Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.35733120delCA2584575166KMT2Bn.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
19g.35733118A>CCA405429310KMT2Bn.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)
19g.35733118A>GCA405429311KMT2Bn.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
19g.35733118A>TCA405429312KMT2Bn.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)
19g.35733119A=CA2333794670KMT2Bn.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=)
19g.35733119A>CCA405429313KMT2Bn.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)
19g.35733119A>GCA9385725KMT2Bn.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
19g.35733119A>TCA405429315KMT2Bn.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)
19g.35733120A=CA2333794671KMT2Bn.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=)
19g.35733120A>CCA405429318KMT2Bn.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)
19g.35733120A>GCA405429321KMT2Bn.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
19g.35733120A>TCA405429323KMT2Bn.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
19g.35733121T>ACA405429326KMT2Bn.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)
19g.35733121T>CCA405429327KMT2Bn.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)
19g.35733121T>GCA405429329KMT2Bn.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)
19g.35733122C>ACA507308609KMT2Bn.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
19g.35733122C=CA2333794672KMT2Bn.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=)
19g.35733122C>GCA405429331KMT2Bn.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)
19g.35733122C>TCA507308613KMT2Bn.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
19g.35733123A=CA2333794673KMT2Bn.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=)
19g.35733123A>CCA405429334KMT2Bn.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)
19g.35733123A>GCA405429335KMT2Bn.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
19g.35733123A>TCA405429337KMT2Bn.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
19g.35733124T>ACA405429339KMT2Bn.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)
19g.35733124T>CCA405429341KMT2Bn.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)
19g.35733124T>GCA405429342KMT2Bn.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)
19g.35733125A=CA2333794674KMT2Bn.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=)
19g.35733125A>CCA507308618KMT2Bn.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
19g.35733125A>GCA405429345KMT2Bn.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)
19g.35733125A>TCA507308621KMT2Bn.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=)
19g.35733126C>ACA405429348KMT2Bn.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
19g.35733126C>GCA405429350KMT2Bn.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
19g.35733126C>TCA405429352KMT2Bn.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
19g.35733127T>ACA405429355KMT2Bn.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
19g.35733127T>CCA405429357KMT2Bn.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)
19g.35733127T>GCA405429359KMT2Bn.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)
19g.35733128T>ACA507308628KMT2Bn.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
19g.35733128T>CCA507308631KMT2Bn.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
19g.35733128T>GCA507308625KMT2Bn.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=)
19g.35733129G>ACA405429360KMT2Bn.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
19g.35733129G>CCA405429361KMT2Bn.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)
19g.35733129G=CA2333794675KMT2Bn.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=)
19g.35733129G>TCA405429363KMT2Bn.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
19g.35733130T>ACA405429366KMT2Bn.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
19g.35733130T>CCA405429368KMT2Bn.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
19g.35733130T>GCA405429373KMT2Bn.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)
19g.35733131C>ACA507308640KMT2Bn.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
19g.35733131C=CA2333794676KMT2Bn.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=)
19g.35733131C>GCA507308635KMT2Bn.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=)
19g.35733131C>TCA507308638KMT2Bn.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
19g.35733132A>CCA405429376KMT2Bn.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)
19g.35733132A>GCA405429380KMT2Bn.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)
19g.35733132A>TCA405429378KMT2Bn.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)
19g.35733133A>CCA405429381KMT2Bn.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)
19g.35733133A>GCA405429385KMT2Bn.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
19g.35733133A>TCA405429383KMT2Bn.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)
19g.35733134C>ACA405429387KMT2Bn.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)
19g.35733134C=CA2333794677KMT2Bn.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=)
19g.35733134C>GCA405429390KMT2Bn.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)
19g.35733134C>TCA507308646KMT2Bn.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
19g.35733135A>CCA405429393KMT2Bn.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)
19g.35733135A>GCA405429395KMT2Bn.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
19g.35733135A>TCA405429397KMT2Bn.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)
19g.35733136A>CCA405429400KMT2Bn.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)
19g.35733136A>GCA405429402KMT2Bn.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
19g.35733136A>TCA405429403KMT2Bn.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
19g.35733137G>ACA507308656KMT2Bn.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=)
19g.35733137G>CCA405429407KMT2Bn.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)
19g.35733137G>TCA405429408KMT2Bn.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
19g.35733138C>ACA405429411KMT2Bn.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
19g.35733138C>GCA405429414KMT2Bn.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
19g.35733138C>TCA507308662KMT2Bn.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
19g.35733139T>ACA405429421KMT2Bn.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)
19g.35733139T>CCA405429419KMT2Bn.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
19g.35733139T>GCA405429417KMT2Bn.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)
19g.35733140G>ACA507308670KMT2Bn.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
19g.35733140G>CCA307797064KMT2Bn.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
19g.35733140G=CA2333794678KMT2Bn.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=)
19g.35733140G>TCA507308671KMT2Bn.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
19g.35733143delCA2576757228KMT2Bn.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
19g.35733141G>ACA405429424KMT2Bn.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
19g.35733141G>CCA405429426KMT2Bn.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)
19g.35733141G>TCA405429428KMT2Bn.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)
19g.35733142G>ACA405429431KMT2Bn.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
19g.35733142G>CCA405429433KMT2Bn.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)
19g.35733142G>TCA405429435KMT2Bn.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
19g.35733143G>ACA9385726KMT2Bn.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
19g.35733143G>CCA507308678KMT2Bn.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=)
19g.35733143G=CA2333794679KMT2Bn.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=)
19g.35733143G>TCA507308679KMT2Bn.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
19g.35733144C>ACA405429440KMT2Bn.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
19g.35733144C>GCA405429441KMT2Bn.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)
19g.35733144C>TCA405429442KMT2Bn.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)
19g.35733145A>CCA405429445KMT2Bn.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)
19g.35733145A>GCA405429447KMT2Bn.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
19g.35733145A>TCA405429448KMT2Bn.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)
19g.35733146A=CA2333794680KMT2Bn.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=)
19g.35733146A>CCA405429451KMT2Bn.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)
19g.35733146A>GCA507308688KMT2Bn.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
19g.35733146A>TCA405429453KMT2Bn.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)
19g.35733147G>ACA405429456KMT2Bn.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)
19g.35733147G>CCA405429458KMT2Bn.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)
19g.35733147G>TCA405429459KMT2Bn.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)
19g.35733148T>ACA405429462KMT2Bn.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)
19g.35733148T>CCA9385727KMT2Bn.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
19g.35733148T>GCA405429465KMT2Bn.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)
19g.35733148T=CA2333794681KMT2Bn.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=)
19g.35733149A>CCA507308696KMT2Bn.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=)
19g.35733149A>GCA507308698KMT2Bn.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
19g.35733149A>TCA507308700KMT2Bn.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=)
19g.35733150T>ACA405429472KMT2Bn.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)
19g.35733150T>CCA405429468KMT2Bn.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
19g.35733150T>GCA405429470KMT2Bn.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)
19g.35733151T>ACA405429474KMT2Bn.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)
19g.35733151T>CCA405429476KMT2Bn.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)
19g.35733151T>GCA405429478KMT2Bn.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)
19g.35733152T>ACA405429481KMT2Bn.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)
19g.35733152T>CCA507308706KMT2Bn.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
19g.35733152T>GCA405429483KMT2Bn.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
19g.35733152T=CA2333794682KMT2Bn.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=)
19g.35733154_35733155delCA2576757229KMT2Bn.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)
19g.35733153G>ACA9385728KMT2Bn.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
19g.35733153G>CCA405429486KMT2Bn.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)
19g.35733153G=CA2333794683KMT2Bn.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=)
19g.35733153G>TCA405429485KMT2Bn.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
19g.35733154T>ACA405429488KMT2Bn.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)
19g.35733154T>CCA405429489KMT2Bn.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
19g.35733154T>GCA405429492KMT2Bn.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)
19g.35733155G>ACA507308711KMT2Bn.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
19g.35733155G>CCA507308712KMT2Bn.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=)
19g.35733155G>TCA507308713KMT2Bn.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=)
19g.35733156A>CCA405429495KMT2Bn.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)
19g.35733156A>GCA405429497KMT2Bn.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)
19g.35733156A>TCA405429499KMT2Bn.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)
19g.35733157A>CCA405429501KMT2Bn.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
19g.35733157A>GCA405429503KMT2Bn.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
19g.35733157A>TCA405429505KMT2Bn.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)
19g.35733158G>ACA507308723KMT2Bn.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
19g.35733158G>CCA405429508KMT2Bn.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)
19g.35733158G>TCA405429509KMT2Bn.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
19g.35733159A=CA2333794684KMT2Bn.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=)
19g.35733159A>CCA405429512KMT2Bn.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)
19g.35733159A>GCA405429516KMT2Bn.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
19g.35733159A>TCA405429514KMT2Bn.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)
19g.35733160T>ACA405429519KMT2Bn.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)
19g.35733160T>CCA405429520KMT2Bn.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)
19g.35733160T>GCA405429522KMT2Bn.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)
19g.35733161G>ACA405429525KMT2Bn.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
19g.35733161G>CCA405429527KMT2Bn.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)
19g.35733161G>TCA405429529KMT2Bn.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
19g.35733162G>ACA405429535KMT2Bn.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
19g.35733162G>CCA405429534KMT2Bn.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)
19g.35733162G>TCA405429531KMT2Bn.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
19g.35733163C>ACA405429538KMT2Bn.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
19g.35733163C=CA2333794685KMT2Bn.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=)
19g.35733163C>GCA405429540KMT2Bn.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)
19g.35733163C>TCA405429541KMT2Bn.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
19g.35733164T>ACA507308729KMT2Bn.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=)
19g.35733164T>CCA507308733KMT2Bn.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
19g.35733164T>GCA507308736KMT2Bn.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=)
19g.35733165G>ACA405429543KMT2Bn.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
19g.35733165G>CCA405429545KMT2Bn.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)
19g.35733165G=CA2333794686KMT2Bn.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=)
19g.35733165G>TCA405429547KMT2Bn.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
19g.35733168delCA2584575167KMT2Bn.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
19g.35733166G>ACA405429550KMT2Bn.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
19g.35733166G>CCA405429554KMT2Bn.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
19g.35733166G=CA2333794687KMT2Bn.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=)
19g.35733166G>TCA405429552KMT2Bn.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
19g.35733167G>ACA507308748KMT2Bn.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
19g.35733167G>CCA507308750KMT2Bn.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=)
19g.35733167G>TCA507308749KMT2Bn.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
19g.35733168G>ACA405429556KMT2Bn.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
19g.35733168G>CCA9385729KMT2Bn.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
19g.35733168G=CA2333794688KMT2Bn.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=)
19g.35733168G>TCA405429558KMT2Bn.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
19g.35733169delCA2584575168KMT2Bn.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
19g.35733169A>CCA405429561KMT2Bn.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
19g.35733169A>GCA405429563KMT2Bn.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
19g.35733169A>TCA405429566KMT2Bn.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)
19g.35733170G>ACA507308763KMT2Bn.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
19g.35733170G>CCA405429568KMT2Bn.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)
19g.35733170G=CA2333794689KMT2Bn.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=)
19g.35733170G>TCA405429570KMT2Bn.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
19g.35733171G>ACA405429572KMT2Bn.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
19g.35733171G>CCA405429574KMT2Bn.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)
19g.35733171G=CA2333794690KMT2Bn.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=)
19g.35733171G>TCA405429576KMT2Bn.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
19g.35733172G>ACA405429579KMT2Bn.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
19g.35733172G>CCA405429582KMT2Bn.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)
19g.35733172G>TCA405429580KMT2Bn.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
19g.35733173T>ACA507308780KMT2Bn.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=)
19g.35733173T>CCA507308781KMT2Bn.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=)
19g.35733173T>GCA507308783KMT2Bn.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=)
19g.35733174G>ACA405429585KMT2Bn.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)
19g.35733174G>CCA405429587KMT2Bn.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)
19g.35733174G>TCA405429589KMT2Bn.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
19g.35733175A>CCA405429592KMT2Bn.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)
19g.35733175A>GCA405429594KMT2Bn.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
19g.35733175A>TCA405429595KMT2Bn.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)
19g.35733176A=CA2333794691KMT2Bn.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=)
19g.35733176A>CCA405429598KMT2Bn.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
19g.35733176A>GCA507308797KMT2Bn.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=)
19g.35733176A>TCA405429600KMT2Bn.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)
19g.35733177C>ACA405429602KMT2Bn.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
19g.35733177C=CA2333794692KMT2Bn.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=)
19g.35733177C>GCA405429604KMT2Bn.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
19g.35733177C>TCA9385730KMT2Bn.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
19g.35733178C>ACA405429613KMT2Bn.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
19g.35733178C=CA2333794693KMT2Bn.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=)
19g.35733178C>GCA405429610KMT2Bn.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
19g.35733178C>TCA405429608KMT2Bn.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
19g.35733179T>ACA507308809KMT2Bn.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
19g.35733179T>CCA9385731KMT2Bn.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
19g.35733179T>GCA507308810KMT2Bn.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=)
19g.35733179T=CA2333794694KMT2Bn.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=)
19g.35733180G>ACA405429616KMT2Bn.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)
19g.35733180G>CCA405429618KMT2Bn.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
19g.35733180G=CA2333794695KMT2Bn.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=)
19g.35733180G>TCA405429620KMT2Bn.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
19g.35733181T>ACA405429622KMT2Bn.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)
19g.35733181T>CCA405429624KMT2Bn.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
19g.35733181T>GCA405429626KMT2Bn.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)
19g.35733182C>ACA507308824KMT2Bn.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
19g.35733182C>GCA507308826KMT2Bn.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
19g.35733182C>TCA507308828KMT2Bn.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
19g.35733184delCA2584575169KMT2Bn.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
19g.35733183C>ACA405429627KMT2Bn.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
19g.35733183C>GCA405429629KMT2Bn.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)
19g.35733183C>TCA405429632KMT2Bn.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
19g.35733184C>ACA405429635KMT2Bn.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
19g.35733184C>GCA405429637KMT2Bn.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)
19g.35733184C>TCA405429639KMT2Bn.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)
19g.35733185A=CA2333794696KMT2Bn.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=)
19g.35733185A>CCA507308841KMT2Bn.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
19g.35733185A>GCA507308842KMT2Bn.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
19g.35733185A>TCA507308843KMT2Bn.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=)
19g.35733186C>ACA405429642KMT2Bn.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
19g.35733186C=CA2333794697KMT2Bn.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=)
19g.35733186C>GCA405429644KMT2Bn.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
19g.35733186C>TCA405429640KMT2Bn.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
19g.35733188_35733190dupCA2584575170KMT2Bn.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
19g.35733190delCA2576757230KMT2Bn.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
19g.35733187C>ACA307797117KMT2Bn.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
19g.35733187C=CA2333794698KMT2Bn.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=)
19g.35733187C>GCA405429648KMT2Bn.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)
19g.35733187C>TCA9385732KMT2Bn.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
19g.35733188C>ACA507308877KMT2Bn.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
19g.35733188C>GCA507308874KMT2Bn.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=)
19g.35733188C>TCA507308872KMT2Bn.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
19g.35733189C>ACA405429653KMT2Bn.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
19g.35733189C=CA2333794699KMT2Bn.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=)
19g.35733189C>GCA9385733KMT2Bn.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
19g.35733189C>TCA405429654KMT2Bn.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
19g.35733190C>ACA405429659KMT2Bn.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
19g.35733190C=CA2333794700KMT2Bn.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=)
19g.35733190C>GCA405429663KMT2Bn.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
19g.35733190C>TCA405429661KMT2Bn.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
19g.35733191A=CA2333794701KMT2Bn.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=)
19g.35733191A>CCA507308886KMT2Bn.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
19g.35733191A>GCA507308889KMT2Bn.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
19g.35733191A>TCA507308890KMT2Bn.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=)
19g.35733192G>ACA405429665KMT2Bn.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
19g.35733192G>CCA405429669KMT2Bn.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)
19g.35733192G>TCA405429667KMT2Bn.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
19g.35733193T>ACA405429672KMT2Bn.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)
19g.35733193T>CCA405429675KMT2Bn.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)
19g.35733193T>GCA405429673KMT2Bn.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)
19g.35733194delCA2576757231KMT2Bn.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?)
19g.35733194G>ACA507308899KMT2Bn.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
19g.35733194G>CCA507308900KMT2Bn.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=)
19g.35733194G>TCA507308901KMT2Bn.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=)
19g.35733195A>CCA405429677KMT2Bn.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
19g.35733195A>GCA405429680KMT2Bn.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
19g.35733195A>TCA405429678KMT2Bn.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)
19g.35733196A=CA2333794702KMT2Bn.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=)
19g.35733196A>CCA405429682KMT2Bn.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)
19g.35733196A>GCA405429684KMT2Bn.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
19g.35733196A>TCA405429686KMT2Bn.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)
19g.35733197G>ACA507308910KMT2Bn.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=)
19g.35733197G>CCA405429689KMT2Bn.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)
19g.35733197G>TCA405429690KMT2Bn.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
19g.35733198C>ACA405429692KMT2Bn.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
19g.35733198C=CA2333794703KMT2Bn.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=)
19g.35733198C>GCA405429694KMT2Bn.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
19g.35733198C>TCA405429697KMT2Bn.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
19g.35733199A>CCA405429699KMT2Bn.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)
19g.35733199A>GCA405429701KMT2Bn.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
19g.35733199A>TCA405429703KMT2Bn.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)
19g.35733200G>ACA507308916KMT2Bn.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
19g.35733200G>CCA405429708KMT2Bn.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)
19g.35733200G>TCA405429705KMT2Bn.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
19g.35733201C>ACA405429710KMT2Bn.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
19g.35733201C>GCA405429712KMT2Bn.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)
19g.35733201C>TCA405429714KMT2Bn.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
19g.35733202delCA2576757232KMT2Bn.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?)
19g.35733206_35733218delCA2584575171KMT2Bn.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
19g.35733202C>ACA405429716KMT2Bn.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
19g.35733202C>GCA405429719KMT2Bn.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)
19g.35733202C>TCA405429721KMT2Bn.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
19g.35733203A>CCA507308927KMT2Bn.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
19g.35733203A>GCA507308928KMT2Bn.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
19g.35733203A>TCA507308931KMT2Bn.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=)
19g.35733204C>ACA405429724KMT2Bn.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)
19g.35733204C=CA2333794704KMT2Bn.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=)
19g.35733204C>GCA405429725KMT2Bn.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)
19g.35733204C>TCA405429728KMT2Bn.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
19g.35733205C>ACA405429730KMT2Bn.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
19g.35733205C>GCA405429732KMT2Bn.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)
19g.35733205C>TCA405429734KMT2Bn.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
19g.35733206T>ACA507308939KMT2Bn.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
19g.35733206T>CCA507308940KMT2Bn.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
19g.35733206T>GCA9385734KMT2Bn.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
19g.35733206T=CA2333794705KMT2Bn.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=)
19g.35733208delCA2576757233KMT2Bn.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?)
19g.35733207T>ACA405429741KMT2Bn.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)
19g.35733207T>CCA507308944KMT2Bn.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
19g.35733207T>GCA405429739KMT2Bn.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)
19g.35733207T=CA2333794706KMT2Bn.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=)
19g.35733208T>ACA405429744KMT2Bn.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)
19g.35733208T>CCA405429746KMT2Bn.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)
19g.35733208T>GCA405429747KMT2Bn.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)
19g.35733209G>ACA507308949KMT2Bn.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
19g.35733209G>CCA405429750KMT2Bn.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)
19g.35733209G>TCA405429752KMT2Bn.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
19g.35733210C>ACA405429754KMT2Bn.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
19g.35733210C=CA2333794707KMT2Bn.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=)
19g.35733210C>GCA405429756KMT2Bn.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
19g.35733210C>TCA405429758KMT2Bn.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
19g.35733215delCA645604597KMT2Bn.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
19g.35733214_35733215delCA2576757234KMT2Bn.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
19g.35733210_35733222delinsCCCCCCACCATTTCA2333794708KMT2Bn.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=)
19g.35733215_35733227delCA2584575173KMT2Bn.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
19g.35733214_35733227delCA2584575172KMT2Bn.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
19g.35733211C>ACA405429761KMT2Bn.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
19g.35733211C>GCA405429763KMT2Bn.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)
19g.35733211C>TCA405429765KMT2Bn.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
19g.35733218_35733229delCA995474822KMT2Bn.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
19g.35733212C>ACA507308955KMT2Bn.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
19g.35733212C>GCA507308956KMT2Bn.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
19g.35733212C>TCA507308957KMT2Bn.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
19g.35733213C>ACA405429771KMT2Bn.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
19g.35733213C=CA2333794709KMT2Bn.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=)
19g.35733213C>GCA405429767KMT2Bn.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)
19g.35733213C>TCA405429769KMT2Bn.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
19g.35733214C>ACA405429774KMT2Bn.971C>A
c.6599C>A (p.Pro2200His)
c.4206C>A (n.4206C>A)
c.1883C>A (p.Pro628His)
n.1818C>A
c.1886C>A (p.Pro629His)
c.6207C>A
c.6665C>A (p.Pro2222His)
c.705-383C>A (n.705-383C>A)
c.3987C>A
c.6389C>A (p.Pro2130His)
c.6101C>A (p.Pro2034His)
c.3629C>A (p.Pro1210His)
gnomAD v4
19g.35733214C=CA2333794710KMT2Bn.971C=
c.6599C= (p.Pro2200=)
c.4206C= (n.4206C=)
c.1883C= (p.Pro628=)
n.1818C=
c.1886C= (p.Pro629=)
c.6207C=
c.6665C= (p.Pro2222=)
c.705-383C= (n.705-383C=)
c.3987C=
c.6389C= (p.Pro2130=)
c.6101C= (p.Pro2034=)
c.3629C= (p.Pro1210=)
19g.35733214C>GCA405429775KMT2Bn.971C>G
c.6599C>G (p.Pro2200Arg)
c.4206C>G (n.4206C>G)
c.1883C>G (p.Pro628Arg)
n.1818C>G
c.1886C>G (p.Pro629Arg)
c.6207C>G
c.6665C>G (p.Pro2222Arg)
c.705-383C>G (n.705-383C>G)
c.3987C>G
c.6389C>G (p.Pro2130Arg)
c.6101C>G (p.Pro2034Arg)
c.3629C>G (p.Pro1210Arg)
19g.35733214C>TCA405429778KMT2Bn.971C>T
c.6599C>T (p.Pro2200Leu)
c.4206C>T (n.4206C>T)
c.1883C>T (p.Pro628Leu)
n.1818C>T
c.1886C>T (p.Pro629Leu)
c.6207C>T
c.6665C>T (p.Pro2222Leu)
c.705-383C>T (n.705-383C>T)
c.3987C>T
c.6389C>T (p.Pro2130Leu)
c.6101C>T (p.Pro2034Leu)
c.3629C>T (p.Pro1210Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35733217_35733219delCA2584575174KMT2Bn.974_976del
c.6602_6604del (p.Thr2201del)
c.4209_4211del (n.4209_4211del)
c.1886_1888del (p.Thr629del)
n.1821_1823del
c.1889_1891del (p.Thr630del)
c.6210_6212del
c.6668_6670del (p.Thr2223del)
c.705-380_705-378del (n.705-380_705-378del)
c.3990_3992del
c.6392_6394del (p.Thr2131del)
c.6104_6106del (p.Thr2035del)
c.3632_3634del (p.Thr1211del)
gnomAD v4
19g.35733215C>ACA507308968KMT2Bn.972C>A
c.6600C>A (p.Pro2200=)
c.4207C>A (n.4207C>A)
c.1884C>A (p.Pro628=)
n.1819C>A
c.1887C>A (p.Pro629=)
c.6208C>A
c.6666C>A (p.Pro2222=)
c.705-382C>A (n.705-382C>A)
c.3988C>A
c.6390C>A (p.Pro2130=)
c.6102C>A (p.Pro2034=)
c.3630C>A (p.Pro1210=)
gnomAD v4
19g.35733215C=CA2333794711KMT2Bn.972C=
c.6600C= (p.Pro2200=)
c.4207C= (n.4207C=)
c.1884C= (p.Pro628=)
n.1819C=
c.1887C= (p.Pro629=)
c.6208C=
c.6666C= (p.Pro2222=)
c.705-382C= (n.705-382C=)
c.3988C=
c.6390C= (p.Pro2130=)
c.6102C= (p.Pro2034=)
c.3630C= (p.Pro1210=)
19g.35733215C>GCA307797150KMT2Bn.972C>G
c.6600C>G (p.Pro2200=)
c.4207C>G (n.4207C>G)
c.1884C>G (p.Pro628=)
n.1819C>G
c.1887C>G (p.Pro629=)
c.6208C>G
c.6666C>G (p.Pro2222=)
c.705-382C>G (n.705-382C>G)
c.3988C>G
c.6390C>G (p.Pro2130=)
c.6102C>G (p.Pro2034=)
c.3630C>G (p.Pro1210=)
dbSNP gnomAD v3 gnomAD v4
19g.35733215C>TCA9385735KMT2Bn.972C>T
c.6600C>T (p.Pro2200=)
c.4207C>T (n.4207C>T)
c.1884C>T (p.Pro628=)
n.1819C>T
c.1887C>T (p.Pro629=)
c.6208C>T
c.6666C>T (p.Pro2222=)
c.705-382C>T (n.705-382C>T)
c.3988C>T
c.6390C>T (p.Pro2130=)
c.6102C>T (p.Pro2034=)
c.3630C>T (p.Pro1210=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35733216A=CA2333794712KMT2Bn.973A=
c.6601A= (p.Thr2201=)
c.4208A= (n.4208A=)
c.1885A= (p.Thr629=)
n.1820A=
c.1888A= (p.Thr630=)
c.6209A=
c.6667A= (p.Thr2223=)
c.705-381A= (n.705-381A=)
c.3989A=
c.6391A= (p.Thr2131=)
c.6103A= (p.Thr2035=)
c.3631A= (p.Thr1211=)
19g.35733216A>CCA405429782KMT2Bn.973A>C
c.6601A>C (p.Thr2201Pro)
c.4208A>C (n.4208A>C)
c.1885A>C (p.Thr629Pro)
n.1820A>C
c.1888A>C (p.Thr630Pro)
c.6209A>C
c.6667A>C (p.Thr2223Pro)
c.705-381A>C (n.705-381A>C)
c.3989A>C
c.6391A>C (p.Thr2131Pro)
c.6103A>C (p.Thr2035Pro)
c.3631A>C (p.Thr1211Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35733216A>GCA405429783KMT2Bn.973A>G
c.6601A>G (p.Thr2201Ala)
c.4208A>G (n.4208A>G)
c.1885A>G (p.Thr629Ala)
n.1820A>G
c.1888A>G (p.Thr630Ala)
c.6209A>G
c.6667A>G (p.Thr2223Ala)
c.705-381A>G (n.705-381A>G)
c.3989A>G
c.6391A>G (p.Thr2131Ala)
c.6103A>G (p.Thr2035Ala)
c.3631A>G (p.Thr1211Ala)
dbSNP gnomAD v2 gnomAD v4
19g.35733216A>TCA405429784KMT2Bn.973A>T
c.6601A>T (p.Thr2201Ser)
c.4208A>T (n.4208A>T)
c.1885A>T (p.Thr629Ser)
n.1820A>T
c.1888A>T (p.Thr630Ser)
c.6209A>T
c.6667A>T (p.Thr2223Ser)
c.705-381A>T (n.705-381A>T)
c.3989A>T
c.6391A>T (p.Thr2131Ser)
c.6103A>T (p.Thr2035Ser)
c.3631A>T (p.Thr1211Ser)
19g.35733217C>ACA405429787KMT2Bn.974C>A
c.6602C>A (p.Thr2201Asn)
c.4209C>A (n.4209C>A)
c.1886C>A (p.Thr629Asn)
n.1821C>A
c.1889C>A (p.Thr630Asn)
c.6210C>A
c.6668C>A (p.Thr2223Asn)
c.705-380C>A (n.705-380C>A)
c.3990C>A
c.6392C>A (p.Thr2131Asn)
c.6104C>A (p.Thr2035Asn)
c.3632C>A (p.Thr1211Asn)
gnomAD v4
19g.35733217C=CA2333794713KMT2Bn.974C=
c.6602C= (p.Thr2201=)
c.4209C= (n.4209C=)
c.1886C= (p.Thr629=)
n.1821C=
c.1889C= (p.Thr630=)
c.6210C=
c.6668C= (p.Thr2223=)
c.705-380C= (n.705-380C=)
c.3990C=
c.6392C= (p.Thr2131=)
c.6104C= (p.Thr2035=)
c.3632C= (p.Thr1211=)
19g.35733217C>GCA405429789KMT2Bn.974C>G
c.6602C>G (p.Thr2201Ser)
c.4209C>G (n.4209C>G)
c.1886C>G (p.Thr629Ser)
n.1821C>G
c.1889C>G (p.Thr630Ser)
c.6210C>G
c.6668C>G (p.Thr2223Ser)
c.705-380C>G (n.705-380C>G)
c.3990C>G
c.6392C>G (p.Thr2131Ser)
c.6104C>G (p.Thr2035Ser)
c.3632C>G (p.Thr1211Ser)
19g.35733217C>TCA405429791KMT2Bn.974C>T
c.6602C>T (p.Thr2201Ile)
c.4209C>T (n.4209C>T)
c.1886C>T (p.Thr629Ile)
n.1821C>T
c.1889C>T (p.Thr630Ile)
c.6210C>T
c.6668C>T (p.Thr2223Ile)
c.705-380C>T (n.705-380C>T)
c.3990C>T
c.6392C>T (p.Thr2131Ile)
c.6104C>T (p.Thr2035Ile)
c.3632C>T (p.Thr1211Ile)
dbSNP gnomAD v2 gnomAD v4
19g.35733218C>ACA507308974KMT2Bn.975C>A
c.6603C>A (p.Thr2201=)
c.4210C>A (n.4210C>A)
c.1887C>A (p.Thr629=)
n.1822C>A
c.1890C>A (p.Thr630=)
c.6211C>A
c.6669C>A (p.Thr2223=)
c.705-379C>A (n.705-379C>A)
c.3991C>A
c.6393C>A (p.Thr2131=)
c.6105C>A (p.Thr2035=)
c.3633C>A (p.Thr1211=)
gnomAD v4
19g.35733218C=CA2333794714KMT2Bn.975C=
c.6603C= (p.Thr2201=)
c.4210C= (n.4210C=)
c.1887C= (p.Thr629=)
n.1822C=
c.1890C= (p.Thr630=)
c.6211C=
c.6669C= (p.Thr2223=)
c.705-379C= (n.705-379C=)
c.3991C=
c.6393C= (p.Thr2131=)
c.6105C= (p.Thr2035=)
c.3633C= (p.Thr1211=)
19g.35733218C>GCA507308976KMT2Bn.975C>G
c.6603C>G (p.Thr2201=)
c.4210C>G (n.4210C>G)
c.1887C>G (p.Thr629=)
n.1822C>G
c.1890C>G (p.Thr630=)
c.6211C>G
c.6669C>G (p.Thr2223=)
c.705-379C>G (n.705-379C>G)
c.3991C>G
c.6393C>G (p.Thr2131=)
c.6105C>G (p.Thr2035=)
c.3633C>G (p.Thr1211=)
dbSNP gnomAD v4
19g.35733218C>TCA507308977KMT2Bn.975C>T
c.6603C>T (p.Thr2201=)
c.4210C>T (n.4210C>T)
c.1887C>T (p.Thr629=)
n.1822C>T
c.1890C>T (p.Thr630=)
c.6211C>T
c.6669C>T (p.Thr2223=)
c.705-379C>T (n.705-379C>T)
c.3991C>T
c.6393C>T (p.Thr2131=)
c.6105C>T (p.Thr2035=)
c.3633C>T (p.Thr1211=)
ClinVar dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched