Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.152148773T>A | CA16618420 | KMT2C | c.1342A>T n.2286A>T c.13325A>T (p.Lys4442Ile) n.2454A>T n.8346A>T c.3727A>T c.10664A>T (p.Lys3555Ile) n.4784A>T c.3799A>T n.1920A>T n.1870A>T c.1571A>T (p.Lys524Ile) c.8051A>T (p.Lys2684Ile) c.13154A>T (p.Lys4385Ile) c.8941A>T c.3796A>T c.3730A>T n.7865A>T c.8054A>T (p.Lys2685Ile) c.12719A>T (p.Lys4240Ile) c.3731A>T n.2169A>T c.5835A>T c.3005A>T (p.Lys1002Ile) n.11036A>T c.*10674A>T (n.*10674A>T) c.13370A>T (p.Lys4457Ile) c.13367A>T (p.Lys4456Ile) c.13205A>T (p.Lys4402Ile) c.13298A>T (p.Lys4433Ile) c.13202A>T (p.Lys4401Ile) c.13322A>T (p.Lys4441Ile) c.13250A>T (p.Lys4417Ile) c.13217A>T (p.Lys4406Ile) c.13133A>T (p.Lys4378Ile) c.12455A>T (p.Lys4152Ile) c.10916A>T (p.Lys3639Ile) c.13337A>T (p.Lys4446Ile) c.13319A>T (p.Lys4440Ile) c.13295A>T (p.Lys4432Ile) c.13223A>T (p.Lys4408Ile) c.13187A>T (p.Lys4396Ile) c.10040A>T (p.Lys3347Ile) c.9644A>T (p.Lys3215Ile) | ClinVar dbSNP |
7 | g.152148773T>C | CA370092996 | KMT2C | c.1342A>G n.2286A>G c.13325A>G (p.Lys4442Arg) n.2454A>G n.8346A>G c.3727A>G c.10664A>G (p.Lys3555Arg) n.4784A>G c.3799A>G n.1920A>G n.1870A>G c.1571A>G (p.Lys524Arg) c.8051A>G (p.Lys2684Arg) c.13154A>G (p.Lys4385Arg) c.8941A>G c.3796A>G c.3730A>G n.7865A>G c.8054A>G (p.Lys2685Arg) c.12719A>G (p.Lys4240Arg) c.3731A>G n.2169A>G c.5835A>G c.3005A>G (p.Lys1002Arg) n.11036A>G c.*10674A>G (n.*10674A>G) c.13370A>G (p.Lys4457Arg) c.13367A>G (p.Lys4456Arg) c.13205A>G (p.Lys4402Arg) c.13298A>G (p.Lys4433Arg) c.13202A>G (p.Lys4401Arg) c.13322A>G (p.Lys4441Arg) c.13250A>G (p.Lys4417Arg) c.13217A>G (p.Lys4406Arg) c.13133A>G (p.Lys4378Arg) c.12455A>G (p.Lys4152Arg) c.10916A>G (p.Lys3639Arg) c.13337A>G (p.Lys4446Arg) c.13319A>G (p.Lys4440Arg) c.13295A>G (p.Lys4432Arg) c.13223A>G (p.Lys4408Arg) c.13187A>G (p.Lys4396Arg) c.10040A>G (p.Lys3347Arg) c.9644A>G (p.Lys3215Arg) | |
7 | g.152148773T>G | CA370092998 | KMT2C | c.1342A>C n.2286A>C c.13325A>C (p.Lys4442Thr) n.2454A>C n.8346A>C c.3727A>C c.10664A>C (p.Lys3555Thr) n.4784A>C c.3799A>C n.1920A>C n.1870A>C c.1571A>C (p.Lys524Thr) c.8051A>C (p.Lys2684Thr) c.13154A>C (p.Lys4385Thr) c.8941A>C c.3796A>C c.3730A>C n.7865A>C c.8054A>C (p.Lys2685Thr) c.12719A>C (p.Lys4240Thr) c.3731A>C n.2169A>C c.5835A>C c.3005A>C (p.Lys1002Thr) n.11036A>C c.*10674A>C (n.*10674A>C) c.13370A>C (p.Lys4457Thr) c.13367A>C (p.Lys4456Thr) c.13205A>C (p.Lys4402Thr) c.13298A>C (p.Lys4433Thr) c.13202A>C (p.Lys4401Thr) c.13322A>C (p.Lys4441Thr) c.13250A>C (p.Lys4417Thr) c.13217A>C (p.Lys4406Thr) c.13133A>C (p.Lys4378Thr) c.12455A>C (p.Lys4152Thr) c.10916A>C (p.Lys3639Thr) c.13337A>C (p.Lys4446Thr) c.13319A>C (p.Lys4440Thr) c.13295A>C (p.Lys4432Thr) c.13223A>C (p.Lys4408Thr) c.13187A>C (p.Lys4396Thr) c.10040A>C (p.Lys3347Thr) c.9644A>C (p.Lys3215Thr) | |
7 | g.152148773T= | CA1752986289 | KMT2C | c.1342A= n.2286A= c.13325A= (p.Lys4442=) n.2454A= n.8346A= c.3727A= c.10664A= (p.Lys3555=) n.4784A= c.3799A= n.1920A= n.1870A= c.1571A= (p.Lys524=) c.8051A= (p.Lys2684=) c.13154A= (p.Lys4385=) c.8941A= c.3796A= c.3730A= n.7865A= c.8054A= (p.Lys2685=) c.12719A= (p.Lys4240=) c.3731A= n.2169A= c.5835A= c.3005A= (p.Lys1002=) n.11036A= c.*10674A= (n.*10674A=) c.13370A= (p.Lys4457=) c.13367A= (p.Lys4456=) c.13205A= (p.Lys4402=) c.13298A= (p.Lys4433=) c.13202A= (p.Lys4401=) c.13322A= (p.Lys4441=) c.13250A= (p.Lys4417=) c.13217A= (p.Lys4406=) c.13133A= (p.Lys4378=) c.12455A= (p.Lys4152=) c.10916A= (p.Lys3639=) c.13337A= (p.Lys4446=) c.13319A= (p.Lys4440=) c.13295A= (p.Lys4432=) c.13223A= (p.Lys4408=) c.13187A= (p.Lys4396=) c.10040A= (p.Lys3347=) c.9644A= (p.Lys3215=) | |
7 | g.152148774T>A | CA370092999 | KMT2C | c.1341A>T n.2285A>T c.13324A>T (p.Lys4442Ter) n.2453A>T n.8345A>T c.3726A>T c.10663A>T (p.Lys3555Ter) n.4783A>T c.3798A>T n.1919A>T n.1869A>T c.1570A>T (p.Lys524Ter) c.8050A>T (p.Lys2684Ter) c.13153A>T (p.Lys4385Ter) c.8940A>T c.3795A>T c.3729A>T n.7864A>T c.8053A>T (p.Lys2685Ter) c.12718A>T (p.Lys4240Ter) c.3730A>T n.2168A>T c.5834A>T c.3004A>T (p.Lys1002Ter) n.11035A>T c.*10673A>T (n.*10673A>T) c.13369A>T (p.Lys4457Ter) c.13366A>T (p.Lys4456Ter) c.13204A>T (p.Lys4402Ter) c.13297A>T (p.Lys4433Ter) c.13201A>T (p.Lys4401Ter) c.13321A>T (p.Lys4441Ter) c.13249A>T (p.Lys4417Ter) c.13216A>T (p.Lys4406Ter) c.13132A>T (p.Lys4378Ter) c.12454A>T (p.Lys4152Ter) c.10915A>T (p.Lys3639Ter) c.13336A>T (p.Lys4446Ter) c.13318A>T (p.Lys4440Ter) c.13294A>T (p.Lys4432Ter) c.13222A>T (p.Lys4408Ter) c.13186A>T (p.Lys4396Ter) c.10039A>T (p.Lys3347Ter) c.9643A>T (p.Lys3215Ter) | |
7 | g.152148774T>C | CA370093000 | KMT2C | c.1341A>G n.2285A>G c.13324A>G (p.Lys4442Glu) n.2453A>G n.8345A>G c.3726A>G c.10663A>G (p.Lys3555Glu) n.4783A>G c.3798A>G n.1919A>G n.1869A>G c.1570A>G (p.Lys524Glu) c.8050A>G (p.Lys2684Glu) c.13153A>G (p.Lys4385Glu) c.8940A>G c.3795A>G c.3729A>G n.7864A>G c.8053A>G (p.Lys2685Glu) c.12718A>G (p.Lys4240Glu) c.3730A>G n.2168A>G c.5834A>G c.3004A>G (p.Lys1002Glu) n.11035A>G c.*10673A>G (n.*10673A>G) c.13369A>G (p.Lys4457Glu) c.13366A>G (p.Lys4456Glu) c.13204A>G (p.Lys4402Glu) c.13297A>G (p.Lys4433Glu) c.13201A>G (p.Lys4401Glu) c.13321A>G (p.Lys4441Glu) c.13249A>G (p.Lys4417Glu) c.13216A>G (p.Lys4406Glu) c.13132A>G (p.Lys4378Glu) c.12454A>G (p.Lys4152Glu) c.10915A>G (p.Lys3639Glu) c.13336A>G (p.Lys4446Glu) c.13318A>G (p.Lys4440Glu) c.13294A>G (p.Lys4432Glu) c.13222A>G (p.Lys4408Glu) c.13186A>G (p.Lys4396Glu) c.10039A>G (p.Lys3347Glu) c.9643A>G (p.Lys3215Glu) | dbSNP |
7 | g.152148774T>G | CA370093001 | KMT2C | c.1341A>C n.2285A>C c.13324A>C (p.Lys4442Gln) n.2453A>C n.8345A>C c.3726A>C c.10663A>C (p.Lys3555Gln) n.4783A>C c.3798A>C n.1919A>C n.1869A>C c.1570A>C (p.Lys524Gln) c.8050A>C (p.Lys2684Gln) c.13153A>C (p.Lys4385Gln) c.8940A>C c.3795A>C c.3729A>C n.7864A>C c.8053A>C (p.Lys2685Gln) c.12718A>C (p.Lys4240Gln) c.3730A>C n.2168A>C c.5834A>C c.3004A>C (p.Lys1002Gln) n.11035A>C c.*10673A>C (n.*10673A>C) c.13369A>C (p.Lys4457Gln) c.13366A>C (p.Lys4456Gln) c.13204A>C (p.Lys4402Gln) c.13297A>C (p.Lys4433Gln) c.13201A>C (p.Lys4401Gln) c.13321A>C (p.Lys4441Gln) c.13249A>C (p.Lys4417Gln) c.13216A>C (p.Lys4406Gln) c.13132A>C (p.Lys4378Gln) c.12454A>C (p.Lys4152Gln) c.10915A>C (p.Lys3639Gln) c.13336A>C (p.Lys4446Gln) c.13318A>C (p.Lys4440Gln) c.13294A>C (p.Lys4432Gln) c.13222A>C (p.Lys4408Gln) c.13186A>C (p.Lys4396Gln) c.10039A>C (p.Lys3347Gln) c.9643A>C (p.Lys3215Gln) | |
7 | g.152148774T= | CA1752986294 | KMT2C | c.1341A= n.2285A= c.13324A= (p.Lys4442=) n.2453A= n.8345A= c.3726A= c.10663A= (p.Lys3555=) n.4783A= c.3798A= n.1919A= n.1869A= c.1570A= (p.Lys524=) c.8050A= (p.Lys2684=) c.13153A= (p.Lys4385=) c.8940A= c.3795A= c.3729A= n.7864A= c.8053A= (p.Lys2685=) c.12718A= (p.Lys4240=) c.3730A= n.2168A= c.5834A= c.3004A= (p.Lys1002=) n.11035A= c.*10673A= (n.*10673A=) c.13369A= (p.Lys4457=) c.13366A= (p.Lys4456=) c.13204A= (p.Lys4402=) c.13297A= (p.Lys4433=) c.13201A= (p.Lys4401=) c.13321A= (p.Lys4441=) c.13249A= (p.Lys4417=) c.13216A= (p.Lys4406=) c.13132A= (p.Lys4378=) c.12454A= (p.Lys4152=) c.10915A= (p.Lys3639=) c.13336A= (p.Lys4446=) c.13318A= (p.Lys4440=) c.13294A= (p.Lys4432=) c.13222A= (p.Lys4408=) c.13186A= (p.Lys4396=) c.10039A= (p.Lys3347=) c.9643A= (p.Lys3215=) | |
7 | g.152148775C>A | CA370093004 | KMT2C | c.1340G>T n.2284G>T c.13323G>T (p.Lys4441Asn) n.2452G>T n.8344G>T c.3725G>T c.10662G>T (p.Lys3554Asn) n.4782G>T c.3797G>T n.1918G>T n.1868G>T c.1569G>T (p.Lys523Asn) c.8049G>T (p.Lys2683Asn) c.13152G>T (p.Lys4384Asn) c.8939G>T c.3794G>T c.3728G>T n.7863G>T c.8052G>T (p.Lys2684Asn) c.12717G>T (p.Lys4239Asn) c.3729G>T n.2167G>T c.5833G>T c.3003G>T (p.Lys1001Asn) n.11034G>T c.*10672G>T (n.*10672G>T) c.13368G>T (p.Lys4456Asn) c.13365G>T (p.Lys4455Asn) c.13203G>T (p.Lys4401Asn) c.13296G>T (p.Lys4432Asn) c.13200G>T (p.Lys4400Asn) c.13320G>T (p.Lys4440Asn) c.13248G>T (p.Lys4416Asn) c.13215G>T (p.Lys4405Asn) c.13131G>T (p.Lys4377Asn) c.12453G>T (p.Lys4151Asn) c.10914G>T (p.Lys3638Asn) c.13335G>T (p.Lys4445Asn) c.13317G>T (p.Lys4439Asn) c.13293G>T (p.Lys4431Asn) c.13221G>T (p.Lys4407Asn) c.13185G>T (p.Lys4395Asn) c.10038G>T (p.Lys3346Asn) c.9642G>T (p.Lys3214Asn) | |
7 | g.152148775C>G | CA370093003 | KMT2C | c.1340G>C n.2284G>C c.13323G>C (p.Lys4441Asn) n.2452G>C n.8344G>C c.3725G>C c.10662G>C (p.Lys3554Asn) n.4782G>C c.3797G>C n.1918G>C n.1868G>C c.1569G>C (p.Lys523Asn) c.8049G>C (p.Lys2683Asn) c.13152G>C (p.Lys4384Asn) c.8939G>C c.3794G>C c.3728G>C n.7863G>C c.8052G>C (p.Lys2684Asn) c.12717G>C (p.Lys4239Asn) c.3729G>C n.2167G>C c.5833G>C c.3003G>C (p.Lys1001Asn) n.11034G>C c.*10672G>C (n.*10672G>C) c.13368G>C (p.Lys4456Asn) c.13365G>C (p.Lys4455Asn) c.13203G>C (p.Lys4401Asn) c.13296G>C (p.Lys4432Asn) c.13200G>C (p.Lys4400Asn) c.13320G>C (p.Lys4440Asn) c.13248G>C (p.Lys4416Asn) c.13215G>C (p.Lys4405Asn) c.13131G>C (p.Lys4377Asn) c.12453G>C (p.Lys4151Asn) c.10914G>C (p.Lys3638Asn) c.13335G>C (p.Lys4445Asn) c.13317G>C (p.Lys4439Asn) c.13293G>C (p.Lys4431Asn) c.13221G>C (p.Lys4407Asn) c.13185G>C (p.Lys4395Asn) c.10038G>C (p.Lys3346Asn) c.9642G>C (p.Lys3214Asn) | |
7 | g.152148775C>T | CA458884689 | KMT2C | c.1340G>A n.2284G>A c.13323G>A (p.Lys4441=) n.2452G>A n.8344G>A c.3725G>A c.10662G>A (p.Lys3554=) n.4782G>A c.3797G>A n.1918G>A n.1868G>A c.1569G>A (p.Lys523=) c.8049G>A (p.Lys2683=) c.13152G>A (p.Lys4384=) c.8939G>A c.3794G>A c.3728G>A n.7863G>A c.8052G>A (p.Lys2684=) c.12717G>A (p.Lys4239=) c.3729G>A n.2167G>A c.5833G>A c.3003G>A (p.Lys1001=) n.11034G>A c.*10672G>A (n.*10672G>A) c.13368G>A (p.Lys4456=) c.13365G>A (p.Lys4455=) c.13203G>A (p.Lys4401=) c.13296G>A (p.Lys4432=) c.13200G>A (p.Lys4400=) c.13320G>A (p.Lys4440=) c.13248G>A (p.Lys4416=) c.13215G>A (p.Lys4405=) c.13131G>A (p.Lys4377=) c.12453G>A (p.Lys4151=) c.10914G>A (p.Lys3638=) c.13335G>A (p.Lys4445=) c.13317G>A (p.Lys4439=) c.13293G>A (p.Lys4431=) c.13221G>A (p.Lys4407=) c.13185G>A (p.Lys4395=) c.10038G>A (p.Lys3346=) c.9642G>A (p.Lys3214=) | gnomAD v4 |
7 | g.152148776T>A | CA370093007 | KMT2C | c.1339A>T n.2283A>T c.13322A>T (p.Lys4441Met) n.2451A>T n.8343A>T c.3724A>T c.10661A>T (p.Lys3554Met) n.4781A>T c.3796A>T n.1917A>T n.1867A>T c.1568A>T (p.Lys523Met) c.8048A>T (p.Lys2683Met) c.13151A>T (p.Lys4384Met) c.8938A>T c.3793A>T c.3727A>T n.7862A>T c.8051A>T (p.Lys2684Met) c.12716A>T (p.Lys4239Met) c.3728A>T n.2166A>T c.5832A>T c.3002A>T (p.Lys1001Met) n.11033A>T c.*10671A>T (n.*10671A>T) c.13367A>T (p.Lys4456Met) c.13364A>T (p.Lys4455Met) c.13202A>T (p.Lys4401Met) c.13295A>T (p.Lys4432Met) c.13199A>T (p.Lys4400Met) c.13319A>T (p.Lys4440Met) c.13247A>T (p.Lys4416Met) c.13214A>T (p.Lys4405Met) c.13130A>T (p.Lys4377Met) c.12452A>T (p.Lys4151Met) c.10913A>T (p.Lys3638Met) c.13334A>T (p.Lys4445Met) c.13316A>T (p.Lys4439Met) c.13292A>T (p.Lys4431Met) c.13220A>T (p.Lys4407Met) c.13184A>T (p.Lys4395Met) c.10037A>T (p.Lys3346Met) c.9641A>T (p.Lys3214Met) | |
7 | g.152148776T>C | CA4578661 | KMT2C | c.1339A>G n.2283A>G c.13322A>G (p.Lys4441Arg) n.2451A>G n.8343A>G c.3724A>G c.10661A>G (p.Lys3554Arg) n.4781A>G c.3796A>G n.1917A>G n.1867A>G c.1568A>G (p.Lys523Arg) c.8048A>G (p.Lys2683Arg) c.13151A>G (p.Lys4384Arg) c.8938A>G c.3793A>G c.3727A>G n.7862A>G c.8051A>G (p.Lys2684Arg) c.12716A>G (p.Lys4239Arg) c.3728A>G n.2166A>G c.5832A>G c.3002A>G (p.Lys1001Arg) n.11033A>G c.*10671A>G (n.*10671A>G) c.13367A>G (p.Lys4456Arg) c.13364A>G (p.Lys4455Arg) c.13202A>G (p.Lys4401Arg) c.13295A>G (p.Lys4432Arg) c.13199A>G (p.Lys4400Arg) c.13319A>G (p.Lys4440Arg) c.13247A>G (p.Lys4416Arg) c.13214A>G (p.Lys4405Arg) c.13130A>G (p.Lys4377Arg) c.12452A>G (p.Lys4151Arg) c.10913A>G (p.Lys3638Arg) c.13334A>G (p.Lys4445Arg) c.13316A>G (p.Lys4439Arg) c.13292A>G (p.Lys4431Arg) c.13220A>G (p.Lys4407Arg) c.13184A>G (p.Lys4395Arg) c.10037A>G (p.Lys3346Arg) c.9641A>G (p.Lys3214Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.152148776T>G | CA370093009 | KMT2C | c.1339A>C n.2283A>C c.13322A>C (p.Lys4441Thr) n.2451A>C n.8343A>C c.3724A>C c.10661A>C (p.Lys3554Thr) n.4781A>C c.3796A>C n.1917A>C n.1867A>C c.1568A>C (p.Lys523Thr) c.8048A>C (p.Lys2683Thr) c.13151A>C (p.Lys4384Thr) c.8938A>C c.3793A>C c.3727A>C n.7862A>C c.8051A>C (p.Lys2684Thr) c.12716A>C (p.Lys4239Thr) c.3728A>C n.2166A>C c.5832A>C c.3002A>C (p.Lys1001Thr) n.11033A>C c.*10671A>C (n.*10671A>C) c.13367A>C (p.Lys4456Thr) c.13364A>C (p.Lys4455Thr) c.13202A>C (p.Lys4401Thr) c.13295A>C (p.Lys4432Thr) c.13199A>C (p.Lys4400Thr) c.13319A>C (p.Lys4440Thr) c.13247A>C (p.Lys4416Thr) c.13214A>C (p.Lys4405Thr) c.13130A>C (p.Lys4377Thr) c.12452A>C (p.Lys4151Thr) c.10913A>C (p.Lys3638Thr) c.13334A>C (p.Lys4445Thr) c.13316A>C (p.Lys4439Thr) c.13292A>C (p.Lys4431Thr) c.13220A>C (p.Lys4407Thr) c.13184A>C (p.Lys4395Thr) c.10037A>C (p.Lys3346Thr) c.9641A>C (p.Lys3214Thr) | |
7 | g.152148776T= | CA1752986299 | KMT2C | c.1339A= n.2283A= c.13322A= (p.Lys4441=) n.2451A= n.8343A= c.3724A= c.10661A= (p.Lys3554=) n.4781A= c.3796A= n.1917A= n.1867A= c.1568A= (p.Lys523=) c.8048A= (p.Lys2683=) c.13151A= (p.Lys4384=) c.8938A= c.3793A= c.3727A= n.7862A= c.8051A= (p.Lys2684=) c.12716A= (p.Lys4239=) c.3728A= n.2166A= c.5832A= c.3002A= (p.Lys1001=) n.11033A= c.*10671A= (n.*10671A=) c.13367A= (p.Lys4456=) c.13364A= (p.Lys4455=) c.13202A= (p.Lys4401=) c.13295A= (p.Lys4432=) c.13199A= (p.Lys4400=) c.13319A= (p.Lys4440=) c.13247A= (p.Lys4416=) c.13214A= (p.Lys4405=) c.13130A= (p.Lys4377=) c.12452A= (p.Lys4151=) c.10913A= (p.Lys3638=) c.13334A= (p.Lys4445=) c.13316A= (p.Lys4439=) c.13292A= (p.Lys4431=) c.13220A= (p.Lys4407=) c.13184A= (p.Lys4395=) c.10037A= (p.Lys3346=) c.9641A= (p.Lys3214=) | |
7 | g.152148777T>A | CA370093010 | KMT2C | c.1338A>T n.2282A>T c.13321A>T (p.Lys4441Ter) n.2450A>T n.8342A>T c.3723A>T c.10660A>T (p.Lys3554Ter) n.4780A>T c.3795A>T n.1916A>T n.1866A>T c.1567A>T (p.Lys523Ter) c.8047A>T (p.Lys2683Ter) c.13150A>T (p.Lys4384Ter) c.8937A>T c.3792A>T c.3726A>T n.7861A>T c.8050A>T (p.Lys2684Ter) c.12715A>T (p.Lys4239Ter) c.3727A>T n.2165A>T c.5831A>T c.3001A>T (p.Lys1001Ter) n.11032A>T c.*10670A>T (n.*10670A>T) c.13366A>T (p.Lys4456Ter) c.13363A>T (p.Lys4455Ter) c.13201A>T (p.Lys4401Ter) c.13294A>T (p.Lys4432Ter) c.13198A>T (p.Lys4400Ter) c.13318A>T (p.Lys4440Ter) c.13246A>T (p.Lys4416Ter) c.13213A>T (p.Lys4405Ter) c.13129A>T (p.Lys4377Ter) c.12451A>T (p.Lys4151Ter) c.10912A>T (p.Lys3638Ter) c.13333A>T (p.Lys4445Ter) c.13315A>T (p.Lys4439Ter) c.13291A>T (p.Lys4431Ter) c.13219A>T (p.Lys4407Ter) c.13183A>T (p.Lys4395Ter) c.10036A>T (p.Lys3346Ter) c.9640A>T (p.Lys3214Ter) | |
7 | g.152148777T>C | CA4578662 | KMT2C | c.1338A>G n.2282A>G c.13321A>G (p.Lys4441Glu) n.2450A>G n.8342A>G c.3723A>G c.10660A>G (p.Lys3554Glu) n.4780A>G c.3795A>G n.1916A>G n.1866A>G c.1567A>G (p.Lys523Glu) c.8047A>G (p.Lys2683Glu) c.13150A>G (p.Lys4384Glu) c.8937A>G c.3792A>G c.3726A>G n.7861A>G c.8050A>G (p.Lys2684Glu) c.12715A>G (p.Lys4239Glu) c.3727A>G n.2165A>G c.5831A>G c.3001A>G (p.Lys1001Glu) n.11032A>G c.*10670A>G (n.*10670A>G) c.13366A>G (p.Lys4456Glu) c.13363A>G (p.Lys4455Glu) c.13201A>G (p.Lys4401Glu) c.13294A>G (p.Lys4432Glu) c.13198A>G (p.Lys4400Glu) c.13318A>G (p.Lys4440Glu) c.13246A>G (p.Lys4416Glu) c.13213A>G (p.Lys4405Glu) c.13129A>G (p.Lys4377Glu) c.12451A>G (p.Lys4151Glu) c.10912A>G (p.Lys3638Glu) c.13333A>G (p.Lys4445Glu) c.13315A>G (p.Lys4439Glu) c.13291A>G (p.Lys4431Glu) c.13219A>G (p.Lys4407Glu) c.13183A>G (p.Lys4395Glu) c.10036A>G (p.Lys3346Glu) c.9640A>G (p.Lys3214Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.152148777T>G | CA370093012 | KMT2C | c.1338A>C n.2282A>C c.13321A>C (p.Lys4441Gln) n.2450A>C n.8342A>C c.3723A>C c.10660A>C (p.Lys3554Gln) n.4780A>C c.3795A>C n.1916A>C n.1866A>C c.1567A>C (p.Lys523Gln) c.8047A>C (p.Lys2683Gln) c.13150A>C (p.Lys4384Gln) c.8937A>C c.3792A>C c.3726A>C n.7861A>C c.8050A>C (p.Lys2684Gln) c.12715A>C (p.Lys4239Gln) c.3727A>C n.2165A>C c.5831A>C c.3001A>C (p.Lys1001Gln) n.11032A>C c.*10670A>C (n.*10670A>C) c.13366A>C (p.Lys4456Gln) c.13363A>C (p.Lys4455Gln) c.13201A>C (p.Lys4401Gln) c.13294A>C (p.Lys4432Gln) c.13198A>C (p.Lys4400Gln) c.13318A>C (p.Lys4440Gln) c.13246A>C (p.Lys4416Gln) c.13213A>C (p.Lys4405Gln) c.13129A>C (p.Lys4377Gln) c.12451A>C (p.Lys4151Gln) c.10912A>C (p.Lys3638Gln) c.13333A>C (p.Lys4445Gln) c.13315A>C (p.Lys4439Gln) c.13291A>C (p.Lys4431Gln) c.13219A>C (p.Lys4407Gln) c.13183A>C (p.Lys4395Gln) c.10036A>C (p.Lys3346Gln) c.9640A>C (p.Lys3214Gln) | |
7 | g.152148777T= | CA1752986306 | KMT2C | c.1338A= n.2282A= c.13321A= (p.Lys4441=) n.2450A= n.8342A= c.3723A= c.10660A= (p.Lys3554=) n.4780A= c.3795A= n.1916A= n.1866A= c.1567A= (p.Lys523=) c.8047A= (p.Lys2683=) c.13150A= (p.Lys4384=) c.8937A= c.3792A= c.3726A= n.7861A= c.8050A= (p.Lys2684=) c.12715A= (p.Lys4239=) c.3727A= n.2165A= c.5831A= c.3001A= (p.Lys1001=) n.11032A= c.*10670A= (n.*10670A=) c.13366A= (p.Lys4456=) c.13363A= (p.Lys4455=) c.13201A= (p.Lys4401=) c.13294A= (p.Lys4432=) c.13198A= (p.Lys4400=) c.13318A= (p.Lys4440=) c.13246A= (p.Lys4416=) c.13213A= (p.Lys4405=) c.13129A= (p.Lys4377=) c.12451A= (p.Lys4151=) c.10912A= (p.Lys3638=) c.13333A= (p.Lys4445=) c.13315A= (p.Lys4439=) c.13291A= (p.Lys4431=) c.13219A= (p.Lys4407=) c.13183A= (p.Lys4395=) c.10036A= (p.Lys3346=) c.9640A= (p.Lys3214=) | |
7 | g.152148778T>A | CA458884693 | KMT2C | c.1337A>T n.2281A>T c.13320A>T (p.Leu4440=) n.2449A>T n.8341A>T c.3722A>T c.10659A>T (p.Leu3553=) n.4779A>T c.3794A>T n.1915A>T n.1865A>T c.1566A>T (p.Leu522=) c.8046A>T (p.Leu2682=) c.13149A>T (p.Leu4383=) c.8936A>T c.3791A>T c.3725A>T n.7860A>T c.8049A>T (p.Leu2683=) c.12714A>T (p.Leu4238=) c.3726A>T n.2164A>T c.5830A>T c.3000A>T (p.Leu1000=) n.11031A>T c.*10669A>T (n.*10669A>T) c.13365A>T (p.Leu4455=) c.13362A>T (p.Leu4454=) c.13200A>T (p.Leu4400=) c.13293A>T (p.Leu4431=) c.13197A>T (p.Leu4399=) c.13317A>T (p.Leu4439=) c.13245A>T (p.Leu4415=) c.13212A>T (p.Leu4404=) c.13128A>T (p.Leu4376=) c.12450A>T (p.Leu4150=) c.10911A>T (p.Leu3637=) c.13332A>T (p.Leu4444=) c.13314A>T (p.Leu4438=) c.13290A>T (p.Leu4430=) c.13218A>T (p.Leu4406=) c.13182A>T (p.Leu4394=) c.10035A>T (p.Leu3345=) c.9639A>T (p.Leu3213=) | |
7 | g.152148778T>C | CA4578663 | KMT2C | c.1337A>G n.2281A>G c.13320A>G (p.Leu4440=) n.2449A>G n.8341A>G c.3722A>G c.10659A>G (p.Leu3553=) n.4779A>G c.3794A>G n.1915A>G n.1865A>G c.1566A>G (p.Leu522=) c.8046A>G (p.Leu2682=) c.13149A>G (p.Leu4383=) c.8936A>G c.3791A>G c.3725A>G n.7860A>G c.8049A>G (p.Leu2683=) c.12714A>G (p.Leu4238=) c.3726A>G n.2164A>G c.5830A>G c.3000A>G (p.Leu1000=) n.11031A>G c.*10669A>G (n.*10669A>G) c.13365A>G (p.Leu4455=) c.13362A>G (p.Leu4454=) c.13200A>G (p.Leu4400=) c.13293A>G (p.Leu4431=) c.13197A>G (p.Leu4399=) c.13317A>G (p.Leu4439=) c.13245A>G (p.Leu4415=) c.13212A>G (p.Leu4404=) c.13128A>G (p.Leu4376=) c.12450A>G (p.Leu4150=) c.10911A>G (p.Leu3637=) c.13332A>G (p.Leu4444=) c.13314A>G (p.Leu4438=) c.13290A>G (p.Leu4430=) c.13218A>G (p.Leu4406=) c.13182A>G (p.Leu4394=) c.10035A>G (p.Leu3345=) c.9639A>G (p.Leu3213=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.152148778T>G | CA458884694 | KMT2C | c.1337A>C n.2281A>C c.13320A>C (p.Leu4440=) n.2449A>C n.8341A>C c.3722A>C c.10659A>C (p.Leu3553=) n.4779A>C c.3794A>C n.1915A>C n.1865A>C c.1566A>C (p.Leu522=) c.8046A>C (p.Leu2682=) c.13149A>C (p.Leu4383=) c.8936A>C c.3791A>C c.3725A>C n.7860A>C c.8049A>C (p.Leu2683=) c.12714A>C (p.Leu4238=) c.3726A>C n.2164A>C c.5830A>C c.3000A>C (p.Leu1000=) n.11031A>C c.*10669A>C (n.*10669A>C) c.13365A>C (p.Leu4455=) c.13362A>C (p.Leu4454=) c.13200A>C (p.Leu4400=) c.13293A>C (p.Leu4431=) c.13197A>C (p.Leu4399=) c.13317A>C (p.Leu4439=) c.13245A>C (p.Leu4415=) c.13212A>C (p.Leu4404=) c.13128A>C (p.Leu4376=) c.12450A>C (p.Leu4150=) c.10911A>C (p.Leu3637=) c.13332A>C (p.Leu4444=) c.13314A>C (p.Leu4438=) c.13290A>C (p.Leu4430=) c.13218A>C (p.Leu4406=) c.13182A>C (p.Leu4394=) c.10035A>C (p.Leu3345=) c.9639A>C (p.Leu3213=) | |
7 | g.152148778T= | CA1752986308 | KMT2C | c.1337A= n.2281A= c.13320A= (p.Leu4440=) n.2449A= n.8341A= c.3722A= c.10659A= (p.Leu3553=) n.4779A= c.3794A= n.1915A= n.1865A= c.1566A= (p.Leu522=) c.8046A= (p.Leu2682=) c.13149A= (p.Leu4383=) c.8936A= c.3791A= c.3725A= n.7860A= c.8049A= (p.Leu2683=) c.12714A= (p.Leu4238=) c.3726A= n.2164A= c.5830A= c.3000A= (p.Leu1000=) n.11031A= c.*10669A= (n.*10669A=) c.13365A= (p.Leu4455=) c.13362A= (p.Leu4454=) c.13200A= (p.Leu4400=) c.13293A= (p.Leu4431=) c.13197A= (p.Leu4399=) c.13317A= (p.Leu4439=) c.13245A= (p.Leu4415=) c.13212A= (p.Leu4404=) c.13128A= (p.Leu4376=) c.12450A= (p.Leu4150=) c.10911A= (p.Leu3637=) c.13332A= (p.Leu4444=) c.13314A= (p.Leu4438=) c.13290A= (p.Leu4430=) c.13218A= (p.Leu4406=) c.13182A= (p.Leu4394=) c.10035A= (p.Leu3345=) c.9639A= (p.Leu3213=) | |
7 | g.152148779A= | CA1752986313 | KMT2C | c.1336T= n.2280T= c.13319T= (p.Leu4440=) n.2448T= n.8340T= c.3721T= c.10658T= (p.Leu3553=) n.4778T= c.3793T= n.1914T= n.1864T= c.1565T= (p.Leu522=) c.8045T= (p.Leu2682=) c.13148T= (p.Leu4383=) c.8935T= c.3790T= c.3724T= n.7859T= c.8048T= (p.Leu2683=) c.12713T= (p.Leu4238=) c.3725T= n.2163T= c.5829T= c.2999T= (p.Leu1000=) n.11030T= c.*10668T= (n.*10668T=) c.13364T= (p.Leu4455=) c.13361T= (p.Leu4454=) c.13199T= (p.Leu4400=) c.13292T= (p.Leu4431=) c.13196T= (p.Leu4399=) c.13316T= (p.Leu4439=) c.13244T= (p.Leu4415=) c.13211T= (p.Leu4404=) c.13127T= (p.Leu4376=) c.12449T= (p.Leu4150=) c.10910T= (p.Leu3637=) c.13331T= (p.Leu4444=) c.13313T= (p.Leu4438=) c.13289T= (p.Leu4430=) c.13217T= (p.Leu4406=) c.13181T= (p.Leu4394=) c.10034T= (p.Leu3345=) c.9638T= (p.Leu3213=) | |
7 | g.152148779A>C | CA370093014 | KMT2C | c.1336T>G n.2280T>G c.13319T>G (p.Leu4440Arg) n.2448T>G n.8340T>G c.3721T>G c.10658T>G (p.Leu3553Arg) n.4778T>G c.3793T>G n.1914T>G n.1864T>G c.1565T>G (p.Leu522Arg) c.8045T>G (p.Leu2682Arg) c.13148T>G (p.Leu4383Arg) c.8935T>G c.3790T>G c.3724T>G n.7859T>G c.8048T>G (p.Leu2683Arg) c.12713T>G (p.Leu4238Arg) c.3725T>G n.2163T>G c.5829T>G c.2999T>G (p.Leu1000Arg) n.11030T>G c.*10668T>G (n.*10668T>G) c.13364T>G (p.Leu4455Arg) c.13361T>G (p.Leu4454Arg) c.13199T>G (p.Leu4400Arg) c.13292T>G (p.Leu4431Arg) c.13196T>G (p.Leu4399Arg) c.13316T>G (p.Leu4439Arg) c.13244T>G (p.Leu4415Arg) c.13211T>G (p.Leu4404Arg) c.13127T>G (p.Leu4376Arg) c.12449T>G (p.Leu4150Arg) c.10910T>G (p.Leu3637Arg) c.13331T>G (p.Leu4444Arg) c.13313T>G (p.Leu4438Arg) c.13289T>G (p.Leu4430Arg) c.13217T>G (p.Leu4406Arg) c.13181T>G (p.Leu4394Arg) c.10034T>G (p.Leu3345Arg) c.9638T>G (p.Leu3213Arg) | |
7 | g.152148779A>G | CA370093016 | KMT2C | c.1336T>C n.2280T>C c.13319T>C (p.Leu4440Pro) n.2448T>C n.8340T>C c.3721T>C c.10658T>C (p.Leu3553Pro) n.4778T>C c.3793T>C n.1914T>C n.1864T>C c.1565T>C (p.Leu522Pro) c.8045T>C (p.Leu2682Pro) c.13148T>C (p.Leu4383Pro) c.8935T>C c.3790T>C c.3724T>C n.7859T>C c.8048T>C (p.Leu2683Pro) c.12713T>C (p.Leu4238Pro) c.3725T>C n.2163T>C c.5829T>C c.2999T>C (p.Leu1000Pro) n.11030T>C c.*10668T>C (n.*10668T>C) c.13364T>C (p.Leu4455Pro) c.13361T>C (p.Leu4454Pro) c.13199T>C (p.Leu4400Pro) c.13292T>C (p.Leu4431Pro) c.13196T>C (p.Leu4399Pro) c.13316T>C (p.Leu4439Pro) c.13244T>C (p.Leu4415Pro) c.13211T>C (p.Leu4404Pro) c.13127T>C (p.Leu4376Pro) c.12449T>C (p.Leu4150Pro) c.10910T>C (p.Leu3637Pro) c.13331T>C (p.Leu4444Pro) c.13313T>C (p.Leu4438Pro) c.13289T>C (p.Leu4430Pro) c.13217T>C (p.Leu4406Pro) c.13181T>C (p.Leu4394Pro) c.10034T>C (p.Leu3345Pro) c.9638T>C (p.Leu3213Pro) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.152148779A>T | CA370093017 | KMT2C | c.1336T>A n.2280T>A c.13319T>A (p.Leu4440Gln) n.2448T>A n.8340T>A c.3721T>A c.10658T>A (p.Leu3553Gln) n.4778T>A c.3793T>A n.1914T>A n.1864T>A c.1565T>A (p.Leu522Gln) c.8045T>A (p.Leu2682Gln) c.13148T>A (p.Leu4383Gln) c.8935T>A c.3790T>A c.3724T>A n.7859T>A c.8048T>A (p.Leu2683Gln) c.12713T>A (p.Leu4238Gln) c.3725T>A n.2163T>A c.5829T>A c.2999T>A (p.Leu1000Gln) n.11030T>A c.*10668T>A (n.*10668T>A) c.13364T>A (p.Leu4455Gln) c.13361T>A (p.Leu4454Gln) c.13199T>A (p.Leu4400Gln) c.13292T>A (p.Leu4431Gln) c.13196T>A (p.Leu4399Gln) c.13316T>A (p.Leu4439Gln) c.13244T>A (p.Leu4415Gln) c.13211T>A (p.Leu4404Gln) c.13127T>A (p.Leu4376Gln) c.12449T>A (p.Leu4150Gln) c.10910T>A (p.Leu3637Gln) c.13331T>A (p.Leu4444Gln) c.13313T>A (p.Leu4438Gln) c.13289T>A (p.Leu4430Gln) c.13217T>A (p.Leu4406Gln) c.13181T>A (p.Leu4394Gln) c.10034T>A (p.Leu3345Gln) c.9638T>A (p.Leu3213Gln) | |
7 | g.152148780G>A | CA458884696 | KMT2C | c.1335C>T n.2279C>T c.13318C>T (p.Leu4440=) n.2447C>T n.8339C>T c.3720C>T c.10657C>T (p.Leu3553=) n.4777C>T c.3792C>T n.1913C>T n.1863C>T c.1564C>T (p.Leu522=) c.8044C>T (p.Leu2682=) c.13147C>T (p.Leu4383=) c.8934C>T c.3789C>T c.3723C>T n.7858C>T c.8047C>T (p.Leu2683=) c.12712C>T (p.Leu4238=) c.3724C>T n.2162C>T c.5828C>T c.2998C>T (p.Leu1000=) n.11029C>T c.*10667C>T (n.*10667C>T) c.13363C>T (p.Leu4455=) c.13360C>T (p.Leu4454=) c.13198C>T (p.Leu4400=) c.13291C>T (p.Leu4431=) c.13195C>T (p.Leu4399=) c.13315C>T (p.Leu4439=) c.13243C>T (p.Leu4415=) c.13210C>T (p.Leu4404=) c.13126C>T (p.Leu4376=) c.12448C>T (p.Leu4150=) c.10909C>T (p.Leu3637=) c.13330C>T (p.Leu4444=) c.13312C>T (p.Leu4438=) c.13288C>T (p.Leu4430=) c.13216C>T (p.Leu4406=) c.13180C>T (p.Leu4394=) c.10033C>T (p.Leu3345=) c.9637C>T (p.Leu3213=) | gnomAD v4 |
7 | g.152148780G>C | CA370093019 | KMT2C | c.1335C>G n.2279C>G c.13318C>G (p.Leu4440Val) n.2447C>G n.8339C>G c.3720C>G c.10657C>G (p.Leu3553Val) n.4777C>G c.3792C>G n.1913C>G n.1863C>G c.1564C>G (p.Leu522Val) c.8044C>G (p.Leu2682Val) c.13147C>G (p.Leu4383Val) c.8934C>G c.3789C>G c.3723C>G n.7858C>G c.8047C>G (p.Leu2683Val) c.12712C>G (p.Leu4238Val) c.3724C>G n.2162C>G c.5828C>G c.2998C>G (p.Leu1000Val) n.11029C>G c.*10667C>G (n.*10667C>G) c.13363C>G (p.Leu4455Val) c.13360C>G (p.Leu4454Val) c.13198C>G (p.Leu4400Val) c.13291C>G (p.Leu4431Val) c.13195C>G (p.Leu4399Val) c.13315C>G (p.Leu4439Val) c.13243C>G (p.Leu4415Val) c.13210C>G (p.Leu4404Val) c.13126C>G (p.Leu4376Val) c.12448C>G (p.Leu4150Val) c.10909C>G (p.Leu3637Val) c.13330C>G (p.Leu4444Val) c.13312C>G (p.Leu4438Val) c.13288C>G (p.Leu4430Val) c.13216C>G (p.Leu4406Val) c.13180C>G (p.Leu4394Val) c.10033C>G (p.Leu3345Val) c.9637C>G (p.Leu3213Val) | |
7 | g.152148780G>T | CA370093020 | KMT2C | c.1335C>A n.2279C>A c.13318C>A (p.Leu4440Ile) n.2447C>A n.8339C>A c.3720C>A c.10657C>A (p.Leu3553Ile) n.4777C>A c.3792C>A n.1913C>A n.1863C>A c.1564C>A (p.Leu522Ile) c.8044C>A (p.Leu2682Ile) c.13147C>A (p.Leu4383Ile) c.8934C>A c.3789C>A c.3723C>A n.7858C>A c.8047C>A (p.Leu2683Ile) c.12712C>A (p.Leu4238Ile) c.3724C>A n.2162C>A c.5828C>A c.2998C>A (p.Leu1000Ile) n.11029C>A c.*10667C>A (n.*10667C>A) c.13363C>A (p.Leu4455Ile) c.13360C>A (p.Leu4454Ile) c.13198C>A (p.Leu4400Ile) c.13291C>A (p.Leu4431Ile) c.13195C>A (p.Leu4399Ile) c.13315C>A (p.Leu4439Ile) c.13243C>A (p.Leu4415Ile) c.13210C>A (p.Leu4404Ile) c.13126C>A (p.Leu4376Ile) c.12448C>A (p.Leu4150Ile) c.10909C>A (p.Leu3637Ile) c.13330C>A (p.Leu4444Ile) c.13312C>A (p.Leu4438Ile) c.13288C>A (p.Leu4430Ile) c.13216C>A (p.Leu4406Ile) c.13180C>A (p.Leu4394Ile) c.10033C>A (p.Leu3345Ile) c.9637C>A (p.Leu3213Ile) | |
7 | g.152148781A= | CA1752986317 | KMT2C | c.1334T= n.2278T= c.13317T= (p.Phe4439=) n.2446T= n.8338T= c.3719T= c.10656T= (p.Phe3552=) n.4776T= c.3791T= n.1912T= n.1862T= c.1563T= (p.Phe521=) c.8043T= (p.Phe2681=) c.13146T= (p.Phe4382=) c.8933T= c.3788T= c.3722T= n.7857T= c.8046T= (p.Phe2682=) c.12711T= (p.Phe4237=) c.3723T= n.2161T= c.5827T= c.2997T= (p.Phe999=) n.11028T= c.*10666T= (n.*10666T=) c.13362T= (p.Phe4454=) c.13359T= (p.Phe4453=) c.13197T= (p.Phe4399=) c.13290T= (p.Phe4430=) c.13194T= (p.Phe4398=) c.13314T= (p.Phe4438=) c.13242T= (p.Phe4414=) c.13209T= (p.Phe4403=) c.13125T= (p.Phe4375=) c.12447T= (p.Phe4149=) c.10908T= (p.Phe3636=) c.13329T= (p.Phe4443=) c.13311T= (p.Phe4437=) c.13287T= (p.Phe4429=) c.13215T= (p.Phe4405=) c.13179T= (p.Phe4393=) c.10032T= (p.Phe3344=) c.9636T= (p.Phe3212=) | |
7 | g.152148781A>C | CA370093022 | KMT2C | c.1334T>G n.2278T>G c.13317T>G (p.Phe4439Leu) n.2446T>G n.8338T>G c.3719T>G c.10656T>G (p.Phe3552Leu) n.4776T>G c.3791T>G n.1912T>G n.1862T>G c.1563T>G (p.Phe521Leu) c.8043T>G (p.Phe2681Leu) c.13146T>G (p.Phe4382Leu) c.8933T>G c.3788T>G c.3722T>G n.7857T>G c.8046T>G (p.Phe2682Leu) c.12711T>G (p.Phe4237Leu) c.3723T>G n.2161T>G c.5827T>G c.2997T>G (p.Phe999Leu) n.11028T>G c.*10666T>G (n.*10666T>G) c.13362T>G (p.Phe4454Leu) c.13359T>G (p.Phe4453Leu) c.13197T>G (p.Phe4399Leu) c.13290T>G (p.Phe4430Leu) c.13194T>G (p.Phe4398Leu) c.13314T>G (p.Phe4438Leu) c.13242T>G (p.Phe4414Leu) c.13209T>G (p.Phe4403Leu) c.13125T>G (p.Phe4375Leu) c.12447T>G (p.Phe4149Leu) c.10908T>G (p.Phe3636Leu) c.13329T>G (p.Phe4443Leu) c.13311T>G (p.Phe4437Leu) c.13287T>G (p.Phe4429Leu) c.13215T>G (p.Phe4405Leu) c.13179T>G (p.Phe4393Leu) c.10032T>G (p.Phe3344Leu) c.9636T>G (p.Phe3212Leu) | |
7 | g.152148781A>G | CA458884699 | KMT2C | c.1334T>C n.2278T>C c.13317T>C (p.Phe4439=) n.2446T>C n.8338T>C c.3719T>C c.10656T>C (p.Phe3552=) n.4776T>C c.3791T>C n.1912T>C n.1862T>C c.1563T>C (p.Phe521=) c.8043T>C (p.Phe2681=) c.13146T>C (p.Phe4382=) c.8933T>C c.3788T>C c.3722T>C n.7857T>C c.8046T>C (p.Phe2682=) c.12711T>C (p.Phe4237=) c.3723T>C n.2161T>C c.5827T>C c.2997T>C (p.Phe999=) n.11028T>C c.*10666T>C (n.*10666T>C) c.13362T>C (p.Phe4454=) c.13359T>C (p.Phe4453=) c.13197T>C (p.Phe4399=) c.13290T>C (p.Phe4430=) c.13194T>C (p.Phe4398=) c.13314T>C (p.Phe4438=) c.13242T>C (p.Phe4414=) c.13209T>C (p.Phe4403=) c.13125T>C (p.Phe4375=) c.12447T>C (p.Phe4149=) c.10908T>C (p.Phe3636=) c.13329T>C (p.Phe4443=) c.13311T>C (p.Phe4437=) c.13287T>C (p.Phe4429=) c.13215T>C (p.Phe4405=) c.13179T>C (p.Phe4393=) c.10032T>C (p.Phe3344=) c.9636T>C (p.Phe3212=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.152148781A>T | CA370093023 | KMT2C | c.1334T>A n.2278T>A c.13317T>A (p.Phe4439Leu) n.2446T>A n.8338T>A c.3719T>A c.10656T>A (p.Phe3552Leu) n.4776T>A c.3791T>A n.1912T>A n.1862T>A c.1563T>A (p.Phe521Leu) c.8043T>A (p.Phe2681Leu) c.13146T>A (p.Phe4382Leu) c.8933T>A c.3788T>A c.3722T>A n.7857T>A c.8046T>A (p.Phe2682Leu) c.12711T>A (p.Phe4237Leu) c.3723T>A n.2161T>A c.5827T>A c.2997T>A (p.Phe999Leu) n.11028T>A c.*10666T>A (n.*10666T>A) c.13362T>A (p.Phe4454Leu) c.13359T>A (p.Phe4453Leu) c.13197T>A (p.Phe4399Leu) c.13290T>A (p.Phe4430Leu) c.13194T>A (p.Phe4398Leu) c.13314T>A (p.Phe4438Leu) c.13242T>A (p.Phe4414Leu) c.13209T>A (p.Phe4403Leu) c.13125T>A (p.Phe4375Leu) c.12447T>A (p.Phe4149Leu) c.10908T>A (p.Phe3636Leu) c.13329T>A (p.Phe4443Leu) c.13311T>A (p.Phe4437Leu) c.13287T>A (p.Phe4429Leu) c.13215T>A (p.Phe4405Leu) c.13179T>A (p.Phe4393Leu) c.10032T>A (p.Phe3344Leu) c.9636T>A (p.Phe3212Leu) | |
7 | g.152148782A>C | CA370093028 | KMT2C | c.1333T>G n.2277T>G c.13316T>G (p.Phe4439Cys) n.2445T>G n.8337T>G c.3718T>G c.10655T>G (p.Phe3552Cys) n.4775T>G c.3790T>G n.1911T>G n.1861T>G c.1562T>G (p.Phe521Cys) c.8042T>G (p.Phe2681Cys) c.13145T>G (p.Phe4382Cys) c.8932T>G c.3787T>G c.3721T>G n.7856T>G c.8045T>G (p.Phe2682Cys) c.12710T>G (p.Phe4237Cys) c.3722T>G n.2160T>G c.5826T>G c.2996T>G (p.Phe999Cys) n.11027T>G c.*10665T>G (n.*10665T>G) c.13361T>G (p.Phe4454Cys) c.13358T>G (p.Phe4453Cys) c.13196T>G (p.Phe4399Cys) c.13289T>G (p.Phe4430Cys) c.13193T>G (p.Phe4398Cys) c.13313T>G (p.Phe4438Cys) c.13241T>G (p.Phe4414Cys) c.13208T>G (p.Phe4403Cys) c.13124T>G (p.Phe4375Cys) c.12446T>G (p.Phe4149Cys) c.10907T>G (p.Phe3636Cys) c.13328T>G (p.Phe4443Cys) c.13310T>G (p.Phe4437Cys) c.13286T>G (p.Phe4429Cys) c.13214T>G (p.Phe4405Cys) c.13178T>G (p.Phe4393Cys) c.10031T>G (p.Phe3344Cys) c.9635T>G (p.Phe3212Cys) | |
7 | g.152148782A>G | CA370093027 | KMT2C | c.1333T>C n.2277T>C c.13316T>C (p.Phe4439Ser) n.2445T>C n.8337T>C c.3718T>C c.10655T>C (p.Phe3552Ser) n.4775T>C c.3790T>C n.1911T>C n.1861T>C c.1562T>C (p.Phe521Ser) c.8042T>C (p.Phe2681Ser) c.13145T>C (p.Phe4382Ser) c.8932T>C c.3787T>C c.3721T>C n.7856T>C c.8045T>C (p.Phe2682Ser) c.12710T>C (p.Phe4237Ser) c.3722T>C n.2160T>C c.5826T>C c.2996T>C (p.Phe999Ser) n.11027T>C c.*10665T>C (n.*10665T>C) c.13361T>C (p.Phe4454Ser) c.13358T>C (p.Phe4453Ser) c.13196T>C (p.Phe4399Ser) c.13289T>C (p.Phe4430Ser) c.13193T>C (p.Phe4398Ser) c.13313T>C (p.Phe4438Ser) c.13241T>C (p.Phe4414Ser) c.13208T>C (p.Phe4403Ser) c.13124T>C (p.Phe4375Ser) c.12446T>C (p.Phe4149Ser) c.10907T>C (p.Phe3636Ser) c.13328T>C (p.Phe4443Ser) c.13310T>C (p.Phe4437Ser) c.13286T>C (p.Phe4429Ser) c.13214T>C (p.Phe4405Ser) c.13178T>C (p.Phe4393Ser) c.10031T>C (p.Phe3344Ser) c.9635T>C (p.Phe3212Ser) | |
7 | g.152148782A>T | CA370093025 | KMT2C | c.1333T>A n.2277T>A c.13316T>A (p.Phe4439Tyr) n.2445T>A n.8337T>A c.3718T>A c.10655T>A (p.Phe3552Tyr) n.4775T>A c.3790T>A n.1911T>A n.1861T>A c.1562T>A (p.Phe521Tyr) c.8042T>A (p.Phe2681Tyr) c.13145T>A (p.Phe4382Tyr) c.8932T>A c.3787T>A c.3721T>A n.7856T>A c.8045T>A (p.Phe2682Tyr) c.12710T>A (p.Phe4237Tyr) c.3722T>A n.2160T>A c.5826T>A c.2996T>A (p.Phe999Tyr) n.11027T>A c.*10665T>A (n.*10665T>A) c.13361T>A (p.Phe4454Tyr) c.13358T>A (p.Phe4453Tyr) c.13196T>A (p.Phe4399Tyr) c.13289T>A (p.Phe4430Tyr) c.13193T>A (p.Phe4398Tyr) c.13313T>A (p.Phe4438Tyr) c.13241T>A (p.Phe4414Tyr) c.13208T>A (p.Phe4403Tyr) c.13124T>A (p.Phe4375Tyr) c.12446T>A (p.Phe4149Tyr) c.10907T>A (p.Phe3636Tyr) c.13328T>A (p.Phe4443Tyr) c.13310T>A (p.Phe4437Tyr) c.13286T>A (p.Phe4429Tyr) c.13214T>A (p.Phe4405Tyr) c.13178T>A (p.Phe4393Tyr) c.10031T>A (p.Phe3344Tyr) c.9635T>A (p.Phe3212Tyr) | |
7 | g.152148783A>C | CA370093029 | KMT2C | c.1332T>G n.2276T>G c.13315T>G (p.Phe4439Val) n.2444T>G n.8336T>G c.3717T>G c.10654T>G (p.Phe3552Val) n.4774T>G c.3789T>G n.1910T>G n.1860T>G c.1561T>G (p.Phe521Val) c.8041T>G (p.Phe2681Val) c.13144T>G (p.Phe4382Val) c.8931T>G c.3786T>G c.3720T>G n.7855T>G c.8044T>G (p.Phe2682Val) c.12709T>G (p.Phe4237Val) c.3721T>G n.2159T>G c.5825T>G c.2995T>G (p.Phe999Val) n.11026T>G c.*10664T>G (n.*10664T>G) c.13360T>G (p.Phe4454Val) c.13357T>G (p.Phe4453Val) c.13195T>G (p.Phe4399Val) c.13288T>G (p.Phe4430Val) c.13192T>G (p.Phe4398Val) c.13312T>G (p.Phe4438Val) c.13240T>G (p.Phe4414Val) c.13207T>G (p.Phe4403Val) c.13123T>G (p.Phe4375Val) c.12445T>G (p.Phe4149Val) c.10906T>G (p.Phe3636Val) c.13327T>G (p.Phe4443Val) c.13309T>G (p.Phe4437Val) c.13285T>G (p.Phe4429Val) c.13213T>G (p.Phe4405Val) c.13177T>G (p.Phe4393Val) c.10030T>G (p.Phe3344Val) c.9634T>G (p.Phe3212Val) | |
7 | g.152148783A>G | CA370093031 | KMT2C | c.1332T>C n.2276T>C c.13315T>C (p.Phe4439Leu) n.2444T>C n.8336T>C c.3717T>C c.10654T>C (p.Phe3552Leu) n.4774T>C c.3789T>C n.1910T>C n.1860T>C c.1561T>C (p.Phe521Leu) c.8041T>C (p.Phe2681Leu) c.13144T>C (p.Phe4382Leu) c.8931T>C c.3786T>C c.3720T>C n.7855T>C c.8044T>C (p.Phe2682Leu) c.12709T>C (p.Phe4237Leu) c.3721T>C n.2159T>C c.5825T>C c.2995T>C (p.Phe999Leu) n.11026T>C c.*10664T>C (n.*10664T>C) c.13360T>C (p.Phe4454Leu) c.13357T>C (p.Phe4453Leu) c.13195T>C (p.Phe4399Leu) c.13288T>C (p.Phe4430Leu) c.13192T>C (p.Phe4398Leu) c.13312T>C (p.Phe4438Leu) c.13240T>C (p.Phe4414Leu) c.13207T>C (p.Phe4403Leu) c.13123T>C (p.Phe4375Leu) c.12445T>C (p.Phe4149Leu) c.10906T>C (p.Phe3636Leu) c.13327T>C (p.Phe4443Leu) c.13309T>C (p.Phe4437Leu) c.13285T>C (p.Phe4429Leu) c.13213T>C (p.Phe4405Leu) c.13177T>C (p.Phe4393Leu) c.10030T>C (p.Phe3344Leu) c.9634T>C (p.Phe3212Leu) | |
7 | g.152148783A>T | CA370093033 | KMT2C | c.1332T>A n.2276T>A c.13315T>A (p.Phe4439Ile) n.2444T>A n.8336T>A c.3717T>A c.10654T>A (p.Phe3552Ile) n.4774T>A c.3789T>A n.1910T>A n.1860T>A c.1561T>A (p.Phe521Ile) c.8041T>A (p.Phe2681Ile) c.13144T>A (p.Phe4382Ile) c.8931T>A c.3786T>A c.3720T>A n.7855T>A c.8044T>A (p.Phe2682Ile) c.12709T>A (p.Phe4237Ile) c.3721T>A n.2159T>A c.5825T>A c.2995T>A (p.Phe999Ile) n.11026T>A c.*10664T>A (n.*10664T>A) c.13360T>A (p.Phe4454Ile) c.13357T>A (p.Phe4453Ile) c.13195T>A (p.Phe4399Ile) c.13288T>A (p.Phe4430Ile) c.13192T>A (p.Phe4398Ile) c.13312T>A (p.Phe4438Ile) c.13240T>A (p.Phe4414Ile) c.13207T>A (p.Phe4403Ile) c.13123T>A (p.Phe4375Ile) c.12445T>A (p.Phe4149Ile) c.10906T>A (p.Phe3636Ile) c.13327T>A (p.Phe4443Ile) c.13309T>A (p.Phe4437Ile) c.13285T>A (p.Phe4429Ile) c.13213T>A (p.Phe4405Ile) c.13177T>A (p.Phe4393Ile) c.10030T>A (p.Phe3344Ile) c.9634T>A (p.Phe3212Ile) | |
7 | g.152148784T>A | CA370093035 | KMT2C | c.1331A>T n.2275A>T c.13314A>T (p.Glu4438Asp) n.2443A>T n.8335A>T c.3716A>T c.10653A>T (p.Glu3551Asp) n.4773A>T c.3788A>T n.1909A>T n.1859A>T c.1560A>T (p.Glu520Asp) c.8040A>T (p.Glu2680Asp) c.13143A>T (p.Glu4381Asp) c.8930A>T c.3785A>T c.3719A>T n.7854A>T c.8043A>T (p.Glu2681Asp) c.12708A>T (p.Glu4236Asp) c.3720A>T n.2158A>T c.5824A>T c.2994A>T (p.Glu998Asp) n.11025A>T c.*10663A>T (n.*10663A>T) c.13359A>T (p.Glu4453Asp) c.13356A>T (p.Glu4452Asp) c.13194A>T (p.Glu4398Asp) c.13287A>T (p.Glu4429Asp) c.13191A>T (p.Glu4397Asp) c.13311A>T (p.Glu4437Asp) c.13239A>T (p.Glu4413Asp) c.13206A>T (p.Glu4402Asp) c.13122A>T (p.Glu4374Asp) c.12444A>T (p.Glu4148Asp) c.10905A>T (p.Glu3635Asp) c.13326A>T (p.Glu4442Asp) c.13308A>T (p.Glu4436Asp) c.13284A>T (p.Glu4428Asp) c.13212A>T (p.Glu4404Asp) c.13176A>T (p.Glu4392Asp) c.10029A>T (p.Glu3343Asp) c.9633A>T (p.Glu3211Asp) | |
7 | g.152148784T>C | CA4578664 | KMT2C | c.1331A>G n.2275A>G c.13314A>G (p.Glu4438=) n.2443A>G n.8335A>G c.3716A>G c.10653A>G (p.Glu3551=) n.4773A>G c.3788A>G n.1909A>G n.1859A>G c.1560A>G (p.Glu520=) c.8040A>G (p.Glu2680=) c.13143A>G (p.Glu4381=) c.8930A>G c.3785A>G c.3719A>G n.7854A>G c.8043A>G (p.Glu2681=) c.12708A>G (p.Glu4236=) c.3720A>G n.2158A>G c.5824A>G c.2994A>G (p.Glu998=) n.11025A>G c.*10663A>G (n.*10663A>G) c.13359A>G (p.Glu4453=) c.13356A>G (p.Glu4452=) c.13194A>G (p.Glu4398=) c.13287A>G (p.Glu4429=) c.13191A>G (p.Glu4397=) c.13311A>G (p.Glu4437=) c.13239A>G (p.Glu4413=) c.13206A>G (p.Glu4402=) c.13122A>G (p.Glu4374=) c.12444A>G (p.Glu4148=) c.10905A>G (p.Glu3635=) c.13326A>G (p.Glu4442=) c.13308A>G (p.Glu4436=) c.13284A>G (p.Glu4428=) c.13212A>G (p.Glu4404=) c.13176A>G (p.Glu4392=) c.10029A>G (p.Glu3343=) c.9633A>G (p.Glu3211=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.152148784T>G | CA370093037 | KMT2C | c.1331A>C n.2275A>C c.13314A>C (p.Glu4438Asp) n.2443A>C n.8335A>C c.3716A>C c.10653A>C (p.Glu3551Asp) n.4773A>C c.3788A>C n.1909A>C n.1859A>C c.1560A>C (p.Glu520Asp) c.8040A>C (p.Glu2680Asp) c.13143A>C (p.Glu4381Asp) c.8930A>C c.3785A>C c.3719A>C n.7854A>C c.8043A>C (p.Glu2681Asp) c.12708A>C (p.Glu4236Asp) c.3720A>C n.2158A>C c.5824A>C c.2994A>C (p.Glu998Asp) n.11025A>C c.*10663A>C (n.*10663A>C) c.13359A>C (p.Glu4453Asp) c.13356A>C (p.Glu4452Asp) c.13194A>C (p.Glu4398Asp) c.13287A>C (p.Glu4429Asp) c.13191A>C (p.Glu4397Asp) c.13311A>C (p.Glu4437Asp) c.13239A>C (p.Glu4413Asp) c.13206A>C (p.Glu4402Asp) c.13122A>C (p.Glu4374Asp) c.12444A>C (p.Glu4148Asp) c.10905A>C (p.Glu3635Asp) c.13326A>C (p.Glu4442Asp) c.13308A>C (p.Glu4436Asp) c.13284A>C (p.Glu4428Asp) c.13212A>C (p.Glu4404Asp) c.13176A>C (p.Glu4392Asp) c.10029A>C (p.Glu3343Asp) c.9633A>C (p.Glu3211Asp) | |
7 | g.152148784T= | CA1752986319 | KMT2C | c.1331A= n.2275A= c.13314A= (p.Glu4438=) n.2443A= n.8335A= c.3716A= c.10653A= (p.Glu3551=) n.4773A= c.3788A= n.1909A= n.1859A= c.1560A= (p.Glu520=) c.8040A= (p.Glu2680=) c.13143A= (p.Glu4381=) c.8930A= c.3785A= c.3719A= n.7854A= c.8043A= (p.Glu2681=) c.12708A= (p.Glu4236=) c.3720A= n.2158A= c.5824A= c.2994A= (p.Glu998=) n.11025A= c.*10663A= (n.*10663A=) c.13359A= (p.Glu4453=) c.13356A= (p.Glu4452=) c.13194A= (p.Glu4398=) c.13287A= (p.Glu4429=) c.13191A= (p.Glu4397=) c.13311A= (p.Glu4437=) c.13239A= (p.Glu4413=) c.13206A= (p.Glu4402=) c.13122A= (p.Glu4374=) c.12444A= (p.Glu4148=) c.10905A= (p.Glu3635=) c.13326A= (p.Glu4442=) c.13308A= (p.Glu4436=) c.13284A= (p.Glu4428=) c.13212A= (p.Glu4404=) c.13176A= (p.Glu4392=) c.10029A= (p.Glu3343=) c.9633A= (p.Glu3211=) | |
7 | g.152148785T>A | CA370093038 | KMT2C | c.1330A>T n.2274A>T c.13313A>T (p.Glu4438Val) n.2442A>T n.8334A>T c.3715A>T c.10652A>T (p.Glu3551Val) n.4772A>T c.3787A>T n.1908A>T n.1858A>T c.1559A>T (p.Glu520Val) c.8039A>T (p.Glu2680Val) c.13142A>T (p.Glu4381Val) c.8929A>T c.3784A>T c.3718A>T n.7853A>T c.8042A>T (p.Glu2681Val) c.12707A>T (p.Glu4236Val) c.3719A>T n.2157A>T c.5823A>T c.2993A>T (p.Glu998Val) n.11024A>T c.*10662A>T (n.*10662A>T) c.13358A>T (p.Glu4453Val) c.13355A>T (p.Glu4452Val) c.13193A>T (p.Glu4398Val) c.13286A>T (p.Glu4429Val) c.13190A>T (p.Glu4397Val) c.13310A>T (p.Glu4437Val) c.13238A>T (p.Glu4413Val) c.13205A>T (p.Glu4402Val) c.13121A>T (p.Glu4374Val) c.12443A>T (p.Glu4148Val) c.10904A>T (p.Glu3635Val) c.13325A>T (p.Glu4442Val) c.13307A>T (p.Glu4436Val) c.13283A>T (p.Glu4428Val) c.13211A>T (p.Glu4404Val) c.13175A>T (p.Glu4392Val) c.10028A>T (p.Glu3343Val) c.9632A>T (p.Glu3211Val) | |
7 | g.152148785T>C | CA370093040 | KMT2C | c.1330A>G n.2274A>G c.13313A>G (p.Glu4438Gly) n.2442A>G n.8334A>G c.3715A>G c.10652A>G (p.Glu3551Gly) n.4772A>G c.3787A>G n.1908A>G n.1858A>G c.1559A>G (p.Glu520Gly) c.8039A>G (p.Glu2680Gly) c.13142A>G (p.Glu4381Gly) c.8929A>G c.3784A>G c.3718A>G n.7853A>G c.8042A>G (p.Glu2681Gly) c.12707A>G (p.Glu4236Gly) c.3719A>G n.2157A>G c.5823A>G c.2993A>G (p.Glu998Gly) n.11024A>G c.*10662A>G (n.*10662A>G) c.13358A>G (p.Glu4453Gly) c.13355A>G (p.Glu4452Gly) c.13193A>G (p.Glu4398Gly) c.13286A>G (p.Glu4429Gly) c.13190A>G (p.Glu4397Gly) c.13310A>G (p.Glu4437Gly) c.13238A>G (p.Glu4413Gly) c.13205A>G (p.Glu4402Gly) c.13121A>G (p.Glu4374Gly) c.12443A>G (p.Glu4148Gly) c.10904A>G (p.Glu3635Gly) c.13325A>G (p.Glu4442Gly) c.13307A>G (p.Glu4436Gly) c.13283A>G (p.Glu4428Gly) c.13211A>G (p.Glu4404Gly) c.13175A>G (p.Glu4392Gly) c.10028A>G (p.Glu3343Gly) c.9632A>G (p.Glu3211Gly) | |
7 | g.152148785T>G | CA370093042 | KMT2C | c.1330A>C n.2274A>C c.13313A>C (p.Glu4438Ala) n.2442A>C n.8334A>C c.3715A>C c.10652A>C (p.Glu3551Ala) n.4772A>C c.3787A>C n.1908A>C n.1858A>C c.1559A>C (p.Glu520Ala) c.8039A>C (p.Glu2680Ala) c.13142A>C (p.Glu4381Ala) c.8929A>C c.3784A>C c.3718A>C n.7853A>C c.8042A>C (p.Glu2681Ala) c.12707A>C (p.Glu4236Ala) c.3719A>C n.2157A>C c.5823A>C c.2993A>C (p.Glu998Ala) n.11024A>C c.*10662A>C (n.*10662A>C) c.13358A>C (p.Glu4453Ala) c.13355A>C (p.Glu4452Ala) c.13193A>C (p.Glu4398Ala) c.13286A>C (p.Glu4429Ala) c.13190A>C (p.Glu4397Ala) c.13310A>C (p.Glu4437Ala) c.13238A>C (p.Glu4413Ala) c.13205A>C (p.Glu4402Ala) c.13121A>C (p.Glu4374Ala) c.12443A>C (p.Glu4148Ala) c.10904A>C (p.Glu3635Ala) c.13325A>C (p.Glu4442Ala) c.13307A>C (p.Glu4436Ala) c.13283A>C (p.Glu4428Ala) c.13211A>C (p.Glu4404Ala) c.13175A>C (p.Glu4392Ala) c.10028A>C (p.Glu3343Ala) c.9632A>C (p.Glu3211Ala) | |
7 | g.152148786C>A | CA370093043 | KMT2C | c.1329G>T n.2273G>T c.13312G>T (p.Glu4438Ter) n.2441G>T n.8333G>T c.3714G>T c.10651G>T (p.Glu3551Ter) n.4771G>T c.3786G>T n.1907G>T n.1857G>T c.1558G>T (p.Glu520Ter) c.8038G>T (p.Glu2680Ter) c.13141G>T (p.Glu4381Ter) c.8928G>T c.3783G>T c.3717G>T n.7852G>T c.8041G>T (p.Glu2681Ter) c.12706G>T (p.Glu4236Ter) c.3718G>T n.2156G>T c.5822G>T c.2992G>T (p.Glu998Ter) n.11023G>T c.*10661G>T (n.*10661G>T) c.13357G>T (p.Glu4453Ter) c.13354G>T (p.Glu4452Ter) c.13192G>T (p.Glu4398Ter) c.13285G>T (p.Glu4429Ter) c.13189G>T (p.Glu4397Ter) c.13309G>T (p.Glu4437Ter) c.13237G>T (p.Glu4413Ter) c.13204G>T (p.Glu4402Ter) c.13120G>T (p.Glu4374Ter) c.12442G>T (p.Glu4148Ter) c.10903G>T (p.Glu3635Ter) c.13324G>T (p.Glu4442Ter) c.13306G>T (p.Glu4436Ter) c.13282G>T (p.Glu4428Ter) c.13210G>T (p.Glu4404Ter) c.13174G>T (p.Glu4392Ter) c.10027G>T (p.Glu3343Ter) c.9631G>T (p.Glu3211Ter) | |
7 | g.152148786C>G | CA370093045 | KMT2C | c.1329G>C n.2273G>C c.13312G>C (p.Glu4438Gln) n.2441G>C n.8333G>C c.3714G>C c.10651G>C (p.Glu3551Gln) n.4771G>C c.3786G>C n.1907G>C n.1857G>C c.1558G>C (p.Glu520Gln) c.8038G>C (p.Glu2680Gln) c.13141G>C (p.Glu4381Gln) c.8928G>C c.3783G>C c.3717G>C n.7852G>C c.8041G>C (p.Glu2681Gln) c.12706G>C (p.Glu4236Gln) c.3718G>C n.2156G>C c.5822G>C c.2992G>C (p.Glu998Gln) n.11023G>C c.*10661G>C (n.*10661G>C) c.13357G>C (p.Glu4453Gln) c.13354G>C (p.Glu4452Gln) c.13192G>C (p.Glu4398Gln) c.13285G>C (p.Glu4429Gln) c.13189G>C (p.Glu4397Gln) c.13309G>C (p.Glu4437Gln) c.13237G>C (p.Glu4413Gln) c.13204G>C (p.Glu4402Gln) c.13120G>C (p.Glu4374Gln) c.12442G>C (p.Glu4148Gln) c.10903G>C (p.Glu3635Gln) c.13324G>C (p.Glu4442Gln) c.13306G>C (p.Glu4436Gln) c.13282G>C (p.Glu4428Gln) c.13210G>C (p.Glu4404Gln) c.13174G>C (p.Glu4392Gln) c.10027G>C (p.Glu3343Gln) c.9631G>C (p.Glu3211Gln) | |
7 | g.152148786C>T | CA370093046 | KMT2C | c.1329G>A n.2273G>A c.13312G>A (p.Glu4438Lys) n.2441G>A n.8333G>A c.3714G>A c.10651G>A (p.Glu3551Lys) n.4771G>A c.3786G>A n.1907G>A n.1857G>A c.1558G>A (p.Glu520Lys) c.8038G>A (p.Glu2680Lys) c.13141G>A (p.Glu4381Lys) c.8928G>A c.3783G>A c.3717G>A n.7852G>A c.8041G>A (p.Glu2681Lys) c.12706G>A (p.Glu4236Lys) c.3718G>A n.2156G>A c.5822G>A c.2992G>A (p.Glu998Lys) n.11023G>A c.*10661G>A (n.*10661G>A) c.13357G>A (p.Glu4453Lys) c.13354G>A (p.Glu4452Lys) c.13192G>A (p.Glu4398Lys) c.13285G>A (p.Glu4429Lys) c.13189G>A (p.Glu4397Lys) c.13309G>A (p.Glu4437Lys) c.13237G>A (p.Glu4413Lys) c.13204G>A (p.Glu4402Lys) c.13120G>A (p.Glu4374Lys) c.12442G>A (p.Glu4148Lys) c.10903G>A (p.Glu3635Lys) c.13324G>A (p.Glu4442Lys) c.13306G>A (p.Glu4436Lys) c.13282G>A (p.Glu4428Lys) c.13210G>A (p.Glu4404Lys) c.13174G>A (p.Glu4392Lys) c.10027G>A (p.Glu3343Lys) c.9631G>A (p.Glu3211Lys) | gnomAD v4 |