Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35733046_35733055delinsTCCCAGGGGC | CA2333794624 | KMT2B | n.803_812delinsTCCCAGGGGC c.6431_6440delinsTCCCAGGGGC (p.Leu2144=) c.4038_4047delinsTCCCAGGGGC (n.4038_4047delinsTCCCAGGGGC) c.1715_1724delinsTCCCAGGGGC (p.Leu572=) n.1650_1659delinsTCCCAGGGGC c.1718_1727delinsTCCCAGGGGC (p.Leu573=) c.6039_6048delinsTCCCAGGGGC c.6497_6506delinsTCCCAGGGGC (p.Leu2166=) c.705-551_705-542delinsTCCCAGGGGC (n.705-551_705-542delinsTCCCAGGGGC) c.3819_3828delinsTCCCAGGGGC c.6221_6230delinsTCCCAGGGGC (p.Leu2074=) c.5933_5942delinsTCCCAGGGGC (p.Leu1978=) c.3461_3470delinsTCCCAGGGGC (p.Leu1154=) | |
19 | g.35733055_35733063del | CA9385703 | KMT2B | n.812_820del c.6440_6448del (p.Ala2147_Gly2149del) c.4047_4055del (n.4047_4055del) c.1724_1732del (p.Ala575_Gly577del) n.1659_1667del c.1727_1735del (p.Ala576_Gly578del) c.6048_6056del c.6506_6514del (p.Ala2169_Gly2171del) c.705-542_705-534del (n.705-542_705-534del) c.3828_3836del c.6230_6238del (p.Ala2077_Gly2079del) c.5942_5950del (p.Ala1981_Gly1983del) c.3470_3478del (p.Ala1157_Gly1159del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733051G>A | CA405428915 | KMT2B | n.808G>A c.6436G>A (p.Gly2146Arg) c.4043G>A (n.4043G>A) c.1720G>A (p.Gly574Arg) n.1655G>A c.1723G>A (p.Gly575Arg) c.6044G>A c.6502G>A (p.Gly2168Arg) c.705-546G>A (n.705-546G>A) c.3824G>A c.6226G>A (p.Gly2076Arg) c.5938G>A (p.Gly1980Arg) c.3466G>A (p.Gly1156Arg) | gnomAD v4 |
19 | g.35733051G>C | CA405428918 | KMT2B | n.808G>C c.6436G>C (p.Gly2146Arg) c.4043G>C (n.4043G>C) c.1720G>C (p.Gly574Arg) n.1655G>C c.1723G>C (p.Gly575Arg) c.6044G>C c.6502G>C (p.Gly2168Arg) c.705-546G>C (n.705-546G>C) c.3824G>C c.6226G>C (p.Gly2076Arg) c.5938G>C (p.Gly1980Arg) c.3466G>C (p.Gly1156Arg) | dbSNP gnomAD v4 |
19 | g.35733051G= | CA2333794628 | KMT2B | n.808G= c.6436G= (p.Gly2146=) c.4043G= (n.4043G=) c.1720G= (p.Gly574=) n.1655G= c.1723G= (p.Gly575=) c.6044G= c.6502G= (p.Gly2168=) c.705-546G= (n.705-546G=) c.3824G= c.6226G= (p.Gly2076=) c.5938G= (p.Gly1980=) c.3466G= (p.Gly1156=) | |
19 | g.35733051G>T | CA405428920 | KMT2B | n.808G>T c.6436G>T (p.Gly2146Trp) c.4043G>T (n.4043G>T) c.1720G>T (p.Gly574Trp) n.1655G>T c.1723G>T (p.Gly575Trp) c.6044G>T c.6502G>T (p.Gly2168Trp) c.705-546G>T (n.705-546G>T) c.3824G>T c.6226G>T (p.Gly2076Trp) c.5938G>T (p.Gly1980Trp) c.3466G>T (p.Gly1156Trp) | |
19 | g.35733052G>A | CA405428924 | KMT2B | n.809G>A c.6437G>A (p.Gly2146Glu) c.4044G>A (n.4044G>A) c.1721G>A (p.Gly574Glu) n.1656G>A c.1724G>A (p.Gly575Glu) c.6045G>A c.6503G>A (p.Gly2168Glu) c.705-545G>A (n.705-545G>A) c.3825G>A c.6227G>A (p.Gly2076Glu) c.5939G>A (p.Gly1980Glu) c.3467G>A (p.Gly1156Glu) | dbSNP gnomAD v2 |
19 | g.35733052G>C | CA405428926 | KMT2B | n.809G>C c.6437G>C (p.Gly2146Ala) c.4044G>C (n.4044G>C) c.1721G>C (p.Gly574Ala) n.1656G>C c.1724G>C (p.Gly575Ala) c.6045G>C c.6503G>C (p.Gly2168Ala) c.705-545G>C (n.705-545G>C) c.3825G>C c.6227G>C (p.Gly2076Ala) c.5939G>C (p.Gly1980Ala) c.3467G>C (p.Gly1156Ala) | |
19 | g.35733052G= | CA2333794629 | KMT2B | n.809G= c.6437G= (p.Gly2146=) c.4044G= (n.4044G=) c.1721G= (p.Gly574=) n.1656G= c.1724G= (p.Gly575=) c.6045G= c.6503G= (p.Gly2168=) c.705-545G= (n.705-545G=) c.3825G= c.6227G= (p.Gly2076=) c.5939G= (p.Gly1980=) c.3467G= (p.Gly1156=) | |
19 | g.35733052G>T | CA405428930 | KMT2B | n.809G>T c.6437G>T (p.Gly2146Val) c.4044G>T (n.4044G>T) c.1721G>T (p.Gly574Val) n.1656G>T c.1724G>T (p.Gly575Val) c.6045G>T c.6503G>T (p.Gly2168Val) c.705-545G>T (n.705-545G>T) c.3825G>T c.6227G>T (p.Gly2076Val) c.5939G>T (p.Gly1980Val) c.3467G>T (p.Gly1156Val) | |
19 | g.35733053G>A | CA507308332 | KMT2B | n.810G>A c.6438G>A (p.Gly2146=) c.4045G>A (n.4045G>A) c.1722G>A (p.Gly574=) n.1657G>A c.1725G>A (p.Gly575=) c.6046G>A c.6504G>A (p.Gly2168=) c.705-544G>A (n.705-544G>A) c.3826G>A c.6228G>A (p.Gly2076=) c.5940G>A (p.Gly1980=) c.3468G>A (p.Gly1156=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733053G>C | CA507308335 | KMT2B | n.810G>C c.6438G>C (p.Gly2146=) c.4045G>C (n.4045G>C) c.1722G>C (p.Gly574=) n.1657G>C c.1725G>C (p.Gly575=) c.6046G>C c.6504G>C (p.Gly2168=) c.705-544G>C (n.705-544G>C) c.3826G>C c.6228G>C (p.Gly2076=) c.5940G>C (p.Gly1980=) c.3468G>C (p.Gly1156=) | |
19 | g.35733053G= | CA2333794630 | KMT2B | n.810G= c.6438G= (p.Gly2146=) c.4045G= (n.4045G=) c.1722G= (p.Gly574=) n.1657G= c.1725G= (p.Gly575=) c.6046G= c.6504G= (p.Gly2168=) c.705-544G= (n.705-544G=) c.3826G= c.6228G= (p.Gly2076=) c.5940G= (p.Gly1980=) c.3468G= (p.Gly1156=) | |
19 | g.35733053G>T | CA507308333 | KMT2B | n.810G>T c.6438G>T (p.Gly2146=) c.4045G>T (n.4045G>T) c.1722G>T (p.Gly574=) n.1657G>T c.1725G>T (p.Gly575=) c.6046G>T c.6504G>T (p.Gly2168=) c.705-544G>T (n.705-544G>T) c.3826G>T c.6228G>T (p.Gly2076=) c.5940G>T (p.Gly1980=) c.3468G>T (p.Gly1156=) | gnomAD v4 |
19 | g.35733054G>A | CA405428936 | KMT2B | n.811G>A c.6439G>A (p.Ala2147Thr) c.4046G>A (n.4046G>A) c.1723G>A (p.Ala575Thr) n.1658G>A c.1726G>A (p.Ala576Thr) c.6047G>A c.6505G>A (p.Ala2169Thr) c.705-543G>A (n.705-543G>A) c.3827G>A c.6229G>A (p.Ala2077Thr) c.5941G>A (p.Ala1981Thr) c.3469G>A (p.Ala1157Thr) | gnomAD v4 |
19 | g.35733054G>C | CA405428938 | KMT2B | n.811G>C c.6439G>C (p.Ala2147Pro) c.4046G>C (n.4046G>C) c.1723G>C (p.Ala575Pro) n.1658G>C c.1726G>C (p.Ala576Pro) c.6047G>C c.6505G>C (p.Ala2169Pro) c.705-543G>C (n.705-543G>C) c.3827G>C c.6229G>C (p.Ala2077Pro) c.5941G>C (p.Ala1981Pro) c.3469G>C (p.Ala1157Pro) | |
19 | g.35733054G>T | CA405428934 | KMT2B | n.811G>T c.6439G>T (p.Ala2147Ser) c.4046G>T (n.4046G>T) c.1723G>T (p.Ala575Ser) n.1658G>T c.1726G>T (p.Ala576Ser) c.6047G>T c.6505G>T (p.Ala2169Ser) c.705-543G>T (n.705-543G>T) c.3827G>T c.6229G>T (p.Ala2077Ser) c.5941G>T (p.Ala1981Ser) c.3469G>T (p.Ala1157Ser) | gnomAD v4 |
19 | g.35733055C>A | CA405428942 | KMT2B | n.812C>A c.6440C>A (p.Ala2147Asp) c.4047C>A (n.4047C>A) c.1724C>A (p.Ala575Asp) n.1659C>A c.1727C>A (p.Ala576Asp) c.6048C>A c.6506C>A (p.Ala2169Asp) c.705-542C>A (n.705-542C>A) c.3828C>A c.6230C>A (p.Ala2077Asp) c.5942C>A (p.Ala1981Asp) c.3470C>A (p.Ala1157Asp) | gnomAD v4 |
19 | g.35733055C>G | CA405428944 | KMT2B | n.812C>G c.6440C>G (p.Ala2147Gly) c.4047C>G (n.4047C>G) c.1724C>G (p.Ala575Gly) n.1659C>G c.1727C>G (p.Ala576Gly) c.6048C>G c.6506C>G (p.Ala2169Gly) c.705-542C>G (n.705-542C>G) c.3828C>G c.6230C>G (p.Ala2077Gly) c.5942C>G (p.Ala1981Gly) c.3470C>G (p.Ala1157Gly) | |
19 | g.35733055C>T | CA405428946 | KMT2B | n.812C>T c.6440C>T (p.Ala2147Val) c.4047C>T (n.4047C>T) c.1724C>T (p.Ala575Val) n.1659C>T c.1727C>T (p.Ala576Val) c.6048C>T c.6506C>T (p.Ala2169Val) c.705-542C>T (n.705-542C>T) c.3828C>T c.6230C>T (p.Ala2077Val) c.5942C>T (p.Ala1981Val) c.3470C>T (p.Ala1157Val) | |
19 | g.35733056C>A | CA507308346 | KMT2B | n.813C>A c.6441C>A (p.Ala2147=) c.4048C>A (n.4048C>A) c.1725C>A (p.Ala575=) n.1660C>A c.1728C>A (p.Ala576=) c.6049C>A c.6507C>A (p.Ala2169=) c.705-541C>A (n.705-541C>A) c.3829C>A c.6231C>A (p.Ala2077=) c.5943C>A (p.Ala1981=) c.3471C>A (p.Ala1157=) | gnomAD v4 |
19 | g.35733056C= | CA2333794631 | KMT2B | n.813C= c.6441C= (p.Ala2147=) c.4048C= (n.4048C=) c.1725C= (p.Ala575=) n.1660C= c.1728C= (p.Ala576=) c.6049C= c.6507C= (p.Ala2169=) c.705-541C= (n.705-541C=) c.3829C= c.6231C= (p.Ala2077=) c.5943C= (p.Ala1981=) c.3471C= (p.Ala1157=) | |
19 | g.35733056C>G | CA507308342 | KMT2B | n.813C>G c.6441C>G (p.Ala2147=) c.4048C>G (n.4048C>G) c.1725C>G (p.Ala575=) n.1660C>G c.1728C>G (p.Ala576=) c.6049C>G c.6507C>G (p.Ala2169=) c.705-541C>G (n.705-541C>G) c.3829C>G c.6231C>G (p.Ala2077=) c.5943C>G (p.Ala1981=) c.3471C>G (p.Ala1157=) | |
19 | g.35733056C>T | CA507308339 | KMT2B | n.813C>T c.6441C>T (p.Ala2147=) c.4048C>T (n.4048C>T) c.1725C>T (p.Ala575=) n.1660C>T c.1728C>T (p.Ala576=) c.6049C>T c.6507C>T (p.Ala2169=) c.705-541C>T (n.705-541C>T) c.3829C>T c.6231C>T (p.Ala2077=) c.5943C>T (p.Ala1981=) c.3471C>T (p.Ala1157=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733057C>A | CA405428950 | KMT2B | n.814C>A c.6442C>A (p.Pro2148Thr) c.4049C>A (n.4049C>A) c.1726C>A (p.Pro576Thr) n.1661C>A c.1729C>A (p.Pro577Thr) c.6050C>A c.6508C>A (p.Pro2170Thr) c.705-540C>A (n.705-540C>A) c.3830C>A c.6232C>A (p.Pro2078Thr) c.5944C>A (p.Pro1982Thr) c.3472C>A (p.Pro1158Thr) | |
19 | g.35733057C>G | CA405428951 | KMT2B | n.814C>G c.6442C>G (p.Pro2148Ala) c.4049C>G (n.4049C>G) c.1726C>G (p.Pro576Ala) n.1661C>G c.1729C>G (p.Pro577Ala) c.6050C>G c.6508C>G (p.Pro2170Ala) c.705-540C>G (n.705-540C>G) c.3830C>G c.6232C>G (p.Pro2078Ala) c.5944C>G (p.Pro1982Ala) c.3472C>G (p.Pro1158Ala) | |
19 | g.35733057C>T | CA405428954 | KMT2B | n.814C>T c.6442C>T (p.Pro2148Ser) c.4049C>T (n.4049C>T) c.1726C>T (p.Pro576Ser) n.1661C>T c.1729C>T (p.Pro577Ser) c.6050C>T c.6508C>T (p.Pro2170Ser) c.705-540C>T (n.705-540C>T) c.3830C>T c.6232C>T (p.Pro2078Ser) c.5944C>T (p.Pro1982Ser) c.3472C>T (p.Pro1158Ser) | |
19 | g.35733058C>A | CA405428959 | KMT2B | n.815C>A c.6443C>A (p.Pro2148Gln) c.4050C>A (n.4050C>A) c.1727C>A (p.Pro576Gln) n.1662C>A c.1730C>A (p.Pro577Gln) c.6051C>A c.6509C>A (p.Pro2170Gln) c.705-539C>A (n.705-539C>A) c.3831C>A c.6233C>A (p.Pro2078Gln) c.5945C>A (p.Pro1982Gln) c.3473C>A (p.Pro1158Gln) | gnomAD v4 |
19 | g.35733058C>G | CA405428966 | KMT2B | n.815C>G c.6443C>G (p.Pro2148Arg) c.4050C>G (n.4050C>G) c.1727C>G (p.Pro576Arg) n.1662C>G c.1730C>G (p.Pro577Arg) c.6051C>G c.6509C>G (p.Pro2170Arg) c.705-539C>G (n.705-539C>G) c.3831C>G c.6233C>G (p.Pro2078Arg) c.5945C>G (p.Pro1982Arg) c.3473C>G (p.Pro1158Arg) | |
19 | g.35733058C>T | CA405428961 | KMT2B | n.815C>T c.6443C>T (p.Pro2148Leu) c.4050C>T (n.4050C>T) c.1727C>T (p.Pro576Leu) n.1662C>T c.1730C>T (p.Pro577Leu) c.6051C>T c.6509C>T (p.Pro2170Leu) c.705-539C>T (n.705-539C>T) c.3831C>T c.6233C>T (p.Pro2078Leu) c.5945C>T (p.Pro1982Leu) c.3473C>T (p.Pro1158Leu) | |
19 | g.35733059A= | CA2333794632 | KMT2B | n.816A= c.6444A= (p.Pro2148=) c.4051A= (n.4051A=) c.1728A= (p.Pro576=) n.1663A= c.1731A= (p.Pro577=) c.6052A= c.6510A= (p.Pro2170=) c.705-538A= (n.705-538A=) c.3832A= c.6234A= (p.Pro2078=) c.5946A= (p.Pro1982=) c.3474A= (p.Pro1158=) | |
19 | g.35733059A>C | CA507308355 | KMT2B | n.816A>C c.6444A>C (p.Pro2148=) c.4051A>C (n.4051A>C) c.1728A>C (p.Pro576=) n.1663A>C c.1731A>C (p.Pro577=) c.6052A>C c.6510A>C (p.Pro2170=) c.705-538A>C (n.705-538A>C) c.3832A>C c.6234A>C (p.Pro2078=) c.5946A>C (p.Pro1982=) c.3474A>C (p.Pro1158=) | |
19 | g.35733059A>G | CA9385704 | KMT2B | n.816A>G c.6444A>G (p.Pro2148=) c.4051A>G (n.4051A>G) c.1728A>G (p.Pro576=) n.1663A>G c.1731A>G (p.Pro577=) c.6052A>G c.6510A>G (p.Pro2170=) c.705-538A>G (n.705-538A>G) c.3832A>G c.6234A>G (p.Pro2078=) c.5946A>G (p.Pro1982=) c.3474A>G (p.Pro1158=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733059A>T | CA507308358 | KMT2B | n.816A>T c.6444A>T (p.Pro2148=) c.4051A>T (n.4051A>T) c.1728A>T (p.Pro576=) n.1663A>T c.1731A>T (p.Pro577=) c.6052A>T c.6510A>T (p.Pro2170=) c.705-538A>T (n.705-538A>T) c.3832A>T c.6234A>T (p.Pro2078=) c.5946A>T (p.Pro1982=) c.3474A>T (p.Pro1158=) | |
19 | g.35733060G>A | CA405428973 | KMT2B | n.817G>A c.6445G>A (p.Gly2149Arg) c.4052G>A (n.4052G>A) c.1729G>A (p.Gly577Arg) n.1664G>A c.1732G>A (p.Gly578Arg) c.6053G>A c.6511G>A (p.Gly2171Arg) c.705-537G>A (n.705-537G>A) c.3833G>A c.6235G>A (p.Gly2079Arg) c.5947G>A (p.Gly1983Arg) c.3475G>A (p.Gly1159Arg) | |
19 | g.35733060G>C | CA405428976 | KMT2B | n.817G>C c.6445G>C (p.Gly2149Arg) c.4052G>C (n.4052G>C) c.1729G>C (p.Gly577Arg) n.1664G>C c.1732G>C (p.Gly578Arg) c.6053G>C c.6511G>C (p.Gly2171Arg) c.705-537G>C (n.705-537G>C) c.3833G>C c.6235G>C (p.Gly2079Arg) c.5947G>C (p.Gly1983Arg) c.3475G>C (p.Gly1159Arg) | dbSNP |
19 | g.35733060G= | CA2333794633 | KMT2B | n.817G= c.6445G= (p.Gly2149=) c.4052G= (n.4052G=) c.1729G= (p.Gly577=) n.1664G= c.1732G= (p.Gly578=) c.6053G= c.6511G= (p.Gly2171=) c.705-537G= (n.705-537G=) c.3833G= c.6235G= (p.Gly2079=) c.5947G= (p.Gly1983=) c.3475G= (p.Gly1159=) | |
19 | g.35733060G>T | CA405428984 | KMT2B | n.817G>T c.6445G>T (p.Gly2149Trp) c.4052G>T (n.4052G>T) c.1729G>T (p.Gly577Trp) n.1664G>T c.1732G>T (p.Gly578Trp) c.6053G>T c.6511G>T (p.Gly2171Trp) c.705-537G>T (n.705-537G>T) c.3833G>T c.6235G>T (p.Gly2079Trp) c.5947G>T (p.Gly1983Trp) c.3475G>T (p.Gly1159Trp) | gnomAD v4 |
19 | g.35733061G>A | CA405428993 | KMT2B | n.818G>A c.6446G>A (p.Gly2149Glu) c.4053G>A (n.4053G>A) c.1730G>A (p.Gly577Glu) n.1665G>A c.1733G>A (p.Gly578Glu) c.6054G>A c.6512G>A (p.Gly2171Glu) c.705-536G>A (n.705-536G>A) c.3834G>A c.6236G>A (p.Gly2079Glu) c.5948G>A (p.Gly1983Glu) c.3476G>A (p.Gly1159Glu) | gnomAD v4 |
19 | g.35733061G>C | CA405428990 | KMT2B | n.818G>C c.6446G>C (p.Gly2149Ala) c.4053G>C (n.4053G>C) c.1730G>C (p.Gly577Ala) n.1665G>C c.1733G>C (p.Gly578Ala) c.6054G>C c.6512G>C (p.Gly2171Ala) c.705-536G>C (n.705-536G>C) c.3834G>C c.6236G>C (p.Gly2079Ala) c.5948G>C (p.Gly1983Ala) c.3476G>C (p.Gly1159Ala) | |
19 | g.35733061G>T | CA405428987 | KMT2B | n.818G>T c.6446G>T (p.Gly2149Val) c.4053G>T (n.4053G>T) c.1730G>T (p.Gly577Val) n.1665G>T c.1733G>T (p.Gly578Val) c.6054G>T c.6512G>T (p.Gly2171Val) c.705-536G>T (n.705-536G>T) c.3834G>T c.6236G>T (p.Gly2079Val) c.5948G>T (p.Gly1983Val) c.3476G>T (p.Gly1159Val) | |
19 | g.35733062G>A | CA307796885 | KMT2B | n.819G>A c.6447G>A (p.Gly2149=) c.4054G>A (n.4054G>A) c.1731G>A (p.Gly577=) n.1666G>A c.1734G>A (p.Gly578=) c.6055G>A c.6513G>A (p.Gly2171=) c.705-535G>A (n.705-535G>A) c.3835G>A c.6237G>A (p.Gly2079=) c.5949G>A (p.Gly1983=) c.3477G>A (p.Gly1159=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.35733062G>C | CA507308363 | KMT2B | n.819G>C c.6447G>C (p.Gly2149=) c.4054G>C (n.4054G>C) c.1731G>C (p.Gly577=) n.1666G>C c.1734G>C (p.Gly578=) c.6055G>C c.6513G>C (p.Gly2171=) c.705-535G>C (n.705-535G>C) c.3835G>C c.6237G>C (p.Gly2079=) c.5949G>C (p.Gly1983=) c.3477G>C (p.Gly1159=) | |
19 | g.35733062G= | CA2333794634 | KMT2B | n.819G= c.6447G= (p.Gly2149=) c.4054G= (n.4054G=) c.1731G= (p.Gly577=) n.1666G= c.1734G= (p.Gly578=) c.6055G= c.6513G= (p.Gly2171=) c.705-535G= (n.705-535G=) c.3835G= c.6237G= (p.Gly2079=) c.5949G= (p.Gly1983=) c.3477G= (p.Gly1159=) | |
19 | g.35733062G>T | CA9385705 | KMT2B | n.819G>T c.6447G>T (p.Gly2149=) c.4054G>T (n.4054G>T) c.1731G>T (p.Gly577=) n.1666G>T c.1734G>T (p.Gly578=) c.6055G>T c.6513G>T (p.Gly2171=) c.705-535G>T (n.705-535G>T) c.3835G>T c.6237G>T (p.Gly2079=) c.5949G>T (p.Gly1983=) c.3477G>T (p.Gly1159=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733063G>A | CA9385706 | KMT2B | n.820G>A c.6448G>A (p.Val2150Ile) c.4055G>A (n.4055G>A) c.1732G>A (p.Val578Ile) n.1667G>A c.1735G>A (p.Val579Ile) c.6056G>A c.6514G>A (p.Val2172Ile) c.705-534G>A (n.705-534G>A) c.3836G>A c.6238G>A (p.Val2080Ile) c.5950G>A (p.Val1984Ile) c.3478G>A (p.Val1160Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733063G>C | CA405429001 | KMT2B | n.820G>C c.6448G>C (p.Val2150Leu) c.4055G>C (n.4055G>C) c.1732G>C (p.Val578Leu) n.1667G>C c.1735G>C (p.Val579Leu) c.6056G>C c.6514G>C (p.Val2172Leu) c.705-534G>C (n.705-534G>C) c.3836G>C c.6238G>C (p.Val2080Leu) c.5950G>C (p.Val1984Leu) c.3478G>C (p.Val1160Leu) | |
19 | g.35733063G= | CA2333794635 | KMT2B | n.820G= c.6448G= (p.Val2150=) c.4055G= (n.4055G=) c.1732G= (p.Val578=) n.1667G= c.1735G= (p.Val579=) c.6056G= c.6514G= (p.Val2172=) c.705-534G= (n.705-534G=) c.3836G= c.6238G= (p.Val2080=) c.5950G= (p.Val1984=) c.3478G= (p.Val1160=) | |
19 | g.35733063G>T | CA405429004 | KMT2B | n.820G>T c.6448G>T (p.Val2150Phe) c.4055G>T (n.4055G>T) c.1732G>T (p.Val578Phe) n.1667G>T c.1735G>T (p.Val579Phe) c.6056G>T c.6514G>T (p.Val2172Phe) c.705-534G>T (n.705-534G>T) c.3836G>T c.6238G>T (p.Val2080Phe) c.5950G>T (p.Val1984Phe) c.3478G>T (p.Val1160Phe) | gnomAD v4 |
19 | g.35733064T>A | CA405429008 | KMT2B | n.821T>A c.6449T>A (p.Val2150Asp) c.4056T>A (n.4056T>A) c.1733T>A (p.Val578Asp) n.1668T>A c.1736T>A (p.Val579Asp) c.6057T>A c.6515T>A (p.Val2172Asp) c.705-533T>A (n.705-533T>A) c.3837T>A c.6239T>A (p.Val2080Asp) c.5951T>A (p.Val1984Asp) c.3479T>A (p.Val1160Asp) | |
19 | g.35733064T>C | CA405429011 | KMT2B | n.821T>C c.6449T>C (p.Val2150Ala) c.4056T>C (n.4056T>C) c.1733T>C (p.Val578Ala) n.1668T>C c.1736T>C (p.Val579Ala) c.6057T>C c.6515T>C (p.Val2172Ala) c.705-533T>C (n.705-533T>C) c.3837T>C c.6239T>C (p.Val2080Ala) c.5951T>C (p.Val1984Ala) c.3479T>C (p.Val1160Ala) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35733064T>G | CA405429013 | KMT2B | n.821T>G c.6449T>G (p.Val2150Gly) c.4056T>G (n.4056T>G) c.1733T>G (p.Val578Gly) n.1668T>G c.1736T>G (p.Val579Gly) c.6057T>G c.6515T>G (p.Val2172Gly) c.705-533T>G (n.705-533T>G) c.3837T>G c.6239T>G (p.Val2080Gly) c.5951T>G (p.Val1984Gly) c.3479T>G (p.Val1160Gly) | |
19 | g.35733064T= | CA2333794636 | KMT2B | n.821T= c.6449T= (p.Val2150=) c.4056T= (n.4056T=) c.1733T= (p.Val578=) n.1668T= c.1736T= (p.Val579=) c.6057T= c.6515T= (p.Val2172=) c.705-533T= (n.705-533T=) c.3837T= c.6239T= (p.Val2080=) c.5951T= (p.Val1984=) c.3479T= (p.Val1160=) | |
19 | g.35733064_35733067delinsCCCAA | CA2695228601 | KMT2B | n.821_824delinsCCCAA c.6449_6452delinsCCCAA (p.Val2150AlafsTer11) c.4056_4059delinsCCCAA (n.4056_4059delinsCCCAA) c.1733_1736delinsCCCAA (p.Val578AlafsTer11) n.1668_1671delinsCCCAA c.1736_1739delinsCCCAA (p.Val579AlafsTer11) c.6057_6060delinsCCCAA c.6515_6518delinsCCCAA (p.Val2172AlafsTer11) c.705-533_705-530delinsCCCAA (n.705-533_705-530delinsCCCAA) c.3837_3840delinsCCCAA c.6239_6242delinsCCCAA (p.Val2080AlafsTer11) c.5951_5954delinsCCCAA (p.Val1984AlafsTer11) c.3479_3482delinsCCCAA (p.Val1160AlafsTer11) | |
19 | g.35733065C>A | CA507308371 | KMT2B | n.822C>A c.6450C>A (p.Val2150=) c.4057C>A (n.4057C>A) c.1734C>A (p.Val578=) n.1669C>A c.1737C>A (p.Val579=) c.6058C>A c.6516C>A (p.Val2172=) c.705-532C>A (n.705-532C>A) c.3838C>A c.6240C>A (p.Val2080=) c.5952C>A (p.Val1984=) c.3480C>A (p.Val1160=) | |
19 | g.35733065C>G | CA507308372 | KMT2B | n.822C>G c.6450C>G (p.Val2150=) c.4057C>G (n.4057C>G) c.1734C>G (p.Val578=) n.1669C>G c.1737C>G (p.Val579=) c.6058C>G c.6516C>G (p.Val2172=) c.705-532C>G (n.705-532C>G) c.3838C>G c.6240C>G (p.Val2080=) c.5952C>G (p.Val1984=) c.3480C>G (p.Val1160=) | |
19 | g.35733065C>T | CA507308373 | KMT2B | n.822C>T c.6450C>T (p.Val2150=) c.4057C>T (n.4057C>T) c.1734C>T (p.Val578=) n.1669C>T c.1737C>T (p.Val579=) c.6058C>T c.6516C>T (p.Val2172=) c.705-532C>T (n.705-532C>T) c.3838C>T c.6240C>T (p.Val2080=) c.5952C>T (p.Val1984=) c.3480C>T (p.Val1160=) | |
19 | g.35733066C>A | CA507308374 | KMT2B | n.823C>A c.6451C>A (p.Arg2151=) c.4058C>A (n.4058C>A) c.1735C>A (p.Arg579=) n.1670C>A c.1738C>A (p.Arg580=) c.6059C>A c.6517C>A (p.Arg2173=) c.705-531C>A (n.705-531C>A) c.3839C>A c.6241C>A (p.Arg2081=) c.5953C>A (p.Arg1985=) c.3481C>A (p.Arg1161=) | |
19 | g.35733066C= | CA2333794637 | KMT2B | n.823C= c.6451C= (p.Arg2151=) c.4058C= (n.4058C=) c.1735C= (p.Arg579=) n.1670C= c.1738C= (p.Arg580=) c.6059C= c.6517C= (p.Arg2173=) c.705-531C= (n.705-531C=) c.3839C= c.6241C= (p.Arg2081=) c.5953C= (p.Arg1985=) c.3481C= (p.Arg1161=) | |
19 | g.35733066C>G | CA405429018 | KMT2B | n.823C>G c.6451C>G (p.Arg2151Gly) c.4058C>G (n.4058C>G) c.1735C>G (p.Arg579Gly) n.1670C>G c.1738C>G (p.Arg580Gly) c.6059C>G c.6517C>G (p.Arg2173Gly) c.705-531C>G (n.705-531C>G) c.3839C>G c.6241C>G (p.Arg2081Gly) c.5953C>G (p.Arg1985Gly) c.3481C>G (p.Arg1161Gly) | ClinVar |
19 | g.35733066C>T | CA405429020 | KMT2B | n.823C>T c.6451C>T (p.Arg2151Trp) c.4058C>T (n.4058C>T) c.1735C>T (p.Arg579Trp) n.1670C>T c.1738C>T (p.Arg580Trp) c.6059C>T c.6517C>T (p.Arg2173Trp) c.705-531C>T (n.705-531C>T) c.3839C>T c.6241C>T (p.Arg2081Trp) c.5953C>T (p.Arg1985Trp) c.3481C>T (p.Arg1161Trp) | dbSNP gnomAD v4 |
19 | g.35733066_35733067insA | CA915952931 | KMT2B | n.823_824insA c.6451_6452insA (p.Arg2151GlnfsTer10) c.4058_4059insA (n.4058_4059insA) c.1735_1736insA (p.Arg579GlnfsTer10) n.1670_1671insA c.1738_1739insA (p.Arg580GlnfsTer10) c.6059_6060insA c.6517_6518insA (p.Arg2173GlnfsTer10) c.705-531_705-530insA (n.705-531_705-530insA) c.3839_3840insA c.6241_6242insA (p.Arg2081GlnfsTer10) c.5953_5954insA (p.Arg1985GlnfsTer10) c.3481_3482insA (p.Arg1161GlnfsTer10) | ClinVar dbSNP |
19 | g.35733067G>A | CA307796896 | KMT2B | n.824G>A c.6452G>A (p.Arg2151Gln) c.4059G>A (n.4059G>A) c.1736G>A (p.Arg579Gln) n.1671G>A c.1739G>A (p.Arg580Gln) c.6060G>A c.6518G>A (p.Arg2173Gln) c.705-530G>A (n.705-530G>A) c.3840G>A c.6242G>A (p.Arg2081Gln) c.5954G>A (p.Arg1985Gln) c.3482G>A (p.Arg1161Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733067G>C | CA9385707 | KMT2B | n.824G>C c.6452G>C (p.Arg2151Pro) c.4059G>C (n.4059G>C) c.1736G>C (p.Arg579Pro) n.1671G>C c.1739G>C (p.Arg580Pro) c.6060G>C c.6518G>C (p.Arg2173Pro) c.705-530G>C (n.705-530G>C) c.3840G>C c.6242G>C (p.Arg2081Pro) c.5954G>C (p.Arg1985Pro) c.3482G>C (p.Arg1161Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35733067G= | CA2333794638 | KMT2B | n.824G= c.6452G= (p.Arg2151=) c.4059G= (n.4059G=) c.1736G= (p.Arg579=) n.1671G= c.1739G= (p.Arg580=) c.6060G= c.6518G= (p.Arg2173=) c.705-530G= (n.705-530G=) c.3840G= c.6242G= (p.Arg2081=) c.5954G= (p.Arg1985=) c.3482G= (p.Arg1161=) | |
19 | g.35733067G>T | CA405429029 | KMT2B | n.824G>T c.6452G>T (p.Arg2151Leu) c.4059G>T (n.4059G>T) c.1736G>T (p.Arg579Leu) n.1671G>T c.1739G>T (p.Arg580Leu) c.6060G>T c.6518G>T (p.Arg2173Leu) c.705-530G>T (n.705-530G>T) c.3840G>T c.6242G>T (p.Arg2081Leu) c.5954G>T (p.Arg1985Leu) c.3482G>T (p.Arg1161Leu) | |
19 | g.35733068G>A | CA307796906 | KMT2B | n.825G>A c.6453G>A (p.Arg2151=) c.4060G>A (n.4060G>A) c.1737G>A (p.Arg579=) n.1672G>A c.1740G>A (p.Arg580=) c.6061G>A c.6519G>A (p.Arg2173=) c.705-529G>A (n.705-529G>A) c.3841G>A c.6243G>A (p.Arg2081=) c.5955G>A (p.Arg1985=) c.3483G>A (p.Arg1161=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35733068G>C | CA507308385 | KMT2B | n.825G>C c.6453G>C (p.Arg2151=) c.4060G>C (n.4060G>C) c.1737G>C (p.Arg579=) n.1672G>C c.1740G>C (p.Arg580=) c.6061G>C c.6519G>C (p.Arg2173=) c.705-529G>C (n.705-529G>C) c.3841G>C c.6243G>C (p.Arg2081=) c.5955G>C (p.Arg1985=) c.3483G>C (p.Arg1161=) | gnomAD v4 |
19 | g.35733068G= | CA2333794639 | KMT2B | n.825G= c.6453G= (p.Arg2151=) c.4060G= (n.4060G=) c.1737G= (p.Arg579=) n.1672G= c.1740G= (p.Arg580=) c.6061G= c.6519G= (p.Arg2173=) c.705-529G= (n.705-529G=) c.3841G= c.6243G= (p.Arg2081=) c.5955G= (p.Arg1985=) c.3483G= (p.Arg1161=) | |
19 | g.35733068G>T | CA9385708 | KMT2B | n.825G>T c.6453G>T (p.Arg2151=) c.4060G>T (n.4060G>T) c.1737G>T (p.Arg579=) n.1672G>T c.1740G>T (p.Arg580=) c.6061G>T c.6519G>T (p.Arg2173=) c.705-529G>T (n.705-529G>T) c.3841G>T c.6243G>T (p.Arg2081=) c.5955G>T (p.Arg1985=) c.3483G>T (p.Arg1161=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733069G>A | CA9385709 | KMT2B | n.826G>A c.6454G>A (p.Val2152Met) c.4061G>A (n.4061G>A) c.1738G>A (p.Val580Met) n.1673G>A c.1741G>A (p.Val581Met) c.6062G>A c.6520G>A (p.Val2174Met) c.705-528G>A (n.705-528G>A) c.3842G>A c.6244G>A (p.Val2082Met) c.5956G>A (p.Val1986Met) c.3484G>A (p.Val1162Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733069G>C | CA405429037 | KMT2B | n.826G>C c.6454G>C (p.Val2152Leu) c.4061G>C (n.4061G>C) c.1738G>C (p.Val580Leu) n.1673G>C c.1741G>C (p.Val581Leu) c.6062G>C c.6520G>C (p.Val2174Leu) c.705-528G>C (n.705-528G>C) c.3842G>C c.6244G>C (p.Val2082Leu) c.5956G>C (p.Val1986Leu) c.3484G>C (p.Val1162Leu) | |
19 | g.35733069G= | CA2333794640 | KMT2B | n.826G= c.6454G= (p.Val2152=) c.4061G= (n.4061G=) c.1738G= (p.Val580=) n.1673G= c.1741G= (p.Val581=) c.6062G= c.6520G= (p.Val2174=) c.705-528G= (n.705-528G=) c.3842G= c.6244G= (p.Val2082=) c.5956G= (p.Val1986=) c.3484G= (p.Val1162=) | |
19 | g.35733069G>T | CA405429036 | KMT2B | n.826G>T c.6454G>T (p.Val2152Leu) c.4061G>T (n.4061G>T) c.1738G>T (p.Val580Leu) n.1673G>T c.1741G>T (p.Val581Leu) c.6062G>T c.6520G>T (p.Val2174Leu) c.705-528G>T (n.705-528G>T) c.3842G>T c.6244G>T (p.Val2082Leu) c.5956G>T (p.Val1986Leu) c.3484G>T (p.Val1162Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733070T>A | CA405429043 | KMT2B | n.827T>A c.6455T>A (p.Val2152Glu) c.4062T>A (n.4062T>A) c.1739T>A (p.Val580Glu) n.1674T>A c.1742T>A (p.Val581Glu) c.6063T>A c.6521T>A (p.Val2174Glu) c.705-527T>A (n.705-527T>A) c.3843T>A c.6245T>A (p.Val2082Glu) c.5957T>A (p.Val1986Glu) c.3485T>A (p.Val1162Glu) | |
19 | g.35733070T>C | CA405429046 | KMT2B | n.827T>C c.6455T>C (p.Val2152Ala) c.4062T>C (n.4062T>C) c.1739T>C (p.Val580Ala) n.1674T>C c.1742T>C (p.Val581Ala) c.6063T>C c.6521T>C (p.Val2174Ala) c.705-527T>C (n.705-527T>C) c.3843T>C c.6245T>C (p.Val2082Ala) c.5957T>C (p.Val1986Ala) c.3485T>C (p.Val1162Ala) | |
19 | g.35733070T>G | CA405429048 | KMT2B | n.827T>G c.6455T>G (p.Val2152Gly) c.4062T>G (n.4062T>G) c.1739T>G (p.Val580Gly) n.1674T>G c.1742T>G (p.Val581Gly) c.6063T>G c.6521T>G (p.Val2174Gly) c.705-527T>G (n.705-527T>G) c.3843T>G c.6245T>G (p.Val2082Gly) c.5957T>G (p.Val1986Gly) c.3485T>G (p.Val1162Gly) | gnomAD v4 |
19 | g.35733071G>A | CA507308387 | KMT2B | n.828G>A c.6456G>A (p.Val2152=) c.4063G>A (n.4063G>A) c.1740G>A (p.Val580=) n.1675G>A c.1743G>A (p.Val581=) c.6064G>A c.6522G>A (p.Val2174=) c.705-526G>A (n.705-526G>A) c.3844G>A c.6246G>A (p.Val2082=) c.5958G>A (p.Val1986=) c.3486G>A (p.Val1162=) | |
19 | g.35733071G>C | CA507308388 | KMT2B | n.828G>C c.6456G>C (p.Val2152=) c.4063G>C (n.4063G>C) c.1740G>C (p.Val580=) n.1675G>C c.1743G>C (p.Val581=) c.6064G>C c.6522G>C (p.Val2174=) c.705-526G>C (n.705-526G>C) c.3844G>C c.6246G>C (p.Val2082=) c.5958G>C (p.Val1986=) c.3486G>C (p.Val1162=) | |
19 | g.35733071G= | CA2333794641 | KMT2B | n.828G= c.6456G= (p.Val2152=) c.4063G= (n.4063G=) c.1740G= (p.Val580=) n.1675G= c.1743G= (p.Val581=) c.6064G= c.6522G= (p.Val2174=) c.705-526G= (n.705-526G=) c.3844G= c.6246G= (p.Val2082=) c.5958G= (p.Val1986=) c.3486G= (p.Val1162=) | |
19 | g.35733071G>T | CA507308390 | KMT2B | n.828G>T c.6456G>T (p.Val2152=) c.4063G>T (n.4063G>T) c.1740G>T (p.Val580=) n.1675G>T c.1743G>T (p.Val581=) c.6064G>T c.6522G>T (p.Val2174=) c.705-526G>T (n.705-526G>T) c.3844G>T c.6246G>T (p.Val2082=) c.5958G>T (p.Val1986=) c.3486G>T (p.Val1162=) | dbSNP COSMIC |
19 | g.35733072T>A | CA405429051 | KMT2B | n.829T>A c.6457T>A (p.Leu2153Ile) c.4064T>A (n.4064T>A) c.1741T>A (p.Leu581Ile) n.1676T>A c.1744T>A (p.Leu582Ile) c.6065T>A c.6523T>A (p.Leu2175Ile) c.705-525T>A (n.705-525T>A) c.3845T>A c.6247T>A (p.Leu2083Ile) c.5959T>A (p.Leu1987Ile) c.3487T>A (p.Leu1163Ile) | |
19 | g.35733072T>C | CA507308393 | KMT2B | n.829T>C c.6457T>C (p.Leu2153=) c.4064T>C (n.4064T>C) c.1741T>C (p.Leu581=) n.1676T>C c.1744T>C (p.Leu582=) c.6065T>C c.6523T>C (p.Leu2175=) c.705-525T>C (n.705-525T>C) c.3845T>C c.6247T>C (p.Leu2083=) c.5959T>C (p.Leu1987=) c.3487T>C (p.Leu1163=) | |
19 | g.35733072T>G | CA405429052 | KMT2B | n.829T>G c.6457T>G (p.Leu2153Val) c.4064T>G (n.4064T>G) c.1741T>G (p.Leu581Val) n.1676T>G c.1744T>G (p.Leu582Val) c.6065T>G c.6523T>G (p.Leu2175Val) c.705-525T>G (n.705-525T>G) c.3845T>G c.6247T>G (p.Leu2083Val) c.5959T>G (p.Leu1987Val) c.3487T>G (p.Leu1163Val) | |
19 | g.35733073T>A | CA405429056 | KMT2B | n.830T>A c.6458T>A (p.Leu2153Ter) c.4065T>A (n.4065T>A) c.1742T>A (p.Leu581Ter) n.1677T>A c.1745T>A (p.Leu582Ter) c.6066T>A c.6524T>A (p.Leu2175Ter) c.705-524T>A (n.705-524T>A) c.3846T>A c.6248T>A (p.Leu2083Ter) c.5960T>A (p.Leu1987Ter) c.3488T>A (p.Leu1163Ter) | |
19 | g.35733073T>C | CA9385710 | KMT2B | n.830T>C c.6458T>C (p.Leu2153Ser) c.4065T>C (n.4065T>C) c.1742T>C (p.Leu581Ser) n.1677T>C c.1745T>C (p.Leu582Ser) c.6066T>C c.6524T>C (p.Leu2175Ser) c.705-524T>C (n.705-524T>C) c.3846T>C c.6248T>C (p.Leu2083Ser) c.5960T>C (p.Leu1987Ser) c.3488T>C (p.Leu1163Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35733073T>G | CA405429061 | KMT2B | n.830T>G c.6458T>G (p.Leu2153Ter) c.4065T>G (n.4065T>G) c.1742T>G (p.Leu581Ter) n.1677T>G c.1745T>G (p.Leu582Ter) c.6066T>G c.6524T>G (p.Leu2175Ter) c.705-524T>G (n.705-524T>G) c.3846T>G c.6248T>G (p.Leu2083Ter) c.5960T>G (p.Leu1987Ter) c.3488T>G (p.Leu1163Ter) | |
19 | g.35733073T= | CA2333794642 | KMT2B | n.830T= c.6458T= (p.Leu2153=) c.4065T= (n.4065T=) c.1742T= (p.Leu581=) n.1677T= c.1745T= (p.Leu582=) c.6066T= c.6524T= (p.Leu2175=) c.705-524T= (n.705-524T=) c.3846T= c.6248T= (p.Leu2083=) c.5960T= (p.Leu1987=) c.3488T= (p.Leu1163=) | |
19 | g.35733074A= | CA2333794643 | KMT2B | n.831A= c.6459A= (p.Leu2153=) c.4066A= (n.4066A=) c.1743A= (p.Leu581=) n.1678A= c.1746A= (p.Leu582=) c.6067A= c.6525A= (p.Leu2175=) c.705-523A= (n.705-523A=) c.3847A= c.6249A= (p.Leu2083=) c.5961A= (p.Leu1987=) c.3489A= (p.Leu1163=) | |
19 | g.35733074A>C | CA405429065 | KMT2B | n.831A>C c.6459A>C (p.Leu2153Phe) c.4066A>C (n.4066A>C) c.1743A>C (p.Leu581Phe) n.1678A>C c.1746A>C (p.Leu582Phe) c.6067A>C c.6525A>C (p.Leu2175Phe) c.705-523A>C (n.705-523A>C) c.3847A>C c.6249A>C (p.Leu2083Phe) c.5961A>C (p.Leu1987Phe) c.3489A>C (p.Leu1163Phe) | dbSNP gnomAD v4 |
19 | g.35733074A>G | CA507308398 | KMT2B | n.831A>G c.6459A>G (p.Leu2153=) c.4066A>G (n.4066A>G) c.1743A>G (p.Leu581=) n.1678A>G c.1746A>G (p.Leu582=) c.6067A>G c.6525A>G (p.Leu2175=) c.705-523A>G (n.705-523A>G) c.3847A>G c.6249A>G (p.Leu2083=) c.5961A>G (p.Leu1987=) c.3489A>G (p.Leu1163=) | |
19 | g.35733074A>T | CA405429067 | KMT2B | n.831A>T c.6459A>T (p.Leu2153Phe) c.4066A>T (n.4066A>T) c.1743A>T (p.Leu581Phe) n.1678A>T c.1746A>T (p.Leu582Phe) c.6067A>T c.6525A>T (p.Leu2175Phe) c.705-523A>T (n.705-523A>T) c.3847A>T c.6249A>T (p.Leu2083Phe) c.5961A>T (p.Leu1987Phe) c.3489A>T (p.Leu1163Phe) | |
19 | g.35733075A>C | CA405429071 | KMT2B | n.832A>C c.6460A>C (p.Ser2154Arg) c.4067A>C (n.4067A>C) c.1744A>C (p.Ser582Arg) n.1679A>C c.1747A>C (p.Ser583Arg) c.6068A>C c.6526A>C (p.Ser2176Arg) c.705-522A>C (n.705-522A>C) c.3848A>C c.6250A>C (p.Ser2084Arg) c.5962A>C (p.Ser1988Arg) c.3490A>C (p.Ser1164Arg) | |
19 | g.35733075A>G | CA405429074 | KMT2B | n.832A>G c.6460A>G (p.Ser2154Gly) c.4067A>G (n.4067A>G) c.1744A>G (p.Ser582Gly) n.1679A>G c.1747A>G (p.Ser583Gly) c.6068A>G c.6526A>G (p.Ser2176Gly) c.705-522A>G (n.705-522A>G) c.3848A>G c.6250A>G (p.Ser2084Gly) c.5962A>G (p.Ser1988Gly) c.3490A>G (p.Ser1164Gly) | |
19 | g.35733075A>T | CA405429076 | KMT2B | n.832A>T c.6460A>T (p.Ser2154Cys) c.4067A>T (n.4067A>T) c.1744A>T (p.Ser582Cys) n.1679A>T c.1747A>T (p.Ser583Cys) c.6068A>T c.6526A>T (p.Ser2176Cys) c.705-522A>T (n.705-522A>T) c.3848A>T c.6250A>T (p.Ser2084Cys) c.5962A>T (p.Ser1988Cys) c.3490A>T (p.Ser1164Cys) | |
19 | g.35733076G>A | CA405429083 | KMT2B | n.833G>A c.6461G>A (p.Ser2154Asn) c.4068G>A (n.4068G>A) c.1745G>A (p.Ser582Asn) n.1680G>A c.1748G>A (p.Ser583Asn) c.6069G>A c.6527G>A (p.Ser2176Asn) c.705-521G>A (n.705-521G>A) c.3849G>A c.6251G>A (p.Ser2084Asn) c.5963G>A (p.Ser1988Asn) c.3491G>A (p.Ser1164Asn) | |
19 | g.35733076G>C | CA405429087 | KMT2B | n.833G>C c.6461G>C (p.Ser2154Thr) c.4068G>C (n.4068G>C) c.1745G>C (p.Ser582Thr) n.1680G>C c.1748G>C (p.Ser583Thr) c.6069G>C c.6527G>C (p.Ser2176Thr) c.705-521G>C (n.705-521G>C) c.3849G>C c.6251G>C (p.Ser2084Thr) c.5963G>C (p.Ser1988Thr) c.3491G>C (p.Ser1164Thr) | |
19 | g.35733076G>T | CA405429081 | KMT2B | n.833G>T c.6461G>T (p.Ser2154Ile) c.4068G>T (n.4068G>T) c.1745G>T (p.Ser582Ile) n.1680G>T c.1748G>T (p.Ser583Ile) c.6069G>T c.6527G>T (p.Ser2176Ile) c.705-521G>T (n.705-521G>T) c.3849G>T c.6251G>T (p.Ser2084Ile) c.5963G>T (p.Ser1988Ile) c.3491G>T (p.Ser1164Ile) | |
19 | g.35733077C>A | CA405429090 | KMT2B | n.834C>A c.6462C>A (p.Ser2154Arg) c.4069C>A (n.4069C>A) c.1746C>A (p.Ser582Arg) n.1681C>A c.1749C>A (p.Ser583Arg) c.6070C>A c.6528C>A (p.Ser2176Arg) c.705-520C>A (n.705-520C>A) c.3850C>A c.6252C>A (p.Ser2084Arg) c.5964C>A (p.Ser1988Arg) c.3492C>A (p.Ser1164Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35733077C= | CA2333794644 | KMT2B | n.834C= c.6462C= (p.Ser2154=) c.4069C= (n.4069C=) c.1746C= (p.Ser582=) n.1681C= c.1749C= (p.Ser583=) c.6070C= c.6528C= (p.Ser2176=) c.705-520C= (n.705-520C=) c.3850C= c.6252C= (p.Ser2084=) c.5964C= (p.Ser1988=) c.3492C= (p.Ser1164=) | |
19 | g.35733077C>G | CA405429093 | KMT2B | n.834C>G c.6462C>G (p.Ser2154Arg) c.4069C>G (n.4069C>G) c.1746C>G (p.Ser582Arg) n.1681C>G c.1749C>G (p.Ser583Arg) c.6070C>G c.6528C>G (p.Ser2176Arg) c.705-520C>G (n.705-520C>G) c.3850C>G c.6252C>G (p.Ser2084Arg) c.5964C>G (p.Ser1988Arg) c.3492C>G (p.Ser1164Arg) | ClinVar dbSNP gnomAD v4 |
19 | g.35733077C>T | CA507308405 | KMT2B | n.834C>T c.6462C>T (p.Ser2154=) c.4069C>T (n.4069C>T) c.1746C>T (p.Ser582=) n.1681C>T c.1749C>T (p.Ser583=) c.6070C>T c.6528C>T (p.Ser2176=) c.705-520C>T (n.705-520C>T) c.3850C>T c.6252C>T (p.Ser2084=) c.5964C>T (p.Ser1988=) c.3492C>T (p.Ser1164=) | gnomAD v4 |
19 | g.35733078C>A | CA405429096 | KMT2B | n.835C>A c.6463C>A (p.Leu2155Ile) c.4070C>A (n.4070C>A) c.1747C>A (p.Leu583Ile) n.1682C>A c.1750C>A (p.Leu584Ile) c.6071C>A c.6529C>A (p.Leu2177Ile) c.705-519C>A (n.705-519C>A) c.3851C>A c.6253C>A (p.Leu2085Ile) c.5965C>A (p.Leu1989Ile) c.3493C>A (p.Leu1165Ile) | |
19 | g.35733078C>G | CA405429099 | KMT2B | n.835C>G c.6463C>G (p.Leu2155Val) c.4070C>G (n.4070C>G) c.1747C>G (p.Leu583Val) n.1682C>G c.1750C>G (p.Leu584Val) c.6071C>G c.6529C>G (p.Leu2177Val) c.705-519C>G (n.705-519C>G) c.3851C>G c.6253C>G (p.Leu2085Val) c.5965C>G (p.Leu1989Val) c.3493C>G (p.Leu1165Val) | gnomAD v4 |
19 | g.35733078C>T | CA405429103 | KMT2B | n.835C>T c.6463C>T (p.Leu2155Phe) c.4070C>T (n.4070C>T) c.1747C>T (p.Leu583Phe) n.1682C>T c.1750C>T (p.Leu584Phe) c.6071C>T c.6529C>T (p.Leu2177Phe) c.705-519C>T (n.705-519C>T) c.3851C>T c.6253C>T (p.Leu2085Phe) c.5965C>T (p.Leu1989Phe) c.3493C>T (p.Leu1165Phe) | |
19 | g.35733079T>A | CA405429107 | KMT2B | n.836T>A c.6464T>A (p.Leu2155His) c.4071T>A (n.4071T>A) c.1748T>A (p.Leu583His) n.1683T>A c.1751T>A (p.Leu584His) c.6072T>A c.6530T>A (p.Leu2177His) c.705-518T>A (n.705-518T>A) c.3852T>A c.6254T>A (p.Leu2085His) c.5966T>A (p.Leu1989His) c.3494T>A (p.Leu1165His) | |
19 | g.35733079T>C | CA405429109 | KMT2B | n.836T>C c.6464T>C (p.Leu2155Pro) c.4071T>C (n.4071T>C) c.1748T>C (p.Leu583Pro) n.1683T>C c.1751T>C (p.Leu584Pro) c.6072T>C c.6530T>C (p.Leu2177Pro) c.705-518T>C (n.705-518T>C) c.3852T>C c.6254T>C (p.Leu2085Pro) c.5966T>C (p.Leu1989Pro) c.3494T>C (p.Leu1165Pro) | |
19 | g.35733079T>G | CA405429112 | KMT2B | n.836T>G c.6464T>G (p.Leu2155Arg) c.4071T>G (n.4071T>G) c.1748T>G (p.Leu583Arg) n.1683T>G c.1751T>G (p.Leu584Arg) c.6072T>G c.6530T>G (p.Leu2177Arg) c.705-518T>G (n.705-518T>G) c.3852T>G c.6254T>G (p.Leu2085Arg) c.5966T>G (p.Leu1989Arg) c.3494T>G (p.Leu1165Arg) | |
19 | g.35733080T>A | CA507308411 | KMT2B | n.837T>A c.6465T>A (p.Leu2155=) c.4072T>A (n.4072T>A) c.1749T>A (p.Leu583=) n.1684T>A c.1752T>A (p.Leu584=) c.6073T>A c.6531T>A (p.Leu2177=) c.705-517T>A (n.705-517T>A) c.3853T>A c.6255T>A (p.Leu2085=) c.5967T>A (p.Leu1989=) c.3495T>A (p.Leu1165=) | |
19 | g.35733080T>C | CA507308419 | KMT2B | n.837T>C c.6465T>C (p.Leu2155=) c.4072T>C (n.4072T>C) c.1749T>C (p.Leu583=) n.1684T>C c.1752T>C (p.Leu584=) c.6073T>C c.6531T>C (p.Leu2177=) c.705-517T>C (n.705-517T>C) c.3853T>C c.6255T>C (p.Leu2085=) c.5967T>C (p.Leu1989=) c.3495T>C (p.Leu1165=) | |
19 | g.35733080T>G | CA507308416 | KMT2B | n.837T>G c.6465T>G (p.Leu2155=) c.4072T>G (n.4072T>G) c.1749T>G (p.Leu583=) n.1684T>G c.1752T>G (p.Leu584=) c.6073T>G c.6531T>G (p.Leu2177=) c.705-517T>G (n.705-517T>G) c.3853T>G c.6255T>G (p.Leu2085=) c.5967T>G (p.Leu1989=) c.3495T>G (p.Leu1165=) | |
19 | g.35733081G>A | CA405429116 | KMT2B | n.838G>A c.6466G>A (p.Gly2156Ser) c.4073G>A (n.4073G>A) c.1750G>A (p.Gly584Ser) n.1685G>A c.1753G>A (p.Gly585Ser) c.6074G>A c.6532G>A (p.Gly2178Ser) c.705-516G>A (n.705-516G>A) c.3854G>A c.6256G>A (p.Gly2086Ser) c.5968G>A (p.Gly1990Ser) c.3496G>A (p.Gly1166Ser) | |
19 | g.35733081G>C | CA405429118 | KMT2B | n.838G>C c.6466G>C (p.Gly2156Arg) c.4073G>C (n.4073G>C) c.1750G>C (p.Gly584Arg) n.1685G>C c.1753G>C (p.Gly585Arg) c.6074G>C c.6532G>C (p.Gly2178Arg) c.705-516G>C (n.705-516G>C) c.3854G>C c.6256G>C (p.Gly2086Arg) c.5968G>C (p.Gly1990Arg) c.3496G>C (p.Gly1166Arg) | |
19 | g.35733081G>T | CA405429121 | KMT2B | n.838G>T c.6466G>T (p.Gly2156Cys) c.4073G>T (n.4073G>T) c.1750G>T (p.Gly584Cys) n.1685G>T c.1753G>T (p.Gly585Cys) c.6074G>T c.6532G>T (p.Gly2178Cys) c.705-516G>T (n.705-516G>T) c.3854G>T c.6256G>T (p.Gly2086Cys) c.5968G>T (p.Gly1990Cys) c.3496G>T (p.Gly1166Cys) | |
19 | g.35733082G>A | CA9385711 | KMT2B | n.839G>A c.6467G>A (p.Gly2156Asp) c.4074G>A (n.4074G>A) c.1751G>A (p.Gly584Asp) n.1686G>A c.1754G>A (p.Gly585Asp) c.6075G>A c.6533G>A (p.Gly2178Asp) c.705-515G>A (n.705-515G>A) c.3855G>A c.6257G>A (p.Gly2086Asp) c.5969G>A (p.Gly1990Asp) c.3497G>A (p.Gly1166Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35733082G>C | CA307796945 | KMT2B | n.839G>C c.6467G>C (p.Gly2156Ala) c.4074G>C (n.4074G>C) c.1751G>C (p.Gly584Ala) n.1686G>C c.1754G>C (p.Gly585Ala) c.6075G>C c.6533G>C (p.Gly2178Ala) c.705-515G>C (n.705-515G>C) c.3855G>C c.6257G>C (p.Gly2086Ala) c.5969G>C (p.Gly1990Ala) c.3497G>C (p.Gly1166Ala) | dbSNP |
19 | g.35733082G= | CA2333794645 | KMT2B | n.839G= c.6467G= (p.Gly2156=) c.4074G= (n.4074G=) c.1751G= (p.Gly584=) n.1686G= c.1754G= (p.Gly585=) c.6075G= c.6533G= (p.Gly2178=) c.705-515G= (n.705-515G=) c.3855G= c.6257G= (p.Gly2086=) c.5969G= (p.Gly1990=) c.3497G= (p.Gly1166=) | |
19 | g.35733082G>T | CA405429122 | KMT2B | n.839G>T c.6467G>T (p.Gly2156Val) c.4074G>T (n.4074G>T) c.1751G>T (p.Gly584Val) n.1686G>T c.1754G>T (p.Gly585Val) c.6075G>T c.6533G>T (p.Gly2178Val) c.705-515G>T (n.705-515G>T) c.3855G>T c.6257G>T (p.Gly2086Val) c.5969G>T (p.Gly1990Val) c.3497G>T (p.Gly1166Val) | |
19 | g.35733083C>A | CA507308428 | KMT2B | n.840C>A c.6468C>A (p.Gly2156=) c.4075C>A (n.4075C>A) c.1752C>A (p.Gly584=) n.1687C>A c.1755C>A (p.Gly585=) c.6076C>A c.6534C>A (p.Gly2178=) c.705-514C>A (n.705-514C>A) c.3856C>A c.6258C>A (p.Gly2086=) c.5970C>A (p.Gly1990=) c.3498C>A (p.Gly1166=) | gnomAD v4 |
19 | g.35733083C>G | CA507308430 | KMT2B | n.840C>G c.6468C>G (p.Gly2156=) c.4075C>G (n.4075C>G) c.1752C>G (p.Gly584=) n.1687C>G c.1755C>G (p.Gly585=) c.6076C>G c.6534C>G (p.Gly2178=) c.705-514C>G (n.705-514C>G) c.3856C>G c.6258C>G (p.Gly2086=) c.5970C>G (p.Gly1990=) c.3498C>G (p.Gly1166=) | |
19 | g.35733083C>T | CA507308432 | KMT2B | n.840C>T c.6468C>T (p.Gly2156=) c.4075C>T (n.4075C>T) c.1752C>T (p.Gly584=) n.1687C>T c.1755C>T (p.Gly585=) c.6076C>T c.6534C>T (p.Gly2178=) c.705-514C>T (n.705-514C>T) c.3856C>T c.6258C>T (p.Gly2086=) c.5970C>T (p.Gly1990=) c.3498C>T (p.Gly1166=) | gnomAD v4 |
19 | g.35733084C>A | CA405429129 | KMT2B | n.841C>A c.6469C>A (p.Pro2157Thr) c.4076C>A (n.4076C>A) c.1753C>A (p.Pro585Thr) n.1688C>A c.1756C>A (p.Pro586Thr) c.6077C>A c.6535C>A (p.Pro2179Thr) c.705-513C>A (n.705-513C>A) c.3857C>A c.6259C>A (p.Pro2087Thr) c.5971C>A (p.Pro1991Thr) c.3499C>A (p.Pro1167Thr) | dbSNP gnomAD v4 |
19 | g.35733084C= | CA2333794646 | KMT2B | n.841C= c.6469C= (p.Pro2157=) c.4076C= (n.4076C=) c.1753C= (p.Pro585=) n.1688C= c.1756C= (p.Pro586=) c.6077C= c.6535C= (p.Pro2179=) c.705-513C= (n.705-513C=) c.3857C= c.6259C= (p.Pro2087=) c.5971C= (p.Pro1991=) c.3499C= (p.Pro1167=) | |
19 | g.35733084C>G | CA405429126 | KMT2B | n.841C>G c.6469C>G (p.Pro2157Ala) c.4076C>G (n.4076C>G) c.1753C>G (p.Pro585Ala) n.1688C>G c.1756C>G (p.Pro586Ala) c.6077C>G c.6535C>G (p.Pro2179Ala) c.705-513C>G (n.705-513C>G) c.3857C>G c.6259C>G (p.Pro2087Ala) c.5971C>G (p.Pro1991Ala) c.3499C>G (p.Pro1167Ala) | dbSNP |
19 | g.35733084C>T | CA9385712 | KMT2B | n.841C>T c.6469C>T (p.Pro2157Ser) c.4076C>T (n.4076C>T) c.1753C>T (p.Pro585Ser) n.1688C>T c.1756C>T (p.Pro586Ser) c.6077C>T c.6535C>T (p.Pro2179Ser) c.705-513C>T (n.705-513C>T) c.3857C>T c.6259C>T (p.Pro2087Ser) c.5971C>T (p.Pro1991Ser) c.3499C>T (p.Pro1167Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35733085C>A | CA405429133 | KMT2B | n.842C>A c.6470C>A (p.Pro2157His) c.4077C>A (n.4077C>A) c.1754C>A (p.Pro585His) n.1689C>A c.1757C>A (p.Pro586His) c.6078C>A c.6536C>A (p.Pro2179His) c.705-512C>A (n.705-512C>A) c.3858C>A c.6260C>A (p.Pro2087His) c.5972C>A (p.Pro1991His) c.3500C>A (p.Pro1167His) | gnomAD v4 |
19 | g.35733085C>G | CA405429138 | KMT2B | n.842C>G c.6470C>G (p.Pro2157Arg) c.4077C>G (n.4077C>G) c.1754C>G (p.Pro585Arg) n.1689C>G c.1757C>G (p.Pro586Arg) c.6078C>G c.6536C>G (p.Pro2179Arg) c.705-512C>G (n.705-512C>G) c.3858C>G c.6260C>G (p.Pro2087Arg) c.5972C>G (p.Pro1991Arg) c.3500C>G (p.Pro1167Arg) | gnomAD v4 |
19 | g.35733085C>T | CA405429141 | KMT2B | n.842C>T c.6470C>T (p.Pro2157Leu) c.4077C>T (n.4077C>T) c.1754C>T (p.Pro585Leu) n.1689C>T c.1757C>T (p.Pro586Leu) c.6078C>T c.6536C>T (p.Pro2179Leu) c.705-512C>T (n.705-512C>T) c.3858C>T c.6260C>T (p.Pro2087Leu) c.5972C>T (p.Pro1991Leu) c.3500C>T (p.Pro1167Leu) | |
19 | g.35733086T>A | CA507308444 | KMT2B | n.843T>A c.6471T>A (p.Pro2157=) c.4078T>A (n.4078T>A) c.1755T>A (p.Pro585=) n.1690T>A c.1758T>A (p.Pro586=) c.6079T>A c.6537T>A (p.Pro2179=) c.705-511T>A (n.705-511T>A) c.3859T>A c.6261T>A (p.Pro2087=) c.5973T>A (p.Pro1991=) c.3501T>A (p.Pro1167=) | |
19 | g.35733086T>C | CA507308446 | KMT2B | n.843T>C c.6471T>C (p.Pro2157=) c.4078T>C (n.4078T>C) c.1755T>C (p.Pro585=) n.1690T>C c.1758T>C (p.Pro586=) c.6079T>C c.6537T>C (p.Pro2179=) c.705-511T>C (n.705-511T>C) c.3859T>C c.6261T>C (p.Pro2087=) c.5973T>C (p.Pro1991=) c.3501T>C (p.Pro1167=) | dbSNP |
19 | g.35733086T>G | CA9385713 | KMT2B | n.843T>G c.6471T>G (p.Pro2157=) c.4078T>G (n.4078T>G) c.1755T>G (p.Pro585=) n.1690T>G c.1758T>G (p.Pro586=) c.6079T>G c.6537T>G (p.Pro2179=) c.705-511T>G (n.705-511T>G) c.3859T>G c.6261T>G (p.Pro2087=) c.5973T>G (p.Pro1991=) c.3501T>G (p.Pro1167=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733086T= | CA2333794647 | KMT2B | n.843T= c.6471T= (p.Pro2157=) c.4078T= (n.4078T=) c.1755T= (p.Pro585=) n.1690T= c.1758T= (p.Pro586=) c.6079T= c.6537T= (p.Pro2179=) c.705-511T= (n.705-511T=) c.3859T= c.6261T= (p.Pro2087=) c.5973T= (p.Pro1991=) c.3501T= (p.Pro1167=) | |
19 | g.35733087G>A | CA405429147 | KMT2B | n.844G>A c.6472G>A (p.Ala2158Thr) c.4079G>A (n.4079G>A) c.1756G>A (p.Ala586Thr) n.1691G>A c.1759G>A (p.Ala587Thr) c.6080G>A c.6538G>A (p.Ala2180Thr) c.705-510G>A (n.705-510G>A) c.3860G>A c.6262G>A (p.Ala2088Thr) c.5974G>A (p.Ala1992Thr) c.3502G>A (p.Ala1168Thr) | ClinVar dbSNP gnomAD v4 |
19 | g.35733087G>C | CA307796959 | KMT2B | n.844G>C c.6472G>C (p.Ala2158Pro) c.4079G>C (n.4079G>C) c.1756G>C (p.Ala586Pro) n.1691G>C c.1759G>C (p.Ala587Pro) c.6080G>C c.6538G>C (p.Ala2180Pro) c.705-510G>C (n.705-510G>C) c.3860G>C c.6262G>C (p.Ala2088Pro) c.5974G>C (p.Ala1992Pro) c.3502G>C (p.Ala1168Pro) | dbSNP COSMIC |
19 | g.35733087G= | CA2333794648 | KMT2B | n.844G= c.6472G= (p.Ala2158=) c.4079G= (n.4079G=) c.1756G= (p.Ala586=) n.1691G= c.1759G= (p.Ala587=) c.6080G= c.6538G= (p.Ala2180=) c.705-510G= (n.705-510G=) c.3860G= c.6262G= (p.Ala2088=) c.5974G= (p.Ala1992=) c.3502G= (p.Ala1168=) | |
19 | g.35733087G>T | CA405429150 | KMT2B | n.844G>T c.6472G>T (p.Ala2158Ser) c.4079G>T (n.4079G>T) c.1756G>T (p.Ala586Ser) n.1691G>T c.1759G>T (p.Ala587Ser) c.6080G>T c.6538G>T (p.Ala2180Ser) c.705-510G>T (n.705-510G>T) c.3860G>T c.6262G>T (p.Ala2088Ser) c.5974G>T (p.Ala1992Ser) c.3502G>T (p.Ala1168Ser) | gnomAD v4 |
19 | g.35733088C>A | CA405429154 | KMT2B | n.845C>A c.6473C>A (p.Ala2158Asp) c.4080C>A (n.4080C>A) c.1757C>A (p.Ala586Asp) n.1692C>A c.1760C>A (p.Ala587Asp) c.6081C>A c.6539C>A (p.Ala2180Asp) c.705-509C>A (n.705-509C>A) c.3861C>A c.6263C>A (p.Ala2088Asp) c.5975C>A (p.Ala1992Asp) c.3503C>A (p.Ala1168Asp) | |
19 | g.35733088C= | CA2333794649 | KMT2B | n.845C= c.6473C= (p.Ala2158=) c.4080C= (n.4080C=) c.1757C= (p.Ala586=) n.1692C= c.1760C= (p.Ala587=) c.6081C= c.6539C= (p.Ala2180=) c.705-509C= (n.705-509C=) c.3861C= c.6263C= (p.Ala2088=) c.5975C= (p.Ala1992=) c.3503C= (p.Ala1168=) | |
19 | g.35733088C>G | CA405429162 | KMT2B | n.845C>G c.6473C>G (p.Ala2158Gly) c.4080C>G (n.4080C>G) c.1757C>G (p.Ala586Gly) n.1692C>G c.1760C>G (p.Ala587Gly) c.6081C>G c.6539C>G (p.Ala2180Gly) c.705-509C>G (n.705-509C>G) c.3861C>G c.6263C>G (p.Ala2088Gly) c.5975C>G (p.Ala1992Gly) c.3503C>G (p.Ala1168Gly) | |
19 | g.35733088C>T | CA307796964 | KMT2B | n.845C>T c.6473C>T (p.Ala2158Val) c.4080C>T (n.4080C>T) c.1757C>T (p.Ala586Val) n.1692C>T c.1760C>T (p.Ala587Val) c.6081C>T c.6539C>T (p.Ala2180Val) c.705-509C>T (n.705-509C>T) c.3861C>T c.6263C>T (p.Ala2088Val) c.5975C>T (p.Ala1992Val) c.3503C>T (p.Ala1168Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733089C>A | CA507308458 | KMT2B | n.846C>A c.6474C>A (p.Ala2158=) c.4081C>A (n.4081C>A) c.1758C>A (p.Ala586=) n.1693C>A c.1761C>A (p.Ala587=) c.6082C>A c.6540C>A (p.Ala2180=) c.705-508C>A (n.705-508C>A) c.3862C>A c.6264C>A (p.Ala2088=) c.5976C>A (p.Ala1992=) c.3504C>A (p.Ala1168=) | |
19 | g.35733089C= | CA2333794650 | KMT2B | n.846C= c.6474C= (p.Ala2158=) c.4081C= (n.4081C=) c.1758C= (p.Ala586=) n.1693C= c.1761C= (p.Ala587=) c.6082C= c.6540C= (p.Ala2180=) c.705-508C= (n.705-508C=) c.3862C= c.6264C= (p.Ala2088=) c.5976C= (p.Ala1992=) c.3504C= (p.Ala1168=) | |
19 | g.35733089C>G | CA307796966 | KMT2B | n.846C>G c.6474C>G (p.Ala2158=) c.4081C>G (n.4081C>G) c.1758C>G (p.Ala586=) n.1693C>G c.1761C>G (p.Ala587=) c.6082C>G c.6540C>G (p.Ala2180=) c.705-508C>G (n.705-508C>G) c.3862C>G c.6264C>G (p.Ala2088=) c.5976C>G (p.Ala1992=) c.3504C>G (p.Ala1168=) | dbSNP |
19 | g.35733089C>T | CA507308457 | KMT2B | n.846C>T c.6474C>T (p.Ala2158=) c.4081C>T (n.4081C>T) c.1758C>T (p.Ala586=) n.1693C>T c.1761C>T (p.Ala587=) c.6082C>T c.6540C>T (p.Ala2180=) c.705-508C>T (n.705-508C>T) c.3862C>T c.6264C>T (p.Ala2088=) c.5976C>T (p.Ala1992=) c.3504C>T (p.Ala1168=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.35733090C>A | CA405429169 | KMT2B | n.847C>A c.6475C>A (p.Pro2159Thr) c.4082C>A (n.4082C>A) c.1759C>A (p.Pro587Thr) n.1694C>A c.1762C>A (p.Pro588Thr) c.6083C>A c.6541C>A (p.Pro2181Thr) c.705-507C>A (n.705-507C>A) c.3863C>A c.6265C>A (p.Pro2089Thr) c.5977C>A (p.Pro1993Thr) c.3505C>A (p.Pro1169Thr) | |
19 | g.35733090C>G | CA405429170 | KMT2B | n.847C>G c.6475C>G (p.Pro2159Ala) c.4082C>G (n.4082C>G) c.1759C>G (p.Pro587Ala) n.1694C>G c.1762C>G (p.Pro588Ala) c.6083C>G c.6541C>G (p.Pro2181Ala) c.705-507C>G (n.705-507C>G) c.3863C>G c.6265C>G (p.Pro2089Ala) c.5977C>G (p.Pro1993Ala) c.3505C>G (p.Pro1169Ala) | |
19 | g.35733090C>T | CA405429172 | KMT2B | n.847C>T c.6475C>T (p.Pro2159Ser) c.4082C>T (n.4082C>T) c.1759C>T (p.Pro587Ser) n.1694C>T c.1762C>T (p.Pro588Ser) c.6083C>T c.6541C>T (p.Pro2181Ser) c.705-507C>T (n.705-507C>T) c.3863C>T c.6265C>T (p.Pro2089Ser) c.5977C>T (p.Pro1993Ser) c.3505C>T (p.Pro1169Ser) | |
19 | g.35733091C>A | CA405429181 | KMT2B | n.848C>A c.6476C>A (p.Pro2159His) c.4083C>A (n.4083C>A) c.1760C>A (p.Pro587His) n.1695C>A c.1763C>A (p.Pro588His) c.6084C>A c.6542C>A (p.Pro2181His) c.705-506C>A (n.705-506C>A) c.3864C>A c.6266C>A (p.Pro2089His) c.5978C>A (p.Pro1993His) c.3506C>A (p.Pro1169His) | |
19 | g.35733091C>G | CA405429179 | KMT2B | n.848C>G c.6476C>G (p.Pro2159Arg) c.4083C>G (n.4083C>G) c.1760C>G (p.Pro587Arg) n.1695C>G c.1763C>G (p.Pro588Arg) c.6084C>G c.6542C>G (p.Pro2181Arg) c.705-506C>G (n.705-506C>G) c.3864C>G c.6266C>G (p.Pro2089Arg) c.5978C>G (p.Pro1993Arg) c.3506C>G (p.Pro1169Arg) | |
19 | g.35733091C>T | CA405429177 | KMT2B | n.848C>T c.6476C>T (p.Pro2159Leu) c.4083C>T (n.4083C>T) c.1760C>T (p.Pro587Leu) n.1695C>T c.1763C>T (p.Pro588Leu) c.6084C>T c.6542C>T (p.Pro2181Leu) c.705-506C>T (n.705-506C>T) c.3864C>T c.6266C>T (p.Pro2089Leu) c.5978C>T (p.Pro1993Leu) c.3506C>T (p.Pro1169Leu) | gnomAD v4 |
19 | g.35733092T>A | CA507308469 | KMT2B | n.849T>A c.6477T>A (p.Pro2159=) c.4084T>A (n.4084T>A) c.1761T>A (p.Pro587=) n.1696T>A c.1764T>A (p.Pro588=) c.6085T>A c.6543T>A (p.Pro2181=) c.705-505T>A (n.705-505T>A) c.3865T>A c.6267T>A (p.Pro2089=) c.5979T>A (p.Pro1993=) c.3507T>A (p.Pro1169=) | dbSNP |
19 | g.35733092T>C | CA507308471 | KMT2B | n.849T>C c.6477T>C (p.Pro2159=) c.4084T>C (n.4084T>C) c.1761T>C (p.Pro587=) n.1696T>C c.1764T>C (p.Pro588=) c.6085T>C c.6543T>C (p.Pro2181=) c.705-505T>C (n.705-505T>C) c.3865T>C c.6267T>C (p.Pro2089=) c.5979T>C (p.Pro1993=) c.3507T>C (p.Pro1169=) | |
19 | g.35733092T>G | CA507308472 | KMT2B | n.849T>G c.6477T>G (p.Pro2159=) c.4084T>G (n.4084T>G) c.1761T>G (p.Pro587=) n.1696T>G c.1764T>G (p.Pro588=) c.6085T>G c.6543T>G (p.Pro2181=) c.705-505T>G (n.705-505T>G) c.3865T>G c.6267T>G (p.Pro2089=) c.5979T>G (p.Pro1993=) c.3507T>G (p.Pro1169=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35733092T= | CA2333794651 | KMT2B | n.849T= c.6477T= (p.Pro2159=) c.4084T= (n.4084T=) c.1761T= (p.Pro587=) n.1696T= c.1764T= (p.Pro588=) c.6085T= c.6543T= (p.Pro2181=) c.705-505T= (n.705-505T=) c.3865T= c.6267T= (p.Pro2089=) c.5979T= (p.Pro1993=) c.3507T= (p.Pro1169=) | |
19 | g.35733093G>A | CA405429191 | KMT2B | n.850G>A c.6478G>A (p.Glu2160Lys) c.4085G>A (n.4085G>A) c.1762G>A (p.Glu588Lys) n.1697G>A c.1765G>A (p.Glu589Lys) c.6086G>A c.6544G>A (p.Glu2182Lys) c.705-504G>A (n.705-504G>A) c.3866G>A c.6268G>A (p.Glu2090Lys) c.5980G>A (p.Glu1994Lys) c.3508G>A (p.Glu1170Lys) | |
19 | g.35733093G>C | CA405429186 | KMT2B | n.850G>C c.6478G>C (p.Glu2160Gln) c.4085G>C (n.4085G>C) c.1762G>C (p.Glu588Gln) n.1697G>C c.1765G>C (p.Glu589Gln) c.6086G>C c.6544G>C (p.Glu2182Gln) c.705-504G>C (n.705-504G>C) c.3866G>C c.6268G>C (p.Glu2090Gln) c.5980G>C (p.Glu1994Gln) c.3508G>C (p.Glu1170Gln) | |
19 | g.35733093G>T | CA405429188 | KMT2B | n.850G>T c.6478G>T (p.Glu2160Ter) c.4085G>T (n.4085G>T) c.1762G>T (p.Glu588Ter) n.1697G>T c.1765G>T (p.Glu589Ter) c.6086G>T c.6544G>T (p.Glu2182Ter) c.705-504G>T (n.705-504G>T) c.3866G>T c.6268G>T (p.Glu2090Ter) c.5980G>T (p.Glu1994Ter) c.3508G>T (p.Glu1170Ter) | |
19 | g.35733094A>C | CA405429193 | KMT2B | n.851A>C c.6479A>C (p.Glu2160Ala) c.4086A>C (n.4086A>C) c.1763A>C (p.Glu588Ala) n.1698A>C c.1766A>C (p.Glu589Ala) c.6087A>C c.6545A>C (p.Glu2182Ala) c.705-503A>C (n.705-503A>C) c.3867A>C c.6269A>C (p.Glu2090Ala) c.5981A>C (p.Glu1994Ala) c.3509A>C (p.Glu1170Ala) | gnomAD v4 |
19 | g.35733094A>G | CA405429196 | KMT2B | n.851A>G c.6479A>G (p.Glu2160Gly) c.4086A>G (n.4086A>G) c.1763A>G (p.Glu588Gly) n.1698A>G c.1766A>G (p.Glu589Gly) c.6087A>G c.6545A>G (p.Glu2182Gly) c.705-503A>G (n.705-503A>G) c.3867A>G c.6269A>G (p.Glu2090Gly) c.5981A>G (p.Glu1994Gly) c.3509A>G (p.Glu1170Gly) | |
19 | g.35733094A>T | CA405429199 | KMT2B | n.851A>T c.6479A>T (p.Glu2160Val) c.4086A>T (n.4086A>T) c.1763A>T (p.Glu588Val) n.1698A>T c.1766A>T (p.Glu589Val) c.6087A>T c.6545A>T (p.Glu2182Val) c.705-503A>T (n.705-503A>T) c.3867A>T c.6269A>T (p.Glu2090Val) c.5981A>T (p.Glu1994Val) c.3509A>T (p.Glu1170Val) | |
19 | g.35733095G>A | CA507308484 | KMT2B | n.852G>A c.6480G>A (p.Glu2160=) c.4087G>A (n.4087G>A) c.1764G>A (p.Glu588=) n.1699G>A c.1767G>A (p.Glu589=) c.6088G>A c.6546G>A (p.Glu2182=) c.705-502G>A (n.705-502G>A) c.3868G>A c.6270G>A (p.Glu2090=) c.5982G>A (p.Glu1994=) c.3510G>A (p.Glu1170=) | |
19 | g.35733095G>C | CA9385715 | KMT2B | n.852G>C c.6480G>C (p.Glu2160Asp) c.4087G>C (n.4087G>C) c.1764G>C (p.Glu588Asp) n.1699G>C c.1767G>C (p.Glu589Asp) c.6088G>C c.6546G>C (p.Glu2182Asp) c.705-502G>C (n.705-502G>C) c.3868G>C c.6270G>C (p.Glu2090Asp) c.5982G>C (p.Glu1994Asp) c.3510G>C (p.Glu1170Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733095G= | CA2333794652 | KMT2B | n.852G= c.6480G= (p.Glu2160=) c.4087G= (n.4087G=) c.1764G= (p.Glu588=) n.1699G= c.1767G= (p.Glu589=) c.6088G= c.6546G= (p.Glu2182=) c.705-502G= (n.705-502G=) c.3868G= c.6270G= (p.Glu2090=) c.5982G= (p.Glu1994=) c.3510G= (p.Glu1170=) | |
19 | g.35733095G>T | CA405429206 | KMT2B | n.852G>T c.6480G>T (p.Glu2160Asp) c.4087G>T (n.4087G>T) c.1764G>T (p.Glu588Asp) n.1699G>T c.1767G>T (p.Glu589Asp) c.6088G>T c.6546G>T (p.Glu2182Asp) c.705-502G>T (n.705-502G>T) c.3868G>T c.6270G>T (p.Glu2090Asp) c.5982G>T (p.Glu1994Asp) c.3510G>T (p.Glu1170Asp) | |
19 | g.35733096C>A | CA9385716 | KMT2B | n.853C>A c.6481C>A (p.Pro2161Thr) c.4088C>A (n.4088C>A) c.1765C>A (p.Pro589Thr) n.1700C>A c.1768C>A (p.Pro590Thr) c.6089C>A c.6547C>A (p.Pro2183Thr) c.705-501C>A (n.705-501C>A) c.3869C>A c.6271C>A (p.Pro2091Thr) c.5983C>A (p.Pro1995Thr) c.3511C>A (p.Pro1171Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733096C= | CA2333794653 | KMT2B | n.853C= c.6481C= (p.Pro2161=) c.4088C= (n.4088C=) c.1765C= (p.Pro589=) n.1700C= c.1768C= (p.Pro590=) c.6089C= c.6547C= (p.Pro2183=) c.705-501C= (n.705-501C=) c.3869C= c.6271C= (p.Pro2091=) c.5983C= (p.Pro1995=) c.3511C= (p.Pro1171=) | |
19 | g.35733096C>G | CA405429216 | KMT2B | n.853C>G c.6481C>G (p.Pro2161Ala) c.4088C>G (n.4088C>G) c.1765C>G (p.Pro589Ala) n.1700C>G c.1768C>G (p.Pro590Ala) c.6089C>G c.6547C>G (p.Pro2183Ala) c.705-501C>G (n.705-501C>G) c.3869C>G c.6271C>G (p.Pro2091Ala) c.5983C>G (p.Pro1995Ala) c.3511C>G (p.Pro1171Ala) | |
19 | g.35733096C>T | CA405429214 | KMT2B | n.853C>T c.6481C>T (p.Pro2161Ser) c.4088C>T (n.4088C>T) c.1765C>T (p.Pro589Ser) n.1700C>T c.1768C>T (p.Pro590Ser) c.6089C>T c.6547C>T (p.Pro2183Ser) c.705-501C>T (n.705-501C>T) c.3869C>T c.6271C>T (p.Pro2091Ser) c.5983C>T (p.Pro1995Ser) c.3511C>T (p.Pro1171Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733101dup | CA9385714 | KMT2B | n.858dup c.6486dup (p.Lys2163GlnfsTer25) c.4093dup (n.4093dup) c.1770dup (p.Lys591GlnfsTer25) n.1705dup c.1773dup (p.Lys592GlnfsTer25) c.6094dup c.6552dup (p.Lys2185GlnfsTer25) c.705-496dup (n.705-496dup) c.3874dup c.6276dup (p.Lys2093GlnfsTer25) c.5988dup (p.Lys1997GlnfsTer25) c.3516dup (p.Lys1173GlnfsTer25) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733101del | CA2584575164 | KMT2B | n.858del c.6486del (p.Lys2163AsnfsTer18) c.4093del (n.4093del) c.1770del (p.Lys591AsnfsTer18) n.1705del c.1773del (p.Lys592AsnfsTer18) c.6094del c.6552del (p.Lys2185AsnfsTer18) c.705-496del (n.705-496del) c.3874del c.6276del (p.Lys2093AsnfsTer18) c.5988del (p.Lys1997AsnfsTer18) c.3516del (p.Lys1173AsnfsTer18) | gnomAD v4 |
19 | g.35733097C>A | CA307796996 | KMT2B | n.854C>A c.6482C>A (p.Pro2161His) c.4089C>A (n.4089C>A) c.1766C>A (p.Pro589His) n.1701C>A c.1769C>A (p.Pro590His) c.6090C>A c.6548C>A (p.Pro2183His) c.705-500C>A (n.705-500C>A) c.3870C>A c.6272C>A (p.Pro2091His) c.5984C>A (p.Pro1995His) c.3512C>A (p.Pro1171His) | dbSNP |
19 | g.35733097C= | CA2333794654 | KMT2B | n.854C= c.6482C= (p.Pro2161=) c.4089C= (n.4089C=) c.1766C= (p.Pro589=) n.1701C= c.1769C= (p.Pro590=) c.6090C= c.6548C= (p.Pro2183=) c.705-500C= (n.705-500C=) c.3870C= c.6272C= (p.Pro2091=) c.5984C= (p.Pro1995=) c.3512C= (p.Pro1171=) | |
19 | g.35733097C>G | CA405429225 | KMT2B | n.854C>G c.6482C>G (p.Pro2161Arg) c.4089C>G (n.4089C>G) c.1766C>G (p.Pro589Arg) n.1701C>G c.1769C>G (p.Pro590Arg) c.6090C>G c.6548C>G (p.Pro2183Arg) c.705-500C>G (n.705-500C>G) c.3870C>G c.6272C>G (p.Pro2091Arg) c.5984C>G (p.Pro1995Arg) c.3512C>G (p.Pro1171Arg) | |
19 | g.35733097C>T | CA405429227 | KMT2B | n.854C>T c.6482C>T (p.Pro2161Leu) c.4089C>T (n.4089C>T) c.1766C>T (p.Pro589Leu) n.1701C>T c.1769C>T (p.Pro590Leu) c.6090C>T c.6548C>T (p.Pro2183Leu) c.705-500C>T (n.705-500C>T) c.3870C>T c.6272C>T (p.Pro2091Leu) c.5984C>T (p.Pro1995Leu) c.3512C>T (p.Pro1171Leu) | |
19 | g.35733098C>A | CA507308497 | KMT2B | n.855C>A c.6483C>A (p.Pro2161=) c.4090C>A (n.4090C>A) c.1767C>A (p.Pro589=) n.1702C>A c.1770C>A (p.Pro590=) c.6091C>A c.6549C>A (p.Pro2183=) c.705-499C>A (n.705-499C>A) c.3871C>A c.6273C>A (p.Pro2091=) c.5985C>A (p.Pro1995=) c.3513C>A (p.Pro1171=) | gnomAD v4 |
19 | g.35733098C= | CA2333794655 | KMT2B | n.855C= c.6483C= (p.Pro2161=) c.4090C= (n.4090C=) c.1767C= (p.Pro589=) n.1702C= c.1770C= (p.Pro590=) c.6091C= c.6549C= (p.Pro2183=) c.705-499C= (n.705-499C=) c.3871C= c.6273C= (p.Pro2091=) c.5985C= (p.Pro1995=) c.3513C= (p.Pro1171=) | |
19 | g.35733098C>G | CA507308498 | KMT2B | n.855C>G c.6483C>G (p.Pro2161=) c.4090C>G (n.4090C>G) c.1767C>G (p.Pro589=) n.1702C>G c.1770C>G (p.Pro590=) c.6091C>G c.6549C>G (p.Pro2183=) c.705-499C>G (n.705-499C>G) c.3871C>G c.6273C>G (p.Pro2091=) c.5985C>G (p.Pro1995=) c.3513C>G (p.Pro1171=) | |
19 | g.35733098C>T | CA507308500 | KMT2B | n.855C>T c.6483C>T (p.Pro2161=) c.4090C>T (n.4090C>T) c.1767C>T (p.Pro589=) n.1702C>T c.1770C>T (p.Pro590=) c.6091C>T c.6549C>T (p.Pro2183=) c.705-499C>T (n.705-499C>T) c.3871C>T c.6273C>T (p.Pro2091=) c.5985C>T (p.Pro1995=) c.3513C>T (p.Pro1171=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35733099C>A | CA405429230 | KMT2B | n.856C>A c.6484C>A (p.Pro2162Thr) c.4091C>A (n.4091C>A) c.1768C>A (p.Pro590Thr) n.1703C>A c.1771C>A (p.Pro591Thr) c.6092C>A c.6550C>A (p.Pro2184Thr) c.705-498C>A (n.705-498C>A) c.3872C>A c.6274C>A (p.Pro2092Thr) c.5986C>A (p.Pro1996Thr) c.3514C>A (p.Pro1172Thr) | |
19 | g.35733099C= | CA2333794656 | KMT2B | n.856C= c.6484C= (p.Pro2162=) c.4091C= (n.4091C=) c.1768C= (p.Pro590=) n.1703C= c.1771C= (p.Pro591=) c.6092C= c.6550C= (p.Pro2184=) c.705-498C= (n.705-498C=) c.3872C= c.6274C= (p.Pro2092=) c.5986C= (p.Pro1996=) c.3514C= (p.Pro1172=) | |
19 | g.35733099C>G | CA405429236 | KMT2B | n.856C>G c.6484C>G (p.Pro2162Ala) c.4091C>G (n.4091C>G) c.1768C>G (p.Pro590Ala) n.1703C>G c.1771C>G (p.Pro591Ala) c.6092C>G c.6550C>G (p.Pro2184Ala) c.705-498C>G (n.705-498C>G) c.3872C>G c.6274C>G (p.Pro2092Ala) c.5986C>G (p.Pro1996Ala) c.3514C>G (p.Pro1172Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733099C>T | CA405429233 | KMT2B | n.856C>T c.6484C>T (p.Pro2162Ser) c.4091C>T (n.4091C>T) c.1768C>T (p.Pro590Ser) n.1703C>T c.1771C>T (p.Pro591Ser) c.6092C>T c.6550C>T (p.Pro2184Ser) c.705-498C>T (n.705-498C>T) c.3872C>T c.6274C>T (p.Pro2092Ser) c.5986C>T (p.Pro1996Ser) c.3514C>T (p.Pro1172Ser) | gnomAD v4 |
19 | g.35733100C>A | CA405429240 | KMT2B | n.857C>A c.6485C>A (p.Pro2162His) c.4092C>A (n.4092C>A) c.1769C>A (p.Pro590His) n.1704C>A c.1772C>A (p.Pro591His) c.6093C>A c.6551C>A (p.Pro2184His) c.705-497C>A (n.705-497C>A) c.3873C>A c.6275C>A (p.Pro2092His) c.5987C>A (p.Pro1996His) c.3515C>A (p.Pro1172His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.35733100C= | CA2333794657 | KMT2B | n.857C= c.6485C= (p.Pro2162=) c.4092C= (n.4092C=) c.1769C= (p.Pro590=) n.1704C= c.1772C= (p.Pro591=) c.6093C= c.6551C= (p.Pro2184=) c.705-497C= (n.705-497C=) c.3873C= c.6275C= (p.Pro2092=) c.5987C= (p.Pro1996=) c.3515C= (p.Pro1172=) | |
19 | g.35733100C>G | CA9385717 | KMT2B | n.857C>G c.6485C>G (p.Pro2162Arg) c.4092C>G (n.4092C>G) c.1769C>G (p.Pro590Arg) n.1704C>G c.1772C>G (p.Pro591Arg) c.6093C>G c.6551C>G (p.Pro2184Arg) c.705-497C>G (n.705-497C>G) c.3873C>G c.6275C>G (p.Pro2092Arg) c.5987C>G (p.Pro1996Arg) c.3515C>G (p.Pro1172Arg) | dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.35733100C>T | CA405429245 | KMT2B | n.857C>T c.6485C>T (p.Pro2162Leu) c.4092C>T (n.4092C>T) c.1769C>T (p.Pro590Leu) n.1704C>T c.1772C>T (p.Pro591Leu) c.6093C>T c.6551C>T (p.Pro2184Leu) c.705-497C>T (n.705-497C>T) c.3873C>T c.6275C>T (p.Pro2092Leu) c.5987C>T (p.Pro1996Leu) c.3515C>T (p.Pro1172Leu) | |
19 | g.35733101C>A | CA307797012 | KMT2B | n.858C>A c.6486C>A (p.Pro2162=) c.4093C>A (n.4093C>A) c.1770C>A (p.Pro590=) n.1705C>A c.1773C>A (p.Pro591=) c.6094C>A c.6552C>A (p.Pro2184=) c.705-496C>A (n.705-496C>A) c.3874C>A c.6276C>A (p.Pro2092=) c.5988C>A (p.Pro1996=) c.3516C>A (p.Pro1172=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35733101C= | CA2333794658 | KMT2B | n.858C= c.6486C= (p.Pro2162=) c.4093C= (n.4093C=) c.1770C= (p.Pro590=) n.1705C= c.1773C= (p.Pro591=) c.6094C= c.6552C= (p.Pro2184=) c.705-496C= (n.705-496C=) c.3874C= c.6276C= (p.Pro2092=) c.5988C= (p.Pro1996=) c.3516C= (p.Pro1172=) | |
19 | g.35733101C>G | CA507308503 | KMT2B | n.858C>G c.6486C>G (p.Pro2162=) c.4093C>G (n.4093C>G) c.1770C>G (p.Pro590=) n.1705C>G c.1773C>G (p.Pro591=) c.6094C>G c.6552C>G (p.Pro2184=) c.705-496C>G (n.705-496C>G) c.3874C>G c.6276C>G (p.Pro2092=) c.5988C>G (p.Pro1996=) c.3516C>G (p.Pro1172=) | |
19 | g.35733101C>T | CA507308509 | KMT2B | n.858C>T c.6486C>T (p.Pro2162=) c.4093C>T (n.4093C>T) c.1770C>T (p.Pro590=) n.1705C>T c.1773C>T (p.Pro591=) c.6094C>T c.6552C>T (p.Pro2184=) c.705-496C>T (n.705-496C>T) c.3874C>T c.6276C>T (p.Pro2092=) c.5988C>T (p.Pro1996=) c.3516C>T (p.Pro1172=) | |
19 | g.35733101_35733104delinsCAAA | CA2333794659 | KMT2B | n.858_861delinsCAAA c.6486_6489delinsCAAA (p.Pro2162=) c.4093_4096delinsCAAA (n.4093_4096delinsCAAA) c.1770_1773delinsCAAA (p.Pro590=) n.1705_1708delinsCAAA c.1773_1776delinsCAAA (p.Pro591=) c.6094_6097delinsCAAA c.6552_6555delinsCAAA (p.Pro2184=) c.705-496_705-493delinsCAAA (n.705-496_705-493delinsCAAA) c.3874_3877delinsCAAA c.6276_6279delinsCAAA (p.Pro2092=) c.5988_5991delinsCAAA (p.Pro1996=) c.3516_3519delinsCAAA (p.Pro1172=) | |
19 | g.35733102A>C | CA405429248 | KMT2B | n.859A>C c.6487A>C (p.Lys2163Gln) c.4094A>C (n.4094A>C) c.1771A>C (p.Lys591Gln) n.1706A>C c.1774A>C (p.Lys592Gln) c.6095A>C c.6553A>C (p.Lys2185Gln) c.705-495A>C (n.705-495A>C) c.3875A>C c.6277A>C (p.Lys2093Gln) c.5989A>C (p.Lys1997Gln) c.3517A>C (p.Lys1173Gln) | |
19 | g.35733102A>G | CA405429249 | KMT2B | n.859A>G c.6487A>G (p.Lys2163Glu) c.4094A>G (n.4094A>G) c.1771A>G (p.Lys591Glu) n.1706A>G c.1774A>G (p.Lys592Glu) c.6095A>G c.6553A>G (p.Lys2185Glu) c.705-495A>G (n.705-495A>G) c.3875A>G c.6277A>G (p.Lys2093Glu) c.5989A>G (p.Lys1997Glu) c.3517A>G (p.Lys1173Glu) | |
19 | g.35733102A>T | CA405429252 | KMT2B | n.859A>T c.6487A>T (p.Lys2163Ter) c.4094A>T (n.4094A>T) c.1771A>T (p.Lys591Ter) n.1706A>T c.1774A>T (p.Lys592Ter) c.6095A>T c.6553A>T (p.Lys2185Ter) c.705-495A>T (n.705-495A>T) c.3875A>T c.6277A>T (p.Lys2093Ter) c.5989A>T (p.Lys1997Ter) c.3517A>T (p.Lys1173Ter) | |
19 | g.35733102_35733104del | CA507308512 | KMT2B | n.859_861del c.6487_6489del (p.Lys2163del) c.4094_4096del (n.4094_4096del) c.1771_1773del (p.Lys591del) n.1706_1708del c.1774_1776del (p.Lys592del) c.6095_6097del c.6553_6555del (p.Lys2185del) c.705-495_705-493del (n.705-495_705-493del) c.3875_3877del c.6277_6279del (p.Lys2093del) c.5989_5991del (p.Lys1997del) c.3517_3519del (p.Lys1173del) | dbSNP |
19 | g.35733103A= | CA2333794660 | KMT2B | n.860A= c.6488A= (p.Lys2163=) c.4095A= (n.4095A=) c.1772A= (p.Lys591=) n.1707A= c.1775A= (p.Lys592=) c.6096A= c.6554A= (p.Lys2185=) c.705-494A= (n.705-494A=) c.3876A= c.6278A= (p.Lys2093=) c.5990A= (p.Lys1997=) c.3518A= (p.Lys1173=) | |
19 | g.35733103A>C | CA405429256 | KMT2B | n.860A>C c.6488A>C (p.Lys2163Thr) c.4095A>C (n.4095A>C) c.1772A>C (p.Lys591Thr) n.1707A>C c.1775A>C (p.Lys592Thr) c.6096A>C c.6554A>C (p.Lys2185Thr) c.705-494A>C (n.705-494A>C) c.3876A>C c.6278A>C (p.Lys2093Thr) c.5990A>C (p.Lys1997Thr) c.3518A>C (p.Lys1173Thr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35733103A>G | CA405429257 | KMT2B | n.860A>G c.6488A>G (p.Lys2163Arg) c.4095A>G (n.4095A>G) c.1772A>G (p.Lys591Arg) n.1707A>G c.1775A>G (p.Lys592Arg) c.6096A>G c.6554A>G (p.Lys2185Arg) c.705-494A>G (n.705-494A>G) c.3876A>G c.6278A>G (p.Lys2093Arg) c.5990A>G (p.Lys1997Arg) c.3518A>G (p.Lys1173Arg) | |
19 | g.35733103A>T | CA405429260 | KMT2B | n.860A>T c.6488A>T (p.Lys2163Ile) c.4095A>T (n.4095A>T) c.1772A>T (p.Lys591Ile) n.1707A>T c.1775A>T (p.Lys592Ile) c.6096A>T c.6554A>T (p.Lys2185Ile) c.705-494A>T (n.705-494A>T) c.3876A>T c.6278A>T (p.Lys2093Ile) c.5990A>T (p.Lys1997Ile) c.3518A>T (p.Lys1173Ile) | |
19 | g.35733103_35733105del | CA405429263 | KMT2B | n.860_862del c.6488_6490del (p.Lys2163_Pro2164delinsThr) c.4095_4097del (n.4095_4097del) c.1772_1774del (p.Lys591_Pro592delinsThr) n.1707_1709del c.1775_1777del (p.Lys592_Pro593delinsThr) c.6096_6098del c.6554_6556del (p.Lys2185_Pro2186delinsThr) c.705-494_705-492del (n.705-494_705-492del) c.3876_3878del c.6278_6280del (p.Lys2093_Pro2094delinsThr) c.5990_5992del (p.Lys1997_Pro1998delinsThr) c.3518_3520del (p.Lys1173_Pro1174delinsThr) | |
19 | g.35733104A= | CA2333794661 | KMT2B | n.861A= c.6489A= (p.Lys2163=) c.4096A= (n.4096A=) c.1773A= (p.Lys591=) n.1708A= c.1776A= (p.Lys592=) c.6097A= c.6555A= (p.Lys2185=) c.705-493A= (n.705-493A=) c.3877A= c.6279A= (p.Lys2093=) c.5991A= (p.Lys1997=) c.3519A= (p.Lys1173=) | |
19 | g.35733104A>C | CA9385719 | KMT2B | n.861A>C c.6489A>C (p.Lys2163Asn) c.4096A>C (n.4096A>C) c.1773A>C (p.Lys591Asn) n.1708A>C c.1776A>C (p.Lys592Asn) c.6097A>C c.6555A>C (p.Lys2185Asn) c.705-493A>C (n.705-493A>C) c.3877A>C c.6279A>C (p.Lys2093Asn) c.5991A>C (p.Lys1997Asn) c.3519A>C (p.Lys1173Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733104A>G | CA507308519 | KMT2B | n.861A>G c.6489A>G (p.Lys2163=) c.4096A>G (n.4096A>G) c.1773A>G (p.Lys591=) n.1708A>G c.1776A>G (p.Lys592=) c.6097A>G c.6555A>G (p.Lys2185=) c.705-493A>G (n.705-493A>G) c.3877A>G c.6279A>G (p.Lys2093=) c.5991A>G (p.Lys1997=) c.3519A>G (p.Lys1173=) | |
19 | g.35733104A>T | CA405429268 | KMT2B | n.861A>T c.6489A>T (p.Lys2163Asn) c.4096A>T (n.4096A>T) c.1773A>T (p.Lys591Asn) n.1708A>T c.1776A>T (p.Lys592Asn) c.6097A>T c.6555A>T (p.Lys2185Asn) c.705-493A>T (n.705-493A>T) c.3877A>T c.6279A>T (p.Lys2093Asn) c.5991A>T (p.Lys1997Asn) c.3519A>T (p.Lys1173Asn) | |
19 | g.35733104_35733105insAC | CA307797021 | KMT2B | n.861_862insAC c.6489_6490insAC (p.Pro2164ThrfsTer18) c.4096_4097insAC (n.4096_4097insAC) c.1773_1774insAC (p.Pro592ThrfsTer18) n.1708_1709insAC c.1776_1777insAC (p.Pro593ThrfsTer18) c.6097_6098insAC c.6555_6556insAC (p.Pro2186ThrfsTer18) c.705-493_705-492insAC (n.705-493_705-492insAC) c.3877_3878insAC c.6279_6280insAC (p.Pro2094ThrfsTer18) c.5991_5992insAC (p.Pro1998ThrfsTer18) c.3519_3520insAC (p.Pro1174ThrfsTer18) | dbSNP |
19 | g.35733105C>A | CA405429279 | KMT2B | n.862C>A c.6490C>A (p.Pro2164Thr) c.4097C>A (n.4097C>A) c.1774C>A (p.Pro592Thr) n.1709C>A c.1777C>A (p.Pro593Thr) c.6098C>A c.6556C>A (p.Pro2186Thr) c.705-492C>A (n.705-492C>A) c.3878C>A c.6280C>A (p.Pro2094Thr) c.5992C>A (p.Pro1998Thr) c.3520C>A (p.Pro1174Thr) | gnomAD v4 |
19 | g.35733105C= | CA2333794662 | KMT2B | n.862C= c.6490C= (p.Pro2164=) c.4097C= (n.4097C=) c.1774C= (p.Pro592=) n.1709C= c.1777C= (p.Pro593=) c.6098C= c.6556C= (p.Pro2186=) c.705-492C= (n.705-492C=) c.3878C= c.6280C= (p.Pro2094=) c.5992C= (p.Pro1998=) c.3520C= (p.Pro1174=) | |
19 | g.35733105C>G | CA405429273 | KMT2B | n.862C>G c.6490C>G (p.Pro2164Ala) c.4097C>G (n.4097C>G) c.1774C>G (p.Pro592Ala) n.1709C>G c.1777C>G (p.Pro593Ala) c.6098C>G c.6556C>G (p.Pro2186Ala) c.705-492C>G (n.705-492C>G) c.3878C>G c.6280C>G (p.Pro2094Ala) c.5992C>G (p.Pro1998Ala) c.3520C>G (p.Pro1174Ala) | ClinVar dbSNP gnomAD v4 |
19 | g.35733105C>T | CA405429275 | KMT2B | n.862C>T c.6490C>T (p.Pro2164Ser) c.4097C>T (n.4097C>T) c.1774C>T (p.Pro592Ser) n.1709C>T c.1777C>T (p.Pro593Ser) c.6098C>T c.6556C>T (p.Pro2186Ser) c.705-492C>T (n.705-492C>T) c.3878C>T c.6280C>T (p.Pro2094Ser) c.5992C>T (p.Pro1998Ser) c.3520C>T (p.Pro1174Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35733107dup | CA9385718 | KMT2B | n.864dup c.6492dup (p.Ala2165ArgfsTer23) c.4099dup (n.4099dup) c.1776dup (p.Ala593ArgfsTer23) n.1711dup c.1779dup (p.Ala594ArgfsTer23) c.6100dup c.6558dup (p.Ala2187ArgfsTer23) c.705-490dup (n.705-490dup) c.3880dup c.6282dup (p.Ala2095ArgfsTer23) c.5994dup (p.Ala1999ArgfsTer23) c.3522dup (p.Ala1175ArgfsTer23) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35733106C>A | CA405429282 | KMT2B | n.863C>A c.6491C>A (p.Pro2164His) c.4098C>A (n.4098C>A) c.1775C>A (p.Pro592His) n.1710C>A c.1778C>A (p.Pro593His) c.6099C>A c.6557C>A (p.Pro2186His) c.705-491C>A (n.705-491C>A) c.3879C>A c.6281C>A (p.Pro2094His) c.5993C>A (p.Pro1998His) c.3521C>A (p.Pro1174His) | gnomAD v4 |
19 | g.35733106C= | CA2333794663 | KMT2B | n.863C= c.6491C= (p.Pro2164=) c.4098C= (n.4098C=) c.1775C= (p.Pro592=) n.1710C= c.1778C= (p.Pro593=) c.6099C= c.6557C= (p.Pro2186=) c.705-491C= (n.705-491C=) c.3879C= c.6281C= (p.Pro2094=) c.5993C= (p.Pro1998=) c.3521C= (p.Pro1174=) | |
19 | g.35733106C>G | CA405429284 | KMT2B | n.863C>G c.6491C>G (p.Pro2164Arg) c.4098C>G (n.4098C>G) c.1775C>G (p.Pro592Arg) n.1710C>G c.1778C>G (p.Pro593Arg) c.6099C>G c.6557C>G (p.Pro2186Arg) c.705-491C>G (n.705-491C>G) c.3879C>G c.6281C>G (p.Pro2094Arg) c.5993C>G (p.Pro1998Arg) c.3521C>G (p.Pro1174Arg) | |
19 | g.35733106C>T | CA405429285 | KMT2B | n.863C>T c.6491C>T (p.Pro2164Leu) c.4098C>T (n.4098C>T) c.1775C>T (p.Pro592Leu) n.1710C>T c.1778C>T (p.Pro593Leu) c.6099C>T c.6557C>T (p.Pro2186Leu) c.705-491C>T (n.705-491C>T) c.3879C>T c.6281C>T (p.Pro2094Leu) c.5993C>T (p.Pro1998Leu) c.3521C>T (p.Pro1174Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733107C>A | CA507308544 | KMT2B | n.864C>A c.6492C>A (p.Pro2164=) c.4099C>A (n.4099C>A) c.1776C>A (p.Pro592=) n.1711C>A c.1779C>A (p.Pro593=) c.6100C>A c.6558C>A (p.Pro2186=) c.705-490C>A (n.705-490C>A) c.3880C>A c.6282C>A (p.Pro2094=) c.5994C>A (p.Pro1998=) c.3522C>A (p.Pro1174=) | |
19 | g.35733107C= | CA2333794664 | KMT2B | n.864C= c.6492C= (p.Pro2164=) c.4099C= (n.4099C=) c.1776C= (p.Pro592=) n.1711C= c.1779C= (p.Pro593=) c.6100C= c.6558C= (p.Pro2186=) c.705-490C= (n.705-490C=) c.3880C= c.6282C= (p.Pro2094=) c.5994C= (p.Pro1998=) c.3522C= (p.Pro1174=) | |
19 | g.35733107C>G | CA507308545 | KMT2B | n.864C>G c.6492C>G (p.Pro2164=) c.4099C>G (n.4099C>G) c.1776C>G (p.Pro592=) n.1711C>G c.1779C>G (p.Pro593=) c.6100C>G c.6558C>G (p.Pro2186=) c.705-490C>G (n.705-490C>G) c.3880C>G c.6282C>G (p.Pro2094=) c.5994C>G (p.Pro1998=) c.3522C>G (p.Pro1174=) | |
19 | g.35733107C>T | CA9385720 | KMT2B | n.864C>T c.6492C>T (p.Pro2164=) c.4099C>T (n.4099C>T) c.1776C>T (p.Pro592=) n.1711C>T c.1779C>T (p.Pro593=) c.6100C>T c.6558C>T (p.Pro2186=) c.705-490C>T (n.705-490C>T) c.3880C>T c.6282C>T (p.Pro2094=) c.5994C>T (p.Pro1998=) c.3522C>T (p.Pro1174=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733108G>A | CA9385721 | KMT2B | n.865G>A c.6493G>A (p.Ala2165Thr) c.4100G>A (n.4100G>A) c.1777G>A (p.Ala593Thr) n.1712G>A c.1780G>A (p.Ala594Thr) c.6101G>A c.6559G>A (p.Ala2187Thr) c.705-489G>A (n.705-489G>A) c.3881G>A c.6283G>A (p.Ala2095Thr) c.5995G>A (p.Ala1999Thr) c.3523G>A (p.Ala1175Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733108G>C | CA405429291 | KMT2B | n.865G>C c.6493G>C (p.Ala2165Pro) c.4100G>C (n.4100G>C) c.1777G>C (p.Ala593Pro) n.1712G>C c.1780G>C (p.Ala594Pro) c.6101G>C c.6559G>C (p.Ala2187Pro) c.705-489G>C (n.705-489G>C) c.3881G>C c.6283G>C (p.Ala2095Pro) c.5995G>C (p.Ala1999Pro) c.3523G>C (p.Ala1175Pro) | ClinVar gnomAD v4 |
19 | g.35733108G= | CA2333794665 | KMT2B | n.865G= c.6493G= (p.Ala2165=) c.4100G= (n.4100G=) c.1777G= (p.Ala593=) n.1712G= c.1780G= (p.Ala594=) c.6101G= c.6559G= (p.Ala2187=) c.705-489G= (n.705-489G=) c.3881G= c.6283G= (p.Ala2095=) c.5995G= (p.Ala1999=) c.3523G= (p.Ala1175=) | |
19 | g.35733108G>T | CA9385722 | KMT2B | n.865G>T c.6493G>T (p.Ala2165Ser) c.4100G>T (n.4100G>T) c.1777G>T (p.Ala593Ser) n.1712G>T c.1780G>T (p.Ala594Ser) c.6101G>T c.6559G>T (p.Ala2187Ser) c.705-489G>T (n.705-489G>T) c.3881G>T c.6283G>T (p.Ala2095Ser) c.5995G>T (p.Ala1999Ser) c.3523G>T (p.Ala1175Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35733109C>A | CA405429294 | KMT2B | n.866C>A c.6494C>A (p.Ala2165Asp) c.4101C>A (n.4101C>A) c.1778C>A (p.Ala593Asp) n.1713C>A c.1781C>A (p.Ala594Asp) c.6102C>A c.6560C>A (p.Ala2187Asp) c.705-488C>A (n.705-488C>A) c.3882C>A c.6284C>A (p.Ala2095Asp) c.5996C>A (p.Ala1999Asp) c.3524C>A (p.Ala1175Asp) | gnomAD v4 |
19 | g.35733109C= | CA2333794666 | KMT2B | n.866C= c.6494C= (p.Ala2165=) c.4101C= (n.4101C=) c.1778C= (p.Ala593=) n.1713C= c.1781C= (p.Ala594=) c.6102C= c.6560C= (p.Ala2187=) c.705-488C= (n.705-488C=) c.3882C= c.6284C= (p.Ala2095=) c.5996C= (p.Ala1999=) c.3524C= (p.Ala1175=) | |
19 | g.35733109C>G | CA405429295 | KMT2B | n.866C>G c.6494C>G (p.Ala2165Gly) c.4101C>G (n.4101C>G) c.1778C>G (p.Ala593Gly) n.1713C>G c.1781C>G (p.Ala594Gly) c.6102C>G c.6560C>G (p.Ala2187Gly) c.705-488C>G (n.705-488C>G) c.3882C>G c.6284C>G (p.Ala2095Gly) c.5996C>G (p.Ala1999Gly) c.3524C>G (p.Ala1175Gly) | gnomAD v4 |
19 | g.35733109C>T | CA307797055 | KMT2B | n.866C>T c.6494C>T (p.Ala2165Val) c.4101C>T (n.4101C>T) c.1778C>T (p.Ala593Val) n.1713C>T c.1781C>T (p.Ala594Val) c.6102C>T c.6560C>T (p.Ala2187Val) c.705-488C>T (n.705-488C>T) c.3882C>T c.6284C>T (p.Ala2095Val) c.5996C>T (p.Ala1999Val) c.3524C>T (p.Ala1175Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733110del | CA2584575165 | KMT2B | n.867del c.6495del (p.Thr2166HisfsTer15) c.4102del (n.4102del) c.1779del (p.Thr594HisfsTer15) n.1714del c.1782del (p.Thr595HisfsTer15) c.6103del c.6561del (p.Thr2188HisfsTer15) c.705-487del (n.705-487del) c.3883del c.6285del (p.Thr2096HisfsTer15) c.5997del (p.Thr2000HisfsTer15) c.3525del (p.Thr1176HisfsTer15) | gnomAD v4 |
19 | g.35733110C>A | CA507308561 | KMT2B | n.867C>A c.6495C>A (p.Ala2165=) c.4102C>A (n.4102C>A) c.1779C>A (p.Ala593=) n.1714C>A c.1782C>A (p.Ala594=) c.6103C>A c.6561C>A (p.Ala2187=) c.705-487C>A (n.705-487C>A) c.3883C>A c.6285C>A (p.Ala2095=) c.5997C>A (p.Ala1999=) c.3525C>A (p.Ala1175=) | gnomAD v4 |
19 | g.35733110C= | CA2333794667 | KMT2B | n.867C= c.6495C= (p.Ala2165=) c.4102C= (n.4102C=) c.1779C= (p.Ala593=) n.1714C= c.1782C= (p.Ala594=) c.6103C= c.6561C= (p.Ala2187=) c.705-487C= (n.705-487C=) c.3883C= c.6285C= (p.Ala2095=) c.5997C= (p.Ala1999=) c.3525C= (p.Ala1175=) | |
19 | g.35733110C>G | CA507308562 | KMT2B | n.867C>G c.6495C>G (p.Ala2165=) c.4102C>G (n.4102C>G) c.1779C>G (p.Ala593=) n.1714C>G c.1782C>G (p.Ala594=) c.6103C>G c.6561C>G (p.Ala2187=) c.705-487C>G (n.705-487C>G) c.3883C>G c.6285C>G (p.Ala2095=) c.5997C>G (p.Ala1999=) c.3525C>G (p.Ala1175=) | |
19 | g.35733110C>T | CA9385723 | KMT2B | n.867C>T c.6495C>T (p.Ala2165=) c.4102C>T (n.4102C>T) c.1779C>T (p.Ala593=) n.1714C>T c.1782C>T (p.Ala594=) c.6103C>T c.6561C>T (p.Ala2187=) c.705-487C>T (n.705-487C>T) c.3883C>T c.6285C>T (p.Ala2095=) c.5997C>T (p.Ala1999=) c.3525C>T (p.Ala1175=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35733111A>C | CA405429296 | KMT2B | n.868A>C c.6496A>C (p.Thr2166Pro) c.4103A>C (n.4103A>C) c.1780A>C (p.Thr594Pro) n.1715A>C c.1783A>C (p.Thr595Pro) c.6104A>C c.6562A>C (p.Thr2188Pro) c.705-486A>C (n.705-486A>C) c.3884A>C c.6286A>C (p.Thr2096Pro) c.5998A>C (p.Thr2000Pro) c.3526A>C (p.Thr1176Pro) | |
19 | g.35733111A>G | CA405429297 | KMT2B | n.868A>G c.6496A>G (p.Thr2166Ala) c.4103A>G (n.4103A>G) c.1780A>G (p.Thr594Ala) n.1715A>G c.1783A>G (p.Thr595Ala) c.6104A>G c.6562A>G (p.Thr2188Ala) c.705-486A>G (n.705-486A>G) c.3884A>G c.6286A>G (p.Thr2096Ala) c.5998A>G (p.Thr2000Ala) c.3526A>G (p.Thr1176Ala) | gnomAD v4 |
19 | g.35733111A>T | CA405429298 | KMT2B | n.868A>T c.6496A>T (p.Thr2166Ser) c.4103A>T (n.4103A>T) c.1780A>T (p.Thr594Ser) n.1715A>T c.1783A>T (p.Thr595Ser) c.6104A>T c.6562A>T (p.Thr2188Ser) c.705-486A>T (n.705-486A>T) c.3884A>T c.6286A>T (p.Thr2096Ser) c.5998A>T (p.Thr2000Ser) c.3526A>T (p.Thr1176Ser) | gnomAD v4 |
19 | g.35733112C>A | CA405429299 | KMT2B | n.869C>A c.6497C>A (p.Thr2166Lys) c.4104C>A (n.4104C>A) c.1781C>A (p.Thr594Lys) n.1716C>A c.1784C>A (p.Thr595Lys) c.6105C>A c.6563C>A (p.Thr2188Lys) c.705-485C>A (n.705-485C>A) c.3885C>A c.6287C>A (p.Thr2096Lys) c.5999C>A (p.Thr2000Lys) c.3527C>A (p.Thr1176Lys) | gnomAD v4 |
19 | g.35733112C>G | CA405429301 | KMT2B | n.869C>G c.6497C>G (p.Thr2166Arg) c.4104C>G (n.4104C>G) c.1781C>G (p.Thr594Arg) n.1716C>G c.1784C>G (p.Thr595Arg) c.6105C>G c.6563C>G (p.Thr2188Arg) c.705-485C>G (n.705-485C>G) c.3885C>G c.6287C>G (p.Thr2096Arg) c.5999C>G (p.Thr2000Arg) c.3527C>G (p.Thr1176Arg) | |
19 | g.35733112C>T | CA405429300 | KMT2B | n.869C>T c.6497C>T (p.Thr2166Ile) c.4104C>T (n.4104C>T) c.1781C>T (p.Thr594Ile) n.1716C>T c.1784C>T (p.Thr595Ile) c.6105C>T c.6563C>T (p.Thr2188Ile) c.705-485C>T (n.705-485C>T) c.3885C>T c.6287C>T (p.Thr2096Ile) c.5999C>T (p.Thr2000Ile) c.3527C>T (p.Thr1176Ile) | |
19 | g.35733113A>C | CA507308577 | KMT2B | n.870A>C c.6498A>C (p.Thr2166=) c.4105A>C (n.4105A>C) c.1782A>C (p.Thr594=) n.1717A>C c.1785A>C (p.Thr595=) c.6106A>C c.6564A>C (p.Thr2188=) c.705-484A>C (n.705-484A>C) c.3886A>C c.6288A>C (p.Thr2096=) c.6000A>C (p.Thr2000=) c.3528A>C (p.Thr1176=) | |
19 | g.35733113A>G | CA507308578 | KMT2B | n.870A>G c.6498A>G (p.Thr2166=) c.4105A>G (n.4105A>G) c.1782A>G (p.Thr594=) n.1717A>G c.1785A>G (p.Thr595=) c.6106A>G c.6564A>G (p.Thr2188=) c.705-484A>G (n.705-484A>G) c.3886A>G c.6288A>G (p.Thr2096=) c.6000A>G (p.Thr2000=) c.3528A>G (p.Thr1176=) | gnomAD v4 |
19 | g.35733113A>T | CA507308575 | KMT2B | n.870A>T c.6498A>T (p.Thr2166=) c.4105A>T (n.4105A>T) c.1782A>T (p.Thr594=) n.1717A>T c.1785A>T (p.Thr595=) c.6106A>T c.6564A>T (p.Thr2188=) c.705-484A>T (n.705-484A>T) c.3886A>T c.6288A>T (p.Thr2096=) c.6000A>T (p.Thr2000=) c.3528A>T (p.Thr1176=) | |
19 | g.35733114T>A | CA405429302 | KMT2B | n.871T>A c.6499T>A (p.Ser2167Thr) c.4106T>A (n.4106T>A) c.1783T>A (p.Ser595Thr) n.1718T>A c.1786T>A (p.Ser596Thr) c.6107T>A c.6565T>A (p.Ser2189Thr) c.705-483T>A (n.705-483T>A) c.3887T>A c.6289T>A (p.Ser2097Thr) c.6001T>A (p.Ser2001Thr) c.3529T>A (p.Ser1177Thr) | |
19 | g.35733114T>C | CA405429303 | KMT2B | n.871T>C c.6499T>C (p.Ser2167Pro) c.4106T>C (n.4106T>C) c.1783T>C (p.Ser595Pro) n.1718T>C c.1786T>C (p.Ser596Pro) c.6107T>C c.6565T>C (p.Ser2189Pro) c.705-483T>C (n.705-483T>C) c.3887T>C c.6289T>C (p.Ser2097Pro) c.6001T>C (p.Ser2001Pro) c.3529T>C (p.Ser1177Pro) | gnomAD v4 |
19 | g.35733114T>G | CA405429304 | KMT2B | n.871T>G c.6499T>G (p.Ser2167Ala) c.4106T>G (n.4106T>G) c.1783T>G (p.Ser595Ala) n.1718T>G c.1786T>G (p.Ser596Ala) c.6107T>G c.6565T>G (p.Ser2189Ala) c.705-483T>G (n.705-483T>G) c.3887T>G c.6289T>G (p.Ser2097Ala) c.6001T>G (p.Ser2001Ala) c.3529T>G (p.Ser1177Ala) | dbSNP gnomAD v4 |
19 | g.35733114T= | CA2333794668 | KMT2B | n.871T= c.6499T= (p.Ser2167=) c.4106T= (n.4106T=) c.1783T= (p.Ser595=) n.1718T= c.1786T= (p.Ser596=) c.6107T= c.6565T= (p.Ser2189=) c.705-483T= (n.705-483T=) c.3887T= c.6289T= (p.Ser2097=) c.6001T= (p.Ser2001=) c.3529T= (p.Ser1177=) | |
19 | g.35733115C>A | CA405429305 | KMT2B | n.872C>A c.6500C>A (p.Ser2167Tyr) c.4107C>A (n.4107C>A) c.1784C>A (p.Ser595Tyr) n.1719C>A c.1787C>A (p.Ser596Tyr) c.6108C>A c.6566C>A (p.Ser2189Tyr) c.705-482C>A (n.705-482C>A) c.3888C>A c.6290C>A (p.Ser2097Tyr) c.6002C>A (p.Ser2001Tyr) c.3530C>A (p.Ser1177Tyr) | gnomAD v4 |
19 | g.35733115C= | CA2333794669 | KMT2B | n.872C= c.6500C= (p.Ser2167=) c.4107C= (n.4107C=) c.1784C= (p.Ser595=) n.1719C= c.1787C= (p.Ser596=) c.6108C= c.6566C= (p.Ser2189=) c.705-482C= (n.705-482C=) c.3888C= c.6290C= (p.Ser2097=) c.6002C= (p.Ser2001=) c.3530C= (p.Ser1177=) | |
19 | g.35733115C>G | CA9385724 | KMT2B | n.872C>G c.6500C>G (p.Ser2167Cys) c.4107C>G (n.4107C>G) c.1784C>G (p.Ser595Cys) n.1719C>G c.1787C>G (p.Ser596Cys) c.6108C>G c.6566C>G (p.Ser2189Cys) c.705-482C>G (n.705-482C>G) c.3888C>G c.6290C>G (p.Ser2097Cys) c.6002C>G (p.Ser2001Cys) c.3530C>G (p.Ser1177Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35733115C>T | CA405429306 | KMT2B | n.872C>T c.6500C>T (p.Ser2167Phe) c.4107C>T (n.4107C>T) c.1784C>T (p.Ser595Phe) n.1719C>T c.1787C>T (p.Ser596Phe) c.6108C>T c.6566C>T (p.Ser2189Phe) c.705-482C>T (n.705-482C>T) c.3888C>T c.6290C>T (p.Ser2097Phe) c.6002C>T (p.Ser2001Phe) c.3530C>T (p.Ser1177Phe) | gnomAD v4 |
19 | g.35733116C>A | CA507308589 | KMT2B | n.873C>A c.6501C>A (p.Ser2167=) c.4108C>A (n.4108C>A) c.1785C>A (p.Ser595=) n.1720C>A c.1788C>A (p.Ser596=) c.6109C>A c.6567C>A (p.Ser2189=) c.705-481C>A (n.705-481C>A) c.3889C>A c.6291C>A (p.Ser2097=) c.6003C>A (p.Ser2001=) c.3531C>A (p.Ser1177=) | gnomAD v4 |
19 | g.35733116C>G | CA507308591 | KMT2B | n.873C>G c.6501C>G (p.Ser2167=) c.4108C>G (n.4108C>G) c.1785C>G (p.Ser595=) n.1720C>G c.1788C>G (p.Ser596=) c.6109C>G c.6567C>G (p.Ser2189=) c.705-481C>G (n.705-481C>G) c.3889C>G c.6291C>G (p.Ser2097=) c.6003C>G (p.Ser2001=) c.3531C>G (p.Ser1177=) | |
19 | g.35733116C>T | CA507308593 | KMT2B | n.873C>T c.6501C>T (p.Ser2167=) c.4108C>T (n.4108C>T) c.1785C>T (p.Ser595=) n.1720C>T c.1788C>T (p.Ser596=) c.6109C>T c.6567C>T (p.Ser2189=) c.705-481C>T (n.705-481C>T) c.3889C>T c.6291C>T (p.Ser2097=) c.6003C>T (p.Ser2001=) c.3531C>T (p.Ser1177=) | gnomAD v4 |
19 | g.35733117A>C | CA405429307 | KMT2B | n.874A>C c.6502A>C (p.Lys2168Gln) c.4109A>C (n.4109A>C) c.1786A>C (p.Lys596Gln) n.1721A>C c.1789A>C (p.Lys597Gln) c.6110A>C c.6568A>C (p.Lys2190Gln) c.705-480A>C (n.705-480A>C) c.3890A>C c.6292A>C (p.Lys2098Gln) c.6004A>C (p.Lys2002Gln) c.3532A>C (p.Lys1178Gln) | |
19 | g.35733117A>G | CA405429308 | KMT2B | n.874A>G c.6502A>G (p.Lys2168Glu) c.4109A>G (n.4109A>G) c.1786A>G (p.Lys596Glu) n.1721A>G c.1789A>G (p.Lys597Glu) c.6110A>G c.6568A>G (p.Lys2190Glu) c.705-480A>G (n.705-480A>G) c.3890A>G c.6292A>G (p.Lys2098Glu) c.6004A>G (p.Lys2002Glu) c.3532A>G (p.Lys1178Glu) | gnomAD v4 |
19 | g.35733117A>T | CA405429309 | KMT2B | n.874A>T c.6502A>T (p.Lys2168Ter) c.4109A>T (n.4109A>T) c.1786A>T (p.Lys596Ter) n.1721A>T c.1789A>T (p.Lys597Ter) c.6110A>T c.6568A>T (p.Lys2190Ter) c.705-480A>T (n.705-480A>T) c.3890A>T c.6292A>T (p.Lys2098Ter) c.6004A>T (p.Lys2002Ter) c.3532A>T (p.Lys1178Ter) | |
19 | g.35733120del | CA2584575166 | KMT2B | n.877del c.6505del (p.Ile2169SerfsTer12) c.4112del (n.4112del) c.1789del (p.Ile597SerfsTer12) n.1724del c.1792del (p.Ile598SerfsTer12) c.6113del c.6571del (p.Ile2191SerfsTer12) c.705-477del (n.705-477del) c.3893del c.6295del (p.Ile2099SerfsTer12) c.6007del (p.Ile2003SerfsTer12) c.3535del (p.Ile1179SerfsTer12) | gnomAD v4 |
19 | g.35733118A>C | CA405429310 | KMT2B | n.875A>C c.6503A>C (p.Lys2168Thr) c.4110A>C (n.4110A>C) c.1787A>C (p.Lys596Thr) n.1722A>C c.1790A>C (p.Lys597Thr) c.6111A>C c.6569A>C (p.Lys2190Thr) c.705-479A>C (n.705-479A>C) c.3891A>C c.6293A>C (p.Lys2098Thr) c.6005A>C (p.Lys2002Thr) c.3533A>C (p.Lys1178Thr) | |
19 | g.35733118A>G | CA405429311 | KMT2B | n.875A>G c.6503A>G (p.Lys2168Arg) c.4110A>G (n.4110A>G) c.1787A>G (p.Lys596Arg) n.1722A>G c.1790A>G (p.Lys597Arg) c.6111A>G c.6569A>G (p.Lys2190Arg) c.705-479A>G (n.705-479A>G) c.3891A>G c.6293A>G (p.Lys2098Arg) c.6005A>G (p.Lys2002Arg) c.3533A>G (p.Lys1178Arg) | gnomAD v4 |
19 | g.35733118A>T | CA405429312 | KMT2B | n.875A>T c.6503A>T (p.Lys2168Ile) c.4110A>T (n.4110A>T) c.1787A>T (p.Lys596Ile) n.1722A>T c.1790A>T (p.Lys597Ile) c.6111A>T c.6569A>T (p.Lys2190Ile) c.705-479A>T (n.705-479A>T) c.3891A>T c.6293A>T (p.Lys2098Ile) c.6005A>T (p.Lys2002Ile) c.3533A>T (p.Lys1178Ile) | |
19 | g.35733119A= | CA2333794670 | KMT2B | n.876A= c.6504A= (p.Lys2168=) c.4111A= (n.4111A=) c.1788A= (p.Lys596=) n.1723A= c.1791A= (p.Lys597=) c.6112A= c.6570A= (p.Lys2190=) c.705-478A= (n.705-478A=) c.3892A= c.6294A= (p.Lys2098=) c.6006A= (p.Lys2002=) c.3534A= (p.Lys1178=) | |
19 | g.35733119A>C | CA405429313 | KMT2B | n.876A>C c.6504A>C (p.Lys2168Asn) c.4111A>C (n.4111A>C) c.1788A>C (p.Lys596Asn) n.1723A>C c.1791A>C (p.Lys597Asn) c.6112A>C c.6570A>C (p.Lys2190Asn) c.705-478A>C (n.705-478A>C) c.3892A>C c.6294A>C (p.Lys2098Asn) c.6006A>C (p.Lys2002Asn) c.3534A>C (p.Lys1178Asn) | |
19 | g.35733119A>G | CA9385725 | KMT2B | n.876A>G c.6504A>G (p.Lys2168=) c.4111A>G (n.4111A>G) c.1788A>G (p.Lys596=) n.1723A>G c.1791A>G (p.Lys597=) c.6112A>G c.6570A>G (p.Lys2190=) c.705-478A>G (n.705-478A>G) c.3892A>G c.6294A>G (p.Lys2098=) c.6006A>G (p.Lys2002=) c.3534A>G (p.Lys1178=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35733119A>T | CA405429315 | KMT2B | n.876A>T c.6504A>T (p.Lys2168Asn) c.4111A>T (n.4111A>T) c.1788A>T (p.Lys596Asn) n.1723A>T c.1791A>T (p.Lys597Asn) c.6112A>T c.6570A>T (p.Lys2190Asn) c.705-478A>T (n.705-478A>T) c.3892A>T c.6294A>T (p.Lys2098Asn) c.6006A>T (p.Lys2002Asn) c.3534A>T (p.Lys1178Asn) | |
19 | g.35733120A= | CA2333794671 | KMT2B | n.877A= c.6505A= (p.Ile2169=) c.4112A= (n.4112A=) c.1789A= (p.Ile597=) n.1724A= c.1792A= (p.Ile598=) c.6113A= c.6571A= (p.Ile2191=) c.705-477A= (n.705-477A=) c.3893A= c.6295A= (p.Ile2099=) c.6007A= (p.Ile2003=) c.3535A= (p.Ile1179=) | |
19 | g.35733120A>C | CA405429318 | KMT2B | n.877A>C c.6505A>C (p.Ile2169Leu) c.4112A>C (n.4112A>C) c.1789A>C (p.Ile597Leu) n.1724A>C c.1792A>C (p.Ile598Leu) c.6113A>C c.6571A>C (p.Ile2191Leu) c.705-477A>C (n.705-477A>C) c.3893A>C c.6295A>C (p.Ile2099Leu) c.6007A>C (p.Ile2003Leu) c.3535A>C (p.Ile1179Leu) | |
19 | g.35733120A>G | CA405429321 | KMT2B | n.877A>G c.6505A>G (p.Ile2169Val) c.4112A>G (n.4112A>G) c.1789A>G (p.Ile597Val) n.1724A>G c.1792A>G (p.Ile598Val) c.6113A>G c.6571A>G (p.Ile2191Val) c.705-477A>G (n.705-477A>G) c.3893A>G c.6295A>G (p.Ile2099Val) c.6007A>G (p.Ile2003Val) c.3535A>G (p.Ile1179Val) | ClinVar dbSNP |
19 | g.35733120A>T | CA405429323 | KMT2B | n.877A>T c.6505A>T (p.Ile2169Phe) c.4112A>T (n.4112A>T) c.1789A>T (p.Ile597Phe) n.1724A>T c.1792A>T (p.Ile598Phe) c.6113A>T c.6571A>T (p.Ile2191Phe) c.705-477A>T (n.705-477A>T) c.3893A>T c.6295A>T (p.Ile2099Phe) c.6007A>T (p.Ile2003Phe) c.3535A>T (p.Ile1179Phe) | gnomAD v4 |
19 | g.35733121T>A | CA405429326 | KMT2B | n.878T>A c.6506T>A (p.Ile2169Asn) c.4113T>A (n.4113T>A) c.1790T>A (p.Ile597Asn) n.1725T>A c.1793T>A (p.Ile598Asn) c.6114T>A c.6572T>A (p.Ile2191Asn) c.705-476T>A (n.705-476T>A) c.3894T>A c.6296T>A (p.Ile2099Asn) c.6008T>A (p.Ile2003Asn) c.3536T>A (p.Ile1179Asn) | |
19 | g.35733121T>C | CA405429327 | KMT2B | n.878T>C c.6506T>C (p.Ile2169Thr) c.4113T>C (n.4113T>C) c.1790T>C (p.Ile597Thr) n.1725T>C c.1793T>C (p.Ile598Thr) c.6114T>C c.6572T>C (p.Ile2191Thr) c.705-476T>C (n.705-476T>C) c.3894T>C c.6296T>C (p.Ile2099Thr) c.6008T>C (p.Ile2003Thr) c.3536T>C (p.Ile1179Thr) | |
19 | g.35733121T>G | CA405429329 | KMT2B | n.878T>G c.6506T>G (p.Ile2169Ser) c.4113T>G (n.4113T>G) c.1790T>G (p.Ile597Ser) n.1725T>G c.1793T>G (p.Ile598Ser) c.6114T>G c.6572T>G (p.Ile2191Ser) c.705-476T>G (n.705-476T>G) c.3894T>G c.6296T>G (p.Ile2099Ser) c.6008T>G (p.Ile2003Ser) c.3536T>G (p.Ile1179Ser) | |
19 | g.35733122C>A | CA507308609 | KMT2B | n.879C>A c.6507C>A (p.Ile2169=) c.4114C>A (n.4114C>A) c.1791C>A (p.Ile597=) n.1726C>A c.1794C>A (p.Ile598=) c.6115C>A c.6573C>A (p.Ile2191=) c.705-475C>A (n.705-475C>A) c.3895C>A c.6297C>A (p.Ile2099=) c.6009C>A (p.Ile2003=) c.3537C>A (p.Ile1179=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35733122C= | CA2333794672 | KMT2B | n.879C= c.6507C= (p.Ile2169=) c.4114C= (n.4114C=) c.1791C= (p.Ile597=) n.1726C= c.1794C= (p.Ile598=) c.6115C= c.6573C= (p.Ile2191=) c.705-475C= (n.705-475C=) c.3895C= c.6297C= (p.Ile2099=) c.6009C= (p.Ile2003=) c.3537C= (p.Ile1179=) | |
19 | g.35733122C>G | CA405429331 | KMT2B | n.879C>G c.6507C>G (p.Ile2169Met) c.4114C>G (n.4114C>G) c.1791C>G (p.Ile597Met) n.1726C>G c.1794C>G (p.Ile598Met) c.6115C>G c.6573C>G (p.Ile2191Met) c.705-475C>G (n.705-475C>G) c.3895C>G c.6297C>G (p.Ile2099Met) c.6009C>G (p.Ile2003Met) c.3537C>G (p.Ile1179Met) | |
19 | g.35733122C>T | CA507308613 | KMT2B | n.879C>T c.6507C>T (p.Ile2169=) c.4114C>T (n.4114C>T) c.1791C>T (p.Ile597=) n.1726C>T c.1794C>T (p.Ile598=) c.6115C>T c.6573C>T (p.Ile2191=) c.705-475C>T (n.705-475C>T) c.3895C>T c.6297C>T (p.Ile2099=) c.6009C>T (p.Ile2003=) c.3537C>T (p.Ile1179=) | gnomAD v4 |
19 | g.35733123A= | CA2333794673 | KMT2B | n.880A= c.6508A= (p.Ile2170=) c.4115A= (n.4115A=) c.1792A= (p.Ile598=) n.1727A= c.1795A= (p.Ile599=) c.6116A= c.6574A= (p.Ile2192=) c.705-474A= (n.705-474A=) c.3896A= c.6298A= (p.Ile2100=) c.6010A= (p.Ile2004=) c.3538A= (p.Ile1180=) | |
19 | g.35733123A>C | CA405429334 | KMT2B | n.880A>C c.6508A>C (p.Ile2170Leu) c.4115A>C (n.4115A>C) c.1792A>C (p.Ile598Leu) n.1727A>C c.1795A>C (p.Ile599Leu) c.6116A>C c.6574A>C (p.Ile2192Leu) c.705-474A>C (n.705-474A>C) c.3896A>C c.6298A>C (p.Ile2100Leu) c.6010A>C (p.Ile2004Leu) c.3538A>C (p.Ile1180Leu) | |
19 | g.35733123A>G | CA405429335 | KMT2B | n.880A>G c.6508A>G (p.Ile2170Val) c.4115A>G (n.4115A>G) c.1792A>G (p.Ile598Val) n.1727A>G c.1795A>G (p.Ile599Val) c.6116A>G c.6574A>G (p.Ile2192Val) c.705-474A>G (n.705-474A>G) c.3896A>G c.6298A>G (p.Ile2100Val) c.6010A>G (p.Ile2004Val) c.3538A>G (p.Ile1180Val) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35733123A>T | CA405429337 | KMT2B | n.880A>T c.6508A>T (p.Ile2170Leu) c.4115A>T (n.4115A>T) c.1792A>T (p.Ile598Leu) n.1727A>T c.1795A>T (p.Ile599Leu) c.6116A>T c.6574A>T (p.Ile2192Leu) c.705-474A>T (n.705-474A>T) c.3896A>T c.6298A>T (p.Ile2100Leu) c.6010A>T (p.Ile2004Leu) c.3538A>T (p.Ile1180Leu) | dbSNP gnomAD v4 |
19 | g.35733124T>A | CA405429339 | KMT2B | n.881T>A c.6509T>A (p.Ile2170Lys) c.4116T>A (n.4116T>A) c.1793T>A (p.Ile598Lys) n.1728T>A c.1796T>A (p.Ile599Lys) c.6117T>A c.6575T>A (p.Ile2192Lys) c.705-473T>A (n.705-473T>A) c.3897T>A c.6299T>A (p.Ile2100Lys) c.6011T>A (p.Ile2004Lys) c.3539T>A (p.Ile1180Lys) | |
19 | g.35733124T>C | CA405429341 | KMT2B | n.881T>C c.6509T>C (p.Ile2170Thr) c.4116T>C (n.4116T>C) c.1793T>C (p.Ile598Thr) n.1728T>C c.1796T>C (p.Ile599Thr) c.6117T>C c.6575T>C (p.Ile2192Thr) c.705-473T>C (n.705-473T>C) c.3897T>C c.6299T>C (p.Ile2100Thr) c.6011T>C (p.Ile2004Thr) c.3539T>C (p.Ile1180Thr) | |
19 | g.35733124T>G | CA405429342 | KMT2B | n.881T>G c.6509T>G (p.Ile2170Arg) c.4116T>G (n.4116T>G) c.1793T>G (p.Ile598Arg) n.1728T>G c.1796T>G (p.Ile599Arg) c.6117T>G c.6575T>G (p.Ile2192Arg) c.705-473T>G (n.705-473T>G) c.3897T>G c.6299T>G (p.Ile2100Arg) c.6011T>G (p.Ile2004Arg) c.3539T>G (p.Ile1180Arg) | |
19 | g.35733125A= | CA2333794674 | KMT2B | n.882A= c.6510A= (p.Ile2170=) c.4117A= (n.4117A=) c.1794A= (p.Ile598=) n.1729A= c.1797A= (p.Ile599=) c.6118A= c.6576A= (p.Ile2192=) c.705-472A= (n.705-472A=) c.3898A= c.6300A= (p.Ile2100=) c.6012A= (p.Ile2004=) c.3540A= (p.Ile1180=) | |
19 | g.35733125A>C | CA507308618 | KMT2B | n.882A>C c.6510A>C (p.Ile2170=) c.4117A>C (n.4117A>C) c.1794A>C (p.Ile598=) n.1729A>C c.1797A>C (p.Ile599=) c.6118A>C c.6576A>C (p.Ile2192=) c.705-472A>C (n.705-472A>C) c.3898A>C c.6300A>C (p.Ile2100=) c.6012A>C (p.Ile2004=) c.3540A>C (p.Ile1180=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35733125A>G | CA405429345 | KMT2B | n.882A>G c.6510A>G (p.Ile2170Met) c.4117A>G (n.4117A>G) c.1794A>G (p.Ile598Met) n.1729A>G c.1797A>G (p.Ile599Met) c.6118A>G c.6576A>G (p.Ile2192Met) c.705-472A>G (n.705-472A>G) c.3898A>G c.6300A>G (p.Ile2100Met) c.6012A>G (p.Ile2004Met) c.3540A>G (p.Ile1180Met) | |
19 | g.35733125A>T | CA507308621 | KMT2B | n.882A>T c.6510A>T (p.Ile2170=) c.4117A>T (n.4117A>T) c.1794A>T (p.Ile598=) n.1729A>T c.1797A>T (p.Ile599=) c.6118A>T c.6576A>T (p.Ile2192=) c.705-472A>T (n.705-472A>T) c.3898A>T c.6300A>T (p.Ile2100=) c.6012A>T (p.Ile2004=) c.3540A>T (p.Ile1180=) | |
19 | g.35733126C>A | CA405429348 | KMT2B | n.883C>A c.6511C>A (p.Leu2171Ile) c.4118C>A (n.4118C>A) c.1795C>A (p.Leu599Ile) n.1730C>A c.1798C>A (p.Leu600Ile) c.6119C>A c.6577C>A (p.Leu2193Ile) c.705-471C>A (n.705-471C>A) c.3899C>A c.6301C>A (p.Leu2101Ile) c.6013C>A (p.Leu2005Ile) c.3541C>A (p.Leu1181Ile) | gnomAD v4 |
19 | g.35733126C>G | CA405429350 | KMT2B | n.883C>G c.6511C>G (p.Leu2171Val) c.4118C>G (n.4118C>G) c.1795C>G (p.Leu599Val) n.1730C>G c.1798C>G (p.Leu600Val) c.6119C>G c.6577C>G (p.Leu2193Val) c.705-471C>G (n.705-471C>G) c.3899C>G c.6301C>G (p.Leu2101Val) c.6013C>G (p.Leu2005Val) c.3541C>G (p.Leu1181Val) | gnomAD v4 |
19 | g.35733126C>T | CA405429352 | KMT2B | n.883C>T c.6511C>T (p.Leu2171Phe) c.4118C>T (n.4118C>T) c.1795C>T (p.Leu599Phe) n.1730C>T c.1798C>T (p.Leu600Phe) c.6119C>T c.6577C>T (p.Leu2193Phe) c.705-471C>T (n.705-471C>T) c.3899C>T c.6301C>T (p.Leu2101Phe) c.6013C>T (p.Leu2005Phe) c.3541C>T (p.Leu1181Phe) | gnomAD v4 |
19 | g.35733127T>A | CA405429355 | KMT2B | n.884T>A c.6512T>A (p.Leu2171His) c.4119T>A (n.4119T>A) c.1796T>A (p.Leu599His) n.1731T>A c.1799T>A (p.Leu600His) c.6120T>A c.6578T>A (p.Leu2193His) c.705-470T>A (n.705-470T>A) c.3900T>A c.6302T>A (p.Leu2101His) c.6014T>A (p.Leu2005His) c.3542T>A (p.Leu1181His) | gnomAD v4 |
19 | g.35733127T>C | CA405429357 | KMT2B | n.884T>C c.6512T>C (p.Leu2171Pro) c.4119T>C (n.4119T>C) c.1796T>C (p.Leu599Pro) n.1731T>C c.1799T>C (p.Leu600Pro) c.6120T>C c.6578T>C (p.Leu2193Pro) c.705-470T>C (n.705-470T>C) c.3900T>C c.6302T>C (p.Leu2101Pro) c.6014T>C (p.Leu2005Pro) c.3542T>C (p.Leu1181Pro) | |
19 | g.35733127T>G | CA405429359 | KMT2B | n.884T>G c.6512T>G (p.Leu2171Arg) c.4119T>G (n.4119T>G) c.1796T>G (p.Leu599Arg) n.1731T>G c.1799T>G (p.Leu600Arg) c.6120T>G c.6578T>G (p.Leu2193Arg) c.705-470T>G (n.705-470T>G) c.3900T>G c.6302T>G (p.Leu2101Arg) c.6014T>G (p.Leu2005Arg) c.3542T>G (p.Leu1181Arg) | |
19 | g.35733128T>A | CA507308628 | KMT2B | n.885T>A c.6513T>A (p.Leu2171=) c.4120T>A (n.4120T>A) c.1797T>A (p.Leu599=) n.1732T>A c.1800T>A (p.Leu600=) c.6121T>A c.6579T>A (p.Leu2193=) c.705-469T>A (n.705-469T>A) c.3901T>A c.6303T>A (p.Leu2101=) c.6015T>A (p.Leu2005=) c.3543T>A (p.Leu1181=) | gnomAD v4 |
19 | g.35733128T>C | CA507308631 | KMT2B | n.885T>C c.6513T>C (p.Leu2171=) c.4120T>C (n.4120T>C) c.1797T>C (p.Leu599=) n.1732T>C c.1800T>C (p.Leu600=) c.6121T>C c.6579T>C (p.Leu2193=) c.705-469T>C (n.705-469T>C) c.3901T>C c.6303T>C (p.Leu2101=) c.6015T>C (p.Leu2005=) c.3543T>C (p.Leu1181=) | gnomAD v4 |
19 | g.35733128T>G | CA507308625 | KMT2B | n.885T>G c.6513T>G (p.Leu2171=) c.4120T>G (n.4120T>G) c.1797T>G (p.Leu599=) n.1732T>G c.1800T>G (p.Leu600=) c.6121T>G c.6579T>G (p.Leu2193=) c.705-469T>G (n.705-469T>G) c.3901T>G c.6303T>G (p.Leu2101=) c.6015T>G (p.Leu2005=) c.3543T>G (p.Leu1181=) | |
19 | g.35733129G>A | CA405429360 | KMT2B | n.886G>A c.6514G>A (p.Val2172Ile) c.4121G>A (n.4121G>A) c.1798G>A (p.Val600Ile) n.1733G>A c.1801G>A (p.Val601Ile) c.6122G>A c.6580G>A (p.Val2194Ile) c.705-468G>A (n.705-468G>A) c.3902G>A c.6304G>A (p.Val2102Ile) c.6016G>A (p.Val2006Ile) c.3544G>A (p.Val1182Ile) | ClinVar dbSNP gnomAD v4 |
19 | g.35733129G>C | CA405429361 | KMT2B | n.886G>C c.6514G>C (p.Val2172Leu) c.4121G>C (n.4121G>C) c.1798G>C (p.Val600Leu) n.1733G>C c.1801G>C (p.Val601Leu) c.6122G>C c.6580G>C (p.Val2194Leu) c.705-468G>C (n.705-468G>C) c.3902G>C c.6304G>C (p.Val2102Leu) c.6016G>C (p.Val2006Leu) c.3544G>C (p.Val1182Leu) | |
19 | g.35733129G= | CA2333794675 | KMT2B | n.886G= c.6514G= (p.Val2172=) c.4121G= (n.4121G=) c.1798G= (p.Val600=) n.1733G= c.1801G= (p.Val601=) c.6122G= c.6580G= (p.Val2194=) c.705-468G= (n.705-468G=) c.3902G= c.6304G= (p.Val2102=) c.6016G= (p.Val2006=) c.3544G= (p.Val1182=) | |
19 | g.35733129G>T | CA405429363 | KMT2B | n.886G>T c.6514G>T (p.Val2172Phe) c.4121G>T (n.4121G>T) c.1798G>T (p.Val600Phe) n.1733G>T c.1801G>T (p.Val601Phe) c.6122G>T c.6580G>T (p.Val2194Phe) c.705-468G>T (n.705-468G>T) c.3902G>T c.6304G>T (p.Val2102Phe) c.6016G>T (p.Val2006Phe) c.3544G>T (p.Val1182Phe) | gnomAD v4 |
19 | g.35733130T>A | CA405429366 | KMT2B | n.887T>A c.6515T>A (p.Val2172Asp) c.4122T>A (n.4122T>A) c.1799T>A (p.Val600Asp) n.1734T>A c.1802T>A (p.Val601Asp) c.6123T>A c.6581T>A (p.Val2194Asp) c.705-467T>A (n.705-467T>A) c.3903T>A c.6305T>A (p.Val2102Asp) c.6017T>A (p.Val2006Asp) c.3545T>A (p.Val1182Asp) | gnomAD v4 |
19 | g.35733130T>C | CA405429368 | KMT2B | n.887T>C c.6515T>C (p.Val2172Ala) c.4122T>C (n.4122T>C) c.1799T>C (p.Val600Ala) n.1734T>C c.1802T>C (p.Val601Ala) c.6123T>C c.6581T>C (p.Val2194Ala) c.705-467T>C (n.705-467T>C) c.3903T>C c.6305T>C (p.Val2102Ala) c.6017T>C (p.Val2006Ala) c.3545T>C (p.Val1182Ala) | gnomAD v4 |
19 | g.35733130T>G | CA405429373 | KMT2B | n.887T>G c.6515T>G (p.Val2172Gly) c.4122T>G (n.4122T>G) c.1799T>G (p.Val600Gly) n.1734T>G c.1802T>G (p.Val601Gly) c.6123T>G c.6581T>G (p.Val2194Gly) c.705-467T>G (n.705-467T>G) c.3903T>G c.6305T>G (p.Val2102Gly) c.6017T>G (p.Val2006Gly) c.3545T>G (p.Val1182Gly) | |
19 | g.35733131C>A | CA507308640 | KMT2B | n.888C>A c.6516C>A (p.Val2172=) c.4123C>A (n.4123C>A) c.1800C>A (p.Val600=) n.1735C>A c.1803C>A (p.Val601=) c.6124C>A c.6582C>A (p.Val2194=) c.705-466C>A (n.705-466C>A) c.3904C>A c.6306C>A (p.Val2102=) c.6018C>A (p.Val2006=) c.3546C>A (p.Val1182=) | gnomAD v4 |
19 | g.35733131C= | CA2333794676 | KMT2B | n.888C= c.6516C= (p.Val2172=) c.4123C= (n.4123C=) c.1800C= (p.Val600=) n.1735C= c.1803C= (p.Val601=) c.6124C= c.6582C= (p.Val2194=) c.705-466C= (n.705-466C=) c.3904C= c.6306C= (p.Val2102=) c.6018C= (p.Val2006=) c.3546C= (p.Val1182=) | |
19 | g.35733131C>G | CA507308635 | KMT2B | n.888C>G c.6516C>G (p.Val2172=) c.4123C>G (n.4123C>G) c.1800C>G (p.Val600=) n.1735C>G c.1803C>G (p.Val601=) c.6124C>G c.6582C>G (p.Val2194=) c.705-466C>G (n.705-466C>G) c.3904C>G c.6306C>G (p.Val2102=) c.6018C>G (p.Val2006=) c.3546C>G (p.Val1182=) | |
19 | g.35733131C>T | CA507308638 | KMT2B | n.888C>T c.6516C>T (p.Val2172=) c.4123C>T (n.4123C>T) c.1800C>T (p.Val600=) n.1735C>T c.1803C>T (p.Val601=) c.6124C>T c.6582C>T (p.Val2194=) c.705-466C>T (n.705-466C>T) c.3904C>T c.6306C>T (p.Val2102=) c.6018C>T (p.Val2006=) c.3546C>T (p.Val1182=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733132A>C | CA405429376 | KMT2B | n.889A>C c.6517A>C (p.Asn2173His) c.4124A>C (n.4124A>C) c.1801A>C (p.Asn601His) n.1736A>C c.1804A>C (p.Asn602His) c.6125A>C c.6583A>C (p.Asn2195His) c.705-465A>C (n.705-465A>C) c.3905A>C c.6307A>C (p.Asn2103His) c.6019A>C (p.Asn2007His) c.3547A>C (p.Asn1183His) | |
19 | g.35733132A>G | CA405429380 | KMT2B | n.889A>G c.6517A>G (p.Asn2173Asp) c.4124A>G (n.4124A>G) c.1801A>G (p.Asn601Asp) n.1736A>G c.1804A>G (p.Asn602Asp) c.6125A>G c.6583A>G (p.Asn2195Asp) c.705-465A>G (n.705-465A>G) c.3905A>G c.6307A>G (p.Asn2103Asp) c.6019A>G (p.Asn2007Asp) c.3547A>G (p.Asn1183Asp) | |
19 | g.35733132A>T | CA405429378 | KMT2B | n.889A>T c.6517A>T (p.Asn2173Tyr) c.4124A>T (n.4124A>T) c.1801A>T (p.Asn601Tyr) n.1736A>T c.1804A>T (p.Asn602Tyr) c.6125A>T c.6583A>T (p.Asn2195Tyr) c.705-465A>T (n.705-465A>T) c.3905A>T c.6307A>T (p.Asn2103Tyr) c.6019A>T (p.Asn2007Tyr) c.3547A>T (p.Asn1183Tyr) | |
19 | g.35733133A>C | CA405429381 | KMT2B | n.890A>C c.6518A>C (p.Asn2173Thr) c.4125A>C (n.4125A>C) c.1802A>C (p.Asn601Thr) n.1737A>C c.1805A>C (p.Asn602Thr) c.6126A>C c.6584A>C (p.Asn2195Thr) c.705-464A>C (n.705-464A>C) c.3906A>C c.6308A>C (p.Asn2103Thr) c.6020A>C (p.Asn2007Thr) c.3548A>C (p.Asn1183Thr) | |
19 | g.35733133A>G | CA405429385 | KMT2B | n.890A>G c.6518A>G (p.Asn2173Ser) c.4125A>G (n.4125A>G) c.1802A>G (p.Asn601Ser) n.1737A>G c.1805A>G (p.Asn602Ser) c.6126A>G c.6584A>G (p.Asn2195Ser) c.705-464A>G (n.705-464A>G) c.3906A>G c.6308A>G (p.Asn2103Ser) c.6020A>G (p.Asn2007Ser) c.3548A>G (p.Asn1183Ser) | gnomAD v4 |
19 | g.35733133A>T | CA405429383 | KMT2B | n.890A>T c.6518A>T (p.Asn2173Ile) c.4125A>T (n.4125A>T) c.1802A>T (p.Asn601Ile) n.1737A>T c.1805A>T (p.Asn602Ile) c.6126A>T c.6584A>T (p.Asn2195Ile) c.705-464A>T (n.705-464A>T) c.3906A>T c.6308A>T (p.Asn2103Ile) c.6020A>T (p.Asn2007Ile) c.3548A>T (p.Asn1183Ile) | |
19 | g.35733134C>A | CA405429387 | KMT2B | n.891C>A c.6519C>A (p.Asn2173Lys) c.4126C>A (n.4126C>A) c.1803C>A (p.Asn601Lys) n.1738C>A c.1806C>A (p.Asn602Lys) c.6127C>A c.6585C>A (p.Asn2195Lys) c.705-463C>A (n.705-463C>A) c.3907C>A c.6309C>A (p.Asn2103Lys) c.6021C>A (p.Asn2007Lys) c.3549C>A (p.Asn1183Lys) | |
19 | g.35733134C= | CA2333794677 | KMT2B | n.891C= c.6519C= (p.Asn2173=) c.4126C= (n.4126C=) c.1803C= (p.Asn601=) n.1738C= c.1806C= (p.Asn602=) c.6127C= c.6585C= (p.Asn2195=) c.705-463C= (n.705-463C=) c.3907C= c.6309C= (p.Asn2103=) c.6021C= (p.Asn2007=) c.3549C= (p.Asn1183=) | |
19 | g.35733134C>G | CA405429390 | KMT2B | n.891C>G c.6519C>G (p.Asn2173Lys) c.4126C>G (n.4126C>G) c.1803C>G (p.Asn601Lys) n.1738C>G c.1806C>G (p.Asn602Lys) c.6127C>G c.6585C>G (p.Asn2195Lys) c.705-463C>G (n.705-463C>G) c.3907C>G c.6309C>G (p.Asn2103Lys) c.6021C>G (p.Asn2007Lys) c.3549C>G (p.Asn1183Lys) | |
19 | g.35733134C>T | CA507308646 | KMT2B | n.891C>T c.6519C>T (p.Asn2173=) c.4126C>T (n.4126C>T) c.1803C>T (p.Asn601=) n.1738C>T c.1806C>T (p.Asn602=) c.6127C>T c.6585C>T (p.Asn2195=) c.705-463C>T (n.705-463C>T) c.3907C>T c.6309C>T (p.Asn2103=) c.6021C>T (p.Asn2007=) c.3549C>T (p.Asn1183=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35733135A>C | CA405429393 | KMT2B | n.892A>C c.6520A>C (p.Lys2174Gln) c.4127A>C (n.4127A>C) c.1804A>C (p.Lys602Gln) n.1739A>C c.1807A>C (p.Lys603Gln) c.6128A>C c.6586A>C (p.Lys2196Gln) c.705-462A>C (n.705-462A>C) c.3908A>C c.6310A>C (p.Lys2104Gln) c.6022A>C (p.Lys2008Gln) c.3550A>C (p.Lys1184Gln) | |
19 | g.35733135A>G | CA405429395 | KMT2B | n.892A>G c.6520A>G (p.Lys2174Glu) c.4127A>G (n.4127A>G) c.1804A>G (p.Lys602Glu) n.1739A>G c.1807A>G (p.Lys603Glu) c.6128A>G c.6586A>G (p.Lys2196Glu) c.705-462A>G (n.705-462A>G) c.3908A>G c.6310A>G (p.Lys2104Glu) c.6022A>G (p.Lys2008Glu) c.3550A>G (p.Lys1184Glu) | gnomAD v4 |
19 | g.35733135A>T | CA405429397 | KMT2B | n.892A>T c.6520A>T (p.Lys2174Ter) c.4127A>T (n.4127A>T) c.1804A>T (p.Lys602Ter) n.1739A>T c.1807A>T (p.Lys603Ter) c.6128A>T c.6586A>T (p.Lys2196Ter) c.705-462A>T (n.705-462A>T) c.3908A>T c.6310A>T (p.Lys2104Ter) c.6022A>T (p.Lys2008Ter) c.3550A>T (p.Lys1184Ter) | |
19 | g.35733136A>C | CA405429400 | KMT2B | n.893A>C c.6521A>C (p.Lys2174Thr) c.4128A>C (n.4128A>C) c.1805A>C (p.Lys602Thr) n.1740A>C c.1808A>C (p.Lys603Thr) c.6129A>C c.6587A>C (p.Lys2196Thr) c.705-461A>C (n.705-461A>C) c.3909A>C c.6311A>C (p.Lys2104Thr) c.6023A>C (p.Lys2008Thr) c.3551A>C (p.Lys1184Thr) | |
19 | g.35733136A>G | CA405429402 | KMT2B | n.893A>G c.6521A>G (p.Lys2174Arg) c.4128A>G (n.4128A>G) c.1805A>G (p.Lys602Arg) n.1740A>G c.1808A>G (p.Lys603Arg) c.6129A>G c.6587A>G (p.Lys2196Arg) c.705-461A>G (n.705-461A>G) c.3909A>G c.6311A>G (p.Lys2104Arg) c.6023A>G (p.Lys2008Arg) c.3551A>G (p.Lys1184Arg) | gnomAD v4 |
19 | g.35733136A>T | CA405429403 | KMT2B | n.893A>T c.6521A>T (p.Lys2174Met) c.4128A>T (n.4128A>T) c.1805A>T (p.Lys602Met) n.1740A>T c.1808A>T (p.Lys603Met) c.6129A>T c.6587A>T (p.Lys2196Met) c.705-461A>T (n.705-461A>T) c.3909A>T c.6311A>T (p.Lys2104Met) c.6023A>T (p.Lys2008Met) c.3551A>T (p.Lys1184Met) | gnomAD v4 |
19 | g.35733137G>A | CA507308656 | KMT2B | n.894G>A c.6522G>A (p.Lys2174=) c.4129G>A (n.4129G>A) c.1806G>A (p.Lys602=) n.1741G>A c.1809G>A (p.Lys603=) c.6130G>A c.6588G>A (p.Lys2196=) c.705-460G>A (n.705-460G>A) c.3910G>A c.6312G>A (p.Lys2104=) c.6024G>A (p.Lys2008=) c.3552G>A (p.Lys1184=) | |
19 | g.35733137G>C | CA405429407 | KMT2B | n.894G>C c.6522G>C (p.Lys2174Asn) c.4129G>C (n.4129G>C) c.1806G>C (p.Lys602Asn) n.1741G>C c.1809G>C (p.Lys603Asn) c.6130G>C c.6588G>C (p.Lys2196Asn) c.705-460G>C (n.705-460G>C) c.3910G>C c.6312G>C (p.Lys2104Asn) c.6024G>C (p.Lys2008Asn) c.3552G>C (p.Lys1184Asn) | |
19 | g.35733137G>T | CA405429408 | KMT2B | n.894G>T c.6522G>T (p.Lys2174Asn) c.4129G>T (n.4129G>T) c.1806G>T (p.Lys602Asn) n.1741G>T c.1809G>T (p.Lys603Asn) c.6130G>T c.6588G>T (p.Lys2196Asn) c.705-460G>T (n.705-460G>T) c.3910G>T c.6312G>T (p.Lys2104Asn) c.6024G>T (p.Lys2008Asn) c.3552G>T (p.Lys1184Asn) | gnomAD v4 |
19 | g.35733138C>A | CA405429411 | KMT2B | n.895C>A c.6523C>A (p.Leu2175Met) c.4130C>A (n.4130C>A) c.1807C>A (p.Leu603Met) n.1742C>A c.1810C>A (p.Leu604Met) c.6131C>A c.6589C>A (p.Leu2197Met) c.705-459C>A (n.705-459C>A) c.3911C>A c.6313C>A (p.Leu2105Met) c.6025C>A (p.Leu2009Met) c.3553C>A (p.Leu1185Met) | gnomAD v4 |
19 | g.35733138C>G | CA405429414 | KMT2B | n.895C>G c.6523C>G (p.Leu2175Val) c.4130C>G (n.4130C>G) c.1807C>G (p.Leu603Val) n.1742C>G c.1810C>G (p.Leu604Val) c.6131C>G c.6589C>G (p.Leu2197Val) c.705-459C>G (n.705-459C>G) c.3911C>G c.6313C>G (p.Leu2105Val) c.6025C>G (p.Leu2009Val) c.3553C>G (p.Leu1185Val) | ClinVar |
19 | g.35733138C>T | CA507308662 | KMT2B | n.895C>T c.6523C>T (p.Leu2175=) c.4130C>T (n.4130C>T) c.1807C>T (p.Leu603=) n.1742C>T c.1810C>T (p.Leu604=) c.6131C>T c.6589C>T (p.Leu2197=) c.705-459C>T (n.705-459C>T) c.3911C>T c.6313C>T (p.Leu2105=) c.6025C>T (p.Leu2009=) c.3553C>T (p.Leu1185=) | gnomAD v4 |
19 | g.35733139T>A | CA405429421 | KMT2B | n.896T>A c.6524T>A (p.Leu2175Gln) c.4131T>A (n.4131T>A) c.1808T>A (p.Leu603Gln) n.1743T>A c.1811T>A (p.Leu604Gln) c.6132T>A c.6590T>A (p.Leu2197Gln) c.705-458T>A (n.705-458T>A) c.3912T>A c.6314T>A (p.Leu2105Gln) c.6026T>A (p.Leu2009Gln) c.3554T>A (p.Leu1185Gln) | |
19 | g.35733139T>C | CA405429419 | KMT2B | n.896T>C c.6524T>C (p.Leu2175Pro) c.4131T>C (n.4131T>C) c.1808T>C (p.Leu603Pro) n.1743T>C c.1811T>C (p.Leu604Pro) c.6132T>C c.6590T>C (p.Leu2197Pro) c.705-458T>C (n.705-458T>C) c.3912T>C c.6314T>C (p.Leu2105Pro) c.6026T>C (p.Leu2009Pro) c.3554T>C (p.Leu1185Pro) | dbSNP gnomAD v4 |
19 | g.35733139T>G | CA405429417 | KMT2B | n.896T>G c.6524T>G (p.Leu2175Arg) c.4131T>G (n.4131T>G) c.1808T>G (p.Leu603Arg) n.1743T>G c.1811T>G (p.Leu604Arg) c.6132T>G c.6590T>G (p.Leu2197Arg) c.705-458T>G (n.705-458T>G) c.3912T>G c.6314T>G (p.Leu2105Arg) c.6026T>G (p.Leu2009Arg) c.3554T>G (p.Leu1185Arg) | |
19 | g.35733140G>A | CA507308670 | KMT2B | n.897G>A c.6525G>A (p.Leu2175=) c.4132G>A (n.4132G>A) c.1809G>A (p.Leu603=) n.1744G>A c.1812G>A (p.Leu604=) c.6133G>A c.6591G>A (p.Leu2197=) c.705-457G>A (n.705-457G>A) c.3913G>A c.6315G>A (p.Leu2105=) c.6027G>A (p.Leu2009=) c.3555G>A (p.Leu1185=) | gnomAD v4 |
19 | g.35733140G>C | CA307797064 | KMT2B | n.897G>C c.6525G>C (p.Leu2175=) c.4132G>C (n.4132G>C) c.1809G>C (p.Leu603=) n.1744G>C c.1812G>C (p.Leu604=) c.6133G>C c.6591G>C (p.Leu2197=) c.705-457G>C (n.705-457G>C) c.3913G>C c.6315G>C (p.Leu2105=) c.6027G>C (p.Leu2009=) c.3555G>C (p.Leu1185=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35733140G= | CA2333794678 | KMT2B | n.897G= c.6525G= (p.Leu2175=) c.4132G= (n.4132G=) c.1809G= (p.Leu603=) n.1744G= c.1812G= (p.Leu604=) c.6133G= c.6591G= (p.Leu2197=) c.705-457G= (n.705-457G=) c.3913G= c.6315G= (p.Leu2105=) c.6027G= (p.Leu2009=) c.3555G= (p.Leu1185=) | |
19 | g.35733140G>T | CA507308671 | KMT2B | n.897G>T c.6525G>T (p.Leu2175=) c.4132G>T (n.4132G>T) c.1809G>T (p.Leu603=) n.1744G>T c.1812G>T (p.Leu604=) c.6133G>T c.6591G>T (p.Leu2197=) c.705-457G>T (n.705-457G>T) c.3913G>T c.6315G>T (p.Leu2105=) c.6027G>T (p.Leu2009=) c.3555G>T (p.Leu1185=) | gnomAD v4 |
19 | g.35733143del | CA2576757228 | KMT2B | n.900del c.6528del (p.Gln2177LysfsTer4) c.4135del (n.4135del) c.1812del (p.Gln605LysfsTer4) n.1747del c.1815del (p.Gln606LysfsTer4) c.6136del c.6594del (p.Gln2199LysfsTer4) c.705-454del (n.705-454del) c.3916del c.6318del (p.Gln2107LysfsTer4) c.6030del (p.Gln2011LysfsTer4) c.3558del (p.Gln1187LysfsTer4) | gnomAD v4 |
19 | g.35733141G>A | CA405429424 | KMT2B | n.898G>A c.6526G>A (p.Gly2176Arg) c.4133G>A (n.4133G>A) c.1810G>A (p.Gly604Arg) n.1745G>A c.1813G>A (p.Gly605Arg) c.6134G>A c.6592G>A (p.Gly2198Arg) c.705-456G>A (n.705-456G>A) c.3914G>A c.6316G>A (p.Gly2106Arg) c.6028G>A (p.Gly2010Arg) c.3556G>A (p.Gly1186Arg) | gnomAD v4 |
19 | g.35733141G>C | CA405429426 | KMT2B | n.898G>C c.6526G>C (p.Gly2176Arg) c.4133G>C (n.4133G>C) c.1810G>C (p.Gly604Arg) n.1745G>C c.1813G>C (p.Gly605Arg) c.6134G>C c.6592G>C (p.Gly2198Arg) c.705-456G>C (n.705-456G>C) c.3914G>C c.6316G>C (p.Gly2106Arg) c.6028G>C (p.Gly2010Arg) c.3556G>C (p.Gly1186Arg) | |
19 | g.35733141G>T | CA405429428 | KMT2B | n.898G>T c.6526G>T (p.Gly2176Trp) c.4133G>T (n.4133G>T) c.1810G>T (p.Gly604Trp) n.1745G>T c.1813G>T (p.Gly605Trp) c.6134G>T c.6592G>T (p.Gly2198Trp) c.705-456G>T (n.705-456G>T) c.3914G>T c.6316G>T (p.Gly2106Trp) c.6028G>T (p.Gly2010Trp) c.3556G>T (p.Gly1186Trp) | |
19 | g.35733142G>A | CA405429431 | KMT2B | n.899G>A c.6527G>A (p.Gly2176Glu) c.4134G>A (n.4134G>A) c.1811G>A (p.Gly604Glu) n.1746G>A c.1814G>A (p.Gly605Glu) c.6135G>A c.6593G>A (p.Gly2198Glu) c.705-455G>A (n.705-455G>A) c.3915G>A c.6317G>A (p.Gly2106Glu) c.6029G>A (p.Gly2010Glu) c.3557G>A (p.Gly1186Glu) | gnomAD v4 |
19 | g.35733142G>C | CA405429433 | KMT2B | n.899G>C c.6527G>C (p.Gly2176Ala) c.4134G>C (n.4134G>C) c.1811G>C (p.Gly604Ala) n.1746G>C c.1814G>C (p.Gly605Ala) c.6135G>C c.6593G>C (p.Gly2198Ala) c.705-455G>C (n.705-455G>C) c.3915G>C c.6317G>C (p.Gly2106Ala) c.6029G>C (p.Gly2010Ala) c.3557G>C (p.Gly1186Ala) | |
19 | g.35733142G>T | CA405429435 | KMT2B | n.899G>T c.6527G>T (p.Gly2176Val) c.4134G>T (n.4134G>T) c.1811G>T (p.Gly604Val) n.1746G>T c.1814G>T (p.Gly605Val) c.6135G>T c.6593G>T (p.Gly2198Val) c.705-455G>T (n.705-455G>T) c.3915G>T c.6317G>T (p.Gly2106Val) c.6029G>T (p.Gly2010Val) c.3557G>T (p.Gly1186Val) | gnomAD v4 |
19 | g.35733143G>A | CA9385726 | KMT2B | n.900G>A c.6528G>A (p.Gly2176=) c.4135G>A (n.4135G>A) c.1812G>A (p.Gly604=) n.1747G>A c.1815G>A (p.Gly605=) c.6136G>A c.6594G>A (p.Gly2198=) c.705-454G>A (n.705-454G>A) c.3916G>A c.6318G>A (p.Gly2106=) c.6030G>A (p.Gly2010=) c.3558G>A (p.Gly1186=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35733143G>C | CA507308678 | KMT2B | n.900G>C c.6528G>C (p.Gly2176=) c.4135G>C (n.4135G>C) c.1812G>C (p.Gly604=) n.1747G>C c.1815G>C (p.Gly605=) c.6136G>C c.6594G>C (p.Gly2198=) c.705-454G>C (n.705-454G>C) c.3916G>C c.6318G>C (p.Gly2106=) c.6030G>C (p.Gly2010=) c.3558G>C (p.Gly1186=) | |
19 | g.35733143G= | CA2333794679 | KMT2B | n.900G= c.6528G= (p.Gly2176=) c.4135G= (n.4135G=) c.1812G= (p.Gly604=) n.1747G= c.1815G= (p.Gly605=) c.6136G= c.6594G= (p.Gly2198=) c.705-454G= (n.705-454G=) c.3916G= c.6318G= (p.Gly2106=) c.6030G= (p.Gly2010=) c.3558G= (p.Gly1186=) | |
19 | g.35733143G>T | CA507308679 | KMT2B | n.900G>T c.6528G>T (p.Gly2176=) c.4135G>T (n.4135G>T) c.1812G>T (p.Gly604=) n.1747G>T c.1815G>T (p.Gly605=) c.6136G>T c.6594G>T (p.Gly2198=) c.705-454G>T (n.705-454G>T) c.3916G>T c.6318G>T (p.Gly2106=) c.6030G>T (p.Gly2010=) c.3558G>T (p.Gly1186=) | gnomAD v4 |
19 | g.35733144C>A | CA405429440 | KMT2B | n.901C>A c.6529C>A (p.Gln2177Lys) c.4136C>A (n.4136C>A) c.1813C>A (p.Gln605Lys) n.1748C>A c.1816C>A (p.Gln606Lys) c.6137C>A c.6595C>A (p.Gln2199Lys) c.705-453C>A (n.705-453C>A) c.3917C>A c.6319C>A (p.Gln2107Lys) c.6031C>A (p.Gln2011Lys) c.3559C>A (p.Gln1187Lys) | gnomAD v4 |
19 | g.35733144C>G | CA405429441 | KMT2B | n.901C>G c.6529C>G (p.Gln2177Glu) c.4136C>G (n.4136C>G) c.1813C>G (p.Gln605Glu) n.1748C>G c.1816C>G (p.Gln606Glu) c.6137C>G c.6595C>G (p.Gln2199Glu) c.705-453C>G (n.705-453C>G) c.3917C>G c.6319C>G (p.Gln2107Glu) c.6031C>G (p.Gln2011Glu) c.3559C>G (p.Gln1187Glu) | |
19 | g.35733144C>T | CA405429442 | KMT2B | n.901C>T c.6529C>T (p.Gln2177Ter) c.4136C>T (n.4136C>T) c.1813C>T (p.Gln605Ter) n.1748C>T c.1816C>T (p.Gln606Ter) c.6137C>T c.6595C>T (p.Gln2199Ter) c.705-453C>T (n.705-453C>T) c.3917C>T c.6319C>T (p.Gln2107Ter) c.6031C>T (p.Gln2011Ter) c.3559C>T (p.Gln1187Ter) | |
19 | g.35733145A>C | CA405429445 | KMT2B | n.902A>C c.6530A>C (p.Gln2177Pro) c.4137A>C (n.4137A>C) c.1814A>C (p.Gln605Pro) n.1749A>C c.1817A>C (p.Gln606Pro) c.6138A>C c.6596A>C (p.Gln2199Pro) c.705-452A>C (n.705-452A>C) c.3918A>C c.6320A>C (p.Gln2107Pro) c.6032A>C (p.Gln2011Pro) c.3560A>C (p.Gln1187Pro) | |
19 | g.35733145A>G | CA405429447 | KMT2B | n.902A>G c.6530A>G (p.Gln2177Arg) c.4137A>G (n.4137A>G) c.1814A>G (p.Gln605Arg) n.1749A>G c.1817A>G (p.Gln606Arg) c.6138A>G c.6596A>G (p.Gln2199Arg) c.705-452A>G (n.705-452A>G) c.3918A>G c.6320A>G (p.Gln2107Arg) c.6032A>G (p.Gln2011Arg) c.3560A>G (p.Gln1187Arg) | gnomAD v4 |
19 | g.35733145A>T | CA405429448 | KMT2B | n.902A>T c.6530A>T (p.Gln2177Leu) c.4137A>T (n.4137A>T) c.1814A>T (p.Gln605Leu) n.1749A>T c.1817A>T (p.Gln606Leu) c.6138A>T c.6596A>T (p.Gln2199Leu) c.705-452A>T (n.705-452A>T) c.3918A>T c.6320A>T (p.Gln2107Leu) c.6032A>T (p.Gln2011Leu) c.3560A>T (p.Gln1187Leu) | |
19 | g.35733146A= | CA2333794680 | KMT2B | n.903A= c.6531A= (p.Gln2177=) c.4138A= (n.4138A=) c.1815A= (p.Gln605=) n.1750A= c.1818A= (p.Gln606=) c.6139A= c.6597A= (p.Gln2199=) c.705-451A= (n.705-451A=) c.3919A= c.6321A= (p.Gln2107=) c.6033A= (p.Gln2011=) c.3561A= (p.Gln1187=) | |
19 | g.35733146A>C | CA405429451 | KMT2B | n.903A>C c.6531A>C (p.Gln2177His) c.4138A>C (n.4138A>C) c.1815A>C (p.Gln605His) n.1750A>C c.1818A>C (p.Gln606His) c.6139A>C c.6597A>C (p.Gln2199His) c.705-451A>C (n.705-451A>C) c.3919A>C c.6321A>C (p.Gln2107His) c.6033A>C (p.Gln2011His) c.3561A>C (p.Gln1187His) | |
19 | g.35733146A>G | CA507308688 | KMT2B | n.903A>G c.6531A>G (p.Gln2177=) c.4138A>G (n.4138A>G) c.1815A>G (p.Gln605=) n.1750A>G c.1818A>G (p.Gln606=) c.6139A>G c.6597A>G (p.Gln2199=) c.705-451A>G (n.705-451A>G) c.3919A>G c.6321A>G (p.Gln2107=) c.6033A>G (p.Gln2011=) c.3561A>G (p.Gln1187=) | dbSNP gnomAD v4 |
19 | g.35733146A>T | CA405429453 | KMT2B | n.903A>T c.6531A>T (p.Gln2177His) c.4138A>T (n.4138A>T) c.1815A>T (p.Gln605His) n.1750A>T c.1818A>T (p.Gln606His) c.6139A>T c.6597A>T (p.Gln2199His) c.705-451A>T (n.705-451A>T) c.3919A>T c.6321A>T (p.Gln2107His) c.6033A>T (p.Gln2011His) c.3561A>T (p.Gln1187His) | |
19 | g.35733147G>A | CA405429456 | KMT2B | n.904G>A c.6532G>A (p.Val2178Ile) c.4139G>A (n.4139G>A) c.1816G>A (p.Val606Ile) n.1751G>A c.1819G>A (p.Val607Ile) c.6140G>A c.6598G>A (p.Val2200Ile) c.705-450G>A (n.705-450G>A) c.3920G>A c.6322G>A (p.Val2108Ile) c.6034G>A (p.Val2012Ile) c.3562G>A (p.Val1188Ile) | |
19 | g.35733147G>C | CA405429458 | KMT2B | n.904G>C c.6532G>C (p.Val2178Leu) c.4139G>C (n.4139G>C) c.1816G>C (p.Val606Leu) n.1751G>C c.1819G>C (p.Val607Leu) c.6140G>C c.6598G>C (p.Val2200Leu) c.705-450G>C (n.705-450G>C) c.3920G>C c.6322G>C (p.Val2108Leu) c.6034G>C (p.Val2012Leu) c.3562G>C (p.Val1188Leu) | |
19 | g.35733147G>T | CA405429459 | KMT2B | n.904G>T c.6532G>T (p.Val2178Leu) c.4139G>T (n.4139G>T) c.1816G>T (p.Val606Leu) n.1751G>T c.1819G>T (p.Val607Leu) c.6140G>T c.6598G>T (p.Val2200Leu) c.705-450G>T (n.705-450G>T) c.3920G>T c.6322G>T (p.Val2108Leu) c.6034G>T (p.Val2012Leu) c.3562G>T (p.Val1188Leu) | |
19 | g.35733148T>A | CA405429462 | KMT2B | n.905T>A c.6533T>A (p.Val2178Glu) c.4140T>A (n.4140T>A) c.1817T>A (p.Val606Glu) n.1752T>A c.1820T>A (p.Val607Glu) c.6141T>A c.6599T>A (p.Val2200Glu) c.705-449T>A (n.705-449T>A) c.3921T>A c.6323T>A (p.Val2108Glu) c.6035T>A (p.Val2012Glu) c.3563T>A (p.Val1188Glu) | |
19 | g.35733148T>C | CA9385727 | KMT2B | n.905T>C c.6533T>C (p.Val2178Ala) c.4140T>C (n.4140T>C) c.1817T>C (p.Val606Ala) n.1752T>C c.1820T>C (p.Val607Ala) c.6141T>C c.6599T>C (p.Val2200Ala) c.705-449T>C (n.705-449T>C) c.3921T>C c.6323T>C (p.Val2108Ala) c.6035T>C (p.Val2012Ala) c.3563T>C (p.Val1188Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733148T>G | CA405429465 | KMT2B | n.905T>G c.6533T>G (p.Val2178Gly) c.4140T>G (n.4140T>G) c.1817T>G (p.Val606Gly) n.1752T>G c.1820T>G (p.Val607Gly) c.6141T>G c.6599T>G (p.Val2200Gly) c.705-449T>G (n.705-449T>G) c.3921T>G c.6323T>G (p.Val2108Gly) c.6035T>G (p.Val2012Gly) c.3563T>G (p.Val1188Gly) | |
19 | g.35733148T= | CA2333794681 | KMT2B | n.905T= c.6533T= (p.Val2178=) c.4140T= (n.4140T=) c.1817T= (p.Val606=) n.1752T= c.1820T= (p.Val607=) c.6141T= c.6599T= (p.Val2200=) c.705-449T= (n.705-449T=) c.3921T= c.6323T= (p.Val2108=) c.6035T= (p.Val2012=) c.3563T= (p.Val1188=) | |
19 | g.35733149A>C | CA507308696 | KMT2B | n.906A>C c.6534A>C (p.Val2178=) c.4141A>C (n.4141A>C) c.1818A>C (p.Val606=) n.1753A>C c.1821A>C (p.Val607=) c.6142A>C c.6600A>C (p.Val2200=) c.705-448A>C (n.705-448A>C) c.3922A>C c.6324A>C (p.Val2108=) c.6036A>C (p.Val2012=) c.3564A>C (p.Val1188=) | |
19 | g.35733149A>G | CA507308698 | KMT2B | n.906A>G c.6534A>G (p.Val2178=) c.4141A>G (n.4141A>G) c.1818A>G (p.Val606=) n.1753A>G c.1821A>G (p.Val607=) c.6142A>G c.6600A>G (p.Val2200=) c.705-448A>G (n.705-448A>G) c.3922A>G c.6324A>G (p.Val2108=) c.6036A>G (p.Val2012=) c.3564A>G (p.Val1188=) | gnomAD v4 |
19 | g.35733149A>T | CA507308700 | KMT2B | n.906A>T c.6534A>T (p.Val2178=) c.4141A>T (n.4141A>T) c.1818A>T (p.Val606=) n.1753A>T c.1821A>T (p.Val607=) c.6142A>T c.6600A>T (p.Val2200=) c.705-448A>T (n.705-448A>T) c.3922A>T c.6324A>T (p.Val2108=) c.6036A>T (p.Val2012=) c.3564A>T (p.Val1188=) | |
19 | g.35733150T>A | CA405429472 | KMT2B | n.907T>A c.6535T>A (p.Phe2179Ile) c.4142T>A (n.4142T>A) c.1819T>A (p.Phe607Ile) n.1754T>A c.1822T>A (p.Phe608Ile) c.6143T>A c.6601T>A (p.Phe2201Ile) c.705-447T>A (n.705-447T>A) c.3923T>A c.6325T>A (p.Phe2109Ile) c.6037T>A (p.Phe2013Ile) c.3565T>A (p.Phe1189Ile) | |
19 | g.35733150T>C | CA405429468 | KMT2B | n.907T>C c.6535T>C (p.Phe2179Leu) c.4142T>C (n.4142T>C) c.1819T>C (p.Phe607Leu) n.1754T>C c.1822T>C (p.Phe608Leu) c.6143T>C c.6601T>C (p.Phe2201Leu) c.705-447T>C (n.705-447T>C) c.3923T>C c.6325T>C (p.Phe2109Leu) c.6037T>C (p.Phe2013Leu) c.3565T>C (p.Phe1189Leu) | gnomAD v4 |
19 | g.35733150T>G | CA405429470 | KMT2B | n.907T>G c.6535T>G (p.Phe2179Val) c.4142T>G (n.4142T>G) c.1819T>G (p.Phe607Val) n.1754T>G c.1822T>G (p.Phe608Val) c.6143T>G c.6601T>G (p.Phe2201Val) c.705-447T>G (n.705-447T>G) c.3923T>G c.6325T>G (p.Phe2109Val) c.6037T>G (p.Phe2013Val) c.3565T>G (p.Phe1189Val) | |
19 | g.35733151T>A | CA405429474 | KMT2B | n.908T>A c.6536T>A (p.Phe2179Tyr) c.4143T>A (n.4143T>A) c.1820T>A (p.Phe607Tyr) n.1755T>A c.1823T>A (p.Phe608Tyr) c.6144T>A c.6602T>A (p.Phe2201Tyr) c.705-446T>A (n.705-446T>A) c.3924T>A c.6326T>A (p.Phe2109Tyr) c.6038T>A (p.Phe2013Tyr) c.3566T>A (p.Phe1189Tyr) | |
19 | g.35733151T>C | CA405429476 | KMT2B | n.908T>C c.6536T>C (p.Phe2179Ser) c.4143T>C (n.4143T>C) c.1820T>C (p.Phe607Ser) n.1755T>C c.1823T>C (p.Phe608Ser) c.6144T>C c.6602T>C (p.Phe2201Ser) c.705-446T>C (n.705-446T>C) c.3924T>C c.6326T>C (p.Phe2109Ser) c.6038T>C (p.Phe2013Ser) c.3566T>C (p.Phe1189Ser) | |
19 | g.35733151T>G | CA405429478 | KMT2B | n.908T>G c.6536T>G (p.Phe2179Cys) c.4143T>G (n.4143T>G) c.1820T>G (p.Phe607Cys) n.1755T>G c.1823T>G (p.Phe608Cys) c.6144T>G c.6602T>G (p.Phe2201Cys) c.705-446T>G (n.705-446T>G) c.3924T>G c.6326T>G (p.Phe2109Cys) c.6038T>G (p.Phe2013Cys) c.3566T>G (p.Phe1189Cys) |