>T (p.Pro1987Leu) c.63C>T c.5948C>T (p.Pro1983Leu) c.5957C>T (p.Pro1986Leu) c.5939C>T (p.Pro1980Leu) n.8280C>T n.7269C>T | gnomAD v4 COSMIC COSMIC |
| 12 | g.49042247G>C | CA384627377 | KMT2D | c.742C>G c.5951C>G (p.Pro1984Arg) c.5960C>G (p.Pro1987Arg) c.63C>G c.5948C>G (p.Pro1983Arg) c.5957C>G (p.Pro1986Arg) c.5939C>G (p.Pro1980Arg) n.8280C>G n.7269C>G | |
| 12 | g.49042247G>T | CA384627380 | KMT2D | c.742C>A c.5951C>A (p.Pro1984His) c.5960C>A (p.Pro1987His) c.63C>A c.5948C>A (p.Pro1983His) c.5957C>A (p.Pro1986His) c.5939C>A (p.Pro1980His) n.8280C>A n.7269C>A | gnomAD v4 |
| 12 | g.49042248G>A | CA384627387 | KMT2D | c.741C>T c.5950C>T (p.Pro1984Ser) c.5959C>T (p.Pro1987Ser) c.62C>T c.5947C>T (p.Pro1983Ser) c.5956C>T (p.Pro1986Ser) c.5938C>T (p.Pro1980Ser) n.8279C>T n.7268C>T | |
| 12 | g.49042248G>C | CA384627385 | KMT2D | c.741C>G c.5950C>G (p.Pro1984Ala) c.5959C>G (p.Pro1987Ala) c.62C>G c.5947C>G (p.Pro1983Ala) c.5956C>G (p.Pro1986Ala) c.5938C>G (p.Pro1980Ala) n.8279C>G n.7268C>G | |
| 12 | g.49042248G>T | CA384627384 | KMT2D | c.741C>A c.5950C>A (p.Pro1984Thr) c.5959C>A (p.Pro1987Thr) c.62C>A c.5947C>A (p.Pro1983Thr) c.5956C>A (p.Pro1986Thr) c.5938C>A (p.Pro1980Thr) n.8279C>A n.7268C>A | gnomAD v4 |
| 12 | g.49042249G>A | CA236612536 | KMT2D | c.740C>T c.5949C>T (p.Thr1983=) c.5958C>T (p.Thr1986=) c.61C>T c.5946C>T (p.Thr1982=) c.5955C>T (p.Thr1985=) c.5937C>T (p.Thr1979=) n.8278C>T n.7267C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49042249G>C | CA479712556 | KMT2D | c.740C>G c.5949C>G (p.Thr1983=) c.5958C>G (p.Thr1986=) c.61C>G c.5946C>G (p.Thr1982=) c.5955C>G (p.Thr1985=) c.5937C>G (p.Thr1979=) n.8278C>G n.7267C>G | |
| 12 | g.49042249G= | CA2034947986 | KMT2D | c.740C= c.5949C= (p.Thr1983=) c.5958C= (p.Thr1986=) c.61C= c.5946C= (p.Thr1982=) c.5955C= (p.Thr1985=) c.5937C= (p.Thr1979=) n.8278C= n.7267C= | |
| 12 | g.49042249G>T | CA479712559 | KMT2D | c.740C>A c.5949C>A (p.Thr1983=) c.5958C>A (p.Thr1986=) c.61C>A c.5946C>A (p.Thr1982=) c.5955C>A (p.Thr1985=) c.5937C>A (p.Thr1979=) n.8278C>A n.7267C>A | |
| 12 | g.49042250G>A | CA384627391 | KMT2D | c.739C>T c.5948C>T (p.Thr1983Ile) c.5957C>T (p.Thr1986Ile) c.60C>T c.5945C>T (p.Thr1982Ile) c.5954C>T (p.Thr1985Ile) c.5936C>T (p.Thr1979Ile) n.8277C>T n.7266C>T | dbSNP |
| 12 | g.49042250G>C | CA384627393 | KMT2D | c.739C>G c.5948C>G (p.Thr1983Ser) c.5957C>G (p.Thr1986Ser) c.60C>G c.5945C>G (p.Thr1982Ser) c.5954C>G (p.Thr1985Ser) c.5936C>G (p.Thr1979Ser) n.8277C>G n.7266C>G | |
| 12 | g.49042250G>T | CA384627394 | KMT2D | c.739C>A c.5948C>A (p.Thr1983Asn) c.5957C>A (p.Thr1986Asn) c.60C>A c.5945C>A (p.Thr1982Asn) c.5954C>A (p.Thr1985Asn) c.5936C>A (p.Thr1979Asn) n.8277C>A n.7266C>A | |
| 12 | g.49042251T>A | CA384627397 | KMT2D | c.738A>T c.5947A>T (p.Thr1983Ser) c.5956A>T (p.Thr1986Ser) c.59A>T c.5944A>T (p.Thr1982Ser) c.5953A>T (p.Thr1985Ser) c.5935A>T (p.Thr1979Ser) n.8276A>T n.7265A>T | dbSNP |
| 12 | g.49042251T>C | CA384627400 | KMT2D | c.738A>G c.5947A>G (p.Thr1983Ala) c.5956A>G (p.Thr1986Ala) c.59A>G c.5944A>G (p.Thr1982Ala) c.5953A>G (p.Thr1985Ala) c.5935A>G (p.Thr1979Ala) n.8276A>G n.7265A>G | |
| 12 | g.49042251T>G | CA384627403 | KMT2D | c.738A>C c.5947A>C (p.Thr1983Pro) c.5956A>C (p.Thr1986Pro) c.59A>C c.5944A>C (p.Thr1982Pro) c.5953A>C (p.Thr1985Pro) c.5935A>C (p.Thr1979Pro) n.8276A>C n.7265A>C | dbSNP |
| 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 |