Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
19 | g.35733152T>A | CA405429481 | KMT2B | n.909T>A c.6537T>A (p.Phe2179Leu) c.4144T>A (n.4144T>A) c.1821T>A (p.Phe607Leu) n.1756T>A c.1824T>A (p.Phe608Leu) c.6145T>A c.6603T>A (p.Phe2201Leu) c.705-445T>A (n.705-445T>A) c.3925T>A c.6327T>A (p.Phe2109Leu) c.6039T>A (p.Phe2013Leu) c.3567T>A (p.Phe1189Leu) | |
19 | g.35733152T>C | CA507308706 | KMT2B | n.909T>C c.6537T>C (p.Phe2179=) c.4144T>C (n.4144T>C) c.1821T>C (p.Phe607=) n.1756T>C c.1824T>C (p.Phe608=) c.6145T>C c.6603T>C (p.Phe2201=) c.705-445T>C (n.705-445T>C) c.3925T>C c.6327T>C (p.Phe2109=) c.6039T>C (p.Phe2013=) c.3567T>C (p.Phe1189=) | gnomAD v4 |
19 | g.35733152T>G | CA405429483 | KMT2B | n.909T>G c.6537T>G (p.Phe2179Leu) c.4144T>G (n.4144T>G) c.1821T>G (p.Phe607Leu) n.1756T>G c.1824T>G (p.Phe608Leu) c.6145T>G c.6603T>G (p.Phe2201Leu) c.705-445T>G (n.705-445T>G) c.3925T>G c.6327T>G (p.Phe2109Leu) c.6039T>G (p.Phe2013Leu) c.3567T>G (p.Phe1189Leu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35733152T= | CA2333794682 | KMT2B | n.909T= c.6537T= (p.Phe2179=) c.4144T= (n.4144T=) c.1821T= (p.Phe607=) n.1756T= c.1824T= (p.Phe608=) c.6145T= c.6603T= (p.Phe2201=) c.705-445T= (n.705-445T=) c.3925T= c.6327T= (p.Phe2109=) c.6039T= (p.Phe2013=) c.3567T= (p.Phe1189=) | |
19 | g.35733154_35733155del | CA2576757229 | KMT2B | n.911_912del c.6539_6540del (p.Val2180GlufsTer7) c.4146_4147del (n.4146_4147del) c.1823_1824del (p.Val608GlufsTer7) n.1758_1759del c.1826_1827del (p.Val609GlufsTer7) c.6147_6148del c.6605_6606del (p.Val2202GlufsTer7) c.705-443_705-442del (n.705-443_705-442del) c.3927_3928del c.6329_6330del (p.Val2110GlufsTer7) c.6041_6042del (p.Val2014GlufsTer7) c.3569_3570del (p.Val1190GlufsTer7) | |
19 | g.35733153G>A | CA9385728 | KMT2B | n.910G>A c.6538G>A (p.Val2180Met) c.4145G>A (n.4145G>A) c.1822G>A (p.Val608Met) n.1757G>A c.1825G>A (p.Val609Met) c.6146G>A c.6604G>A (p.Val2202Met) c.705-444G>A (n.705-444G>A) c.3926G>A c.6328G>A (p.Val2110Met) c.6040G>A (p.Val2014Met) c.3568G>A (p.Val1190Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35733153G>C | CA405429486 | KMT2B | n.910G>C c.6538G>C (p.Val2180Leu) c.4145G>C (n.4145G>C) c.1822G>C (p.Val608Leu) n.1757G>C c.1825G>C (p.Val609Leu) c.6146G>C c.6604G>C (p.Val2202Leu) c.705-444G>C (n.705-444G>C) c.3926G>C c.6328G>C (p.Val2110Leu) c.6040G>C (p.Val2014Leu) c.3568G>C (p.Val1190Leu) | |
19 | g.35733153G= | CA2333794683 | KMT2B | n.910G= c.6538G= (p.Val2180=) c.4145G= (n.4145G=) c.1822G= (p.Val608=) n.1757G= c.1825G= (p.Val609=) c.6146G= c.6604G= (p.Val2202=) c.705-444G= (n.705-444G=) c.3926G= c.6328G= (p.Val2110=) c.6040G= (p.Val2014=) c.3568G= (p.Val1190=) | |
19 | g.35733153G>T | CA405429485 | KMT2B | n.910G>T c.6538G>T (p.Val2180Leu) c.4145G>T (n.4145G>T) c.1822G>T (p.Val608Leu) n.1757G>T c.1825G>T (p.Val609Leu) c.6146G>T c.6604G>T (p.Val2202Leu) c.705-444G>T (n.705-444G>T) c.3926G>T c.6328G>T (p.Val2110Leu) c.6040G>T (p.Val2014Leu) c.3568G>T (p.Val1190Leu) | gnomAD v4 |
19 | g.35733154T>A | CA405429488 | KMT2B | n.911T>A c.6539T>A (p.Val2180Glu) c.4146T>A (n.4146T>A) c.1823T>A (p.Val608Glu) n.1758T>A c.1826T>A (p.Val609Glu) c.6147T>A c.6605T>A (p.Val2202Glu) c.705-443T>A (n.705-443T>A) c.3927T>A c.6329T>A (p.Val2110Glu) c.6041T>A (p.Val2014Glu) c.3569T>A (p.Val1190Glu) | |
19 | g.35733154T>C | CA405429489 | KMT2B | n.911T>C c.6539T>C (p.Val2180Ala) c.4146T>C (n.4146T>C) c.1823T>C (p.Val608Ala) n.1758T>C c.1826T>C (p.Val609Ala) c.6147T>C c.6605T>C (p.Val2202Ala) c.705-443T>C (n.705-443T>C) c.3927T>C c.6329T>C (p.Val2110Ala) c.6041T>C (p.Val2014Ala) c.3569T>C (p.Val1190Ala) | gnomAD v4 |
19 | g.35733154T>G | CA405429492 | KMT2B | n.911T>G c.6539T>G (p.Val2180Gly) c.4146T>G (n.4146T>G) c.1823T>G (p.Val608Gly) n.1758T>G c.1826T>G (p.Val609Gly) c.6147T>G c.6605T>G (p.Val2202Gly) c.705-443T>G (n.705-443T>G) c.3927T>G c.6329T>G (p.Val2110Gly) c.6041T>G (p.Val2014Gly) c.3569T>G (p.Val1190Gly) | |
19 | g.35733155G>A | CA507308711 | KMT2B | n.912G>A c.6540G>A (p.Val2180=) c.4147G>A (n.4147G>A) c.1824G>A (p.Val608=) n.1759G>A c.1827G>A (p.Val609=) c.6148G>A c.6606G>A (p.Val2202=) c.705-442G>A (n.705-442G>A) c.3928G>A c.6330G>A (p.Val2110=) c.6042G>A (p.Val2014=) c.3570G>A (p.Val1190=) | gnomAD v4 |
19 | g.35733155G>C | CA507308712 | KMT2B | n.912G>C c.6540G>C (p.Val2180=) c.4147G>C (n.4147G>C) c.1824G>C (p.Val608=) n.1759G>C c.1827G>C (p.Val609=) c.6148G>C c.6606G>C (p.Val2202=) c.705-442G>C (n.705-442G>C) c.3928G>C c.6330G>C (p.Val2110=) c.6042G>C (p.Val2014=) c.3570G>C (p.Val1190=) | |
19 | g.35733155G>T | CA507308713 | KMT2B | n.912G>T c.6540G>T (p.Val2180=) c.4147G>T (n.4147G>T) c.1824G>T (p.Val608=) n.1759G>T c.1827G>T (p.Val609=) c.6148G>T c.6606G>T (p.Val2202=) c.705-442G>T (n.705-442G>T) c.3928G>T c.6330G>T (p.Val2110=) c.6042G>T (p.Val2014=) c.3570G>T (p.Val1190=) | |
19 | g.35733156A>C | CA405429495 | KMT2B | n.913A>C c.6541A>C (p.Lys2181Gln) c.4148A>C (n.4148A>C) c.1825A>C (p.Lys609Gln) n.1760A>C c.1828A>C (p.Lys610Gln) c.6149A>C c.6607A>C (p.Lys2203Gln) c.705-441A>C (n.705-441A>C) c.3929A>C c.6331A>C (p.Lys2111Gln) c.6043A>C (p.Lys2015Gln) c.3571A>C (p.Lys1191Gln) | |
19 | g.35733156A>G | CA405429497 | KMT2B | n.913A>G c.6541A>G (p.Lys2181Glu) c.4148A>G (n.4148A>G) c.1825A>G (p.Lys609Glu) n.1760A>G c.1828A>G (p.Lys610Glu) c.6149A>G c.6607A>G (p.Lys2203Glu) c.705-441A>G (n.705-441A>G) c.3929A>G c.6331A>G (p.Lys2111Glu) c.6043A>G (p.Lys2015Glu) c.3571A>G (p.Lys1191Glu) | |
19 | g.35733156A>T | CA405429499 | KMT2B | n.913A>T c.6541A>T (p.Lys2181Ter) c.4148A>T (n.4148A>T) c.1825A>T (p.Lys609Ter) n.1760A>T c.1828A>T (p.Lys610Ter) c.6149A>T c.6607A>T (p.Lys2203Ter) c.705-441A>T (n.705-441A>T) c.3929A>T c.6331A>T (p.Lys2111Ter) c.6043A>T (p.Lys2015Ter) c.3571A>T (p.Lys1191Ter) | |
19 | g.35733157A>C | CA405429501 | KMT2B | n.914A>C c.6542A>C (p.Lys2181Thr) c.4149A>C (n.4149A>C) c.1826A>C (p.Lys609Thr) n.1761A>C c.1829A>C (p.Lys610Thr) c.6150A>C c.6608A>C (p.Lys2203Thr) c.705-440A>C (n.705-440A>C) c.3930A>C c.6332A>C (p.Lys2111Thr) c.6044A>C (p.Lys2015Thr) c.3572A>C (p.Lys1191Thr) | gnomAD v4 |
19 | g.35733157A>G | CA405429503 | KMT2B | n.914A>G c.6542A>G (p.Lys2181Arg) c.4149A>G (n.4149A>G) c.1826A>G (p.Lys609Arg) n.1761A>G c.1829A>G (p.Lys610Arg) c.6150A>G c.6608A>G (p.Lys2203Arg) c.705-440A>G (n.705-440A>G) c.3930A>G c.6332A>G (p.Lys2111Arg) c.6044A>G (p.Lys2015Arg) c.3572A>G (p.Lys1191Arg) | gnomAD v4 |
19 | g.35733157A>T | CA405429505 | KMT2B | n.914A>T c.6542A>T (p.Lys2181Met) c.4149A>T (n.4149A>T) c.1826A>T (p.Lys609Met) n.1761A>T c.1829A>T (p.Lys610Met) c.6150A>T c.6608A>T (p.Lys2203Met) c.705-440A>T (n.705-440A>T) c.3930A>T c.6332A>T (p.Lys2111Met) c.6044A>T (p.Lys2015Met) c.3572A>T (p.Lys1191Met) | |
19 | g.35733158G>A | CA507308723 | KMT2B | n.915G>A c.6543G>A (p.Lys2181=) c.4150G>A (n.4150G>A) c.1827G>A (p.Lys609=) n.1762G>A c.1830G>A (p.Lys610=) c.6151G>A c.6609G>A (p.Lys2203=) c.705-439G>A (n.705-439G>A) c.3931G>A c.6333G>A (p.Lys2111=) c.6045G>A (p.Lys2015=) c.3573G>A (p.Lys1191=) | gnomAD v4 |
19 | g.35733158G>C | CA405429508 | KMT2B | n.915G>C c.6543G>C (p.Lys2181Asn) c.4150G>C (n.4150G>C) c.1827G>C (p.Lys609Asn) n.1762G>C c.1830G>C (p.Lys610Asn) c.6151G>C c.6609G>C (p.Lys2203Asn) c.705-439G>C (n.705-439G>C) c.3931G>C c.6333G>C (p.Lys2111Asn) c.6045G>C (p.Lys2015Asn) c.3573G>C (p.Lys1191Asn) | |
19 | g.35733158G>T | CA405429509 | KMT2B | n.915G>T c.6543G>T (p.Lys2181Asn) c.4150G>T (n.4150G>T) c.1827G>T (p.Lys609Asn) n.1762G>T c.1830G>T (p.Lys610Asn) c.6151G>T c.6609G>T (p.Lys2203Asn) c.705-439G>T (n.705-439G>T) c.3931G>T c.6333G>T (p.Lys2111Asn) c.6045G>T (p.Lys2015Asn) c.3573G>T (p.Lys1191Asn) | gnomAD v4 |
19 | g.35733159A= | CA2333794684 | KMT2B | n.916A= c.6544A= (p.Met2182=) c.4151A= (n.4151A=) c.1828A= (p.Met610=) n.1763A= c.1831A= (p.Met611=) c.6152A= c.6610A= (p.Met2204=) c.705-438A= (n.705-438A=) c.3932A= c.6334A= (p.Met2112=) c.6046A= (p.Met2016=) c.3574A= (p.Met1192=) | |
19 | g.35733159A>C | CA405429512 | KMT2B | n.916A>C c.6544A>C (p.Met2182Leu) c.4151A>C (n.4151A>C) c.1828A>C (p.Met610Leu) n.1763A>C c.1831A>C (p.Met611Leu) c.6152A>C c.6610A>C (p.Met2204Leu) c.705-438A>C (n.705-438A>C) c.3932A>C c.6334A>C (p.Met2112Leu) c.6046A>C (p.Met2016Leu) c.3574A>C (p.Met1192Leu) | |
19 | g.35733159A>G | CA405429516 | KMT2B | n.916A>G c.6544A>G (p.Met2182Val) c.4151A>G (n.4151A>G) c.1828A>G (p.Met610Val) n.1763A>G c.1831A>G (p.Met611Val) c.6152A>G c.6610A>G (p.Met2204Val) c.705-438A>G (n.705-438A>G) c.3932A>G c.6334A>G (p.Met2112Val) c.6046A>G (p.Met2016Val) c.3574A>G (p.Met1192Val) | dbSNP gnomAD v4 |
19 | g.35733159A>T | CA405429514 | KMT2B | n.916A>T c.6544A>T (p.Met2182Leu) c.4151A>T (n.4151A>T) c.1828A>T (p.Met610Leu) n.1763A>T c.1831A>T (p.Met611Leu) c.6152A>T c.6610A>T (p.Met2204Leu) c.705-438A>T (n.705-438A>T) c.3932A>T c.6334A>T (p.Met2112Leu) c.6046A>T (p.Met2016Leu) c.3574A>T (p.Met1192Leu) | |
19 | g.35733160T>A | CA405429519 | KMT2B | n.917T>A c.6545T>A (p.Met2182Lys) c.4152T>A (n.4152T>A) c.1829T>A (p.Met610Lys) n.1764T>A c.1832T>A (p.Met611Lys) c.6153T>A c.6611T>A (p.Met2204Lys) c.705-437T>A (n.705-437T>A) c.3933T>A c.6335T>A (p.Met2112Lys) c.6047T>A (p.Met2016Lys) c.3575T>A (p.Met1192Lys) | |
19 | g.35733160T>C | CA405429520 | KMT2B | n.917T>C c.6545T>C (p.Met2182Thr) c.4152T>C (n.4152T>C) c.1829T>C (p.Met610Thr) n.1764T>C c.1832T>C (p.Met611Thr) c.6153T>C c.6611T>C (p.Met2204Thr) c.705-437T>C (n.705-437T>C) c.3933T>C c.6335T>C (p.Met2112Thr) c.6047T>C (p.Met2016Thr) c.3575T>C (p.Met1192Thr) | |
19 | g.35733160T>G | CA405429522 | KMT2B | n.917T>G c.6545T>G (p.Met2182Arg) c.4152T>G (n.4152T>G) c.1829T>G (p.Met610Arg) n.1764T>G c.1832T>G (p.Met611Arg) c.6153T>G c.6611T>G (p.Met2204Arg) c.705-437T>G (n.705-437T>G) c.3933T>G c.6335T>G (p.Met2112Arg) c.6047T>G (p.Met2016Arg) c.3575T>G (p.Met1192Arg) | |
19 | g.35733161G>A | CA405429525 | KMT2B | n.918G>A c.6546G>A (p.Met2182Ile) c.4153G>A (n.4153G>A) c.1830G>A (p.Met610Ile) n.1765G>A c.1833G>A (p.Met611Ile) c.6154G>A c.6612G>A (p.Met2204Ile) c.705-436G>A (n.705-436G>A) c.3934G>A c.6336G>A (p.Met2112Ile) c.6048G>A (p.Met2016Ile) c.3576G>A (p.Met1192Ile) | gnomAD v4 |
19 | g.35733161G>C | CA405429527 | KMT2B | n.918G>C c.6546G>C (p.Met2182Ile) c.4153G>C (n.4153G>C) c.1830G>C (p.Met610Ile) n.1765G>C c.1833G>C (p.Met611Ile) c.6154G>C c.6612G>C (p.Met2204Ile) c.705-436G>C (n.705-436G>C) c.3934G>C c.6336G>C (p.Met2112Ile) c.6048G>C (p.Met2016Ile) c.3576G>C (p.Met1192Ile) | |
19 | g.35733161G>T | CA405429529 | KMT2B | n.918G>T c.6546G>T (p.Met2182Ile) c.4153G>T (n.4153G>T) c.1830G>T (p.Met610Ile) n.1765G>T c.1833G>T (p.Met611Ile) c.6154G>T c.6612G>T (p.Met2204Ile) c.705-436G>T (n.705-436G>T) c.3934G>T c.6336G>T (p.Met2112Ile) c.6048G>T (p.Met2016Ile) c.3576G>T (p.Met1192Ile) | gnomAD v4 |
19 | g.35733162G>A | CA405429535 | KMT2B | n.919G>A c.6547G>A (p.Ala2183Thr) c.4154G>A (n.4154G>A) c.1831G>A (p.Ala611Thr) n.1766G>A c.1834G>A (p.Ala612Thr) c.6155G>A c.6613G>A (p.Ala2205Thr) c.705-435G>A (n.705-435G>A) c.3935G>A c.6337G>A (p.Ala2113Thr) c.6049G>A (p.Ala2017Thr) c.3577G>A (p.Ala1193Thr) | gnomAD v4 |
19 | g.35733162G>C | CA405429534 | KMT2B | n.919G>C c.6547G>C (p.Ala2183Pro) c.4154G>C (n.4154G>C) c.1831G>C (p.Ala611Pro) n.1766G>C c.1834G>C (p.Ala612Pro) c.6155G>C c.6613G>C (p.Ala2205Pro) c.705-435G>C (n.705-435G>C) c.3935G>C c.6337G>C (p.Ala2113Pro) c.6049G>C (p.Ala2017Pro) c.3577G>C (p.Ala1193Pro) | |
19 | g.35733162G>T | CA405429531 | KMT2B | n.919G>T c.6547G>T (p.Ala2183Ser) c.4154G>T (n.4154G>T) c.1831G>T (p.Ala611Ser) n.1766G>T c.1834G>T (p.Ala612Ser) c.6155G>T c.6613G>T (p.Ala2205Ser) c.705-435G>T (n.705-435G>T) c.3935G>T c.6337G>T (p.Ala2113Ser) c.6049G>T (p.Ala2017Ser) c.3577G>T (p.Ala1193Ser) | gnomAD v4 |
19 | g.35733163C>A | CA405429538 | KMT2B | n.920C>A c.6548C>A (p.Ala2183Asp) c.4155C>A (n.4155C>A) c.1832C>A (p.Ala611Asp) n.1767C>A c.1835C>A (p.Ala612Asp) c.6156C>A c.6614C>A (p.Ala2205Asp) c.705-434C>A (n.705-434C>A) c.3936C>A c.6338C>A (p.Ala2113Asp) c.6050C>A (p.Ala2017Asp) c.3578C>A (p.Ala1193Asp) | gnomAD v4 |
19 | g.35733163C= | CA2333794685 | KMT2B | n.920C= c.6548C= (p.Ala2183=) c.4155C= (n.4155C=) c.1832C= (p.Ala611=) n.1767C= c.1835C= (p.Ala612=) c.6156C= c.6614C= (p.Ala2205=) c.705-434C= (n.705-434C=) c.3936C= c.6338C= (p.Ala2113=) c.6050C= (p.Ala2017=) c.3578C= (p.Ala1193=) | |
19 | g.35733163C>G | CA405429540 | KMT2B | n.920C>G c.6548C>G (p.Ala2183Gly) c.4155C>G (n.4155C>G) c.1832C>G (p.Ala611Gly) n.1767C>G c.1835C>G (p.Ala612Gly) c.6156C>G c.6614C>G (p.Ala2205Gly) c.705-434C>G (n.705-434C>G) c.3936C>G c.6338C>G (p.Ala2113Gly) c.6050C>G (p.Ala2017Gly) c.3578C>G (p.Ala1193Gly) | |
19 | g.35733163C>T | CA405429541 | KMT2B | n.920C>T c.6548C>T (p.Ala2183Val) c.4155C>T (n.4155C>T) c.1832C>T (p.Ala611Val) n.1767C>T c.1835C>T (p.Ala612Val) c.6156C>T c.6614C>T (p.Ala2205Val) c.705-434C>T (n.705-434C>T) c.3936C>T c.6338C>T (p.Ala2113Val) c.6050C>T (p.Ala2017Val) c.3578C>T (p.Ala1193Val) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35733164T>A | CA507308729 | KMT2B | n.921T>A c.6549T>A (p.Ala2183=) c.4156T>A (n.4156T>A) c.1833T>A (p.Ala611=) n.1768T>A c.1836T>A (p.Ala612=) c.6157T>A c.6615T>A (p.Ala2205=) c.705-433T>A (n.705-433T>A) c.3937T>A c.6339T>A (p.Ala2113=) c.6051T>A (p.Ala2017=) c.3579T>A (p.Ala1193=) | |
19 | g.35733164T>C | CA507308733 | KMT2B | n.921T>C c.6549T>C (p.Ala2183=) c.4156T>C (n.4156T>C) c.1833T>C (p.Ala611=) n.1768T>C c.1836T>C (p.Ala612=) c.6157T>C c.6615T>C (p.Ala2205=) c.705-433T>C (n.705-433T>C) c.3937T>C c.6339T>C (p.Ala2113=) c.6051T>C (p.Ala2017=) c.3579T>C (p.Ala1193=) | gnomAD v4 |
19 | g.35733164T>G | CA507308736 | KMT2B | n.921T>G c.6549T>G (p.Ala2183=) c.4156T>G (n.4156T>G) c.1833T>G (p.Ala611=) n.1768T>G c.1836T>G (p.Ala612=) c.6157T>G c.6615T>G (p.Ala2205=) c.705-433T>G (n.705-433T>G) c.3937T>G c.6339T>G (p.Ala2113=) c.6051T>G (p.Ala2017=) c.3579T>G (p.Ala1193=) | |
19 | g.35733165G>A | CA405429543 | KMT2B | n.922G>A c.6550G>A (p.Gly2184Arg) c.4157G>A (n.4157G>A) c.1834G>A (p.Gly612Arg) n.1769G>A c.1837G>A (p.Gly613Arg) c.6158G>A c.6616G>A (p.Gly2206Arg) c.705-432G>A (n.705-432G>A) c.3938G>A c.6340G>A (p.Gly2114Arg) c.6052G>A (p.Gly2018Arg) c.3580G>A (p.Gly1194Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733165G>C | CA405429545 | KMT2B | n.922G>C c.6550G>C (p.Gly2184Arg) c.4157G>C (n.4157G>C) c.1834G>C (p.Gly612Arg) n.1769G>C c.1837G>C (p.Gly613Arg) c.6158G>C c.6616G>C (p.Gly2206Arg) c.705-432G>C (n.705-432G>C) c.3938G>C c.6340G>C (p.Gly2114Arg) c.6052G>C (p.Gly2018Arg) c.3580G>C (p.Gly1194Arg) | |
19 | g.35733165G= | CA2333794686 | KMT2B | n.922G= c.6550G= (p.Gly2184=) c.4157G= (n.4157G=) c.1834G= (p.Gly612=) n.1769G= c.1837G= (p.Gly613=) c.6158G= c.6616G= (p.Gly2206=) c.705-432G= (n.705-432G=) c.3938G= c.6340G= (p.Gly2114=) c.6052G= (p.Gly2018=) c.3580G= (p.Gly1194=) | |
19 | g.35733165G>T | CA405429547 | KMT2B | n.922G>T c.6550G>T (p.Gly2184Trp) c.4157G>T (n.4157G>T) c.1834G>T (p.Gly612Trp) n.1769G>T c.1837G>T (p.Gly613Trp) c.6158G>T c.6616G>T (p.Gly2206Trp) c.705-432G>T (n.705-432G>T) c.3938G>T c.6340G>T (p.Gly2114Trp) c.6052G>T (p.Gly2018Trp) c.3580G>T (p.Gly1194Trp) | gnomAD v4 |
19 | g.35733168del | CA2584575167 | KMT2B | n.925del c.6553del (p.Glu2185ArgfsTer9) c.4160del (n.4160del) c.1837del (p.Glu613ArgfsTer9) n.1772del c.1840del (p.Glu614ArgfsTer9) c.6161del c.6619del (p.Glu2207ArgfsTer9) c.705-429del (n.705-429del) c.3941del c.6343del (p.Glu2115ArgfsTer9) c.6055del (p.Glu2019ArgfsTer9) c.3583del (p.Glu1195ArgfsTer9) | gnomAD v4 |
19 | g.35733166G>A | CA405429550 | KMT2B | n.923G>A c.6551G>A (p.Gly2184Glu) c.4158G>A (n.4158G>A) c.1835G>A (p.Gly612Glu) n.1770G>A c.1838G>A (p.Gly613Glu) c.6159G>A c.6617G>A (p.Gly2206Glu) c.705-431G>A (n.705-431G>A) c.3939G>A c.6341G>A (p.Gly2114Glu) c.6053G>A (p.Gly2018Glu) c.3581G>A (p.Gly1194Glu) | gnomAD v4 |
19 | g.35733166G>C | CA405429554 | KMT2B | n.923G>C c.6551G>C (p.Gly2184Ala) c.4158G>C (n.4158G>C) c.1835G>C (p.Gly612Ala) n.1770G>C c.1838G>C (p.Gly613Ala) c.6159G>C c.6617G>C (p.Gly2206Ala) c.705-431G>C (n.705-431G>C) c.3939G>C c.6341G>C (p.Gly2114Ala) c.6053G>C (p.Gly2018Ala) c.3581G>C (p.Gly1194Ala) | dbSNP gnomAD v2 |
19 | g.35733166G= | CA2333794687 | KMT2B | n.923G= c.6551G= (p.Gly2184=) c.4158G= (n.4158G=) c.1835G= (p.Gly612=) n.1770G= c.1838G= (p.Gly613=) c.6159G= c.6617G= (p.Gly2206=) c.705-431G= (n.705-431G=) c.3939G= c.6341G= (p.Gly2114=) c.6053G= (p.Gly2018=) c.3581G= (p.Gly1194=) | |
19 | g.35733166G>T | CA405429552 | KMT2B | n.923G>T c.6551G>T (p.Gly2184Val) c.4158G>T (n.4158G>T) c.1835G>T (p.Gly612Val) n.1770G>T c.1838G>T (p.Gly613Val) c.6159G>T c.6617G>T (p.Gly2206Val) c.705-431G>T (n.705-431G>T) c.3939G>T c.6341G>T (p.Gly2114Val) c.6053G>T (p.Gly2018Val) c.3581G>T (p.Gly1194Val) | gnomAD v4 |
19 | g.35733167G>A | CA507308748 | KMT2B | n.924G>A c.6552G>A (p.Gly2184=) c.4159G>A (n.4159G>A) c.1836G>A (p.Gly612=) n.1771G>A c.1839G>A (p.Gly613=) c.6160G>A c.6618G>A (p.Gly2206=) c.705-430G>A (n.705-430G>A) c.3940G>A c.6342G>A (p.Gly2114=) c.6054G>A (p.Gly2018=) c.3582G>A (p.Gly1194=) | gnomAD v4 |
19 | g.35733167G>C | CA507308750 | KMT2B | n.924G>C c.6552G>C (p.Gly2184=) c.4159G>C (n.4159G>C) c.1836G>C (p.Gly612=) n.1771G>C c.1839G>C (p.Gly613=) c.6160G>C c.6618G>C (p.Gly2206=) c.705-430G>C (n.705-430G>C) c.3940G>C c.6342G>C (p.Gly2114=) c.6054G>C (p.Gly2018=) c.3582G>C (p.Gly1194=) | |
19 | g.35733167G>T | CA507308749 | KMT2B | n.924G>T c.6552G>T (p.Gly2184=) c.4159G>T (n.4159G>T) c.1836G>T (p.Gly612=) n.1771G>T c.1839G>T (p.Gly613=) c.6160G>T c.6618G>T (p.Gly2206=) c.705-430G>T (n.705-430G>T) c.3940G>T c.6342G>T (p.Gly2114=) c.6054G>T (p.Gly2018=) c.3582G>T (p.Gly1194=) | gnomAD v4 |
19 | g.35733168G>A | CA405429556 | KMT2B | n.925G>A c.6553G>A (p.Glu2185Lys) c.4160G>A (n.4160G>A) c.1837G>A (p.Glu613Lys) n.1772G>A c.1840G>A (p.Glu614Lys) c.6161G>A c.6619G>A (p.Glu2207Lys) c.705-429G>A (n.705-429G>A) c.3941G>A c.6343G>A (p.Glu2115Lys) c.6055G>A (p.Glu2019Lys) c.3583G>A (p.Glu1195Lys) | gnomAD v4 |
19 | g.35733168G>C | CA9385729 | KMT2B | n.925G>C c.6553G>C (p.Glu2185Gln) c.4160G>C (n.4160G>C) c.1837G>C (p.Glu613Gln) n.1772G>C c.1840G>C (p.Glu614Gln) c.6161G>C c.6619G>C (p.Glu2207Gln) c.705-429G>C (n.705-429G>C) c.3941G>C c.6343G>C (p.Glu2115Gln) c.6055G>C (p.Glu2019Gln) c.3583G>C (p.Glu1195Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35733168G= | CA2333794688 | KMT2B | n.925G= c.6553G= (p.Glu2185=) c.4160G= (n.4160G=) c.1837G= (p.Glu613=) n.1772G= c.1840G= (p.Glu614=) c.6161G= c.6619G= (p.Glu2207=) c.705-429G= (n.705-429G=) c.3941G= c.6343G= (p.Glu2115=) c.6055G= (p.Glu2019=) c.3583G= (p.Glu1195=) | |
19 | g.35733168G>T | CA405429558 | KMT2B | n.925G>T c.6553G>T (p.Glu2185Ter) c.4160G>T (n.4160G>T) c.1837G>T (p.Glu613Ter) n.1772G>T c.1840G>T (p.Glu614Ter) c.6161G>T c.6619G>T (p.Glu2207Ter) c.705-429G>T (n.705-429G>T) c.3941G>T c.6343G>T (p.Glu2115Ter) c.6055G>T (p.Glu2019Ter) c.3583G>T (p.Glu1195Ter) | gnomAD v4 |
19 | g.35733169del | CA2584575168 | KMT2B | n.926del c.6554del (p.Glu2185GlyfsTer9) c.4161del (n.4161del) c.1838del (p.Glu613GlyfsTer9) n.1773del c.1841del (p.Glu614GlyfsTer9) c.6162del c.6620del (p.Glu2207GlyfsTer9) c.705-428del (n.705-428del) c.3942del c.6344del (p.Glu2115GlyfsTer9) c.6056del (p.Glu2019GlyfsTer9) c.3584del (p.Glu1195GlyfsTer9) | gnomAD v4 |
19 | g.35733169A>C | CA405429561 | KMT2B | n.926A>C c.6554A>C (p.Glu2185Ala) c.4161A>C (n.4161A>C) c.1838A>C (p.Glu613Ala) n.1773A>C c.1841A>C (p.Glu614Ala) c.6162A>C c.6620A>C (p.Glu2207Ala) c.705-428A>C (n.705-428A>C) c.3942A>C c.6344A>C (p.Glu2115Ala) c.6056A>C (p.Glu2019Ala) c.3584A>C (p.Glu1195Ala) | gnomAD v4 |
19 | g.35733169A>G | CA405429563 | KMT2B | n.926A>G c.6554A>G (p.Glu2185Gly) c.4161A>G (n.4161A>G) c.1838A>G (p.Glu613Gly) n.1773A>G c.1841A>G (p.Glu614Gly) c.6162A>G c.6620A>G (p.Glu2207Gly) c.705-428A>G (n.705-428A>G) c.3942A>G c.6344A>G (p.Glu2115Gly) c.6056A>G (p.Glu2019Gly) c.3584A>G (p.Glu1195Gly) | gnomAD v4 |
19 | g.35733169A>T | CA405429566 | KMT2B | n.926A>T c.6554A>T (p.Glu2185Val) c.4161A>T (n.4161A>T) c.1838A>T (p.Glu613Val) n.1773A>T c.1841A>T (p.Glu614Val) c.6162A>T c.6620A>T (p.Glu2207Val) c.705-428A>T (n.705-428A>T) c.3942A>T c.6344A>T (p.Glu2115Val) c.6056A>T (p.Glu2019Val) c.3584A>T (p.Glu1195Val) | |
19 | g.35733170G>A | CA507308763 | KMT2B | n.927G>A c.6555G>A (p.Glu2185=) c.4162G>A (n.4162G>A) c.1839G>A (p.Glu613=) n.1774G>A c.1842G>A (p.Glu614=) c.6163G>A c.6621G>A (p.Glu2207=) c.705-427G>A (n.705-427G>A) c.3943G>A c.6345G>A (p.Glu2115=) c.6057G>A (p.Glu2019=) c.3585G>A (p.Glu1195=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35733170G>C | CA405429568 | KMT2B | n.927G>C c.6555G>C (p.Glu2185Asp) c.4162G>C (n.4162G>C) c.1839G>C (p.Glu613Asp) n.1774G>C c.1842G>C (p.Glu614Asp) c.6163G>C c.6621G>C (p.Glu2207Asp) c.705-427G>C (n.705-427G>C) c.3943G>C c.6345G>C (p.Glu2115Asp) c.6057G>C (p.Glu2019Asp) c.3585G>C (p.Glu1195Asp) | |
19 | g.35733170G= | CA2333794689 | KMT2B | n.927G= c.6555G= (p.Glu2185=) c.4162G= (n.4162G=) c.1839G= (p.Glu613=) n.1774G= c.1842G= (p.Glu614=) c.6163G= c.6621G= (p.Glu2207=) c.705-427G= (n.705-427G=) c.3943G= c.6345G= (p.Glu2115=) c.6057G= (p.Glu2019=) c.3585G= (p.Glu1195=) | |
19 | g.35733170G>T | CA405429570 | KMT2B | n.927G>T c.6555G>T (p.Glu2185Asp) c.4162G>T (n.4162G>T) c.1839G>T (p.Glu613Asp) n.1774G>T c.1842G>T (p.Glu614Asp) c.6163G>T c.6621G>T (p.Glu2207Asp) c.705-427G>T (n.705-427G>T) c.3943G>T c.6345G>T (p.Glu2115Asp) c.6057G>T (p.Glu2019Asp) c.3585G>T (p.Glu1195Asp) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35733171G>A | CA405429572 | KMT2B | n.928G>A c.6556G>A (p.Gly2186Ser) c.4163G>A (n.4163G>A) c.1840G>A (p.Gly614Ser) n.1775G>A c.1843G>A (p.Gly615Ser) c.6164G>A c.6622G>A (p.Gly2208Ser) c.705-426G>A (n.705-426G>A) c.3944G>A c.6346G>A (p.Gly2116Ser) c.6058G>A (p.Gly2020Ser) c.3586G>A (p.Gly1196Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35733171G>C | CA405429574 | KMT2B | n.928G>C c.6556G>C (p.Gly2186Arg) c.4163G>C (n.4163G>C) c.1840G>C (p.Gly614Arg) n.1775G>C c.1843G>C (p.Gly615Arg) c.6164G>C c.6622G>C (p.Gly2208Arg) c.705-426G>C (n.705-426G>C) c.3944G>C c.6346G>C (p.Gly2116Arg) c.6058G>C (p.Gly2020Arg) c.3586G>C (p.Gly1196Arg) | |
19 | g.35733171G= | CA2333794690 | KMT2B | n.928G= c.6556G= (p.Gly2186=) c.4163G= (n.4163G=) c.1840G= (p.Gly614=) n.1775G= c.1843G= (p.Gly615=) c.6164G= c.6622G= (p.Gly2208=) c.705-426G= (n.705-426G=) c.3944G= c.6346G= (p.Gly2116=) c.6058G= (p.Gly2020=) c.3586G= (p.Gly1196=) | |
19 | g.35733171G>T | CA405429576 | KMT2B | n.928G>T c.6556G>T (p.Gly2186Cys) c.4163G>T (n.4163G>T) c.1840G>T (p.Gly614Cys) n.1775G>T c.1843G>T (p.Gly615Cys) c.6164G>T c.6622G>T (p.Gly2208Cys) c.705-426G>T (n.705-426G>T) c.3944G>T c.6346G>T (p.Gly2116Cys) c.6058G>T (p.Gly2020Cys) c.3586G>T (p.Gly1196Cys) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35733172G>A | CA405429579 | KMT2B | n.929G>A c.6557G>A (p.Gly2186Asp) c.4164G>A (n.4164G>A) c.1841G>A (p.Gly614Asp) n.1776G>A c.1844G>A (p.Gly615Asp) c.6165G>A c.6623G>A (p.Gly2208Asp) c.705-425G>A (n.705-425G>A) c.3945G>A c.6347G>A (p.Gly2116Asp) c.6059G>A (p.Gly2020Asp) c.3587G>A (p.Gly1196Asp) | gnomAD v4 |
19 | g.35733172G>C | CA405429582 | KMT2B | n.929G>C c.6557G>C (p.Gly2186Ala) c.4164G>C (n.4164G>C) c.1841G>C (p.Gly614Ala) n.1776G>C c.1844G>C (p.Gly615Ala) c.6165G>C c.6623G>C (p.Gly2208Ala) c.705-425G>C (n.705-425G>C) c.3945G>C c.6347G>C (p.Gly2116Ala) c.6059G>C (p.Gly2020Ala) c.3587G>C (p.Gly1196Ala) | |
19 | g.35733172G>T | CA405429580 | KMT2B | n.929G>T c.6557G>T (p.Gly2186Val) c.4164G>T (n.4164G>T) c.1841G>T (p.Gly614Val) n.1776G>T c.1844G>T (p.Gly615Val) c.6165G>T c.6623G>T (p.Gly2208Val) c.705-425G>T (n.705-425G>T) c.3945G>T c.6347G>T (p.Gly2116Val) c.6059G>T (p.Gly2020Val) c.3587G>T (p.Gly1196Val) | gnomAD v4 |
19 | g.35733173T>A | CA507308780 | KMT2B | n.930T>A c.6558T>A (p.Gly2186=) c.4165T>A (n.4165T>A) c.1842T>A (p.Gly614=) n.1777T>A c.1845T>A (p.Gly615=) c.6166T>A c.6624T>A (p.Gly2208=) c.705-424T>A (n.705-424T>A) c.3946T>A c.6348T>A (p.Gly2116=) c.6060T>A (p.Gly2020=) c.3588T>A (p.Gly1196=) | |
19 | g.35733173T>C | CA507308781 | KMT2B | n.930T>C c.6558T>C (p.Gly2186=) c.4165T>C (n.4165T>C) c.1842T>C (p.Gly614=) n.1777T>C c.1845T>C (p.Gly615=) c.6166T>C c.6624T>C (p.Gly2208=) c.705-424T>C (n.705-424T>C) c.3946T>C c.6348T>C (p.Gly2116=) c.6060T>C (p.Gly2020=) c.3588T>C (p.Gly1196=) | |
19 | g.35733173T>G | CA507308783 | KMT2B | n.930T>G c.6558T>G (p.Gly2186=) c.4165T>G (n.4165T>G) c.1842T>G (p.Gly614=) n.1777T>G c.1845T>G (p.Gly615=) c.6166T>G c.6624T>G (p.Gly2208=) c.705-424T>G (n.705-424T>G) c.3946T>G c.6348T>G (p.Gly2116=) c.6060T>G (p.Gly2020=) c.3588T>G (p.Gly1196=) | |
19 | g.35733174G>A | CA405429585 | KMT2B | n.931G>A c.6559G>A (p.Glu2187Lys) c.4166G>A (n.4166G>A) c.1843G>A (p.Glu615Lys) n.1778G>A c.1846G>A (p.Glu616Lys) c.6167G>A c.6625G>A (p.Glu2209Lys) c.705-423G>A (n.705-423G>A) c.3947G>A c.6349G>A (p.Glu2117Lys) c.6061G>A (p.Glu2021Lys) c.3589G>A (p.Glu1197Lys) | |
19 | g.35733174G>C | CA405429587 | KMT2B | n.931G>C c.6559G>C (p.Glu2187Gln) c.4166G>C (n.4166G>C) c.1843G>C (p.Glu615Gln) n.1778G>C c.1846G>C (p.Glu616Gln) c.6167G>C c.6625G>C (p.Glu2209Gln) c.705-423G>C (n.705-423G>C) c.3947G>C c.6349G>C (p.Glu2117Gln) c.6061G>C (p.Glu2021Gln) c.3589G>C (p.Glu1197Gln) | |
19 | g.35733174G>T | CA405429589 | KMT2B | n.931G>T c.6559G>T (p.Glu2187Ter) c.4166G>T (n.4166G>T) c.1843G>T (p.Glu615Ter) n.1778G>T c.1846G>T (p.Glu616Ter) c.6167G>T c.6625G>T (p.Glu2209Ter) c.705-423G>T (n.705-423G>T) c.3947G>T c.6349G>T (p.Glu2117Ter) c.6061G>T (p.Glu2021Ter) c.3589G>T (p.Glu1197Ter) | gnomAD v4 |
19 | g.35733175A>C | CA405429592 | KMT2B | n.932A>C c.6560A>C (p.Glu2187Ala) c.4167A>C (n.4167A>C) c.1844A>C (p.Glu615Ala) n.1779A>C c.1847A>C (p.Glu616Ala) c.6168A>C c.6626A>C (p.Glu2209Ala) c.705-422A>C (n.705-422A>C) c.3948A>C c.6350A>C (p.Glu2117Ala) c.6062A>C (p.Glu2021Ala) c.3590A>C (p.Glu1197Ala) | |
19 | g.35733175A>G | CA405429594 | KMT2B | n.932A>G c.6560A>G (p.Glu2187Gly) c.4167A>G (n.4167A>G) c.1844A>G (p.Glu615Gly) n.1779A>G c.1847A>G (p.Glu616Gly) c.6168A>G c.6626A>G (p.Glu2209Gly) c.705-422A>G (n.705-422A>G) c.3948A>G c.6350A>G (p.Glu2117Gly) c.6062A>G (p.Glu2021Gly) c.3590A>G (p.Glu1197Gly) | gnomAD v4 |
19 | g.35733175A>T | CA405429595 | KMT2B | n.932A>T c.6560A>T (p.Glu2187Val) c.4167A>T (n.4167A>T) c.1844A>T (p.Glu615Val) n.1779A>T c.1847A>T (p.Glu616Val) c.6168A>T c.6626A>T (p.Glu2209Val) c.705-422A>T (n.705-422A>T) c.3948A>T c.6350A>T (p.Glu2117Val) c.6062A>T (p.Glu2021Val) c.3590A>T (p.Glu1197Val) | |
19 | g.35733176A= | CA2333794691 | KMT2B | n.933A= c.6561A= (p.Glu2187=) c.4168A= (n.4168A=) c.1845A= (p.Glu615=) n.1780A= c.1848A= (p.Glu616=) c.6169A= c.6627A= (p.Glu2209=) c.705-421A= (n.705-421A=) c.3949A= c.6351A= (p.Glu2117=) c.6063A= (p.Glu2021=) c.3591A= (p.Glu1197=) | |
19 | g.35733176A>C | CA405429598 | KMT2B | n.933A>C c.6561A>C (p.Glu2187Asp) c.4168A>C (n.4168A>C) c.1845A>C (p.Glu615Asp) n.1780A>C c.1848A>C (p.Glu616Asp) c.6169A>C c.6627A>C (p.Glu2209Asp) c.705-421A>C (n.705-421A>C) c.3949A>C c.6351A>C (p.Glu2117Asp) c.6063A>C (p.Glu2021Asp) c.3591A>C (p.Glu1197Asp) | dbSNP |
19 | g.35733176A>G | CA507308797 | KMT2B | n.933A>G c.6561A>G (p.Glu2187=) c.4168A>G (n.4168A>G) c.1845A>G (p.Glu615=) n.1780A>G c.1848A>G (p.Glu616=) c.6169A>G c.6627A>G (p.Glu2209=) c.705-421A>G (n.705-421A>G) c.3949A>G c.6351A>G (p.Glu2117=) c.6063A>G (p.Glu2021=) c.3591A>G (p.Glu1197=) | |
19 | g.35733176A>T | CA405429600 | KMT2B | n.933A>T c.6561A>T (p.Glu2187Asp) c.4168A>T (n.4168A>T) c.1845A>T (p.Glu615Asp) n.1780A>T c.1848A>T (p.Glu616Asp) c.6169A>T c.6627A>T (p.Glu2209Asp) c.705-421A>T (n.705-421A>T) c.3949A>T c.6351A>T (p.Glu2117Asp) c.6063A>T (p.Glu2021Asp) c.3591A>T (p.Glu1197Asp) | |
19 | g.35733177C>A | CA405429602 | KMT2B | n.934C>A c.6562C>A (p.Pro2188Thr) c.4169C>A (n.4169C>A) c.1846C>A (p.Pro616Thr) n.1781C>A c.1849C>A (p.Pro617Thr) c.6170C>A c.6628C>A (p.Pro2210Thr) c.705-420C>A (n.705-420C>A) c.3950C>A c.6352C>A (p.Pro2118Thr) c.6064C>A (p.Pro2022Thr) c.3592C>A (p.Pro1198Thr) | gnomAD v4 |
19 | g.35733177C= | CA2333794692 | KMT2B | n.934C= c.6562C= (p.Pro2188=) c.4169C= (n.4169C=) c.1846C= (p.Pro616=) n.1781C= c.1849C= (p.Pro617=) c.6170C= c.6628C= (p.Pro2210=) c.705-420C= (n.705-420C=) c.3950C= c.6352C= (p.Pro2118=) c.6064C= (p.Pro2022=) c.3592C= (p.Pro1198=) | |
19 | g.35733177C>G | CA405429604 | KMT2B | n.934C>G c.6562C>G (p.Pro2188Ala) c.4169C>G (n.4169C>G) c.1846C>G (p.Pro616Ala) n.1781C>G c.1849C>G (p.Pro617Ala) c.6170C>G c.6628C>G (p.Pro2210Ala) c.705-420C>G (n.705-420C>G) c.3950C>G c.6352C>G (p.Pro2118Ala) c.6064C>G (p.Pro2022Ala) c.3592C>G (p.Pro1198Ala) | gnomAD v4 |
19 | g.35733177C>T | CA9385730 | KMT2B | n.934C>T c.6562C>T (p.Pro2188Ser) c.4169C>T (n.4169C>T) c.1846C>T (p.Pro616Ser) n.1781C>T c.1849C>T (p.Pro617Ser) c.6170C>T c.6628C>T (p.Pro2210Ser) c.705-420C>T (n.705-420C>T) c.3950C>T c.6352C>T (p.Pro2118Ser) c.6064C>T (p.Pro2022Ser) c.3592C>T (p.Pro1198Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733178C>A | CA405429613 | KMT2B | n.935C>A c.6563C>A (p.Pro2188His) c.4170C>A (n.4170C>A) c.1847C>A (p.Pro616His) n.1782C>A c.1850C>A (p.Pro617His) c.6171C>A c.6629C>A (p.Pro2210His) c.705-419C>A (n.705-419C>A) c.3951C>A c.6353C>A (p.Pro2118His) c.6065C>A (p.Pro2022His) c.3593C>A (p.Pro1198His) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35733178C= | CA2333794693 | KMT2B | n.935C= c.6563C= (p.Pro2188=) c.4170C= (n.4170C=) c.1847C= (p.Pro616=) n.1782C= c.1850C= (p.Pro617=) c.6171C= c.6629C= (p.Pro2210=) c.705-419C= (n.705-419C=) c.3951C= c.6353C= (p.Pro2118=) c.6065C= (p.Pro2022=) c.3593C= (p.Pro1198=) | |
19 | g.35733178C>G | CA405429610 | KMT2B | n.935C>G c.6563C>G (p.Pro2188Arg) c.4170C>G (n.4170C>G) c.1847C>G (p.Pro616Arg) n.1782C>G c.1850C>G (p.Pro617Arg) c.6171C>G c.6629C>G (p.Pro2210Arg) c.705-419C>G (n.705-419C>G) c.3951C>G c.6353C>G (p.Pro2118Arg) c.6065C>G (p.Pro2022Arg) c.3593C>G (p.Pro1198Arg) | dbSNP gnomAD v4 |
19 | g.35733178C>T | CA405429608 | KMT2B | n.935C>T c.6563C>T (p.Pro2188Leu) c.4170C>T (n.4170C>T) c.1847C>T (p.Pro616Leu) n.1782C>T c.1850C>T (p.Pro617Leu) c.6171C>T c.6629C>T (p.Pro2210Leu) c.705-419C>T (n.705-419C>T) c.3951C>T c.6353C>T (p.Pro2118Leu) c.6065C>T (p.Pro2022Leu) c.3593C>T (p.Pro1198Leu) | gnomAD v4 |
19 | g.35733179T>A | CA507308809 | KMT2B | n.936T>A c.6564T>A (p.Pro2188=) c.4171T>A (n.4171T>A) c.1848T>A (p.Pro616=) n.1783T>A c.1851T>A (p.Pro617=) c.6172T>A c.6630T>A (p.Pro2210=) c.705-418T>A (n.705-418T>A) c.3952T>A c.6354T>A (p.Pro2118=) c.6066T>A (p.Pro2022=) c.3594T>A (p.Pro1198=) | gnomAD v4 |
19 | g.35733179T>C | CA9385731 | KMT2B | n.936T>C c.6564T>C (p.Pro2188=) c.4171T>C (n.4171T>C) c.1848T>C (p.Pro616=) n.1783T>C c.1851T>C (p.Pro617=) c.6172T>C c.6630T>C (p.Pro2210=) c.705-418T>C (n.705-418T>C) c.3952T>C c.6354T>C (p.Pro2118=) c.6066T>C (p.Pro2022=) c.3594T>C (p.Pro1198=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733179T>G | CA507308810 | KMT2B | n.936T>G c.6564T>G (p.Pro2188=) c.4171T>G (n.4171T>G) c.1848T>G (p.Pro616=) n.1783T>G c.1851T>G (p.Pro617=) c.6172T>G c.6630T>G (p.Pro2210=) c.705-418T>G (n.705-418T>G) c.3952T>G c.6354T>G (p.Pro2118=) c.6066T>G (p.Pro2022=) c.3594T>G (p.Pro1198=) | |
19 | g.35733179T= | CA2333794694 | KMT2B | n.936T= c.6564T= (p.Pro2188=) c.4171T= (n.4171T=) c.1848T= (p.Pro616=) n.1783T= c.1851T= (p.Pro617=) c.6172T= c.6630T= (p.Pro2210=) c.705-418T= (n.705-418T=) c.3952T= c.6354T= (p.Pro2118=) c.6066T= (p.Pro2022=) c.3594T= (p.Pro1198=) | |
19 | g.35733180G>A | CA405429616 | KMT2B | n.937G>A c.6565G>A (p.Val2189Ile) c.4172G>A (n.4172G>A) c.1849G>A (p.Val617Ile) n.1784G>A c.1852G>A (p.Val618Ile) c.6173G>A c.6631G>A (p.Val2211Ile) c.705-417G>A (n.705-417G>A) c.3953G>A c.6355G>A (p.Val2119Ile) c.6067G>A (p.Val2023Ile) c.3595G>A (p.Val1199Ile) | |
19 | g.35733180G>C | CA405429618 | KMT2B | n.937G>C c.6565G>C (p.Val2189Leu) c.4172G>C (n.4172G>C) c.1849G>C (p.Val617Leu) n.1784G>C c.1852G>C (p.Val618Leu) c.6173G>C c.6631G>C (p.Val2211Leu) c.705-417G>C (n.705-417G>C) c.3953G>C c.6355G>C (p.Val2119Leu) c.6067G>C (p.Val2023Leu) c.3595G>C (p.Val1199Leu) | dbSNP gnomAD v4 |
19 | g.35733180G= | CA2333794695 | KMT2B | n.937G= c.6565G= (p.Val2189=) c.4172G= (n.4172G=) c.1849G= (p.Val617=) n.1784G= c.1852G= (p.Val618=) c.6173G= c.6631G= (p.Val2211=) c.705-417G= (n.705-417G=) c.3953G= c.6355G= (p.Val2119=) c.6067G= (p.Val2023=) c.3595G= (p.Val1199=) | |
19 | g.35733180G>T | CA405429620 | KMT2B | n.937G>T c.6565G>T (p.Val2189Phe) c.4172G>T (n.4172G>T) c.1849G>T (p.Val617Phe) n.1784G>T c.1852G>T (p.Val618Phe) c.6173G>T c.6631G>T (p.Val2211Phe) c.705-417G>T (n.705-417G>T) c.3953G>T c.6355G>T (p.Val2119Phe) c.6067G>T (p.Val2023Phe) c.3595G>T (p.Val1199Phe) | gnomAD v4 |
19 | g.35733181T>A | CA405429622 | KMT2B | n.938T>A c.6566T>A (p.Val2189Asp) c.4173T>A (n.4173T>A) c.1850T>A (p.Val617Asp) n.1785T>A c.1853T>A (p.Val618Asp) c.6174T>A c.6632T>A (p.Val2211Asp) c.705-416T>A (n.705-416T>A) c.3954T>A c.6356T>A (p.Val2119Asp) c.6068T>A (p.Val2023Asp) c.3596T>A (p.Val1199Asp) | |
19 | g.35733181T>C | CA405429624 | KMT2B | n.938T>C c.6566T>C (p.Val2189Ala) c.4173T>C (n.4173T>C) c.1850T>C (p.Val617Ala) n.1785T>C c.1853T>C (p.Val618Ala) c.6174T>C c.6632T>C (p.Val2211Ala) c.705-416T>C (n.705-416T>C) c.3954T>C c.6356T>C (p.Val2119Ala) c.6068T>C (p.Val2023Ala) c.3596T>C (p.Val1199Ala) | gnomAD v4 |
19 | g.35733181T>G | CA405429626 | KMT2B | n.938T>G c.6566T>G (p.Val2189Gly) c.4173T>G (n.4173T>G) c.1850T>G (p.Val617Gly) n.1785T>G c.1853T>G (p.Val618Gly) c.6174T>G c.6632T>G (p.Val2211Gly) c.705-416T>G (n.705-416T>G) c.3954T>G c.6356T>G (p.Val2119Gly) c.6068T>G (p.Val2023Gly) c.3596T>G (p.Val1199Gly) | |
19 | g.35733182C>A | CA507308824 | KMT2B | n.939C>A c.6567C>A (p.Val2189=) c.4174C>A (n.4174C>A) c.1851C>A (p.Val617=) n.1786C>A c.1854C>A (p.Val618=) c.6175C>A c.6633C>A (p.Val2211=) c.705-415C>A (n.705-415C>A) c.3955C>A c.6357C>A (p.Val2119=) c.6069C>A (p.Val2023=) c.3597C>A (p.Val1199=) | gnomAD v4 |
19 | g.35733182C>G | CA507308826 | KMT2B | n.939C>G c.6567C>G (p.Val2189=) c.4174C>G (n.4174C>G) c.1851C>G (p.Val617=) n.1786C>G c.1854C>G (p.Val618=) c.6175C>G c.6633C>G (p.Val2211=) c.705-415C>G (n.705-415C>G) c.3955C>G c.6357C>G (p.Val2119=) c.6069C>G (p.Val2023=) c.3597C>G (p.Val1199=) | gnomAD v4 |
19 | g.35733182C>T | CA507308828 | KMT2B | n.939C>T c.6567C>T (p.Val2189=) c.4174C>T (n.4174C>T) c.1851C>T (p.Val617=) n.1786C>T c.1854C>T (p.Val618=) c.6175C>T c.6633C>T (p.Val2211=) c.705-415C>T (n.705-415C>T) c.3955C>T c.6357C>T (p.Val2119=) c.6069C>T (p.Val2023=) c.3597C>T (p.Val1199=) | COSMIC |
19 | g.35733184del | CA2584575169 | KMT2B | n.941del c.6569del (p.Pro2190HisfsTer4) c.4176del (n.4176del) c.1853del (p.Pro618HisfsTer4) n.1788del c.1856del (p.Pro619HisfsTer4) c.6177del c.6635del (p.Pro2212HisfsTer4) c.705-413del (n.705-413del) c.3957del c.6359del (p.Pro2120HisfsTer4) c.6071del (p.Pro2024HisfsTer4) c.3599del (p.Pro1200HisfsTer4) | gnomAD v4 |
19 | g.35733183C>A | CA405429627 | KMT2B | n.940C>A c.6568C>A (p.Pro2190Thr) c.4175C>A (n.4175C>A) c.1852C>A (p.Pro618Thr) n.1787C>A c.1855C>A (p.Pro619Thr) c.6176C>A c.6634C>A (p.Pro2212Thr) c.705-414C>A (n.705-414C>A) c.3956C>A c.6358C>A (p.Pro2120Thr) c.6070C>A (p.Pro2024Thr) c.3598C>A (p.Pro1200Thr) | gnomAD v4 |
19 | g.35733183C>G | CA405429629 | KMT2B | n.940C>G c.6568C>G (p.Pro2190Ala) c.4175C>G (n.4175C>G) c.1852C>G (p.Pro618Ala) n.1787C>G c.1855C>G (p.Pro619Ala) c.6176C>G c.6634C>G (p.Pro2212Ala) c.705-414C>G (n.705-414C>G) c.3956C>G c.6358C>G (p.Pro2120Ala) c.6070C>G (p.Pro2024Ala) c.3598C>G (p.Pro1200Ala) | |
19 | g.35733183C>T | CA405429632 | KMT2B | n.940C>T c.6568C>T (p.Pro2190Ser) c.4175C>T (n.4175C>T) c.1852C>T (p.Pro618Ser) n.1787C>T c.1855C>T (p.Pro619Ser) c.6176C>T c.6634C>T (p.Pro2212Ser) c.705-414C>T (n.705-414C>T) c.3956C>T c.6358C>T (p.Pro2120Ser) c.6070C>T (p.Pro2024Ser) c.3598C>T (p.Pro1200Ser) | gnomAD v4 |
19 | g.35733184C>A | CA405429635 | KMT2B | n.941C>A c.6569C>A (p.Pro2190Gln) c.4176C>A (n.4176C>A) c.1853C>A (p.Pro618Gln) n.1788C>A c.1856C>A (p.Pro619Gln) c.6177C>A c.6635C>A (p.Pro2212Gln) c.705-413C>A (n.705-413C>A) c.3957C>A c.6359C>A (p.Pro2120Gln) c.6071C>A (p.Pro2024Gln) c.3599C>A (p.Pro1200Gln) | gnomAD v4 |
19 | g.35733184C>G | CA405429637 | KMT2B | n.941C>G c.6569C>G (p.Pro2190Arg) c.4176C>G (n.4176C>G) c.1853C>G (p.Pro618Arg) n.1788C>G c.1856C>G (p.Pro619Arg) c.6177C>G c.6635C>G (p.Pro2212Arg) c.705-413C>G (n.705-413C>G) c.3957C>G c.6359C>G (p.Pro2120Arg) c.6071C>G (p.Pro2024Arg) c.3599C>G (p.Pro1200Arg) | |
19 | g.35733184C>T | CA405429639 | KMT2B | n.941C>T c.6569C>T (p.Pro2190Leu) c.4176C>T (n.4176C>T) c.1853C>T (p.Pro618Leu) n.1788C>T c.1856C>T (p.Pro619Leu) c.6177C>T c.6635C>T (p.Pro2212Leu) c.705-413C>T (n.705-413C>T) c.3957C>T c.6359C>T (p.Pro2120Leu) c.6071C>T (p.Pro2024Leu) c.3599C>T (p.Pro1200Leu) | |
19 | g.35733185A= | CA2333794696 | KMT2B | n.942A= c.6570A= (p.Pro2190=) c.4177A= (n.4177A=) c.1854A= (p.Pro618=) n.1789A= c.1857A= (p.Pro619=) c.6178A= c.6636A= (p.Pro2212=) c.705-412A= (n.705-412A=) c.3958A= c.6360A= (p.Pro2120=) c.6072A= (p.Pro2024=) c.3600A= (p.Pro1200=) | |
19 | g.35733185A>C | CA507308841 | KMT2B | n.942A>C c.6570A>C (p.Pro2190=) c.4177A>C (n.4177A>C) c.1854A>C (p.Pro618=) n.1789A>C c.1857A>C (p.Pro619=) c.6178A>C c.6636A>C (p.Pro2212=) c.705-412A>C (n.705-412A>C) c.3958A>C c.6360A>C (p.Pro2120=) c.6072A>C (p.Pro2024=) c.3600A>C (p.Pro1200=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35733185A>G | CA507308842 | KMT2B | n.942A>G c.6570A>G (p.Pro2190=) c.4177A>G (n.4177A>G) c.1854A>G (p.Pro618=) n.1789A>G c.1857A>G (p.Pro619=) c.6178A>G c.6636A>G (p.Pro2212=) c.705-412A>G (n.705-412A>G) c.3958A>G c.6360A>G (p.Pro2120=) c.6072A>G (p.Pro2024=) c.3600A>G (p.Pro1200=) | gnomAD v4 |
19 | g.35733185A>T | CA507308843 | KMT2B | n.942A>T c.6570A>T (p.Pro2190=) c.4177A>T (n.4177A>T) c.1854A>T (p.Pro618=) n.1789A>T c.1857A>T (p.Pro619=) c.6178A>T c.6636A>T (p.Pro2212=) c.705-412A>T (n.705-412A>T) c.3958A>T c.6360A>T (p.Pro2120=) c.6072A>T (p.Pro2024=) c.3600A>T (p.Pro1200=) | |
19 | g.35733186C>A | CA405429642 | KMT2B | n.943C>A c.6571C>A (p.Pro2191Thr) c.4178C>A (n.4178C>A) c.1855C>A (p.Pro619Thr) n.1790C>A c.1858C>A (p.Pro620Thr) c.6179C>A c.6637C>A (p.Pro2213Thr) c.705-411C>A (n.705-411C>A) c.3959C>A c.6361C>A (p.Pro2121Thr) c.6073C>A (p.Pro2025Thr) c.3601C>A (p.Pro1201Thr) | gnomAD v4 |
19 | g.35733186C= | CA2333794697 | KMT2B | n.943C= c.6571C= (p.Pro2191=) c.4178C= (n.4178C=) c.1855C= (p.Pro619=) n.1790C= c.1858C= (p.Pro620=) c.6179C= c.6637C= (p.Pro2213=) c.705-411C= (n.705-411C=) c.3959C= c.6361C= (p.Pro2121=) c.6073C= (p.Pro2025=) c.3601C= (p.Pro1201=) | |
19 | g.35733186C>G | CA405429644 | KMT2B | n.943C>G c.6571C>G (p.Pro2191Ala) c.4178C>G (n.4178C>G) c.1855C>G (p.Pro619Ala) n.1790C>G c.1858C>G (p.Pro620Ala) c.6179C>G c.6637C>G (p.Pro2213Ala) c.705-411C>G (n.705-411C>G) c.3959C>G c.6361C>G (p.Pro2121Ala) c.6073C>G (p.Pro2025Ala) c.3601C>G (p.Pro1201Ala) | dbSNP |
19 | g.35733186C>T | CA405429640 | KMT2B | n.943C>T c.6571C>T (p.Pro2191Ser) c.4178C>T (n.4178C>T) c.1855C>T (p.Pro619Ser) n.1790C>T c.1858C>T (p.Pro620Ser) c.6179C>T c.6637C>T (p.Pro2213Ser) c.705-411C>T (n.705-411C>T) c.3959C>T c.6361C>T (p.Pro2121Ser) c.6073C>T (p.Pro2025Ser) c.3601C>T (p.Pro1201Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35733188_35733190dup | CA2584575170 | KMT2B | n.945_947dup c.6573_6575dup (p.Pro2192_Val2193insPro) c.4180_4182dup (n.4180_4182dup) c.1857_1859dup (p.Pro620_Val621insPro) n.1792_1794dup c.1860_1862dup (p.Pro621_Val622insPro) c.6181_6183dup c.6639_6641dup (p.Pro2214_Val2215insPro) c.705-409_705-407dup (n.705-409_705-407dup) c.3961_3963dup c.6363_6365dup (p.Pro2122_Val2123insPro) c.6075_6077dup (p.Pro2026_Val2027insPro) c.3603_3605dup (p.Pro1202_Val1203insPro) | gnomAD v4 |
19 | g.35733190del | CA2576757230 | KMT2B | n.947del c.6575del (p.Pro2192GlnfsTer2) c.4182del (n.4182del) c.1859del (p.Pro620GlnfsTer2) n.1794del c.1862del (p.Pro621GlnfsTer2) c.6183del c.6641del (p.Pro2214GlnfsTer2) c.705-407del (n.705-407del) c.3963del c.6365del (p.Pro2122GlnfsTer2) c.6077del (p.Pro2026GlnfsTer2) c.3605del (p.Pro1202GlnfsTer2) | gnomAD v4 |
19 | g.35733187C>A | CA307797117 | KMT2B | n.944C>A c.6572C>A (p.Pro2191His) c.4179C>A (n.4179C>A) c.1856C>A (p.Pro619His) n.1791C>A c.1859C>A (p.Pro620His) c.6180C>A c.6638C>A (p.Pro2213His) c.705-410C>A (n.705-410C>A) c.3960C>A c.6362C>A (p.Pro2121His) c.6074C>A (p.Pro2025His) c.3602C>A (p.Pro1201His) | dbSNP gnomAD v4 |
19 | g.35733187C= | CA2333794698 | KMT2B | n.944C= c.6572C= (p.Pro2191=) c.4179C= (n.4179C=) c.1856C= (p.Pro619=) n.1791C= c.1859C= (p.Pro620=) c.6180C= c.6638C= (p.Pro2213=) c.705-410C= (n.705-410C=) c.3960C= c.6362C= (p.Pro2121=) c.6074C= (p.Pro2025=) c.3602C= (p.Pro1201=) | |
19 | g.35733187C>G | CA405429648 | KMT2B | n.944C>G c.6572C>G (p.Pro2191Arg) c.4179C>G (n.4179C>G) c.1856C>G (p.Pro619Arg) n.1791C>G c.1859C>G (p.Pro620Arg) c.6180C>G c.6638C>G (p.Pro2213Arg) c.705-410C>G (n.705-410C>G) c.3960C>G c.6362C>G (p.Pro2121Arg) c.6074C>G (p.Pro2025Arg) c.3602C>G (p.Pro1201Arg) | |
19 | g.35733187C>T | CA9385732 | KMT2B | n.944C>T c.6572C>T (p.Pro2191Leu) c.4179C>T (n.4179C>T) c.1856C>T (p.Pro619Leu) n.1791C>T c.1859C>T (p.Pro620Leu) c.6180C>T c.6638C>T (p.Pro2213Leu) c.705-410C>T (n.705-410C>T) c.3960C>T c.6362C>T (p.Pro2121Leu) c.6074C>T (p.Pro2025Leu) c.3602C>T (p.Pro1201Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35733188C>A | CA507308877 | KMT2B | n.945C>A c.6573C>A (p.Pro2191=) c.4180C>A (n.4180C>A) c.1857C>A (p.Pro619=) n.1792C>A c.1860C>A (p.Pro620=) c.6181C>A c.6639C>A (p.Pro2213=) c.705-409C>A (n.705-409C>A) c.3961C>A c.6363C>A (p.Pro2121=) c.6075C>A (p.Pro2025=) c.3603C>A (p.Pro1201=) | ClinVar gnomAD v4 |
19 | g.35733188C>G | CA507308874 | KMT2B | n.945C>G c.6573C>G (p.Pro2191=) c.4180C>G (n.4180C>G) c.1857C>G (p.Pro619=) n.1792C>G c.1860C>G (p.Pro620=) c.6181C>G c.6639C>G (p.Pro2213=) c.705-409C>G (n.705-409C>G) c.3961C>G c.6363C>G (p.Pro2121=) c.6075C>G (p.Pro2025=) c.3603C>G (p.Pro1201=) | |
19 | g.35733188C>T | CA507308872 | KMT2B | n.945C>T c.6573C>T (p.Pro2191=) c.4180C>T (n.4180C>T) c.1857C>T (p.Pro619=) n.1792C>T c.1860C>T (p.Pro620=) c.6181C>T c.6639C>T (p.Pro2213=) c.705-409C>T (n.705-409C>T) c.3961C>T c.6363C>T (p.Pro2121=) c.6075C>T (p.Pro2025=) c.3603C>T (p.Pro1201=) | gnomAD v4 |
19 | g.35733189C>A | CA405429653 | KMT2B | n.946C>A c.6574C>A (p.Pro2192Thr) c.4181C>A (n.4181C>A) c.1858C>A (p.Pro620Thr) n.1793C>A c.1861C>A (p.Pro621Thr) c.6182C>A c.6640C>A (p.Pro2214Thr) c.705-408C>A (n.705-408C>A) c.3962C>A c.6364C>A (p.Pro2122Thr) c.6076C>A (p.Pro2026Thr) c.3604C>A (p.Pro1202Thr) | ClinVar gnomAD v4 |
19 | g.35733189C= | CA2333794699 | KMT2B | n.946C= c.6574C= (p.Pro2192=) c.4181C= (n.4181C=) c.1858C= (p.Pro620=) n.1793C= c.1861C= (p.Pro621=) c.6182C= c.6640C= (p.Pro2214=) c.705-408C= (n.705-408C=) c.3962C= c.6364C= (p.Pro2122=) c.6076C= (p.Pro2026=) c.3604C= (p.Pro1202=) | |
19 | g.35733189C>G | CA9385733 | KMT2B | n.946C>G c.6574C>G (p.Pro2192Ala) c.4181C>G (n.4181C>G) c.1858C>G (p.Pro620Ala) n.1793C>G c.1861C>G (p.Pro621Ala) c.6182C>G c.6640C>G (p.Pro2214Ala) c.705-408C>G (n.705-408C>G) c.3962C>G c.6364C>G (p.Pro2122Ala) c.6076C>G (p.Pro2026Ala) c.3604C>G (p.Pro1202Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35733189C>T | CA405429654 | KMT2B | n.946C>T c.6574C>T (p.Pro2192Ser) c.4181C>T (n.4181C>T) c.1858C>T (p.Pro620Ser) n.1793C>T c.1861C>T (p.Pro621Ser) c.6182C>T c.6640C>T (p.Pro2214Ser) c.705-408C>T (n.705-408C>T) c.3962C>T c.6364C>T (p.Pro2122Ser) c.6076C>T (p.Pro2026Ser) c.3604C>T (p.Pro1202Ser) | gnomAD v4 |
19 | g.35733190C>A | CA405429659 | KMT2B | n.947C>A c.6575C>A (p.Pro2192Gln) c.4182C>A (n.4182C>A) c.1859C>A (p.Pro620Gln) n.1794C>A c.1862C>A (p.Pro621Gln) c.6183C>A c.6641C>A (p.Pro2214Gln) c.705-407C>A (n.705-407C>A) c.3963C>A c.6365C>A (p.Pro2122Gln) c.6077C>A (p.Pro2026Gln) c.3605C>A (p.Pro1202Gln) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35733190C= | CA2333794700 | KMT2B | n.947C= c.6575C= (p.Pro2192=) c.4182C= (n.4182C=) c.1859C= (p.Pro620=) n.1794C= c.1862C= (p.Pro621=) c.6183C= c.6641C= (p.Pro2214=) c.705-407C= (n.705-407C=) c.3963C= c.6365C= (p.Pro2122=) c.6077C= (p.Pro2026=) c.3605C= (p.Pro1202=) | |
19 | g.35733190C>G | CA405429663 | KMT2B | n.947C>G c.6575C>G (p.Pro2192Arg) c.4182C>G (n.4182C>G) c.1859C>G (p.Pro620Arg) n.1794C>G c.1862C>G (p.Pro621Arg) c.6183C>G c.6641C>G (p.Pro2214Arg) c.705-407C>G (n.705-407C>G) c.3963C>G c.6365C>G (p.Pro2122Arg) c.6077C>G (p.Pro2026Arg) c.3605C>G (p.Pro1202Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35733190C>T | CA405429661 | KMT2B | n.947C>T c.6575C>T (p.Pro2192Leu) c.4182C>T (n.4182C>T) c.1859C>T (p.Pro620Leu) n.1794C>T c.1862C>T (p.Pro621Leu) c.6183C>T c.6641C>T (p.Pro2214Leu) c.705-407C>T (n.705-407C>T) c.3963C>T c.6365C>T (p.Pro2122Leu) c.6077C>T (p.Pro2026Leu) c.3605C>T (p.Pro1202Leu) | gnomAD v4 |
19 | g.35733191A= | CA2333794701 | KMT2B | n.948A= c.6576A= (p.Pro2192=) c.4183A= (n.4183A=) c.1860A= (p.Pro620=) n.1795A= c.1863A= (p.Pro621=) c.6184A= c.6642A= (p.Pro2214=) c.705-406A= (n.705-406A=) c.3964A= c.6366A= (p.Pro2122=) c.6078A= (p.Pro2026=) c.3606A= (p.Pro1202=) | |
19 | g.35733191A>C | CA507308886 | KMT2B | n.948A>C c.6576A>C (p.Pro2192=) c.4183A>C (n.4183A>C) c.1860A>C (p.Pro620=) n.1795A>C c.1863A>C (p.Pro621=) c.6184A>C c.6642A>C (p.Pro2214=) c.705-406A>C (n.705-406A>C) c.3964A>C c.6366A>C (p.Pro2122=) c.6078A>C (p.Pro2026=) c.3606A>C (p.Pro1202=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.35733191A>G | CA507308889 | KMT2B | n.948A>G c.6576A>G (p.Pro2192=) c.4183A>G (n.4183A>G) c.1860A>G (p.Pro620=) n.1795A>G c.1863A>G (p.Pro621=) c.6184A>G c.6642A>G (p.Pro2214=) c.705-406A>G (n.705-406A>G) c.3964A>G c.6366A>G (p.Pro2122=) c.6078A>G (p.Pro2026=) c.3606A>G (p.Pro1202=) | gnomAD v4 |
19 | g.35733191A>T | CA507308890 | KMT2B | n.948A>T c.6576A>T (p.Pro2192=) c.4183A>T (n.4183A>T) c.1860A>T (p.Pro620=) n.1795A>T c.1863A>T (p.Pro621=) c.6184A>T c.6642A>T (p.Pro2214=) c.705-406A>T (n.705-406A>T) c.3964A>T c.6366A>T (p.Pro2122=) c.6078A>T (p.Pro2026=) c.3606A>T (p.Pro1202=) | |
19 | g.35733192G>A | CA405429665 | KMT2B | n.949G>A c.6577G>A (p.Val2193Met) c.4184G>A (n.4184G>A) c.1861G>A (p.Val621Met) n.1796G>A c.1864G>A (p.Val622Met) c.6185G>A c.6643G>A (p.Val2215Met) c.705-405G>A (n.705-405G>A) c.3965G>A c.6367G>A (p.Val2123Met) c.6079G>A (p.Val2027Met) c.3607G>A (p.Val1203Met) | gnomAD v4 COSMIC |
19 | g.35733192G>C | CA405429669 | KMT2B | n.949G>C c.6577G>C (p.Val2193Leu) c.4184G>C (n.4184G>C) c.1861G>C (p.Val621Leu) n.1796G>C c.1864G>C (p.Val622Leu) c.6185G>C c.6643G>C (p.Val2215Leu) c.705-405G>C (n.705-405G>C) c.3965G>C c.6367G>C (p.Val2123Leu) c.6079G>C (p.Val2027Leu) c.3607G>C (p.Val1203Leu) | |
19 | g.35733192G>T | CA405429667 | KMT2B | n.949G>T c.6577G>T (p.Val2193Leu) c.4184G>T (n.4184G>T) c.1861G>T (p.Val621Leu) n.1796G>T c.1864G>T (p.Val622Leu) c.6185G>T c.6643G>T (p.Val2215Leu) c.705-405G>T (n.705-405G>T) c.3965G>T c.6367G>T (p.Val2123Leu) c.6079G>T (p.Val2027Leu) c.3607G>T (p.Val1203Leu) | gnomAD v4 |
19 | g.35733193T>A | CA405429672 | KMT2B | n.950T>A c.6578T>A (p.Val2193Glu) c.4185T>A (n.4185T>A) c.1862T>A (p.Val621Glu) n.1797T>A c.1865T>A (p.Val622Glu) c.6186T>A c.6644T>A (p.Val2215Glu) c.705-404T>A (n.705-404T>A) c.3966T>A c.6368T>A (p.Val2123Glu) c.6080T>A (p.Val2027Glu) c.3608T>A (p.Val1203Glu) | |
19 | g.35733193T>C | CA405429675 | KMT2B | n.950T>C c.6578T>C (p.Val2193Ala) c.4185T>C (n.4185T>C) c.1862T>C (p.Val621Ala) n.1797T>C c.1865T>C (p.Val622Ala) c.6186T>C c.6644T>C (p.Val2215Ala) c.705-404T>C (n.705-404T>C) c.3966T>C c.6368T>C (p.Val2123Ala) c.6080T>C (p.Val2027Ala) c.3608T>C (p.Val1203Ala) | |
19 | g.35733193T>G | CA405429673 | KMT2B | n.950T>G c.6578T>G (p.Val2193Gly) c.4185T>G (n.4185T>G) c.1862T>G (p.Val621Gly) n.1797T>G c.1865T>G (p.Val622Gly) c.6186T>G c.6644T>G (p.Val2215Gly) c.705-404T>G (n.705-404T>G) c.3966T>G c.6368T>G (p.Val2123Gly) c.6080T>G (p.Val2027Gly) c.3608T>G (p.Val1203Gly) | |
19 | g.35733194del | CA2576757231 | KMT2B | n.951del c.6579del (p.Lys2194SerfsTer?) c.4186del (n.4186del) c.1863del (p.Lys622SerfsTer?) n.1798del c.1866del (p.Lys623SerfsTer?) c.6187del c.6645del (p.Lys2216SerfsTer?) c.705-403del (n.705-403del) c.3967del c.6369del (p.Lys2124SerfsTer?) c.6081del (p.Lys2028SerfsTer?) c.3609del (p.Lys1204SerfsTer?) | |
19 | g.35733194G>A | CA507308899 | KMT2B | n.951G>A c.6579G>A (p.Val2193=) c.4186G>A (n.4186G>A) c.1863G>A (p.Val621=) n.1798G>A c.1866G>A (p.Val622=) c.6187G>A c.6645G>A (p.Val2215=) c.705-403G>A (n.705-403G>A) c.3967G>A c.6369G>A (p.Val2123=) c.6081G>A (p.Val2027=) c.3609G>A (p.Val1203=) | gnomAD v4 |
19 | g.35733194G>C | CA507308900 | KMT2B | n.951G>C c.6579G>C (p.Val2193=) c.4186G>C (n.4186G>C) c.1863G>C (p.Val621=) n.1798G>C c.1866G>C (p.Val622=) c.6187G>C c.6645G>C (p.Val2215=) c.705-403G>C (n.705-403G>C) c.3967G>C c.6369G>C (p.Val2123=) c.6081G>C (p.Val2027=) c.3609G>C (p.Val1203=) | |
19 | g.35733194G>T | CA507308901 | KMT2B | n.951G>T c.6579G>T (p.Val2193=) c.4186G>T (n.4186G>T) c.1863G>T (p.Val621=) n.1798G>T c.1866G>T (p.Val622=) c.6187G>T c.6645G>T (p.Val2215=) c.705-403G>T (n.705-403G>T) c.3967G>T c.6369G>T (p.Val2123=) c.6081G>T (p.Val2027=) c.3609G>T (p.Val1203=) | |
19 | g.35733195A>C | CA405429677 | KMT2B | n.952A>C c.6580A>C (p.Lys2194Gln) c.4187A>C (n.4187A>C) c.1864A>C (p.Lys622Gln) n.1799A>C c.1867A>C (p.Lys623Gln) c.6188A>C c.6646A>C (p.Lys2216Gln) c.705-402A>C (n.705-402A>C) c.3968A>C c.6370A>C (p.Lys2124Gln) c.6082A>C (p.Lys2028Gln) c.3610A>C (p.Lys1204Gln) | gnomAD v3 gnomAD v4 |
19 | g.35733195A>G | CA405429680 | KMT2B | n.952A>G c.6580A>G (p.Lys2194Glu) c.4187A>G (n.4187A>G) c.1864A>G (p.Lys622Glu) n.1799A>G c.1867A>G (p.Lys623Glu) c.6188A>G c.6646A>G (p.Lys2216Glu) c.705-402A>G (n.705-402A>G) c.3968A>G c.6370A>G (p.Lys2124Glu) c.6082A>G (p.Lys2028Glu) c.3610A>G (p.Lys1204Glu) | gnomAD v4 |
19 | g.35733195A>T | CA405429678 | KMT2B | n.952A>T c.6580A>T (p.Lys2194Ter) c.4187A>T (n.4187A>T) c.1864A>T (p.Lys622Ter) n.1799A>T c.1867A>T (p.Lys623Ter) c.6188A>T c.6646A>T (p.Lys2216Ter) c.705-402A>T (n.705-402A>T) c.3968A>T c.6370A>T (p.Lys2124Ter) c.6082A>T (p.Lys2028Ter) c.3610A>T (p.Lys1204Ter) | |
19 | g.35733196A= | CA2333794702 | KMT2B | n.953A= c.6581A= (p.Lys2194=) c.4188A= (n.4188A=) c.1865A= (p.Lys622=) n.1800A= c.1868A= (p.Lys623=) c.6189A= c.6647A= (p.Lys2216=) c.705-401A= (n.705-401A=) c.3969A= c.6371A= (p.Lys2124=) c.6083A= (p.Lys2028=) c.3611A= (p.Lys1204=) | |
19 | g.35733196A>C | CA405429682 | KMT2B | n.953A>C c.6581A>C (p.Lys2194Thr) c.4188A>C (n.4188A>C) c.1865A>C (p.Lys622Thr) n.1800A>C c.1868A>C (p.Lys623Thr) c.6189A>C c.6647A>C (p.Lys2216Thr) c.705-401A>C (n.705-401A>C) c.3969A>C c.6371A>C (p.Lys2124Thr) c.6083A>C (p.Lys2028Thr) c.3611A>C (p.Lys1204Thr) | |
19 | g.35733196A>G | CA405429684 | KMT2B | n.953A>G c.6581A>G (p.Lys2194Arg) c.4188A>G (n.4188A>G) c.1865A>G (p.Lys622Arg) n.1800A>G c.1868A>G (p.Lys623Arg) c.6189A>G c.6647A>G (p.Lys2216Arg) c.705-401A>G (n.705-401A>G) c.3969A>G c.6371A>G (p.Lys2124Arg) c.6083A>G (p.Lys2028Arg) c.3611A>G (p.Lys1204Arg) | dbSNP gnomAD v4 |
19 | g.35733196A>T | CA405429686 | KMT2B | n.953A>T c.6581A>T (p.Lys2194Met) c.4188A>T (n.4188A>T) c.1865A>T (p.Lys622Met) n.1800A>T c.1868A>T (p.Lys623Met) c.6189A>T c.6647A>T (p.Lys2216Met) c.705-401A>T (n.705-401A>T) c.3969A>T c.6371A>T (p.Lys2124Met) c.6083A>T (p.Lys2028Met) c.3611A>T (p.Lys1204Met) | |
19 | g.35733197G>A | CA507308910 | KMT2B | n.954G>A c.6582G>A (p.Lys2194=) c.4189G>A (n.4189G>A) c.1866G>A (p.Lys622=) n.1801G>A c.1869G>A (p.Lys623=) c.6190G>A c.6648G>A (p.Lys2216=) c.705-400G>A (n.705-400G>A) c.3970G>A c.6372G>A (p.Lys2124=) c.6084G>A (p.Lys2028=) c.3612G>A (p.Lys1204=) | |
19 | g.35733197G>C | CA405429689 | KMT2B | n.954G>C c.6582G>C (p.Lys2194Asn) c.4189G>C (n.4189G>C) c.1866G>C (p.Lys622Asn) n.1801G>C c.1869G>C (p.Lys623Asn) c.6190G>C c.6648G>C (p.Lys2216Asn) c.705-400G>C (n.705-400G>C) c.3970G>C c.6372G>C (p.Lys2124Asn) c.6084G>C (p.Lys2028Asn) c.3612G>C (p.Lys1204Asn) | |
19 | g.35733197G>T | CA405429690 | KMT2B | n.954G>T c.6582G>T (p.Lys2194Asn) c.4189G>T (n.4189G>T) c.1866G>T (p.Lys622Asn) n.1801G>T c.1869G>T (p.Lys623Asn) c.6190G>T c.6648G>T (p.Lys2216Asn) c.705-400G>T (n.705-400G>T) c.3970G>T c.6372G>T (p.Lys2124Asn) c.6084G>T (p.Lys2028Asn) c.3612G>T (p.Lys1204Asn) | gnomAD v4 |
19 | g.35733198C>A | CA405429692 | KMT2B | n.955C>A c.6583C>A (p.Gln2195Lys) c.4190C>A (n.4190C>A) c.1867C>A (p.Gln623Lys) n.1802C>A c.1870C>A (p.Gln624Lys) c.6191C>A c.6649C>A (p.Gln2217Lys) c.705-399C>A (n.705-399C>A) c.3971C>A c.6373C>A (p.Gln2125Lys) c.6085C>A (p.Gln2029Lys) c.3613C>A (p.Gln1205Lys) | gnomAD v4 |
19 | g.35733198C= | CA2333794703 | KMT2B | n.955C= c.6583C= (p.Gln2195=) c.4190C= (n.4190C=) c.1867C= (p.Gln623=) n.1802C= c.1870C= (p.Gln624=) c.6191C= c.6649C= (p.Gln2217=) c.705-399C= (n.705-399C=) c.3971C= c.6373C= (p.Gln2125=) c.6085C= (p.Gln2029=) c.3613C= (p.Gln1205=) | |
19 | g.35733198C>G | CA405429694 | KMT2B | n.955C>G c.6583C>G (p.Gln2195Glu) c.4190C>G (n.4190C>G) c.1867C>G (p.Gln623Glu) n.1802C>G c.1870C>G (p.Gln624Glu) c.6191C>G c.6649C>G (p.Gln2217Glu) c.705-399C>G (n.705-399C>G) c.3971C>G c.6373C>G (p.Gln2125Glu) c.6085C>G (p.Gln2029Glu) c.3613C>G (p.Gln1205Glu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35733198C>T | CA405429697 | KMT2B | n.955C>T c.6583C>T (p.Gln2195Ter) c.4190C>T (n.4190C>T) c.1867C>T (p.Gln623Ter) n.1802C>T c.1870C>T (p.Gln624Ter) c.6191C>T c.6649C>T (p.Gln2217Ter) c.705-399C>T (n.705-399C>T) c.3971C>T c.6373C>T (p.Gln2125Ter) c.6085C>T (p.Gln2029Ter) c.3613C>T (p.Gln1205Ter) | gnomAD v4 |
19 | g.35733199A>C | CA405429699 | KMT2B | n.956A>C c.6584A>C (p.Gln2195Pro) c.4191A>C (n.4191A>C) c.1868A>C (p.Gln623Pro) n.1803A>C c.1871A>C (p.Gln624Pro) c.6192A>C c.6650A>C (p.Gln2217Pro) c.705-398A>C (n.705-398A>C) c.3972A>C c.6374A>C (p.Gln2125Pro) c.6086A>C (p.Gln2029Pro) c.3614A>C (p.Gln1205Pro) | |
19 | g.35733199A>G | CA405429701 | KMT2B | n.956A>G c.6584A>G (p.Gln2195Arg) c.4191A>G (n.4191A>G) c.1868A>G (p.Gln623Arg) n.1803A>G c.1871A>G (p.Gln624Arg) c.6192A>G c.6650A>G (p.Gln2217Arg) c.705-398A>G (n.705-398A>G) c.3972A>G c.6374A>G (p.Gln2125Arg) c.6086A>G (p.Gln2029Arg) c.3614A>G (p.Gln1205Arg) | gnomAD v4 |
19 | g.35733199A>T | CA405429703 | KMT2B | n.956A>T c.6584A>T (p.Gln2195Leu) c.4191A>T (n.4191A>T) c.1868A>T (p.Gln623Leu) n.1803A>T c.1871A>T (p.Gln624Leu) c.6192A>T c.6650A>T (p.Gln2217Leu) c.705-398A>T (n.705-398A>T) c.3972A>T c.6374A>T (p.Gln2125Leu) c.6086A>T (p.Gln2029Leu) c.3614A>T (p.Gln1205Leu) | |
19 | g.35733200G>A | CA507308916 | KMT2B | n.957G>A c.6585G>A (p.Gln2195=) c.4192G>A (n.4192G>A) c.1869G>A (p.Gln623=) n.1804G>A c.1872G>A (p.Gln624=) c.6193G>A c.6651G>A (p.Gln2217=) c.705-397G>A (n.705-397G>A) c.3973G>A c.6375G>A (p.Gln2125=) c.6087G>A (p.Gln2029=) c.3615G>A (p.Gln1205=) | gnomAD v4 |
19 | g.35733200G>C | CA405429708 | KMT2B | n.957G>C c.6585G>C (p.Gln2195His) c.4192G>C (n.4192G>C) c.1869G>C (p.Gln623His) n.1804G>C c.1872G>C (p.Gln624His) c.6193G>C c.6651G>C (p.Gln2217His) c.705-397G>C (n.705-397G>C) c.3973G>C c.6375G>C (p.Gln2125His) c.6087G>C (p.Gln2029His) c.3615G>C (p.Gln1205His) | |
19 | g.35733200G>T | CA405429705 | KMT2B | n.957G>T c.6585G>T (p.Gln2195His) c.4192G>T (n.4192G>T) c.1869G>T (p.Gln623His) n.1804G>T c.1872G>T (p.Gln624His) c.6193G>T c.6651G>T (p.Gln2217His) c.705-397G>T (n.705-397G>T) c.3973G>T c.6375G>T (p.Gln2125His) c.6087G>T (p.Gln2029His) c.3615G>T (p.Gln1205His) | gnomAD v4 |
19 | g.35733201C>A | CA405429710 | KMT2B | n.958C>A c.6586C>A (p.Pro2196Thr) c.4193C>A (n.4193C>A) c.1870C>A (p.Pro624Thr) n.1805C>A c.1873C>A (p.Pro625Thr) c.6194C>A c.6652C>A (p.Pro2218Thr) c.705-396C>A (n.705-396C>A) c.3974C>A c.6376C>A (p.Pro2126Thr) c.6088C>A (p.Pro2030Thr) c.3616C>A (p.Pro1206Thr) | gnomAD v4 |
19 | g.35733201C>G | CA405429712 | KMT2B | n.958C>G c.6586C>G (p.Pro2196Ala) c.4193C>G (n.4193C>G) c.1870C>G (p.Pro624Ala) n.1805C>G c.1873C>G (p.Pro625Ala) c.6194C>G c.6652C>G (p.Pro2218Ala) c.705-396C>G (n.705-396C>G) c.3974C>G c.6376C>G (p.Pro2126Ala) c.6088C>G (p.Pro2030Ala) c.3616C>G (p.Pro1206Ala) | |
19 | g.35733201C>T | CA405429714 | KMT2B | n.958C>T c.6586C>T (p.Pro2196Ser) c.4193C>T (n.4193C>T) c.1870C>T (p.Pro624Ser) n.1805C>T c.1873C>T (p.Pro625Ser) c.6194C>T c.6652C>T (p.Pro2218Ser) c.705-396C>T (n.705-396C>T) c.3974C>T c.6376C>T (p.Pro2126Ser) c.6088C>T (p.Pro2030Ser) c.3616C>T (p.Pro1206Ser) | gnomAD v4 |
19 | g.35733202del | CA2576757232 | KMT2B | n.959del c.6587del (p.Pro2196HisfsTer?) c.4194del (n.4194del) c.1871del (p.Pro624HisfsTer?) n.1806del c.1874del (p.Pro625HisfsTer?) c.6195del c.6653del (p.Pro2218HisfsTer?) c.705-395del (n.705-395del) c.3975del c.6377del (p.Pro2126HisfsTer?) c.6089del (p.Pro2030HisfsTer?) c.3617del (p.Pro1206HisfsTer?) | |
19 | g.35733206_35733218del | CA2584575171 | KMT2B | n.963_975del c.6591_6603del (p.Leu2198PhefsTer?) c.4198_4210del (n.4198_4210del) c.1875_1887del (p.Leu626PhefsTer?) n.1810_1822del c.1878_1890del (p.Leu627PhefsTer?) c.6199_6211del c.6657_6669del (p.Leu2220PhefsTer?) c.705-391_705-379del (n.705-391_705-379del) c.3979_3991del c.6381_6393del (p.Leu2128PhefsTer?) c.6093_6105del (p.Leu2032PhefsTer?) c.3621_3633del (p.Leu1208PhefsTer?) | gnomAD v4 |
19 | g.35733202C>A | CA405429716 | KMT2B | n.959C>A c.6587C>A (p.Pro2196Gln) c.4194C>A (n.4194C>A) c.1871C>A (p.Pro624Gln) n.1806C>A c.1874C>A (p.Pro625Gln) c.6195C>A c.6653C>A (p.Pro2218Gln) c.705-395C>A (n.705-395C>A) c.3975C>A c.6377C>A (p.Pro2126Gln) c.6089C>A (p.Pro2030Gln) c.3617C>A (p.Pro1206Gln) | gnomAD v4 |
19 | g.35733202C>G | CA405429719 | KMT2B | n.959C>G c.6587C>G (p.Pro2196Arg) c.4194C>G (n.4194C>G) c.1871C>G (p.Pro624Arg) n.1806C>G c.1874C>G (p.Pro625Arg) c.6195C>G c.6653C>G (p.Pro2218Arg) c.705-395C>G (n.705-395C>G) c.3975C>G c.6377C>G (p.Pro2126Arg) c.6089C>G (p.Pro2030Arg) c.3617C>G (p.Pro1206Arg) | |
19 | g.35733202C>T | CA405429721 | KMT2B | n.959C>T c.6587C>T (p.Pro2196Leu) c.4194C>T (n.4194C>T) c.1871C>T (p.Pro624Leu) n.1806C>T c.1874C>T (p.Pro625Leu) c.6195C>T c.6653C>T (p.Pro2218Leu) c.705-395C>T (n.705-395C>T) c.3975C>T c.6377C>T (p.Pro2126Leu) c.6089C>T (p.Pro2030Leu) c.3617C>T (p.Pro1206Leu) | gnomAD v4 |
19 | g.35733203A>C | CA507308927 | KMT2B | n.960A>C c.6588A>C (p.Pro2196=) c.4195A>C (n.4195A>C) c.1872A>C (p.Pro624=) n.1807A>C c.1875A>C (p.Pro625=) c.6196A>C c.6654A>C (p.Pro2218=) c.705-394A>C (n.705-394A>C) c.3976A>C c.6378A>C (p.Pro2126=) c.6090A>C (p.Pro2030=) c.3618A>C (p.Pro1206=) | gnomAD v3 gnomAD v4 |
19 | g.35733203A>G | CA507308928 | KMT2B | n.960A>G c.6588A>G (p.Pro2196=) c.4195A>G (n.4195A>G) c.1872A>G (p.Pro624=) n.1807A>G c.1875A>G (p.Pro625=) c.6196A>G c.6654A>G (p.Pro2218=) c.705-394A>G (n.705-394A>G) c.3976A>G c.6378A>G (p.Pro2126=) c.6090A>G (p.Pro2030=) c.3618A>G (p.Pro1206=) | gnomAD v4 |
19 | g.35733203A>T | CA507308931 | KMT2B | n.960A>T c.6588A>T (p.Pro2196=) c.4195A>T (n.4195A>T) c.1872A>T (p.Pro624=) n.1807A>T c.1875A>T (p.Pro625=) c.6196A>T c.6654A>T (p.Pro2218=) c.705-394A>T (n.705-394A>T) c.3976A>T c.6378A>T (p.Pro2126=) c.6090A>T (p.Pro2030=) c.3618A>T (p.Pro1206=) | |
19 | g.35733204C>A | CA405429724 | KMT2B | n.961C>A c.6589C>A (p.Pro2197Thr) c.4196C>A (n.4196C>A) c.1873C>A (p.Pro625Thr) n.1808C>A c.1876C>A (p.Pro626Thr) c.6197C>A c.6655C>A (p.Pro2219Thr) c.705-393C>A (n.705-393C>A) c.3977C>A c.6379C>A (p.Pro2127Thr) c.6091C>A (p.Pro2031Thr) c.3619C>A (p.Pro1207Thr) | |
19 | g.35733204C= | CA2333794704 | KMT2B | n.961C= c.6589C= (p.Pro2197=) c.4196C= (n.4196C=) c.1873C= (p.Pro625=) n.1808C= c.1876C= (p.Pro626=) c.6197C= c.6655C= (p.Pro2219=) c.705-393C= (n.705-393C=) c.3977C= c.6379C= (p.Pro2127=) c.6091C= (p.Pro2031=) c.3619C= (p.Pro1207=) | |
19 | g.35733204C>G | CA405429725 | KMT2B | n.961C>G c.6589C>G (p.Pro2197Ala) c.4196C>G (n.4196C>G) c.1873C>G (p.Pro625Ala) n.1808C>G c.1876C>G (p.Pro626Ala) c.6197C>G c.6655C>G (p.Pro2219Ala) c.705-393C>G (n.705-393C>G) c.3977C>G c.6379C>G (p.Pro2127Ala) c.6091C>G (p.Pro2031Ala) c.3619C>G (p.Pro1207Ala) | |
19 | g.35733204C>T | CA405429728 | KMT2B | n.961C>T c.6589C>T (p.Pro2197Ser) c.4196C>T (n.4196C>T) c.1873C>T (p.Pro625Ser) n.1808C>T c.1876C>T (p.Pro626Ser) c.6197C>T c.6655C>T (p.Pro2219Ser) c.705-393C>T (n.705-393C>T) c.3977C>T c.6379C>T (p.Pro2127Ser) c.6091C>T (p.Pro2031Ser) c.3619C>T (p.Pro1207Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35733205C>A | CA405429730 | KMT2B | n.962C>A c.6590C>A (p.Pro2197His) c.4197C>A (n.4197C>A) c.1874C>A (p.Pro625His) n.1809C>A c.1877C>A (p.Pro626His) c.6198C>A c.6656C>A (p.Pro2219His) c.705-392C>A (n.705-392C>A) c.3978C>A c.6380C>A (p.Pro2127His) c.6092C>A (p.Pro2031His) c.3620C>A (p.Pro1207His) | gnomAD v4 |
19 | g.35733205C>G | CA405429732 | KMT2B | n.962C>G c.6590C>G (p.Pro2197Arg) c.4197C>G (n.4197C>G) c.1874C>G (p.Pro625Arg) n.1809C>G c.1877C>G (p.Pro626Arg) c.6198C>G c.6656C>G (p.Pro2219Arg) c.705-392C>G (n.705-392C>G) c.3978C>G c.6380C>G (p.Pro2127Arg) c.6092C>G (p.Pro2031Arg) c.3620C>G (p.Pro1207Arg) | |
19 | g.35733205C>T | CA405429734 | KMT2B | n.962C>T c.6590C>T (p.Pro2197Leu) c.4197C>T (n.4197C>T) c.1874C>T (p.Pro625Leu) n.1809C>T c.1877C>T (p.Pro626Leu) c.6198C>T c.6656C>T (p.Pro2219Leu) c.705-392C>T (n.705-392C>T) c.3978C>T c.6380C>T (p.Pro2127Leu) c.6092C>T (p.Pro2031Leu) c.3620C>T (p.Pro1207Leu) | gnomAD v4 |
19 | g.35733206T>A | CA507308939 | KMT2B | n.963T>A c.6591T>A (p.Pro2197=) c.4198T>A (n.4198T>A) c.1875T>A (p.Pro625=) n.1810T>A c.1878T>A (p.Pro626=) c.6199T>A c.6657T>A (p.Pro2219=) c.705-391T>A (n.705-391T>A) c.3979T>A c.6381T>A (p.Pro2127=) c.6093T>A (p.Pro2031=) c.3621T>A (p.Pro1207=) | gnomAD v4 |
19 | g.35733206T>C | CA507308940 | KMT2B | n.963T>C c.6591T>C (p.Pro2197=) c.4198T>C (n.4198T>C) c.1875T>C (p.Pro625=) n.1810T>C c.1878T>C (p.Pro626=) c.6199T>C c.6657T>C (p.Pro2219=) c.705-391T>C (n.705-391T>C) c.3979T>C c.6381T>C (p.Pro2127=) c.6093T>C (p.Pro2031=) c.3621T>C (p.Pro1207=) | gnomAD v4 |
19 | g.35733206T>G | CA9385734 | KMT2B | n.963T>G c.6591T>G (p.Pro2197=) c.4198T>G (n.4198T>G) c.1875T>G (p.Pro625=) n.1810T>G c.1878T>G (p.Pro626=) c.6199T>G c.6657T>G (p.Pro2219=) c.705-391T>G (n.705-391T>G) c.3979T>G c.6381T>G (p.Pro2127=) c.6093T>G (p.Pro2031=) c.3621T>G (p.Pro1207=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35733206T= | CA2333794705 | KMT2B | n.963T= c.6591T= (p.Pro2197=) c.4198T= (n.4198T=) c.1875T= (p.Pro625=) n.1810T= c.1878T= (p.Pro626=) c.6199T= c.6657T= (p.Pro2219=) c.705-391T= (n.705-391T=) c.3979T= c.6381T= (p.Pro2127=) c.6093T= (p.Pro2031=) c.3621T= (p.Pro1207=) | |
19 | g.35733208del | CA2576757233 | KMT2B | n.965del c.6593del (p.Leu2198CysfsTer?) c.4200del (n.4200del) c.1877del (p.Leu626CysfsTer?) n.1812del c.1880del (p.Leu627CysfsTer?) c.6201del c.6659del (p.Leu2220CysfsTer?) c.705-389del (n.705-389del) c.3981del c.6383del (p.Leu2128CysfsTer?) c.6095del (p.Leu2032CysfsTer?) c.3623del (p.Leu1208CysfsTer?) | |
19 | g.35733207T>A | CA405429741 | KMT2B | n.964T>A c.6592T>A (p.Leu2198Met) c.4199T>A (n.4199T>A) c.1876T>A (p.Leu626Met) n.1811T>A c.1879T>A (p.Leu627Met) c.6200T>A c.6658T>A (p.Leu2220Met) c.705-390T>A (n.705-390T>A) c.3980T>A c.6382T>A (p.Leu2128Met) c.6094T>A (p.Leu2032Met) c.3622T>A (p.Leu1208Met) | |
19 | g.35733207T>C | CA507308944 | KMT2B | n.964T>C c.6592T>C (p.Leu2198=) c.4199T>C (n.4199T>C) c.1876T>C (p.Leu626=) n.1811T>C c.1879T>C (p.Leu627=) c.6200T>C c.6658T>C (p.Leu2220=) c.705-390T>C (n.705-390T>C) c.3980T>C c.6382T>C (p.Leu2128=) c.6094T>C (p.Leu2032=) c.3622T>C (p.Leu1208=) | dbSNP gnomAD v4 |
19 | g.35733207T>G | CA405429739 | KMT2B | n.964T>G c.6592T>G (p.Leu2198Val) c.4199T>G (n.4199T>G) c.1876T>G (p.Leu626Val) n.1811T>G c.1879T>G (p.Leu627Val) c.6200T>G c.6658T>G (p.Leu2220Val) c.705-390T>G (n.705-390T>G) c.3980T>G c.6382T>G (p.Leu2128Val) c.6094T>G (p.Leu2032Val) c.3622T>G (p.Leu1208Val) | |
19 | g.35733207T= | CA2333794706 | KMT2B | n.964T= c.6592T= (p.Leu2198=) c.4199T= (n.4199T=) c.1876T= (p.Leu626=) n.1811T= c.1879T= (p.Leu627=) c.6200T= c.6658T= (p.Leu2220=) c.705-390T= (n.705-390T=) c.3980T= c.6382T= (p.Leu2128=) c.6094T= (p.Leu2032=) c.3622T= (p.Leu1208=) | |
19 | g.35733208T>A | CA405429744 | KMT2B | n.965T>A c.6593T>A (p.Leu2198Ter) c.4200T>A (n.4200T>A) c.1877T>A (p.Leu626Ter) n.1812T>A c.1880T>A (p.Leu627Ter) c.6201T>A c.6659T>A (p.Leu2220Ter) c.705-389T>A (n.705-389T>A) c.3981T>A c.6383T>A (p.Leu2128Ter) c.6095T>A (p.Leu2032Ter) c.3623T>A (p.Leu1208Ter) | |
19 | g.35733208T>C | CA405429746 | KMT2B | n.965T>C c.6593T>C (p.Leu2198Ser) c.4200T>C (n.4200T>C) c.1877T>C (p.Leu626Ser) n.1812T>C c.1880T>C (p.Leu627Ser) c.6201T>C c.6659T>C (p.Leu2220Ser) c.705-389T>C (n.705-389T>C) c.3981T>C c.6383T>C (p.Leu2128Ser) c.6095T>C (p.Leu2032Ser) c.3623T>C (p.Leu1208Ser) | |
19 | g.35733208T>G | CA405429747 | KMT2B | n.965T>G c.6593T>G (p.Leu2198Trp) c.4200T>G (n.4200T>G) c.1877T>G (p.Leu626Trp) n.1812T>G c.1880T>G (p.Leu627Trp) c.6201T>G c.6659T>G (p.Leu2220Trp) c.705-389T>G (n.705-389T>G) c.3981T>G c.6383T>G (p.Leu2128Trp) c.6095T>G (p.Leu2032Trp) c.3623T>G (p.Leu1208Trp) | |
19 | g.35733209G>A | CA507308949 | KMT2B | n.966G>A c.6594G>A (p.Leu2198=) c.4201G>A (n.4201G>A) c.1878G>A (p.Leu626=) n.1813G>A c.1881G>A (p.Leu627=) c.6202G>A c.6660G>A (p.Leu2220=) c.705-388G>A (n.705-388G>A) c.3982G>A c.6384G>A (p.Leu2128=) c.6096G>A (p.Leu2032=) c.3624G>A (p.Leu1208=) | gnomAD v4 |
19 | g.35733209G>C | CA405429750 | KMT2B | n.966G>C c.6594G>C (p.Leu2198Phe) c.4201G>C (n.4201G>C) c.1878G>C (p.Leu626Phe) n.1813G>C c.1881G>C (p.Leu627Phe) c.6202G>C c.6660G>C (p.Leu2220Phe) c.705-388G>C (n.705-388G>C) c.3982G>C c.6384G>C (p.Leu2128Phe) c.6096G>C (p.Leu2032Phe) c.3624G>C (p.Leu1208Phe) | |
19 | g.35733209G>T | CA405429752 | KMT2B | n.966G>T c.6594G>T (p.Leu2198Phe) c.4201G>T (n.4201G>T) c.1878G>T (p.Leu626Phe) n.1813G>T c.1881G>T (p.Leu627Phe) c.6202G>T c.6660G>T (p.Leu2220Phe) c.705-388G>T (n.705-388G>T) c.3982G>T c.6384G>T (p.Leu2128Phe) c.6096G>T (p.Leu2032Phe) c.3624G>T (p.Leu1208Phe) | gnomAD v4 |
19 | g.35733210C>A | CA405429754 | KMT2B | n.967C>A c.6595C>A (p.Pro2199Thr) c.4202C>A (n.4202C>A) c.1879C>A (p.Pro627Thr) n.1814C>A c.1882C>A (p.Pro628Thr) c.6203C>A c.6661C>A (p.Pro2221Thr) c.705-387C>A (n.705-387C>A) c.3983C>A c.6385C>A (p.Pro2129Thr) c.6097C>A (p.Pro2033Thr) c.3625C>A (p.Pro1209Thr) | gnomAD v4 |
19 | g.35733210C= | CA2333794707 | KMT2B | n.967C= c.6595C= (p.Pro2199=) c.4202C= (n.4202C=) c.1879C= (p.Pro627=) n.1814C= c.1882C= (p.Pro628=) c.6203C= c.6661C= (p.Pro2221=) c.705-387C= (n.705-387C=) c.3983C= c.6385C= (p.Pro2129=) c.6097C= (p.Pro2033=) c.3625C= (p.Pro1209=) | |
19 | g.35733210C>G | CA405429756 | KMT2B | n.967C>G c.6595C>G (p.Pro2199Ala) c.4202C>G (n.4202C>G) c.1879C>G (p.Pro627Ala) n.1814C>G c.1882C>G (p.Pro628Ala) c.6203C>G c.6661C>G (p.Pro2221Ala) c.705-387C>G (n.705-387C>G) c.3983C>G c.6385C>G (p.Pro2129Ala) c.6097C>G (p.Pro2033Ala) c.3625C>G (p.Pro1209Ala) | dbSNP |
19 | g.35733210C>T | CA405429758 | KMT2B | n.967C>T c.6595C>T (p.Pro2199Ser) c.4202C>T (n.4202C>T) c.1879C>T (p.Pro627Ser) n.1814C>T c.1882C>T (p.Pro628Ser) c.6203C>T c.6661C>T (p.Pro2221Ser) c.705-387C>T (n.705-387C>T) c.3983C>T c.6385C>T (p.Pro2129Ser) c.6097C>T (p.Pro2033Ser) c.3625C>T (p.Pro1209Ser) | ClinVar dbSNP gnomAD v4 |
19 | g.35733215del | CA645604597 | KMT2B | n.972del c.6600del (p.Thr2201ProfsTer?) c.4207del (n.4207del) c.1884del (p.Thr629ProfsTer?) n.1819del c.1887del (p.Thr630ProfsTer?) c.6208del c.6666del (p.Thr2223ProfsTer?) c.705-382del (n.705-382del) c.3988del c.6390del (p.Thr2131ProfsTer?) c.6102del (p.Thr2035ProfsTer?) c.3630del (p.Thr1211ProfsTer?) | gnomAD v4 COSMIC |
19 | g.35733214_35733215del | CA2576757234 | KMT2B | n.971_972del c.6599_6600del (p.Pro2200HisfsTer?) c.4206_4207del (n.4206_4207del) c.1883_1884del (p.Pro628HisfsTer?) n.1818_1819del c.1886_1887del (p.Pro629HisfsTer?) c.6207_6208del c.6665_6666del (p.Pro2222HisfsTer?) c.705-383_705-382del (n.705-383_705-382del) c.3987_3988del c.6389_6390del (p.Pro2130HisfsTer?) c.6101_6102del (p.Pro2034HisfsTer?) c.3629_3630del (p.Pro1210HisfsTer?) | gnomAD v4 |
19 | g.35733210_35733222delinsCCCCCCACCATTT | CA2333794708 | KMT2B | n.967_979delinsCCCCCCACCATTT c.6595_6607delinsCCCCCCACCATTT (p.Pro2199=) c.4202_4214delinsCCCCCCACCATTT (n.4202_4214delinsCCCCCCACCATTT) c.1879_1891delinsCCCCCCACCATTT (p.Pro627=) n.1814_1826delinsCCCCCCACCATTT c.1882_1894delinsCCCCCCACCATTT (p.Pro628=) c.6203_6215delinsCCCCCCACCATTT c.6661_6673delinsCCCCCCACCATTT (p.Pro2221=) c.705-387_705-375delinsCCCCCCACCATTT (n.705-387_705-375delinsCCCCCCACCATTT) c.3983_3995delinsCCCCCCACCATTT c.6385_6397delinsCCCCCCACCATTT (p.Pro2129=) c.6097_6109delinsCCCCCCACCATTT (p.Pro2033=) c.3625_3637delinsCCCCCCACCATTT (p.Pro1209=) | |
19 | g.35733215_35733227del | CA2584575173 | KMT2B | n.972_984del c.6600_6612del (p.Thr2201ArgfsTer?) c.4207_4219del (n.4207_4219del) c.1884_1896del (p.Thr629ArgfsTer?) n.1819_1831del c.1887_1899del (p.Thr630ArgfsTer?) c.6208_6220del c.6666_6678del (p.Thr2223ArgfsTer?) c.705-382_705-370del (n.705-382_705-370del) c.3988_4000del c.6390_6402del (p.Thr2131ArgfsTer?) c.6102_6114del (p.Thr2035ArgfsTer?) c.3630_3642del (p.Thr1211ArgfsTer?) | gnomAD v4 |
19 | g.35733214_35733227del | CA2584575172 | KMT2B | n.971_984del c.6599_6612del (p.Pro2200HisfsTer?) c.4206_4219del (n.4206_4219del) c.1883_1896del (p.Pro628HisfsTer?) n.1818_1831del c.1886_1899del (p.Pro629HisfsTer?) c.6207_6220del c.6665_6678del (p.Pro2222HisfsTer?) c.705-383_705-370del (n.705-383_705-370del) c.3987_4000del c.6389_6402del (p.Pro2130HisfsTer?) c.6101_6114del (p.Pro2034HisfsTer?) c.3629_3642del (p.Pro1210HisfsTer?) | gnomAD v4 |
19 | g.35733211C>A | CA405429761 | KMT2B | n.968C>A c.6596C>A (p.Pro2199His) c.4203C>A (n.4203C>A) c.1880C>A (p.Pro627His) n.1815C>A c.1883C>A (p.Pro628His) c.6204C>A c.6662C>A (p.Pro2221His) c.705-386C>A (n.705-386C>A) c.3984C>A c.6386C>A (p.Pro2129His) c.6098C>A (p.Pro2033His) c.3626C>A (p.Pro1209His) | gnomAD v4 |
19 | g.35733211C>G | CA405429763 | KMT2B | n.968C>G c.6596C>G (p.Pro2199Arg) c.4203C>G (n.4203C>G) c.1880C>G (p.Pro627Arg) n.1815C>G c.1883C>G (p.Pro628Arg) c.6204C>G c.6662C>G (p.Pro2221Arg) c.705-386C>G (n.705-386C>G) c.3984C>G c.6386C>G (p.Pro2129Arg) c.6098C>G (p.Pro2033Arg) c.3626C>G (p.Pro1209Arg) | |
19 | g.35733211C>T | CA405429765 | KMT2B | n.968C>T c.6596C>T (p.Pro2199Leu) c.4203C>T (n.4203C>T) c.1880C>T (p.Pro627Leu) n.1815C>T c.1883C>T (p.Pro628Leu) c.6204C>T c.6662C>T (p.Pro2221Leu) c.705-386C>T (n.705-386C>T) c.3984C>T c.6386C>T (p.Pro2129Leu) c.6098C>T (p.Pro2033Leu) c.3626C>T (p.Pro1209Leu) | gnomAD v4 |
19 | g.35733218_35733229del | CA995474822 | KMT2B | n.975_986del c.6603_6614del (p.Ile2202_Thr2205del) c.4210_4221del (n.4210_4221del) c.1887_1898del (p.Ile630_Thr633del) n.1822_1833del c.1890_1901del (p.Ile631_Thr634del) c.6211_6222del c.6669_6680del (p.Ile2224_Thr2227del) c.705-379_705-368del (n.705-379_705-368del) c.3991_4002del c.6393_6404del (p.Ile2132_Thr2135del) c.6105_6116del (p.Ile2036_Thr2039del) c.3633_3644del (p.Ile1212_Thr1215del) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35733212C>A | CA507308955 | KMT2B | n.969C>A c.6597C>A (p.Pro2199=) c.4204C>A (n.4204C>A) c.1881C>A (p.Pro627=) n.1816C>A c.1884C>A (p.Pro628=) c.6205C>A c.6663C>A (p.Pro2221=) c.705-385C>A (n.705-385C>A) c.3985C>A c.6387C>A (p.Pro2129=) c.6099C>A (p.Pro2033=) c.3627C>A (p.Pro1209=) | gnomAD v4 |
19 | g.35733212C>G | CA507308956 | KMT2B | n.969C>G c.6597C>G (p.Pro2199=) c.4204C>G (n.4204C>G) c.1881C>G (p.Pro627=) n.1816C>G c.1884C>G (p.Pro628=) c.6205C>G c.6663C>G (p.Pro2221=) c.705-385C>G (n.705-385C>G) c.3985C>G c.6387C>G (p.Pro2129=) c.6099C>G (p.Pro2033=) c.3627C>G (p.Pro1209=) | gnomAD v4 |
19 | g.35733212C>T | CA507308957 | KMT2B | n.969C>T c.6597C>T (p.Pro2199=) c.4204C>T (n.4204C>T) c.1881C>T (p.Pro627=) n.1816C>T c.1884C>T (p.Pro628=) c.6205C>T c.6663C>T (p.Pro2221=) c.705-385C>T (n.705-385C>T) c.3985C>T c.6387C>T (p.Pro2129=) c.6099C>T (p.Pro2033=) c.3627C>T (p.Pro1209=) | gnomAD v4 |
19 | g.35733213C>A | CA405429771 | KMT2B | n.970C>A c.6598C>A (p.Pro2200Thr) c.4205C>A (n.4205C>A) c.1882C>A (p.Pro628Thr) n.1817C>A c.1885C>A (p.Pro629Thr) c.6206C>A c.6664C>A (p.Pro2222Thr) c.705-384C>A (n.705-384C>A) c.3986C>A c.6388C>A (p.Pro2130Thr) c.6100C>A (p.Pro2034Thr) c.3628C>A (p.Pro1210Thr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35733213C= | CA2333794709 | KMT2B | n.970C= c.6598C= (p.Pro2200=) c.4205C= (n.4205C=) c.1882C= (p.Pro628=) n.1817C= c.1885C= (p.Pro629=) c.6206C= c.6664C= (p.Pro2222=) c.705-384C= (n.705-384C=) c.3986C= c.6388C= (p.Pro2130=) c.6100C= (p.Pro2034=) c.3628C= (p.Pro1210=) | |
19 | g.35733213C>G | CA405429767 | KMT2B | n.970C>G c.6598C>G (p.Pro2200Ala) c.4205C>G (n.4205C>G) c.1882C>G (p.Pro628Ala) n.1817C>G c.1885C>G (p.Pro629Ala) c.6206C>G c.6664C>G (p.Pro2222Ala) c.705-384C>G (n.705-384C>G) c.3986C>G c.6388C>G (p.Pro2130Ala) c.6100C>G (p.Pro2034Ala) c.3628C>G (p.Pro1210Ala) | |
19 | g.35733213C>T | CA405429769 | KMT2B | n.970C>T c.6598C>T (p.Pro2200Ser) c.4205C>T (n.4205C>T) c.1882C>T (p.Pro628Ser) n.1817C>T c.1885C>T (p.Pro629Ser) c.6206C>T c.6664C>T (p.Pro2222Ser) c.705-384C>T (n.705-384C>T) c.3986C>T c.6388C>T (p.Pro2130Ser) c.6100C>T (p.Pro2034Ser) c.3628C>T (p.Pro1210Ser) | gnomAD v4 |