Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35732538C>A | CA405425019 | KMT2B | n.295C>A c.5923C>A (p.Leu1975Met) c.3530C>A (n.3530C>A) c.1207C>A (p.Leu403Met) n.1142C>A c.1210C>A (p.Leu404Met) c.5531C>A c.5989C>A (p.Leu1997Met) c.704+209C>A (n.704+209C>A) c.3311C>A c.5713C>A (p.Leu1905Met) c.5425C>A (p.Leu1809Met) c.2953C>A (p.Leu985Met) | |
19 | g.35732538C>G | CA405425022 | KMT2B | n.295C>G c.5923C>G (p.Leu1975Val) c.3530C>G (n.3530C>G) c.1207C>G (p.Leu403Val) n.1142C>G c.1210C>G (p.Leu404Val) c.5531C>G c.5989C>G (p.Leu1997Val) c.704+209C>G (n.704+209C>G) c.3311C>G c.5713C>G (p.Leu1905Val) c.5425C>G (p.Leu1809Val) c.2953C>G (p.Leu985Val) | gnomAD v4 |
19 | g.35732538C>T | CA507308168 | KMT2B | n.295C>T c.5923C>T (p.Leu1975=) c.3530C>T (n.3530C>T) c.1207C>T (p.Leu403=) n.1142C>T c.1210C>T (p.Leu404=) c.5531C>T c.5989C>T (p.Leu1997=) c.704+209C>T (n.704+209C>T) c.3311C>T c.5713C>T (p.Leu1905=) c.5425C>T (p.Leu1809=) c.2953C>T (p.Leu985=) | |
19 | g.35732539T>A | CA405425027 | KMT2B | n.296T>A c.5924T>A (p.Leu1975Gln) c.3531T>A (n.3531T>A) c.1208T>A (p.Leu403Gln) n.1143T>A c.1211T>A (p.Leu404Gln) c.5532T>A c.5990T>A (p.Leu1997Gln) c.704+210T>A (n.704+210T>A) c.3312T>A c.5714T>A (p.Leu1905Gln) c.5426T>A (p.Leu1809Gln) c.2954T>A (p.Leu985Gln) | |
19 | g.35732539T>C | CA405425030 | KMT2B | n.296T>C c.5924T>C (p.Leu1975Pro) c.3531T>C (n.3531T>C) c.1208T>C (p.Leu403Pro) n.1143T>C c.1211T>C (p.Leu404Pro) c.5532T>C c.5990T>C (p.Leu1997Pro) c.704+210T>C (n.704+210T>C) c.3312T>C c.5714T>C (p.Leu1905Pro) c.5426T>C (p.Leu1809Pro) c.2954T>C (p.Leu985Pro) | |
19 | g.35732539T>G | CA405425034 | KMT2B | n.296T>G c.5924T>G (p.Leu1975Arg) c.3531T>G (n.3531T>G) c.1208T>G (p.Leu403Arg) n.1143T>G c.1211T>G (p.Leu404Arg) c.5532T>G c.5990T>G (p.Leu1997Arg) c.704+210T>G (n.704+210T>G) c.3312T>G c.5714T>G (p.Leu1905Arg) c.5426T>G (p.Leu1809Arg) c.2954T>G (p.Leu985Arg) | |
19 | g.35732540G>A | CA507308172 | KMT2B | n.297G>A c.5925G>A (p.Leu1975=) c.3532G>A (n.3532G>A) c.1209G>A (p.Leu403=) n.1144G>A c.1212G>A (p.Leu404=) c.5533G>A c.5991G>A (p.Leu1997=) c.704+211G>A (n.704+211G>A) c.3313G>A c.5715G>A (p.Leu1905=) c.5427G>A (p.Leu1809=) c.2955G>A (p.Leu985=) | |
19 | g.35732540G>C | CA507308174 | KMT2B | n.297G>C c.5925G>C (p.Leu1975=) c.3532G>C (n.3532G>C) c.1209G>C (p.Leu403=) n.1144G>C c.1212G>C (p.Leu404=) c.5533G>C c.5991G>C (p.Leu1997=) c.704+211G>C (n.704+211G>C) c.3313G>C c.5715G>C (p.Leu1905=) c.5427G>C (p.Leu1809=) c.2955G>C (p.Leu985=) | gnomAD v4 |
19 | g.35732540G>T | CA507308173 | KMT2B | n.297G>T c.5925G>T (p.Leu1975=) c.3532G>T (n.3532G>T) c.1209G>T (p.Leu403=) n.1144G>T c.1212G>T (p.Leu404=) c.5533G>T c.5991G>T (p.Leu1997=) c.704+211G>T (n.704+211G>T) c.3313G>T c.5715G>T (p.Leu1905=) c.5427G>T (p.Leu1809=) c.2955G>T (p.Leu985=) | gnomAD v4 |
19 | g.35732541C>A | CA405425037 | KMT2B | n.298C>A c.5926C>A (p.Leu1976Met) c.3533C>A (n.3533C>A) c.1210C>A (p.Leu404Met) n.1145C>A c.1213C>A (p.Leu405Met) c.5534C>A c.5992C>A (p.Leu1998Met) c.704+212C>A (n.704+212C>A) c.3314C>A c.5716C>A (p.Leu1906Met) c.5428C>A (p.Leu1810Met) c.2956C>A (p.Leu986Met) | |
19 | g.35732541C>G | CA405425038 | KMT2B | n.298C>G c.5926C>G (p.Leu1976Val) c.3533C>G (n.3533C>G) c.1210C>G (p.Leu404Val) n.1145C>G c.1213C>G (p.Leu405Val) c.5534C>G c.5992C>G (p.Leu1998Val) c.704+212C>G (n.704+212C>G) c.3314C>G c.5716C>G (p.Leu1906Val) c.5428C>G (p.Leu1810Val) c.2956C>G (p.Leu986Val) | |
19 | g.35732541C>T | CA507308175 | KMT2B | n.298C>T c.5926C>T (p.Leu1976=) c.3533C>T (n.3533C>T) c.1210C>T (p.Leu404=) n.1145C>T c.1213C>T (p.Leu405=) c.5534C>T c.5992C>T (p.Leu1998=) c.704+212C>T (n.704+212C>T) c.3314C>T c.5716C>T (p.Leu1906=) c.5428C>T (p.Leu1810=) c.2956C>T (p.Leu986=) | gnomAD v4 |
19 | g.35732542T>A | CA405425042 | KMT2B | n.299T>A c.5927T>A (p.Leu1976Gln) c.3534T>A (n.3534T>A) c.1211T>A (p.Leu404Gln) n.1146T>A c.1214T>A (p.Leu405Gln) c.5535T>A c.5993T>A (p.Leu1998Gln) c.704+213T>A (n.704+213T>A) c.3315T>A c.5717T>A (p.Leu1906Gln) c.5429T>A (p.Leu1810Gln) c.2957T>A (p.Leu986Gln) | |
19 | g.35732542T>C | CA405425044 | KMT2B | n.299T>C c.5927T>C (p.Leu1976Pro) c.3534T>C (n.3534T>C) c.1211T>C (p.Leu404Pro) n.1146T>C c.1214T>C (p.Leu405Pro) c.5535T>C c.5993T>C (p.Leu1998Pro) c.704+213T>C (n.704+213T>C) c.3315T>C c.5717T>C (p.Leu1906Pro) c.5429T>C (p.Leu1810Pro) c.2957T>C (p.Leu986Pro) | gnomAD v4 |
19 | g.35732542T>G | CA405425046 | KMT2B | n.299T>G c.5927T>G (p.Leu1976Arg) c.3534T>G (n.3534T>G) c.1211T>G (p.Leu404Arg) n.1146T>G c.1214T>G (p.Leu405Arg) c.5535T>G c.5993T>G (p.Leu1998Arg) c.704+213T>G (n.704+213T>G) c.3315T>G c.5717T>G (p.Leu1906Arg) c.5429T>G (p.Leu1810Arg) c.2957T>G (p.Leu986Arg) | |
19 | g.35732543G>A | CA507308176 | KMT2B | n.300G>A c.5928G>A (p.Leu1976=) c.3535G>A (n.3535G>A) c.1212G>A (p.Leu404=) n.1147G>A c.1215G>A (p.Leu405=) c.5536G>A c.5994G>A (p.Leu1998=) c.704+214G>A (n.704+214G>A) c.3316G>A c.5718G>A (p.Leu1906=) c.5430G>A (p.Leu1810=) c.2958G>A (p.Leu986=) | |
19 | g.35732543G>C | CA507308177 | KMT2B | n.300G>C c.5928G>C (p.Leu1976=) c.3535G>C (n.3535G>C) c.1212G>C (p.Leu404=) n.1147G>C c.1215G>C (p.Leu405=) c.5536G>C c.5994G>C (p.Leu1998=) c.704+214G>C (n.704+214G>C) c.3316G>C c.5718G>C (p.Leu1906=) c.5430G>C (p.Leu1810=) c.2958G>C (p.Leu986=) | |
19 | g.35732543G>T | CA507308178 | KMT2B | n.300G>T c.5928G>T (p.Leu1976=) c.3535G>T (n.3535G>T) c.1212G>T (p.Leu404=) n.1147G>T c.1215G>T (p.Leu405=) c.5536G>T c.5994G>T (p.Leu1998=) c.704+214G>T (n.704+214G>T) c.3316G>T c.5718G>T (p.Leu1906=) c.5430G>T (p.Leu1810=) c.2958G>T (p.Leu986=) | |
19 | g.35732544G>A | CA405425050 | KMT2B | n.301G>A c.5929G>A (p.Gly1977Arg) c.3536G>A (n.3536G>A) c.1213G>A (p.Gly405Arg) n.1148G>A c.1216G>A (p.Gly406Arg) c.5537G>A c.5995G>A (p.Gly1999Arg) c.704+215G>A (n.704+215G>A) c.3317G>A c.5719G>A (p.Gly1907Arg) c.5431G>A (p.Gly1811Arg) c.2959G>A (p.Gly987Arg) | |
19 | g.35732544G>C | CA9385578 | KMT2B | n.301G>C c.5929G>C (p.Gly1977Arg) c.3536G>C (n.3536G>C) c.1213G>C (p.Gly405Arg) n.1148G>C c.1216G>C (p.Gly406Arg) c.5537G>C c.5995G>C (p.Gly1999Arg) c.704+215G>C (n.704+215G>C) c.3317G>C c.5719G>C (p.Gly1907Arg) c.5431G>C (p.Gly1811Arg) c.2959G>C (p.Gly987Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732544G= | CA2333794362 | KMT2B | n.301G= c.5929G= (p.Gly1977=) c.3536G= (n.3536G=) c.1213G= (p.Gly405=) n.1148G= c.1216G= (p.Gly406=) c.5537G= c.5995G= (p.Gly1999=) c.704+215G= (n.704+215G=) c.3317G= c.5719G= (p.Gly1907=) c.5431G= (p.Gly1811=) c.2959G= (p.Gly987=) | |
19 | g.35732544G>T | CA405425054 | KMT2B | n.301G>T c.5929G>T (p.Gly1977Trp) c.3536G>T (n.3536G>T) c.1213G>T (p.Gly405Trp) n.1148G>T c.1216G>T (p.Gly406Trp) c.5537G>T c.5995G>T (p.Gly1999Trp) c.704+215G>T (n.704+215G>T) c.3317G>T c.5719G>T (p.Gly1907Trp) c.5431G>T (p.Gly1811Trp) c.2959G>T (p.Gly987Trp) | dbSNP |
19 | g.35732545G>A | CA405425056 | KMT2B | n.302G>A c.5930G>A (p.Gly1977Glu) c.3537G>A (n.3537G>A) c.1214G>A (p.Gly405Glu) n.1149G>A c.1217G>A (p.Gly406Glu) c.5538G>A c.5996G>A (p.Gly1999Glu) c.704+216G>A (n.704+216G>A) c.3318G>A c.5720G>A (p.Gly1907Glu) c.5432G>A (p.Gly1811Glu) c.2960G>A (p.Gly987Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732545G>C | CA405425059 | KMT2B | n.302G>C c.5930G>C (p.Gly1977Ala) c.3537G>C (n.3537G>C) c.1214G>C (p.Gly405Ala) n.1149G>C c.1217G>C (p.Gly406Ala) c.5538G>C c.5996G>C (p.Gly1999Ala) c.704+216G>C (n.704+216G>C) c.3318G>C c.5720G>C (p.Gly1907Ala) c.5432G>C (p.Gly1811Ala) c.2960G>C (p.Gly987Ala) | |
19 | g.35732545G= | CA2333794363 | KMT2B | n.302G= c.5930G= (p.Gly1977=) c.3537G= (n.3537G=) c.1214G= (p.Gly405=) n.1149G= c.1217G= (p.Gly406=) c.5538G= c.5996G= (p.Gly1999=) c.704+216G= (n.704+216G=) c.3318G= c.5720G= (p.Gly1907=) c.5432G= (p.Gly1811=) c.2960G= (p.Gly987=) | |
19 | g.35732545G>T | CA405425064 | KMT2B | n.302G>T c.5930G>T (p.Gly1977Val) c.3537G>T (n.3537G>T) c.1214G>T (p.Gly405Val) n.1149G>T c.1217G>T (p.Gly406Val) c.5538G>T c.5996G>T (p.Gly1999Val) c.704+216G>T (n.704+216G>T) c.3318G>T c.5720G>T (p.Gly1907Val) c.5432G>T (p.Gly1811Val) c.2960G>T (p.Gly987Val) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35732546G>A | CA507308182 | KMT2B | n.303G>A c.5931G>A (p.Gly1977=) c.3538G>A (n.3538G>A) c.1215G>A (p.Gly405=) n.1150G>A c.1218G>A (p.Gly406=) c.5539G>A c.5997G>A (p.Gly1999=) c.704+217G>A (n.704+217G>A) c.3319G>A c.5721G>A (p.Gly1907=) c.5433G>A (p.Gly1811=) c.2961G>A (p.Gly987=) | |
19 | g.35732546G>C | CA507308183 | KMT2B | n.303G>C c.5931G>C (p.Gly1977=) c.3538G>C (n.3538G>C) c.1215G>C (p.Gly405=) n.1150G>C c.1218G>C (p.Gly406=) c.5539G>C c.5997G>C (p.Gly1999=) c.704+217G>C (n.704+217G>C) c.3319G>C c.5721G>C (p.Gly1907=) c.5433G>C (p.Gly1811=) c.2961G>C (p.Gly987=) | |
19 | g.35732546G= | CA2333794364 | KMT2B | n.303G= c.5931G= (p.Gly1977=) c.3538G= (n.3538G=) c.1215G= (p.Gly405=) n.1150G= c.1218G= (p.Gly406=) c.5539G= c.5997G= (p.Gly1999=) c.704+217G= (n.704+217G=) c.3319G= c.5721G= (p.Gly1907=) c.5433G= (p.Gly1811=) c.2961G= (p.Gly987=) | |
19 | g.35732546G>T | CA307796032 | KMT2B | n.303G>T c.5931G>T (p.Gly1977=) c.3538G>T (n.3538G>T) c.1215G>T (p.Gly405=) n.1150G>T c.1218G>T (p.Gly406=) c.5539G>T c.5997G>T (p.Gly1999=) c.704+217G>T (n.704+217G>T) c.3319G>T c.5721G>T (p.Gly1907=) c.5433G>T (p.Gly1811=) c.2961G>T (p.Gly987=) | dbSNP |
19 | g.35732547A>C | CA405425065 | KMT2B | n.304A>C c.5932A>C (p.Thr1978Pro) c.3539A>C (n.3539A>C) c.1216A>C (p.Thr406Pro) n.1151A>C c.1219A>C (p.Thr407Pro) c.5540A>C c.5998A>C (p.Thr2000Pro) c.704+218A>C (n.704+218A>C) c.3320A>C c.5722A>C (p.Thr1908Pro) c.5434A>C (p.Thr1812Pro) c.2962A>C (p.Thr988Pro) | gnomAD v4 |
19 | g.35732547A>G | CA405425067 | KMT2B | n.304A>G c.5932A>G (p.Thr1978Ala) c.3539A>G (n.3539A>G) c.1216A>G (p.Thr406Ala) n.1151A>G c.1219A>G (p.Thr407Ala) c.5540A>G c.5998A>G (p.Thr2000Ala) c.704+218A>G (n.704+218A>G) c.3320A>G c.5722A>G (p.Thr1908Ala) c.5434A>G (p.Thr1812Ala) c.2962A>G (p.Thr988Ala) | |
19 | g.35732547A>T | CA405425070 | KMT2B | n.304A>T c.5932A>T (p.Thr1978Ser) c.3539A>T (n.3539A>T) c.1216A>T (p.Thr406Ser) n.1151A>T c.1219A>T (p.Thr407Ser) c.5540A>T c.5998A>T (p.Thr2000Ser) c.704+218A>T (n.704+218A>T) c.3320A>T c.5722A>T (p.Thr1908Ser) c.5434A>T (p.Thr1812Ser) c.2962A>T (p.Thr988Ser) | |
19 | g.35732548C>A | CA405425078 | KMT2B | n.305C>A c.5933C>A (p.Thr1978Asn) c.3540C>A (n.3540C>A) c.1217C>A (p.Thr406Asn) n.1152C>A c.1220C>A (p.Thr407Asn) c.5541C>A c.5999C>A (p.Thr2000Asn) c.704+219C>A (n.704+219C>A) c.3321C>A c.5723C>A (p.Thr1908Asn) c.5435C>A (p.Thr1812Asn) c.2963C>A (p.Thr988Asn) | |
19 | g.35732548C= | CA2333794365 | KMT2B | n.305C= c.5933C= (p.Thr1978=) c.3540C= (n.3540C=) c.1217C= (p.Thr406=) n.1152C= c.1220C= (p.Thr407=) c.5541C= c.5999C= (p.Thr2000=) c.704+219C= (n.704+219C=) c.3321C= c.5723C= (p.Thr1908=) c.5435C= (p.Thr1812=) c.2963C= (p.Thr988=) | |
19 | g.35732548C>G | CA405425076 | KMT2B | n.305C>G c.5933C>G (p.Thr1978Ser) c.3540C>G (n.3540C>G) c.1217C>G (p.Thr406Ser) n.1152C>G c.1220C>G (p.Thr407Ser) c.5541C>G c.5999C>G (p.Thr2000Ser) c.704+219C>G (n.704+219C>G) c.3321C>G c.5723C>G (p.Thr1908Ser) c.5435C>G (p.Thr1812Ser) c.2963C>G (p.Thr988Ser) | |
19 | g.35732548C>T | CA307796039 | KMT2B | n.305C>T c.5933C>T (p.Thr1978Ile) c.3540C>T (n.3540C>T) c.1217C>T (p.Thr406Ile) n.1152C>T c.1220C>T (p.Thr407Ile) c.5541C>T c.5999C>T (p.Thr2000Ile) c.704+219C>T (n.704+219C>T) c.3321C>T c.5723C>T (p.Thr1908Ile) c.5435C>T (p.Thr1812Ile) c.2963C>T (p.Thr988Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732549T>A | CA507308187 | KMT2B | n.306T>A c.5934T>A (p.Thr1978=) c.3541T>A (n.3541T>A) c.1218T>A (p.Thr406=) n.1153T>A c.1221T>A (p.Thr407=) c.5542T>A c.6000T>A (p.Thr2000=) c.704+220T>A (n.704+220T>A) c.3322T>A c.5724T>A (p.Thr1908=) c.5436T>A (p.Thr1812=) c.2964T>A (p.Thr988=) | |
19 | g.35732549T>C | CA507308188 | KMT2B | n.306T>C c.5934T>C (p.Thr1978=) c.3541T>C (n.3541T>C) c.1218T>C (p.Thr406=) n.1153T>C c.1221T>C (p.Thr407=) c.5542T>C c.6000T>C (p.Thr2000=) c.704+220T>C (n.704+220T>C) c.3322T>C c.5724T>C (p.Thr1908=) c.5436T>C (p.Thr1812=) c.2964T>C (p.Thr988=) | |
19 | g.35732549T>G | CA507308189 | KMT2B | n.306T>G c.5934T>G (p.Thr1978=) c.3541T>G (n.3541T>G) c.1218T>G (p.Thr406=) n.1153T>G c.1221T>G (p.Thr407=) c.5542T>G c.6000T>G (p.Thr2000=) c.704+220T>G (n.704+220T>G) c.3322T>G c.5724T>G (p.Thr1908=) c.5436T>G (p.Thr1812=) c.2964T>G (p.Thr988=) | |
19 | g.35732550G>A | CA405425087 | KMT2B | n.307G>A c.5935G>A (p.Glu1979Lys) c.3542G>A (n.3542G>A) c.1219G>A (p.Glu407Lys) n.1154G>A c.1222G>A (p.Glu408Lys) c.5543G>A c.6001G>A (p.Glu2001Lys) c.704+221G>A (n.704+221G>A) c.3323G>A c.5725G>A (p.Glu1909Lys) c.5437G>A (p.Glu1813Lys) c.2965G>A (p.Glu989Lys) | |
19 | g.35732550G>C | CA405425082 | KMT2B | n.307G>C c.5935G>C (p.Glu1979Gln) c.3542G>C (n.3542G>C) c.1219G>C (p.Glu407Gln) n.1154G>C c.1222G>C (p.Glu408Gln) c.5543G>C c.6001G>C (p.Glu2001Gln) c.704+221G>C (n.704+221G>C) c.3323G>C c.5725G>C (p.Glu1909Gln) c.5437G>C (p.Glu1813Gln) c.2965G>C (p.Glu989Gln) | |
19 | g.35732550G>T | CA405425089 | KMT2B | n.307G>T c.5935G>T (p.Glu1979Ter) c.3542G>T (n.3542G>T) c.1219G>T (p.Glu407Ter) n.1154G>T c.1222G>T (p.Glu408Ter) c.5543G>T c.6001G>T (p.Glu2001Ter) c.704+221G>T (n.704+221G>T) c.3323G>T c.5725G>T (p.Glu1909Ter) c.5437G>T (p.Glu1813Ter) c.2965G>T (p.Glu989Ter) | |
19 | g.35732551A>C | CA405425094 | KMT2B | n.308A>C c.5936A>C (p.Glu1979Ala) c.3543A>C (n.3543A>C) c.1220A>C (p.Glu407Ala) n.1155A>C c.1223A>C (p.Glu408Ala) c.5544A>C c.6002A>C (p.Glu2001Ala) c.704+222A>C (n.704+222A>C) c.3324A>C c.5726A>C (p.Glu1909Ala) c.5438A>C (p.Glu1813Ala) c.2966A>C (p.Glu989Ala) | |
19 | g.35732551A>G | CA405425099 | KMT2B | n.308A>G c.5936A>G (p.Glu1979Gly) c.3543A>G (n.3543A>G) c.1220A>G (p.Glu407Gly) n.1155A>G c.1223A>G (p.Glu408Gly) c.5544A>G c.6002A>G (p.Glu2001Gly) c.704+222A>G (n.704+222A>G) c.3324A>G c.5726A>G (p.Glu1909Gly) c.5438A>G (p.Glu1813Gly) c.2966A>G (p.Glu989Gly) | |
19 | g.35732551A>T | CA405425102 | KMT2B | n.308A>T c.5936A>T (p.Glu1979Val) c.3543A>T (n.3543A>T) c.1220A>T (p.Glu407Val) n.1155A>T c.1223A>T (p.Glu408Val) c.5544A>T c.6002A>T (p.Glu2001Val) c.704+222A>T (n.704+222A>T) c.3324A>T c.5726A>T (p.Glu1909Val) c.5438A>T (p.Glu1813Val) c.2966A>T (p.Glu989Val) | |
19 | g.35732552G>A | CA307796054 | KMT2B | n.309G>A c.5937G>A (p.Glu1979=) c.3544G>A (n.3544G>A) c.1221G>A (p.Glu407=) n.1156G>A c.1224G>A (p.Glu408=) c.5545G>A c.6003G>A (p.Glu2001=) c.704+223G>A (n.704+223G>A) c.3325G>A c.5727G>A (p.Glu1909=) c.5439G>A (p.Glu1813=) c.2967G>A (p.Glu989=) | dbSNP gnomAD v4 |
19 | g.35732552G>C | CA405425105 | KMT2B | n.309G>C c.5937G>C (p.Glu1979Asp) c.3544G>C (n.3544G>C) c.1221G>C (p.Glu407Asp) n.1156G>C c.1224G>C (p.Glu408Asp) c.5545G>C c.6003G>C (p.Glu2001Asp) c.704+223G>C (n.704+223G>C) c.3325G>C c.5727G>C (p.Glu1909Asp) c.5439G>C (p.Glu1813Asp) c.2967G>C (p.Glu989Asp) | |
19 | g.35732552G= | CA2333794366 | KMT2B | n.309G= c.5937G= (p.Glu1979=) c.3544G= (n.3544G=) c.1221G= (p.Glu407=) n.1156G= c.1224G= (p.Glu408=) c.5545G= c.6003G= (p.Glu2001=) c.704+223G= (n.704+223G=) c.3325G= c.5727G= (p.Glu1909=) c.5439G= (p.Glu1813=) c.2967G= (p.Glu989=) | |
19 | g.35732552G>T | CA405425109 | KMT2B | n.309G>T c.5937G>T (p.Glu1979Asp) c.3544G>T (n.3544G>T) c.1221G>T (p.Glu407Asp) n.1156G>T c.1224G>T (p.Glu408Asp) c.5545G>T c.6003G>T (p.Glu2001Asp) c.704+223G>T (n.704+223G>T) c.3325G>T c.5727G>T (p.Glu1909Asp) c.5439G>T (p.Glu1813Asp) c.2967G>T (p.Glu989Asp) | |
19 | g.35732553C>A | CA405425117 | KMT2B | n.310C>A c.5938C>A (p.Pro1980Thr) c.3545C>A (n.3545C>A) c.1222C>A (p.Pro408Thr) n.1157C>A c.1225C>A (p.Pro409Thr) c.5546C>A c.6004C>A (p.Pro2002Thr) c.704+224C>A (n.704+224C>A) c.3326C>A c.5728C>A (p.Pro1910Thr) c.5440C>A (p.Pro1814Thr) c.2968C>A (p.Pro990Thr) | gnomAD v4 |
19 | g.35732553C= | CA2333794367 | KMT2B | n.310C= c.5938C= (p.Pro1980=) c.3545C= (n.3545C=) c.1222C= (p.Pro408=) n.1157C= c.1225C= (p.Pro409=) c.5546C= c.6004C= (p.Pro2002=) c.704+224C= (n.704+224C=) c.3326C= c.5728C= (p.Pro1910=) c.5440C= (p.Pro1814=) c.2968C= (p.Pro990=) | |
19 | g.35732553C>G | CA405425114 | KMT2B | n.310C>G c.5938C>G (p.Pro1980Ala) c.3545C>G (n.3545C>G) c.1222C>G (p.Pro408Ala) n.1157C>G c.1225C>G (p.Pro409Ala) c.5546C>G c.6004C>G (p.Pro2002Ala) c.704+224C>G (n.704+224C>G) c.3326C>G c.5728C>G (p.Pro1910Ala) c.5440C>G (p.Pro1814Ala) c.2968C>G (p.Pro990Ala) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732553C>T | CA405425113 | KMT2B | n.310C>T c.5938C>T (p.Pro1980Ser) c.3545C>T (n.3545C>T) c.1222C>T (p.Pro408Ser) n.1157C>T c.1225C>T (p.Pro409Ser) c.5546C>T c.6004C>T (p.Pro2002Ser) c.704+224C>T (n.704+224C>T) c.3326C>T c.5728C>T (p.Pro1910Ser) c.5440C>T (p.Pro1814Ser) c.2968C>T (p.Pro990Ser) | COSMIC |
19 | g.35732554C>A | CA405425121 | KMT2B | n.311C>A c.5939C>A (p.Pro1980His) c.3546C>A (n.3546C>A) c.1223C>A (p.Pro408His) n.1158C>A c.1226C>A (p.Pro409His) c.5547C>A c.6005C>A (p.Pro2002His) c.704+225C>A (n.704+225C>A) c.3327C>A c.5729C>A (p.Pro1910His) c.5441C>A (p.Pro1814His) c.2969C>A (p.Pro990His) | |
19 | g.35732554C= | CA2333794368 | KMT2B | n.311C= c.5939C= (p.Pro1980=) c.3546C= (n.3546C=) c.1223C= (p.Pro408=) n.1158C= c.1226C= (p.Pro409=) c.5547C= c.6005C= (p.Pro2002=) c.704+225C= (n.704+225C=) c.3327C= c.5729C= (p.Pro1910=) c.5441C= (p.Pro1814=) c.2969C= (p.Pro990=) | |
19 | g.35732554C>G | CA405425124 | KMT2B | n.311C>G c.5939C>G (p.Pro1980Arg) c.3546C>G (n.3546C>G) c.1223C>G (p.Pro408Arg) n.1158C>G c.1226C>G (p.Pro409Arg) c.5547C>G c.6005C>G (p.Pro2002Arg) c.704+225C>G (n.704+225C>G) c.3327C>G c.5729C>G (p.Pro1910Arg) c.5441C>G (p.Pro1814Arg) c.2969C>G (p.Pro990Arg) | |
19 | g.35732554C>T | CA9385579 | KMT2B | n.311C>T c.5939C>T (p.Pro1980Leu) c.3546C>T (n.3546C>T) c.1223C>T (p.Pro408Leu) n.1158C>T c.1226C>T (p.Pro409Leu) c.5547C>T c.6005C>T (p.Pro2002Leu) c.704+225C>T (n.704+225C>T) c.3327C>T c.5729C>T (p.Pro1910Leu) c.5441C>T (p.Pro1814Leu) c.2969C>T (p.Pro990Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35732555C>A | CA507308197 | KMT2B | n.312C>A c.5940C>A (p.Pro1980=) c.3547C>A (n.3547C>A) c.1224C>A (p.Pro408=) n.1159C>A c.1227C>A (p.Pro409=) c.5548C>A c.6006C>A (p.Pro2002=) c.704+226C>A (n.704+226C>A) c.3328C>A c.5730C>A (p.Pro1910=) c.5442C>A (p.Pro1814=) c.2970C>A (p.Pro990=) | |
19 | g.35732555C= | CA2333794369 | KMT2B | n.312C= c.5940C= (p.Pro1980=) c.3547C= (n.3547C=) c.1224C= (p.Pro408=) n.1159C= c.1227C= (p.Pro409=) c.5548C= c.6006C= (p.Pro2002=) c.704+226C= (n.704+226C=) c.3328C= c.5730C= (p.Pro1910=) c.5442C= (p.Pro1814=) c.2970C= (p.Pro990=) | |
19 | g.35732555C>G | CA507308198 | KMT2B | n.312C>G c.5940C>G (p.Pro1980=) c.3547C>G (n.3547C>G) c.1224C>G (p.Pro408=) n.1159C>G c.1227C>G (p.Pro409=) c.5548C>G c.6006C>G (p.Pro2002=) c.704+226C>G (n.704+226C>G) c.3328C>G c.5730C>G (p.Pro1910=) c.5442C>G (p.Pro1814=) c.2970C>G (p.Pro990=) | |
19 | g.35732555C>T | CA507308199 | KMT2B | n.312C>T c.5940C>T (p.Pro1980=) c.3547C>T (n.3547C>T) c.1224C>T (p.Pro408=) n.1159C>T c.1227C>T (p.Pro409=) c.5548C>T c.6006C>T (p.Pro2002=) c.704+226C>T (n.704+226C>T) c.3328C>T c.5730C>T (p.Pro1910=) c.5442C>T (p.Pro1814=) c.2970C>T (p.Pro990=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.35732556T>A | CA405425134 | KMT2B | n.313T>A c.5941T>A (p.Phe1981Ile) c.3548T>A (n.3548T>A) c.1225T>A (p.Phe409Ile) n.1160T>A c.1228T>A (p.Phe410Ile) c.5549T>A c.6007T>A (p.Phe2003Ile) c.704+227T>A (n.704+227T>A) c.3329T>A c.5731T>A (p.Phe1911Ile) c.5443T>A (p.Phe1815Ile) c.2971T>A (p.Phe991Ile) | gnomAD v4 |
19 | g.35732556T>C | CA405425137 | KMT2B | n.313T>C c.5941T>C (p.Phe1981Leu) c.3548T>C (n.3548T>C) c.1225T>C (p.Phe409Leu) n.1160T>C c.1228T>C (p.Phe410Leu) c.5549T>C c.6007T>C (p.Phe2003Leu) c.704+227T>C (n.704+227T>C) c.3329T>C c.5731T>C (p.Phe1911Leu) c.5443T>C (p.Phe1815Leu) c.2971T>C (p.Phe991Leu) | gnomAD v4 |
19 | g.35732556T>G | CA405425139 | KMT2B | n.313T>G c.5941T>G (p.Phe1981Val) c.3548T>G (n.3548T>G) c.1225T>G (p.Phe409Val) n.1160T>G c.1228T>G (p.Phe410Val) c.5549T>G c.6007T>G (p.Phe2003Val) c.704+227T>G (n.704+227T>G) c.3329T>G c.5731T>G (p.Phe1911Val) c.5443T>G (p.Phe1815Val) c.2971T>G (p.Phe991Val) | |
19 | g.35732557T>A | CA405425144 | KMT2B | n.314T>A c.5942T>A (p.Phe1981Tyr) c.3549T>A (n.3549T>A) c.1226T>A (p.Phe409Tyr) n.1161T>A c.1229T>A (p.Phe410Tyr) c.5550T>A c.6008T>A (p.Phe2003Tyr) c.704+228T>A (n.704+228T>A) c.3330T>A c.5732T>A (p.Phe1911Tyr) c.5444T>A (p.Phe1815Tyr) c.2972T>A (p.Phe991Tyr) | |
19 | g.35732557T>C | CA405425149 | KMT2B | n.314T>C c.5942T>C (p.Phe1981Ser) c.3549T>C (n.3549T>C) c.1226T>C (p.Phe409Ser) n.1161T>C c.1229T>C (p.Phe410Ser) c.5550T>C c.6008T>C (p.Phe2003Ser) c.704+228T>C (n.704+228T>C) c.3330T>C c.5732T>C (p.Phe1911Ser) c.5444T>C (p.Phe1815Ser) c.2972T>C (p.Phe991Ser) | |
19 | g.35732557T>G | CA405425146 | KMT2B | n.314T>G c.5942T>G (p.Phe1981Cys) c.3549T>G (n.3549T>G) c.1226T>G (p.Phe409Cys) n.1161T>G c.1229T>G (p.Phe410Cys) c.5550T>G c.6008T>G (p.Phe2003Cys) c.704+228T>G (n.704+228T>G) c.3330T>G c.5732T>G (p.Phe1911Cys) c.5444T>G (p.Phe1815Cys) c.2972T>G (p.Phe991Cys) | |
19 | g.35732558C>A | CA405425152 | KMT2B | n.315C>A c.5943C>A (p.Phe1981Leu) c.3550C>A (n.3550C>A) c.1227C>A (p.Phe409Leu) n.1162C>A c.1230C>A (p.Phe410Leu) c.5551C>A c.6009C>A (p.Phe2003Leu) c.704+229C>A (n.704+229C>A) c.3331C>A c.5733C>A (p.Phe1911Leu) c.5445C>A (p.Phe1815Leu) c.2973C>A (p.Phe991Leu) | |
19 | g.35732558C= | CA2333794370 | KMT2B | n.315C= c.5943C= (p.Phe1981=) c.3550C= (n.3550C=) c.1227C= (p.Phe409=) n.1162C= c.1230C= (p.Phe410=) c.5551C= c.6009C= (p.Phe2003=) c.704+229C= (n.704+229C=) c.3331C= c.5733C= (p.Phe1911=) c.5445C= (p.Phe1815=) c.2973C= (p.Phe991=) | |
19 | g.35732558C>G | CA405425154 | KMT2B | n.315C>G c.5943C>G (p.Phe1981Leu) c.3550C>G (n.3550C>G) c.1227C>G (p.Phe409Leu) n.1162C>G c.1230C>G (p.Phe410Leu) c.5551C>G c.6009C>G (p.Phe2003Leu) c.704+229C>G (n.704+229C>G) c.3331C>G c.5733C>G (p.Phe1911Leu) c.5445C>G (p.Phe1815Leu) c.2973C>G (p.Phe991Leu) | gnomAD v4 |
19 | g.35732558C>T | CA507308202 | KMT2B | n.315C>T c.5943C>T (p.Phe1981=) c.3550C>T (n.3550C>T) c.1227C>T (p.Phe409=) n.1162C>T c.1230C>T (p.Phe410=) c.5551C>T c.6009C>T (p.Phe2003=) c.704+229C>T (n.704+229C>T) c.3331C>T c.5733C>T (p.Phe1911=) c.5445C>T (p.Phe1815=) c.2973C>T (p.Phe991=) | dbSNP |
19 | g.35732559C>A | CA405425158 | KMT2B | n.316C>A c.5944C>A (p.Gln1982Lys) c.3551C>A (n.3551C>A) c.1228C>A (p.Gln410Lys) n.1163C>A c.1231C>A (p.Gln411Lys) c.5552C>A c.6010C>A (p.Gln2004Lys) c.704+230C>A (n.704+230C>A) c.3332C>A c.5734C>A (p.Gln1912Lys) c.5446C>A (p.Gln1816Lys) c.2974C>A (p.Gln992Lys) | |
19 | g.35732559C>G | CA405425161 | KMT2B | n.316C>G c.5944C>G (p.Gln1982Glu) c.3551C>G (n.3551C>G) c.1228C>G (p.Gln410Glu) n.1163C>G c.1231C>G (p.Gln411Glu) c.5552C>G c.6010C>G (p.Gln2004Glu) c.704+230C>G (n.704+230C>G) c.3332C>G c.5734C>G (p.Gln1912Glu) c.5446C>G (p.Gln1816Glu) c.2974C>G (p.Gln992Glu) | |
19 | g.35732559C>T | CA405425164 | KMT2B | n.316C>T c.5944C>T (p.Gln1982Ter) c.3551C>T (n.3551C>T) c.1228C>T (p.Gln410Ter) n.1163C>T c.1231C>T (p.Gln411Ter) c.5552C>T c.6010C>T (p.Gln2004Ter) c.704+230C>T (n.704+230C>T) c.3332C>T c.5734C>T (p.Gln1912Ter) c.5446C>T (p.Gln1816Ter) c.2974C>T (p.Gln992Ter) | |
19 | g.35732560A>C | CA405425169 | KMT2B | n.317A>C c.5945A>C (p.Gln1982Pro) c.3552A>C (n.3552A>C) c.1229A>C (p.Gln410Pro) n.1164A>C c.1232A>C (p.Gln411Pro) c.5553A>C c.6011A>C (p.Gln2004Pro) c.704+231A>C (n.704+231A>C) c.3333A>C c.5735A>C (p.Gln1912Pro) c.5447A>C (p.Gln1816Pro) c.2975A>C (p.Gln992Pro) | |
19 | g.35732560A>G | CA405425171 | KMT2B | n.317A>G c.5945A>G (p.Gln1982Arg) c.3552A>G (n.3552A>G) c.1229A>G (p.Gln410Arg) n.1164A>G c.1232A>G (p.Gln411Arg) c.5553A>G c.6011A>G (p.Gln2004Arg) c.704+231A>G (n.704+231A>G) c.3333A>G c.5735A>G (p.Gln1912Arg) c.5447A>G (p.Gln1816Arg) c.2975A>G (p.Gln992Arg) | gnomAD v4 |
19 | g.35732560A>T | CA405425175 | KMT2B | n.317A>T c.5945A>T (p.Gln1982Leu) c.3552A>T (n.3552A>T) c.1229A>T (p.Gln410Leu) n.1164A>T c.1232A>T (p.Gln411Leu) c.5553A>T c.6011A>T (p.Gln2004Leu) c.704+231A>T (n.704+231A>T) c.3333A>T c.5735A>T (p.Gln1912Leu) c.5447A>T (p.Gln1816Leu) c.2975A>T (p.Gln992Leu) | gnomAD v4 |
19 | g.35732561G>A | CA507308205 | KMT2B | n.318G>A c.5946G>A (p.Gln1982=) c.3553G>A (n.3553G>A) c.1230G>A (p.Gln410=) n.1165G>A c.1233G>A (p.Gln411=) c.5554G>A c.6012G>A (p.Gln2004=) c.704+232G>A (n.704+232G>A) c.3334G>A c.5736G>A (p.Gln1912=) c.5448G>A (p.Gln1816=) c.2976G>A (p.Gln992=) | |
19 | g.35732561G>C | CA405425176 | KMT2B | n.318G>C c.5946G>C (p.Gln1982His) c.3553G>C (n.3553G>C) c.1230G>C (p.Gln410His) n.1165G>C c.1233G>C (p.Gln411His) c.5554G>C c.6012G>C (p.Gln2004His) c.704+232G>C (n.704+232G>C) c.3334G>C c.5736G>C (p.Gln1912His) c.5448G>C (p.Gln1816His) c.2976G>C (p.Gln992His) | |
19 | g.35732561G>T | CA405425178 | KMT2B | n.318G>T c.5946G>T (p.Gln1982His) c.3553G>T (n.3553G>T) c.1230G>T (p.Gln410His) n.1165G>T c.1233G>T (p.Gln411His) c.5554G>T c.6012G>T (p.Gln2004His) c.704+232G>T (n.704+232G>T) c.3334G>T c.5736G>T (p.Gln1912His) c.5448G>T (p.Gln1816His) c.2976G>T (p.Gln992His) | |
19 | g.35732562G>A | CA405425186 | KMT2B | n.319G>A c.5947G>A (p.Glu1983Lys) c.3554G>A (n.3554G>A) c.1231G>A (p.Glu411Lys) n.1166G>A c.1234G>A (p.Glu412Lys) c.5555G>A c.6013G>A (p.Glu2005Lys) c.704+233G>A (n.704+233G>A) c.3335G>A c.5737G>A (p.Glu1913Lys) c.5449G>A (p.Glu1817Lys) c.2977G>A (p.Glu993Lys) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732562G>C | CA405425184 | KMT2B | n.319G>C c.5947G>C (p.Glu1983Gln) c.3554G>C (n.3554G>C) c.1231G>C (p.Glu411Gln) n.1166G>C c.1234G>C (p.Glu412Gln) c.5555G>C c.6013G>C (p.Glu2005Gln) c.704+233G>C (n.704+233G>C) c.3335G>C c.5737G>C (p.Glu1913Gln) c.5449G>C (p.Glu1817Gln) c.2977G>C (p.Glu993Gln) | gnomAD v4 |
19 | g.35732562G= | CA2333794371 | KMT2B | n.319G= c.5947G= (p.Glu1983=) c.3554G= (n.3554G=) c.1231G= (p.Glu411=) n.1166G= c.1234G= (p.Glu412=) c.5555G= c.6013G= (p.Glu2005=) c.704+233G= (n.704+233G=) c.3335G= c.5737G= (p.Glu1913=) c.5449G= (p.Glu1817=) c.2977G= (p.Glu993=) | |
19 | g.35732562G>T | CA405425182 | KMT2B | n.319G>T c.5947G>T (p.Glu1983Ter) c.3554G>T (n.3554G>T) c.1231G>T (p.Glu411Ter) n.1166G>T c.1234G>T (p.Glu412Ter) c.5555G>T c.6013G>T (p.Glu2005Ter) c.704+233G>T (n.704+233G>T) c.3335G>T c.5737G>T (p.Glu1913Ter) c.5449G>T (p.Glu1817Ter) c.2977G>T (p.Glu993Ter) | |
19 | g.35732563A>C | CA405425189 | KMT2B | n.320A>C c.5948A>C (p.Glu1983Ala) c.3555A>C (n.3555A>C) c.1232A>C (p.Glu411Ala) n.1167A>C c.1235A>C (p.Glu412Ala) c.5556A>C c.6014A>C (p.Glu2005Ala) c.704+234A>C (n.704+234A>C) c.3336A>C c.5738A>C (p.Glu1913Ala) c.5450A>C (p.Glu1817Ala) c.2978A>C (p.Glu993Ala) | |
19 | g.35732563A>G | CA405425193 | KMT2B | n.320A>G c.5948A>G (p.Glu1983Gly) c.3555A>G (n.3555A>G) c.1232A>G (p.Glu411Gly) n.1167A>G c.1235A>G (p.Glu412Gly) c.5556A>G c.6014A>G (p.Glu2005Gly) c.704+234A>G (n.704+234A>G) c.3336A>G c.5738A>G (p.Glu1913Gly) c.5450A>G (p.Glu1817Gly) c.2978A>G (p.Glu993Gly) | |
19 | g.35732563A>T | CA405425195 | KMT2B | n.320A>T c.5948A>T (p.Glu1983Val) c.3555A>T (n.3555A>T) c.1232A>T (p.Glu411Val) n.1167A>T c.1235A>T (p.Glu412Val) c.5556A>T c.6014A>T (p.Glu2005Val) c.704+234A>T (n.704+234A>T) c.3336A>T c.5738A>T (p.Glu1913Val) c.5450A>T (p.Glu1817Val) c.2978A>T (p.Glu993Val) | |
19 | g.35732564A>C | CA405425198 | KMT2B | n.321A>C c.5949A>C (p.Glu1983Asp) c.3556A>C (n.3556A>C) c.1233A>C (p.Glu411Asp) n.1168A>C c.1236A>C (p.Glu412Asp) c.5557A>C c.6015A>C (p.Glu2005Asp) c.704+235A>C (n.704+235A>C) c.3337A>C c.5739A>C (p.Glu1913Asp) c.5451A>C (p.Glu1817Asp) c.2979A>C (p.Glu993Asp) | |
19 | g.35732564A>G | CA507308209 | KMT2B | n.321A>G c.5949A>G (p.Glu1983=) c.3556A>G (n.3556A>G) c.1233A>G (p.Glu411=) n.1168A>G c.1236A>G (p.Glu412=) c.5557A>G c.6015A>G (p.Glu2005=) c.704+235A>G (n.704+235A>G) c.3337A>G c.5739A>G (p.Glu1913=) c.5451A>G (p.Glu1817=) c.2979A>G (p.Glu993=) | |
19 | g.35732564A>T | CA405425200 | KMT2B | n.321A>T c.5949A>T (p.Glu1983Asp) c.3556A>T (n.3556A>T) c.1233A>T (p.Glu411Asp) n.1168A>T c.1236A>T (p.Glu412Asp) c.5557A>T c.6015A>T (p.Glu2005Asp) c.704+235A>T (n.704+235A>T) c.3337A>T c.5739A>T (p.Glu1913Asp) c.5451A>T (p.Glu1817Asp) c.2979A>T (p.Glu993Asp) | |
19 | g.35732565G>A | CA405425210 | KMT2B | n.322G>A c.5950G>A (p.Glu1984Lys) c.3557G>A (n.3557G>A) c.1234G>A (p.Glu412Lys) n.1169G>A c.1237G>A (p.Glu413Lys) c.5558G>A c.6016G>A (p.Glu2006Lys) c.704+236G>A (n.704+236G>A) c.3338G>A c.5740G>A (p.Glu1914Lys) c.5452G>A (p.Glu1818Lys) c.2980G>A (p.Glu994Lys) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732565G>C | CA405425207 | KMT2B | n.322G>C c.5950G>C (p.Glu1984Gln) c.3557G>C (n.3557G>C) c.1234G>C (p.Glu412Gln) n.1169G>C c.1237G>C (p.Glu413Gln) c.5558G>C c.6016G>C (p.Glu2006Gln) c.704+236G>C (n.704+236G>C) c.3338G>C c.5740G>C (p.Glu1914Gln) c.5452G>C (p.Glu1818Gln) c.2980G>C (p.Glu994Gln) | gnomAD v4 |
19 | g.35732565G= | CA2333794372 | KMT2B | n.322G= c.5950G= (p.Glu1984=) c.3557G= (n.3557G=) c.1234G= (p.Glu412=) n.1169G= c.1237G= (p.Glu413=) c.5558G= c.6016G= (p.Glu2006=) c.704+236G= (n.704+236G=) c.3338G= c.5740G= (p.Glu1914=) c.5452G= (p.Glu1818=) c.2980G= (p.Glu994=) | |
19 | g.35732565G>T | CA405425205 | KMT2B | n.322G>T c.5950G>T (p.Glu1984Ter) c.3557G>T (n.3557G>T) c.1234G>T (p.Glu412Ter) n.1169G>T c.1237G>T (p.Glu413Ter) c.5558G>T c.6016G>T (p.Glu2006Ter) c.704+236G>T (n.704+236G>T) c.3338G>T c.5740G>T (p.Glu1914Ter) c.5452G>T (p.Glu1818Ter) c.2980G>T (p.Glu994Ter) | |
19 | g.35732566A>C | CA405425214 | KMT2B | n.323A>C c.5951A>C (p.Glu1984Ala) c.3558A>C (n.3558A>C) c.1235A>C (p.Glu412Ala) n.1170A>C c.1238A>C (p.Glu413Ala) c.5559A>C c.6017A>C (p.Glu2006Ala) c.704+237A>C (n.704+237A>C) c.3339A>C c.5741A>C (p.Glu1914Ala) c.5453A>C (p.Glu1818Ala) c.2981A>C (p.Glu994Ala) | |
19 | g.35732566A>G | CA405425217 | KMT2B | n.323A>G c.5951A>G (p.Glu1984Gly) c.3558A>G (n.3558A>G) c.1235A>G (p.Glu412Gly) n.1170A>G c.1238A>G (p.Glu413Gly) c.5559A>G c.6017A>G (p.Glu2006Gly) c.704+237A>G (n.704+237A>G) c.3339A>G c.5741A>G (p.Glu1914Gly) c.5453A>G (p.Glu1818Gly) c.2981A>G (p.Glu994Gly) | ClinVar gnomAD v4 |
19 | g.35732566A>T | CA405425220 | KMT2B | n.323A>T c.5951A>T (p.Glu1984Val) c.3558A>T (n.3558A>T) c.1235A>T (p.Glu412Val) n.1170A>T c.1238A>T (p.Glu413Val) c.5559A>T c.6017A>T (p.Glu2006Val) c.704+237A>T (n.704+237A>T) c.3339A>T c.5741A>T (p.Glu1914Val) c.5453A>T (p.Glu1818Val) c.2981A>T (p.Glu994Val) | |
19 | g.35732567G>A | CA9385580 | KMT2B | n.324G>A c.5952G>A (p.Glu1984=) c.3559G>A (n.3559G>A) c.1236G>A (p.Glu412=) n.1171G>A c.1239G>A (p.Glu413=) c.5560G>A c.6018G>A (p.Glu2006=) c.704+238G>A (n.704+238G>A) c.3340G>A c.5742G>A (p.Glu1914=) c.5454G>A (p.Glu1818=) c.2982G>A (p.Glu994=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732567G>C | CA405425227 | KMT2B | n.324G>C c.5952G>C (p.Glu1984Asp) c.3559G>C (n.3559G>C) c.1236G>C (p.Glu412Asp) n.1171G>C c.1239G>C (p.Glu413Asp) c.5560G>C c.6018G>C (p.Glu2006Asp) c.704+238G>C (n.704+238G>C) c.3340G>C c.5742G>C (p.Glu1914Asp) c.5454G>C (p.Glu1818Asp) c.2982G>C (p.Glu994Asp) | |
19 | g.35732567G= | CA2333794373 | KMT2B | n.324G= c.5952G= (p.Glu1984=) c.3559G= (n.3559G=) c.1236G= (p.Glu412=) n.1171G= c.1239G= (p.Glu413=) c.5560G= c.6018G= (p.Glu2006=) c.704+238G= (n.704+238G=) c.3340G= c.5742G= (p.Glu1914=) c.5454G= (p.Glu1818=) c.2982G= (p.Glu994=) | |
19 | g.35732567G>T | CA405425230 | KMT2B | n.324G>T c.5952G>T (p.Glu1984Asp) c.3559G>T (n.3559G>T) c.1236G>T (p.Glu412Asp) n.1171G>T c.1239G>T (p.Glu413Asp) c.5560G>T c.6018G>T (p.Glu2006Asp) c.704+238G>T (n.704+238G>T) c.3340G>T c.5742G>T (p.Glu1914Asp) c.5454G>T (p.Glu1818Asp) c.2982G>T (p.Glu994Asp) | |
19 | g.35732568A>C | CA405425232 | KMT2B | n.325A>C c.5953A>C (p.Ile1985Leu) c.3560A>C (n.3560A>C) c.1237A>C (p.Ile413Leu) n.1172A>C c.1240A>C (p.Ile414Leu) c.5561A>C c.6019A>C (p.Ile2007Leu) c.704+239A>C (n.704+239A>C) c.3341A>C c.5743A>C (p.Ile1915Leu) c.5455A>C (p.Ile1819Leu) c.2983A>C (p.Ile995Leu) | |
19 | g.35732568A>G | CA405425237 | KMT2B | n.325A>G c.5953A>G (p.Ile1985Val) c.3560A>G (n.3560A>G) c.1237A>G (p.Ile413Val) n.1172A>G c.1240A>G (p.Ile414Val) c.5561A>G c.6019A>G (p.Ile2007Val) c.704+239A>G (n.704+239A>G) c.3341A>G c.5743A>G (p.Ile1915Val) c.5455A>G (p.Ile1819Val) c.2983A>G (p.Ile995Val) | |
19 | g.35732568A>T | CA405425235 | KMT2B | n.325A>T c.5953A>T (p.Ile1985Phe) c.3560A>T (n.3560A>T) c.1237A>T (p.Ile413Phe) n.1172A>T c.1240A>T (p.Ile414Phe) c.5561A>T c.6019A>T (p.Ile2007Phe) c.704+239A>T (n.704+239A>T) c.3341A>T c.5743A>T (p.Ile1915Phe) c.5455A>T (p.Ile1819Phe) c.2983A>T (p.Ile995Phe) | |
19 | g.35732569T>A | CA405425242 | KMT2B | n.326T>A c.5954T>A (p.Ile1985Asn) c.3561T>A (n.3561T>A) c.1238T>A (p.Ile413Asn) n.1173T>A c.1241T>A (p.Ile414Asn) c.5562T>A c.6020T>A (p.Ile2007Asn) c.704+240T>A (n.704+240T>A) c.3342T>A c.5744T>A (p.Ile1915Asn) c.5456T>A (p.Ile1819Asn) c.2984T>A (p.Ile995Asn) | |
19 | g.35732569T>C | CA9385581 | KMT2B | n.326T>C c.5954T>C (p.Ile1985Thr) c.3561T>C (n.3561T>C) c.1238T>C (p.Ile413Thr) n.1173T>C c.1241T>C (p.Ile414Thr) c.5562T>C c.6020T>C (p.Ile2007Thr) c.704+240T>C (n.704+240T>C) c.3342T>C c.5744T>C (p.Ile1915Thr) c.5456T>C (p.Ile1819Thr) c.2984T>C (p.Ile995Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732569T>G | CA405425245 | KMT2B | n.326T>G c.5954T>G (p.Ile1985Ser) c.3561T>G (n.3561T>G) c.1238T>G (p.Ile413Ser) n.1173T>G c.1241T>G (p.Ile414Ser) c.5562T>G c.6020T>G (p.Ile2007Ser) c.704+240T>G (n.704+240T>G) c.3342T>G c.5744T>G (p.Ile1915Ser) c.5456T>G (p.Ile1819Ser) c.2984T>G (p.Ile995Ser) | |
19 | g.35732569T= | CA2333794374 | KMT2B | n.326T= c.5954T= (p.Ile1985=) c.3561T= (n.3561T=) c.1238T= (p.Ile413=) n.1173T= c.1241T= (p.Ile414=) c.5562T= c.6020T= (p.Ile2007=) c.704+240T= (n.704+240T=) c.3342T= c.5744T= (p.Ile1915=) c.5456T= (p.Ile1819=) c.2984T= (p.Ile995=) | |
19 | g.35732570T>A | CA507308213 | KMT2B | n.327T>A c.5955T>A (p.Ile1985=) c.3562T>A (n.3562T>A) c.1239T>A (p.Ile413=) n.1174T>A c.1242T>A (p.Ile414=) c.5563T>A c.6021T>A (p.Ile2007=) c.704+241T>A (n.704+241T>A) c.3343T>A c.5745T>A (p.Ile1915=) c.5457T>A (p.Ile1819=) c.2985T>A (p.Ile995=) | |
19 | g.35732570T>C | CA9385582 | KMT2B | n.327T>C c.5955T>C (p.Ile1985=) c.3562T>C (n.3562T>C) c.1239T>C (p.Ile413=) n.1174T>C c.1242T>C (p.Ile414=) c.5563T>C c.6021T>C (p.Ile2007=) c.704+241T>C (n.704+241T>C) c.3343T>C c.5745T>C (p.Ile1915=) c.5457T>C (p.Ile1819=) c.2985T>C (p.Ile995=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732570T>G | CA405425251 | KMT2B | n.327T>G c.5955T>G (p.Ile1985Met) c.3562T>G (n.3562T>G) c.1239T>G (p.Ile413Met) n.1174T>G c.1242T>G (p.Ile414Met) c.5563T>G c.6021T>G (p.Ile2007Met) c.704+241T>G (n.704+241T>G) c.3343T>G c.5745T>G (p.Ile1915Met) c.5457T>G (p.Ile1819Met) c.2985T>G (p.Ile995Met) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732570T= | CA2333794375 | KMT2B | n.327T= c.5955T= (p.Ile1985=) c.3562T= (n.3562T=) c.1239T= (p.Ile413=) n.1174T= c.1242T= (p.Ile414=) c.5563T= c.6021T= (p.Ile2007=) c.704+241T= (n.704+241T=) c.3343T= c.5745T= (p.Ile1915=) c.5457T= (p.Ile1819=) c.2985T= (p.Ile995=) | |
19 | g.35732571G>A | CA405425255 | KMT2B | n.328G>A c.5956G>A (p.Val1986Ile) c.3563G>A (n.3563G>A) c.1240G>A (p.Val414Ile) n.1175G>A c.1243G>A (p.Val415Ile) c.5564G>A c.6022G>A (p.Val2008Ile) c.704+242G>A (n.704+242G>A) c.3344G>A c.5746G>A (p.Val1916Ile) c.5458G>A (p.Val1820Ile) c.2986G>A (p.Val996Ile) | |
19 | g.35732571G>C | CA405425258 | KMT2B | n.328G>C c.5956G>C (p.Val1986Leu) c.3563G>C (n.3563G>C) c.1240G>C (p.Val414Leu) n.1175G>C c.1243G>C (p.Val415Leu) c.5564G>C c.6022G>C (p.Val2008Leu) c.704+242G>C (n.704+242G>C) c.3344G>C c.5746G>C (p.Val1916Leu) c.5458G>C (p.Val1820Leu) c.2986G>C (p.Val996Leu) | |
19 | g.35732571G= | CA2333794376 | KMT2B | n.328G= c.5956G= (p.Val1986=) c.3563G= (n.3563G=) c.1240G= (p.Val414=) n.1175G= c.1243G= (p.Val415=) c.5564G= c.6022G= (p.Val2008=) c.704+242G= (n.704+242G=) c.3344G= c.5746G= (p.Val1916=) c.5458G= (p.Val1820=) c.2986G= (p.Val996=) | |
19 | g.35732571G>T | CA9385583 | KMT2B | n.328G>T c.5956G>T (p.Val1986Leu) c.3563G>T (n.3563G>T) c.1240G>T (p.Val414Leu) n.1175G>T c.1243G>T (p.Val415Leu) c.5564G>T c.6022G>T (p.Val2008Leu) c.704+242G>T (n.704+242G>T) c.3344G>T c.5746G>T (p.Val1916Leu) c.5458G>T (p.Val1820Leu) c.2986G>T (p.Val996Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35732572T>A | CA405425263 | KMT2B | n.329T>A c.5957T>A (p.Val1986Glu) c.3564T>A (n.3564T>A) c.1241T>A (p.Val414Glu) n.1176T>A c.1244T>A (p.Val415Glu) c.5565T>A c.6023T>A (p.Val2008Glu) c.704+243T>A (n.704+243T>A) c.3345T>A c.5747T>A (p.Val1916Glu) c.5459T>A (p.Val1820Glu) c.2987T>A (p.Val996Glu) | |
19 | g.35732572T>C | CA405425266 | KMT2B | n.329T>C c.5957T>C (p.Val1986Ala) c.3564T>C (n.3564T>C) c.1241T>C (p.Val414Ala) n.1176T>C c.1244T>C (p.Val415Ala) c.5565T>C c.6023T>C (p.Val2008Ala) c.704+243T>C (n.704+243T>C) c.3345T>C c.5747T>C (p.Val1916Ala) c.5459T>C (p.Val1820Ala) c.2987T>C (p.Val996Ala) | |
19 | g.35732572T>G | CA405425269 | KMT2B | n.329T>G c.5957T>G (p.Val1986Gly) c.3564T>G (n.3564T>G) c.1241T>G (p.Val414Gly) n.1176T>G c.1244T>G (p.Val415Gly) c.5565T>G c.6023T>G (p.Val2008Gly) c.704+243T>G (n.704+243T>G) c.3345T>G c.5747T>G (p.Val1916Gly) c.5459T>G (p.Val1820Gly) c.2987T>G (p.Val996Gly) | |
19 | g.35732573A= | CA2333794377 | KMT2B | n.330A= c.5958A= (p.Val1986=) c.3565A= (n.3565A=) c.1242A= (p.Val414=) n.1177A= c.1245A= (p.Val415=) c.5566A= c.6024A= (p.Val2008=) c.704+244A= (n.704+244A=) c.3346A= c.5748A= (p.Val1916=) c.5460A= (p.Val1820=) c.2988A= (p.Val996=) | |
19 | g.35732573A>C | CA507308218 | KMT2B | n.330A>C c.5958A>C (p.Val1986=) c.3565A>C (n.3565A>C) c.1242A>C (p.Val414=) n.1177A>C c.1245A>C (p.Val415=) c.5566A>C c.6024A>C (p.Val2008=) c.704+244A>C (n.704+244A>C) c.3346A>C c.5748A>C (p.Val1916=) c.5460A>C (p.Val1820=) c.2988A>C (p.Val996=) | |
19 | g.35732573A>G | CA9385584 | KMT2B | n.330A>G c.5958A>G (p.Val1986=) c.3565A>G (n.3565A>G) c.1242A>G (p.Val414=) n.1177A>G c.1245A>G (p.Val415=) c.5566A>G c.6024A>G (p.Val2008=) c.704+244A>G (n.704+244A>G) c.3346A>G c.5748A>G (p.Val1916=) c.5460A>G (p.Val1820=) c.2988A>G (p.Val996=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35732573A>T | CA507308216 | KMT2B | n.330A>T c.5958A>T (p.Val1986=) c.3565A>T (n.3565A>T) c.1242A>T (p.Val414=) n.1177A>T c.1245A>T (p.Val415=) c.5566A>T c.6024A>T (p.Val2008=) c.704+244A>T (n.704+244A>T) c.3346A>T c.5748A>T (p.Val1916=) c.5460A>T (p.Val1820=) c.2988A>T (p.Val996=) | |
19 | g.35732574G>A | CA405425280 | KMT2B | n.331G>A c.5959G>A (p.Ala1987Thr) c.3566G>A (n.3566G>A) c.1243G>A (p.Ala415Thr) n.1178G>A c.1246G>A (p.Ala416Thr) c.5567G>A c.6025G>A (p.Ala2009Thr) c.704+245G>A (n.704+245G>A) c.3347G>A c.5749G>A (p.Ala1917Thr) c.5461G>A (p.Ala1821Thr) c.2989G>A (p.Ala997Thr) | |
19 | g.35732574G>C | CA405425283 | KMT2B | n.331G>C c.5959G>C (p.Ala1987Pro) c.3566G>C (n.3566G>C) c.1243G>C (p.Ala415Pro) n.1178G>C c.1246G>C (p.Ala416Pro) c.5567G>C c.6025G>C (p.Ala2009Pro) c.704+245G>C (n.704+245G>C) c.3347G>C c.5749G>C (p.Ala1917Pro) c.5461G>C (p.Ala1821Pro) c.2989G>C (p.Ala997Pro) | gnomAD v4 |
19 | g.35732574G>T | CA405425277 | KMT2B | n.331G>T c.5959G>T (p.Ala1987Ser) c.3566G>T (n.3566G>T) c.1243G>T (p.Ala415Ser) n.1178G>T c.1246G>T (p.Ala416Ser) c.5567G>T c.6025G>T (p.Ala2009Ser) c.704+245G>T (n.704+245G>T) c.3347G>T c.5749G>T (p.Ala1917Ser) c.5461G>T (p.Ala1821Ser) c.2989G>T (p.Ala997Ser) | |
19 | g.35732575C>A | CA405425287 | KMT2B | n.332C>A c.5960C>A (p.Ala1987Asp) c.3567C>A (n.3567C>A) c.1244C>A (p.Ala415Asp) n.1179C>A c.1247C>A (p.Ala416Asp) c.5568C>A c.6026C>A (p.Ala2009Asp) c.704+246C>A (n.704+246C>A) c.3348C>A c.5750C>A (p.Ala1917Asp) c.5462C>A (p.Ala1821Asp) c.2990C>A (p.Ala997Asp) | |
19 | g.35732575C>G | CA405425291 | KMT2B | n.332C>G c.5960C>G (p.Ala1987Gly) c.3567C>G (n.3567C>G) c.1244C>G (p.Ala415Gly) n.1179C>G c.1247C>G (p.Ala416Gly) c.5568C>G c.6026C>G (p.Ala2009Gly) c.704+246C>G (n.704+246C>G) c.3348C>G c.5750C>G (p.Ala1917Gly) c.5462C>G (p.Ala1821Gly) c.2990C>G (p.Ala997Gly) | |
19 | g.35732575C>T | CA405425288 | KMT2B | n.332C>T c.5960C>T (p.Ala1987Val) c.3567C>T (n.3567C>T) c.1244C>T (p.Ala415Val) n.1179C>T c.1247C>T (p.Ala416Val) c.5568C>T c.6026C>T (p.Ala2009Val) c.704+246C>T (n.704+246C>T) c.3348C>T c.5750C>T (p.Ala1917Val) c.5462C>T (p.Ala1821Val) c.2990C>T (p.Ala997Val) | gnomAD v4 COSMIC |
19 | g.35732576C>A | CA507308232 | KMT2B | n.333C>A c.5961C>A (p.Ala1987=) c.3568C>A (n.3568C>A) c.1245C>A (p.Ala415=) n.1180C>A c.1248C>A (p.Ala416=) c.5569C>A c.6027C>A (p.Ala2009=) c.704+247C>A (n.704+247C>A) c.3349C>A c.5751C>A (p.Ala1917=) c.5463C>A (p.Ala1821=) c.2991C>A (p.Ala997=) | |
19 | g.35732576C= | CA2333794378 | KMT2B | n.333C= c.5961C= (p.Ala1987=) c.3568C= (n.3568C=) c.1245C= (p.Ala415=) n.1180C= c.1248C= (p.Ala416=) c.5569C= c.6027C= (p.Ala2009=) c.704+247C= (n.704+247C=) c.3349C= c.5751C= (p.Ala1917=) c.5463C= (p.Ala1821=) c.2991C= (p.Ala997=) | |
19 | g.35732576C>G | CA307796070 | KMT2B | n.333C>G c.5961C>G (p.Ala1987=) c.3568C>G (n.3568C>G) c.1245C>G (p.Ala415=) n.1180C>G c.1248C>G (p.Ala416=) c.5569C>G c.6027C>G (p.Ala2009=) c.704+247C>G (n.704+247C>G) c.3349C>G c.5751C>G (p.Ala1917=) c.5463C>G (p.Ala1821=) c.2991C>G (p.Ala997=) | dbSNP gnomAD v4 |
19 | g.35732576C>T | CA9385585 | KMT2B | n.333C>T c.5961C>T (p.Ala1987=) c.3568C>T (n.3568C>T) c.1245C>T (p.Ala415=) n.1180C>T c.1248C>T (p.Ala416=) c.5569C>T c.6027C>T (p.Ala2009=) c.704+247C>T (n.704+247C>T) c.3349C>T c.5751C>T (p.Ala1917=) c.5463C>T (p.Ala1821=) c.2991C>T (p.Ala997=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732577G>A | CA9385587 | KMT2B | n.334G>A c.5962G>A (p.Ala1988Thr) c.3569G>A (n.3569G>A) c.1246G>A (p.Ala416Thr) n.1181G>A c.1249G>A (p.Ala417Thr) c.5570G>A c.6028G>A (p.Ala2010Thr) c.704+248G>A (n.704+248G>A) c.3350G>A c.5752G>A (p.Ala1918Thr) c.5464G>A (p.Ala1822Thr) c.2992G>A (p.Ala998Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732577G>C | CA307796111 | KMT2B | n.334G>C c.5962G>C (p.Ala1988Pro) c.3569G>C (n.3569G>C) c.1246G>C (p.Ala416Pro) n.1181G>C c.1249G>C (p.Ala417Pro) c.5570G>C c.6028G>C (p.Ala2010Pro) c.704+248G>C (n.704+248G>C) c.3350G>C c.5752G>C (p.Ala1918Pro) c.5464G>C (p.Ala1822Pro) c.2992G>C (p.Ala998Pro) | ClinVar dbSNP |
19 | g.35732577G= | CA2333794379 | KMT2B | n.334G= c.5962G= (p.Ala1988=) c.3569G= (n.3569G=) c.1246G= (p.Ala416=) n.1181G= c.1249G= (p.Ala417=) c.5570G= c.6028G= (p.Ala2010=) c.704+248G= (n.704+248G=) c.3350G= c.5752G= (p.Ala1918=) c.5464G= (p.Ala1822=) c.2992G= (p.Ala998=) | |
19 | g.35732577G>T | CA9385586 | KMT2B | n.334G>T c.5962G>T (p.Ala1988Ser) c.3569G>T (n.3569G>T) c.1246G>T (p.Ala416Ser) n.1181G>T c.1249G>T (p.Ala417Ser) c.5570G>T c.6028G>T (p.Ala2010Ser) c.704+248G>T (n.704+248G>T) c.3350G>T c.5752G>T (p.Ala1918Ser) c.5464G>T (p.Ala1822Ser) c.2992G>T (p.Ala998Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732578C>A | CA405425308 | KMT2B | n.335C>A c.5963C>A (p.Ala1988Asp) c.3570C>A (n.3570C>A) c.1247C>A (p.Ala416Asp) n.1182C>A c.1250C>A (p.Ala417Asp) c.5571C>A c.6029C>A (p.Ala2010Asp) c.704+249C>A (n.704+249C>A) c.3351C>A c.5753C>A (p.Ala1918Asp) c.5465C>A (p.Ala1822Asp) c.2993C>A (p.Ala998Asp) | |
19 | g.35732578C= | CA2333794380 | KMT2B | n.335C= c.5963C= (p.Ala1988=) c.3570C= (n.3570C=) c.1247C= (p.Ala416=) n.1182C= c.1250C= (p.Ala417=) c.5571C= c.6029C= (p.Ala2010=) c.704+249C= (n.704+249C=) c.3351C= c.5753C= (p.Ala1918=) c.5465C= (p.Ala1822=) c.2993C= (p.Ala998=) | |
19 | g.35732578C>G | CA405425310 | KMT2B | n.335C>G c.5963C>G (p.Ala1988Gly) c.3570C>G (n.3570C>G) c.1247C>G (p.Ala416Gly) n.1182C>G c.1250C>G (p.Ala417Gly) c.5571C>G c.6029C>G (p.Ala2010Gly) c.704+249C>G (n.704+249C>G) c.3351C>G c.5753C>G (p.Ala1918Gly) c.5465C>G (p.Ala1822Gly) c.2993C>G (p.Ala998Gly) | |
19 | g.35732578C>T | CA9385588 | KMT2B | n.335C>T c.5963C>T (p.Ala1988Val) c.3570C>T (n.3570C>T) c.1247C>T (p.Ala416Val) n.1182C>T c.1250C>T (p.Ala417Val) c.5571C>T c.6029C>T (p.Ala2010Val) c.704+249C>T (n.704+249C>T) c.3351C>T c.5753C>T (p.Ala1918Val) c.5465C>T (p.Ala1822Val) c.2993C>T (p.Ala998Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732579T>A | CA507308238 | KMT2B | n.336T>A c.5964T>A (p.Ala1988=) c.3571T>A (n.3571T>A) c.1248T>A (p.Ala416=) n.1183T>A c.1251T>A (p.Ala417=) c.5572T>A c.6030T>A (p.Ala2010=) c.704+250T>A (n.704+250T>A) c.3352T>A c.5754T>A (p.Ala1918=) c.5466T>A (p.Ala1822=) c.2994T>A (p.Ala998=) | |
19 | g.35732579T>C | CA507308240 | KMT2B | n.336T>C c.5964T>C (p.Ala1988=) c.3571T>C (n.3571T>C) c.1248T>C (p.Ala416=) n.1183T>C c.1251T>C (p.Ala417=) c.5572T>C c.6030T>C (p.Ala2010=) c.704+250T>C (n.704+250T>C) c.3352T>C c.5754T>C (p.Ala1918=) c.5466T>C (p.Ala1822=) c.2994T>C (p.Ala998=) | dbSNP |
19 | g.35732579T>G | CA507308243 | KMT2B | n.336T>G c.5964T>G (p.Ala1988=) c.3571T>G (n.3571T>G) c.1248T>G (p.Ala416=) n.1183T>G c.1251T>G (p.Ala417=) c.5572T>G c.6030T>G (p.Ala2010=) c.704+250T>G (n.704+250T>G) c.3352T>G c.5754T>G (p.Ala1918=) c.5466T>G (p.Ala1822=) c.2994T>G (p.Ala998=) | |
19 | g.35732579T= | CA2333794381 | KMT2B | n.336T= c.5964T= (p.Ala1988=) c.3571T= (n.3571T=) c.1248T= (p.Ala416=) n.1183T= c.1251T= (p.Ala417=) c.5572T= c.6030T= (p.Ala2010=) c.704+250T= (n.704+250T=) c.3352T= c.5754T= (p.Ala1918=) c.5466T= (p.Ala1822=) c.2994T= (p.Ala998=) | |
19 | g.35732580G>A | CA405425314 | KMT2B | n.337G>A c.5965G>A (p.Gly1989Arg) c.3572G>A (n.3572G>A) c.1249G>A (p.Gly417Arg) n.1184G>A c.1252G>A (p.Gly418Arg) c.5573G>A c.6031G>A (p.Gly2011Arg) c.704+251G>A (n.704+251G>A) c.3353G>A c.5755G>A (p.Gly1919Arg) c.5467G>A (p.Gly1823Arg) c.2995G>A (p.Gly999Arg) | |
19 | g.35732580G>C | CA405425318 | KMT2B | n.337G>C c.5965G>C (p.Gly1989Arg) c.3572G>C (n.3572G>C) c.1249G>C (p.Gly417Arg) n.1184G>C c.1252G>C (p.Gly418Arg) c.5573G>C c.6031G>C (p.Gly2011Arg) c.704+251G>C (n.704+251G>C) c.3353G>C c.5755G>C (p.Gly1919Arg) c.5467G>C (p.Gly1823Arg) c.2995G>C (p.Gly999Arg) | |
19 | g.35732580G>T | CA405425316 | KMT2B | n.337G>T c.5965G>T (p.Gly1989Trp) c.3572G>T (n.3572G>T) c.1249G>T (p.Gly417Trp) n.1184G>T c.1252G>T (p.Gly418Trp) c.5573G>T c.6031G>T (p.Gly2011Trp) c.704+251G>T (n.704+251G>T) c.3353G>T c.5755G>T (p.Gly1919Trp) c.5467G>T (p.Gly1823Trp) c.2995G>T (p.Gly999Trp) | |
19 | g.35732581G>A | CA405425320 | KMT2B | n.338G>A c.5966G>A (p.Gly1989Glu) c.3573G>A (n.3573G>A) c.1250G>A (p.Gly417Glu) n.1185G>A c.1253G>A (p.Gly418Glu) c.5574G>A c.6032G>A (p.Gly2011Glu) c.704+252G>A (n.704+252G>A) c.3354G>A c.5756G>A (p.Gly1919Glu) c.5468G>A (p.Gly1823Glu) c.2996G>A (p.Gly999Glu) | |
19 | g.35732581G>C | CA405425321 | KMT2B | n.338G>C c.5966G>C (p.Gly1989Ala) c.3573G>C (n.3573G>C) c.1250G>C (p.Gly417Ala) n.1185G>C c.1253G>C (p.Gly418Ala) c.5574G>C c.6032G>C (p.Gly2011Ala) c.704+252G>C (n.704+252G>C) c.3354G>C c.5756G>C (p.Gly1919Ala) c.5468G>C (p.Gly1823Ala) c.2996G>C (p.Gly999Ala) | |
19 | g.35732581G>T | CA405425323 | KMT2B | n.338G>T c.5966G>T (p.Gly1989Val) c.3573G>T (n.3573G>T) c.1250G>T (p.Gly417Val) n.1185G>T c.1253G>T (p.Gly418Val) c.5574G>T c.6032G>T (p.Gly2011Val) c.704+252G>T (n.704+252G>T) c.3354G>T c.5756G>T (p.Gly1919Val) c.5468G>T (p.Gly1823Val) c.2996G>T (p.Gly999Val) | |
19 | g.35732582G>A | CA507308248 | KMT2B | n.339G>A c.5967G>A (p.Gly1989=) c.3574G>A (n.3574G>A) c.1251G>A (p.Gly417=) n.1186G>A c.1254G>A (p.Gly418=) c.5575G>A c.6033G>A (p.Gly2011=) c.704+253G>A (n.704+253G>A) c.3355G>A c.5757G>A (p.Gly1919=) c.5469G>A (p.Gly1823=) c.2997G>A (p.Gly999=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35732582G>C | CA507308252 | KMT2B | n.339G>C c.5967G>C (p.Gly1989=) c.3574G>C (n.3574G>C) c.1251G>C (p.Gly417=) n.1186G>C c.1254G>C (p.Gly418=) c.5575G>C c.6033G>C (p.Gly2011=) c.704+253G>C (n.704+253G>C) c.3355G>C c.5757G>C (p.Gly1919=) c.5469G>C (p.Gly1823=) c.2997G>C (p.Gly999=) | |
19 | g.35732582G= | CA2333794382 | KMT2B | n.339G= c.5967G= (p.Gly1989=) c.3574G= (n.3574G=) c.1251G= (p.Gly417=) n.1186G= c.1254G= (p.Gly418=) c.5575G= c.6033G= (p.Gly2011=) c.704+253G= (n.704+253G=) c.3355G= c.5757G= (p.Gly1919=) c.5469G= (p.Gly1823=) c.2997G= (p.Gly999=) | |
19 | g.35732582G>T | CA9385589 | KMT2B | n.339G>T c.5967G>T (p.Gly1989=) c.3574G>T (n.3574G>T) c.1251G>T (p.Gly417=) n.1186G>T c.1254G>T (p.Gly418=) c.5575G>T c.6033G>T (p.Gly2011=) c.704+253G>T (n.704+253G>T) c.3355G>T c.5757G>T (p.Gly1919=) c.5469G>T (p.Gly1823=) c.2997G>T (p.Gly999=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732583G>A | CA9385590 | KMT2B | n.340G>A c.5968G>A (p.Ala1990Thr) c.3575G>A (n.3575G>A) c.1252G>A (p.Ala418Thr) n.1187G>A c.1255G>A (p.Ala419Thr) c.5576G>A c.6034G>A (p.Ala2012Thr) c.704+254G>A (n.704+254G>A) c.3356G>A c.5758G>A (p.Ala1920Thr) c.5470G>A (p.Ala1824Thr) c.2998G>A (p.Ala1000Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35732583G>C | CA405425327 | KMT2B | n.340G>C c.5968G>C (p.Ala1990Pro) c.3575G>C (n.3575G>C) c.1252G>C (p.Ala418Pro) n.1187G>C c.1255G>C (p.Ala419Pro) c.5576G>C c.6034G>C (p.Ala2012Pro) c.704+254G>C (n.704+254G>C) c.3356G>C c.5758G>C (p.Ala1920Pro) c.5470G>C (p.Ala1824Pro) c.2998G>C (p.Ala1000Pro) | |
19 | g.35732583G= | CA2333794383 | KMT2B | n.340G= c.5968G= (p.Ala1990=) c.3575G= (n.3575G=) c.1252G= (p.Ala418=) n.1187G= c.1255G= (p.Ala419=) c.5576G= c.6034G= (p.Ala2012=) c.704+254G= (n.704+254G=) c.3356G= c.5758G= (p.Ala1920=) c.5470G= (p.Ala1824=) c.2998G= (p.Ala1000=) | |
19 | g.35732583G>T | CA405425328 | KMT2B | n.340G>T c.5968G>T (p.Ala1990Ser) c.3575G>T (n.3575G>T) c.1252G>T (p.Ala418Ser) n.1187G>T c.1255G>T (p.Ala419Ser) c.5576G>T c.6034G>T (p.Ala2012Ser) c.704+254G>T (n.704+254G>T) c.3356G>T c.5758G>T (p.Ala1920Ser) c.5470G>T (p.Ala1824Ser) c.2998G>T (p.Ala1000Ser) | |
19 | g.35732584C>A | CA405425330 | KMT2B | n.341C>A c.5969C>A (p.Ala1990Asp) c.3576C>A (n.3576C>A) c.1253C>A (p.Ala418Asp) n.1188C>A c.1256C>A (p.Ala419Asp) c.5577C>A c.6035C>A (p.Ala2012Asp) c.704+255C>A (n.704+255C>A) c.3357C>A c.5759C>A (p.Ala1920Asp) c.5471C>A (p.Ala1824Asp) c.2999C>A (p.Ala1000Asp) | dbSNP |
19 | g.35732584C= | CA2333794384 | KMT2B | n.341C= c.5969C= (p.Ala1990=) c.3576C= (n.3576C=) c.1253C= (p.Ala418=) n.1188C= c.1256C= (p.Ala419=) c.5577C= c.6035C= (p.Ala2012=) c.704+255C= (n.704+255C=) c.3357C= c.5759C= (p.Ala1920=) c.5471C= (p.Ala1824=) c.2999C= (p.Ala1000=) | |
19 | g.35732584C>G | CA405425332 | KMT2B | n.341C>G c.5969C>G (p.Ala1990Gly) c.3576C>G (n.3576C>G) c.1253C>G (p.Ala418Gly) n.1188C>G c.1256C>G (p.Ala419Gly) c.5577C>G c.6035C>G (p.Ala2012Gly) c.704+255C>G (n.704+255C>G) c.3357C>G c.5759C>G (p.Ala1920Gly) c.5471C>G (p.Ala1824Gly) c.2999C>G (p.Ala1000Gly) | |
19 | g.35732584C>T | CA405425333 | KMT2B | n.341C>T c.5969C>T (p.Ala1990Val) c.3576C>T (n.3576C>T) c.1253C>T (p.Ala418Val) n.1188C>T c.1256C>T (p.Ala419Val) c.5577C>T c.6035C>T (p.Ala2012Val) c.704+255C>T (n.704+255C>T) c.3357C>T c.5759C>T (p.Ala1920Val) c.5471C>T (p.Ala1824Val) c.2999C>T (p.Ala1000Val) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732585C>A | CA507308260 | KMT2B | n.342C>A c.5970C>A (p.Ala1990=) c.3577C>A (n.3577C>A) c.1254C>A (p.Ala418=) n.1189C>A c.1257C>A (p.Ala419=) c.5578C>A c.6036C>A (p.Ala2012=) c.704+256C>A (n.704+256C>A) c.3358C>A c.5760C>A (p.Ala1920=) c.5472C>A (p.Ala1824=) c.3000C>A (p.Ala1000=) | |
19 | g.35732585C>G | CA507308264 | KMT2B | n.342C>G c.5970C>G (p.Ala1990=) c.3577C>G (n.3577C>G) c.1254C>G (p.Ala418=) n.1189C>G c.1257C>G (p.Ala419=) c.5578C>G c.6036C>G (p.Ala2012=) c.704+256C>G (n.704+256C>G) c.3358C>G c.5760C>G (p.Ala1920=) c.5472C>G (p.Ala1824=) c.3000C>G (p.Ala1000=) | |
19 | g.35732585C>T | CA507308263 | KMT2B | n.342C>T c.5970C>T (p.Ala1990=) c.3577C>T (n.3577C>T) c.1254C>T (p.Ala418=) n.1189C>T c.1257C>T (p.Ala419=) c.5578C>T c.6036C>T (p.Ala2012=) c.704+256C>T (n.704+256C>T) c.3358C>T c.5760C>T (p.Ala1920=) c.5472C>T (p.Ala1824=) c.3000C>T (p.Ala1000=) | |
19 | g.35732586A= | CA2333794385 | KMT2B | n.343A= c.5971A= (p.Met1991=) c.3578A= (n.3578A=) c.1255A= (p.Met419=) n.1190A= c.1258A= (p.Met420=) c.5579A= c.6037A= (p.Met2013=) c.704+257A= (n.704+257A=) c.3359A= c.5761A= (p.Met1921=) c.5473A= (p.Met1825=) c.3001A= (p.Met1001=) | |
19 | g.35732586A>C | CA405425334 | KMT2B | n.343A>C c.5971A>C (p.Met1991Leu) c.3578A>C (n.3578A>C) c.1255A>C (p.Met419Leu) n.1190A>C c.1258A>C (p.Met420Leu) c.5579A>C c.6037A>C (p.Met2013Leu) c.704+257A>C (n.704+257A>C) c.3359A>C c.5761A>C (p.Met1921Leu) c.5473A>C (p.Met1825Leu) c.3001A>C (p.Met1001Leu) | |
19 | g.35732586A>G | CA9385591 | KMT2B | n.343A>G c.5971A>G (p.Met1991Val) c.3578A>G (n.3578A>G) c.1255A>G (p.Met419Val) n.1190A>G c.1258A>G (p.Met420Val) c.5579A>G c.6037A>G (p.Met2013Val) c.704+257A>G (n.704+257A>G) c.3359A>G c.5761A>G (p.Met1921Val) c.5473A>G (p.Met1825Val) c.3001A>G (p.Met1001Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732586A>T | CA405425335 | KMT2B | n.343A>T c.5971A>T (p.Met1991Leu) c.3578A>T (n.3578A>T) c.1255A>T (p.Met419Leu) n.1190A>T c.1258A>T (p.Met420Leu) c.5579A>T c.6037A>T (p.Met2013Leu) c.704+257A>T (n.704+257A>T) c.3359A>T c.5761A>T (p.Met1921Leu) c.5473A>T (p.Met1825Leu) c.3001A>T (p.Met1001Leu) | |
19 | g.35732587T>A | CA405425338 | KMT2B | n.344T>A c.5972T>A (p.Met1991Lys) c.3579T>A (n.3579T>A) c.1256T>A (p.Met419Lys) n.1191T>A c.1259T>A (p.Met420Lys) c.5580T>A c.6038T>A (p.Met2013Lys) c.704+258T>A (n.704+258T>A) c.3360T>A c.5762T>A (p.Met1921Lys) c.5474T>A (p.Met1825Lys) c.3002T>A (p.Met1001Lys) | |
19 | g.35732587T>C | CA405425339 | KMT2B | n.344T>C c.5972T>C (p.Met1991Thr) c.3579T>C (n.3579T>C) c.1256T>C (p.Met419Thr) n.1191T>C c.1259T>C (p.Met420Thr) c.5580T>C c.6038T>C (p.Met2013Thr) c.704+258T>C (n.704+258T>C) c.3360T>C c.5762T>C (p.Met1921Thr) c.5474T>C (p.Met1825Thr) c.3002T>C (p.Met1001Thr) | |
19 | g.35732587T>G | CA405425341 | KMT2B | n.344T>G c.5972T>G (p.Met1991Arg) c.3579T>G (n.3579T>G) c.1256T>G (p.Met419Arg) n.1191T>G c.1259T>G (p.Met420Arg) c.5580T>G c.6038T>G (p.Met2013Arg) c.704+258T>G (n.704+258T>G) c.3360T>G c.5762T>G (p.Met1921Arg) c.5474T>G (p.Met1825Arg) c.3002T>G (p.Met1001Arg) | |
19 | g.35732588G>A | CA405425344 | KMT2B | n.345G>A c.5973G>A (p.Met1991Ile) c.3580G>A (n.3580G>A) c.1257G>A (p.Met419Ile) n.1192G>A c.1260G>A (p.Met420Ile) c.5581G>A c.6039G>A (p.Met2013Ile) c.704+259G>A (n.704+259G>A) c.3361G>A c.5763G>A (p.Met1921Ile) c.5475G>A (p.Met1825Ile) c.3003G>A (p.Met1001Ile) | |
19 | g.35732588G>C | CA405425346 | KMT2B | n.345G>C c.5973G>C (p.Met1991Ile) c.3580G>C (n.3580G>C) c.1257G>C (p.Met419Ile) n.1192G>C c.1260G>C (p.Met420Ile) c.5581G>C c.6039G>C (p.Met2013Ile) c.704+259G>C (n.704+259G>C) c.3361G>C c.5763G>C (p.Met1921Ile) c.5475G>C (p.Met1825Ile) c.3003G>C (p.Met1001Ile) | |
19 | g.35732588G>T | CA405425350 | KMT2B | n.345G>T c.5973G>T (p.Met1991Ile) c.3580G>T (n.3580G>T) c.1257G>T (p.Met419Ile) n.1192G>T c.1260G>T (p.Met420Ile) c.5581G>T c.6039G>T (p.Met2013Ile) c.704+259G>T (n.704+259G>T) c.3361G>T c.5763G>T (p.Met1921Ile) c.5475G>T (p.Met1825Ile) c.3003G>T (p.Met1001Ile) | |
19 | g.35732589G>A | CA405425352 | KMT2B | n.346G>A c.5974G>A (p.Gly1992Arg) c.3581G>A (n.3581G>A) c.1258G>A (p.Gly420Arg) n.1193G>A c.1261G>A (p.Gly421Arg) c.5582G>A c.6040G>A (p.Gly2014Arg) c.704+260G>A (n.704+260G>A) c.3362G>A c.5764G>A (p.Gly1922Arg) c.5476G>A (p.Gly1826Arg) c.3004G>A (p.Gly1002Arg) | |
19 | g.35732589G>C | CA405425359 | KMT2B | n.346G>C c.5974G>C (p.Gly1992Arg) c.3581G>C (n.3581G>C) c.1258G>C (p.Gly420Arg) n.1193G>C c.1261G>C (p.Gly421Arg) c.5582G>C c.6040G>C (p.Gly2014Arg) c.704+260G>C (n.704+260G>C) c.3362G>C c.5764G>C (p.Gly1922Arg) c.5476G>C (p.Gly1826Arg) c.3004G>C (p.Gly1002Arg) | |
19 | g.35732589G>T | CA405425357 | KMT2B | n.346G>T c.5974G>T (p.Gly1992Trp) c.3581G>T (n.3581G>T) c.1258G>T (p.Gly420Trp) n.1193G>T c.1261G>T (p.Gly421Trp) c.5582G>T c.6040G>T (p.Gly2014Trp) c.704+260G>T (n.704+260G>T) c.3362G>T c.5764G>T (p.Gly1922Trp) c.5476G>T (p.Gly1826Trp) c.3004G>T (p.Gly1002Trp) | |
19 | g.35732590G>A | CA9385592 | KMT2B | n.347G>A c.5975G>A (p.Gly1992Glu) c.3582G>A (n.3582G>A) c.1259G>A (p.Gly420Glu) n.1194G>A c.1262G>A (p.Gly421Glu) c.5583G>A c.6041G>A (p.Gly2014Glu) c.704+261G>A (n.704+261G>A) c.3363G>A c.5765G>A (p.Gly1922Glu) c.5477G>A (p.Gly1826Glu) c.3005G>A (p.Gly1002Glu) | dbSNP ExAC gnomAD v2 |
19 | g.35732590G>C | CA405425367 | KMT2B | n.347G>C c.5975G>C (p.Gly1992Ala) c.3582G>C (n.3582G>C) c.1259G>C (p.Gly420Ala) n.1194G>C c.1262G>C (p.Gly421Ala) c.5583G>C c.6041G>C (p.Gly2014Ala) c.704+261G>C (n.704+261G>C) c.3363G>C c.5765G>C (p.Gly1922Ala) c.5477G>C (p.Gly1826Ala) c.3005G>C (p.Gly1002Ala) | |
19 | g.35732590G= | CA2333794386 | KMT2B | n.347G= c.5975G= (p.Gly1992=) c.3582G= (n.3582G=) c.1259G= (p.Gly420=) n.1194G= c.1262G= (p.Gly421=) c.5583G= c.6041G= (p.Gly2014=) c.704+261G= (n.704+261G=) c.3363G= c.5765G= (p.Gly1922=) c.5477G= (p.Gly1826=) c.3005G= (p.Gly1002=) | |
19 | g.35732590G>T | CA405425369 | KMT2B | n.347G>T c.5975G>T (p.Gly1992Val) c.3582G>T (n.3582G>T) c.1259G>T (p.Gly420Val) n.1194G>T c.1262G>T (p.Gly421Val) c.5583G>T c.6041G>T (p.Gly2014Val) c.704+261G>T (n.704+261G>T) c.3363G>T c.5765G>T (p.Gly1922Val) c.5477G>T (p.Gly1826Val) c.3005G>T (p.Gly1002Val) | |
19 | g.35732591G>A | CA507308273 | KMT2B | n.348G>A c.5976G>A (p.Gly1992=) c.3583G>A (n.3583G>A) c.1260G>A (p.Gly420=) n.1195G>A c.1263G>A (p.Gly421=) c.5584G>A c.6042G>A (p.Gly2014=) c.704+262G>A (n.704+262G>A) c.3364G>A c.5766G>A (p.Gly1922=) c.5478G>A (p.Gly1826=) c.3006G>A (p.Gly1002=) | |
19 | g.35732591G>C | CA507308275 | KMT2B | n.348G>C c.5976G>C (p.Gly1992=) c.3583G>C (n.3583G>C) c.1260G>C (p.Gly420=) n.1195G>C c.1263G>C (p.Gly421=) c.5584G>C c.6042G>C (p.Gly2014=) c.704+262G>C (n.704+262G>C) c.3364G>C c.5766G>C (p.Gly1922=) c.5478G>C (p.Gly1826=) c.3006G>C (p.Gly1002=) | |
19 | g.35732591G= | CA2333794387 | KMT2B | n.348G= c.5976G= (p.Gly1992=) c.3583G= (n.3583G=) c.1260G= (p.Gly420=) n.1195G= c.1263G= (p.Gly421=) c.5584G= c.6042G= (p.Gly2014=) c.704+262G= (n.704+262G=) c.3364G= c.5766G= (p.Gly1922=) c.5478G= (p.Gly1826=) c.3006G= (p.Gly1002=) | |
19 | g.35732591G>T | CA9385593 | KMT2B | n.348G>T c.5976G>T (p.Gly1992=) c.3583G>T (n.3583G>T) c.1260G>T (p.Gly420=) n.1195G>T c.1263G>T (p.Gly421=) c.5584G>T c.6042G>T (p.Gly2014=) c.704+262G>T (n.704+262G>T) c.3364G>T c.5766G>T (p.Gly1922=) c.5478G>T (p.Gly1826=) c.3006G>T (p.Gly1002=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35732592A>C | CA405425376 | KMT2B | n.349A>C c.5977A>C (p.Ser1993Arg) c.3584A>C (n.3584A>C) c.1261A>C (p.Ser421Arg) n.1196A>C c.1264A>C (p.Ser422Arg) c.5585A>C c.6043A>C (p.Ser2015Arg) c.704+263A>C (n.704+263A>C) c.3365A>C c.5767A>C (p.Ser1923Arg) c.5479A>C (p.Ser1827Arg) c.3007A>C (p.Ser1003Arg) | |
19 | g.35732592A>G | CA405425378 | KMT2B | n.349A>G c.5977A>G (p.Ser1993Gly) c.3584A>G (n.3584A>G) c.1261A>G (p.Ser421Gly) n.1196A>G c.1264A>G (p.Ser422Gly) c.5585A>G c.6043A>G (p.Ser2015Gly) c.704+263A>G (n.704+263A>G) c.3365A>G c.5767A>G (p.Ser1923Gly) c.5479A>G (p.Ser1827Gly) c.3007A>G (p.Ser1003Gly) | |
19 | g.35732592A>T | CA405425380 | KMT2B | n.349A>T c.5977A>T (p.Ser1993Cys) c.3584A>T (n.3584A>T) c.1261A>T (p.Ser421Cys) n.1196A>T c.1264A>T (p.Ser422Cys) c.5585A>T c.6043A>T (p.Ser2015Cys) c.704+263A>T (n.704+263A>T) c.3365A>T c.5767A>T (p.Ser1923Cys) c.5479A>T (p.Ser1827Cys) c.3007A>T (p.Ser1003Cys) | |
19 | g.35732593G>A | CA405425383 | KMT2B | n.350G>A c.5978G>A (p.Ser1993Asn) c.3585G>A (n.3585G>A) c.1262G>A (p.Ser421Asn) n.1197G>A c.1265G>A (p.Ser422Asn) c.5586G>A c.6044G>A (p.Ser2015Asn) c.704+264G>A (n.704+264G>A) c.3366G>A c.5768G>A (p.Ser1923Asn) c.5480G>A (p.Ser1827Asn) c.3008G>A (p.Ser1003Asn) | |
19 | g.35732593G>C | CA405425385 | KMT2B | n.350G>C c.5978G>C (p.Ser1993Thr) c.3585G>C (n.3585G>C) c.1262G>C (p.Ser421Thr) n.1197G>C c.1265G>C (p.Ser422Thr) c.5586G>C c.6044G>C (p.Ser2015Thr) c.704+264G>C (n.704+264G>C) c.3366G>C c.5768G>C (p.Ser1923Thr) c.5480G>C (p.Ser1827Thr) c.3008G>C (p.Ser1003Thr) | |
19 | g.35732593G>T | CA405425387 | KMT2B | n.350G>T c.5978G>T (p.Ser1993Ile) c.3585G>T (n.3585G>T) c.1262G>T (p.Ser421Ile) n.1197G>T c.1265G>T (p.Ser422Ile) c.5586G>T c.6044G>T (p.Ser2015Ile) c.704+264G>T (n.704+264G>T) c.3366G>T c.5768G>T (p.Ser1923Ile) c.5480G>T (p.Ser1827Ile) c.3008G>T (p.Ser1003Ile) | |
19 | g.35732594C>A | CA405425392 | KMT2B | n.351C>A c.5979C>A (p.Ser1993Arg) c.3586C>A (n.3586C>A) c.1263C>A (p.Ser421Arg) n.1198C>A c.1266C>A (p.Ser422Arg) c.5587C>A c.6045C>A (p.Ser2015Arg) c.704+265C>A (n.704+265C>A) c.3367C>A c.5769C>A (p.Ser1923Arg) c.5481C>A (p.Ser1827Arg) c.3009C>A (p.Ser1003Arg) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35732594C= | CA2333794388 | KMT2B | n.351C= c.5979C= (p.Ser1993=) c.3586C= (n.3586C=) c.1263C= (p.Ser421=) n.1198C= c.1266C= (p.Ser422=) c.5587C= c.6045C= (p.Ser2015=) c.704+265C= (n.704+265C=) c.3367C= c.5769C= (p.Ser1923=) c.5481C= (p.Ser1827=) c.3009C= (p.Ser1003=) | |
19 | g.35732594C>G | CA405425395 | KMT2B | n.351C>G c.5979C>G (p.Ser1993Arg) c.3586C>G (n.3586C>G) c.1263C>G (p.Ser421Arg) n.1198C>G c.1266C>G (p.Ser422Arg) c.5587C>G c.6045C>G (p.Ser2015Arg) c.704+265C>G (n.704+265C>G) c.3367C>G c.5769C>G (p.Ser1923Arg) c.5481C>G (p.Ser1827Arg) c.3009C>G (p.Ser1003Arg) | gnomAD v4 |
19 | g.35732594C>T | CA507308285 | KMT2B | n.351C>T c.5979C>T (p.Ser1993=) c.3586C>T (n.3586C>T) c.1263C>T (p.Ser421=) n.1198C>T c.1266C>T (p.Ser422=) c.5587C>T c.6045C>T (p.Ser2015=) c.704+265C>T (n.704+265C>T) c.3367C>T c.5769C>T (p.Ser1923=) c.5481C>T (p.Ser1827=) c.3009C>T (p.Ser1003=) | |
19 | g.35732595A>C | CA405425404 | KMT2B | n.352A>C c.5980A>C (p.Ser1994Arg) c.3587A>C (n.3587A>C) c.1264A>C (p.Ser422Arg) n.1199A>C c.1267A>C (p.Ser423Arg) c.5588A>C c.6046A>C (p.Ser2016Arg) c.704+266A>C (n.704+266A>C) c.3368A>C c.5770A>C (p.Ser1924Arg) c.5482A>C (p.Ser1828Arg) c.3010A>C (p.Ser1004Arg) | |
19 | g.35732595A>G | CA405425400 | KMT2B | n.352A>G c.5980A>G (p.Ser1994Gly) c.3587A>G (n.3587A>G) c.1264A>G (p.Ser422Gly) n.1199A>G c.1267A>G (p.Ser423Gly) c.5588A>G c.6046A>G (p.Ser2016Gly) c.704+266A>G (n.704+266A>G) c.3368A>G c.5770A>G (p.Ser1924Gly) c.5482A>G (p.Ser1828Gly) c.3010A>G (p.Ser1004Gly) | |
19 | g.35732595A>T | CA405425402 | KMT2B | n.352A>T c.5980A>T (p.Ser1994Cys) c.3587A>T (n.3587A>T) c.1264A>T (p.Ser422Cys) n.1199A>T c.1267A>T (p.Ser423Cys) c.5588A>T c.6046A>T (p.Ser2016Cys) c.704+266A>T (n.704+266A>T) c.3368A>T c.5770A>T (p.Ser1924Cys) c.5482A>T (p.Ser1828Cys) c.3010A>T (p.Ser1004Cys) | |
19 | g.35732596G>A | CA405425409 | KMT2B | n.353G>A c.5981G>A (p.Ser1994Asn) c.3588G>A (n.3588G>A) c.1265G>A (p.Ser422Asn) n.1200G>A c.1268G>A (p.Ser423Asn) c.5589G>A c.6047G>A (p.Ser2016Asn) c.704+267G>A (n.704+267G>A) c.3369G>A c.5771G>A (p.Ser1924Asn) c.5483G>A (p.Ser1828Asn) c.3011G>A (p.Ser1004Asn) | |
19 | g.35732596G>C | CA405425411 | KMT2B | n.353G>C c.5981G>C (p.Ser1994Thr) c.3588G>C (n.3588G>C) c.1265G>C (p.Ser422Thr) n.1200G>C c.1268G>C (p.Ser423Thr) c.5589G>C c.6047G>C (p.Ser2016Thr) c.704+267G>C (n.704+267G>C) c.3369G>C c.5771G>C (p.Ser1924Thr) c.5483G>C (p.Ser1828Thr) c.3011G>C (p.Ser1004Thr) | |
19 | g.35732596G>T | CA405425414 | KMT2B | n.353G>T c.5981G>T (p.Ser1994Ile) c.3588G>T (n.3588G>T) c.1265G>T (p.Ser422Ile) n.1200G>T c.1268G>T (p.Ser423Ile) c.5589G>T c.6047G>T (p.Ser2016Ile) c.704+267G>T (n.704+267G>T) c.3369G>T c.5771G>T (p.Ser1924Ile) c.5483G>T (p.Ser1828Ile) c.3011G>T (p.Ser1004Ile) | |
19 | g.35732597C>A | CA405425417 | KMT2B | n.354C>A c.5982C>A (p.Ser1994Arg) c.3589C>A (n.3589C>A) c.1266C>A (p.Ser422Arg) n.1201C>A c.1269C>A (p.Ser423Arg) c.5590C>A c.6048C>A (p.Ser2016Arg) c.704+268C>A (n.704+268C>A) c.3370C>A c.5772C>A (p.Ser1924Arg) c.5484C>A (p.Ser1828Arg) c.3012C>A (p.Ser1004Arg) | |
19 | g.35732597C>G | CA405425418 | KMT2B | n.354C>G c.5982C>G (p.Ser1994Arg) c.3589C>G (n.3589C>G) c.1266C>G (p.Ser422Arg) n.1201C>G c.1269C>G (p.Ser423Arg) c.5590C>G c.6048C>G (p.Ser2016Arg) c.704+268C>G (n.704+268C>G) c.3370C>G c.5772C>G (p.Ser1924Arg) c.5484C>G (p.Ser1828Arg) c.3012C>G (p.Ser1004Arg) | |
19 | g.35732597C>T | CA507308288 | KMT2B | n.354C>T c.5982C>T (p.Ser1994=) c.3589C>T (n.3589C>T) c.1266C>T (p.Ser422=) n.1201C>T c.1269C>T (p.Ser423=) c.5590C>T c.6048C>T (p.Ser2016=) c.704+268C>T (n.704+268C>T) c.3370C>T c.5772C>T (p.Ser1924=) c.5484C>T (p.Ser1828=) c.3012C>T (p.Ser1004=) | COSMIC |
19 | g.35732598C>A | CA405425421 | KMT2B | n.355C>A c.5983C>A (p.His1995Asn) c.3590C>A (n.3590C>A) c.1267C>A (p.His423Asn) n.1202C>A c.1270C>A (p.His424Asn) c.5591C>A c.6049C>A (p.His2017Asn) c.704+269C>A (n.704+269C>A) c.3371C>A c.5773C>A (p.His1925Asn) c.5485C>A (p.His1829Asn) c.3013C>A (p.His1005Asn) | |
19 | g.35732598C= | CA2333794389 | KMT2B | n.355C= c.5983C= (p.His1995=) c.3590C= (n.3590C=) c.1267C= (p.His423=) n.1202C= c.1270C= (p.His424=) c.5591C= c.6049C= (p.His2017=) c.704+269C= (n.704+269C=) c.3371C= c.5773C= (p.His1925=) c.5485C= (p.His1829=) c.3013C= (p.His1005=) | |
19 | g.35732598C>G | CA405425423 | KMT2B | n.355C>G c.5983C>G (p.His1995Asp) c.3590C>G (n.3590C>G) c.1267C>G (p.His423Asp) n.1202C>G c.1270C>G (p.His424Asp) c.5591C>G c.6049C>G (p.His2017Asp) c.704+269C>G (n.704+269C>G) c.3371C>G c.5773C>G (p.His1925Asp) c.5485C>G (p.His1829Asp) c.3013C>G (p.His1005Asp) | |
19 | g.35732598C>T | CA405425425 | KMT2B | n.355C>T c.5983C>T (p.His1995Tyr) c.3590C>T (n.3590C>T) c.1267C>T (p.His423Tyr) n.1202C>T c.1270C>T (p.His424Tyr) c.5591C>T c.6049C>T (p.His2017Tyr) c.704+269C>T (n.704+269C>T) c.3371C>T c.5773C>T (p.His1925Tyr) c.5485C>T (p.His1829Tyr) c.3013C>T (p.His1005Tyr) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35732599A= | CA2333794390 | KMT2B | n.356A= c.5984A= (p.His1995=) c.3591A= (n.3591A=) c.1268A= (p.His423=) n.1203A= c.1271A= (p.His424=) c.5592A= c.6050A= (p.His2017=) c.704+270A= (n.704+270A=) c.3372A= c.5774A= (p.His1925=) c.5486A= (p.His1829=) c.3014A= (p.His1005=) | |
19 | g.35732599A>C | CA405425428 | KMT2B | n.356A>C c.5984A>C (p.His1995Pro) c.3591A>C (n.3591A>C) c.1268A>C (p.His423Pro) n.1203A>C c.1271A>C (p.His424Pro) c.5592A>C c.6050A>C (p.His2017Pro) c.704+270A>C (n.704+270A>C) c.3372A>C c.5774A>C (p.His1925Pro) c.5486A>C (p.His1829Pro) c.3014A>C (p.His1005Pro) | |
19 | g.35732599A>G | CA405425429 | KMT2B | n.356A>G c.5984A>G (p.His1995Arg) c.3591A>G (n.3591A>G) c.1268A>G (p.His423Arg) n.1203A>G c.1271A>G (p.His424Arg) c.5592A>G c.6050A>G (p.His2017Arg) c.704+270A>G (n.704+270A>G) c.3372A>G c.5774A>G (p.His1925Arg) c.5486A>G (p.His1829Arg) c.3014A>G (p.His1005Arg) | |
19 | g.35732599A>T | CA405425431 | KMT2B | n.356A>T c.5984A>T (p.His1995Leu) c.3591A>T (n.3591A>T) c.1268A>T (p.His423Leu) n.1203A>T c.1271A>T (p.His424Leu) c.5592A>T c.6050A>T (p.His2017Leu) c.704+270A>T (n.704+270A>T) c.3372A>T c.5774A>T (p.His1925Leu) c.5486A>T (p.His1829Leu) c.3014A>T (p.His1005Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732600C>A | CA405425438 | KMT2B | n.357C>A c.5985C>A (p.His1995Gln) c.3592C>A (n.3592C>A) c.1269C>A (p.His423Gln) n.1204C>A c.1272C>A (p.His424Gln) c.5593C>A c.6051C>A (p.His2017Gln) c.704+271C>A (n.704+271C>A) c.3373C>A c.5775C>A (p.His1925Gln) c.5487C>A (p.His1829Gln) c.3015C>A (p.His1005Gln) | |
19 | g.35732600C= | CA2333794391 | KMT2B | n.357C= c.5985C= (p.His1995=) c.3592C= (n.3592C=) c.1269C= (p.His423=) n.1204C= c.1272C= (p.His424=) c.5593C= c.6051C= (p.His2017=) c.704+271C= (n.704+271C=) c.3373C= c.5775C= (p.His1925=) c.5487C= (p.His1829=) c.3015C= (p.His1005=) | |
19 | g.35732600C>G | CA405425436 | KMT2B | n.357C>G c.5985C>G (p.His1995Gln) c.3592C>G (n.3592C>G) c.1269C>G (p.His423Gln) n.1204C>G c.1272C>G (p.His424Gln) c.5593C>G c.6051C>G (p.His2017Gln) c.704+271C>G (n.704+271C>G) c.3373C>G c.5775C>G (p.His1925Gln) c.5487C>G (p.His1829Gln) c.3015C>G (p.His1005Gln) | |
19 | g.35732600C>T | CA9385594 | KMT2B | n.357C>T c.5985C>T (p.His1995=) c.3592C>T (n.3592C>T) c.1269C>T (p.His423=) n.1204C>T c.1272C>T (p.His424=) c.5593C>T c.6051C>T (p.His2017=) c.704+271C>T (n.704+271C>T) c.3373C>T c.5775C>T (p.His1925=) c.5487C>T (p.His1829=) c.3015C>T (p.His1005=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732601G>A | CA405425441 | KMT2B | n.358G>A c.5986G>A (p.Gly1996Arg) c.3593G>A (n.3593G>A) c.1270G>A (p.Gly424Arg) n.1205G>A c.1273G>A (p.Gly425Arg) c.5594G>A c.6052G>A (p.Gly2018Arg) c.704+272G>A (n.704+272G>A) c.3374G>A c.5776G>A (p.Gly1926Arg) c.5488G>A (p.Gly1830Arg) c.3016G>A (p.Gly1006Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732601G>C | CA405425445 | KMT2B | n.358G>C c.5986G>C (p.Gly1996Arg) c.3593G>C (n.3593G>C) c.1270G>C (p.Gly424Arg) n.1205G>C c.1273G>C (p.Gly425Arg) c.5594G>C c.6052G>C (p.Gly2018Arg) c.704+272G>C (n.704+272G>C) c.3374G>C c.5776G>C (p.Gly1926Arg) c.5488G>C (p.Gly1830Arg) c.3016G>C (p.Gly1006Arg) | |
19 | g.35732601G= | CA2333794392 | KMT2B | n.358G= c.5986G= (p.Gly1996=) c.3593G= (n.3593G=) c.1270G= (p.Gly424=) n.1205G= c.1273G= (p.Gly425=) c.5594G= c.6052G= (p.Gly2018=) c.704+272G= (n.704+272G=) c.3374G= c.5776G= (p.Gly1926=) c.5488G= (p.Gly1830=) c.3016G= (p.Gly1006=) | |
19 | g.35732601G>T | CA405425443 | KMT2B | n.358G>T c.5986G>T (p.Gly1996Trp) c.3593G>T (n.3593G>T) c.1270G>T (p.Gly424Trp) n.1205G>T c.1273G>T (p.Gly425Trp) c.5594G>T c.6052G>T (p.Gly2018Trp) c.704+272G>T (n.704+272G>T) c.3374G>T c.5776G>T (p.Gly1926Trp) c.5488G>T (p.Gly1830Trp) c.3016G>T (p.Gly1006Trp) | gnomAD v4 |
19 | g.35732605dup | CA2814254937 | KMT2B | n.362dup c.5990dup (p.Asp2000GlyfsTer?) c.3597dup (n.3597dup) c.1274dup (p.Asp428GlyfsTer?) n.1209dup c.1277dup (p.Asp429GlyfsTer?) c.5598dup c.6056dup (p.Asp2022GlyfsTer?) c.704+276dup (n.704+276dup) c.3378dup c.5780dup (p.Asp1930GlyfsTer?) c.5492dup (p.Asp1834GlyfsTer?) c.3020dup (p.Asp1010GlyfsTer?) | |
19 | g.35732605del | CA2584575158 | KMT2B | n.362del c.5990del (p.Gly1997AlafsTer21) c.3597del (n.3597del) c.1274del (p.Gly425AlafsTer21) n.1209del c.1277del (p.Gly426AlafsTer21) c.5598del c.6056del (p.Gly2019AlafsTer21) c.704+276del (n.704+276del) c.3378del c.5780del (p.Gly1927AlafsTer21) c.5492del (p.Gly1831AlafsTer21) c.3020del (p.Gly1007AlafsTer21) | gnomAD v4 |
19 | g.35732602G>A | CA405425448 | KMT2B | n.359G>A c.5987G>A (p.Gly1996Glu) c.3594G>A (n.3594G>A) c.1271G>A (p.Gly424Glu) n.1206G>A c.1274G>A (p.Gly425Glu) c.5595G>A c.6053G>A (p.Gly2018Glu) c.704+273G>A (n.704+273G>A) c.3375G>A c.5777G>A (p.Gly1926Glu) c.5489G>A (p.Gly1830Glu) c.3017G>A (p.Gly1006Glu) | dbSNP gnomAD v2 |
19 | g.35732602G>C | CA405425450 | KMT2B | n.359G>C c.5987G>C (p.Gly1996Ala) c.3594G>C (n.3594G>C) c.1271G>C (p.Gly424Ala) n.1206G>C c.1274G>C (p.Gly425Ala) c.5595G>C c.6053G>C (p.Gly2018Ala) c.704+273G>C (n.704+273G>C) c.3375G>C c.5777G>C (p.Gly1926Ala) c.5489G>C (p.Gly1830Ala) c.3017G>C (p.Gly1006Ala) | |
19 | g.35732602G= | CA2333794393 | KMT2B | n.359G= c.5987G= (p.Gly1996=) c.3594G= (n.3594G=) c.1271G= (p.Gly424=) n.1206G= c.1274G= (p.Gly425=) c.5595G= c.6053G= (p.Gly2018=) c.704+273G= (n.704+273G=) c.3375G= c.5777G= (p.Gly1926=) c.5489G= (p.Gly1830=) c.3017G= (p.Gly1006=) | |
19 | g.35732602G>T | CA405425452 | KMT2B | n.359G>T c.5987G>T (p.Gly1996Val) c.3594G>T (n.3594G>T) c.1271G>T (p.Gly424Val) n.1206G>T c.1274G>T (p.Gly425Val) c.5595G>T c.6053G>T (p.Gly2018Val) c.704+273G>T (n.704+273G>T) c.3375G>T c.5777G>T (p.Gly1926Val) c.5489G>T (p.Gly1830Val) c.3017G>T (p.Gly1006Val) | |
19 | g.35732603G>A | CA507308298 | KMT2B | n.360G>A c.5988G>A (p.Gly1996=) c.3595G>A (n.3595G>A) c.1272G>A (p.Gly424=) n.1207G>A c.1275G>A (p.Gly425=) c.5596G>A c.6054G>A (p.Gly2018=) c.704+274G>A (n.704+274G>A) c.3376G>A c.5778G>A (p.Gly1926=) c.5490G>A (p.Gly1830=) c.3018G>A (p.Gly1006=) | |
19 | g.35732603G>C | CA507308300 | KMT2B | n.360G>C c.5988G>C (p.Gly1996=) c.3595G>C (n.3595G>C) c.1272G>C (p.Gly424=) n.1207G>C c.1275G>C (p.Gly425=) c.5596G>C c.6054G>C (p.Gly2018=) c.704+274G>C (n.704+274G>C) c.3376G>C c.5778G>C (p.Gly1926=) c.5490G>C (p.Gly1830=) c.3018G>C (p.Gly1006=) | |
19 | g.35732603G>T | CA507308301 | KMT2B | n.360G>T c.5988G>T (p.Gly1996=) c.3595G>T (n.3595G>T) c.1272G>T (p.Gly424=) n.1207G>T c.1275G>T (p.Gly425=) c.5596G>T c.6054G>T (p.Gly2018=) c.704+274G>T (n.704+274G>T) c.3376G>T c.5778G>T (p.Gly1926=) c.5490G>T (p.Gly1830=) c.3018G>T (p.Gly1006=) | |
19 | g.35732604G>A | CA405425455 | KMT2B | n.361G>A c.5989G>A (p.Gly1997Ser) c.3596G>A (n.3596G>A) c.1273G>A (p.Gly425Ser) n.1208G>A c.1276G>A (p.Gly426Ser) c.5597G>A c.6055G>A (p.Gly2019Ser) c.704+275G>A (n.704+275G>A) c.3377G>A c.5779G>A (p.Gly1927Ser) c.5491G>A (p.Gly1831Ser) c.3019G>A (p.Gly1007Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.35732604G>C | CA405425457 | KMT2B | n.361G>C c.5989G>C (p.Gly1997Arg) c.3596G>C (n.3596G>C) c.1273G>C (p.Gly425Arg) n.1208G>C c.1276G>C (p.Gly426Arg) c.5597G>C c.6055G>C (p.Gly2019Arg) c.704+275G>C (n.704+275G>C) c.3377G>C c.5779G>C (p.Gly1927Arg) c.5491G>C (p.Gly1831Arg) c.3019G>C (p.Gly1007Arg) | |
19 | g.35732604G= | CA2333794394 | KMT2B | n.361G= c.5989G= (p.Gly1997=) c.3596G= (n.3596G=) c.1273G= (p.Gly425=) n.1208G= c.1276G= (p.Gly426=) c.5597G= c.6055G= (p.Gly2019=) c.704+275G= (n.704+275G=) c.3377G= c.5779G= (p.Gly1927=) c.5491G= (p.Gly1831=) c.3019G= (p.Gly1007=) | |
19 | g.35732604G>T | CA405425458 | KMT2B | n.361G>T c.5989G>T (p.Gly1997Cys) c.3596G>T (n.3596G>T) c.1273G>T (p.Gly425Cys) n.1208G>T c.1276G>T (p.Gly426Cys) c.5597G>T c.6055G>T (p.Gly2019Cys) c.704+275G>T (n.704+275G>T) c.3377G>T c.5779G>T (p.Gly1927Cys) c.5491G>T (p.Gly1831Cys) c.3019G>T (p.Gly1007Cys) | |
19 | g.35732605G>A | CA9385595 | KMT2B | n.362G>A c.5990G>A (p.Gly1997Asp) c.3597G>A (n.3597G>A) c.1274G>A (p.Gly425Asp) n.1209G>A c.1277G>A (p.Gly426Asp) c.5598G>A c.6056G>A (p.Gly2019Asp) c.704+276G>A (n.704+276G>A) c.3378G>A c.5780G>A (p.Gly1927Asp) c.5492G>A (p.Gly1831Asp) c.3020G>A (p.Gly1007Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732605G>C | CA9385596 | KMT2B | n.362G>C c.5990G>C (p.Gly1997Ala) c.3597G>C (n.3597G>C) c.1274G>C (p.Gly425Ala) n.1209G>C c.1277G>C (p.Gly426Ala) c.5598G>C c.6056G>C (p.Gly2019Ala) c.704+276G>C (n.704+276G>C) c.3378G>C c.5780G>C (p.Gly1927Ala) c.5492G>C (p.Gly1831Ala) c.3020G>C (p.Gly1007Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732605G= | CA2333794395 | KMT2B | n.362G= c.5990G= (p.Gly1997=) c.3597G= (n.3597G=) c.1274G= (p.Gly425=) n.1209G= c.1277G= (p.Gly426=) c.5598G= c.6056G= (p.Gly2019=) c.704+276G= (n.704+276G=) c.3378G= c.5780G= (p.Gly1927=) c.5492G= (p.Gly1831=) c.3020G= (p.Gly1007=) | |
19 | g.35732605G>T | CA405425463 | KMT2B | n.362G>T c.5990G>T (p.Gly1997Val) c.3597G>T (n.3597G>T) c.1274G>T (p.Gly425Val) n.1209G>T c.1277G>T (p.Gly426Val) c.5598G>T c.6056G>T (p.Gly2019Val) c.704+276G>T (n.704+276G>T) c.3378G>T c.5780G>T (p.Gly1927Val) c.5492G>T (p.Gly1831Val) c.3020G>T (p.Gly1007Val) | |
19 | g.35732606C>A | CA507308316 | KMT2B | n.363C>A c.5991C>A (p.Gly1997=) c.3598C>A (n.3598C>A) c.1275C>A (p.Gly425=) n.1210C>A c.1278C>A (p.Gly426=) c.5599C>A c.6057C>A (p.Gly2019=) c.704+277C>A (n.704+277C>A) c.3379C>A c.5781C>A (p.Gly1927=) c.5493C>A (p.Gly1831=) c.3021C>A (p.Gly1007=) | |
19 | g.35732606C= | CA2333794396 | KMT2B | n.363C= c.5991C= (p.Gly1997=) c.3598C= (n.3598C=) c.1275C= (p.Gly425=) n.1210C= c.1278C= (p.Gly426=) c.5599C= c.6057C= (p.Gly2019=) c.704+277C= (n.704+277C=) c.3379C= c.5781C= (p.Gly1927=) c.5493C= (p.Gly1831=) c.3021C= (p.Gly1007=) | |
19 | g.35732606C>G | CA507308317 | KMT2B | n.363C>G c.5991C>G (p.Gly1997=) c.3598C>G (n.3598C>G) c.1275C>G (p.Gly425=) n.1210C>G c.1278C>G (p.Gly426=) c.5599C>G c.6057C>G (p.Gly2019=) c.704+277C>G (n.704+277C>G) c.3379C>G c.5781C>G (p.Gly1927=) c.5493C>G (p.Gly1831=) c.3021C>G (p.Gly1007=) | dbSNP |
19 | g.35732606C>T | CA507308318 | KMT2B | n.363C>T c.5991C>T (p.Gly1997=) c.3598C>T (n.3598C>T) c.1275C>T (p.Gly425=) n.1210C>T c.1278C>T (p.Gly426=) c.5599C>T c.6057C>T (p.Gly2019=) c.704+277C>T (n.704+277C>T) c.3379C>T c.5781C>T (p.Gly1927=) c.5493C>T (p.Gly1831=) c.3021C>T (p.Gly1007=) | |
19 | g.35732607C>A | CA405425466 | KMT2B | n.364C>A c.5992C>A (p.Pro1998Thr) c.3599C>A (n.3599C>A) c.1276C>A (p.Pro426Thr) n.1211C>A c.1279C>A (p.Pro427Thr) c.5600C>A c.6058C>A (p.Pro2020Thr) c.704+278C>A (n.704+278C>A) c.3380C>A c.5782C>A (p.Pro1928Thr) c.5494C>A (p.Pro1832Thr) c.3022C>A (p.Pro1008Thr) | |
19 | g.35732607C>G | CA405425468 | KMT2B | n.364C>G c.5992C>G (p.Pro1998Ala) c.3599C>G (n.3599C>G) c.1276C>G (p.Pro426Ala) n.1211C>G c.1279C>G (p.Pro427Ala) c.5600C>G c.6058C>G (p.Pro2020Ala) c.704+278C>G (n.704+278C>G) c.3380C>G c.5782C>G (p.Pro1928Ala) c.5494C>G (p.Pro1832Ala) c.3022C>G (p.Pro1008Ala) | gnomAD v4 |
19 | g.35732607C>T | CA405425470 | KMT2B | n.364C>T c.5992C>T (p.Pro1998Ser) c.3599C>T (n.3599C>T) c.1276C>T (p.Pro426Ser) n.1211C>T c.1279C>T (p.Pro427Ser) c.5600C>T c.6058C>T (p.Pro2020Ser) c.704+278C>T (n.704+278C>T) c.3380C>T c.5782C>T (p.Pro1928Ser) c.5494C>T (p.Pro1832Ser) c.3022C>T (p.Pro1008Ser) | |
19 | g.35732608C>A | CA405425476 | KMT2B | n.365C>A c.5993C>A (p.Pro1998Gln) c.3600C>A (n.3600C>A) c.1277C>A (p.Pro426Gln) n.1212C>A c.1280C>A (p.Pro427Gln) c.5601C>A c.6059C>A (p.Pro2020Gln) c.704+279C>A (n.704+279C>A) c.3381C>A c.5783C>A (p.Pro1928Gln) c.5495C>A (p.Pro1832Gln) c.3023C>A (p.Pro1008Gln) | |
19 | g.35732608C= | CA2333794397 | KMT2B | n.365C= c.5993C= (p.Pro1998=) c.3600C= (n.3600C=) c.1277C= (p.Pro426=) n.1212C= c.1280C= (p.Pro427=) c.5601C= c.6059C= (p.Pro2020=) c.704+279C= (n.704+279C=) c.3381C= c.5783C= (p.Pro1928=) c.5495C= (p.Pro1832=) c.3023C= (p.Pro1008=) | |
19 | g.35732608C>G | CA405425473 | KMT2B | n.365C>G c.5993C>G (p.Pro1998Arg) c.3600C>G (n.3600C>G) c.1277C>G (p.Pro426Arg) n.1212C>G c.1280C>G (p.Pro427Arg) c.5601C>G c.6059C>G (p.Pro2020Arg) c.704+279C>G (n.704+279C>G) c.3381C>G c.5783C>G (p.Pro1928Arg) c.5495C>G (p.Pro1832Arg) c.3023C>G (p.Pro1008Arg) | |
19 | g.35732608C>T | CA307796217 | KMT2B | n.365C>T c.5993C>T (p.Pro1998Leu) c.3600C>T (n.3600C>T) c.1277C>T (p.Pro426Leu) n.1212C>T c.1280C>T (p.Pro427Leu) c.5601C>T c.6059C>T (p.Pro2020Leu) c.704+279C>T (n.704+279C>T) c.3381C>T c.5783C>T (p.Pro1928Leu) c.5495C>T (p.Pro1832Leu) c.3023C>T (p.Pro1008Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732609G>A | CA9385597 | KMT2B | n.366G>A c.5994G>A (p.Pro1998=) c.3601G>A (n.3601G>A) c.1278G>A (p.Pro426=) n.1213G>A c.1281G>A (p.Pro427=) c.5602G>A c.6060G>A (p.Pro2020=) c.704+280G>A (n.704+280G>A) c.3382G>A c.5784G>A (p.Pro1928=) c.5496G>A (p.Pro1832=) c.3024G>A (p.Pro1008=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732609G>C | CA507308327 | KMT2B | n.366G>C c.5994G>C (p.Pro1998=) c.3601G>C (n.3601G>C) c.1278G>C (p.Pro426=) n.1213G>C c.1281G>C (p.Pro427=) c.5602G>C c.6060G>C (p.Pro2020=) c.704+280G>C (n.704+280G>C) c.3382G>C c.5784G>C (p.Pro1928=) c.5496G>C (p.Pro1832=) c.3024G>C (p.Pro1008=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35732609G= | CA2333794398 | KMT2B | n.366G= c.5994G= (p.Pro1998=) c.3601G= (n.3601G=) c.1278G= (p.Pro426=) n.1213G= c.1281G= (p.Pro427=) c.5602G= c.6060G= (p.Pro2020=) c.704+280G= (n.704+280G=) c.3382G= c.5784G= (p.Pro1928=) c.5496G= (p.Pro1832=) c.3024G= (p.Pro1008=) | |
19 | g.35732609G>T | CA507308329 | KMT2B | n.366G>T c.5994G>T (p.Pro1998=) c.3601G>T (n.3601G>T) c.1278G>T (p.Pro426=) n.1213G>T c.1281G>T (p.Pro427=) c.5602G>T c.6060G>T (p.Pro2020=) c.704+280G>T (n.704+280G>T) c.3382G>T c.5784G>T (p.Pro1928=) c.5496G>T (p.Pro1832=) c.3024G>T (p.Pro1008=) | |
19 | g.35732610G>A | CA405425481 | KMT2B | n.367G>A c.5995G>A (p.Gly1999Arg) c.3602G>A (n.3602G>A) c.1279G>A (p.Gly427Arg) n.1214G>A c.1282G>A (p.Gly428Arg) c.5603G>A c.6061G>A (p.Gly2021Arg) c.704+281G>A (n.704+281G>A) c.3383G>A c.5785G>A (p.Gly1929Arg) c.5497G>A (p.Gly1833Arg) c.3025G>A (p.Gly1009Arg) | |
19 | g.35732610G>C | CA405425483 | KMT2B | n.367G>C c.5995G>C (p.Gly1999Arg) c.3602G>C (n.3602G>C) c.1279G>C (p.Gly427Arg) n.1214G>C c.1282G>C (p.Gly428Arg) c.5603G>C c.6061G>C (p.Gly2021Arg) c.704+281G>C (n.704+281G>C) c.3383G>C c.5785G>C (p.Gly1929Arg) c.5497G>C (p.Gly1833Arg) c.3025G>C (p.Gly1009Arg) | |
19 | g.35732610G>T | CA405425485 | KMT2B | n.367G>T c.5995G>T (p.Gly1999Trp) c.3602G>T (n.3602G>T) c.1279G>T (p.Gly427Trp) n.1214G>T c.1282G>T (p.Gly428Trp) c.5603G>T c.6061G>T (p.Gly2021Trp) c.704+281G>T (n.704+281G>T) c.3383G>T c.5785G>T (p.Gly1929Trp) c.5497G>T (p.Gly1833Trp) c.3025G>T (p.Gly1009Trp) | |
19 | g.35732611G>A | CA307796221 | KMT2B | n.368G>A c.5996G>A (p.Gly1999Glu) c.3603G>A (n.3603G>A) c.1280G>A (p.Gly427Glu) n.1215G>A c.1283G>A (p.Gly428Glu) c.5604G>A c.6062G>A (p.Gly2021Glu) c.704+282G>A (n.704+282G>A) c.3384G>A c.5786G>A (p.Gly1929Glu) c.5498G>A (p.Gly1833Glu) c.3026G>A (p.Gly1009Glu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732611G>C | CA405425489 | KMT2B | n.368G>C c.5996G>C (p.Gly1999Ala) c.3603G>C (n.3603G>C) c.1280G>C (p.Gly427Ala) n.1215G>C c.1283G>C (p.Gly428Ala) c.5604G>C c.6062G>C (p.Gly2021Ala) c.704+282G>C (n.704+282G>C) c.3384G>C c.5786G>C (p.Gly1929Ala) c.5498G>C (p.Gly1833Ala) c.3026G>C (p.Gly1009Ala) | |
19 | g.35732611G= | CA2333794399 | KMT2B | n.368G= c.5996G= (p.Gly1999=) c.3603G= (n.3603G=) c.1280G= (p.Gly427=) n.1215G= c.1283G= (p.Gly428=) c.5604G= c.6062G= (p.Gly2021=) c.704+282G= (n.704+282G=) c.3384G= c.5786G= (p.Gly1929=) c.5498G= (p.Gly1833=) c.3026G= (p.Gly1009=) | |
19 | g.35732611G>T | CA405425491 | KMT2B | n.368G>T c.5996G>T (p.Gly1999Val) c.3603G>T (n.3603G>T) c.1280G>T (p.Gly427Val) n.1215G>T c.1283G>T (p.Gly428Val) c.5604G>T c.6062G>T (p.Gly2021Val) c.704+282G>T (n.704+282G>T) c.3384G>T c.5786G>T (p.Gly1929Val) c.5498G>T (p.Gly1833Val) c.3026G>T (p.Gly1009Val) | |
19 | g.35732612G>A | CA9385598 | KMT2B | n.369G>A c.5997G>A (p.Gly1999=) c.3604G>A (n.3604G>A) c.1281G>A (p.Gly427=) n.1216G>A c.1284G>A (p.Gly428=) c.5605G>A c.6063G>A (p.Gly2021=) c.704+283G>A (n.704+283G>A) c.3385G>A c.5787G>A (p.Gly1929=) c.5499G>A (p.Gly1833=) c.3027G>A (p.Gly1009=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35732612G>C | CA507308336 | KMT2B | n.369G>C c.5997G>C (p.Gly1999=) c.3604G>C (n.3604G>C) c.1281G>C (p.Gly427=) n.1216G>C c.1284G>C (p.Gly428=) c.5605G>C c.6063G>C (p.Gly2021=) c.704+283G>C (n.704+283G>C) c.3385G>C c.5787G>C (p.Gly1929=) c.5499G>C (p.Gly1833=) c.3027G>C (p.Gly1009=) | |
19 | g.35732612G= | CA2333794400 | KMT2B | n.369G= c.5997G= (p.Gly1999=) c.3604G= (n.3604G=) c.1281G= (p.Gly427=) n.1216G= c.1284G= (p.Gly428=) c.5605G= c.6063G= (p.Gly2021=) c.704+283G= (n.704+283G=) c.3385G= c.5787G= (p.Gly1929=) c.5499G= (p.Gly1833=) c.3027G= (p.Gly1009=) | |
19 | g.35732612G>T | CA507308337 | KMT2B | n.369G>T c.5997G>T (p.Gly1999=) c.3604G>T (n.3604G>T) c.1281G>T (p.Gly427=) n.1216G>T c.1284G>T (p.Gly428=) c.5605G>T c.6063G>T (p.Gly2021=) c.704+283G>T (n.704+283G>T) c.3385G>T c.5787G>T (p.Gly1929=) c.5499G>T (p.Gly1833=) c.3027G>T (p.Gly1009=) | gnomAD v4 |
19 | g.35732613G>A | CA405425495 | KMT2B | n.370G>A c.5998G>A (p.Asp2000Asn) c.3605G>A (n.3605G>A) c.1282G>A (p.Asp428Asn) n.1217G>A c.1285G>A (p.Asp429Asn) c.5606G>A c.6064G>A (p.Asp2022Asn) c.704+284G>A (n.704+284G>A) c.3386G>A c.5788G>A (p.Asp1930Asn) c.5500G>A (p.Asp1834Asn) c.3028G>A (p.Asp1010Asn) | gnomAD v4 |
19 | g.35732613G>C | CA405425496 | KMT2B | n.370G>C c.5998G>C (p.Asp2000His) c.3605G>C (n.3605G>C) c.1282G>C (p.Asp428His) n.1217G>C c.1285G>C (p.Asp429His) c.5606G>C c.6064G>C (p.Asp2022His) c.704+284G>C (n.704+284G>C) c.3386G>C c.5788G>C (p.Asp1930His) c.5500G>C (p.Asp1834His) c.3028G>C (p.Asp1010His) | gnomAD v4 |
19 | g.35732613G= | CA2333794401 | KMT2B | n.370G= c.5998G= (p.Asp2000=) c.3605G= (n.3605G=) c.1282G= (p.Asp428=) n.1217G= c.1285G= (p.Asp429=) c.5606G= c.6064G= (p.Asp2022=) c.704+284G= (n.704+284G=) c.3386G= c.5788G= (p.Asp1930=) c.5500G= (p.Asp1834=) c.3028G= (p.Asp1010=) | |
19 | g.35732613G>T | CA405425498 | KMT2B | n.370G>T c.5998G>T (p.Asp2000Tyr) c.3605G>T (n.3605G>T) c.1282G>T (p.Asp428Tyr) n.1217G>T c.1285G>T (p.Asp429Tyr) c.5606G>T c.6064G>T (p.Asp2022Tyr) c.704+284G>T (n.704+284G>T) c.3386G>T c.5788G>T (p.Asp1930Tyr) c.5500G>T (p.Asp1834Tyr) c.3028G>T (p.Asp1010Tyr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732614A>C | CA405425504 | KMT2B | n.371A>C c.5999A>C (p.Asp2000Ala) c.3606A>C (n.3606A>C) c.1283A>C (p.Asp428Ala) n.1218A>C c.1286A>C (p.Asp429Ala) c.5607A>C c.6065A>C (p.Asp2022Ala) c.704+285A>C (n.704+285A>C) c.3387A>C c.5789A>C (p.Asp1930Ala) c.5501A>C (p.Asp1834Ala) c.3029A>C (p.Asp1010Ala) | |
19 | g.35732614A>G | CA405425502 | KMT2B | n.371A>G c.5999A>G (p.Asp2000Gly) c.3606A>G (n.3606A>G) c.1283A>G (p.Asp428Gly) n.1218A>G c.1286A>G (p.Asp429Gly) c.5607A>G c.6065A>G (p.Asp2022Gly) c.704+285A>G (n.704+285A>G) c.3387A>G c.5789A>G (p.Asp1930Gly) c.5501A>G (p.Asp1834Gly) c.3029A>G (p.Asp1010Gly) | |
19 | g.35732614A>T | CA405425501 | KMT2B | n.371A>T c.5999A>T (p.Asp2000Val) c.3606A>T (n.3606A>T) c.1283A>T (p.Asp428Val) n.1218A>T c.1286A>T (p.Asp429Val) c.5607A>T c.6065A>T (p.Asp2022Val) c.704+285A>T (n.704+285A>T) c.3387A>T c.5789A>T (p.Asp1930Val) c.5501A>T (p.Asp1834Val) c.3029A>T (p.Asp1010Val) | |
19 | g.35732615C>A | CA405425507 | KMT2B | n.372C>A c.6000C>A (p.Asp2000Glu) c.3607C>A (n.3607C>A) c.1284C>A (p.Asp428Glu) n.1219C>A c.1287C>A (p.Asp429Glu) c.5608C>A c.6066C>A (p.Asp2022Glu) c.704+286C>A (n.704+286C>A) c.3388C>A c.5790C>A (p.Asp1930Glu) c.5502C>A (p.Asp1834Glu) c.3030C>A (p.Asp1010Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732615C= | CA2333794402 | KMT2B | n.372C= c.6000C= (p.Asp2000=) c.3607C= (n.3607C=) c.1284C= (p.Asp428=) n.1219C= c.1287C= (p.Asp429=) c.5608C= c.6066C= (p.Asp2022=) c.704+286C= (n.704+286C=) c.3388C= c.5790C= (p.Asp1930=) c.5502C= (p.Asp1834=) c.3030C= (p.Asp1010=) | |
19 | g.35732615C>G | CA405425508 | KMT2B | n.372C>G c.6000C>G (p.Asp2000Glu) c.3607C>G (n.3607C>G) c.1284C>G (p.Asp428Glu) n.1219C>G c.1287C>G (p.Asp429Glu) c.5608C>G c.6066C>G (p.Asp2022Glu) c.704+286C>G (n.704+286C>G) c.3388C>G c.5790C>G (p.Asp1930Glu) c.5502C>G (p.Asp1834Glu) c.3030C>G (p.Asp1010Glu) | |
19 | g.35732615C>T | CA507308341 | KMT2B | n.372C>T c.6000C>T (p.Asp2000=) c.3607C>T (n.3607C>T) c.1284C>T (p.Asp428=) n.1219C>T c.1287C>T (p.Asp429=) c.5608C>T c.6066C>T (p.Asp2022=) c.704+286C>T (n.704+286C>T) c.3388C>T c.5790C>T (p.Asp1930=) c.5502C>T (p.Asp1834=) c.3030C>T (p.Asp1010=) | dbSNP gnomAD v2 |
19 | g.35732616A>C | CA405425511 | KMT2B | n.373A>C c.6001A>C (p.Ser2001Arg) c.3608A>C (n.3608A>C) c.1285A>C (p.Ser429Arg) n.1220A>C c.1288A>C (p.Ser430Arg) c.5609A>C c.6067A>C (p.Ser2023Arg) c.704+287A>C (n.704+287A>C) c.3389A>C c.5791A>C (p.Ser1931Arg) c.5503A>C (p.Ser1835Arg) c.3031A>C (p.Ser1011Arg) | |
19 | g.35732616A>G | CA405425513 | KMT2B | n.373A>G c.6001A>G (p.Ser2001Gly) c.3608A>G (n.3608A>G) c.1285A>G (p.Ser429Gly) n.1220A>G c.1288A>G (p.Ser430Gly) c.5609A>G c.6067A>G (p.Ser2023Gly) c.704+287A>G (n.704+287A>G) c.3389A>G c.5791A>G (p.Ser1931Gly) c.5503A>G (p.Ser1835Gly) c.3031A>G (p.Ser1011Gly) | |
19 | g.35732616A>T | CA405425515 | KMT2B | n.373A>T c.6001A>T (p.Ser2001Cys) c.3608A>T (n.3608A>T) c.1285A>T (p.Ser429Cys) n.1220A>T c.1288A>T (p.Ser430Cys) c.5609A>T c.6067A>T (p.Ser2023Cys) c.704+287A>T (n.704+287A>T) c.3389A>T c.5791A>T (p.Ser1931Cys) c.5503A>T (p.Ser1835Cys) c.3031A>T (p.Ser1011Cys) | gnomAD v4 |
19 | g.35732617G>A | CA405425518 | KMT2B | n.374G>A c.6002G>A (p.Ser2001Asn) c.3609G>A (n.3609G>A) c.1286G>A (p.Ser429Asn) n.1221G>A c.1289G>A (p.Ser430Asn) c.5610G>A c.6068G>A (p.Ser2023Asn) c.704+288G>A (n.704+288G>A) c.3390G>A c.5792G>A (p.Ser1931Asn) c.5504G>A (p.Ser1835Asn) c.3032G>A (p.Ser1011Asn) | COSMIC |
19 | g.35732617G>C | CA405425520 | KMT2B | n.374G>C c.6002G>C (p.Ser2001Thr) c.3609G>C (n.3609G>C) c.1286G>C (p.Ser429Thr) n.1221G>C c.1289G>C (p.Ser430Thr) c.5610G>C c.6068G>C (p.Ser2023Thr) c.704+288G>C (n.704+288G>C) c.3390G>C c.5792G>C (p.Ser1931Thr) c.5504G>C (p.Ser1835Thr) c.3032G>C (p.Ser1011Thr) | |
19 | g.35732617G>T | CA405425522 | KMT2B | n.374G>T c.6002G>T (p.Ser2001Ile) c.3609G>T (n.3609G>T) c.1286G>T (p.Ser429Ile) n.1221G>T c.1289G>T (p.Ser430Ile) c.5610G>T c.6068G>T (p.Ser2023Ile) c.704+288G>T (n.704+288G>T) c.3390G>T c.5792G>T (p.Ser1931Ile) c.5504G>T (p.Ser1835Ile) c.3032G>T (p.Ser1011Ile) | |
19 | g.35732617_35732620delinsGCTC | CA2333794403 | KMT2B | n.374_377delinsGCTC c.6002_6005delinsGCTC (p.Ser2001=) c.3609_3612delinsGCTC (n.3609_3612delinsGCTC) c.1286_1289delinsGCTC (p.Ser429=) n.1221_1224delinsGCTC c.1289_1292delinsGCTC (p.Ser430=) c.5610_5613delinsGCTC c.6068_6071delinsGCTC (p.Ser2023=) c.704+288_704+291delinsGCTC (n.704+288_704+291delinsGCTC) c.3390_3393delinsGCTC c.5792_5795delinsGCTC (p.Ser1931=) c.5504_5507delinsGCTC (p.Ser1835=) c.3032_3035delinsGCTC (p.Ser1011=) | |
19 | g.35732618C>A | CA405425526 | KMT2B | n.375C>A c.6003C>A (p.Ser2001Arg) c.3610C>A (n.3610C>A) c.1287C>A (p.Ser429Arg) n.1222C>A c.1290C>A (p.Ser430Arg) c.5611C>A c.6069C>A (p.Ser2023Arg) c.704+289C>A (n.704+289C>A) c.3391C>A c.5793C>A (p.Ser1931Arg) c.5505C>A (p.Ser1835Arg) c.3033C>A (p.Ser1011Arg) | |
19 | g.35732618C>G | CA405425527 | KMT2B | n.375C>G c.6003C>G (p.Ser2001Arg) c.3610C>G (n.3610C>G) c.1287C>G (p.Ser429Arg) n.1222C>G c.1290C>G (p.Ser430Arg) c.5611C>G c.6069C>G (p.Ser2023Arg) c.704+289C>G (n.704+289C>G) c.3391C>G c.5793C>G (p.Ser1931Arg) c.5505C>G (p.Ser1835Arg) c.3033C>G (p.Ser1011Arg) | |
19 | g.35732618C>T | CA507308345 | KMT2B | n.375C>T c.6003C>T (p.Ser2001=) c.3610C>T (n.3610C>T) c.1287C>T (p.Ser429=) n.1222C>T c.1290C>T (p.Ser430=) c.5611C>T c.6069C>T (p.Ser2023=) c.704+289C>T (n.704+289C>T) c.3391C>T c.5793C>T (p.Ser1931=) c.5505C>T (p.Ser1835=) c.3033C>T (p.Ser1011=) | |
19 | g.35732619_35732621del | CA633059479 | KMT2B | n.376_378del c.6004_6006del (p.Ser2002del) c.3611_3613del (n.3611_3613del) c.1288_1290del (p.Ser430del) n.1223_1225del c.1291_1293del (p.Ser431del) c.5612_5614del c.6070_6072del (p.Ser2024del) c.704+290_704+292del (n.704+290_704+292del) c.3392_3394del c.5794_5796del (p.Ser1932del) c.5506_5508del (p.Ser1836del) c.3034_3036del (p.Ser1012del) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732619T>A | CA405425530 | KMT2B | n.376T>A c.6004T>A (p.Ser2002Thr) c.3611T>A (n.3611T>A) c.1288T>A (p.Ser430Thr) n.1223T>A c.1291T>A (p.Ser431Thr) c.5612T>A c.6070T>A (p.Ser2024Thr) c.704+290T>A (n.704+290T>A) c.3392T>A c.5794T>A (p.Ser1932Thr) c.5506T>A (p.Ser1836Thr) c.3034T>A (p.Ser1012Thr) | |
19 | g.35732619T>C | CA405425532 | KMT2B | n.376T>C c.6004T>C (p.Ser2002Pro) c.3611T>C (n.3611T>C) c.1288T>C (p.Ser430Pro) n.1223T>C c.1291T>C (p.Ser431Pro) c.5612T>C c.6070T>C (p.Ser2024Pro) c.704+290T>C (n.704+290T>C) c.3392T>C c.5794T>C (p.Ser1932Pro) c.5506T>C (p.Ser1836Pro) c.3034T>C (p.Ser1012Pro) | |
19 | g.35732619T>G | CA405425534 | KMT2B | n.376T>G c.6004T>G (p.Ser2002Ala) c.3611T>G (n.3611T>G) c.1288T>G (p.Ser430Ala) n.1223T>G c.1291T>G (p.Ser431Ala) c.5612T>G c.6070T>G (p.Ser2024Ala) c.704+290T>G (n.704+290T>G) c.3392T>G c.5794T>G (p.Ser1932Ala) c.5506T>G (p.Ser1836Ala) c.3034T>G (p.Ser1012Ala) | |
19 | g.35732620C>A | CA405425540 | KMT2B | n.377C>A c.6005C>A (p.Ser2002Tyr) c.3612C>A (n.3612C>A) c.1289C>A (p.Ser430Tyr) n.1224C>A c.1292C>A (p.Ser431Tyr) c.5613C>A c.6071C>A (p.Ser2024Tyr) c.704+291C>A (n.704+291C>A) c.3393C>A c.5795C>A (p.Ser1932Tyr) c.5507C>A (p.Ser1836Tyr) c.3035C>A (p.Ser1012Tyr) | |
19 | g.35732620C= | CA2333794404 | KMT2B | n.377C= c.6005C= (p.Ser2002=) c.3612C= (n.3612C=) c.1289C= (p.Ser430=) n.1224C= c.1292C= (p.Ser431=) c.5613C= c.6071C= (p.Ser2024=) c.704+291C= (n.704+291C=) c.3393C= c.5795C= (p.Ser1932=) c.5507C= (p.Ser1836=) c.3035C= (p.Ser1012=) | |
19 | g.35732620C>G | CA9385599 | KMT2B | n.377C>G c.6005C>G (p.Ser2002Cys) c.3612C>G (n.3612C>G) c.1289C>G (p.Ser430Cys) n.1224C>G c.1292C>G (p.Ser431Cys) c.5613C>G c.6071C>G (p.Ser2024Cys) c.704+291C>G (n.704+291C>G) c.3393C>G c.5795C>G (p.Ser1932Cys) c.5507C>G (p.Ser1836Cys) c.3035C>G (p.Ser1012Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35732620C>T | CA405425538 | KMT2B | n.377C>T c.6005C>T (p.Ser2002Phe) c.3612C>T (n.3612C>T) c.1289C>T (p.Ser430Phe) n.1224C>T c.1292C>T (p.Ser431Phe) c.5613C>T c.6071C>T (p.Ser2024Phe) c.704+291C>T (n.704+291C>T) c.3393C>T c.5795C>T (p.Ser1932Phe) c.5507C>T (p.Ser1836Phe) c.3035C>T (p.Ser1012Phe) | |
19 | g.35732621C>A | CA507308347 | KMT2B | n.378C>A c.6006C>A (p.Ser2002=) c.3613C>A (n.3613C>A) c.1290C>A (p.Ser430=) n.1225C>A c.1293C>A (p.Ser431=) c.5614C>A c.6072C>A (p.Ser2024=) c.704+292C>A (n.704+292C>A) c.3394C>A c.5796C>A (p.Ser1932=) c.5508C>A (p.Ser1836=) c.3036C>A (p.Ser1012=) | |
19 | g.35732621C= | CA2333794405 | KMT2B | n.378C= c.6006C= (p.Ser2002=) c.3613C= (n.3613C=) c.1290C= (p.Ser430=) n.1225C= c.1293C= (p.Ser431=) c.5614C= c.6072C= (p.Ser2024=) c.704+292C= (n.704+292C=) c.3394C= c.5796C= (p.Ser1932=) c.5508C= (p.Ser1836=) c.3036C= (p.Ser1012=) | |
19 | g.35732621C>G | CA507308348 | KMT2B | n.378C>G c.6006C>G (p.Ser2002=) c.3613C>G (n.3613C>G) c.1290C>G (p.Ser430=) n.1225C>G c.1293C>G (p.Ser431=) c.5614C>G c.6072C>G (p.Ser2024=) c.704+292C>G (n.704+292C>G) c.3394C>G c.5796C>G (p.Ser1932=) c.5508C>G (p.Ser1836=) c.3036C>G (p.Ser1012=) | gnomAD v4 |
19 | g.35732621C>T | CA9385600 | KMT2B | n.378C>T c.6006C>T (p.Ser2002=) c.3613C>T (n.3613C>T) c.1290C>T (p.Ser430=) n.1225C>T c.1293C>T (p.Ser431=) c.5614C>T c.6072C>T (p.Ser2024=) c.704+292C>T (n.704+292C>T) c.3394C>T c.5796C>T (p.Ser1932=) c.5508C>T (p.Ser1836=) c.3036C>T (p.Ser1012=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35732622G>A | CA9385601 | KMT2B | n.379G>A c.6007G>A (p.Glu2003Lys) c.3614G>A (n.3614G>A) c.1291G>A (p.Glu431Lys) n.1226G>A c.1294G>A (p.Glu432Lys) c.5615G>A c.6073G>A (p.Glu2025Lys) c.704+293G>A (n.704+293G>A) c.3395G>A c.5797G>A (p.Glu1933Lys) c.5509G>A (p.Glu1837Lys) c.3037G>A (p.Glu1013Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35732622G>C | CA405425546 | KMT2B | n.379G>C c.6007G>C (p.Glu2003Gln) c.3614G>C (n.3614G>C) c.1291G>C (p.Glu431Gln) n.1226G>C c.1294G>C (p.Glu432Gln) c.5615G>C c.6073G>C (p.Glu2025Gln) c.704+293G>C (n.704+293G>C) c.3395G>C c.5797G>C (p.Glu1933Gln) c.5509G>C (p.Glu1837Gln) c.3037G>C (p.Glu1013Gln) | |
19 | g.35732622G= | CA2333794406 | KMT2B | n.379G= c.6007G= (p.Glu2003=) c.3614G= (n.3614G=) c.1291G= (p.Glu431=) n.1226G= c.1294G= (p.Glu432=) c.5615G= c.6073G= (p.Glu2025=) c.704+293G= (n.704+293G=) c.3395G= c.5797G= (p.Glu1933=) c.5509G= (p.Glu1837=) c.3037G= (p.Glu1013=) | |
19 | g.35732622G>T | CA405425548 | KMT2B | n.379G>T c.6007G>T (p.Glu2003Ter) c.3614G>T (n.3614G>T) c.1291G>T (p.Glu431Ter) n.1226G>T c.1294G>T (p.Glu432Ter) c.5615G>T c.6073G>T (p.Glu2025Ter) c.704+293G>T (n.704+293G>T) c.3395G>T c.5797G>T (p.Glu1933Ter) c.5509G>T (p.Glu1837Ter) c.3037G>T (p.Glu1013Ter) | |
19 | g.35732628_35732630del | CA2576757208 | KMT2B | n.385_387del c.6013_6015del (p.Glu2005del) c.3620_3622del (n.3620_3622del) c.1297_1299del (p.Glu433del) n.1232_1234del c.1300_1302del (p.Glu434del) c.5621_5623del c.6079_6081del (p.Glu2027del) c.704+299_704+301del (n.704+299_704+301del) c.3401_3403del c.5803_5805del (p.Glu1935del) c.5515_5517del (p.Glu1839del) c.3043_3045del (p.Glu1015del) | |
19 | g.35732623A>C | CA405425551 | KMT2B | n.380A>C c.6008A>C (p.Glu2003Ala) c.3615A>C (n.3615A>C) c.1292A>C (p.Glu431Ala) n.1227A>C c.1295A>C (p.Glu432Ala) c.5616A>C c.6074A>C (p.Glu2025Ala) c.704+294A>C (n.704+294A>C) c.3396A>C c.5798A>C (p.Glu1933Ala) c.5510A>C (p.Glu1837Ala) c.3038A>C (p.Glu1013Ala) | |
19 | g.35732623A>G | CA405425553 | KMT2B | n.380A>G c.6008A>G (p.Glu2003Gly) c.3615A>G (n.3615A>G) c.1292A>G (p.Glu431Gly) n.1227A>G c.1295A>G (p.Glu432Gly) c.5616A>G c.6074A>G (p.Glu2025Gly) c.704+294A>G (n.704+294A>G) c.3396A>G c.5798A>G (p.Glu1933Gly) c.5510A>G (p.Glu1837Gly) c.3038A>G (p.Glu1013Gly) | |
19 | g.35732623A>T | CA405425555 | KMT2B | n.380A>T c.6008A>T (p.Glu2003Val) c.3615A>T (n.3615A>T) c.1292A>T (p.Glu431Val) n.1227A>T c.1295A>T (p.Glu432Val) c.5616A>T c.6074A>T (p.Glu2025Val) c.704+294A>T (n.704+294A>T) c.3396A>T c.5798A>T (p.Glu1933Val) c.5510A>T (p.Glu1837Val) c.3038A>T (p.Glu1013Val) | |
19 | g.35732624G>A | CA507308353 | KMT2B | n.381G>A c.6009G>A (p.Glu2003=) c.3616G>A (n.3616G>A) c.1293G>A (p.Glu431=) n.1228G>A c.1296G>A (p.Glu432=) c.5617G>A c.6075G>A (p.Glu2025=) c.704+295G>A (n.704+295G>A) c.3397G>A c.5799G>A (p.Glu1933=) c.5511G>A (p.Glu1837=) c.3039G>A (p.Glu1013=) | |
19 | g.35732624G>C | CA405425558 | KMT2B | n.381G>C c.6009G>C (p.Glu2003Asp) c.3616G>C (n.3616G>C) c.1293G>C (p.Glu431Asp) n.1228G>C c.1296G>C (p.Glu432Asp) c.5617G>C c.6075G>C (p.Glu2025Asp) c.704+295G>C (n.704+295G>C) c.3397G>C c.5799G>C (p.Glu1933Asp) c.5511G>C (p.Glu1837Asp) c.3039G>C (p.Glu1013Asp) | |
19 | g.35732624G>T | CA405425560 | KMT2B | n.381G>T c.6009G>T (p.Glu2003Asp) c.3616G>T (n.3616G>T) c.1293G>T (p.Glu431Asp) n.1228G>T c.1296G>T (p.Glu432Asp) c.5617G>T c.6075G>T (p.Glu2025Asp) c.704+295G>T (n.704+295G>T) c.3397G>T c.5799G>T (p.Glu1933Asp) c.5511G>T (p.Glu1837Asp) c.3039G>T (p.Glu1013Asp) | |
19 | g.35732625G>A | CA405425563 | KMT2B | n.382G>A c.6010G>A (p.Glu2004Lys) c.3617G>A (n.3617G>A) c.1294G>A (p.Glu432Lys) n.1229G>A c.1297G>A (p.Glu433Lys) c.5618G>A c.6076G>A (p.Glu2026Lys) c.704+296G>A (n.704+296G>A) c.3398G>A c.5800G>A (p.Glu1934Lys) c.5512G>A (p.Glu1838Lys) c.3040G>A (p.Glu1014Lys) | gnomAD v4 |
19 | g.35732625G>C | CA405425565 | KMT2B | n.382G>C c.6010G>C (p.Glu2004Gln) c.3617G>C (n.3617G>C) c.1294G>C (p.Glu432Gln) n.1229G>C c.1297G>C (p.Glu433Gln) c.5618G>C c.6076G>C (p.Glu2026Gln) c.704+296G>C (n.704+296G>C) c.3398G>C c.5800G>C (p.Glu1934Gln) c.5512G>C (p.Glu1838Gln) c.3040G>C (p.Glu1014Gln) | |
19 | g.35732625G>T | CA405425567 | KMT2B | n.382G>T c.6010G>T (p.Glu2004Ter) c.3617G>T (n.3617G>T) c.1294G>T (p.Glu432Ter) n.1229G>T c.1297G>T (p.Glu433Ter) c.5618G>T c.6076G>T (p.Glu2026Ter) c.704+296G>T (n.704+296G>T) c.3398G>T c.5800G>T (p.Glu1934Ter) c.5512G>T (p.Glu1838Ter) c.3040G>T (p.Glu1014Ter) | |
19 | g.35732626A>C | CA405425570 | KMT2B | n.383A>C c.6011A>C (p.Glu2004Ala) c.3618A>C (n.3618A>C) c.1295A>C (p.Glu432Ala) n.1230A>C c.1298A>C (p.Glu433Ala) c.5619A>C c.6077A>C (p.Glu2026Ala) c.704+297A>C (n.704+297A>C) c.3399A>C c.5801A>C (p.Glu1934Ala) c.5513A>C (p.Glu1838Ala) c.3041A>C (p.Glu1014Ala) | |
19 | g.35732626A>G | CA405425573 | KMT2B | n.383A>G c.6011A>G (p.Glu2004Gly) c.3618A>G (n.3618A>G) c.1295A>G (p.Glu432Gly) n.1230A>G c.1298A>G (p.Glu433Gly) c.5619A>G c.6077A>G (p.Glu2026Gly) c.704+297A>G (n.704+297A>G) c.3399A>G c.5801A>G (p.Glu1934Gly) c.5513A>G (p.Glu1838Gly) c.3041A>G (p.Glu1014Gly) | |
19 | g.35732626A>T | CA405425571 | KMT2B | n.383A>T c.6011A>T (p.Glu2004Val) c.3618A>T (n.3618A>T) c.1295A>T (p.Glu432Val) n.1230A>T c.1298A>T (p.Glu433Val) c.5619A>T c.6077A>T (p.Glu2026Val) c.704+297A>T (n.704+297A>T) c.3399A>T c.5801A>T (p.Glu1934Val) c.5513A>T (p.Glu1838Val) c.3041A>T (p.Glu1014Val) | |
19 | g.35732627G>A | CA507308364 | KMT2B | n.384G>A c.6012G>A (p.Glu2004=) c.3619G>A (n.3619G>A) c.1296G>A (p.Glu432=) n.1231G>A c.1299G>A (p.Glu433=) c.5620G>A c.6078G>A (p.Glu2026=) c.704+298G>A (n.704+298G>A) c.3400G>A c.5802G>A (p.Glu1934=) c.5514G>A (p.Glu1838=) c.3042G>A (p.Glu1014=) | |
19 | g.35732627G>C | CA405425575 | KMT2B | n.384G>C c.6012G>C (p.Glu2004Asp) c.3619G>C (n.3619G>C) c.1296G>C (p.Glu432Asp) n.1231G>C c.1299G>C (p.Glu433Asp) c.5620G>C c.6078G>C (p.Glu2026Asp) c.704+298G>C (n.704+298G>C) c.3400G>C c.5802G>C (p.Glu1934Asp) c.5514G>C (p.Glu1838Asp) c.3042G>C (p.Glu1014Asp) | gnomAD v4 |
19 | g.35732627G>T | CA405425578 | KMT2B | n.384G>T c.6012G>T (p.Glu2004Asp) c.3619G>T (n.3619G>T) c.1296G>T (p.Glu432Asp) n.1231G>T c.1299G>T (p.Glu433Asp) c.5620G>T c.6078G>T (p.Glu2026Asp) c.704+298G>T (n.704+298G>T) c.3400G>T c.5802G>T (p.Glu1934Asp) c.5514G>T (p.Glu1838Asp) c.3042G>T (p.Glu1014Asp) | |
19 | g.35732628G>A | CA405425580 | KMT2B | n.385G>A c.6013G>A (p.Glu2005Lys) c.3620G>A (n.3620G>A) c.1297G>A (p.Glu433Lys) n.1232G>A c.1300G>A (p.Glu434Lys) c.5621G>A c.6079G>A (p.Glu2027Lys) c.704+299G>A (n.704+299G>A) c.3401G>A c.5803G>A (p.Glu1935Lys) c.5515G>A (p.Glu1839Lys) c.3043G>A (p.Glu1015Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35732628G>C | CA405425584 | KMT2B | n.385G>C c.6013G>C (p.Glu2005Gln) c.3620G>C (n.3620G>C) c.1297G>C (p.Glu433Gln) n.1232G>C c.1300G>C (p.Glu434Gln) c.5621G>C c.6079G>C (p.Glu2027Gln) c.704+299G>C (n.704+299G>C) c.3401G>C c.5803G>C (p.Glu1935Gln) c.5515G>C (p.Glu1839Gln) c.3043G>C (p.Glu1015Gln) | |
19 | g.35732628G= | CA2333794407 | KMT2B | n.385G= c.6013G= (p.Glu2005=) c.3620G= (n.3620G=) c.1297G= (p.Glu433=) n.1232G= c.1300G= (p.Glu434=) c.5621G= c.6079G= (p.Glu2027=) c.704+299G= (n.704+299G=) c.3401G= c.5803G= (p.Glu1935=) c.5515G= (p.Glu1839=) c.3043G= (p.Glu1015=) | |
19 | g.35732628G>T | CA405425581 | KMT2B | n.385G>T c.6013G>T (p.Glu2005Ter) c.3620G>T (n.3620G>T) c.1297G>T (p.Glu433Ter) n.1232G>T c.1300G>T (p.Glu434Ter) c.5621G>T c.6079G>T (p.Glu2027Ter) c.704+299G>T (n.704+299G>T) c.3401G>T c.5803G>T (p.Glu1935Ter) c.5515G>T (p.Glu1839Ter) c.3043G>T (p.Glu1015Ter) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.35732629A= | CA2333794408 | KMT2B | n.386A= c.6014A= (p.Glu2005=) c.3621A= (n.3621A=) c.1298A= (p.Glu433=) n.1233A= c.1301A= (p.Glu434=) c.5622A= c.6080A= (p.Glu2027=) c.704+300A= (n.704+300A=) c.3402A= c.5804A= (p.Glu1935=) c.5516A= (p.Glu1839=) c.3044A= (p.Glu1015=) | |
19 | g.35732629A>C | CA405425587 | KMT2B | n.386A>C c.6014A>C (p.Glu2005Ala) c.3621A>C (n.3621A>C) c.1298A>C (p.Glu433Ala) n.1233A>C c.1301A>C (p.Glu434Ala) c.5622A>C c.6080A>C (p.Glu2027Ala) c.704+300A>C (n.704+300A>C) c.3402A>C c.5804A>C (p.Glu1935Ala) c.5516A>C (p.Glu1839Ala) c.3044A>C (p.Glu1015Ala) | dbSNP gnomAD v4 |
19 | g.35732629A>G | CA405425588 | KMT2B | n.386A>G c.6014A>G (p.Glu2005Gly) c.3621A>G (n.3621A>G) c.1298A>G (p.Glu433Gly) n.1233A>G c.1301A>G (p.Glu434Gly) c.5622A>G c.6080A>G (p.Glu2027Gly) c.704+300A>G (n.704+300A>G) c.3402A>G c.5804A>G (p.Glu1935Gly) c.5516A>G (p.Glu1839Gly) c.3044A>G (p.Glu1015Gly) | gnomAD v4 |
19 | g.35732629A>T | CA405425590 | KMT2B | n.386A>T c.6014A>T (p.Glu2005Val) c.3621A>T (n.3621A>T) c.1298A>T (p.Glu433Val) n.1233A>T c.1301A>T (p.Glu434Val) c.5622A>T c.6080A>T (p.Glu2027Val) c.704+300A>T (n.704+300A>T) c.3402A>T c.5804A>T (p.Glu1935Val) c.5516A>T (p.Glu1839Val) c.3044A>T (p.Glu1015Val) | |
19 | g.35732630G>A | CA507308375 | KMT2B | n.387G>A c.6015G>A (p.Glu2005=) c.3622G>A (n.3622G>A) c.1299G>A (p.Glu433=) n.1234G>A c.1302G>A (p.Glu434=) c.5623G>A c.6081G>A (p.Glu2027=) c.704+301G>A (n.704+301G>A) c.3403G>A c.5805G>A (p.Glu1935=) c.5517G>A (p.Glu1839=) c.3045G>A (p.Glu1015=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732630G>C | CA405425593 | KMT2B | n.387G>C c.6015G>C (p.Glu2005Asp) c.3622G>C (n.3622G>C) c.1299G>C (p.Glu433Asp) n.1234G>C c.1302G>C (p.Glu434Asp) c.5623G>C c.6081G>C (p.Glu2027Asp) c.704+301G>C (n.704+301G>C) c.3403G>C c.5805G>C (p.Glu1935Asp) c.5517G>C (p.Glu1839Asp) c.3045G>C (p.Glu1015Asp) | |
19 | g.35732630G= | CA2333794409 | KMT2B | n.387G= c.6015G= (p.Glu2005=) c.3622G= (n.3622G=) c.1299G= (p.Glu433=) n.1234G= c.1302G= (p.Glu434=) c.5623G= c.6081G= (p.Glu2027=) c.704+301G= (n.704+301G=) c.3403G= c.5805G= (p.Glu1935=) c.5517G= (p.Glu1839=) c.3045G= (p.Glu1015=) | |
19 | g.35732630G>T | CA405425595 | KMT2B | n.387G>T c.6015G>T (p.Glu2005Asp) c.3622G>T (n.3622G>T) c.1299G>T (p.Glu433Asp) n.1234G>T c.1302G>T (p.Glu434Asp) c.5623G>T c.6081G>T (p.Glu2027Asp) c.704+301G>T (n.704+301G>T) c.3403G>T c.5805G>T (p.Glu1935Asp) c.5517G>T (p.Glu1839Asp) c.3045G>T (p.Glu1015Asp) | |
19 | g.35732631T>A | CA405425601 | KMT2B | n.388T>A c.6016T>A (p.Ser2006Thr) c.3623T>A (n.3623T>A) c.1300T>A (p.Ser434Thr) n.1235T>A c.1303T>A (p.Ser435Thr) c.5624T>A c.6082T>A (p.Ser2028Thr) c.704+302T>A (n.704+302T>A) c.3404T>A c.5806T>A (p.Ser1936Thr) c.5518T>A (p.Ser1840Thr) c.3046T>A (p.Ser1016Thr) | |
19 | g.35732631T>C | CA405425598 | KMT2B | n.388T>C c.6016T>C (p.Ser2006Pro) c.3623T>C (n.3623T>C) c.1300T>C (p.Ser434Pro) n.1235T>C c.1303T>C (p.Ser435Pro) c.5624T>C c.6082T>C (p.Ser2028Pro) c.704+302T>C (n.704+302T>C) c.3404T>C c.5806T>C (p.Ser1936Pro) c.5518T>C (p.Ser1840Pro) c.3046T>C (p.Ser1016Pro) | |
19 | g.35732631T>G | CA405425597 | KMT2B | n.388T>G c.6016T>G (p.Ser2006Ala) c.3623T>G (n.3623T>G) c.1300T>G (p.Ser434Ala) n.1235T>G c.1303T>G (p.Ser435Ala) c.5624T>G c.6082T>G (p.Ser2028Ala) c.704+302T>G (n.704+302T>G) c.3404T>G c.5806T>G (p.Ser1936Ala) c.5518T>G (p.Ser1840Ala) c.3046T>G (p.Ser1016Ala) | |
19 | g.35732632C>A | CA405425604 | KMT2B | n.389C>A c.6017C>A (p.Ser2006Tyr) c.3624C>A (n.3624C>A) c.1301C>A (p.Ser434Tyr) n.1236C>A c.1304C>A (p.Ser435Tyr) c.5625C>A c.6083C>A (p.Ser2028Tyr) c.704+303C>A (n.704+303C>A) c.3405C>A c.5807C>A (p.Ser1936Tyr) c.5519C>A (p.Ser1840Tyr) c.3047C>A (p.Ser1016Tyr) | gnomAD v4 |
19 | g.35732632C= | CA2333794410 | KMT2B | n.389C= c.6017C= (p.Ser2006=) c.3624C= (n.3624C=) c.1301C= (p.Ser434=) n.1236C= c.1304C= (p.Ser435=) c.5625C= c.6083C= (p.Ser2028=) c.704+303C= (n.704+303C=) c.3405C= c.5807C= (p.Ser1936=) c.5519C= (p.Ser1840=) c.3047C= (p.Ser1016=) | |
19 | g.35732632C>G | CA405425606 | KMT2B | n.389C>G c.6017C>G (p.Ser2006Cys) c.3624C>G (n.3624C>G) c.1301C>G (p.Ser434Cys) n.1236C>G c.1304C>G (p.Ser435Cys) c.5625C>G c.6083C>G (p.Ser2028Cys) c.704+303C>G (n.704+303C>G) c.3405C>G c.5807C>G (p.Ser1936Cys) c.5519C>G (p.Ser1840Cys) c.3047C>G (p.Ser1016Cys) | gnomAD v4 |
19 | g.35732632C>T | CA405425609 | KMT2B | n.389C>T c.6017C>T (p.Ser2006Phe) c.3624C>T (n.3624C>T) c.1301C>T (p.Ser434Phe) n.1236C>T c.1304C>T (p.Ser435Phe) c.5625C>T c.6083C>T (p.Ser2028Phe) c.704+303C>T (n.704+303C>T) c.3405C>T c.5807C>T (p.Ser1936Phe) c.5519C>T (p.Ser1840Phe) c.3047C>T (p.Ser1016Phe) | dbSNP gnomAD v2 COSMIC |
19 | g.35732633C>A | CA507308379 | KMT2B | n.390C>A c.6018C>A (p.Ser2006=) c.3625C>A (n.3625C>A) c.1302C>A (p.Ser434=) n.1237C>A c.1305C>A (p.Ser435=) c.5626C>A c.6084C>A (p.Ser2028=) c.704+304C>A (n.704+304C>A) c.3406C>A c.5808C>A (p.Ser1936=) c.5520C>A (p.Ser1840=) c.3048C>A (p.Ser1016=) | |
19 | g.35732633C= | CA2333794411 | KMT2B | n.390C= c.6018C= (p.Ser2006=) c.3625C= (n.3625C=) c.1302C= (p.Ser434=) n.1237C= c.1305C= (p.Ser435=) c.5626C= c.6084C= (p.Ser2028=) c.704+304C= (n.704+304C=) c.3406C= c.5808C= (p.Ser1936=) c.5520C= (p.Ser1840=) c.3048C= (p.Ser1016=) | |
19 | g.35732633C>G | CA507308380 | KMT2B | n.390C>G c.6018C>G (p.Ser2006=) c.3625C>G (n.3625C>G) c.1302C>G (p.Ser434=) n.1237C>G c.1305C>G (p.Ser435=) c.5626C>G c.6084C>G (p.Ser2028=) c.704+304C>G (n.704+304C>G) c.3406C>G c.5808C>G (p.Ser1936=) c.5520C>G (p.Ser1840=) c.3048C>G (p.Ser1016=) | |
19 | g.35732633C>T | CA507308383 | KMT2B | n.390C>T c.6018C>T (p.Ser2006=) c.3625C>T (n.3625C>T) c.1302C>T (p.Ser434=) n.1237C>T c.1305C>T (p.Ser435=) c.5626C>T c.6084C>T (p.Ser2028=) c.704+304C>T (n.704+304C>T) c.3406C>T c.5808C>T (p.Ser1936=) c.5520C>T (p.Ser1840=) c.3048C>T (p.Ser1016=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732634A= | CA2333794412 | KMT2B | n.391A= c.6019A= (p.Ser2007=) c.3626A= (n.3626A=) c.1303A= (p.Ser435=) n.1238A= c.1306A= (p.Ser436=) c.5627A= c.6085A= (p.Ser2029=) c.704+305A= (n.704+305A=) c.3407A= c.5809A= (p.Ser1937=) c.5521A= (p.Ser1841=) c.3049A= (p.Ser1017=) | |
19 | g.35732634A>C | CA405425612 | KMT2B | n.391A>C c.6019A>C (p.Ser2007Arg) c.3626A>C (n.3626A>C) c.1303A>C (p.Ser435Arg) n.1238A>C c.1306A>C (p.Ser436Arg) c.5627A>C c.6085A>C (p.Ser2029Arg) c.704+305A>C (n.704+305A>C) c.3407A>C c.5809A>C (p.Ser1937Arg) c.5521A>C (p.Ser1841Arg) c.3049A>C (p.Ser1017Arg) | gnomAD v4 |
19 | g.35732634A>G | CA405425615 | KMT2B | n.391A>G c.6019A>G (p.Ser2007Gly) c.3626A>G (n.3626A>G) c.1303A>G (p.Ser435Gly) n.1238A>G c.1306A>G (p.Ser436Gly) c.5627A>G c.6085A>G (p.Ser2029Gly) c.704+305A>G (n.704+305A>G) c.3407A>G c.5809A>G (p.Ser1937Gly) c.5521A>G (p.Ser1841Gly) c.3049A>G (p.Ser1017Gly) | ClinVar dbSNP gnomAD v4 |
19 | g.35732634A>T | CA405425617 | KMT2B | n.391A>T c.6019A>T (p.Ser2007Cys) c.3626A>T (n.3626A>T) c.1303A>T (p.Ser435Cys) n.1238A>T c.1306A>T (p.Ser436Cys) c.5627A>T c.6085A>T (p.Ser2029Cys) c.704+305A>T (n.704+305A>T) c.3407A>T c.5809A>T (p.Ser1937Cys) c.5521A>T (p.Ser1841Cys) c.3049A>T (p.Ser1017Cys) | |
19 | g.35732635G>A | CA405425624 | KMT2B | n.392G>A c.6020G>A (p.Ser2007Asn) c.3627G>A (n.3627G>A) c.1304G>A (p.Ser435Asn) n.1239G>A c.1307G>A (p.Ser436Asn) c.5628G>A c.6086G>A (p.Ser2029Asn) c.704+306G>A (n.704+306G>A) c.3408G>A c.5810G>A (p.Ser1937Asn) c.5522G>A (p.Ser1841Asn) c.3050G>A (p.Ser1017Asn) | |
19 | g.35732635G>C | CA405425620 | KMT2B | n.392G>C c.6020G>C (p.Ser2007Thr) c.3627G>C (n.3627G>C) c.1304G>C (p.Ser435Thr) n.1239G>C c.1307G>C (p.Ser436Thr) c.5628G>C c.6086G>C (p.Ser2029Thr) c.704+306G>C (n.704+306G>C) c.3408G>C c.5810G>C (p.Ser1937Thr) c.5522G>C (p.Ser1841Thr) c.3050G>C (p.Ser1017Thr) | |
19 | g.35732635G>T | CA405425622 | KMT2B | n.392G>T c.6020G>T (p.Ser2007Ile) c.3627G>T (n.3627G>T) c.1304G>T (p.Ser435Ile) n.1239G>T c.1307G>T (p.Ser436Ile) c.5628G>T c.6086G>T (p.Ser2029Ile) c.704+306G>T (n.704+306G>T) c.3408G>T c.5810G>T (p.Ser1937Ile) c.5522G>T (p.Ser1841Ile) c.3050G>T (p.Ser1017Ile) | |
19 | g.35732636C>A | CA405425627 | KMT2B | n.393C>A c.6021C>A (p.Ser2007Arg) c.3628C>A (n.3628C>A) c.1305C>A (p.Ser435Arg) n.1240C>A c.1308C>A (p.Ser436Arg) c.5629C>A c.6087C>A (p.Ser2029Arg) c.704+307C>A (n.704+307C>A) c.3409C>A c.5811C>A (p.Ser1937Arg) c.5523C>A (p.Ser1841Arg) c.3051C>A (p.Ser1017Arg) | dbSNP gnomAD v2 |
19 | g.35732636C= | CA2333794413 | KMT2B | n.393C= c.6021C= (p.Ser2007=) c.3628C= (n.3628C=) c.1305C= (p.Ser435=) n.1240C= c.1308C= (p.Ser436=) c.5629C= c.6087C= (p.Ser2029=) c.704+307C= (n.704+307C=) c.3409C= c.5811C= (p.Ser1937=) c.5523C= (p.Ser1841=) c.3051C= (p.Ser1017=) | |
19 | g.35732636C>G | CA405425629 | KMT2B | n.393C>G c.6021C>G (p.Ser2007Arg) c.3628C>G (n.3628C>G) c.1305C>G (p.Ser435Arg) n.1240C>G c.1308C>G (p.Ser436Arg) c.5629C>G c.6087C>G (p.Ser2029Arg) c.704+307C>G (n.704+307C>G) c.3409C>G c.5811C>G (p.Ser1937Arg) c.5523C>G (p.Ser1841Arg) c.3051C>G (p.Ser1017Arg) | |
19 | g.35732636C>T | CA9385602 | KMT2B | n.393C>T c.6021C>T (p.Ser2007=) c.3628C>T (n.3628C>T) c.1305C>T (p.Ser435=) n.1240C>T c.1308C>T (p.Ser436=) c.5629C>T c.6087C>T (p.Ser2029=) c.704+307C>T (n.704+307C>T) c.3409C>T c.5811C>T (p.Ser1937=) c.5523C>T (p.Ser1841=) c.3051C>T (p.Ser1017=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35732639dup | CA2695228599 | KMT2B | n.396dup c.6024dup (p.Thr2009HisfsTer29) c.3631dup (n.3631dup) c.1308dup (p.Thr437HisfsTer29) n.1243dup c.1311dup (p.Thr438HisfsTer29) c.5632dup c.6090dup (p.Thr2031HisfsTer29) c.704+310dup (n.704+310dup) c.3412dup c.5814dup (p.Thr1939HisfsTer29) c.5526dup (p.Thr1843HisfsTer29) c.3054dup (p.Thr1019HisfsTer29) | |
19 | g.35732637C>A | CA405425634 | KMT2B | n.394C>A c.6022C>A (p.Pro2008Thr) c.3629C>A (n.3629C>A) c.1306C>A (p.Pro436Thr) n.1241C>A c.1309C>A (p.Pro437Thr) c.5630C>A c.6088C>A (p.Pro2030Thr) c.704+308C>A (n.704+308C>A) c.3410C>A c.5812C>A (p.Pro1938Thr) c.5524C>A (p.Pro1842Thr) c.3052C>A (p.Pro1018Thr) | |
19 | g.35732637C= | CA2333794414 | KMT2B | n.394C= c.6022C= (p.Pro2008=) c.3629C= (n.3629C=) c.1306C= (p.Pro436=) n.1241C= c.1309C= (p.Pro437=) c.5630C= c.6088C= (p.Pro2030=) c.704+308C= (n.704+308C=) c.3410C= c.5812C= (p.Pro1938=) c.5524C= (p.Pro1842=) c.3052C= (p.Pro1018=) | |
19 | g.35732637C>G | CA405425636 | KMT2B | n.394C>G c.6022C>G (p.Pro2008Ala) c.3629C>G (n.3629C>G) c.1306C>G (p.Pro436Ala) n.1241C>G c.1309C>G (p.Pro437Ala) c.5630C>G c.6088C>G (p.Pro2030Ala) c.704+308C>G (n.704+308C>G) c.3410C>G c.5812C>G (p.Pro1938Ala) c.5524C>G (p.Pro1842Ala) c.3052C>G (p.Pro1018Ala) | |
19 | g.35732637C>T | CA307796240 | KMT2B | n.394C>T c.6022C>T (p.Pro2008Ser) c.3629C>T (n.3629C>T) c.1306C>T (p.Pro436Ser) n.1241C>T c.1309C>T (p.Pro437Ser) c.5630C>T c.6088C>T (p.Pro2030Ser) c.704+308C>T (n.704+308C>T) c.3410C>T c.5812C>T (p.Pro1938Ser) c.5524C>T (p.Pro1842Ser) c.3052C>T (p.Pro1018Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35732638C>A | CA405425639 | KMT2B | n.395C>A c.6023C>A (p.Pro2008His) c.3630C>A (n.3630C>A) c.1307C>A (p.Pro436His) n.1242C>A c.1310C>A (p.Pro437His) c.5631C>A c.6089C>A (p.Pro2030His) c.704+309C>A (n.704+309C>A) c.3411C>A c.5813C>A (p.Pro1938His) c.5525C>A (p.Pro1842His) c.3053C>A (p.Pro1018His) | |
19 | g.35732638C>G | CA405425640 | KMT2B | n.395C>G c.6023C>G (p.Pro2008Arg) c.3630C>G (n.3630C>G) c.1307C>G (p.Pro436Arg) n.1242C>G c.1310C>G (p.Pro437Arg) c.5631C>G c.6089C>G (p.Pro2030Arg) c.704+309C>G (n.704+309C>G) c.3411C>G c.5813C>G (p.Pro1938Arg) c.5525C>G (p.Pro1842Arg) c.3053C>G (p.Pro1018Arg) | |
19 | g.35732638C>T | CA405425642 | KMT2B | n.395C>T c.6023C>T (p.Pro2008Leu) c.3630C>T (n.3630C>T) c.1307C>T (p.Pro436Leu) n.1242C>T c.1310C>T (p.Pro437Leu) c.5631C>T c.6089C>T (p.Pro2030Leu) c.704+309C>T (n.704+309C>T) c.3411C>T c.5813C>T (p.Pro1938Leu) c.5525C>T (p.Pro1842Leu) c.3053C>T (p.Pro1018Leu) |