Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.152148583T>A | CA458884743 | KMT2C | c.1532A>T n.2476A>T c.13515A>T (p.Ile4505=) n.2644A>T n.8536A>T c.3917A>T c.10854A>T (p.Ile3618=) n.4974A>T c.3989A>T n.2110A>T n.2060A>T c.1761A>T (p.Ile587=) c.8241A>T (p.Ile2747=) n.102A>T c.13344A>T (p.Ile4448=) c.9131A>T c.3986A>T c.3920A>T n.8055A>T c.8244A>T (p.Ile2748=) c.12909A>T (p.Ile4303=) c.3921A>T n.2359A>T c.6025A>T c.3195A>T (p.Ile1065=) n.11226A>T c.*10864A>T (n.*10864A>T) c.13560A>T (p.Ile4520=) c.13557A>T (p.Ile4519=) c.13395A>T (p.Ile4465=) c.13488A>T (p.Ile4496=) c.13392A>T (p.Ile4464=) c.13512A>T (p.Ile4504=) c.13440A>T (p.Ile4480=) c.13407A>T (p.Ile4469=) c.13323A>T (p.Ile4441=) c.12645A>T (p.Ile4215=) c.11106A>T (p.Ile3702=) c.13527A>T (p.Ile4509=) c.13509A>T (p.Ile4503=) c.13485A>T (p.Ile4495=) c.13413A>T (p.Ile4471=) c.13377A>T (p.Ile4459=) c.10230A>T (p.Ile3410=) c.9834A>T (p.Ile3278=) | |
7 | g.152148583T>C | CA370091467 | KMT2C | c.1532A>G n.2476A>G c.13515A>G (p.Ile4505Met) n.2644A>G n.8536A>G c.3917A>G c.10854A>G (p.Ile3618Met) n.4974A>G c.3989A>G n.2110A>G n.2060A>G c.1761A>G (p.Ile587Met) c.8241A>G (p.Ile2747Met) n.102A>G c.13344A>G (p.Ile4448Met) c.9131A>G c.3986A>G c.3920A>G n.8055A>G c.8244A>G (p.Ile2748Met) c.12909A>G (p.Ile4303Met) c.3921A>G n.2359A>G c.6025A>G c.3195A>G (p.Ile1065Met) n.11226A>G c.*10864A>G (n.*10864A>G) c.13560A>G (p.Ile4520Met) c.13557A>G (p.Ile4519Met) c.13395A>G (p.Ile4465Met) c.13488A>G (p.Ile4496Met) c.13392A>G (p.Ile4464Met) c.13512A>G (p.Ile4504Met) c.13440A>G (p.Ile4480Met) c.13407A>G (p.Ile4469Met) c.13323A>G (p.Ile4441Met) c.12645A>G (p.Ile4215Met) c.11106A>G (p.Ile3702Met) c.13527A>G (p.Ile4509Met) c.13509A>G (p.Ile4503Met) c.13485A>G (p.Ile4495Met) c.13413A>G (p.Ile4471Met) c.13377A>G (p.Ile4459Met) c.10230A>G (p.Ile3410Met) c.9834A>G (p.Ile3278Met) | gnomAD v4 |
7 | g.152148583T>G | CA458884744 | KMT2C | c.1532A>C n.2476A>C c.13515A>C (p.Ile4505=) n.2644A>C n.8536A>C c.3917A>C c.10854A>C (p.Ile3618=) n.4974A>C c.3989A>C n.2110A>C n.2060A>C c.1761A>C (p.Ile587=) c.8241A>C (p.Ile2747=) n.102A>C c.13344A>C (p.Ile4448=) c.9131A>C c.3986A>C c.3920A>C n.8055A>C c.8244A>C (p.Ile2748=) c.12909A>C (p.Ile4303=) c.3921A>C n.2359A>C c.6025A>C c.3195A>C (p.Ile1065=) n.11226A>C c.*10864A>C (n.*10864A>C) c.13560A>C (p.Ile4520=) c.13557A>C (p.Ile4519=) c.13395A>C (p.Ile4465=) c.13488A>C (p.Ile4496=) c.13392A>C (p.Ile4464=) c.13512A>C (p.Ile4504=) c.13440A>C (p.Ile4480=) c.13407A>C (p.Ile4469=) c.13323A>C (p.Ile4441=) c.12645A>C (p.Ile4215=) c.11106A>C (p.Ile3702=) c.13527A>C (p.Ile4509=) c.13509A>C (p.Ile4503=) c.13485A>C (p.Ile4495=) c.13413A>C (p.Ile4471=) c.13377A>C (p.Ile4459=) c.10230A>C (p.Ile3410=) c.9834A>C (p.Ile3278=) | |
7 | g.152148584A>C | CA370091468 | KMT2C | c.1531T>G n.2475T>G c.13514T>G (p.Ile4505Arg) n.2643T>G n.8535T>G c.3916T>G c.10853T>G (p.Ile3618Arg) n.4973T>G c.3988T>G n.2109T>G n.2059T>G c.1760T>G (p.Ile587Arg) c.8240T>G (p.Ile2747Arg) n.101T>G c.13343T>G (p.Ile4448Arg) c.9130T>G c.3985T>G c.3919T>G n.8054T>G c.8243T>G (p.Ile2748Arg) c.12908T>G (p.Ile4303Arg) c.3920T>G n.2358T>G c.6024T>G c.3194T>G (p.Ile1065Arg) n.11225T>G c.*10863T>G (n.*10863T>G) c.13559T>G (p.Ile4520Arg) c.13556T>G (p.Ile4519Arg) c.13394T>G (p.Ile4465Arg) c.13487T>G (p.Ile4496Arg) c.13391T>G (p.Ile4464Arg) c.13511T>G (p.Ile4504Arg) c.13439T>G (p.Ile4480Arg) c.13406T>G (p.Ile4469Arg) c.13322T>G (p.Ile4441Arg) c.12644T>G (p.Ile4215Arg) c.11105T>G (p.Ile3702Arg) c.13526T>G (p.Ile4509Arg) c.13508T>G (p.Ile4503Arg) c.13484T>G (p.Ile4495Arg) c.13412T>G (p.Ile4471Arg) c.13376T>G (p.Ile4459Arg) c.10229T>G (p.Ile3410Arg) c.9833T>G (p.Ile3278Arg) | |
7 | g.152148584A>G | CA370091470 | KMT2C | c.1531T>C n.2475T>C c.13514T>C (p.Ile4505Thr) n.2643T>C n.8535T>C c.3916T>C c.10853T>C (p.Ile3618Thr) n.4973T>C c.3988T>C n.2109T>C n.2059T>C c.1760T>C (p.Ile587Thr) c.8240T>C (p.Ile2747Thr) n.101T>C c.13343T>C (p.Ile4448Thr) c.9130T>C c.3985T>C c.3919T>C n.8054T>C c.8243T>C (p.Ile2748Thr) c.12908T>C (p.Ile4303Thr) c.3920T>C n.2358T>C c.6024T>C c.3194T>C (p.Ile1065Thr) n.11225T>C c.*10863T>C (n.*10863T>C) c.13559T>C (p.Ile4520Thr) c.13556T>C (p.Ile4519Thr) c.13394T>C (p.Ile4465Thr) c.13487T>C (p.Ile4496Thr) c.13391T>C (p.Ile4464Thr) c.13511T>C (p.Ile4504Thr) c.13439T>C (p.Ile4480Thr) c.13406T>C (p.Ile4469Thr) c.13322T>C (p.Ile4441Thr) c.12644T>C (p.Ile4215Thr) c.11105T>C (p.Ile3702Thr) c.13526T>C (p.Ile4509Thr) c.13508T>C (p.Ile4503Thr) c.13484T>C (p.Ile4495Thr) c.13412T>C (p.Ile4471Thr) c.13376T>C (p.Ile4459Thr) c.10229T>C (p.Ile3410Thr) c.9833T>C (p.Ile3278Thr) | |
7 | g.152148584A>T | CA370091472 | KMT2C | c.1531T>A n.2475T>A c.13514T>A (p.Ile4505Lys) n.2643T>A n.8535T>A c.3916T>A c.10853T>A (p.Ile3618Lys) n.4973T>A c.3988T>A n.2109T>A n.2059T>A c.1760T>A (p.Ile587Lys) c.8240T>A (p.Ile2747Lys) n.101T>A c.13343T>A (p.Ile4448Lys) c.9130T>A c.3985T>A c.3919T>A n.8054T>A c.8243T>A (p.Ile2748Lys) c.12908T>A (p.Ile4303Lys) c.3920T>A n.2358T>A c.6024T>A c.3194T>A (p.Ile1065Lys) n.11225T>A c.*10863T>A (n.*10863T>A) c.13559T>A (p.Ile4520Lys) c.13556T>A (p.Ile4519Lys) c.13394T>A (p.Ile4465Lys) c.13487T>A (p.Ile4496Lys) c.13391T>A (p.Ile4464Lys) c.13511T>A (p.Ile4504Lys) c.13439T>A (p.Ile4480Lys) c.13406T>A (p.Ile4469Lys) c.13322T>A (p.Ile4441Lys) c.12644T>A (p.Ile4215Lys) c.11105T>A (p.Ile3702Lys) c.13526T>A (p.Ile4509Lys) c.13508T>A (p.Ile4503Lys) c.13484T>A (p.Ile4495Lys) c.13412T>A (p.Ile4471Lys) c.13376T>A (p.Ile4459Lys) c.10229T>A (p.Ile3410Lys) c.9833T>A (p.Ile3278Lys) | |
7 | g.152148585T>A | CA370091474 | KMT2C | c.1530A>T n.2474A>T c.13513A>T (p.Ile4505Leu) n.2642A>T n.8534A>T c.3915A>T c.10852A>T (p.Ile3618Leu) n.4972A>T c.3987A>T n.2108A>T n.2058A>T c.1759A>T (p.Ile587Leu) c.8239A>T (p.Ile2747Leu) n.100A>T c.13342A>T (p.Ile4448Leu) c.9129A>T c.3984A>T c.3918A>T n.8053A>T c.8242A>T (p.Ile2748Leu) c.12907A>T (p.Ile4303Leu) c.3919A>T n.2357A>T c.6023A>T c.3193A>T (p.Ile1065Leu) n.11224A>T c.*10862A>T (n.*10862A>T) c.13558A>T (p.Ile4520Leu) c.13555A>T (p.Ile4519Leu) c.13393A>T (p.Ile4465Leu) c.13486A>T (p.Ile4496Leu) c.13390A>T (p.Ile4464Leu) c.13510A>T (p.Ile4504Leu) c.13438A>T (p.Ile4480Leu) c.13405A>T (p.Ile4469Leu) c.13321A>T (p.Ile4441Leu) c.12643A>T (p.Ile4215Leu) c.11104A>T (p.Ile3702Leu) c.13525A>T (p.Ile4509Leu) c.13507A>T (p.Ile4503Leu) c.13483A>T (p.Ile4495Leu) c.13411A>T (p.Ile4471Leu) c.13375A>T (p.Ile4459Leu) c.10228A>T (p.Ile3410Leu) c.9832A>T (p.Ile3278Leu) | |
7 | g.152148585T>C | CA4578640 | KMT2C | c.1530A>G n.2474A>G c.13513A>G (p.Ile4505Val) n.2642A>G n.8534A>G c.3915A>G c.10852A>G (p.Ile3618Val) n.4972A>G c.3987A>G n.2108A>G n.2058A>G c.1759A>G (p.Ile587Val) c.8239A>G (p.Ile2747Val) n.100A>G c.13342A>G (p.Ile4448Val) c.9129A>G c.3984A>G c.3918A>G n.8053A>G c.8242A>G (p.Ile2748Val) c.12907A>G (p.Ile4303Val) c.3919A>G n.2357A>G c.6023A>G c.3193A>G (p.Ile1065Val) n.11224A>G c.*10862A>G (n.*10862A>G) c.13558A>G (p.Ile4520Val) c.13555A>G (p.Ile4519Val) c.13393A>G (p.Ile4465Val) c.13486A>G (p.Ile4496Val) c.13390A>G (p.Ile4464Val) c.13510A>G (p.Ile4504Val) c.13438A>G (p.Ile4480Val) c.13405A>G (p.Ile4469Val) c.13321A>G (p.Ile4441Val) c.12643A>G (p.Ile4215Val) c.11104A>G (p.Ile3702Val) c.13525A>G (p.Ile4509Val) c.13507A>G (p.Ile4503Val) c.13483A>G (p.Ile4495Val) c.13411A>G (p.Ile4471Val) c.13375A>G (p.Ile4459Val) c.10228A>G (p.Ile3410Val) c.9832A>G (p.Ile3278Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.152148585T>G | CA370091476 | KMT2C | c.1530A>C n.2474A>C c.13513A>C (p.Ile4505Leu) n.2642A>C n.8534A>C c.3915A>C c.10852A>C (p.Ile3618Leu) n.4972A>C c.3987A>C n.2108A>C n.2058A>C c.1759A>C (p.Ile587Leu) c.8239A>C (p.Ile2747Leu) n.100A>C c.13342A>C (p.Ile4448Leu) c.9129A>C c.3984A>C c.3918A>C n.8053A>C c.8242A>C (p.Ile2748Leu) c.12907A>C (p.Ile4303Leu) c.3919A>C n.2357A>C c.6023A>C c.3193A>C (p.Ile1065Leu) n.11224A>C c.*10862A>C (n.*10862A>C) c.13558A>C (p.Ile4520Leu) c.13555A>C (p.Ile4519Leu) c.13393A>C (p.Ile4465Leu) c.13486A>C (p.Ile4496Leu) c.13390A>C (p.Ile4464Leu) c.13510A>C (p.Ile4504Leu) c.13438A>C (p.Ile4480Leu) c.13405A>C (p.Ile4469Leu) c.13321A>C (p.Ile4441Leu) c.12643A>C (p.Ile4215Leu) c.11104A>C (p.Ile3702Leu) c.13525A>C (p.Ile4509Leu) c.13507A>C (p.Ile4503Leu) c.13483A>C (p.Ile4495Leu) c.13411A>C (p.Ile4471Leu) c.13375A>C (p.Ile4459Leu) c.10228A>C (p.Ile3410Leu) c.9832A>C (p.Ile3278Leu) | |
7 | g.152148585T= | CA1752985993 | KMT2C | c.1530A= n.2474A= c.13513A= (p.Ile4505=) n.2642A= n.8534A= c.3915A= c.10852A= (p.Ile3618=) n.4972A= c.3987A= n.2108A= n.2058A= c.1759A= (p.Ile587=) c.8239A= (p.Ile2747=) n.100A= c.13342A= (p.Ile4448=) c.9129A= c.3984A= c.3918A= n.8053A= c.8242A= (p.Ile2748=) c.12907A= (p.Ile4303=) c.3919A= n.2357A= c.6023A= c.3193A= (p.Ile1065=) n.11224A= c.*10862A= (n.*10862A=) c.13558A= (p.Ile4520=) c.13555A= (p.Ile4519=) c.13393A= (p.Ile4465=) c.13486A= (p.Ile4496=) c.13390A= (p.Ile4464=) c.13510A= (p.Ile4504=) c.13438A= (p.Ile4480=) c.13405A= (p.Ile4469=) c.13321A= (p.Ile4441=) c.12643A= (p.Ile4215=) c.11104A= (p.Ile3702=) c.13525A= (p.Ile4509=) c.13507A= (p.Ile4503=) c.13483A= (p.Ile4495=) c.13411A= (p.Ile4471=) c.13375A= (p.Ile4459=) c.10228A= (p.Ile3410=) c.9832A= (p.Ile3278=) | |
7 | g.152148586T>A | CA370091478 | KMT2C | c.1529A>T n.2473A>T c.13512A>T (p.Leu4504Phe) n.2641A>T n.8533A>T c.3914A>T c.10851A>T (p.Leu3617Phe) n.4971A>T c.3986A>T n.2107A>T n.2057A>T c.1758A>T (p.Leu586Phe) c.8238A>T (p.Leu2746Phe) n.99A>T c.13341A>T (p.Leu4447Phe) c.9128A>T c.3983A>T c.3917A>T n.8052A>T c.8241A>T (p.Leu2747Phe) c.12906A>T (p.Leu4302Phe) c.3918A>T n.2356A>T c.6022A>T c.3192A>T (p.Leu1064Phe) n.11223A>T c.*10861A>T (n.*10861A>T) c.13557A>T (p.Leu4519Phe) c.13554A>T (p.Leu4518Phe) c.13392A>T (p.Leu4464Phe) c.13485A>T (p.Leu4495Phe) c.13389A>T (p.Leu4463Phe) c.13509A>T (p.Leu4503Phe) c.13437A>T (p.Leu4479Phe) c.13404A>T (p.Leu4468Phe) c.13320A>T (p.Leu4440Phe) c.12642A>T (p.Leu4214Phe) c.11103A>T (p.Leu3701Phe) c.13524A>T (p.Leu4508Phe) c.13506A>T (p.Leu4502Phe) c.13482A>T (p.Leu4494Phe) c.13410A>T (p.Leu4470Phe) c.13374A>T (p.Leu4458Phe) c.10227A>T (p.Leu3409Phe) c.9831A>T (p.Leu3277Phe) | |
7 | g.152148586T>C | CA458884748 | KMT2C | c.1529A>G n.2473A>G c.13512A>G (p.Leu4504=) n.2641A>G n.8533A>G c.3914A>G c.10851A>G (p.Leu3617=) n.4971A>G c.3986A>G n.2107A>G n.2057A>G c.1758A>G (p.Leu586=) c.8238A>G (p.Leu2746=) n.99A>G c.13341A>G (p.Leu4447=) c.9128A>G c.3983A>G c.3917A>G n.8052A>G c.8241A>G (p.Leu2747=) c.12906A>G (p.Leu4302=) c.3918A>G n.2356A>G c.6022A>G c.3192A>G (p.Leu1064=) n.11223A>G c.*10861A>G (n.*10861A>G) c.13557A>G (p.Leu4519=) c.13554A>G (p.Leu4518=) c.13392A>G (p.Leu4464=) c.13485A>G (p.Leu4495=) c.13389A>G (p.Leu4463=) c.13509A>G (p.Leu4503=) c.13437A>G (p.Leu4479=) c.13404A>G (p.Leu4468=) c.13320A>G (p.Leu4440=) c.12642A>G (p.Leu4214=) c.11103A>G (p.Leu3701=) c.13524A>G (p.Leu4508=) c.13506A>G (p.Leu4502=) c.13482A>G (p.Leu4494=) c.13410A>G (p.Leu4470=) c.13374A>G (p.Leu4458=) c.10227A>G (p.Leu3409=) c.9831A>G (p.Leu3277=) | |
7 | g.152148586T>G | CA370091480 | KMT2C | c.1529A>C n.2473A>C c.13512A>C (p.Leu4504Phe) n.2641A>C n.8533A>C c.3914A>C c.10851A>C (p.Leu3617Phe) n.4971A>C c.3986A>C n.2107A>C n.2057A>C c.1758A>C (p.Leu586Phe) c.8238A>C (p.Leu2746Phe) n.99A>C c.13341A>C (p.Leu4447Phe) c.9128A>C c.3983A>C c.3917A>C n.8052A>C c.8241A>C (p.Leu2747Phe) c.12906A>C (p.Leu4302Phe) c.3918A>C n.2356A>C c.6022A>C c.3192A>C (p.Leu1064Phe) n.11223A>C c.*10861A>C (n.*10861A>C) c.13557A>C (p.Leu4519Phe) c.13554A>C (p.Leu4518Phe) c.13392A>C (p.Leu4464Phe) c.13485A>C (p.Leu4495Phe) c.13389A>C (p.Leu4463Phe) c.13509A>C (p.Leu4503Phe) c.13437A>C (p.Leu4479Phe) c.13404A>C (p.Leu4468Phe) c.13320A>C (p.Leu4440Phe) c.12642A>C (p.Leu4214Phe) c.11103A>C (p.Leu3701Phe) c.13524A>C (p.Leu4508Phe) c.13506A>C (p.Leu4502Phe) c.13482A>C (p.Leu4494Phe) c.13410A>C (p.Leu4470Phe) c.13374A>C (p.Leu4458Phe) c.10227A>C (p.Leu3409Phe) c.9831A>C (p.Leu3277Phe) | |
7 | g.152148587A>C | CA370091485 | KMT2C | c.1528T>G n.2472T>G c.13511T>G (p.Leu4504Ter) n.2640T>G n.8532T>G c.3913T>G c.10850T>G (p.Leu3617Ter) n.4970T>G c.3985T>G n.2106T>G n.2056T>G c.1757T>G (p.Leu586Ter) c.8237T>G (p.Leu2746Ter) n.98T>G c.13340T>G (p.Leu4447Ter) c.9127T>G c.3982T>G c.3916T>G n.8051T>G c.8240T>G (p.Leu2747Ter) c.12905T>G (p.Leu4302Ter) c.3917T>G n.2355T>G c.6021T>G c.3191T>G (p.Leu1064Ter) n.11222T>G c.*10860T>G (n.*10860T>G) c.13556T>G (p.Leu4519Ter) c.13553T>G (p.Leu4518Ter) c.13391T>G (p.Leu4464Ter) c.13484T>G (p.Leu4495Ter) c.13388T>G (p.Leu4463Ter) c.13508T>G (p.Leu4503Ter) c.13436T>G (p.Leu4479Ter) c.13403T>G (p.Leu4468Ter) c.13319T>G (p.Leu4440Ter) c.12641T>G (p.Leu4214Ter) c.11102T>G (p.Leu3701Ter) c.13523T>G (p.Leu4508Ter) c.13505T>G (p.Leu4502Ter) c.13481T>G (p.Leu4494Ter) c.13409T>G (p.Leu4470Ter) c.13373T>G (p.Leu4458Ter) c.10226T>G (p.Leu3409Ter) c.9830T>G (p.Leu3277Ter) | |
7 | g.152148587A>G | CA370091483 | KMT2C | c.1528T>C n.2472T>C c.13511T>C (p.Leu4504Ser) n.2640T>C n.8532T>C c.3913T>C c.10850T>C (p.Leu3617Ser) n.4970T>C c.3985T>C n.2106T>C n.2056T>C c.1757T>C (p.Leu586Ser) c.8237T>C (p.Leu2746Ser) n.98T>C c.13340T>C (p.Leu4447Ser) c.9127T>C c.3982T>C c.3916T>C n.8051T>C c.8240T>C (p.Leu2747Ser) c.12905T>C (p.Leu4302Ser) c.3917T>C n.2355T>C c.6021T>C c.3191T>C (p.Leu1064Ser) n.11222T>C c.*10860T>C (n.*10860T>C) c.13556T>C (p.Leu4519Ser) c.13553T>C (p.Leu4518Ser) c.13391T>C (p.Leu4464Ser) c.13484T>C (p.Leu4495Ser) c.13388T>C (p.Leu4463Ser) c.13508T>C (p.Leu4503Ser) c.13436T>C (p.Leu4479Ser) c.13403T>C (p.Leu4468Ser) c.13319T>C (p.Leu4440Ser) c.12641T>C (p.Leu4214Ser) c.11102T>C (p.Leu3701Ser) c.13523T>C (p.Leu4508Ser) c.13505T>C (p.Leu4502Ser) c.13481T>C (p.Leu4494Ser) c.13409T>C (p.Leu4470Ser) c.13373T>C (p.Leu4458Ser) c.10226T>C (p.Leu3409Ser) c.9830T>C (p.Leu3277Ser) | |
7 | g.152148587A>T | CA370091482 | KMT2C | c.1528T>A n.2472T>A c.13511T>A (p.Leu4504Ter) n.2640T>A n.8532T>A c.3913T>A c.10850T>A (p.Leu3617Ter) n.4970T>A c.3985T>A n.2106T>A n.2056T>A c.1757T>A (p.Leu586Ter) c.8237T>A (p.Leu2746Ter) n.98T>A c.13340T>A (p.Leu4447Ter) c.9127T>A c.3982T>A c.3916T>A n.8051T>A c.8240T>A (p.Leu2747Ter) c.12905T>A (p.Leu4302Ter) c.3917T>A n.2355T>A c.6021T>A c.3191T>A (p.Leu1064Ter) n.11222T>A c.*10860T>A (n.*10860T>A) c.13556T>A (p.Leu4519Ter) c.13553T>A (p.Leu4518Ter) c.13391T>A (p.Leu4464Ter) c.13484T>A (p.Leu4495Ter) c.13388T>A (p.Leu4463Ter) c.13508T>A (p.Leu4503Ter) c.13436T>A (p.Leu4479Ter) c.13403T>A (p.Leu4468Ter) c.13319T>A (p.Leu4440Ter) c.12641T>A (p.Leu4214Ter) c.11102T>A (p.Leu3701Ter) c.13523T>A (p.Leu4508Ter) c.13505T>A (p.Leu4502Ter) c.13481T>A (p.Leu4494Ter) c.13409T>A (p.Leu4470Ter) c.13373T>A (p.Leu4458Ter) c.10226T>A (p.Leu3409Ter) c.9830T>A (p.Leu3277Ter) | |
7 | g.152148588A>C | CA370091487 | KMT2C | c.1527T>G n.2471T>G c.13510T>G (p.Leu4504Val) n.2639T>G n.8531T>G c.3912T>G c.10849T>G (p.Leu3617Val) n.4969T>G c.3984T>G n.2105T>G n.2055T>G c.1756T>G (p.Leu586Val) c.8236T>G (p.Leu2746Val) n.97T>G c.13339T>G (p.Leu4447Val) c.9126T>G c.3981T>G c.3915T>G n.8050T>G c.8239T>G (p.Leu2747Val) c.12904T>G (p.Leu4302Val) c.3916T>G n.2354T>G c.6020T>G c.3190T>G (p.Leu1064Val) n.11221T>G c.*10859T>G (n.*10859T>G) c.13555T>G (p.Leu4519Val) c.13552T>G (p.Leu4518Val) c.13390T>G (p.Leu4464Val) c.13483T>G (p.Leu4495Val) c.13387T>G (p.Leu4463Val) c.13507T>G (p.Leu4503Val) c.13435T>G (p.Leu4479Val) c.13402T>G (p.Leu4468Val) c.13318T>G (p.Leu4440Val) c.12640T>G (p.Leu4214Val) c.11101T>G (p.Leu3701Val) c.13522T>G (p.Leu4508Val) c.13504T>G (p.Leu4502Val) c.13480T>G (p.Leu4494Val) c.13408T>G (p.Leu4470Val) c.13372T>G (p.Leu4458Val) c.10225T>G (p.Leu3409Val) c.9829T>G (p.Leu3277Val) | |
7 | g.152148588A>G | CA458884752 | KMT2C | c.1527T>C n.2471T>C c.13510T>C (p.Leu4504=) n.2639T>C n.8531T>C c.3912T>C c.10849T>C (p.Leu3617=) n.4969T>C c.3984T>C n.2105T>C n.2055T>C c.1756T>C (p.Leu586=) c.8236T>C (p.Leu2746=) n.97T>C c.13339T>C (p.Leu4447=) c.9126T>C c.3981T>C c.3915T>C n.8050T>C c.8239T>C (p.Leu2747=) c.12904T>C (p.Leu4302=) c.3916T>C n.2354T>C c.6020T>C c.3190T>C (p.Leu1064=) n.11221T>C c.*10859T>C (n.*10859T>C) c.13555T>C (p.Leu4519=) c.13552T>C (p.Leu4518=) c.13390T>C (p.Leu4464=) c.13483T>C (p.Leu4495=) c.13387T>C (p.Leu4463=) c.13507T>C (p.Leu4503=) c.13435T>C (p.Leu4479=) c.13402T>C (p.Leu4468=) c.13318T>C (p.Leu4440=) c.12640T>C (p.Leu4214=) c.11101T>C (p.Leu3701=) c.13522T>C (p.Leu4508=) c.13504T>C (p.Leu4502=) c.13480T>C (p.Leu4494=) c.13408T>C (p.Leu4470=) c.13372T>C (p.Leu4458=) c.10225T>C (p.Leu3409=) c.9829T>C (p.Leu3277=) | |
7 | g.152148588A>T | CA370091488 | KMT2C | c.1527T>A n.2471T>A c.13510T>A (p.Leu4504Ile) n.2639T>A n.8531T>A c.3912T>A c.10849T>A (p.Leu3617Ile) n.4969T>A c.3984T>A n.2105T>A n.2055T>A c.1756T>A (p.Leu586Ile) c.8236T>A (p.Leu2746Ile) n.97T>A c.13339T>A (p.Leu4447Ile) c.9126T>A c.3981T>A c.3915T>A n.8050T>A c.8239T>A (p.Leu2747Ile) c.12904T>A (p.Leu4302Ile) c.3916T>A n.2354T>A c.6020T>A c.3190T>A (p.Leu1064Ile) n.11221T>A c.*10859T>A (n.*10859T>A) c.13555T>A (p.Leu4519Ile) c.13552T>A (p.Leu4518Ile) c.13390T>A (p.Leu4464Ile) c.13483T>A (p.Leu4495Ile) c.13387T>A (p.Leu4463Ile) c.13507T>A (p.Leu4503Ile) c.13435T>A (p.Leu4479Ile) c.13402T>A (p.Leu4468Ile) c.13318T>A (p.Leu4440Ile) c.12640T>A (p.Leu4214Ile) c.11101T>A (p.Leu3701Ile) c.13522T>A (p.Leu4508Ile) c.13504T>A (p.Leu4502Ile) c.13480T>A (p.Leu4494Ile) c.13408T>A (p.Leu4470Ile) c.13372T>A (p.Leu4458Ile) c.10225T>A (p.Leu3409Ile) c.9829T>A (p.Leu3277Ile) | dbSNP |
7 | g.152148589G>A | CA458884755 | KMT2C | c.1526C>T n.2470C>T c.13509C>T (p.Ala4503=) n.2638C>T n.8530C>T c.3911C>T c.10848C>T (p.Ala3616=) n.4968C>T c.3983C>T n.2104C>T n.2054C>T c.1755C>T (p.Ala585=) c.8235C>T (p.Ala2745=) n.96C>T c.13338C>T (p.Ala4446=) c.9125C>T c.3980C>T c.3914C>T n.8049C>T c.8238C>T (p.Ala2746=) c.12903C>T (p.Ala4301=) c.3915C>T n.2353C>T c.6019C>T c.3189C>T (p.Ala1063=) n.11220C>T c.*10858C>T (n.*10858C>T) c.13554C>T (p.Ala4518=) c.13551C>T (p.Ala4517=) c.13389C>T (p.Ala4463=) c.13482C>T (p.Ala4494=) c.13386C>T (p.Ala4462=) c.13506C>T (p.Ala4502=) c.13434C>T (p.Ala4478=) c.13401C>T (p.Ala4467=) c.13317C>T (p.Ala4439=) c.12639C>T (p.Ala4213=) c.11100C>T (p.Ala3700=) c.13521C>T (p.Ala4507=) c.13503C>T (p.Ala4501=) c.13479C>T (p.Ala4493=) c.13407C>T (p.Ala4469=) c.13371C>T (p.Ala4457=) c.10224C>T (p.Ala3408=) c.9828C>T (p.Ala3276=) | |
7 | g.152148589G>C | CA458884759 | KMT2C | c.1526C>G n.2470C>G c.13509C>G (p.Ala4503=) n.2638C>G n.8530C>G c.3911C>G c.10848C>G (p.Ala3616=) n.4968C>G c.3983C>G n.2104C>G n.2054C>G c.1755C>G (p.Ala585=) c.8235C>G (p.Ala2745=) n.96C>G c.13338C>G (p.Ala4446=) c.9125C>G c.3980C>G c.3914C>G n.8049C>G c.8238C>G (p.Ala2746=) c.12903C>G (p.Ala4301=) c.3915C>G n.2353C>G c.6019C>G c.3189C>G (p.Ala1063=) n.11220C>G c.*10858C>G (n.*10858C>G) c.13554C>G (p.Ala4518=) c.13551C>G (p.Ala4517=) c.13389C>G (p.Ala4463=) c.13482C>G (p.Ala4494=) c.13386C>G (p.Ala4462=) c.13506C>G (p.Ala4502=) c.13434C>G (p.Ala4478=) c.13401C>G (p.Ala4467=) c.13317C>G (p.Ala4439=) c.12639C>G (p.Ala4213=) c.11100C>G (p.Ala3700=) c.13521C>G (p.Ala4507=) c.13503C>G (p.Ala4501=) c.13479C>G (p.Ala4493=) c.13407C>G (p.Ala4469=) c.13371C>G (p.Ala4457=) c.10224C>G (p.Ala3408=) c.9828C>G (p.Ala3276=) | |
7 | g.152148589G>T | CA458884756 | KMT2C | c.1526C>A n.2470C>A c.13509C>A (p.Ala4503=) n.2638C>A n.8530C>A c.3911C>A c.10848C>A (p.Ala3616=) n.4968C>A c.3983C>A n.2104C>A n.2054C>A c.1755C>A (p.Ala585=) c.8235C>A (p.Ala2745=) n.96C>A c.13338C>A (p.Ala4446=) c.9125C>A c.3980C>A c.3914C>A n.8049C>A c.8238C>A (p.Ala2746=) c.12903C>A (p.Ala4301=) c.3915C>A n.2353C>A c.6019C>A c.3189C>A (p.Ala1063=) n.11220C>A c.*10858C>A (n.*10858C>A) c.13554C>A (p.Ala4518=) c.13551C>A (p.Ala4517=) c.13389C>A (p.Ala4463=) c.13482C>A (p.Ala4494=) c.13386C>A (p.Ala4462=) c.13506C>A (p.Ala4502=) c.13434C>A (p.Ala4478=) c.13401C>A (p.Ala4467=) c.13317C>A (p.Ala4439=) c.12639C>A (p.Ala4213=) c.11100C>A (p.Ala3700=) c.13521C>A (p.Ala4507=) c.13503C>A (p.Ala4501=) c.13479C>A (p.Ala4493=) c.13407C>A (p.Ala4469=) c.13371C>A (p.Ala4457=) c.10224C>A (p.Ala3408=) c.9828C>A (p.Ala3276=) | |
7 | g.152148590G>A | CA370091490 | KMT2C | c.1525C>T n.2469C>T c.13508C>T (p.Ala4503Val) n.2637C>T n.8529C>T c.3910C>T c.10847C>T (p.Ala3616Val) n.4967C>T c.3982C>T n.2103C>T n.2053C>T c.1754C>T (p.Ala585Val) c.8234C>T (p.Ala2745Val) n.95C>T c.13337C>T (p.Ala4446Val) c.9124C>T c.3979C>T c.3913C>T n.8048C>T c.8237C>T (p.Ala2746Val) c.12902C>T (p.Ala4301Val) c.3914C>T n.2352C>T c.6018C>T c.3188C>T (p.Ala1063Val) n.11219C>T c.*10857C>T (n.*10857C>T) c.13553C>T (p.Ala4518Val) c.13550C>T (p.Ala4517Val) c.13388C>T (p.Ala4463Val) c.13481C>T (p.Ala4494Val) c.13385C>T (p.Ala4462Val) c.13505C>T (p.Ala4502Val) c.13433C>T (p.Ala4478Val) c.13400C>T (p.Ala4467Val) c.13316C>T (p.Ala4439Val) c.12638C>T (p.Ala4213Val) c.11099C>T (p.Ala3700Val) c.13520C>T (p.Ala4507Val) c.13502C>T (p.Ala4501Val) c.13478C>T (p.Ala4493Val) c.13406C>T (p.Ala4469Val) c.13370C>T (p.Ala4457Val) c.10223C>T (p.Ala3408Val) c.9827C>T (p.Ala3276Val) | dbSNP gnomAD v4 COSMIC COSMIC |
7 | g.152148590G>C | CA4578641 | KMT2C | c.1525C>G n.2469C>G c.13508C>G (p.Ala4503Gly) n.2637C>G n.8529C>G c.3910C>G c.10847C>G (p.Ala3616Gly) n.4967C>G c.3982C>G n.2103C>G n.2053C>G c.1754C>G (p.Ala585Gly) c.8234C>G (p.Ala2745Gly) n.95C>G c.13337C>G (p.Ala4446Gly) c.9124C>G c.3979C>G c.3913C>G n.8048C>G c.8237C>G (p.Ala2746Gly) c.12902C>G (p.Ala4301Gly) c.3914C>G n.2352C>G c.6018C>G c.3188C>G (p.Ala1063Gly) n.11219C>G c.*10857C>G (n.*10857C>G) c.13553C>G (p.Ala4518Gly) c.13550C>G (p.Ala4517Gly) c.13388C>G (p.Ala4463Gly) c.13481C>G (p.Ala4494Gly) c.13385C>G (p.Ala4462Gly) c.13505C>G (p.Ala4502Gly) c.13433C>G (p.Ala4478Gly) c.13400C>G (p.Ala4467Gly) c.13316C>G (p.Ala4439Gly) c.12638C>G (p.Ala4213Gly) c.11099C>G (p.Ala3700Gly) c.13520C>G (p.Ala4507Gly) c.13502C>G (p.Ala4501Gly) c.13478C>G (p.Ala4493Gly) c.13406C>G (p.Ala4469Gly) c.13370C>G (p.Ala4457Gly) c.10223C>G (p.Ala3408Gly) c.9827C>G (p.Ala3276Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.152148590G= | CA1752985997 | KMT2C | c.1525C= n.2469C= c.13508C= (p.Ala4503=) n.2637C= n.8529C= c.3910C= c.10847C= (p.Ala3616=) n.4967C= c.3982C= n.2103C= n.2053C= c.1754C= (p.Ala585=) c.8234C= (p.Ala2745=) n.95C= c.13337C= (p.Ala4446=) c.9124C= c.3979C= c.3913C= n.8048C= c.8237C= (p.Ala2746=) c.12902C= (p.Ala4301=) c.3914C= n.2352C= c.6018C= c.3188C= (p.Ala1063=) n.11219C= c.*10857C= (n.*10857C=) c.13553C= (p.Ala4518=) c.13550C= (p.Ala4517=) c.13388C= (p.Ala4463=) c.13481C= (p.Ala4494=) c.13385C= (p.Ala4462=) c.13505C= (p.Ala4502=) c.13433C= (p.Ala4478=) c.13400C= (p.Ala4467=) c.13316C= (p.Ala4439=) c.12638C= (p.Ala4213=) c.11099C= (p.Ala3700=) c.13520C= (p.Ala4507=) c.13502C= (p.Ala4501=) c.13478C= (p.Ala4493=) c.13406C= (p.Ala4469=) c.13370C= (p.Ala4457=) c.10223C= (p.Ala3408=) c.9827C= (p.Ala3276=) | |
7 | g.152148590G>T | CA370091492 | KMT2C | c.1525C>A n.2469C>A c.13508C>A (p.Ala4503Asp) n.2637C>A n.8529C>A c.3910C>A c.10847C>A (p.Ala3616Asp) n.4967C>A c.3982C>A n.2103C>A n.2053C>A c.1754C>A (p.Ala585Asp) c.8234C>A (p.Ala2745Asp) n.95C>A c.13337C>A (p.Ala4446Asp) c.9124C>A c.3979C>A c.3913C>A n.8048C>A c.8237C>A (p.Ala2746Asp) c.12902C>A (p.Ala4301Asp) c.3914C>A n.2352C>A c.6018C>A c.3188C>A (p.Ala1063Asp) n.11219C>A c.*10857C>A (n.*10857C>A) c.13553C>A (p.Ala4518Asp) c.13550C>A (p.Ala4517Asp) c.13388C>A (p.Ala4463Asp) c.13481C>A (p.Ala4494Asp) c.13385C>A (p.Ala4462Asp) c.13505C>A (p.Ala4502Asp) c.13433C>A (p.Ala4478Asp) c.13400C>A (p.Ala4467Asp) c.13316C>A (p.Ala4439Asp) c.12638C>A (p.Ala4213Asp) c.11099C>A (p.Ala3700Asp) c.13520C>A (p.Ala4507Asp) c.13502C>A (p.Ala4501Asp) c.13478C>A (p.Ala4493Asp) c.13406C>A (p.Ala4469Asp) c.13370C>A (p.Ala4457Asp) c.10223C>A (p.Ala3408Asp) c.9827C>A (p.Ala3276Asp) | |
7 | g.152148591C>A | CA370091495 | KMT2C | c.1524G>T n.2468G>T c.13507G>T (p.Ala4503Ser) n.2636G>T n.8528G>T c.3909G>T c.10846G>T (p.Ala3616Ser) n.4966G>T c.3981G>T n.2102G>T n.2052G>T c.1753G>T (p.Ala585Ser) c.8233G>T (p.Ala2745Ser) n.94G>T c.13336G>T (p.Ala4446Ser) c.9123G>T c.3978G>T c.3912G>T n.8047G>T c.8236G>T (p.Ala2746Ser) c.12901G>T (p.Ala4301Ser) c.3913G>T n.2351G>T c.6017G>T c.3187G>T (p.Ala1063Ser) n.11218G>T c.*10856G>T (n.*10856G>T) c.13552G>T (p.Ala4518Ser) c.13549G>T (p.Ala4517Ser) c.13387G>T (p.Ala4463Ser) c.13480G>T (p.Ala4494Ser) c.13384G>T (p.Ala4462Ser) c.13504G>T (p.Ala4502Ser) c.13432G>T (p.Ala4478Ser) c.13399G>T (p.Ala4467Ser) c.13315G>T (p.Ala4439Ser) c.12637G>T (p.Ala4213Ser) c.11098G>T (p.Ala3700Ser) c.13519G>T (p.Ala4507Ser) c.13501G>T (p.Ala4501Ser) c.13477G>T (p.Ala4493Ser) c.13405G>T (p.Ala4469Ser) c.13369G>T (p.Ala4457Ser) c.10222G>T (p.Ala3408Ser) c.9826G>T (p.Ala3276Ser) | dbSNP |
7 | g.152148591C= | CA1752986002 | KMT2C | c.1524G= n.2468G= c.13507G= (p.Ala4503=) n.2636G= n.8528G= c.3909G= c.10846G= (p.Ala3616=) n.4966G= c.3981G= n.2102G= n.2052G= c.1753G= (p.Ala585=) c.8233G= (p.Ala2745=) n.94G= c.13336G= (p.Ala4446=) c.9123G= c.3978G= c.3912G= n.8047G= c.8236G= (p.Ala2746=) c.12901G= (p.Ala4301=) c.3913G= n.2351G= c.6017G= c.3187G= (p.Ala1063=) n.11218G= c.*10856G= (n.*10856G=) c.13552G= (p.Ala4518=) c.13549G= (p.Ala4517=) c.13387G= (p.Ala4463=) c.13480G= (p.Ala4494=) c.13384G= (p.Ala4462=) c.13504G= (p.Ala4502=) c.13432G= (p.Ala4478=) c.13399G= (p.Ala4467=) c.13315G= (p.Ala4439=) c.12637G= (p.Ala4213=) c.11098G= (p.Ala3700=) c.13519G= (p.Ala4507=) c.13501G= (p.Ala4501=) c.13477G= (p.Ala4493=) c.13405G= (p.Ala4469=) c.13369G= (p.Ala4457=) c.10222G= (p.Ala3408=) c.9826G= (p.Ala3276=) | |
7 | g.152148591C>G | CA370091494 | KMT2C | c.1524G>C n.2468G>C c.13507G>C (p.Ala4503Pro) n.2636G>C n.8528G>C c.3909G>C c.10846G>C (p.Ala3616Pro) n.4966G>C c.3981G>C n.2102G>C n.2052G>C c.1753G>C (p.Ala585Pro) c.8233G>C (p.Ala2745Pro) n.94G>C c.13336G>C (p.Ala4446Pro) c.9123G>C c.3978G>C c.3912G>C n.8047G>C c.8236G>C (p.Ala2746Pro) c.12901G>C (p.Ala4301Pro) c.3913G>C n.2351G>C c.6017G>C c.3187G>C (p.Ala1063Pro) n.11218G>C c.*10856G>C (n.*10856G>C) c.13552G>C (p.Ala4518Pro) c.13549G>C (p.Ala4517Pro) c.13387G>C (p.Ala4463Pro) c.13480G>C (p.Ala4494Pro) c.13384G>C (p.Ala4462Pro) c.13504G>C (p.Ala4502Pro) c.13432G>C (p.Ala4478Pro) c.13399G>C (p.Ala4467Pro) c.13315G>C (p.Ala4439Pro) c.12637G>C (p.Ala4213Pro) c.11098G>C (p.Ala3700Pro) c.13519G>C (p.Ala4507Pro) c.13501G>C (p.Ala4501Pro) c.13477G>C (p.Ala4493Pro) c.13405G>C (p.Ala4469Pro) c.13369G>C (p.Ala4457Pro) c.10222G>C (p.Ala3408Pro) c.9826G>C (p.Ala3276Pro) | |
7 | g.152148591C>T | CA370091493 | KMT2C | c.1524G>A n.2468G>A c.13507G>A (p.Ala4503Thr) n.2636G>A n.8528G>A c.3909G>A c.10846G>A (p.Ala3616Thr) n.4966G>A c.3981G>A n.2102G>A n.2052G>A c.1753G>A (p.Ala585Thr) c.8233G>A (p.Ala2745Thr) n.94G>A c.13336G>A (p.Ala4446Thr) c.9123G>A c.3978G>A c.3912G>A n.8047G>A c.8236G>A (p.Ala2746Thr) c.12901G>A (p.Ala4301Thr) c.3913G>A n.2351G>A c.6017G>A c.3187G>A (p.Ala1063Thr) n.11218G>A c.*10856G>A (n.*10856G>A) c.13552G>A (p.Ala4518Thr) c.13549G>A (p.Ala4517Thr) c.13387G>A (p.Ala4463Thr) c.13480G>A (p.Ala4494Thr) c.13384G>A (p.Ala4462Thr) c.13504G>A (p.Ala4502Thr) c.13432G>A (p.Ala4478Thr) c.13399G>A (p.Ala4467Thr) c.13315G>A (p.Ala4439Thr) c.12637G>A (p.Ala4213Thr) c.11098G>A (p.Ala3700Thr) c.13519G>A (p.Ala4507Thr) c.13501G>A (p.Ala4501Thr) c.13477G>A (p.Ala4493Thr) c.13405G>A (p.Ala4469Thr) c.13369G>A (p.Ala4457Thr) c.10222G>A (p.Ala3408Thr) c.9826G>A (p.Ala3276Thr) | COSMIC COSMIC |
7 | g.152148592A>C | CA458884763 | KMT2C | c.1523T>G n.2467T>G c.13506T>G (p.Gly4502=) n.2635T>G n.8527T>G c.3908T>G c.10845T>G (p.Gly3615=) n.4965T>G c.3980T>G n.2101T>G n.2051T>G c.1752T>G (p.Gly584=) c.8232T>G (p.Gly2744=) n.93T>G c.13335T>G (p.Gly4445=) c.9122T>G c.3977T>G c.3911T>G n.8046T>G c.8235T>G (p.Gly2745=) c.12900T>G (p.Gly4300=) c.3912T>G n.2350T>G c.6016T>G c.3186T>G (p.Gly1062=) n.11217T>G c.*10855T>G (n.*10855T>G) c.13551T>G (p.Gly4517=) c.13548T>G (p.Gly4516=) c.13386T>G (p.Gly4462=) c.13479T>G (p.Gly4493=) c.13383T>G (p.Gly4461=) c.13503T>G (p.Gly4501=) c.13431T>G (p.Gly4477=) c.13398T>G (p.Gly4466=) c.13314T>G (p.Gly4438=) c.12636T>G (p.Gly4212=) c.11097T>G (p.Gly3699=) c.13518T>G (p.Gly4506=) c.13500T>G (p.Gly4500=) c.13476T>G (p.Gly4492=) c.13404T>G (p.Gly4468=) c.13368T>G (p.Gly4456=) c.10221T>G (p.Gly3407=) c.9825T>G (p.Gly3275=) | |
7 | g.152148592A>G | CA458884766 | KMT2C | c.1523T>C n.2467T>C c.13506T>C (p.Gly4502=) n.2635T>C n.8527T>C c.3908T>C c.10845T>C (p.Gly3615=) n.4965T>C c.3980T>C n.2101T>C n.2051T>C c.1752T>C (p.Gly584=) c.8232T>C (p.Gly2744=) n.93T>C c.13335T>C (p.Gly4445=) c.9122T>C c.3977T>C c.3911T>C n.8046T>C c.8235T>C (p.Gly2745=) c.12900T>C (p.Gly4300=) c.3912T>C n.2350T>C c.6016T>C c.3186T>C (p.Gly1062=) n.11217T>C c.*10855T>C (n.*10855T>C) c.13551T>C (p.Gly4517=) c.13548T>C (p.Gly4516=) c.13386T>C (p.Gly4462=) c.13479T>C (p.Gly4493=) c.13383T>C (p.Gly4461=) c.13503T>C (p.Gly4501=) c.13431T>C (p.Gly4477=) c.13398T>C (p.Gly4466=) c.13314T>C (p.Gly4438=) c.12636T>C (p.Gly4212=) c.11097T>C (p.Gly3699=) c.13518T>C (p.Gly4506=) c.13500T>C (p.Gly4500=) c.13476T>C (p.Gly4492=) c.13404T>C (p.Gly4468=) c.13368T>C (p.Gly4456=) c.10221T>C (p.Gly3407=) c.9825T>C (p.Gly3275=) | |
7 | g.152148592A>T | CA458884768 | KMT2C | c.1523T>A n.2467T>A c.13506T>A (p.Gly4502=) n.2635T>A n.8527T>A c.3908T>A c.10845T>A (p.Gly3615=) n.4965T>A c.3980T>A n.2101T>A n.2051T>A c.1752T>A (p.Gly584=) c.8232T>A (p.Gly2744=) n.93T>A c.13335T>A (p.Gly4445=) c.9122T>A c.3977T>A c.3911T>A n.8046T>A c.8235T>A (p.Gly2745=) c.12900T>A (p.Gly4300=) c.3912T>A n.2350T>A c.6016T>A c.3186T>A (p.Gly1062=) n.11217T>A c.*10855T>A (n.*10855T>A) c.13551T>A (p.Gly4517=) c.13548T>A (p.Gly4516=) c.13386T>A (p.Gly4462=) c.13479T>A (p.Gly4493=) c.13383T>A (p.Gly4461=) c.13503T>A (p.Gly4501=) c.13431T>A (p.Gly4477=) c.13398T>A (p.Gly4466=) c.13314T>A (p.Gly4438=) c.12636T>A (p.Gly4212=) c.11097T>A (p.Gly3699=) c.13518T>A (p.Gly4506=) c.13500T>A (p.Gly4500=) c.13476T>A (p.Gly4492=) c.13404T>A (p.Gly4468=) c.13368T>A (p.Gly4456=) c.10221T>A (p.Gly3407=) c.9825T>A (p.Gly3275=) | |
7 | g.152148593C>A | CA370091497 | KMT2C | c.1522G>T n.2466G>T c.13505G>T (p.Gly4502Val) n.2634G>T n.8526G>T c.3907G>T c.10844G>T (p.Gly3615Val) n.4964G>T c.3979G>T n.2100G>T n.2050G>T c.1751G>T (p.Gly584Val) c.8231G>T (p.Gly2744Val) n.92G>T c.13334G>T (p.Gly4445Val) c.9121G>T c.3976G>T c.3910G>T n.8045G>T c.8234G>T (p.Gly2745Val) c.12899G>T (p.Gly4300Val) c.3911G>T n.2349G>T c.6015G>T c.3185G>T (p.Gly1062Val) n.11216G>T c.*10854G>T (n.*10854G>T) c.13550G>T (p.Gly4517Val) c.13547G>T (p.Gly4516Val) c.13385G>T (p.Gly4462Val) c.13478G>T (p.Gly4493Val) c.13382G>T (p.Gly4461Val) c.13502G>T (p.Gly4501Val) c.13430G>T (p.Gly4477Val) c.13397G>T (p.Gly4466Val) c.13313G>T (p.Gly4438Val) c.12635G>T (p.Gly4212Val) c.11096G>T (p.Gly3699Val) c.13517G>T (p.Gly4506Val) c.13499G>T (p.Gly4500Val) c.13475G>T (p.Gly4492Val) c.13403G>T (p.Gly4468Val) c.13367G>T (p.Gly4456Val) c.10220G>T (p.Gly3407Val) c.9824G>T (p.Gly3275Val) | dbSNP |
7 | g.152148593C= | CA1752986008 | KMT2C | c.1522G= n.2466G= c.13505G= (p.Gly4502=) n.2634G= n.8526G= c.3907G= c.10844G= (p.Gly3615=) n.4964G= c.3979G= n.2100G= n.2050G= c.1751G= (p.Gly584=) c.8231G= (p.Gly2744=) n.92G= c.13334G= (p.Gly4445=) c.9121G= c.3976G= c.3910G= n.8045G= c.8234G= (p.Gly2745=) c.12899G= (p.Gly4300=) c.3911G= n.2349G= c.6015G= c.3185G= (p.Gly1062=) n.11216G= c.*10854G= (n.*10854G=) c.13550G= (p.Gly4517=) c.13547G= (p.Gly4516=) c.13385G= (p.Gly4462=) c.13478G= (p.Gly4493=) c.13382G= (p.Gly4461=) c.13502G= (p.Gly4501=) c.13430G= (p.Gly4477=) c.13397G= (p.Gly4466=) c.13313G= (p.Gly4438=) c.12635G= (p.Gly4212=) c.11096G= (p.Gly3699=) c.13517G= (p.Gly4506=) c.13499G= (p.Gly4500=) c.13475G= (p.Gly4492=) c.13403G= (p.Gly4468=) c.13367G= (p.Gly4456=) c.10220G= (p.Gly3407=) c.9824G= (p.Gly3275=) | |
7 | g.152148593C>G | CA370091498 | KMT2C | c.1522G>C n.2466G>C c.13505G>C (p.Gly4502Ala) n.2634G>C n.8526G>C c.3907G>C c.10844G>C (p.Gly3615Ala) n.4964G>C c.3979G>C n.2100G>C n.2050G>C c.1751G>C (p.Gly584Ala) c.8231G>C (p.Gly2744Ala) n.92G>C c.13334G>C (p.Gly4445Ala) c.9121G>C c.3976G>C c.3910G>C n.8045G>C c.8234G>C (p.Gly2745Ala) c.12899G>C (p.Gly4300Ala) c.3911G>C n.2349G>C c.6015G>C c.3185G>C (p.Gly1062Ala) n.11216G>C c.*10854G>C (n.*10854G>C) c.13550G>C (p.Gly4517Ala) c.13547G>C (p.Gly4516Ala) c.13385G>C (p.Gly4462Ala) c.13478G>C (p.Gly4493Ala) c.13382G>C (p.Gly4461Ala) c.13502G>C (p.Gly4501Ala) c.13430G>C (p.Gly4477Ala) c.13397G>C (p.Gly4466Ala) c.13313G>C (p.Gly4438Ala) c.12635G>C (p.Gly4212Ala) c.11096G>C (p.Gly3699Ala) c.13517G>C (p.Gly4506Ala) c.13499G>C (p.Gly4500Ala) c.13475G>C (p.Gly4492Ala) c.13403G>C (p.Gly4468Ala) c.13367G>C (p.Gly4456Ala) c.10220G>C (p.Gly3407Ala) c.9824G>C (p.Gly3275Ala) | |
7 | g.152148593C>T | CA370091499 | KMT2C | c.1522G>A n.2466G>A c.13505G>A (p.Gly4502Asp) n.2634G>A n.8526G>A c.3907G>A c.10844G>A (p.Gly3615Asp) n.4964G>A c.3979G>A n.2100G>A n.2050G>A c.1751G>A (p.Gly584Asp) c.8231G>A (p.Gly2744Asp) n.92G>A c.13334G>A (p.Gly4445Asp) c.9121G>A c.3976G>A c.3910G>A n.8045G>A c.8234G>A (p.Gly2745Asp) c.12899G>A (p.Gly4300Asp) c.3911G>A n.2349G>A c.6015G>A c.3185G>A (p.Gly1062Asp) n.11216G>A c.*10854G>A (n.*10854G>A) c.13550G>A (p.Gly4517Asp) c.13547G>A (p.Gly4516Asp) c.13385G>A (p.Gly4462Asp) c.13478G>A (p.Gly4493Asp) c.13382G>A (p.Gly4461Asp) c.13502G>A (p.Gly4501Asp) c.13430G>A (p.Gly4477Asp) c.13397G>A (p.Gly4466Asp) c.13313G>A (p.Gly4438Asp) c.12635G>A (p.Gly4212Asp) c.11096G>A (p.Gly3699Asp) c.13517G>A (p.Gly4506Asp) c.13499G>A (p.Gly4500Asp) c.13475G>A (p.Gly4492Asp) c.13403G>A (p.Gly4468Asp) c.13367G>A (p.Gly4456Asp) c.10220G>A (p.Gly3407Asp) c.9824G>A (p.Gly3275Asp) | ClinVar dbSNP COSMIC |
7 | g.152148594C>A | CA370091502 | KMT2C | c.1521G>T n.2465G>T c.13504G>T (p.Gly4502Cys) n.2633G>T n.8525G>T c.3906G>T c.10843G>T (p.Gly3615Cys) n.4963G>T c.3978G>T n.2099G>T n.2049G>T c.1750G>T (p.Gly584Cys) c.8230G>T (p.Gly2744Cys) n.91G>T c.13333G>T (p.Gly4445Cys) c.9120G>T c.3975G>T c.3909G>T n.8044G>T c.8233G>T (p.Gly2745Cys) c.12898G>T (p.Gly4300Cys) c.3910G>T n.2348G>T c.6014G>T c.3184G>T (p.Gly1062Cys) n.11215G>T c.*10853G>T (n.*10853G>T) c.13549G>T (p.Gly4517Cys) c.13546G>T (p.Gly4516Cys) c.13384G>T (p.Gly4462Cys) c.13477G>T (p.Gly4493Cys) c.13381G>T (p.Gly4461Cys) c.13501G>T (p.Gly4501Cys) c.13429G>T (p.Gly4477Cys) c.13396G>T (p.Gly4466Cys) c.13312G>T (p.Gly4438Cys) c.12634G>T (p.Gly4212Cys) c.11095G>T (p.Gly3699Cys) c.13516G>T (p.Gly4506Cys) c.13498G>T (p.Gly4500Cys) c.13474G>T (p.Gly4492Cys) c.13402G>T (p.Gly4468Cys) c.13366G>T (p.Gly4456Cys) c.10219G>T (p.Gly3407Cys) c.9823G>T (p.Gly3275Cys) | |
7 | g.152148594C>G | CA370091503 | KMT2C | c.1521G>C n.2465G>C c.13504G>C (p.Gly4502Arg) n.2633G>C n.8525G>C c.3906G>C c.10843G>C (p.Gly3615Arg) n.4963G>C c.3978G>C n.2099G>C n.2049G>C c.1750G>C (p.Gly584Arg) c.8230G>C (p.Gly2744Arg) n.91G>C c.13333G>C (p.Gly4445Arg) c.9120G>C c.3975G>C c.3909G>C n.8044G>C c.8233G>C (p.Gly2745Arg) c.12898G>C (p.Gly4300Arg) c.3910G>C n.2348G>C c.6014G>C c.3184G>C (p.Gly1062Arg) n.11215G>C c.*10853G>C (n.*10853G>C) c.13549G>C (p.Gly4517Arg) c.13546G>C (p.Gly4516Arg) c.13384G>C (p.Gly4462Arg) c.13477G>C (p.Gly4493Arg) c.13381G>C (p.Gly4461Arg) c.13501G>C (p.Gly4501Arg) c.13429G>C (p.Gly4477Arg) c.13396G>C (p.Gly4466Arg) c.13312G>C (p.Gly4438Arg) c.12634G>C (p.Gly4212Arg) c.11095G>C (p.Gly3699Arg) c.13516G>C (p.Gly4506Arg) c.13498G>C (p.Gly4500Arg) c.13474G>C (p.Gly4492Arg) c.13402G>C (p.Gly4468Arg) c.13366G>C (p.Gly4456Arg) c.10219G>C (p.Gly3407Arg) c.9823G>C (p.Gly3275Arg) | |
7 | g.152148594C>T | CA370091505 | KMT2C | c.1521G>A n.2465G>A c.13504G>A (p.Gly4502Ser) n.2633G>A n.8525G>A c.3906G>A c.10843G>A (p.Gly3615Ser) n.4963G>A c.3978G>A n.2099G>A n.2049G>A c.1750G>A (p.Gly584Ser) c.8230G>A (p.Gly2744Ser) n.91G>A c.13333G>A (p.Gly4445Ser) c.9120G>A c.3975G>A c.3909G>A n.8044G>A c.8233G>A (p.Gly2745Ser) c.12898G>A (p.Gly4300Ser) c.3910G>A n.2348G>A c.6014G>A c.3184G>A (p.Gly1062Ser) n.11215G>A c.*10853G>A (n.*10853G>A) c.13549G>A (p.Gly4517Ser) c.13546G>A (p.Gly4516Ser) c.13384G>A (p.Gly4462Ser) c.13477G>A (p.Gly4493Ser) c.13381G>A (p.Gly4461Ser) c.13501G>A (p.Gly4501Ser) c.13429G>A (p.Gly4477Ser) c.13396G>A (p.Gly4466Ser) c.13312G>A (p.Gly4438Ser) c.12634G>A (p.Gly4212Ser) c.11095G>A (p.Gly3699Ser) c.13516G>A (p.Gly4506Ser) c.13498G>A (p.Gly4500Ser) c.13474G>A (p.Gly4492Ser) c.13402G>A (p.Gly4468Ser) c.13366G>A (p.Gly4456Ser) c.10219G>A (p.Gly3407Ser) c.9823G>A (p.Gly3275Ser) | dbSNP |
7 | g.152148595A>C | CA458884774 | KMT2C | c.1520T>G n.2464T>G c.13503T>G (p.Ala4501=) n.2632T>G n.8524T>G c.3905T>G c.10842T>G (p.Ala3614=) n.4962T>G c.3977T>G n.2098T>G n.2048T>G c.1749T>G (p.Ala583=) c.8229T>G (p.Ala2743=) n.90T>G c.13332T>G (p.Ala4444=) c.9119T>G c.3974T>G c.3908T>G n.8043T>G c.8232T>G (p.Ala2744=) c.12897T>G (p.Ala4299=) c.3909T>G n.2347T>G c.6013T>G c.3183T>G (p.Ala1061=) n.11214T>G c.*10852T>G (n.*10852T>G) c.13548T>G (p.Ala4516=) c.13545T>G (p.Ala4515=) c.13383T>G (p.Ala4461=) c.13476T>G (p.Ala4492=) c.13380T>G (p.Ala4460=) c.13500T>G (p.Ala4500=) c.13428T>G (p.Ala4476=) c.13395T>G (p.Ala4465=) c.13311T>G (p.Ala4437=) c.12633T>G (p.Ala4211=) c.11094T>G (p.Ala3698=) c.13515T>G (p.Ala4505=) c.13497T>G (p.Ala4499=) c.13473T>G (p.Ala4491=) c.13401T>G (p.Ala4467=) c.13365T>G (p.Ala4455=) c.10218T>G (p.Ala3406=) c.9822T>G (p.Ala3274=) | |
7 | g.152148595A>G | CA458884772 | KMT2C | c.1520T>C n.2464T>C c.13503T>C (p.Ala4501=) n.2632T>C n.8524T>C c.3905T>C c.10842T>C (p.Ala3614=) n.4962T>C c.3977T>C n.2098T>C n.2048T>C c.1749T>C (p.Ala583=) c.8229T>C (p.Ala2743=) n.90T>C c.13332T>C (p.Ala4444=) c.9119T>C c.3974T>C c.3908T>C n.8043T>C c.8232T>C (p.Ala2744=) c.12897T>C (p.Ala4299=) c.3909T>C n.2347T>C c.6013T>C c.3183T>C (p.Ala1061=) n.11214T>C c.*10852T>C (n.*10852T>C) c.13548T>C (p.Ala4516=) c.13545T>C (p.Ala4515=) c.13383T>C (p.Ala4461=) c.13476T>C (p.Ala4492=) c.13380T>C (p.Ala4460=) c.13500T>C (p.Ala4500=) c.13428T>C (p.Ala4476=) c.13395T>C (p.Ala4465=) c.13311T>C (p.Ala4437=) c.12633T>C (p.Ala4211=) c.11094T>C (p.Ala3698=) c.13515T>C (p.Ala4505=) c.13497T>C (p.Ala4499=) c.13473T>C (p.Ala4491=) c.13401T>C (p.Ala4467=) c.13365T>C (p.Ala4455=) c.10218T>C (p.Ala3406=) c.9822T>C (p.Ala3274=) | |
7 | g.152148595A>T | CA458884773 | KMT2C | c.1520T>A n.2464T>A c.13503T>A (p.Ala4501=) n.2632T>A n.8524T>A c.3905T>A c.10842T>A (p.Ala3614=) n.4962T>A c.3977T>A n.2098T>A n.2048T>A c.1749T>A (p.Ala583=) c.8229T>A (p.Ala2743=) n.90T>A c.13332T>A (p.Ala4444=) c.9119T>A c.3974T>A c.3908T>A n.8043T>A c.8232T>A (p.Ala2744=) c.12897T>A (p.Ala4299=) c.3909T>A n.2347T>A c.6013T>A c.3183T>A (p.Ala1061=) n.11214T>A c.*10852T>A (n.*10852T>A) c.13548T>A (p.Ala4516=) c.13545T>A (p.Ala4515=) c.13383T>A (p.Ala4461=) c.13476T>A (p.Ala4492=) c.13380T>A (p.Ala4460=) c.13500T>A (p.Ala4500=) c.13428T>A (p.Ala4476=) c.13395T>A (p.Ala4465=) c.13311T>A (p.Ala4437=) c.12633T>A (p.Ala4211=) c.11094T>A (p.Ala3698=) c.13515T>A (p.Ala4505=) c.13497T>A (p.Ala4499=) c.13473T>A (p.Ala4491=) c.13401T>A (p.Ala4467=) c.13365T>A (p.Ala4455=) c.10218T>A (p.Ala3406=) c.9822T>A (p.Ala3274=) | |
7 | g.152148596G>A | CA370091506 | KMT2C | c.1519C>T n.2463C>T c.13502C>T (p.Ala4501Val) n.2631C>T n.8523C>T c.3904C>T c.10841C>T (p.Ala3614Val) n.4961C>T c.3976C>T n.2097C>T n.2047C>T c.1748C>T (p.Ala583Val) c.8228C>T (p.Ala2743Val) n.89C>T c.13331C>T (p.Ala4444Val) c.9118C>T c.3973C>T c.3907C>T n.8042C>T c.8231C>T (p.Ala2744Val) c.12896C>T (p.Ala4299Val) c.3908C>T n.2346C>T c.6012C>T c.3182C>T (p.Ala1061Val) n.11213C>T c.*10851C>T (n.*10851C>T) c.13547C>T (p.Ala4516Val) c.13544C>T (p.Ala4515Val) c.13382C>T (p.Ala4461Val) c.13475C>T (p.Ala4492Val) c.13379C>T (p.Ala4460Val) c.13499C>T (p.Ala4500Val) c.13427C>T (p.Ala4476Val) c.13394C>T (p.Ala4465Val) c.13310C>T (p.Ala4437Val) c.12632C>T (p.Ala4211Val) c.11093C>T (p.Ala3698Val) c.13514C>T (p.Ala4505Val) c.13496C>T (p.Ala4499Val) c.13472C>T (p.Ala4491Val) c.13400C>T (p.Ala4467Val) c.13364C>T (p.Ala4455Val) c.10217C>T (p.Ala3406Val) c.9821C>T (p.Ala3274Val) | |
7 | g.152148596G>C | CA370091509 | KMT2C | c.1519C>G n.2463C>G c.13502C>G (p.Ala4501Gly) n.2631C>G n.8523C>G c.3904C>G c.10841C>G (p.Ala3614Gly) n.4961C>G c.3976C>G n.2097C>G n.2047C>G c.1748C>G (p.Ala583Gly) c.8228C>G (p.Ala2743Gly) n.89C>G c.13331C>G (p.Ala4444Gly) c.9118C>G c.3973C>G c.3907C>G n.8042C>G c.8231C>G (p.Ala2744Gly) c.12896C>G (p.Ala4299Gly) c.3908C>G n.2346C>G c.6012C>G c.3182C>G (p.Ala1061Gly) n.11213C>G c.*10851C>G (n.*10851C>G) c.13547C>G (p.Ala4516Gly) c.13544C>G (p.Ala4515Gly) c.13382C>G (p.Ala4461Gly) c.13475C>G (p.Ala4492Gly) c.13379C>G (p.Ala4460Gly) c.13499C>G (p.Ala4500Gly) c.13427C>G (p.Ala4476Gly) c.13394C>G (p.Ala4465Gly) c.13310C>G (p.Ala4437Gly) c.12632C>G (p.Ala4211Gly) c.11093C>G (p.Ala3698Gly) c.13514C>G (p.Ala4505Gly) c.13496C>G (p.Ala4499Gly) c.13472C>G (p.Ala4491Gly) c.13400C>G (p.Ala4467Gly) c.13364C>G (p.Ala4455Gly) c.10217C>G (p.Ala3406Gly) c.9821C>G (p.Ala3274Gly) | |
7 | g.152148596G= | CA1752986011 | KMT2C | c.1519C= n.2463C= c.13502C= (p.Ala4501=) n.2631C= n.8523C= c.3904C= c.10841C= (p.Ala3614=) n.4961C= c.3976C= n.2097C= n.2047C= c.1748C= (p.Ala583=) c.8228C= (p.Ala2743=) n.89C= c.13331C= (p.Ala4444=) c.9118C= c.3973C= c.3907C= n.8042C= c.8231C= (p.Ala2744=) c.12896C= (p.Ala4299=) c.3908C= n.2346C= c.6012C= c.3182C= (p.Ala1061=) n.11213C= c.*10851C= (n.*10851C=) c.13547C= (p.Ala4516=) c.13544C= (p.Ala4515=) c.13382C= (p.Ala4461=) c.13475C= (p.Ala4492=) c.13379C= (p.Ala4460=) c.13499C= (p.Ala4500=) c.13427C= (p.Ala4476=) c.13394C= (p.Ala4465=) c.13310C= (p.Ala4437=) c.12632C= (p.Ala4211=) c.11093C= (p.Ala3698=) c.13514C= (p.Ala4505=) c.13496C= (p.Ala4499=) c.13472C= (p.Ala4491=) c.13400C= (p.Ala4467=) c.13364C= (p.Ala4455=) c.10217C= (p.Ala3406=) c.9821C= (p.Ala3274=) | |
7 | g.152148596G>T | CA370091507 | KMT2C | c.1519C>A n.2463C>A c.13502C>A (p.Ala4501Asp) n.2631C>A n.8523C>A c.3904C>A c.10841C>A (p.Ala3614Asp) n.4961C>A c.3976C>A n.2097C>A n.2047C>A c.1748C>A (p.Ala583Asp) c.8228C>A (p.Ala2743Asp) n.89C>A c.13331C>A (p.Ala4444Asp) c.9118C>A c.3973C>A c.3907C>A n.8042C>A c.8231C>A (p.Ala2744Asp) c.12896C>A (p.Ala4299Asp) c.3908C>A n.2346C>A c.6012C>A c.3182C>A (p.Ala1061Asp) n.11213C>A c.*10851C>A (n.*10851C>A) c.13547C>A (p.Ala4516Asp) c.13544C>A (p.Ala4515Asp) c.13382C>A (p.Ala4461Asp) c.13475C>A (p.Ala4492Asp) c.13379C>A (p.Ala4460Asp) c.13499C>A (p.Ala4500Asp) c.13427C>A (p.Ala4476Asp) c.13394C>A (p.Ala4465Asp) c.13310C>A (p.Ala4437Asp) c.12632C>A (p.Ala4211Asp) c.11093C>A (p.Ala3698Asp) c.13514C>A (p.Ala4505Asp) c.13496C>A (p.Ala4499Asp) c.13472C>A (p.Ala4491Asp) c.13400C>A (p.Ala4467Asp) c.13364C>A (p.Ala4455Asp) c.10217C>A (p.Ala3406Asp) c.9821C>A (p.Ala3274Asp) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.152148597C>A | CA370091511 | KMT2C | c.1518G>T n.2462G>T c.13501G>T (p.Ala4501Ser) n.2630G>T n.8522G>T c.3903G>T c.10840G>T (p.Ala3614Ser) n.4960G>T c.3975G>T n.2096G>T n.2046G>T c.1747G>T (p.Ala583Ser) c.8227G>T (p.Ala2743Ser) n.88G>T c.13330G>T (p.Ala4444Ser) c.9117G>T c.3972G>T c.3906G>T n.8041G>T c.8230G>T (p.Ala2744Ser) c.12895G>T (p.Ala4299Ser) c.3907G>T n.2345G>T c.6011G>T c.3181G>T (p.Ala1061Ser) n.11212G>T c.*10850G>T (n.*10850G>T) c.13546G>T (p.Ala4516Ser) c.13543G>T (p.Ala4515Ser) c.13381G>T (p.Ala4461Ser) c.13474G>T (p.Ala4492Ser) c.13378G>T (p.Ala4460Ser) c.13498G>T (p.Ala4500Ser) c.13426G>T (p.Ala4476Ser) c.13393G>T (p.Ala4465Ser) c.13309G>T (p.Ala4437Ser) c.12631G>T (p.Ala4211Ser) c.11092G>T (p.Ala3698Ser) c.13513G>T (p.Ala4505Ser) c.13495G>T (p.Ala4499Ser) c.13471G>T (p.Ala4491Ser) c.13399G>T (p.Ala4467Ser) c.13363G>T (p.Ala4455Ser) c.10216G>T (p.Ala3406Ser) c.9820G>T (p.Ala3274Ser) | |
7 | g.152148597C>G | CA370091512 | KMT2C | c.1518G>C n.2462G>C c.13501G>C (p.Ala4501Pro) n.2630G>C n.8522G>C c.3903G>C c.10840G>C (p.Ala3614Pro) n.4960G>C c.3975G>C n.2096G>C n.2046G>C c.1747G>C (p.Ala583Pro) c.8227G>C (p.Ala2743Pro) n.88G>C c.13330G>C (p.Ala4444Pro) c.9117G>C c.3972G>C c.3906G>C n.8041G>C c.8230G>C (p.Ala2744Pro) c.12895G>C (p.Ala4299Pro) c.3907G>C n.2345G>C c.6011G>C c.3181G>C (p.Ala1061Pro) n.11212G>C c.*10850G>C (n.*10850G>C) c.13546G>C (p.Ala4516Pro) c.13543G>C (p.Ala4515Pro) c.13381G>C (p.Ala4461Pro) c.13474G>C (p.Ala4492Pro) c.13378G>C (p.Ala4460Pro) c.13498G>C (p.Ala4500Pro) c.13426G>C (p.Ala4476Pro) c.13393G>C (p.Ala4465Pro) c.13309G>C (p.Ala4437Pro) c.12631G>C (p.Ala4211Pro) c.11092G>C (p.Ala3698Pro) c.13513G>C (p.Ala4505Pro) c.13495G>C (p.Ala4499Pro) c.13471G>C (p.Ala4491Pro) c.13399G>C (p.Ala4467Pro) c.13363G>C (p.Ala4455Pro) c.10216G>C (p.Ala3406Pro) c.9820G>C (p.Ala3274Pro) | |
7 | g.152148597C>T | CA370091514 | KMT2C | c.1518G>A n.2462G>A c.13501G>A (p.Ala4501Thr) n.2630G>A n.8522G>A c.3903G>A c.10840G>A (p.Ala3614Thr) n.4960G>A c.3975G>A n.2096G>A n.2046G>A c.1747G>A (p.Ala583Thr) c.8227G>A (p.Ala2743Thr) n.88G>A c.13330G>A (p.Ala4444Thr) c.9117G>A c.3972G>A c.3906G>A n.8041G>A c.8230G>A (p.Ala2744Thr) c.12895G>A (p.Ala4299Thr) c.3907G>A n.2345G>A c.6011G>A c.3181G>A (p.Ala1061Thr) n.11212G>A c.*10850G>A (n.*10850G>A) c.13546G>A (p.Ala4516Thr) c.13543G>A (p.Ala4515Thr) c.13381G>A (p.Ala4461Thr) c.13474G>A (p.Ala4492Thr) c.13378G>A (p.Ala4460Thr) c.13498G>A (p.Ala4500Thr) c.13426G>A (p.Ala4476Thr) c.13393G>A (p.Ala4465Thr) c.13309G>A (p.Ala4437Thr) c.12631G>A (p.Ala4211Thr) c.11092G>A (p.Ala3698Thr) c.13513G>A (p.Ala4505Thr) c.13495G>A (p.Ala4499Thr) c.13471G>A (p.Ala4491Thr) c.13399G>A (p.Ala4467Thr) c.13363G>A (p.Ala4455Thr) c.10216G>A (p.Ala3406Thr) c.9820G>A (p.Ala3274Thr) | |
7 | g.152148598C>A | CA370091516 | KMT2C | c.1517G>T n.2461G>T c.13500G>T (p.Gln4500His) n.2629G>T n.8521G>T c.3902G>T c.10839G>T (p.Gln3613His) n.4959G>T c.3974G>T n.2095G>T n.2045G>T c.1746G>T (p.Gln582His) c.8226G>T (p.Gln2742His) n.87G>T c.13329G>T (p.Gln4443His) c.9116G>T c.3971G>T c.3905G>T n.8040G>T c.8229G>T (p.Gln2743His) c.12894G>T (p.Gln4298His) c.3906G>T n.2344G>T c.6010G>T c.3180G>T (p.Gln1060His) n.11211G>T c.*10849G>T (n.*10849G>T) c.13545G>T (p.Gln4515His) c.13542G>T (p.Gln4514His) c.13380G>T (p.Gln4460His) c.13473G>T (p.Gln4491His) c.13377G>T (p.Gln4459His) c.13497G>T (p.Gln4499His) c.13425G>T (p.Gln4475His) c.13392G>T (p.Gln4464His) c.13308G>T (p.Gln4436His) c.12630G>T (p.Gln4210His) c.11091G>T (p.Gln3697His) c.13512G>T (p.Gln4504His) c.13494G>T (p.Gln4498His) c.13470G>T (p.Gln4490His) c.13398G>T (p.Gln4466His) c.13362G>T (p.Gln4454His) c.10215G>T (p.Gln3405His) c.9819G>T (p.Gln3273His) | dbSNP |
7 | g.152148598C>G | CA370091517 | KMT2C | c.1517G>C n.2461G>C c.13500G>C (p.Gln4500His) n.2629G>C n.8521G>C c.3902G>C c.10839G>C (p.Gln3613His) n.4959G>C c.3974G>C n.2095G>C n.2045G>C c.1746G>C (p.Gln582His) c.8226G>C (p.Gln2742His) n.87G>C c.13329G>C (p.Gln4443His) c.9116G>C c.3971G>C c.3905G>C n.8040G>C c.8229G>C (p.Gln2743His) c.12894G>C (p.Gln4298His) c.3906G>C n.2344G>C c.6010G>C c.3180G>C (p.Gln1060His) n.11211G>C c.*10849G>C (n.*10849G>C) c.13545G>C (p.Gln4515His) c.13542G>C (p.Gln4514His) c.13380G>C (p.Gln4460His) c.13473G>C (p.Gln4491His) c.13377G>C (p.Gln4459His) c.13497G>C (p.Gln4499His) c.13425G>C (p.Gln4475His) c.13392G>C (p.Gln4464His) c.13308G>C (p.Gln4436His) c.12630G>C (p.Gln4210His) c.11091G>C (p.Gln3697His) c.13512G>C (p.Gln4504His) c.13494G>C (p.Gln4498His) c.13470G>C (p.Gln4490His) c.13398G>C (p.Gln4466His) c.13362G>C (p.Gln4454His) c.10215G>C (p.Gln3405His) c.9819G>C (p.Gln3273His) | |
7 | g.152148598C>T | CA458884780 | KMT2C | c.1517G>A n.2461G>A c.13500G>A (p.Gln4500=) n.2629G>A n.8521G>A c.3902G>A c.10839G>A (p.Gln3613=) n.4959G>A c.3974G>A n.2095G>A n.2045G>A c.1746G>A (p.Gln582=) c.8226G>A (p.Gln2742=) n.87G>A c.13329G>A (p.Gln4443=) c.9116G>A c.3971G>A c.3905G>A n.8040G>A c.8229G>A (p.Gln2743=) c.12894G>A (p.Gln4298=) c.3906G>A n.2344G>A c.6010G>A c.3180G>A (p.Gln1060=) n.11211G>A c.*10849G>A (n.*10849G>A) c.13545G>A (p.Gln4515=) c.13542G>A (p.Gln4514=) c.13380G>A (p.Gln4460=) c.13473G>A (p.Gln4491=) c.13377G>A (p.Gln4459=) c.13497G>A (p.Gln4499=) c.13425G>A (p.Gln4475=) c.13392G>A (p.Gln4464=) c.13308G>A (p.Gln4436=) c.12630G>A (p.Gln4210=) c.11091G>A (p.Gln3697=) c.13512G>A (p.Gln4504=) c.13494G>A (p.Gln4498=) c.13470G>A (p.Gln4490=) c.13398G>A (p.Gln4466=) c.13362G>A (p.Gln4454=) c.10215G>A (p.Gln3405=) c.9819G>A (p.Gln3273=) | |
7 | g.152148599T>A | CA370091520 | KMT2C | c.1516A>T n.2460A>T c.13499A>T (p.Gln4500Leu) n.2628A>T n.8520A>T c.3901A>T c.10838A>T (p.Gln3613Leu) n.4958A>T c.3973A>T n.2094A>T n.2044A>T c.1745A>T (p.Gln582Leu) c.8225A>T (p.Gln2742Leu) n.86A>T c.13328A>T (p.Gln4443Leu) c.9115A>T c.3970A>T c.3904A>T n.8039A>T c.8228A>T (p.Gln2743Leu) c.12893A>T (p.Gln4298Leu) c.3905A>T n.2343A>T c.6009A>T c.3179A>T (p.Gln1060Leu) n.11210A>T c.*10848A>T (n.*10848A>T) c.13544A>T (p.Gln4515Leu) c.13541A>T (p.Gln4514Leu) c.13379A>T (p.Gln4460Leu) c.13472A>T (p.Gln4491Leu) c.13376A>T (p.Gln4459Leu) c.13496A>T (p.Gln4499Leu) c.13424A>T (p.Gln4475Leu) c.13391A>T (p.Gln4464Leu) c.13307A>T (p.Gln4436Leu) c.12629A>T (p.Gln4210Leu) c.11090A>T (p.Gln3697Leu) c.13511A>T (p.Gln4504Leu) c.13493A>T (p.Gln4498Leu) c.13469A>T (p.Gln4490Leu) c.13397A>T (p.Gln4466Leu) c.13361A>T (p.Gln4454Leu) c.10214A>T (p.Gln3405Leu) c.9818A>T (p.Gln3273Leu) | |
7 | g.152148599T>C | CA370091521 | KMT2C | c.1516A>G n.2460A>G c.13499A>G (p.Gln4500Arg) n.2628A>G n.8520A>G c.3901A>G c.10838A>G (p.Gln3613Arg) n.4958A>G c.3973A>G n.2094A>G n.2044A>G c.1745A>G (p.Gln582Arg) c.8225A>G (p.Gln2742Arg) n.86A>G c.13328A>G (p.Gln4443Arg) c.9115A>G c.3970A>G c.3904A>G n.8039A>G c.8228A>G (p.Gln2743Arg) c.12893A>G (p.Gln4298Arg) c.3905A>G n.2343A>G c.6009A>G c.3179A>G (p.Gln1060Arg) n.11210A>G c.*10848A>G (n.*10848A>G) c.13544A>G (p.Gln4515Arg) c.13541A>G (p.Gln4514Arg) c.13379A>G (p.Gln4460Arg) c.13472A>G (p.Gln4491Arg) c.13376A>G (p.Gln4459Arg) c.13496A>G (p.Gln4499Arg) c.13424A>G (p.Gln4475Arg) c.13391A>G (p.Gln4464Arg) c.13307A>G (p.Gln4436Arg) c.12629A>G (p.Gln4210Arg) c.11090A>G (p.Gln3697Arg) c.13511A>G (p.Gln4504Arg) c.13493A>G (p.Gln4498Arg) c.13469A>G (p.Gln4490Arg) c.13397A>G (p.Gln4466Arg) c.13361A>G (p.Gln4454Arg) c.10214A>G (p.Gln3405Arg) c.9818A>G (p.Gln3273Arg) | dbSNP gnomAD v4 COSMIC COSMIC |
7 | g.152148599T>G | CA370091523 | KMT2C | c.1516A>C n.2460A>C c.13499A>C (p.Gln4500Pro) n.2628A>C n.8520A>C c.3901A>C c.10838A>C (p.Gln3613Pro) n.4958A>C c.3973A>C n.2094A>C n.2044A>C c.1745A>C (p.Gln582Pro) c.8225A>C (p.Gln2742Pro) n.86A>C c.13328A>C (p.Gln4443Pro) c.9115A>C c.3970A>C c.3904A>C n.8039A>C c.8228A>C (p.Gln2743Pro) c.12893A>C (p.Gln4298Pro) c.3905A>C n.2343A>C c.6009A>C c.3179A>C (p.Gln1060Pro) n.11210A>C c.*10848A>C (n.*10848A>C) c.13544A>C (p.Gln4515Pro) c.13541A>C (p.Gln4514Pro) c.13379A>C (p.Gln4460Pro) c.13472A>C (p.Gln4491Pro) c.13376A>C (p.Gln4459Pro) c.13496A>C (p.Gln4499Pro) c.13424A>C (p.Gln4475Pro) c.13391A>C (p.Gln4464Pro) c.13307A>C (p.Gln4436Pro) c.12629A>C (p.Gln4210Pro) c.11090A>C (p.Gln3697Pro) c.13511A>C (p.Gln4504Pro) c.13493A>C (p.Gln4498Pro) c.13469A>C (p.Gln4490Pro) c.13397A>C (p.Gln4466Pro) c.13361A>C (p.Gln4454Pro) c.10214A>C (p.Gln3405Pro) c.9818A>C (p.Gln3273Pro) | |
7 | g.152148600G>A | CA370091525 | KMT2C | c.1515C>T n.2459C>T c.13498C>T (p.Gln4500Ter) n.2627C>T n.8519C>T c.3900C>T c.10837C>T (p.Gln3613Ter) n.4957C>T c.3972C>T n.2093C>T n.2043C>T c.1744C>T (p.Gln582Ter) c.8224C>T (p.Gln2742Ter) n.85C>T c.13327C>T (p.Gln4443Ter) c.9114C>T c.3969C>T c.3903C>T n.8038C>T c.8227C>T (p.Gln2743Ter) c.12892C>T (p.Gln4298Ter) c.3904C>T n.2342C>T c.6008C>T c.3178C>T (p.Gln1060Ter) n.11209C>T c.*10847C>T (n.*10847C>T) c.13543C>T (p.Gln4515Ter) c.13540C>T (p.Gln4514Ter) c.13378C>T (p.Gln4460Ter) c.13471C>T (p.Gln4491Ter) c.13375C>T (p.Gln4459Ter) c.13495C>T (p.Gln4499Ter) c.13423C>T (p.Gln4475Ter) c.13390C>T (p.Gln4464Ter) c.13306C>T (p.Gln4436Ter) c.12628C>T (p.Gln4210Ter) c.11089C>T (p.Gln3697Ter) c.13510C>T (p.Gln4504Ter) c.13492C>T (p.Gln4498Ter) c.13468C>T (p.Gln4490Ter) c.13396C>T (p.Gln4466Ter) c.13360C>T (p.Gln4454Ter) c.10213C>T (p.Gln3405Ter) c.9817C>T (p.Gln3273Ter) | gnomAD v4 |
7 | g.152148600G>C | CA370091527 | KMT2C | c.1515C>G n.2459C>G c.13498C>G (p.Gln4500Glu) n.2627C>G n.8519C>G c.3900C>G c.10837C>G (p.Gln3613Glu) n.4957C>G c.3972C>G n.2093C>G n.2043C>G c.1744C>G (p.Gln582Glu) c.8224C>G (p.Gln2742Glu) n.85C>G c.13327C>G (p.Gln4443Glu) c.9114C>G c.3969C>G c.3903C>G n.8038C>G c.8227C>G (p.Gln2743Glu) c.12892C>G (p.Gln4298Glu) c.3904C>G n.2342C>G c.6008C>G c.3178C>G (p.Gln1060Glu) n.11209C>G c.*10847C>G (n.*10847C>G) c.13543C>G (p.Gln4515Glu) c.13540C>G (p.Gln4514Glu) c.13378C>G (p.Gln4460Glu) c.13471C>G (p.Gln4491Glu) c.13375C>G (p.Gln4459Glu) c.13495C>G (p.Gln4499Glu) c.13423C>G (p.Gln4475Glu) c.13390C>G (p.Gln4464Glu) c.13306C>G (p.Gln4436Glu) c.12628C>G (p.Gln4210Glu) c.11089C>G (p.Gln3697Glu) c.13510C>G (p.Gln4504Glu) c.13492C>G (p.Gln4498Glu) c.13468C>G (p.Gln4490Glu) c.13396C>G (p.Gln4466Glu) c.13360C>G (p.Gln4454Glu) c.10213C>G (p.Gln3405Glu) c.9817C>G (p.Gln3273Glu) | |
7 | g.152148600G>T | CA370091528 | KMT2C | c.1515C>A n.2459C>A c.13498C>A (p.Gln4500Lys) n.2627C>A n.8519C>A c.3900C>A c.10837C>A (p.Gln3613Lys) n.4957C>A c.3972C>A n.2093C>A n.2043C>A c.1744C>A (p.Gln582Lys) c.8224C>A (p.Gln2742Lys) n.85C>A c.13327C>A (p.Gln4443Lys) c.9114C>A c.3969C>A c.3903C>A n.8038C>A c.8227C>A (p.Gln2743Lys) c.12892C>A (p.Gln4298Lys) c.3904C>A n.2342C>A c.6008C>A c.3178C>A (p.Gln1060Lys) n.11209C>A c.*10847C>A (n.*10847C>A) c.13543C>A (p.Gln4515Lys) c.13540C>A (p.Gln4514Lys) c.13378C>A (p.Gln4460Lys) c.13471C>A (p.Gln4491Lys) c.13375C>A (p.Gln4459Lys) c.13495C>A (p.Gln4499Lys) c.13423C>A (p.Gln4475Lys) c.13390C>A (p.Gln4464Lys) c.13306C>A (p.Gln4436Lys) c.12628C>A (p.Gln4210Lys) c.11089C>A (p.Gln3697Lys) c.13510C>A (p.Gln4504Lys) c.13492C>A (p.Gln4498Lys) c.13468C>A (p.Gln4490Lys) c.13396C>A (p.Gln4466Lys) c.13360C>A (p.Gln4454Lys) c.10213C>A (p.Gln3405Lys) c.9817C>A (p.Gln3273Lys) | |
7 | g.152148601A= | CA1752986013 | KMT2C | c.1514T= n.2458T= c.13497T= (p.Thr4499=) n.2626T= n.8518T= c.3899T= c.10836T= (p.Thr3612=) n.4956T= c.3971T= n.2092T= n.2042T= c.1743T= (p.Thr581=) c.8223T= (p.Thr2741=) n.84T= c.13326T= (p.Thr4442=) c.9113T= c.3968T= c.3902T= n.8037T= c.8226T= (p.Thr2742=) c.12891T= (p.Thr4297=) c.3903T= n.2341T= c.6007T= c.3177T= (p.Thr1059=) n.11208T= c.*10846T= (n.*10846T=) c.13542T= (p.Thr4514=) c.13539T= (p.Thr4513=) c.13377T= (p.Thr4459=) c.13470T= (p.Thr4490=) c.13374T= (p.Thr4458=) c.13494T= (p.Thr4498=) c.13422T= (p.Thr4474=) c.13389T= (p.Thr4463=) c.13305T= (p.Thr4435=) c.12627T= (p.Thr4209=) c.11088T= (p.Thr3696=) c.13509T= (p.Thr4503=) c.13491T= (p.Thr4497=) c.13467T= (p.Thr4489=) c.13395T= (p.Thr4465=) c.13359T= (p.Thr4453=) c.10212T= (p.Thr3404=) c.9816T= (p.Thr3272=) | |
7 | g.152148601A>C | CA458884790 | KMT2C | c.1514T>G n.2458T>G c.13497T>G (p.Thr4499=) n.2626T>G n.8518T>G c.3899T>G c.10836T>G (p.Thr3612=) n.4956T>G c.3971T>G n.2092T>G n.2042T>G c.1743T>G (p.Thr581=) c.8223T>G (p.Thr2741=) n.84T>G c.13326T>G (p.Thr4442=) c.9113T>G c.3968T>G c.3902T>G n.8037T>G c.8226T>G (p.Thr2742=) c.12891T>G (p.Thr4297=) c.3903T>G n.2341T>G c.6007T>G c.3177T>G (p.Thr1059=) n.11208T>G c.*10846T>G (n.*10846T>G) c.13542T>G (p.Thr4514=) c.13539T>G (p.Thr4513=) c.13377T>G (p.Thr4459=) c.13470T>G (p.Thr4490=) c.13374T>G (p.Thr4458=) c.13494T>G (p.Thr4498=) c.13422T>G (p.Thr4474=) c.13389T>G (p.Thr4463=) c.13305T>G (p.Thr4435=) c.12627T>G (p.Thr4209=) c.11088T>G (p.Thr3696=) c.13509T>G (p.Thr4503=) c.13491T>G (p.Thr4497=) c.13467T>G (p.Thr4489=) c.13395T>G (p.Thr4465=) c.13359T>G (p.Thr4453=) c.10212T>G (p.Thr3404=) c.9816T>G (p.Thr3272=) | |
7 | g.152148601A>G | CA458884788 | KMT2C | c.1514T>C n.2458T>C c.13497T>C (p.Thr4499=) n.2626T>C n.8518T>C c.3899T>C c.10836T>C (p.Thr3612=) n.4956T>C c.3971T>C n.2092T>C n.2042T>C c.1743T>C (p.Thr581=) c.8223T>C (p.Thr2741=) n.84T>C c.13326T>C (p.Thr4442=) c.9113T>C c.3968T>C c.3902T>C n.8037T>C c.8226T>C (p.Thr2742=) c.12891T>C (p.Thr4297=) c.3903T>C n.2341T>C c.6007T>C c.3177T>C (p.Thr1059=) n.11208T>C c.*10846T>C (n.*10846T>C) c.13542T>C (p.Thr4514=) c.13539T>C (p.Thr4513=) c.13377T>C (p.Thr4459=) c.13470T>C (p.Thr4490=) c.13374T>C (p.Thr4458=) c.13494T>C (p.Thr4498=) c.13422T>C (p.Thr4474=) c.13389T>C (p.Thr4463=) c.13305T>C (p.Thr4435=) c.12627T>C (p.Thr4209=) c.11088T>C (p.Thr3696=) c.13509T>C (p.Thr4503=) c.13491T>C (p.Thr4497=) c.13467T>C (p.Thr4489=) c.13395T>C (p.Thr4465=) c.13359T>C (p.Thr4453=) c.10212T>C (p.Thr3404=) c.9816T>C (p.Thr3272=) | dbSNP gnomAD v4 |
7 | g.152148601A>T | CA458884789 | KMT2C | c.1514T>A n.2458T>A c.13497T>A (p.Thr4499=) n.2626T>A n.8518T>A c.3899T>A c.10836T>A (p.Thr3612=) n.4956T>A c.3971T>A n.2092T>A n.2042T>A c.1743T>A (p.Thr581=) c.8223T>A (p.Thr2741=) n.84T>A c.13326T>A (p.Thr4442=) c.9113T>A c.3968T>A c.3902T>A n.8037T>A c.8226T>A (p.Thr2742=) c.12891T>A (p.Thr4297=) c.3903T>A n.2341T>A c.6007T>A c.3177T>A (p.Thr1059=) n.11208T>A c.*10846T>A (n.*10846T>A) c.13542T>A (p.Thr4514=) c.13539T>A (p.Thr4513=) c.13377T>A (p.Thr4459=) c.13470T>A (p.Thr4490=) c.13374T>A (p.Thr4458=) c.13494T>A (p.Thr4498=) c.13422T>A (p.Thr4474=) c.13389T>A (p.Thr4463=) c.13305T>A (p.Thr4435=) c.12627T>A (p.Thr4209=) c.11088T>A (p.Thr3696=) c.13509T>A (p.Thr4503=) c.13491T>A (p.Thr4497=) c.13467T>A (p.Thr4489=) c.13395T>A (p.Thr4465=) c.13359T>A (p.Thr4453=) c.10212T>A (p.Thr3404=) c.9816T>A (p.Thr3272=) | |
7 | g.152148602G>A | CA370091534 | KMT2C | c.1513C>T n.2457C>T c.13496C>T (p.Thr4499Ile) n.2625C>T n.8517C>T c.3898C>T c.10835C>T (p.Thr3612Ile) n.4955C>T c.3970C>T n.2091C>T n.2041C>T c.1742C>T (p.Thr581Ile) c.8222C>T (p.Thr2741Ile) n.83C>T c.13325C>T (p.Thr4442Ile) c.9112C>T c.3967C>T c.3901C>T n.8036C>T c.8225C>T (p.Thr2742Ile) c.12890C>T (p.Thr4297Ile) c.3902C>T n.2340C>T c.6006C>T c.3176C>T (p.Thr1059Ile) n.11207C>T c.*10845C>T (n.*10845C>T) c.13541C>T (p.Thr4514Ile) c.13538C>T (p.Thr4513Ile) c.13376C>T (p.Thr4459Ile) c.13469C>T (p.Thr4490Ile) c.13373C>T (p.Thr4458Ile) c.13493C>T (p.Thr4498Ile) c.13421C>T (p.Thr4474Ile) c.13388C>T (p.Thr4463Ile) c.13304C>T (p.Thr4435Ile) c.12626C>T (p.Thr4209Ile) c.11087C>T (p.Thr3696Ile) c.13508C>T (p.Thr4503Ile) c.13490C>T (p.Thr4497Ile) c.13466C>T (p.Thr4489Ile) c.13394C>T (p.Thr4465Ile) c.13358C>T (p.Thr4453Ile) c.10211C>T (p.Thr3404Ile) c.9815C>T (p.Thr3272Ile) | |
7 | g.152148602G>C | CA370091530 | KMT2C | c.1513C>G n.2457C>G c.13496C>G (p.Thr4499Ser) n.2625C>G n.8517C>G c.3898C>G c.10835C>G (p.Thr3612Ser) n.4955C>G c.3970C>G n.2091C>G n.2041C>G c.1742C>G (p.Thr581Ser) c.8222C>G (p.Thr2741Ser) n.83C>G c.13325C>G (p.Thr4442Ser) c.9112C>G c.3967C>G c.3901C>G n.8036C>G c.8225C>G (p.Thr2742Ser) c.12890C>G (p.Thr4297Ser) c.3902C>G n.2340C>G c.6006C>G c.3176C>G (p.Thr1059Ser) n.11207C>G c.*10845C>G (n.*10845C>G) c.13541C>G (p.Thr4514Ser) c.13538C>G (p.Thr4513Ser) c.13376C>G (p.Thr4459Ser) c.13469C>G (p.Thr4490Ser) c.13373C>G (p.Thr4458Ser) c.13493C>G (p.Thr4498Ser) c.13421C>G (p.Thr4474Ser) c.13388C>G (p.Thr4463Ser) c.13304C>G (p.Thr4435Ser) c.12626C>G (p.Thr4209Ser) c.11087C>G (p.Thr3696Ser) c.13508C>G (p.Thr4503Ser) c.13490C>G (p.Thr4497Ser) c.13466C>G (p.Thr4489Ser) c.13394C>G (p.Thr4465Ser) c.13358C>G (p.Thr4453Ser) c.10211C>G (p.Thr3404Ser) c.9815C>G (p.Thr3272Ser) | |
7 | g.152148602G>T | CA370091532 | KMT2C | c.1513C>A n.2457C>A c.13496C>A (p.Thr4499Asn) n.2625C>A n.8517C>A c.3898C>A c.10835C>A (p.Thr3612Asn) n.4955C>A c.3970C>A n.2091C>A n.2041C>A c.1742C>A (p.Thr581Asn) c.8222C>A (p.Thr2741Asn) n.83C>A c.13325C>A (p.Thr4442Asn) c.9112C>A c.3967C>A c.3901C>A n.8036C>A c.8225C>A (p.Thr2742Asn) c.12890C>A (p.Thr4297Asn) c.3902C>A n.2340C>A c.6006C>A c.3176C>A (p.Thr1059Asn) n.11207C>A c.*10845C>A (n.*10845C>A) c.13541C>A (p.Thr4514Asn) c.13538C>A (p.Thr4513Asn) c.13376C>A (p.Thr4459Asn) c.13469C>A (p.Thr4490Asn) c.13373C>A (p.Thr4458Asn) c.13493C>A (p.Thr4498Asn) c.13421C>A (p.Thr4474Asn) c.13388C>A (p.Thr4463Asn) c.13304C>A (p.Thr4435Asn) c.12626C>A (p.Thr4209Asn) c.11087C>A (p.Thr3696Asn) c.13508C>A (p.Thr4503Asn) c.13490C>A (p.Thr4497Asn) c.13466C>A (p.Thr4489Asn) c.13394C>A (p.Thr4465Asn) c.13358C>A (p.Thr4453Asn) c.10211C>A (p.Thr3404Asn) c.9815C>A (p.Thr3272Asn) | |
7 | g.152148603T>A | CA370091535 | KMT2C | c.1512A>T n.2456A>T c.13495A>T (p.Thr4499Ser) n.2624A>T n.8516A>T c.3897A>T c.10834A>T (p.Thr3612Ser) n.4954A>T c.3969A>T n.2090A>T n.2040A>T c.1741A>T (p.Thr581Ser) c.8221A>T (p.Thr2741Ser) n.82A>T c.13324A>T (p.Thr4442Ser) c.9111A>T c.3966A>T c.3900A>T n.8035A>T c.8224A>T (p.Thr2742Ser) c.12889A>T (p.Thr4297Ser) c.3901A>T n.2339A>T c.6005A>T c.3175A>T (p.Thr1059Ser) n.11206A>T c.*10844A>T (n.*10844A>T) c.13540A>T (p.Thr4514Ser) c.13537A>T (p.Thr4513Ser) c.13375A>T (p.Thr4459Ser) c.13468A>T (p.Thr4490Ser) c.13372A>T (p.Thr4458Ser) c.13492A>T (p.Thr4498Ser) c.13420A>T (p.Thr4474Ser) c.13387A>T (p.Thr4463Ser) c.13303A>T (p.Thr4435Ser) c.12625A>T (p.Thr4209Ser) c.11086A>T (p.Thr3696Ser) c.13507A>T (p.Thr4503Ser) c.13489A>T (p.Thr4497Ser) c.13465A>T (p.Thr4489Ser) c.13393A>T (p.Thr4465Ser) c.13357A>T (p.Thr4453Ser) c.10210A>T (p.Thr3404Ser) c.9814A>T (p.Thr3272Ser) | |
7 | g.152148603T>C | CA370091538 | KMT2C | c.1512A>G n.2456A>G c.13495A>G (p.Thr4499Ala) n.2624A>G n.8516A>G c.3897A>G c.10834A>G (p.Thr3612Ala) n.4954A>G c.3969A>G n.2090A>G n.2040A>G c.1741A>G (p.Thr581Ala) c.8221A>G (p.Thr2741Ala) n.82A>G c.13324A>G (p.Thr4442Ala) c.9111A>G c.3966A>G c.3900A>G n.8035A>G c.8224A>G (p.Thr2742Ala) c.12889A>G (p.Thr4297Ala) c.3901A>G n.2339A>G c.6005A>G c.3175A>G (p.Thr1059Ala) n.11206A>G c.*10844A>G (n.*10844A>G) c.13540A>G (p.Thr4514Ala) c.13537A>G (p.Thr4513Ala) c.13375A>G (p.Thr4459Ala) c.13468A>G (p.Thr4490Ala) c.13372A>G (p.Thr4458Ala) c.13492A>G (p.Thr4498Ala) c.13420A>G (p.Thr4474Ala) c.13387A>G (p.Thr4463Ala) c.13303A>G (p.Thr4435Ala) c.12625A>G (p.Thr4209Ala) c.11086A>G (p.Thr3696Ala) c.13507A>G (p.Thr4503Ala) c.13489A>G (p.Thr4497Ala) c.13465A>G (p.Thr4489Ala) c.13393A>G (p.Thr4465Ala) c.13357A>G (p.Thr4453Ala) c.10210A>G (p.Thr3404Ala) c.9814A>G (p.Thr3272Ala) | |
7 | g.152148603T>G | CA370091536 | KMT2C | c.1512A>C n.2456A>C c.13495A>C (p.Thr4499Pro) n.2624A>C n.8516A>C c.3897A>C c.10834A>C (p.Thr3612Pro) n.4954A>C c.3969A>C n.2090A>C n.2040A>C c.1741A>C (p.Thr581Pro) c.8221A>C (p.Thr2741Pro) n.82A>C c.13324A>C (p.Thr4442Pro) c.9111A>C c.3966A>C c.3900A>C n.8035A>C c.8224A>C (p.Thr2742Pro) c.12889A>C (p.Thr4297Pro) c.3901A>C n.2339A>C c.6005A>C c.3175A>C (p.Thr1059Pro) n.11206A>C c.*10844A>C (n.*10844A>C) c.13540A>C (p.Thr4514Pro) c.13537A>C (p.Thr4513Pro) c.13375A>C (p.Thr4459Pro) c.13468A>C (p.Thr4490Pro) c.13372A>C (p.Thr4458Pro) c.13492A>C (p.Thr4498Pro) c.13420A>C (p.Thr4474Pro) c.13387A>C (p.Thr4463Pro) c.13303A>C (p.Thr4435Pro) c.12625A>C (p.Thr4209Pro) c.11086A>C (p.Thr3696Pro) c.13507A>C (p.Thr4503Pro) c.13489A>C (p.Thr4497Pro) c.13465A>C (p.Thr4489Pro) c.13393A>C (p.Thr4465Pro) c.13357A>C (p.Thr4453Pro) c.10210A>C (p.Thr3404Pro) c.9814A>C (p.Thr3272Pro) | |
7 | g.152148604C>A | CA370091540 | KMT2C | c.1511G>T n.2455G>T c.13494G>T (p.Glu4498Asp) n.2623G>T n.8515G>T c.3896G>T c.10833G>T (p.Glu3611Asp) n.4953G>T c.3968G>T n.2089G>T n.2039G>T c.1740G>T (p.Glu580Asp) c.8220G>T (p.Glu2740Asp) n.81G>T c.13323G>T (p.Glu4441Asp) c.9110G>T c.3965G>T c.3899G>T n.8034G>T c.8223G>T (p.Glu2741Asp) c.12888G>T (p.Glu4296Asp) c.3900G>T n.2338G>T c.6004G>T c.3174G>T (p.Glu1058Asp) n.11205G>T c.*10843G>T (n.*10843G>T) c.13539G>T (p.Glu4513Asp) c.13536G>T (p.Glu4512Asp) c.13374G>T (p.Glu4458Asp) c.13467G>T (p.Glu4489Asp) c.13371G>T (p.Glu4457Asp) c.13491G>T (p.Glu4497Asp) c.13419G>T (p.Glu4473Asp) c.13386G>T (p.Glu4462Asp) c.13302G>T (p.Glu4434Asp) c.12624G>T (p.Glu4208Asp) c.11085G>T (p.Glu3695Asp) c.13506G>T (p.Glu4502Asp) c.13488G>T (p.Glu4496Asp) c.13464G>T (p.Glu4488Asp) c.13392G>T (p.Glu4464Asp) c.13356G>T (p.Glu4452Asp) c.10209G>T (p.Glu3403Asp) c.9813G>T (p.Glu3271Asp) | |
7 | g.152148604C>G | CA370091541 | KMT2C | c.1511G>C n.2455G>C c.13494G>C (p.Glu4498Asp) n.2623G>C n.8515G>C c.3896G>C c.10833G>C (p.Glu3611Asp) n.4953G>C c.3968G>C n.2089G>C n.2039G>C c.1740G>C (p.Glu580Asp) c.8220G>C (p.Glu2740Asp) n.81G>C c.13323G>C (p.Glu4441Asp) c.9110G>C c.3965G>C c.3899G>C n.8034G>C c.8223G>C (p.Glu2741Asp) c.12888G>C (p.Glu4296Asp) c.3900G>C n.2338G>C c.6004G>C c.3174G>C (p.Glu1058Asp) n.11205G>C c.*10843G>C (n.*10843G>C) c.13539G>C (p.Glu4513Asp) c.13536G>C (p.Glu4512Asp) c.13374G>C (p.Glu4458Asp) c.13467G>C (p.Glu4489Asp) c.13371G>C (p.Glu4457Asp) c.13491G>C (p.Glu4497Asp) c.13419G>C (p.Glu4473Asp) c.13386G>C (p.Glu4462Asp) c.13302G>C (p.Glu4434Asp) c.12624G>C (p.Glu4208Asp) c.11085G>C (p.Glu3695Asp) c.13506G>C (p.Glu4502Asp) c.13488G>C (p.Glu4496Asp) c.13464G>C (p.Glu4488Asp) c.13392G>C (p.Glu4464Asp) c.13356G>C (p.Glu4452Asp) c.10209G>C (p.Glu3403Asp) c.9813G>C (p.Glu3271Asp) | |
7 | g.152148604C>T | CA458884798 | KMT2C | c.1511G>A n.2455G>A c.13494G>A (p.Glu4498=) n.2623G>A n.8515G>A c.3896G>A c.10833G>A (p.Glu3611=) n.4953G>A c.3968G>A n.2089G>A n.2039G>A c.1740G>A (p.Glu580=) c.8220G>A (p.Glu2740=) n.81G>A c.13323G>A (p.Glu4441=) c.9110G>A c.3965G>A c.3899G>A n.8034G>A c.8223G>A (p.Glu2741=) c.12888G>A (p.Glu4296=) c.3900G>A n.2338G>A c.6004G>A c.3174G>A (p.Glu1058=) n.11205G>A c.*10843G>A (n.*10843G>A) c.13539G>A (p.Glu4513=) c.13536G>A (p.Glu4512=) c.13374G>A (p.Glu4458=) c.13467G>A (p.Glu4489=) c.13371G>A (p.Glu4457=) c.13491G>A (p.Glu4497=) c.13419G>A (p.Glu4473=) c.13386G>A (p.Glu4462=) c.13302G>A (p.Glu4434=) c.12624G>A (p.Glu4208=) c.11085G>A (p.Glu3695=) c.13506G>A (p.Glu4502=) c.13488G>A (p.Glu4496=) c.13464G>A (p.Glu4488=) c.13392G>A (p.Glu4464=) c.13356G>A (p.Glu4452=) c.10209G>A (p.Glu3403=) c.9813G>A (p.Glu3271=) | |
7 | g.152148605T>A | CA370091544 | KMT2C | c.1510A>T n.2454A>T c.13493A>T (p.Glu4498Val) n.2622A>T n.8514A>T c.3895A>T c.10832A>T (p.Glu3611Val) n.4952A>T c.3967A>T n.2088A>T n.2038A>T c.1739A>T (p.Glu580Val) c.8219A>T (p.Glu2740Val) n.80A>T c.13322A>T (p.Glu4441Val) c.9109A>T c.3964A>T c.3898A>T n.8033A>T c.8222A>T (p.Glu2741Val) c.12887A>T (p.Glu4296Val) c.3899A>T n.2337A>T c.6003A>T c.3173A>T (p.Glu1058Val) n.11204A>T c.*10842A>T (n.*10842A>T) c.13538A>T (p.Glu4513Val) c.13535A>T (p.Glu4512Val) c.13373A>T (p.Glu4458Val) c.13466A>T (p.Glu4489Val) c.13370A>T (p.Glu4457Val) c.13490A>T (p.Glu4497Val) c.13418A>T (p.Glu4473Val) c.13385A>T (p.Glu4462Val) c.13301A>T (p.Glu4434Val) c.12623A>T (p.Glu4208Val) c.11084A>T (p.Glu3695Val) c.13505A>T (p.Glu4502Val) c.13487A>T (p.Glu4496Val) c.13463A>T (p.Glu4488Val) c.13391A>T (p.Glu4464Val) c.13355A>T (p.Glu4452Val) c.10208A>T (p.Glu3403Val) c.9812A>T (p.Glu3271Val) | |
7 | g.152148605T>C | CA370091546 | KMT2C | c.1510A>G n.2454A>G c.13493A>G (p.Glu4498Gly) n.2622A>G n.8514A>G c.3895A>G c.10832A>G (p.Glu3611Gly) n.4952A>G c.3967A>G n.2088A>G n.2038A>G c.1739A>G (p.Glu580Gly) c.8219A>G (p.Glu2740Gly) n.80A>G c.13322A>G (p.Glu4441Gly) c.9109A>G c.3964A>G c.3898A>G n.8033A>G c.8222A>G (p.Glu2741Gly) c.12887A>G (p.Glu4296Gly) c.3899A>G n.2337A>G c.6003A>G c.3173A>G (p.Glu1058Gly) n.11204A>G c.*10842A>G (n.*10842A>G) c.13538A>G (p.Glu4513Gly) c.13535A>G (p.Glu4512Gly) c.13373A>G (p.Glu4458Gly) c.13466A>G (p.Glu4489Gly) c.13370A>G (p.Glu4457Gly) c.13490A>G (p.Glu4497Gly) c.13418A>G (p.Glu4473Gly) c.13385A>G (p.Glu4462Gly) c.13301A>G (p.Glu4434Gly) c.12623A>G (p.Glu4208Gly) c.11084A>G (p.Glu3695Gly) c.13505A>G (p.Glu4502Gly) c.13487A>G (p.Glu4496Gly) c.13463A>G (p.Glu4488Gly) c.13391A>G (p.Glu4464Gly) c.13355A>G (p.Glu4452Gly) c.10208A>G (p.Glu3403Gly) c.9812A>G (p.Glu3271Gly) | |
7 | g.152148605T>G | CA370091547 | KMT2C | c.1510A>C n.2454A>C c.13493A>C (p.Glu4498Ala) n.2622A>C n.8514A>C c.3895A>C c.10832A>C (p.Glu3611Ala) n.4952A>C c.3967A>C n.2088A>C n.2038A>C c.1739A>C (p.Glu580Ala) c.8219A>C (p.Glu2740Ala) n.80A>C c.13322A>C (p.Glu4441Ala) c.9109A>C c.3964A>C c.3898A>C n.8033A>C c.8222A>C (p.Glu2741Ala) c.12887A>C (p.Glu4296Ala) c.3899A>C n.2337A>C c.6003A>C c.3173A>C (p.Glu1058Ala) n.11204A>C c.*10842A>C (n.*10842A>C) c.13538A>C (p.Glu4513Ala) c.13535A>C (p.Glu4512Ala) c.13373A>C (p.Glu4458Ala) c.13466A>C (p.Glu4489Ala) c.13370A>C (p.Glu4457Ala) c.13490A>C (p.Glu4497Ala) c.13418A>C (p.Glu4473Ala) c.13385A>C (p.Glu4462Ala) c.13301A>C (p.Glu4434Ala) c.12623A>C (p.Glu4208Ala) c.11084A>C (p.Glu3695Ala) c.13505A>C (p.Glu4502Ala) c.13487A>C (p.Glu4496Ala) c.13463A>C (p.Glu4488Ala) c.13391A>C (p.Glu4464Ala) c.13355A>C (p.Glu4452Ala) c.10208A>C (p.Glu3403Ala) c.9812A>C (p.Glu3271Ala) | |
7 | g.152148606C>A | CA370091549 | KMT2C | c.1509G>T n.2453G>T c.13492G>T (p.Glu4498Ter) n.2621G>T n.8513G>T c.3894G>T c.10831G>T (p.Glu3611Ter) n.4951G>T c.3966G>T n.2087G>T n.2037G>T c.1738G>T (p.Glu580Ter) c.8218G>T (p.Glu2740Ter) n.79G>T c.13321G>T (p.Glu4441Ter) c.9108G>T c.3963G>T c.3897G>T n.8032G>T c.8221G>T (p.Glu2741Ter) c.12886G>T (p.Glu4296Ter) c.3898G>T n.2336G>T c.6002G>T c.3172G>T (p.Glu1058Ter) n.11203G>T c.*10841G>T (n.*10841G>T) c.13537G>T (p.Glu4513Ter) c.13534G>T (p.Glu4512Ter) c.13372G>T (p.Glu4458Ter) c.13465G>T (p.Glu4489Ter) c.13369G>T (p.Glu4457Ter) c.13489G>T (p.Glu4497Ter) c.13417G>T (p.Glu4473Ter) c.13384G>T (p.Glu4462Ter) c.13300G>T (p.Glu4434Ter) c.12622G>T (p.Glu4208Ter) c.11083G>T (p.Glu3695Ter) c.13504G>T (p.Glu4502Ter) c.13486G>T (p.Glu4496Ter) c.13462G>T (p.Glu4488Ter) c.13390G>T (p.Glu4464Ter) c.13354G>T (p.Glu4452Ter) c.10207G>T (p.Glu3403Ter) c.9811G>T (p.Glu3271Ter) | |
7 | g.152148606C>G | CA370091551 | KMT2C | c.1509G>C n.2453G>C c.13492G>C (p.Glu4498Gln) n.2621G>C n.8513G>C c.3894G>C c.10831G>C (p.Glu3611Gln) n.4951G>C c.3966G>C n.2087G>C n.2037G>C c.1738G>C (p.Glu580Gln) c.8218G>C (p.Glu2740Gln) n.79G>C c.13321G>C (p.Glu4441Gln) c.9108G>C c.3963G>C c.3897G>C n.8032G>C c.8221G>C (p.Glu2741Gln) c.12886G>C (p.Glu4296Gln) c.3898G>C n.2336G>C c.6002G>C c.3172G>C (p.Glu1058Gln) n.11203G>C c.*10841G>C (n.*10841G>C) c.13537G>C (p.Glu4513Gln) c.13534G>C (p.Glu4512Gln) c.13372G>C (p.Glu4458Gln) c.13465G>C (p.Glu4489Gln) c.13369G>C (p.Glu4457Gln) c.13489G>C (p.Glu4497Gln) c.13417G>C (p.Glu4473Gln) c.13384G>C (p.Glu4462Gln) c.13300G>C (p.Glu4434Gln) c.12622G>C (p.Glu4208Gln) c.11083G>C (p.Glu3695Gln) c.13504G>C (p.Glu4502Gln) c.13486G>C (p.Glu4496Gln) c.13462G>C (p.Glu4488Gln) c.13390G>C (p.Glu4464Gln) c.13354G>C (p.Glu4452Gln) c.10207G>C (p.Glu3403Gln) c.9811G>C (p.Glu3271Gln) | |
7 | g.152148606C>T | CA370091552 | KMT2C | c.1509G>A n.2453G>A c.13492G>A (p.Glu4498Lys) n.2621G>A n.8513G>A c.3894G>A c.10831G>A (p.Glu3611Lys) n.4951G>A c.3966G>A n.2087G>A n.2037G>A c.1738G>A (p.Glu580Lys) c.8218G>A (p.Glu2740Lys) n.79G>A c.13321G>A (p.Glu4441Lys) c.9108G>A c.3963G>A c.3897G>A n.8032G>A c.8221G>A (p.Glu2741Lys) c.12886G>A (p.Glu4296Lys) c.3898G>A n.2336G>A c.6002G>A c.3172G>A (p.Glu1058Lys) n.11203G>A c.*10841G>A (n.*10841G>A) c.13537G>A (p.Glu4513Lys) c.13534G>A (p.Glu4512Lys) c.13372G>A (p.Glu4458Lys) c.13465G>A (p.Glu4489Lys) c.13369G>A (p.Glu4457Lys) c.13489G>A (p.Glu4497Lys) c.13417G>A (p.Glu4473Lys) c.13384G>A (p.Glu4462Lys) c.13300G>A (p.Glu4434Lys) c.12622G>A (p.Glu4208Lys) c.11083G>A (p.Glu3695Lys) c.13504G>A (p.Glu4502Lys) c.13486G>A (p.Glu4496Lys) c.13462G>A (p.Glu4488Lys) c.13390G>A (p.Glu4464Lys) c.13354G>A (p.Glu4452Lys) c.10207G>A (p.Glu3403Lys) c.9811G>A (p.Glu3271Lys) | |
7 | g.152148607A= | CA1752986016 | KMT2C | c.1508T= n.2452T= c.13491T= (p.Tyr4497=) n.2620T= n.8512T= c.3893T= c.10830T= (p.Tyr3610=) n.4950T= c.3965T= n.2086T= n.2036T= c.1737T= (p.Tyr579=) c.8217T= (p.Tyr2739=) n.78T= c.13320T= (p.Tyr4440=) c.9107T= c.3962T= c.3896T= n.8031T= c.8220T= (p.Tyr2740=) c.12885T= (p.Tyr4295=) c.3897T= n.2335T= c.6001T= c.3171T= (p.Tyr1057=) n.11202T= c.*10840T= (n.*10840T=) c.13536T= (p.Tyr4512=) c.13533T= (p.Tyr4511=) c.13371T= (p.Tyr4457=) c.13464T= (p.Tyr4488=) c.13368T= (p.Tyr4456=) c.13488T= (p.Tyr4496=) c.13416T= (p.Tyr4472=) c.13383T= (p.Tyr4461=) c.13299T= (p.Tyr4433=) c.12621T= (p.Tyr4207=) c.11082T= (p.Tyr3694=) c.13503T= (p.Tyr4501=) c.13485T= (p.Tyr4495=) c.13461T= (p.Tyr4487=) c.13389T= (p.Tyr4463=) c.13353T= (p.Tyr4451=) c.10206T= (p.Tyr3402=) c.9810T= (p.Tyr3270=) | |
7 | g.152148607A>C | CA370091554 | KMT2C | c.1508T>G n.2452T>G c.13491T>G (p.Tyr4497Ter) n.2620T>G n.8512T>G c.3893T>G c.10830T>G (p.Tyr3610Ter) n.4950T>G c.3965T>G n.2086T>G n.2036T>G c.1737T>G (p.Tyr579Ter) c.8217T>G (p.Tyr2739Ter) n.78T>G c.13320T>G (p.Tyr4440Ter) c.9107T>G c.3962T>G c.3896T>G n.8031T>G c.8220T>G (p.Tyr2740Ter) c.12885T>G (p.Tyr4295Ter) c.3897T>G n.2335T>G c.6001T>G c.3171T>G (p.Tyr1057Ter) n.11202T>G c.*10840T>G (n.*10840T>G) c.13536T>G (p.Tyr4512Ter) c.13533T>G (p.Tyr4511Ter) c.13371T>G (p.Tyr4457Ter) c.13464T>G (p.Tyr4488Ter) c.13368T>G (p.Tyr4456Ter) c.13488T>G (p.Tyr4496Ter) c.13416T>G (p.Tyr4472Ter) c.13383T>G (p.Tyr4461Ter) c.13299T>G (p.Tyr4433Ter) c.12621T>G (p.Tyr4207Ter) c.11082T>G (p.Tyr3694Ter) c.13503T>G (p.Tyr4501Ter) c.13485T>G (p.Tyr4495Ter) c.13461T>G (p.Tyr4487Ter) c.13389T>G (p.Tyr4463Ter) c.13353T>G (p.Tyr4451Ter) c.10206T>G (p.Tyr3402Ter) c.9810T>G (p.Tyr3270Ter) | |
7 | g.152148607A>G | CA458884803 | KMT2C | c.1508T>C n.2452T>C c.13491T>C (p.Tyr4497=) n.2620T>C n.8512T>C c.3893T>C c.10830T>C (p.Tyr3610=) n.4950T>C c.3965T>C n.2086T>C n.2036T>C c.1737T>C (p.Tyr579=) c.8217T>C (p.Tyr2739=) n.78T>C c.13320T>C (p.Tyr4440=) c.9107T>C c.3962T>C c.3896T>C n.8031T>C c.8220T>C (p.Tyr2740=) c.12885T>C (p.Tyr4295=) c.3897T>C n.2335T>C c.6001T>C c.3171T>C (p.Tyr1057=) n.11202T>C c.*10840T>C (n.*10840T>C) c.13536T>C (p.Tyr4512=) c.13533T>C (p.Tyr4511=) c.13371T>C (p.Tyr4457=) c.13464T>C (p.Tyr4488=) c.13368T>C (p.Tyr4456=) c.13488T>C (p.Tyr4496=) c.13416T>C (p.Tyr4472=) c.13383T>C (p.Tyr4461=) c.13299T>C (p.Tyr4433=) c.12621T>C (p.Tyr4207=) c.11082T>C (p.Tyr3694=) c.13503T>C (p.Tyr4501=) c.13485T>C (p.Tyr4495=) c.13461T>C (p.Tyr4487=) c.13389T>C (p.Tyr4463=) c.13353T>C (p.Tyr4451=) c.10206T>C (p.Tyr3402=) c.9810T>C (p.Tyr3270=) | dbSNP |
7 | g.152148607A>T | CA370091556 | KMT2C | c.1508T>A n.2452T>A c.13491T>A (p.Tyr4497Ter) n.2620T>A n.8512T>A c.3893T>A c.10830T>A (p.Tyr3610Ter) n.4950T>A c.3965T>A n.2086T>A n.2036T>A c.1737T>A (p.Tyr579Ter) c.8217T>A (p.Tyr2739Ter) n.78T>A c.13320T>A (p.Tyr4440Ter) c.9107T>A c.3962T>A c.3896T>A n.8031T>A c.8220T>A (p.Tyr2740Ter) c.12885T>A (p.Tyr4295Ter) c.3897T>A n.2335T>A c.6001T>A c.3171T>A (p.Tyr1057Ter) n.11202T>A c.*10840T>A (n.*10840T>A) c.13536T>A (p.Tyr4512Ter) c.13533T>A (p.Tyr4511Ter) c.13371T>A (p.Tyr4457Ter) c.13464T>A (p.Tyr4488Ter) c.13368T>A (p.Tyr4456Ter) c.13488T>A (p.Tyr4496Ter) c.13416T>A (p.Tyr4472Ter) c.13383T>A (p.Tyr4461Ter) c.13299T>A (p.Tyr4433Ter) c.12621T>A (p.Tyr4207Ter) c.11082T>A (p.Tyr3694Ter) c.13503T>A (p.Tyr4501Ter) c.13485T>A (p.Tyr4495Ter) c.13461T>A (p.Tyr4487Ter) c.13389T>A (p.Tyr4463Ter) c.13353T>A (p.Tyr4451Ter) c.10206T>A (p.Tyr3402Ter) c.9810T>A (p.Tyr3270Ter) | COSMIC COSMIC |
7 | g.152148608T>A | CA370091558 | KMT2C | c.1507A>T n.2451A>T c.13490A>T (p.Tyr4497Phe) n.2619A>T n.8511A>T c.3892A>T c.10829A>T (p.Tyr3610Phe) n.4949A>T c.3964A>T n.2085A>T n.2035A>T c.1736A>T (p.Tyr579Phe) c.8216A>T (p.Tyr2739Phe) n.77A>T c.13319A>T (p.Tyr4440Phe) c.9106A>T c.3961A>T c.3895A>T n.8030A>T c.8219A>T (p.Tyr2740Phe) c.12884A>T (p.Tyr4295Phe) c.3896A>T n.2334A>T c.6000A>T c.3170A>T (p.Tyr1057Phe) n.11201A>T c.*10839A>T (n.*10839A>T) c.13535A>T (p.Tyr4512Phe) c.13532A>T (p.Tyr4511Phe) c.13370A>T (p.Tyr4457Phe) c.13463A>T (p.Tyr4488Phe) c.13367A>T (p.Tyr4456Phe) c.13487A>T (p.Tyr4496Phe) c.13415A>T (p.Tyr4472Phe) c.13382A>T (p.Tyr4461Phe) c.13298A>T (p.Tyr4433Phe) c.12620A>T (p.Tyr4207Phe) c.11081A>T (p.Tyr3694Phe) c.13502A>T (p.Tyr4501Phe) c.13484A>T (p.Tyr4495Phe) c.13460A>T (p.Tyr4487Phe) c.13388A>T (p.Tyr4463Phe) c.13352A>T (p.Tyr4451Phe) c.10205A>T (p.Tyr3402Phe) c.9809A>T (p.Tyr3270Phe) | gnomAD v4 |
7 | g.152148608T>C | CA370091559 | KMT2C | c.1507A>G n.2451A>G c.13490A>G (p.Tyr4497Cys) n.2619A>G n.8511A>G c.3892A>G c.10829A>G (p.Tyr3610Cys) n.4949A>G c.3964A>G n.2085A>G n.2035A>G c.1736A>G (p.Tyr579Cys) c.8216A>G (p.Tyr2739Cys) n.77A>G c.13319A>G (p.Tyr4440Cys) c.9106A>G c.3961A>G c.3895A>G n.8030A>G c.8219A>G (p.Tyr2740Cys) c.12884A>G (p.Tyr4295Cys) c.3896A>G n.2334A>G c.6000A>G c.3170A>G (p.Tyr1057Cys) n.11201A>G c.*10839A>G (n.*10839A>G) c.13535A>G (p.Tyr4512Cys) c.13532A>G (p.Tyr4511Cys) c.13370A>G (p.Tyr4457Cys) c.13463A>G (p.Tyr4488Cys) c.13367A>G (p.Tyr4456Cys) c.13487A>G (p.Tyr4496Cys) c.13415A>G (p.Tyr4472Cys) c.13382A>G (p.Tyr4461Cys) c.13298A>G (p.Tyr4433Cys) c.12620A>G (p.Tyr4207Cys) c.11081A>G (p.Tyr3694Cys) c.13502A>G (p.Tyr4501Cys) c.13484A>G (p.Tyr4495Cys) c.13460A>G (p.Tyr4487Cys) c.13388A>G (p.Tyr4463Cys) c.13352A>G (p.Tyr4451Cys) c.10205A>G (p.Tyr3402Cys) c.9809A>G (p.Tyr3270Cys) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.152148608T>G | CA370091560 | KMT2C | c.1507A>C n.2451A>C c.13490A>C (p.Tyr4497Ser) n.2619A>C n.8511A>C c.3892A>C c.10829A>C (p.Tyr3610Ser) n.4949A>C c.3964A>C n.2085A>C n.2035A>C c.1736A>C (p.Tyr579Ser) c.8216A>C (p.Tyr2739Ser) n.77A>C c.13319A>C (p.Tyr4440Ser) c.9106A>C c.3961A>C c.3895A>C n.8030A>C c.8219A>C (p.Tyr2740Ser) c.12884A>C (p.Tyr4295Ser) c.3896A>C n.2334A>C c.6000A>C c.3170A>C (p.Tyr1057Ser) n.11201A>C c.*10839A>C (n.*10839A>C) c.13535A>C (p.Tyr4512Ser) c.13532A>C (p.Tyr4511Ser) c.13370A>C (p.Tyr4457Ser) c.13463A>C (p.Tyr4488Ser) c.13367A>C (p.Tyr4456Ser) c.13487A>C (p.Tyr4496Ser) c.13415A>C (p.Tyr4472Ser) c.13382A>C (p.Tyr4461Ser) c.13298A>C (p.Tyr4433Ser) c.12620A>C (p.Tyr4207Ser) c.11081A>C (p.Tyr3694Ser) c.13502A>C (p.Tyr4501Ser) c.13484A>C (p.Tyr4495Ser) c.13460A>C (p.Tyr4487Ser) c.13388A>C (p.Tyr4463Ser) c.13352A>C (p.Tyr4451Ser) c.10205A>C (p.Tyr3402Ser) c.9809A>C (p.Tyr3270Ser) | |
7 | g.152148608T= | CA1752986023 | KMT2C | c.1507A= n.2451A= c.13490A= (p.Tyr4497=) n.2619A= n.8511A= c.3892A= c.10829A= (p.Tyr3610=) n.4949A= c.3964A= n.2085A= n.2035A= c.1736A= (p.Tyr579=) c.8216A= (p.Tyr2739=) n.77A= c.13319A= (p.Tyr4440=) c.9106A= c.3961A= c.3895A= n.8030A= c.8219A= (p.Tyr2740=) c.12884A= (p.Tyr4295=) c.3896A= n.2334A= c.6000A= c.3170A= (p.Tyr1057=) n.11201A= c.*10839A= (n.*10839A=) c.13535A= (p.Tyr4512=) c.13532A= (p.Tyr4511=) c.13370A= (p.Tyr4457=) c.13463A= (p.Tyr4488=) c.13367A= (p.Tyr4456=) c.13487A= (p.Tyr4496=) c.13415A= (p.Tyr4472=) c.13382A= (p.Tyr4461=) c.13298A= (p.Tyr4433=) c.12620A= (p.Tyr4207=) c.11081A= (p.Tyr3694=) c.13502A= (p.Tyr4501=) c.13484A= (p.Tyr4495=) c.13460A= (p.Tyr4487=) c.13388A= (p.Tyr4463=) c.13352A= (p.Tyr4451=) c.10205A= (p.Tyr3402=) c.9809A= (p.Tyr3270=) | |
7 | g.152148609A>C | CA370091566 | KMT2C | c.1506T>G n.2450T>G c.13489T>G (p.Tyr4497Asp) n.2618T>G n.8510T>G c.3891T>G c.10828T>G (p.Tyr3610Asp) n.4948T>G c.3963T>G n.2084T>G n.2034T>G c.1735T>G (p.Tyr579Asp) c.8215T>G (p.Tyr2739Asp) n.76T>G c.13318T>G (p.Tyr4440Asp) c.9105T>G c.3960T>G c.3894T>G n.8029T>G c.8218T>G (p.Tyr2740Asp) c.12883T>G (p.Tyr4295Asp) c.3895T>G n.2333T>G c.5999T>G c.3169T>G (p.Tyr1057Asp) n.11200T>G c.*10838T>G (n.*10838T>G) c.13534T>G (p.Tyr4512Asp) c.13531T>G (p.Tyr4511Asp) c.13369T>G (p.Tyr4457Asp) c.13462T>G (p.Tyr4488Asp) c.13366T>G (p.Tyr4456Asp) c.13486T>G (p.Tyr4496Asp) c.13414T>G (p.Tyr4472Asp) c.13381T>G (p.Tyr4461Asp) c.13297T>G (p.Tyr4433Asp) c.12619T>G (p.Tyr4207Asp) c.11080T>G (p.Tyr3694Asp) c.13501T>G (p.Tyr4501Asp) c.13483T>G (p.Tyr4495Asp) c.13459T>G (p.Tyr4487Asp) c.13387T>G (p.Tyr4463Asp) c.13351T>G (p.Tyr4451Asp) c.10204T>G (p.Tyr3402Asp) c.9808T>G (p.Tyr3270Asp) | |
7 | g.152148609A>G | CA370091562 | KMT2C | c.1506T>C n.2450T>C c.13489T>C (p.Tyr4497His) n.2618T>C n.8510T>C c.3891T>C c.10828T>C (p.Tyr3610His) n.4948T>C c.3963T>C n.2084T>C n.2034T>C c.1735T>C (p.Tyr579His) c.8215T>C (p.Tyr2739His) n.76T>C c.13318T>C (p.Tyr4440His) c.9105T>C c.3960T>C c.3894T>C n.8029T>C c.8218T>C (p.Tyr2740His) c.12883T>C (p.Tyr4295His) c.3895T>C n.2333T>C c.5999T>C c.3169T>C (p.Tyr1057His) n.11200T>C c.*10838T>C (n.*10838T>C) c.13534T>C (p.Tyr4512His) c.13531T>C (p.Tyr4511His) c.13369T>C (p.Tyr4457His) c.13462T>C (p.Tyr4488His) c.13366T>C (p.Tyr4456His) c.13486T>C (p.Tyr4496His) c.13414T>C (p.Tyr4472His) c.13381T>C (p.Tyr4461His) c.13297T>C (p.Tyr4433His) c.12619T>C (p.Tyr4207His) c.11080T>C (p.Tyr3694His) c.13501T>C (p.Tyr4501His) c.13483T>C (p.Tyr4495His) c.13459T>C (p.Tyr4487His) c.13387T>C (p.Tyr4463His) c.13351T>C (p.Tyr4451His) c.10204T>C (p.Tyr3402His) c.9808T>C (p.Tyr3270His) | |
7 | g.152148609A>T | CA370091564 | KMT2C | c.1506T>A n.2450T>A c.13489T>A (p.Tyr4497Asn) n.2618T>A n.8510T>A c.3891T>A c.10828T>A (p.Tyr3610Asn) n.4948T>A c.3963T>A n.2084T>A n.2034T>A c.1735T>A (p.Tyr579Asn) c.8215T>A (p.Tyr2739Asn) n.76T>A c.13318T>A (p.Tyr4440Asn) c.9105T>A c.3960T>A c.3894T>A n.8029T>A c.8218T>A (p.Tyr2740Asn) c.12883T>A (p.Tyr4295Asn) c.3895T>A n.2333T>A c.5999T>A c.3169T>A (p.Tyr1057Asn) n.11200T>A c.*10838T>A (n.*10838T>A) c.13534T>A (p.Tyr4512Asn) c.13531T>A (p.Tyr4511Asn) c.13369T>A (p.Tyr4457Asn) c.13462T>A (p.Tyr4488Asn) c.13366T>A (p.Tyr4456Asn) c.13486T>A (p.Tyr4496Asn) c.13414T>A (p.Tyr4472Asn) c.13381T>A (p.Tyr4461Asn) c.13297T>A (p.Tyr4433Asn) c.12619T>A (p.Tyr4207Asn) c.11080T>A (p.Tyr3694Asn) c.13501T>A (p.Tyr4501Asn) c.13483T>A (p.Tyr4495Asn) c.13459T>A (p.Tyr4487Asn) c.13387T>A (p.Tyr4463Asn) c.13351T>A (p.Tyr4451Asn) c.10204T>A (p.Tyr3402Asn) c.9808T>A (p.Tyr3270Asn) | |
7 | g.152148610G>A | CA458884812 | KMT2C | c.1505C>T n.2449C>T c.13488C>T (p.Val4496=) n.2617C>T n.8509C>T c.3890C>T c.10827C>T (p.Val3609=) n.4947C>T c.3962C>T n.2083C>T n.2033C>T c.1734C>T (p.Val578=) c.8214C>T (p.Val2738=) n.75C>T c.13317C>T (p.Val4439=) c.9104C>T c.3959C>T c.3893C>T n.8028C>T c.8217C>T (p.Val2739=) c.12882C>T (p.Val4294=) c.3894C>T n.2332C>T c.5998C>T c.3168C>T (p.Val1056=) n.11199C>T c.*10837C>T (n.*10837C>T) c.13533C>T (p.Val4511=) c.13530C>T (p.Val4510=) c.13368C>T (p.Val4456=) c.13461C>T (p.Val4487=) c.13365C>T (p.Val4455=) c.13485C>T (p.Val4495=) c.13413C>T (p.Val4471=) c.13380C>T (p.Val4460=) c.13296C>T (p.Val4432=) c.12618C>T (p.Val4206=) c.11079C>T (p.Val3693=) c.13500C>T (p.Val4500=) c.13482C>T (p.Val4494=) c.13458C>T (p.Val4486=) c.13386C>T (p.Val4462=) c.13350C>T (p.Val4450=) c.10203C>T (p.Val3401=) c.9807C>T (p.Val3269=) | |
7 | g.152148610G>C | CA458884813 | KMT2C | c.1505C>G n.2449C>G c.13488C>G (p.Val4496=) n.2617C>G n.8509C>G c.3890C>G c.10827C>G (p.Val3609=) n.4947C>G c.3962C>G n.2083C>G n.2033C>G c.1734C>G (p.Val578=) c.8214C>G (p.Val2738=) n.75C>G c.13317C>G (p.Val4439=) c.9104C>G c.3959C>G c.3893C>G n.8028C>G c.8217C>G (p.Val2739=) c.12882C>G (p.Val4294=) c.3894C>G n.2332C>G c.5998C>G c.3168C>G (p.Val1056=) n.11199C>G c.*10837C>G (n.*10837C>G) c.13533C>G (p.Val4511=) c.13530C>G (p.Val4510=) c.13368C>G (p.Val4456=) c.13461C>G (p.Val4487=) c.13365C>G (p.Val4455=) c.13485C>G (p.Val4495=) c.13413C>G (p.Val4471=) c.13380C>G (p.Val4460=) c.13296C>G (p.Val4432=) c.12618C>G (p.Val4206=) c.11079C>G (p.Val3693=) c.13500C>G (p.Val4500=) c.13482C>G (p.Val4494=) c.13458C>G (p.Val4486=) c.13386C>G (p.Val4462=) c.13350C>G (p.Val4450=) c.10203C>G (p.Val3401=) c.9807C>G (p.Val3269=) | dbSNP |
7 | g.152148610G>T | CA458884814 | KMT2C | c.1505C>A n.2449C>A c.13488C>A (p.Val4496=) n.2617C>A n.8509C>A c.3890C>A c.10827C>A (p.Val3609=) n.4947C>A c.3962C>A n.2083C>A n.2033C>A c.1734C>A (p.Val578=) c.8214C>A (p.Val2738=) n.75C>A c.13317C>A (p.Val4439=) c.9104C>A c.3959C>A c.3893C>A n.8028C>A c.8217C>A (p.Val2739=) c.12882C>A (p.Val4294=) c.3894C>A n.2332C>A c.5998C>A c.3168C>A (p.Val1056=) n.11199C>A c.*10837C>A (n.*10837C>A) c.13533C>A (p.Val4511=) c.13530C>A (p.Val4510=) c.13368C>A (p.Val4456=) c.13461C>A (p.Val4487=) c.13365C>A (p.Val4455=) c.13485C>A (p.Val4495=) c.13413C>A (p.Val4471=) c.13380C>A (p.Val4460=) c.13296C>A (p.Val4432=) c.12618C>A (p.Val4206=) c.11079C>A (p.Val3693=) c.13500C>A (p.Val4500=) c.13482C>A (p.Val4494=) c.13458C>A (p.Val4486=) c.13386C>A (p.Val4462=) c.13350C>A (p.Val4450=) c.10203C>A (p.Val3401=) c.9807C>A (p.Val3269=) | |
7 | g.152148611A>C | CA370091567 | KMT2C | c.1504T>G n.2448T>G c.13487T>G (p.Val4496Gly) n.2616T>G n.8508T>G c.3889T>G c.10826T>G (p.Val3609Gly) n.4946T>G c.3961T>G n.2082T>G n.2032T>G c.1733T>G (p.Val578Gly) c.8213T>G (p.Val2738Gly) n.74T>G c.13316T>G (p.Val4439Gly) c.9103T>G c.3958T>G c.3892T>G n.8027T>G c.8216T>G (p.Val2739Gly) c.12881T>G (p.Val4294Gly) c.3893T>G n.2331T>G c.5997T>G c.3167T>G (p.Val1056Gly) n.11198T>G c.*10836T>G (n.*10836T>G) c.13532T>G (p.Val4511Gly) c.13529T>G (p.Val4510Gly) c.13367T>G (p.Val4456Gly) c.13460T>G (p.Val4487Gly) c.13364T>G (p.Val4455Gly) c.13484T>G (p.Val4495Gly) c.13412T>G (p.Val4471Gly) c.13379T>G (p.Val4460Gly) c.13295T>G (p.Val4432Gly) c.12617T>G (p.Val4206Gly) c.11078T>G (p.Val3693Gly) c.13499T>G (p.Val4500Gly) c.13481T>G (p.Val4494Gly) c.13457T>G (p.Val4486Gly) c.13385T>G (p.Val4462Gly) c.13349T>G (p.Val4450Gly) c.10202T>G (p.Val3401Gly) c.9806T>G (p.Val3269Gly) | |
7 | g.152148611A>G | CA370091568 | KMT2C | c.1504T>C n.2448T>C c.13487T>C (p.Val4496Ala) n.2616T>C n.8508T>C c.3889T>C c.10826T>C (p.Val3609Ala) n.4946T>C c.3961T>C n.2082T>C n.2032T>C c.1733T>C (p.Val578Ala) c.8213T>C (p.Val2738Ala) n.74T>C c.13316T>C (p.Val4439Ala) c.9103T>C c.3958T>C c.3892T>C n.8027T>C c.8216T>C (p.Val2739Ala) c.12881T>C (p.Val4294Ala) c.3893T>C n.2331T>C c.5997T>C c.3167T>C (p.Val1056Ala) n.11198T>C c.*10836T>C (n.*10836T>C) c.13532T>C (p.Val4511Ala) c.13529T>C (p.Val4510Ala) c.13367T>C (p.Val4456Ala) c.13460T>C (p.Val4487Ala) c.13364T>C (p.Val4455Ala) c.13484T>C (p.Val4495Ala) c.13412T>C (p.Val4471Ala) c.13379T>C (p.Val4460Ala) c.13295T>C (p.Val4432Ala) c.12617T>C (p.Val4206Ala) c.11078T>C (p.Val3693Ala) c.13499T>C (p.Val4500Ala) c.13481T>C (p.Val4494Ala) c.13457T>C (p.Val4486Ala) c.13385T>C (p.Val4462Ala) c.13349T>C (p.Val4450Ala) c.10202T>C (p.Val3401Ala) c.9806T>C (p.Val3269Ala) | |
7 | g.152148611A>T | CA370091570 | KMT2C | c.1504T>A n.2448T>A c.13487T>A (p.Val4496Asp) n.2616T>A n.8508T>A c.3889T>A c.10826T>A (p.Val3609Asp) n.4946T>A c.3961T>A n.2082T>A n.2032T>A c.1733T>A (p.Val578Asp) c.8213T>A (p.Val2738Asp) n.74T>A c.13316T>A (p.Val4439Asp) c.9103T>A c.3958T>A c.3892T>A n.8027T>A c.8216T>A (p.Val2739Asp) c.12881T>A (p.Val4294Asp) c.3893T>A n.2331T>A c.5997T>A c.3167T>A (p.Val1056Asp) n.11198T>A c.*10836T>A (n.*10836T>A) c.13532T>A (p.Val4511Asp) c.13529T>A (p.Val4510Asp) c.13367T>A (p.Val4456Asp) c.13460T>A (p.Val4487Asp) c.13364T>A (p.Val4455Asp) c.13484T>A (p.Val4495Asp) c.13412T>A (p.Val4471Asp) c.13379T>A (p.Val4460Asp) c.13295T>A (p.Val4432Asp) c.12617T>A (p.Val4206Asp) c.11078T>A (p.Val3693Asp) c.13499T>A (p.Val4500Asp) c.13481T>A (p.Val4494Asp) c.13457T>A (p.Val4486Asp) c.13385T>A (p.Val4462Asp) c.13349T>A (p.Val4450Asp) c.10202T>A (p.Val3401Asp) c.9806T>A (p.Val3269Asp) | |
7 | g.152148612C>A | CA370091572 | KMT2C | c.1503G>T n.2447G>T c.13486G>T (p.Val4496Phe) n.2615G>T n.8507G>T c.3888G>T c.10825G>T (p.Val3609Phe) n.4945G>T c.3960G>T n.2081G>T n.2031G>T c.1732G>T (p.Val578Phe) c.8212G>T (p.Val2738Phe) n.73G>T c.13315G>T (p.Val4439Phe) c.9102G>T c.3957G>T c.3891G>T n.8026G>T c.8215G>T (p.Val2739Phe) c.12880G>T (p.Val4294Phe) c.3892G>T n.2330G>T c.5996G>T c.3166G>T (p.Val1056Phe) n.11197G>T c.*10835G>T (n.*10835G>T) c.13531G>T (p.Val4511Phe) c.13528G>T (p.Val4510Phe) c.13366G>T (p.Val4456Phe) c.13459G>T (p.Val4487Phe) c.13363G>T (p.Val4455Phe) c.13483G>T (p.Val4495Phe) c.13411G>T (p.Val4471Phe) c.13378G>T (p.Val4460Phe) c.13294G>T (p.Val4432Phe) c.12616G>T (p.Val4206Phe) c.11077G>T (p.Val3693Phe) c.13498G>T (p.Val4500Phe) c.13480G>T (p.Val4494Phe) c.13456G>T (p.Val4486Phe) c.13384G>T (p.Val4462Phe) c.13348G>T (p.Val4450Phe) c.10201G>T (p.Val3401Phe) c.9805G>T (p.Val3269Phe) | dbSNP |
7 | g.152148612C>G | CA370091574 | KMT2C | c.1503G>C n.2447G>C c.13486G>C (p.Val4496Leu) n.2615G>C n.8507G>C c.3888G>C c.10825G>C (p.Val3609Leu) n.4945G>C c.3960G>C n.2081G>C n.2031G>C c.1732G>C (p.Val578Leu) c.8212G>C (p.Val2738Leu) n.73G>C c.13315G>C (p.Val4439Leu) c.9102G>C c.3957G>C c.3891G>C n.8026G>C c.8215G>C (p.Val2739Leu) c.12880G>C (p.Val4294Leu) c.3892G>C n.2330G>C c.5996G>C c.3166G>C (p.Val1056Leu) n.11197G>C c.*10835G>C (n.*10835G>C) c.13531G>C (p.Val4511Leu) c.13528G>C (p.Val4510Leu) c.13366G>C (p.Val4456Leu) c.13459G>C (p.Val4487Leu) c.13363G>C (p.Val4455Leu) c.13483G>C (p.Val4495Leu) c.13411G>C (p.Val4471Leu) c.13378G>C (p.Val4460Leu) c.13294G>C (p.Val4432Leu) c.12616G>C (p.Val4206Leu) c.11077G>C (p.Val3693Leu) c.13498G>C (p.Val4500Leu) c.13480G>C (p.Val4494Leu) c.13456G>C (p.Val4486Leu) c.13384G>C (p.Val4462Leu) c.13348G>C (p.Val4450Leu) c.10201G>C (p.Val3401Leu) c.9805G>C (p.Val3269Leu) | |
7 | g.152148612C>T | CA370091575 | KMT2C | c.1503G>A n.2447G>A c.13486G>A (p.Val4496Ile) n.2615G>A n.8507G>A c.3888G>A c.10825G>A (p.Val3609Ile) n.4945G>A c.3960G>A n.2081G>A n.2031G>A c.1732G>A (p.Val578Ile) c.8212G>A (p.Val2738Ile) n.73G>A c.13315G>A (p.Val4439Ile) c.9102G>A c.3957G>A c.3891G>A n.8026G>A c.8215G>A (p.Val2739Ile) c.12880G>A (p.Val4294Ile) c.3892G>A n.2330G>A c.5996G>A c.3166G>A (p.Val1056Ile) n.11197G>A c.*10835G>A (n.*10835G>A) c.13531G>A (p.Val4511Ile) c.13528G>A (p.Val4510Ile) c.13366G>A (p.Val4456Ile) c.13459G>A (p.Val4487Ile) c.13363G>A (p.Val4455Ile) c.13483G>A (p.Val4495Ile) c.13411G>A (p.Val4471Ile) c.13378G>A (p.Val4460Ile) c.13294G>A (p.Val4432Ile) c.12616G>A (p.Val4206Ile) c.11077G>A (p.Val3693Ile) c.13498G>A (p.Val4500Ile) c.13480G>A (p.Val4494Ile) c.13456G>A (p.Val4486Ile) c.13384G>A (p.Val4462Ile) c.13348G>A (p.Val4450Ile) c.10201G>A (p.Val3401Ile) c.9805G>A (p.Val3269Ile) | dbSNP |
7 | g.152148613C>A | CA370091577 | KMT2C | c.1502G>T n.2446G>T c.13485G>T (p.Glu4495Asp) n.2614G>T n.8506G>T c.3887G>T c.10824G>T (p.Glu3608Asp) n.4944G>T c.3959G>T n.2080G>T n.2030G>T c.1731G>T (p.Glu577Asp) c.8211G>T (p.Glu2737Asp) n.72G>T c.13314G>T (p.Glu4438Asp) c.9101G>T c.3956G>T c.3890G>T n.8025G>T c.8214G>T (p.Glu2738Asp) c.12879G>T (p.Glu4293Asp) c.3891G>T n.2329G>T c.5995G>T c.3165G>T (p.Glu1055Asp) n.11196G>T c.*10834G>T (n.*10834G>T) c.13530G>T (p.Glu4510Asp) c.13527G>T (p.Glu4509Asp) c.13365G>T (p.Glu4455Asp) c.13458G>T (p.Glu4486Asp) c.13362G>T (p.Glu4454Asp) c.13482G>T (p.Glu4494Asp) c.13410G>T (p.Glu4470Asp) c.13377G>T (p.Glu4459Asp) c.13293G>T (p.Glu4431Asp) c.12615G>T (p.Glu4205Asp) c.11076G>T (p.Glu3692Asp) c.13497G>T (p.Glu4499Asp) c.13479G>T (p.Glu4493Asp) c.13455G>T (p.Glu4485Asp) c.13383G>T (p.Glu4461Asp) c.13347G>T (p.Glu4449Asp) c.10200G>T (p.Glu3400Asp) c.9804G>T (p.Glu3268Asp) | |
7 | g.152148613C>G | CA370091579 | KMT2C | c.1502G>C n.2446G>C c.13485G>C (p.Glu4495Asp) n.2614G>C n.8506G>C c.3887G>C c.10824G>C (p.Glu3608Asp) n.4944G>C c.3959G>C n.2080G>C n.2030G>C c.1731G>C (p.Glu577Asp) c.8211G>C (p.Glu2737Asp) n.72G>C c.13314G>C (p.Glu4438Asp) c.9101G>C c.3956G>C c.3890G>C n.8025G>C c.8214G>C (p.Glu2738Asp) c.12879G>C (p.Glu4293Asp) c.3891G>C n.2329G>C c.5995G>C c.3165G>C (p.Glu1055Asp) n.11196G>C c.*10834G>C (n.*10834G>C) c.13530G>C (p.Glu4510Asp) c.13527G>C (p.Glu4509Asp) c.13365G>C (p.Glu4455Asp) c.13458G>C (p.Glu4486Asp) c.13362G>C (p.Glu4454Asp) c.13482G>C (p.Glu4494Asp) c.13410G>C (p.Glu4470Asp) c.13377G>C (p.Glu4459Asp) c.13293G>C (p.Glu4431Asp) c.12615G>C (p.Glu4205Asp) c.11076G>C (p.Glu3692Asp) c.13497G>C (p.Glu4499Asp) c.13479G>C (p.Glu4493Asp) c.13455G>C (p.Glu4485Asp) c.13383G>C (p.Glu4461Asp) c.13347G>C (p.Glu4449Asp) c.10200G>C (p.Glu3400Asp) c.9804G>C (p.Glu3268Asp) | |
7 | g.152148613C>T | CA458884819 | KMT2C | c.1502G>A n.2446G>A c.13485G>A (p.Glu4495=) n.2614G>A n.8506G>A c.3887G>A c.10824G>A (p.Glu3608=) n.4944G>A c.3959G>A n.2080G>A n.2030G>A c.1731G>A (p.Glu577=) c.8211G>A (p.Glu2737=) n.72G>A c.13314G>A (p.Glu4438=) c.9101G>A c.3956G>A c.3890G>A n.8025G>A c.8214G>A (p.Glu2738=) c.12879G>A (p.Glu4293=) c.3891G>A n.2329G>A c.5995G>A c.3165G>A (p.Glu1055=) n.11196G>A c.*10834G>A (n.*10834G>A) c.13530G>A (p.Glu4510=) c.13527G>A (p.Glu4509=) c.13365G>A (p.Glu4455=) c.13458G>A (p.Glu4486=) c.13362G>A (p.Glu4454=) c.13482G>A (p.Glu4494=) c.13410G>A (p.Glu4470=) c.13377G>A (p.Glu4459=) c.13293G>A (p.Glu4431=) c.12615G>A (p.Glu4205=) c.11076G>A (p.Glu3692=) c.13497G>A (p.Glu4499=) c.13479G>A (p.Glu4493=) c.13455G>A (p.Glu4485=) c.13383G>A (p.Glu4461=) c.13347G>A (p.Glu4449=) c.10200G>A (p.Glu3400=) c.9804G>A (p.Glu3268=) | dbSNP |
7 | g.152148614T>A | CA370091581 | KMT2C | c.1501A>T n.2445A>T c.13484A>T (p.Glu4495Val) n.2613A>T n.8505A>T c.3886A>T c.10823A>T (p.Glu3608Val) n.4943A>T c.3958A>T n.2079A>T n.2029A>T c.1730A>T (p.Glu577Val) c.8210A>T (p.Glu2737Val) n.71A>T c.13313A>T (p.Glu4438Val) c.9100A>T c.3955A>T c.3889A>T n.8024A>T c.8213A>T (p.Glu2738Val) c.12878A>T (p.Glu4293Val) c.3890A>T n.2328A>T c.5994A>T c.3164A>T (p.Glu1055Val) n.11195A>T c.*10833A>T (n.*10833A>T) c.13529A>T (p.Glu4510Val) c.13526A>T (p.Glu4509Val) c.13364A>T (p.Glu4455Val) c.13457A>T (p.Glu4486Val) c.13361A>T (p.Glu4454Val) c.13481A>T (p.Glu4494Val) c.13409A>T (p.Glu4470Val) c.13376A>T (p.Glu4459Val) c.13292A>T (p.Glu4431Val) c.12614A>T (p.Glu4205Val) c.11075A>T (p.Glu3692Val) c.13496A>T (p.Glu4499Val) c.13478A>T (p.Glu4493Val) c.13454A>T (p.Glu4485Val) c.13382A>T (p.Glu4461Val) c.13346A>T (p.Glu4449Val) c.10199A>T (p.Glu3400Val) c.9803A>T (p.Glu3268Val) | |
7 | g.152148614T>C | CA370091582 | KMT2C | c.1501A>G n.2445A>G c.13484A>G (p.Glu4495Gly) n.2613A>G n.8505A>G c.3886A>G c.10823A>G (p.Glu3608Gly) n.4943A>G c.3958A>G n.2079A>G n.2029A>G c.1730A>G (p.Glu577Gly) c.8210A>G (p.Glu2737Gly) n.71A>G c.13313A>G (p.Glu4438Gly) c.9100A>G c.3955A>G c.3889A>G n.8024A>G c.8213A>G (p.Glu2738Gly) c.12878A>G (p.Glu4293Gly) c.3890A>G n.2328A>G c.5994A>G c.3164A>G (p.Glu1055Gly) n.11195A>G c.*10833A>G (n.*10833A>G) c.13529A>G (p.Glu4510Gly) c.13526A>G (p.Glu4509Gly) c.13364A>G (p.Glu4455Gly) c.13457A>G (p.Glu4486Gly) c.13361A>G (p.Glu4454Gly) c.13481A>G (p.Glu4494Gly) c.13409A>G (p.Glu4470Gly) c.13376A>G (p.Glu4459Gly) c.13292A>G (p.Glu4431Gly) c.12614A>G (p.Glu4205Gly) c.11075A>G (p.Glu3692Gly) c.13496A>G (p.Glu4499Gly) c.13478A>G (p.Glu4493Gly) c.13454A>G (p.Glu4485Gly) c.13382A>G (p.Glu4461Gly) c.13346A>G (p.Glu4449Gly) c.10199A>G (p.Glu3400Gly) c.9803A>G (p.Glu3268Gly) | dbSNP |
7 | g.152148614T>G | CA370091584 | KMT2C | c.1501A>C n.2445A>C c.13484A>C (p.Glu4495Ala) n.2613A>C n.8505A>C c.3886A>C c.10823A>C (p.Glu3608Ala) n.4943A>C c.3958A>C n.2079A>C n.2029A>C c.1730A>C (p.Glu577Ala) c.8210A>C (p.Glu2737Ala) n.71A>C c.13313A>C (p.Glu4438Ala) c.9100A>C c.3955A>C c.3889A>C n.8024A>C c.8213A>C (p.Glu2738Ala) c.12878A>C (p.Glu4293Ala) c.3890A>C n.2328A>C c.5994A>C c.3164A>C (p.Glu1055Ala) n.11195A>C c.*10833A>C (n.*10833A>C) c.13529A>C (p.Glu4510Ala) c.13526A>C (p.Glu4509Ala) c.13364A>C (p.Glu4455Ala) c.13457A>C (p.Glu4486Ala) c.13361A>C (p.Glu4454Ala) c.13481A>C (p.Glu4494Ala) c.13409A>C (p.Glu4470Ala) c.13376A>C (p.Glu4459Ala) c.13292A>C (p.Glu4431Ala) c.12614A>C (p.Glu4205Ala) c.11075A>C (p.Glu3692Ala) c.13496A>C (p.Glu4499Ala) c.13478A>C (p.Glu4493Ala) c.13454A>C (p.Glu4485Ala) c.13382A>C (p.Glu4461Ala) c.13346A>C (p.Glu4449Ala) c.10199A>C (p.Glu3400Ala) c.9803A>C (p.Glu3268Ala) | |
7 | g.152148615C>A | CA370091587 | KMT2C | c.1500G>T n.2444G>T c.13483G>T (p.Glu4495Ter) n.2612G>T n.8504G>T c.3885G>T c.10822G>T (p.Glu3608Ter) n.4942G>T c.3957G>T n.2078G>T n.2028G>T c.1729G>T (p.Glu577Ter) c.8209G>T (p.Glu2737Ter) n.70G>T c.13312G>T (p.Glu4438Ter) c.9099G>T c.3954G>T c.3888G>T n.8023G>T c.8212G>T (p.Glu2738Ter) c.12877G>T (p.Glu4293Ter) c.3889G>T n.2327G>T c.5993G>T c.3163G>T (p.Glu1055Ter) n.11194G>T c.*10832G>T (n.*10832G>T) c.13528G>T (p.Glu4510Ter) c.13525G>T (p.Glu4509Ter) c.13363G>T (p.Glu4455Ter) c.13456G>T (p.Glu4486Ter) c.13360G>T (p.Glu4454Ter) c.13480G>T (p.Glu4494Ter) c.13408G>T (p.Glu4470Ter) c.13375G>T (p.Glu4459Ter) c.13291G>T (p.Glu4431Ter) c.12613G>T (p.Glu4205Ter) c.11074G>T (p.Glu3692Ter) c.13495G>T (p.Glu4499Ter) c.13477G>T (p.Glu4493Ter) c.13453G>T (p.Glu4485Ter) c.13381G>T (p.Glu4461Ter) c.13345G>T (p.Glu4449Ter) c.10198G>T (p.Glu3400Ter) c.9802G>T (p.Glu3268Ter) | |
7 | g.152148615C>G | CA370091589 | KMT2C | c.1500G>C n.2444G>C c.13483G>C (p.Glu4495Gln) n.2612G>C n.8504G>C c.3885G>C c.10822G>C (p.Glu3608Gln) n.4942G>C c.3957G>C n.2078G>C n.2028G>C c.1729G>C (p.Glu577Gln) c.8209G>C (p.Glu2737Gln) n.70G>C c.13312G>C (p.Glu4438Gln) c.9099G>C c.3954G>C c.3888G>C n.8023G>C c.8212G>C (p.Glu2738Gln) c.12877G>C (p.Glu4293Gln) c.3889G>C n.2327G>C c.5993G>C c.3163G>C (p.Glu1055Gln) n.11194G>C c.*10832G>C (n.*10832G>C) c.13528G>C (p.Glu4510Gln) c.13525G>C (p.Glu4509Gln) c.13363G>C (p.Glu4455Gln) c.13456G>C (p.Glu4486Gln) c.13360G>C (p.Glu4454Gln) c.13480G>C (p.Glu4494Gln) c.13408G>C (p.Glu4470Gln) c.13375G>C (p.Glu4459Gln) c.13291G>C (p.Glu4431Gln) c.12613G>C (p.Glu4205Gln) c.11074G>C (p.Glu3692Gln) c.13495G>C (p.Glu4499Gln) c.13477G>C (p.Glu4493Gln) c.13453G>C (p.Glu4485Gln) c.13381G>C (p.Glu4461Gln) c.13345G>C (p.Glu4449Gln) c.10198G>C (p.Glu3400Gln) c.9802G>C (p.Glu3268Gln) | |
7 | g.152148615C>T | CA370091586 | KMT2C | c.1500G>A n.2444G>A c.13483G>A (p.Glu4495Lys) n.2612G>A n.8504G>A c.3885G>A c.10822G>A (p.Glu3608Lys) n.4942G>A c.3957G>A n.2078G>A n.2028G>A c.1729G>A (p.Glu577Lys) c.8209G>A (p.Glu2737Lys) n.70G>A c.13312G>A (p.Glu4438Lys) c.9099G>A c.3954G>A c.3888G>A n.8023G>A c.8212G>A (p.Glu2738Lys) c.12877G>A (p.Glu4293Lys) c.3889G>A n.2327G>A c.5993G>A c.3163G>A (p.Glu1055Lys) n.11194G>A c.*10832G>A (n.*10832G>A) c.13528G>A (p.Glu4510Lys) c.13525G>A (p.Glu4509Lys) c.13363G>A (p.Glu4455Lys) c.13456G>A (p.Glu4486Lys) c.13360G>A (p.Glu4454Lys) c.13480G>A (p.Glu4494Lys) c.13408G>A (p.Glu4470Lys) c.13375G>A (p.Glu4459Lys) c.13291G>A (p.Glu4431Lys) c.12613G>A (p.Glu4205Lys) c.11074G>A (p.Glu3692Lys) c.13495G>A (p.Glu4499Lys) c.13477G>A (p.Glu4493Lys) c.13453G>A (p.Glu4485Lys) c.13381G>A (p.Glu4461Lys) c.13345G>A (p.Glu4449Lys) c.10198G>A (p.Glu3400Lys) c.9802G>A (p.Glu3268Lys) | |
7 | g.152148616C>A | CA458884827 | KMT2C | c.1499G>T n.2443G>T c.13482G>T (p.Thr4494=) n.2611G>T n.8503G>T c.3884G>T c.10821G>T (p.Thr3607=) n.4941G>T c.3956G>T n.2077G>T n.2027G>T c.1728G>T (p.Thr576=) c.8208G>T (p.Thr2736=) n.69G>T c.13311G>T (p.Thr4437=) c.9098G>T c.3953G>T c.3887G>T n.8022G>T c.8211G>T (p.Thr2737=) c.12876G>T (p.Thr4292=) c.3888G>T n.2326G>T c.5992G>T c.3162G>T (p.Thr1054=) n.11193G>T c.*10831G>T (n.*10831G>T) c.13527G>T (p.Thr4509=) c.13524G>T (p.Thr4508=) c.13362G>T (p.Thr4454=) c.13455G>T (p.Thr4485=) c.13359G>T (p.Thr4453=) c.13479G>T (p.Thr4493=) c.13407G>T (p.Thr4469=) c.13374G>T (p.Thr4458=) c.13290G>T (p.Thr4430=) c.12612G>T (p.Thr4204=) c.11073G>T (p.Thr3691=) c.13494G>T (p.Thr4498=) c.13476G>T (p.Thr4492=) c.13452G>T (p.Thr4484=) c.13380G>T (p.Thr4460=) c.13344G>T (p.Thr4448=) c.10197G>T (p.Thr3399=) c.9801G>T (p.Thr3267=) | |
7 | g.152148616C= | CA1752986028 | KMT2C | c.1499G= n.2443G= c.13482G= (p.Thr4494=) n.2611G= n.8503G= c.3884G= c.10821G= (p.Thr3607=) n.4941G= c.3956G= n.2077G= n.2027G= c.1728G= (p.Thr576=) c.8208G= (p.Thr2736=) n.69G= c.13311G= (p.Thr4437=) c.9098G= c.3953G= c.3887G= n.8022G= c.8211G= (p.Thr2737=) c.12876G= (p.Thr4292=) c.3888G= n.2326G= c.5992G= c.3162G= (p.Thr1054=) n.11193G= c.*10831G= (n.*10831G=) c.13527G= (p.Thr4509=) c.13524G= (p.Thr4508=) c.13362G= (p.Thr4454=) c.13455G= (p.Thr4485=) c.13359G= (p.Thr4453=) c.13479G= (p.Thr4493=) c.13407G= (p.Thr4469=) c.13374G= (p.Thr4458=) c.13290G= (p.Thr4430=) c.12612G= (p.Thr4204=) c.11073G= (p.Thr3691=) c.13494G= (p.Thr4498=) c.13476G= (p.Thr4492=) c.13452G= (p.Thr4484=) c.13380G= (p.Thr4460=) c.13344G= (p.Thr4448=) c.10197G= (p.Thr3399=) c.9801G= (p.Thr3267=) | |
7 | g.152148616C>G | CA458884828 | KMT2C | c.1499G>C n.2443G>C c.13482G>C (p.Thr4494=) n.2611G>C n.8503G>C c.3884G>C c.10821G>C (p.Thr3607=) n.4941G>C c.3956G>C n.2077G>C n.2027G>C c.1728G>C (p.Thr576=) c.8208G>C (p.Thr2736=) n.69G>C c.13311G>C (p.Thr4437=) c.9098G>C c.3953G>C c.3887G>C n.8022G>C c.8211G>C (p.Thr2737=) c.12876G>C (p.Thr4292=) c.3888G>C n.2326G>C c.5992G>C c.3162G>C (p.Thr1054=) n.11193G>C c.*10831G>C (n.*10831G>C) c.13527G>C (p.Thr4509=) c.13524G>C (p.Thr4508=) c.13362G>C (p.Thr4454=) c.13455G>C (p.Thr4485=) c.13359G>C (p.Thr4453=) c.13479G>C (p.Thr4493=) c.13407G>C (p.Thr4469=) c.13374G>C (p.Thr4458=) c.13290G>C (p.Thr4430=) c.12612G>C (p.Thr4204=) c.11073G>C (p.Thr3691=) c.13494G>C (p.Thr4498=) c.13476G>C (p.Thr4492=) c.13452G>C (p.Thr4484=) c.13380G>C (p.Thr4460=) c.13344G>C (p.Thr4448=) c.10197G>C (p.Thr3399=) c.9801G>C (p.Thr3267=) | |
7 | g.152148616C>T | CA4578642 | KMT2C | c.1499G>A n.2443G>A c.13482G>A (p.Thr4494=) n.2611G>A n.8503G>A c.3884G>A c.10821G>A (p.Thr3607=) n.4941G>A c.3956G>A n.2077G>A n.2027G>A c.1728G>A (p.Thr576=) c.8208G>A (p.Thr2736=) n.69G>A c.13311G>A (p.Thr4437=) c.9098G>A c.3953G>A c.3887G>A n.8022G>A c.8211G>A (p.Thr2737=) c.12876G>A (p.Thr4292=) c.3888G>A n.2326G>A c.5992G>A c.3162G>A (p.Thr1054=) n.11193G>A c.*10831G>A (n.*10831G>A) c.13527G>A (p.Thr4509=) c.13524G>A (p.Thr4508=) c.13362G>A (p.Thr4454=) c.13455G>A (p.Thr4485=) c.13359G>A (p.Thr4453=) c.13479G>A (p.Thr4493=) c.13407G>A (p.Thr4469=) c.13374G>A (p.Thr4458=) c.13290G>A (p.Thr4430=) c.12612G>A (p.Thr4204=) c.11073G>A (p.Thr3691=) c.13494G>A (p.Thr4498=) c.13476G>A (p.Thr4492=) c.13452G>A (p.Thr4484=) c.13380G>A (p.Thr4460=) c.13344G>A (p.Thr4448=) c.10197G>A (p.Thr3399=) c.9801G>A (p.Thr3267=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.152148617G>A | CA4578643 | KMT2C | c.1498C>T n.2442C>T c.13481C>T (p.Thr4494Met) n.2610C>T n.8502C>T c.3883C>T c.10820C>T (p.Thr3607Met) n.4940C>T c.3955C>T n.2076C>T n.2026C>T c.1727C>T (p.Thr576Met) c.8207C>T (p.Thr2736Met) n.68C>T c.13310C>T (p.Thr4437Met) c.9097C>T c.3952C>T c.3886C>T n.8021C>T c.8210C>T (p.Thr2737Met) c.12875C>T (p.Thr4292Met) c.3887C>T n.2325C>T c.5991C>T c.3161C>T (p.Thr1054Met) n.11192C>T c.*10830C>T (n.*10830C>T) c.13526C>T (p.Thr4509Met) c.13523C>T (p.Thr4508Met) c.13361C>T (p.Thr4454Met) c.13454C>T (p.Thr4485Met) c.13358C>T (p.Thr4453Met) c.13478C>T (p.Thr4493Met) c.13406C>T (p.Thr4469Met) c.13373C>T (p.Thr4458Met) c.13289C>T (p.Thr4430Met) c.12611C>T (p.Thr4204Met) c.11072C>T (p.Thr3691Met) c.13493C>T (p.Thr4498Met) c.13475C>T (p.Thr4492Met) c.13451C>T (p.Thr4484Met) c.13379C>T (p.Thr4460Met) c.13343C>T (p.Thr4448Met) c.10196C>T (p.Thr3399Met) c.9800C>T (p.Thr3267Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.152148617G>C | CA370091593 | KMT2C | c.1498C>G n.2442C>G c.13481C>G (p.Thr4494Arg) n.2610C>G n.8502C>G c.3883C>G c.10820C>G (p.Thr3607Arg) n.4940C>G c.3955C>G n.2076C>G n.2026C>G c.1727C>G (p.Thr576Arg) c.8207C>G (p.Thr2736Arg) n.68C>G c.13310C>G (p.Thr4437Arg) c.9097C>G c.3952C>G c.3886C>G n.8021C>G c.8210C>G (p.Thr2737Arg) c.12875C>G (p.Thr4292Arg) c.3887C>G n.2325C>G c.5991C>G c.3161C>G (p.Thr1054Arg) n.11192C>G c.*10830C>G (n.*10830C>G) c.13526C>G (p.Thr4509Arg) c.13523C>G (p.Thr4508Arg) c.13361C>G (p.Thr4454Arg) c.13454C>G (p.Thr4485Arg) c.13358C>G (p.Thr4453Arg) c.13478C>G (p.Thr4493Arg) c.13406C>G (p.Thr4469Arg) c.13373C>G (p.Thr4458Arg) c.13289C>G (p.Thr4430Arg) c.12611C>G (p.Thr4204Arg) c.11072C>G (p.Thr3691Arg) c.13493C>G (p.Thr4498Arg) c.13475C>G (p.Thr4492Arg) c.13451C>G (p.Thr4484Arg) c.13379C>G (p.Thr4460Arg) c.13343C>G (p.Thr4448Arg) c.10196C>G (p.Thr3399Arg) c.9800C>G (p.Thr3267Arg) | |
7 | g.152148617G= | CA1752986030 | KMT2C | c.1498C= n.2442C= c.13481C= (p.Thr4494=) n.2610C= n.8502C= c.3883C= c.10820C= (p.Thr3607=) n.4940C= c.3955C= n.2076C= n.2026C= c.1727C= (p.Thr576=) c.8207C= (p.Thr2736=) n.68C= c.13310C= (p.Thr4437=) c.9097C= c.3952C= c.3886C= n.8021C= c.8210C= (p.Thr2737=) c.12875C= (p.Thr4292=) c.3887C= n.2325C= c.5991C= c.3161C= (p.Thr1054=) n.11192C= c.*10830C= (n.*10830C=) c.13526C= (p.Thr4509=) c.13523C= (p.Thr4508=) c.13361C= (p.Thr4454=) c.13454C= (p.Thr4485=) c.13358C= (p.Thr4453=) c.13478C= (p.Thr4493=) c.13406C= (p.Thr4469=) c.13373C= (p.Thr4458=) c.13289C= (p.Thr4430=) c.12611C= (p.Thr4204=) c.11072C= (p.Thr3691=) c.13493C= (p.Thr4498=) c.13475C= (p.Thr4492=) c.13451C= (p.Thr4484=) c.13379C= (p.Thr4460=) c.13343C= (p.Thr4448=) c.10196C= (p.Thr3399=) c.9800C= (p.Thr3267=) | |
7 | g.152148617G>T | CA370091595 | KMT2C | c.1498C>A n.2442C>A c.13481C>A (p.Thr4494Lys) n.2610C>A n.8502C>A c.3883C>A c.10820C>A (p.Thr3607Lys) n.4940C>A c.3955C>A n.2076C>A n.2026C>A c.1727C>A (p.Thr576Lys) c.8207C>A (p.Thr2736Lys) n.68C>A c.13310C>A (p.Thr4437Lys) c.9097C>A c.3952C>A c.3886C>A n.8021C>A c.8210C>A (p.Thr2737Lys) c.12875C>A (p.Thr4292Lys) c.3887C>A n.2325C>A c.5991C>A c.3161C>A (p.Thr1054Lys) n.11192C>A c.*10830C>A (n.*10830C>A) c.13526C>A (p.Thr4509Lys) c.13523C>A (p.Thr4508Lys) c.13361C>A (p.Thr4454Lys) c.13454C>A (p.Thr4485Lys) c.13358C>A (p.Thr4453Lys) c.13478C>A (p.Thr4493Lys) c.13406C>A (p.Thr4469Lys) c.13373C>A (p.Thr4458Lys) c.13289C>A (p.Thr4430Lys) c.12611C>A (p.Thr4204Lys) c.11072C>A (p.Thr3691Lys) c.13493C>A (p.Thr4498Lys) c.13475C>A (p.Thr4492Lys) c.13451C>A (p.Thr4484Lys) c.13379C>A (p.Thr4460Lys) c.13343C>A (p.Thr4448Lys) c.10196C>A (p.Thr3399Lys) c.9800C>A (p.Thr3267Lys) | |
7 | g.152148618T>A | CA370091600 | KMT2C | c.1497A>T n.2441A>T c.13480A>T (p.Thr4494Ser) n.2609A>T n.8501A>T c.3882A>T c.10819A>T (p.Thr3607Ser) n.4939A>T c.3954A>T n.2075A>T n.2025A>T c.1726A>T (p.Thr576Ser) c.8206A>T (p.Thr2736Ser) n.67A>T c.13309A>T (p.Thr4437Ser) c.9096A>T c.3951A>T c.3885A>T n.8020A>T c.8209A>T (p.Thr2737Ser) c.12874A>T (p.Thr4292Ser) c.3886A>T n.2324A>T c.5990A>T c.3160A>T (p.Thr1054Ser) n.11191A>T c.*10829A>T (n.*10829A>T) c.13525A>T (p.Thr4509Ser) c.13522A>T (p.Thr4508Ser) c.13360A>T (p.Thr4454Ser) c.13453A>T (p.Thr4485Ser) c.13357A>T (p.Thr4453Ser) c.13477A>T (p.Thr4493Ser) c.13405A>T (p.Thr4469Ser) c.13372A>T (p.Thr4458Ser) c.13288A>T (p.Thr4430Ser) c.12610A>T (p.Thr4204Ser) c.11071A>T (p.Thr3691Ser) c.13492A>T (p.Thr4498Ser) c.13474A>T (p.Thr4492Ser) c.13450A>T (p.Thr4484Ser) c.13378A>T (p.Thr4460Ser) c.13342A>T (p.Thr4448Ser) c.10195A>T (p.Thr3399Ser) c.9799A>T (p.Thr3267Ser) | |
7 | g.152148618T>C | CA370091598 | KMT2C | c.1497A>G n.2441A>G c.13480A>G (p.Thr4494Ala) n.2609A>G n.8501A>G c.3882A>G c.10819A>G (p.Thr3607Ala) n.4939A>G c.3954A>G n.2075A>G n.2025A>G c.1726A>G (p.Thr576Ala) c.8206A>G (p.Thr2736Ala) n.67A>G c.13309A>G (p.Thr4437Ala) c.9096A>G c.3951A>G c.3885A>G n.8020A>G c.8209A>G (p.Thr2737Ala) c.12874A>G (p.Thr4292Ala) c.3886A>G n.2324A>G c.5990A>G c.3160A>G (p.Thr1054Ala) n.11191A>G c.*10829A>G (n.*10829A>G) c.13525A>G (p.Thr4509Ala) c.13522A>G (p.Thr4508Ala) c.13360A>G (p.Thr4454Ala) c.13453A>G (p.Thr4485Ala) c.13357A>G (p.Thr4453Ala) c.13477A>G (p.Thr4493Ala) c.13405A>G (p.Thr4469Ala) c.13372A>G (p.Thr4458Ala) c.13288A>G (p.Thr4430Ala) c.12610A>G (p.Thr4204Ala) c.11071A>G (p.Thr3691Ala) c.13492A>G (p.Thr4498Ala) c.13474A>G (p.Thr4492Ala) c.13450A>G (p.Thr4484Ala) c.13378A>G (p.Thr4460Ala) c.13342A>G (p.Thr4448Ala) c.10195A>G (p.Thr3399Ala) c.9799A>G (p.Thr3267Ala) | |
7 | g.152148618T>G | CA370091597 | KMT2C | c.1497A>C n.2441A>C c.13480A>C (p.Thr4494Pro) n.2609A>C n.8501A>C c.3882A>C c.10819A>C (p.Thr3607Pro) n.4939A>C c.3954A>C n.2075A>C n.2025A>C c.1726A>C (p.Thr576Pro) c.8206A>C (p.Thr2736Pro) n.67A>C c.13309A>C (p.Thr4437Pro) c.9096A>C c.3951A>C c.3885A>C n.8020A>C c.8209A>C (p.Thr2737Pro) c.12874A>C (p.Thr4292Pro) c.3886A>C n.2324A>C c.5990A>C c.3160A>C (p.Thr1054Pro) n.11191A>C c.*10829A>C (n.*10829A>C) c.13525A>C (p.Thr4509Pro) c.13522A>C (p.Thr4508Pro) c.13360A>C (p.Thr4454Pro) c.13453A>C (p.Thr4485Pro) c.13357A>C (p.Thr4453Pro) c.13477A>C (p.Thr4493Pro) c.13405A>C (p.Thr4469Pro) c.13372A>C (p.Thr4458Pro) c.13288A>C (p.Thr4430Pro) c.12610A>C (p.Thr4204Pro) c.11071A>C (p.Thr3691Pro) c.13492A>C (p.Thr4498Pro) c.13474A>C (p.Thr4492Pro) c.13450A>C (p.Thr4484Pro) c.13378A>C (p.Thr4460Pro) c.13342A>C (p.Thr4448Pro) c.10195A>C (p.Thr3399Pro) c.9799A>C (p.Thr3267Pro) | |
7 | g.152148619G>A | CA458884833 | KMT2C | c.1496C>T n.2440C>T c.13479C>T (p.Ser4493=) n.2608C>T n.8500C>T c.3881C>T c.10818C>T (p.Ser3606=) n.4938C>T c.3953C>T n.2074C>T n.2024C>T c.1725C>T (p.Ser575=) c.8205C>T (p.Ser2735=) n.66C>T c.13308C>T (p.Ser4436=) c.9095C>T c.3950C>T c.3884C>T n.8019C>T c.8208C>T (p.Ser2736=) c.12873C>T (p.Ser4291=) c.3885C>T n.2323C>T c.5989C>T c.3159C>T (p.Ser1053=) n.11190C>T c.*10828C>T (n.*10828C>T) c.13524C>T (p.Ser4508=) c.13521C>T (p.Ser4507=) c.13359C>T (p.Ser4453=) c.13452C>T (p.Ser4484=) c.13356C>T (p.Ser4452=) c.13476C>T (p.Ser4492=) c.13404C>T (p.Ser4468=) c.13371C>T (p.Ser4457=) c.13287C>T (p.Ser4429=) c.12609C>T (p.Ser4203=) c.11070C>T (p.Ser3690=) c.13491C>T (p.Ser4497=) c.13473C>T (p.Ser4491=) c.13449C>T (p.Ser4483=) c.13377C>T (p.Ser4459=) c.13341C>T (p.Ser4447=) c.10194C>T (p.Ser3398=) c.9798C>T (p.Ser3266=) | |
7 | g.152148619G>C | CA458884834 | KMT2C | c.1496C>G n.2440C>G c.13479C>G (p.Ser4493=) n.2608C>G n.8500C>G c.3881C>G c.10818C>G (p.Ser3606=) n.4938C>G c.3953C>G n.2074C>G n.2024C>G c.1725C>G (p.Ser575=) c.8205C>G (p.Ser2735=) n.66C>G c.13308C>G (p.Ser4436=) c.9095C>G c.3950C>G c.3884C>G n.8019C>G c.8208C>G (p.Ser2736=) c.12873C>G (p.Ser4291=) c.3885C>G n.2323C>G c.5989C>G c.3159C>G (p.Ser1053=) n.11190C>G c.*10828C>G (n.*10828C>G) c.13524C>G (p.Ser4508=) c.13521C>G (p.Ser4507=) c.13359C>G (p.Ser4453=) c.13452C>G (p.Ser4484=) c.13356C>G (p.Ser4452=) c.13476C>G (p.Ser4492=) c.13404C>G (p.Ser4468=) c.13371C>G (p.Ser4457=) c.13287C>G (p.Ser4429=) c.12609C>G (p.Ser4203=) c.11070C>G (p.Ser3690=) c.13491C>G (p.Ser4497=) c.13473C>G (p.Ser4491=) c.13449C>G (p.Ser4483=) c.13377C>G (p.Ser4459=) c.13341C>G (p.Ser4447=) c.10194C>G (p.Ser3398=) c.9798C>G (p.Ser3266=) | |
7 | g.152148619G>T | CA458884835 | KMT2C | c.1496C>A n.2440C>A c.13479C>A (p.Ser4493=) n.2608C>A n.8500C>A c.3881C>A c.10818C>A (p.Ser3606=) n.4938C>A c.3953C>A n.2074C>A n.2024C>A c.1725C>A (p.Ser575=) c.8205C>A (p.Ser2735=) n.66C>A c.13308C>A (p.Ser4436=) c.9095C>A c.3950C>A c.3884C>A n.8019C>A c.8208C>A (p.Ser2736=) c.12873C>A (p.Ser4291=) c.3885C>A n.2323C>A c.5989C>A c.3159C>A (p.Ser1053=) n.11190C>A c.*10828C>A (n.*10828C>A) c.13524C>A (p.Ser4508=) c.13521C>A (p.Ser4507=) c.13359C>A (p.Ser4453=) c.13452C>A (p.Ser4484=) c.13356C>A (p.Ser4452=) c.13476C>A (p.Ser4492=) c.13404C>A (p.Ser4468=) c.13371C>A (p.Ser4457=) c.13287C>A (p.Ser4429=) c.12609C>A (p.Ser4203=) c.11070C>A (p.Ser3690=) c.13491C>A (p.Ser4497=) c.13473C>A (p.Ser4491=) c.13449C>A (p.Ser4483=) c.13377C>A (p.Ser4459=) c.13341C>A (p.Ser4447=) c.10194C>A (p.Ser3398=) c.9798C>A (p.Ser3266=) | dbSNP |
7 | g.152148620G>A | CA370091603 | KMT2C | c.1495C>T n.2439C>T c.13478C>T (p.Ser4493Phe) n.2607C>T n.8499C>T c.3880C>T c.10817C>T (p.Ser3606Phe) n.4937C>T c.3952C>T n.2073C>T n.2023C>T c.1724C>T (p.Ser575Phe) c.8204C>T (p.Ser2735Phe) n.65C>T c.13307C>T (p.Ser4436Phe) c.9094C>T c.3949C>T c.3883C>T n.8018C>T c.8207C>T (p.Ser2736Phe) c.12872C>T (p.Ser4291Phe) c.3884C>T n.2322C>T c.5988C>T c.3158C>T (p.Ser1053Phe) n.11189C>T c.*10827C>T (n.*10827C>T) c.13523C>T (p.Ser4508Phe) c.13520C>T (p.Ser4507Phe) c.13358C>T (p.Ser4453Phe) c.13451C>T (p.Ser4484Phe) c.13355C>T (p.Ser4452Phe) c.13475C>T (p.Ser4492Phe) c.13403C>T (p.Ser4468Phe) c.13370C>T (p.Ser4457Phe) c.13286C>T (p.Ser4429Phe) c.12608C>T (p.Ser4203Phe) c.11069C>T (p.Ser3690Phe) c.13490C>T (p.Ser4497Phe) c.13472C>T (p.Ser4491Phe) c.13448C>T (p.Ser4483Phe) c.13376C>T (p.Ser4459Phe) c.13340C>T (p.Ser4447Phe) c.10193C>T (p.Ser3398Phe) c.9797C>T (p.Ser3266Phe) | |
7 | g.152148620G>C | CA370091604 | KMT2C | c.1495C>G n.2439C>G c.13478C>G (p.Ser4493Cys) n.2607C>G n.8499C>G c.3880C>G c.10817C>G (p.Ser3606Cys) n.4937C>G c.3952C>G n.2073C>G n.2023C>G c.1724C>G (p.Ser575Cys) c.8204C>G (p.Ser2735Cys) n.65C>G c.13307C>G (p.Ser4436Cys) c.9094C>G c.3949C>G c.3883C>G n.8018C>G c.8207C>G (p.Ser2736Cys) c.12872C>G (p.Ser4291Cys) c.3884C>G n.2322C>G c.5988C>G c.3158C>G (p.Ser1053Cys) n.11189C>G c.*10827C>G (n.*10827C>G) c.13523C>G (p.Ser4508Cys) c.13520C>G (p.Ser4507Cys) c.13358C>G (p.Ser4453Cys) c.13451C>G (p.Ser4484Cys) c.13355C>G (p.Ser4452Cys) c.13475C>G (p.Ser4492Cys) c.13403C>G (p.Ser4468Cys) c.13370C>G (p.Ser4457Cys) c.13286C>G (p.Ser4429Cys) c.12608C>G (p.Ser4203Cys) c.11069C>G (p.Ser3690Cys) c.13490C>G (p.Ser4497Cys) c.13472C>G (p.Ser4491Cys) c.13448C>G (p.Ser4483Cys) c.13376C>G (p.Ser4459Cys) c.13340C>G (p.Ser4447Cys) c.10193C>G (p.Ser3398Cys) c.9797C>G (p.Ser3266Cys) | dbSNP |
7 | g.152148620G>T | CA370091605 | KMT2C | c.1495C>A n.2439C>A c.13478C>A (p.Ser4493Tyr) n.2607C>A n.8499C>A c.3880C>A c.10817C>A (p.Ser3606Tyr) n.4937C>A c.3952C>A n.2073C>A n.2023C>A c.1724C>A (p.Ser575Tyr) c.8204C>A (p.Ser2735Tyr) n.65C>A c.13307C>A (p.Ser4436Tyr) c.9094C>A c.3949C>A c.3883C>A n.8018C>A c.8207C>A (p.Ser2736Tyr) c.12872C>A (p.Ser4291Tyr) c.3884C>A n.2322C>A c.5988C>A c.3158C>A (p.Ser1053Tyr) n.11189C>A c.*10827C>A (n.*10827C>A) c.13523C>A (p.Ser4508Tyr) c.13520C>A (p.Ser4507Tyr) c.13358C>A (p.Ser4453Tyr) c.13451C>A (p.Ser4484Tyr) c.13355C>A (p.Ser4452Tyr) c.13475C>A (p.Ser4492Tyr) c.13403C>A (p.Ser4468Tyr) c.13370C>A (p.Ser4457Tyr) c.13286C>A (p.Ser4429Tyr) c.12608C>A (p.Ser4203Tyr) c.11069C>A (p.Ser3690Tyr) c.13490C>A (p.Ser4497Tyr) c.13472C>A (p.Ser4491Tyr) c.13448C>A (p.Ser4483Tyr) c.13376C>A (p.Ser4459Tyr) c.13340C>A (p.Ser4447Tyr) c.10193C>A (p.Ser3398Tyr) c.9797C>A (p.Ser3266Tyr) | |
7 | g.152148621A>C | CA370091606 | KMT2C | c.1494T>G n.2438T>G c.13477T>G (p.Ser4493Ala) n.2606T>G n.8498T>G c.3879T>G c.10816T>G (p.Ser3606Ala) n.4936T>G c.3951T>G n.2072T>G n.2022T>G c.1723T>G (p.Ser575Ala) c.8203T>G (p.Ser2735Ala) n.64T>G c.13306T>G (p.Ser4436Ala) c.9093T>G c.3948T>G c.3882T>G n.8017T>G c.8206T>G (p.Ser2736Ala) c.12871T>G (p.Ser4291Ala) c.3883T>G n.2321T>G c.5987T>G c.3157T>G (p.Ser1053Ala) n.11188T>G c.*10826T>G (n.*10826T>G) c.13522T>G (p.Ser4508Ala) c.13519T>G (p.Ser4507Ala) c.13357T>G (p.Ser4453Ala) c.13450T>G (p.Ser4484Ala) c.13354T>G (p.Ser4452Ala) c.13474T>G (p.Ser4492Ala) c.13402T>G (p.Ser4468Ala) c.13369T>G (p.Ser4457Ala) c.13285T>G (p.Ser4429Ala) c.12607T>G (p.Ser4203Ala) c.11068T>G (p.Ser3690Ala) c.13489T>G (p.Ser4497Ala) c.13471T>G (p.Ser4491Ala) c.13447T>G (p.Ser4483Ala) c.13375T>G (p.Ser4459Ala) c.13339T>G (p.Ser4447Ala) c.10192T>G (p.Ser3398Ala) c.9796T>G (p.Ser3266Ala) | |
7 | g.152148621A>G | CA370091607 | KMT2C | c.1494T>C n.2438T>C c.13477T>C (p.Ser4493Pro) n.2606T>C n.8498T>C c.3879T>C c.10816T>C (p.Ser3606Pro) n.4936T>C c.3951T>C n.2072T>C n.2022T>C c.1723T>C (p.Ser575Pro) c.8203T>C (p.Ser2735Pro) n.64T>C c.13306T>C (p.Ser4436Pro) c.9093T>C c.3948T>C c.3882T>C n.8017T>C c.8206T>C (p.Ser2736Pro) c.12871T>C (p.Ser4291Pro) c.3883T>C n.2321T>C c.5987T>C c.3157T>C (p.Ser1053Pro) n.11188T>C c.*10826T>C (n.*10826T>C) c.13522T>C (p.Ser4508Pro) c.13519T>C (p.Ser4507Pro) c.13357T>C (p.Ser4453Pro) c.13450T>C (p.Ser4484Pro) c.13354T>C (p.Ser4452Pro) c.13474T>C (p.Ser4492Pro) c.13402T>C (p.Ser4468Pro) c.13369T>C (p.Ser4457Pro) c.13285T>C (p.Ser4429Pro) c.12607T>C (p.Ser4203Pro) c.11068T>C (p.Ser3690Pro) c.13489T>C (p.Ser4497Pro) c.13471T>C (p.Ser4491Pro) c.13447T>C (p.Ser4483Pro) c.13375T>C (p.Ser4459Pro) c.13339T>C (p.Ser4447Pro) c.10192T>C (p.Ser3398Pro) c.9796T>C (p.Ser3266Pro) | gnomAD v4 |
7 | g.152148621A>T | CA370091608 | KMT2C | c.1494T>A n.2438T>A c.13477T>A (p.Ser4493Thr) n.2606T>A n.8498T>A c.3879T>A c.10816T>A (p.Ser3606Thr) n.4936T>A c.3951T>A n.2072T>A n.2022T>A c.1723T>A (p.Ser575Thr) c.8203T>A (p.Ser2735Thr) n.64T>A c.13306T>A (p.Ser4436Thr) c.9093T>A c.3948T>A c.3882T>A n.8017T>A c.8206T>A (p.Ser2736Thr) c.12871T>A (p.Ser4291Thr) c.3883T>A n.2321T>A c.5987T>A c.3157T>A (p.Ser1053Thr) n.11188T>A c.*10826T>A (n.*10826T>A) c.13522T>A (p.Ser4508Thr) c.13519T>A (p.Ser4507Thr) c.13357T>A (p.Ser4453Thr) c.13450T>A (p.Ser4484Thr) c.13354T>A (p.Ser4452Thr) c.13474T>A (p.Ser4492Thr) c.13402T>A (p.Ser4468Thr) c.13369T>A (p.Ser4457Thr) c.13285T>A (p.Ser4429Thr) c.12607T>A (p.Ser4203Thr) c.11068T>A (p.Ser3690Thr) c.13489T>A (p.Ser4497Thr) c.13471T>A (p.Ser4491Thr) c.13447T>A (p.Ser4483Thr) c.13375T>A (p.Ser4459Thr) c.13339T>A (p.Ser4447Thr) c.10192T>A (p.Ser3398Thr) c.9796T>A (p.Ser3266Thr) | |
7 | g.152148622C>A | CA370091609 | KMT2C | c.1493G>T n.2437G>T c.13476G>T (p.Trp4492Cys) n.2605G>T n.8497G>T c.3878G>T c.10815G>T (p.Trp3605Cys) n.4935G>T c.3950G>T n.2071G>T n.2021G>T c.1722G>T (p.Trp574Cys) c.8202G>T (p.Trp2734Cys) n.63G>T c.13305G>T (p.Trp4435Cys) c.9092G>T c.3947G>T c.3881G>T n.8016G>T c.8205G>T (p.Trp2735Cys) c.12870G>T (p.Trp4290Cys) c.3882G>T n.2320G>T c.5986G>T c.3156G>T (p.Trp1052Cys) n.11187G>T c.*10825G>T (n.*10825G>T) c.13521G>T (p.Trp4507Cys) c.13518G>T (p.Trp4506Cys) c.13356G>T (p.Trp4452Cys) c.13449G>T (p.Trp4483Cys) c.13353G>T (p.Trp4451Cys) c.13473G>T (p.Trp4491Cys) c.13401G>T (p.Trp4467Cys) c.13368G>T (p.Trp4456Cys) c.13284G>T (p.Trp4428Cys) c.12606G>T (p.Trp4202Cys) c.11067G>T (p.Trp3689Cys) c.13488G>T (p.Trp4496Cys) c.13470G>T (p.Trp4490Cys) c.13446G>T (p.Trp4482Cys) c.13374G>T (p.Trp4458Cys) c.13338G>T (p.Trp4446Cys) c.10191G>T (p.Trp3397Cys) c.9795G>T (p.Trp3265Cys) | |
7 | g.152148622C>G | CA370091612 | KMT2C | c.1493G>C n.2437G>C c.13476G>C (p.Trp4492Cys) n.2605G>C n.8497G>C c.3878G>C c.10815G>C (p.Trp3605Cys) n.4935G>C c.3950G>C n.2071G>C n.2021G>C c.1722G>C (p.Trp574Cys) c.8202G>C (p.Trp2734Cys) n.63G>C c.13305G>C (p.Trp4435Cys) c.9092G>C c.3947G>C c.3881G>C n.8016G>C c.8205G>C (p.Trp2735Cys) c.12870G>C (p.Trp4290Cys) c.3882G>C n.2320G>C c.5986G>C c.3156G>C (p.Trp1052Cys) n.11187G>C c.*10825G>C (n.*10825G>C) c.13521G>C (p.Trp4507Cys) c.13518G>C (p.Trp4506Cys) c.13356G>C (p.Trp4452Cys) c.13449G>C (p.Trp4483Cys) c.13353G>C (p.Trp4451Cys) c.13473G>C (p.Trp4491Cys) c.13401G>C (p.Trp4467Cys) c.13368G>C (p.Trp4456Cys) c.13284G>C (p.Trp4428Cys) c.12606G>C (p.Trp4202Cys) c.11067G>C (p.Trp3689Cys) c.13488G>C (p.Trp4496Cys) c.13470G>C (p.Trp4490Cys) c.13446G>C (p.Trp4482Cys) c.13374G>C (p.Trp4458Cys) c.13338G>C (p.Trp4446Cys) c.10191G>C (p.Trp3397Cys) c.9795G>C (p.Trp3265Cys) | dbSNP |
7 | g.152148622C>T | CA370091610 | KMT2C | c.1493G>A n.2437G>A c.13476G>A (p.Trp4492Ter) n.2605G>A n.8497G>A c.3878G>A c.10815G>A (p.Trp3605Ter) n.4935G>A c.3950G>A n.2071G>A n.2021G>A c.1722G>A (p.Trp574Ter) c.8202G>A (p.Trp2734Ter) n.63G>A c.13305G>A (p.Trp4435Ter) c.9092G>A c.3947G>A c.3881G>A n.8016G>A c.8205G>A (p.Trp2735Ter) c.12870G>A (p.Trp4290Ter) c.3882G>A n.2320G>A c.5986G>A c.3156G>A (p.Trp1052Ter) n.11187G>A c.*10825G>A (n.*10825G>A) c.13521G>A (p.Trp4507Ter) c.13518G>A (p.Trp4506Ter) c.13356G>A (p.Trp4452Ter) c.13449G>A (p.Trp4483Ter) c.13353G>A (p.Trp4451Ter) c.13473G>A (p.Trp4491Ter) c.13401G>A (p.Trp4467Ter) c.13368G>A (p.Trp4456Ter) c.13284G>A (p.Trp4428Ter) c.12606G>A (p.Trp4202Ter) c.11067G>A (p.Trp3689Ter) c.13488G>A (p.Trp4496Ter) c.13470G>A (p.Trp4490Ter) c.13446G>A (p.Trp4482Ter) c.13374G>A (p.Trp4458Ter) c.13338G>A (p.Trp4446Ter) c.10191G>A (p.Trp3397Ter) c.9795G>A (p.Trp3265Ter) | |
7 | g.152148623C>A | CA370091614 | KMT2C | c.1492G>T n.2436G>T c.13475G>T (p.Trp4492Leu) n.2604G>T n.8496G>T c.3877G>T c.10814G>T (p.Trp3605Leu) n.4934G>T c.3949G>T n.2070G>T n.2020G>T c.1721G>T (p.Trp574Leu) c.8201G>T (p.Trp2734Leu) n.62G>T c.13304G>T (p.Trp4435Leu) c.9091G>T c.3946G>T c.3880G>T n.8015G>T c.8204G>T (p.Trp2735Leu) c.12869G>T (p.Trp4290Leu) c.3881G>T n.2319G>T c.5985G>T c.3155G>T (p.Trp1052Leu) n.11186G>T c.*10824G>T (n.*10824G>T) c.13520G>T (p.Trp4507Leu) c.13517G>T (p.Trp4506Leu) c.13355G>T (p.Trp4452Leu) c.13448G>T (p.Trp4483Leu) c.13352G>T (p.Trp4451Leu) c.13472G>T (p.Trp4491Leu) c.13400G>T (p.Trp4467Leu) c.13367G>T (p.Trp4456Leu) c.13283G>T (p.Trp4428Leu) c.12605G>T (p.Trp4202Leu) c.11066G>T (p.Trp3689Leu) c.13487G>T (p.Trp4496Leu) c.13469G>T (p.Trp4490Leu) c.13445G>T (p.Trp4482Leu) c.13373G>T (p.Trp4458Leu) c.13337G>T (p.Trp4446Leu) c.10190G>T (p.Trp3397Leu) c.9794G>T (p.Trp3265Leu) | |
7 | g.152148623C>G | CA370091616 | KMT2C | c.1492G>C n.2436G>C c.13475G>C (p.Trp4492Ser) n.2604G>C n.8496G>C c.3877G>C c.10814G>C (p.Trp3605Ser) n.4934G>C c.3949G>C n.2070G>C n.2020G>C c.1721G>C (p.Trp574Ser) c.8201G>C (p.Trp2734Ser) n.62G>C c.13304G>C (p.Trp4435Ser) c.9091G>C c.3946G>C c.3880G>C n.8015G>C c.8204G>C (p.Trp2735Ser) c.12869G>C (p.Trp4290Ser) c.3881G>C n.2319G>C c.5985G>C c.3155G>C (p.Trp1052Ser) n.11186G>C c.*10824G>C (n.*10824G>C) c.13520G>C (p.Trp4507Ser) c.13517G>C (p.Trp4506Ser) c.13355G>C (p.Trp4452Ser) c.13448G>C (p.Trp4483Ser) c.13352G>C (p.Trp4451Ser) c.13472G>C (p.Trp4491Ser) c.13400G>C (p.Trp4467Ser) c.13367G>C (p.Trp4456Ser) c.13283G>C (p.Trp4428Ser) c.12605G>C (p.Trp4202Ser) c.11066G>C (p.Trp3689Ser) c.13487G>C (p.Trp4496Ser) c.13469G>C (p.Trp4490Ser) c.13445G>C (p.Trp4482Ser) c.13373G>C (p.Trp4458Ser) c.13337G>C (p.Trp4446Ser) c.10190G>C (p.Trp3397Ser) c.9794G>C (p.Trp3265Ser) | dbSNP |
7 | g.152148623C>T | CA370091617 | KMT2C | c.1492G>A n.2436G>A c.13475G>A (p.Trp4492Ter) n.2604G>A n.8496G>A c.3877G>A c.10814G>A (p.Trp3605Ter) n.4934G>A c.3949G>A n.2070G>A n.2020G>A c.1721G>A (p.Trp574Ter) c.8201G>A (p.Trp2734Ter) n.62G>A c.13304G>A (p.Trp4435Ter) c.9091G>A c.3946G>A c.3880G>A n.8015G>A c.8204G>A (p.Trp2735Ter) c.12869G>A (p.Trp4290Ter) c.3881G>A n.2319G>A c.5985G>A c.3155G>A (p.Trp1052Ter) n.11186G>A c.*10824G>A (n.*10824G>A) c.13520G>A (p.Trp4507Ter) c.13517G>A (p.Trp4506Ter) c.13355G>A (p.Trp4452Ter) c.13448G>A (p.Trp4483Ter) c.13352G>A (p.Trp4451Ter) c.13472G>A (p.Trp4491Ter) c.13400G>A (p.Trp4467Ter) c.13367G>A (p.Trp4456Ter) c.13283G>A (p.Trp4428Ter) c.12605G>A (p.Trp4202Ter) c.11066G>A (p.Trp3689Ter) c.13487G>A (p.Trp4496Ter) c.13469G>A (p.Trp4490Ter) c.13445G>A (p.Trp4482Ter) c.13373G>A (p.Trp4458Ter) c.13337G>A (p.Trp4446Ter) c.10190G>A (p.Trp3397Ter) c.9794G>A (p.Trp3265Ter) | |
7 | g.152148624A>C | CA370091618 | KMT2C | c.1491T>G n.2435T>G c.13474T>G (p.Trp4492Gly) n.2603T>G n.8495T>G c.3876T>G c.10813T>G (p.Trp3605Gly) n.4933T>G c.3948T>G n.2069T>G n.2019T>G c.1720T>G (p.Trp574Gly) c.8200T>G (p.Trp2734Gly) n.61T>G c.13303T>G (p.Trp4435Gly) c.9090T>G c.3945T>G c.3879T>G n.8014T>G c.8203T>G (p.Trp2735Gly) c.12868T>G (p.Trp4290Gly) c.3880T>G n.2318T>G c.5984T>G c.3154T>G (p.Trp1052Gly) n.11185T>G c.*10823T>G (n.*10823T>G) c.13519T>G (p.Trp4507Gly) c.13516T>G (p.Trp4506Gly) c.13354T>G (p.Trp4452Gly) c.13447T>G (p.Trp4483Gly) c.13351T>G (p.Trp4451Gly) c.13471T>G (p.Trp4491Gly) c.13399T>G (p.Trp4467Gly) c.13366T>G (p.Trp4456Gly) c.13282T>G (p.Trp4428Gly) c.12604T>G (p.Trp4202Gly) c.11065T>G (p.Trp3689Gly) c.13486T>G (p.Trp4496Gly) c.13468T>G (p.Trp4490Gly) c.13444T>G (p.Trp4482Gly) c.13372T>G (p.Trp4458Gly) c.13336T>G (p.Trp4446Gly) c.10189T>G (p.Trp3397Gly) c.9793T>G (p.Trp3265Gly) | |
7 | g.152148624A>G | CA370091620 | KMT2C | c.1491T>C n.2435T>C c.13474T>C (p.Trp4492Arg) n.2603T>C n.8495T>C c.3876T>C c.10813T>C (p.Trp3605Arg) n.4933T>C c.3948T>C n.2069T>C n.2019T>C c.1720T>C (p.Trp574Arg) c.8200T>C (p.Trp2734Arg) n.61T>C c.13303T>C (p.Trp4435Arg) c.9090T>C c.3945T>C c.3879T>C n.8014T>C c.8203T>C (p.Trp2735Arg) c.12868T>C (p.Trp4290Arg) c.3880T>C n.2318T>C c.5984T>C c.3154T>C (p.Trp1052Arg) n.11185T>C c.*10823T>C (n.*10823T>C) c.13519T>C (p.Trp4507Arg) c.13516T>C (p.Trp4506Arg) c.13354T>C (p.Trp4452Arg) c.13447T>C (p.Trp4483Arg) c.13351T>C (p.Trp4451Arg) c.13471T>C (p.Trp4491Arg) c.13399T>C (p.Trp4467Arg) c.13366T>C (p.Trp4456Arg) c.13282T>C (p.Trp4428Arg) c.12604T>C (p.Trp4202Arg) c.11065T>C (p.Trp3689Arg) c.13486T>C (p.Trp4496Arg) c.13468T>C (p.Trp4490Arg) c.13444T>C (p.Trp4482Arg) c.13372T>C (p.Trp4458Arg) c.13336T>C (p.Trp4446Arg) c.10189T>C (p.Trp3397Arg) c.9793T>C (p.Trp3265Arg) | |
7 | g.152148624A>T | CA370091622 | KMT2C | c.1491T>A n.2435T>A c.13474T>A (p.Trp4492Arg) n.2603T>A n.8495T>A c.3876T>A c.10813T>A (p.Trp3605Arg) n.4933T>A c.3948T>A n.2069T>A n.2019T>A c.1720T>A (p.Trp574Arg) c.8200T>A (p.Trp2734Arg) n.61T>A c.13303T>A (p.Trp4435Arg) c.9090T>A c.3945T>A c.3879T>A n.8014T>A c.8203T>A (p.Trp2735Arg) c.12868T>A (p.Trp4290Arg) c.3880T>A n.2318T>A c.5984T>A c.3154T>A (p.Trp1052Arg) n.11185T>A c.*10823T>A (n.*10823T>A) c.13519T>A (p.Trp4507Arg) c.13516T>A (p.Trp4506Arg) c.13354T>A (p.Trp4452Arg) c.13447T>A (p.Trp4483Arg) c.13351T>A (p.Trp4451Arg) c.13471T>A (p.Trp4491Arg) c.13399T>A (p.Trp4467Arg) c.13366T>A (p.Trp4456Arg) c.13282T>A (p.Trp4428Arg) c.12604T>A (p.Trp4202Arg) c.11065T>A (p.Trp3689Arg) c.13486T>A (p.Trp4496Arg) c.13468T>A (p.Trp4490Arg) c.13444T>A (p.Trp4482Arg) c.13372T>A (p.Trp4458Arg) c.13336T>A (p.Trp4446Arg) c.10189T>A (p.Trp3397Arg) c.9793T>A (p.Trp3265Arg) | |
7 | g.152148625C>A | CA458884842 | KMT2C | c.1490G>T n.2434G>T c.13473G>T (p.Leu4491=) n.2602G>T n.8494G>T c.3875G>T c.10812G>T (p.Leu3604=) n.4932G>T c.3947G>T n.2068G>T n.2018G>T c.1719G>T (p.Leu573=) c.8199G>T (p.Leu2733=) n.60G>T c.13302G>T (p.Leu4434=) c.9089G>T c.3944G>T c.3878G>T n.8013G>T c.8202G>T (p.Leu2734=) c.12867G>T (p.Leu4289=) c.3879G>T n.2317G>T c.5983G>T c.3153G>T (p.Leu1051=) n.11184G>T c.*10822G>T (n.*10822G>T) c.13518G>T (p.Leu4506=) c.13515G>T (p.Leu4505=) c.13353G>T (p.Leu4451=) c.13446G>T (p.Leu4482=) c.13350G>T (p.Leu4450=) c.13470G>T (p.Leu4490=) c.13398G>T (p.Leu4466=) c.13365G>T (p.Leu4455=) c.13281G>T (p.Leu4427=) c.12603G>T (p.Leu4201=) c.11064G>T (p.Leu3688=) c.13485G>T (p.Leu4495=) c.13467G>T (p.Leu4489=) c.13443G>T (p.Leu4481=) c.13371G>T (p.Leu4457=) c.13335G>T (p.Leu4445=) c.10188G>T (p.Leu3396=) c.9792G>T (p.Leu3264=) | dbSNP gnomAD v4 |
7 | g.152148625C= | CA1752986035 | KMT2C | c.1490G= n.2434G= c.13473G= (p.Leu4491=) n.2602G= n.8494G= c.3875G= c.10812G= (p.Leu3604=) n.4932G= c.3947G= n.2068G= n.2018G= c.1719G= (p.Leu573=) c.8199G= (p.Leu2733=) n.60G= c.13302G= (p.Leu4434=) c.9089G= c.3944G= c.3878G= n.8013G= c.8202G= (p.Leu2734=) c.12867G= (p.Leu4289=) c.3879G= n.2317G= c.5983G= c.3153G= (p.Leu1051=) n.11184G= c.*10822G= (n.*10822G=) c.13518G= (p.Leu4506=) c.13515G= (p.Leu4505=) c.13353G= (p.Leu4451=) c.13446G= (p.Leu4482=) c.13350G= (p.Leu4450=) c.13470G= (p.Leu4490=) c.13398G= (p.Leu4466=) c.13365G= (p.Leu4455=) c.13281G= (p.Leu4427=) c.12603G= (p.Leu4201=) c.11064G= (p.Leu3688=) c.13485G= (p.Leu4495=) c.13467G= (p.Leu4489=) c.13443G= (p.Leu4481=) c.13371G= (p.Leu4457=) c.13335G= (p.Leu4445=) c.10188G= (p.Leu3396=) c.9792G= (p.Leu3264=) | |
7 | g.152148625C>G | CA458884843 | KMT2C | c.1490G>C n.2434G>C c.13473G>C (p.Leu4491=) n.2602G>C n.8494G>C c.3875G>C c.10812G>C (p.Leu3604=) n.4932G>C c.3947G>C n.2068G>C n.2018G>C c.1719G>C (p.Leu573=) c.8199G>C (p.Leu2733=) n.60G>C c.13302G>C (p.Leu4434=) c.9089G>C c.3944G>C c.3878G>C n.8013G>C c.8202G>C (p.Leu2734=) c.12867G>C (p.Leu4289=) c.3879G>C n.2317G>C c.5983G>C c.3153G>C (p.Leu1051=) n.11184G>C c.*10822G>C (n.*10822G>C) c.13518G>C (p.Leu4506=) c.13515G>C (p.Leu4505=) c.13353G>C (p.Leu4451=) c.13446G>C (p.Leu4482=) c.13350G>C (p.Leu4450=) c.13470G>C (p.Leu4490=) c.13398G>C (p.Leu4466=) c.13365G>C (p.Leu4455=) c.13281G>C (p.Leu4427=) c.12603G>C (p.Leu4201=) c.11064G>C (p.Leu3688=) c.13485G>C (p.Leu4495=) c.13467G>C (p.Leu4489=) c.13443G>C (p.Leu4481=) c.13371G>C (p.Leu4457=) c.13335G>C (p.Leu4445=) c.10188G>C (p.Leu3396=) c.9792G>C (p.Leu3264=) | dbSNP gnomAD v4 |
7 | g.152148625C>T | CA4578644 | KMT2C | c.1490G>A n.2434G>A c.13473G>A (p.Leu4491=) n.2602G>A n.8494G>A c.3875G>A c.10812G>A (p.Leu3604=) n.4932G>A c.3947G>A n.2068G>A n.2018G>A c.1719G>A (p.Leu573=) c.8199G>A (p.Leu2733=) n.60G>A c.13302G>A (p.Leu4434=) c.9089G>A c.3944G>A c.3878G>A n.8013G>A c.8202G>A (p.Leu2734=) c.12867G>A (p.Leu4289=) c.3879G>A n.2317G>A c.5983G>A c.3153G>A (p.Leu1051=) n.11184G>A c.*10822G>A (n.*10822G>A) c.13518G>A (p.Leu4506=) c.13515G>A (p.Leu4505=) c.13353G>A (p.Leu4451=) c.13446G>A (p.Leu4482=) c.13350G>A (p.Leu4450=) c.13470G>A (p.Leu4490=) c.13398G>A (p.Leu4466=) c.13365G>A (p.Leu4455=) c.13281G>A (p.Leu4427=) c.12603G>A (p.Leu4201=) c.11064G>A (p.Leu3688=) c.13485G>A (p.Leu4495=) c.13467G>A (p.Leu4489=) c.13443G>A (p.Leu4481=) c.13371G>A (p.Leu4457=) c.13335G>A (p.Leu4445=) c.10188G>A (p.Leu3396=) c.9792G>A (p.Leu3264=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.152148626A>C | CA370091624 | KMT2C | c.1489T>G n.2433T>G c.13472T>G (p.Leu4491Arg) n.2601T>G n.8493T>G c.3874T>G c.10811T>G (p.Leu3604Arg) n.4931T>G c.3946T>G n.2067T>G n.2017T>G c.1718T>G (p.Leu573Arg) c.8198T>G (p.Leu2733Arg) n.59T>G c.13301T>G (p.Leu4434Arg) c.9088T>G c.3943T>G c.3877T>G n.8012T>G c.8201T>G (p.Leu2734Arg) c.12866T>G (p.Leu4289Arg) c.3878T>G n.2316T>G c.5982T>G c.3152T>G (p.Leu1051Arg) n.11183T>G c.*10821T>G (n.*10821T>G) c.13517T>G (p.Leu4506Arg) c.13514T>G (p.Leu4505Arg) c.13352T>G (p.Leu4451Arg) c.13445T>G (p.Leu4482Arg) c.13349T>G (p.Leu4450Arg) c.13469T>G (p.Leu4490Arg) c.13397T>G (p.Leu4466Arg) c.13364T>G (p.Leu4455Arg) c.13280T>G (p.Leu4427Arg) c.12602T>G (p.Leu4201Arg) c.11063T>G (p.Leu3688Arg) c.13484T>G (p.Leu4495Arg) c.13466T>G (p.Leu4489Arg) c.13442T>G (p.Leu4481Arg) c.13370T>G (p.Leu4457Arg) c.13334T>G (p.Leu4445Arg) c.10187T>G (p.Leu3396Arg) c.9791T>G (p.Leu3264Arg) | |
7 | g.152148626A>G | CA370091626 | KMT2C | c.1489T>C n.2433T>C c.13472T>C (p.Leu4491Pro) n.2601T>C n.8493T>C c.3874T>C c.10811T>C (p.Leu3604Pro) n.4931T>C c.3946T>C n.2067T>C n.2017T>C c.1718T>C (p.Leu573Pro) c.8198T>C (p.Leu2733Pro) n.59T>C c.13301T>C (p.Leu4434Pro) c.9088T>C c.3943T>C c.3877T>C n.8012T>C c.8201T>C (p.Leu2734Pro) c.12866T>C (p.Leu4289Pro) c.3878T>C n.2316T>C c.5982T>C c.3152T>C (p.Leu1051Pro) n.11183T>C c.*10821T>C (n.*10821T>C) c.13517T>C (p.Leu4506Pro) c.13514T>C (p.Leu4505Pro) c.13352T>C (p.Leu4451Pro) c.13445T>C (p.Leu4482Pro) c.13349T>C (p.Leu4450Pro) c.13469T>C (p.Leu4490Pro) c.13397T>C (p.Leu4466Pro) c.13364T>C (p.Leu4455Pro) c.13280T>C (p.Leu4427Pro) c.12602T>C (p.Leu4201Pro) c.11063T>C (p.Leu3688Pro) c.13484T>C (p.Leu4495Pro) c.13466T>C (p.Leu4489Pro) c.13442T>C (p.Leu4481Pro) c.13370T>C (p.Leu4457Pro) c.13334T>C (p.Leu4445Pro) c.10187T>C (p.Leu3396Pro) c.9791T>C (p.Leu3264Pro) | |
7 | g.152148626A>T | CA370091628 | KMT2C | c.1489T>A n.2433T>A c.13472T>A (p.Leu4491Gln) n.2601T>A n.8493T>A c.3874T>A c.10811T>A (p.Leu3604Gln) n.4931T>A c.3946T>A n.2067T>A n.2017T>A c.1718T>A (p.Leu573Gln) c.8198T>A (p.Leu2733Gln) n.59T>A c.13301T>A (p.Leu4434Gln) c.9088T>A c.3943T>A c.3877T>A n.8012T>A c.8201T>A (p.Leu2734Gln) c.12866T>A (p.Leu4289Gln) c.3878T>A n.2316T>A c.5982T>A c.3152T>A (p.Leu1051Gln) n.11183T>A c.*10821T>A (n.*10821T>A) c.13517T>A (p.Leu4506Gln) c.13514T>A (p.Leu4505Gln) c.13352T>A (p.Leu4451Gln) c.13445T>A (p.Leu4482Gln) c.13349T>A (p.Leu4450Gln) c.13469T>A (p.Leu4490Gln) c.13397T>A (p.Leu4466Gln) c.13364T>A (p.Leu4455Gln) c.13280T>A (p.Leu4427Gln) c.12602T>A (p.Leu4201Gln) c.11063T>A (p.Leu3688Gln) c.13484T>A (p.Leu4495Gln) c.13466T>A (p.Leu4489Gln) c.13442T>A (p.Leu4481Gln) c.13370T>A (p.Leu4457Gln) c.13334T>A (p.Leu4445Gln) c.10187T>A (p.Leu3396Gln) c.9791T>A (p.Leu3264Gln) | |
7 | g.152148627G>A | CA458884849 | KMT2C | c.1488C>T n.2432C>T c.13471C>T (p.Leu4491=) n.2600C>T n.8492C>T c.3873C>T c.10810C>T (p.Leu3604=) n.4930C>T c.3945C>T n.2066C>T n.2016C>T c.1717C>T (p.Leu573=) c.8197C>T (p.Leu2733=) n.58C>T c.13300C>T (p.Leu4434=) c.9087C>T c.3942C>T c.3876C>T n.8011C>T c.8200C>T (p.Leu2734=) c.12865C>T (p.Leu4289=) c.3877C>T n.2315C>T c.5981C>T c.3151C>T (p.Leu1051=) n.11182C>T c.*10820C>T (n.*10820C>T) c.13516C>T (p.Leu4506=) c.13513C>T (p.Leu4505=) c.13351C>T (p.Leu4451=) c.13444C>T (p.Leu4482=) c.13348C>T (p.Leu4450=) c.13468C>T (p.Leu4490=) c.13396C>T (p.Leu4466=) c.13363C>T (p.Leu4455=) c.13279C>T (p.Leu4427=) c.12601C>T (p.Leu4201=) c.11062C>T (p.Leu3688=) c.13483C>T (p.Leu4495=) c.13465C>T (p.Leu4489=) c.13441C>T (p.Leu4481=) c.13369C>T (p.Leu4457=) c.13333C>T (p.Leu4445=) c.10186C>T (p.Leu3396=) c.9790C>T (p.Leu3264=) | gnomAD v4 |
7 | g.152148627G>C | CA370091629 | KMT2C | c.1488C>G n.2432C>G c.13471C>G (p.Leu4491Val) n.2600C>G n.8492C>G c.3873C>G c.10810C>G (p.Leu3604Val) n.4930C>G c.3945C>G n.2066C>G n.2016C>G c.1717C>G (p.Leu573Val) c.8197C>G (p.Leu2733Val) n.58C>G c.13300C>G (p.Leu4434Val) c.9087C>G c.3942C>G c.3876C>G n.8011C>G c.8200C>G (p.Leu2734Val) c.12865C>G (p.Leu4289Val) c.3877C>G n.2315C>G c.5981C>G c.3151C>G (p.Leu1051Val) n.11182C>G c.*10820C>G (n.*10820C>G) c.13516C>G (p.Leu4506Val) c.13513C>G (p.Leu4505Val) c.13351C>G (p.Leu4451Val) c.13444C>G (p.Leu4482Val) c.13348C>G (p.Leu4450Val) c.13468C>G (p.Leu4490Val) c.13396C>G (p.Leu4466Val) c.13363C>G (p.Leu4455Val) c.13279C>G (p.Leu4427Val) c.12601C>G (p.Leu4201Val) c.11062C>G (p.Leu3688Val) c.13483C>G (p.Leu4495Val) c.13465C>G (p.Leu4489Val) c.13441C>G (p.Leu4481Val) c.13369C>G (p.Leu4457Val) c.13333C>G (p.Leu4445Val) c.10186C>G (p.Leu3396Val) c.9790C>G (p.Leu3264Val) | |
7 | g.152148627G>T | CA370091631 | KMT2C | c.1488C>A n.2432C>A c.13471C>A (p.Leu4491Met) n.2600C>A n.8492C>A c.3873C>A c.10810C>A (p.Leu3604Met) n.4930C>A c.3945C>A n.2066C>A n.2016C>A c.1717C>A (p.Leu573Met) c.8197C>A (p.Leu2733Met) n.58C>A c.13300C>A (p.Leu4434Met) c.9087C>A c.3942C>A c.3876C>A n.8011C>A c.8200C>A (p.Leu2734Met) c.12865C>A (p.Leu4289Met) c.3877C>A n.2315C>A c.5981C>A c.3151C>A (p.Leu1051Met) n.11182C>A c.*10820C>A (n.*10820C>A) c.13516C>A (p.Leu4506Met) c.13513C>A (p.Leu4505Met) c.13351C>A (p.Leu4451Met) c.13444C>A (p.Leu4482Met) c.13348C>A (p.Leu4450Met) c.13468C>A (p.Leu4490Met) c.13396C>A (p.Leu4466Met) c.13363C>A (p.Leu4455Met) c.13279C>A (p.Leu4427Met) c.12601C>A (p.Leu4201Met) c.11062C>A (p.Leu3688Met) c.13483C>A (p.Leu4495Met) c.13465C>A (p.Leu4489Met) c.13441C>A (p.Leu4481Met) c.13369C>A (p.Leu4457Met) c.13333C>A (p.Leu4445Met) c.10186C>A (p.Leu3396Met) c.9790C>A (p.Leu3264Met) | |
7 | g.152148628A= | CA1752986040 | KMT2C | c.1487T= n.2431T= c.13470T= (p.Ala4490=) n.2599T= n.8491T= c.3872T= c.10809T= (p.Ala3603=) n.4929T= c.3944T= n.2065T= n.2015T= c.1716T= (p.Ala572=) c.8196T= (p.Ala2732=) n.57T= c.13299T= (p.Ala4433=) c.9086T= c.3941T= c.3875T= n.8010T= c.8199T= (p.Ala2733=) c.12864T= (p.Ala4288=) c.3876T= n.2314T= c.5980T= c.3150T= (p.Ala1050=) n.11181T= c.*10819T= (n.*10819T=) c.13515T= (p.Ala4505=) c.13512T= (p.Ala4504=) c.13350T= (p.Ala4450=) c.13443T= (p.Ala4481=) c.13347T= (p.Ala4449=) c.13467T= (p.Ala4489=) c.13395T= (p.Ala4465=) c.13362T= (p.Ala4454=) c.13278T= (p.Ala4426=) c.12600T= (p.Ala4200=) c.11061T= (p.Ala3687=) c.13482T= (p.Ala4494=) c.13464T= (p.Ala4488=) c.13440T= (p.Ala4480=) c.13368T= (p.Ala4456=) c.13332T= (p.Ala4444=) c.10185T= (p.Ala3395=) c.9789T= (p.Ala3263=) | |
7 | g.152148628A>C | CA458884850 | KMT2C | c.1487T>G n.2431T>G c.13470T>G (p.Ala4490=) n.2599T>G n.8491T>G c.3872T>G c.10809T>G (p.Ala3603=) n.4929T>G c.3944T>G n.2065T>G n.2015T>G c.1716T>G (p.Ala572=) c.8196T>G (p.Ala2732=) n.57T>G c.13299T>G (p.Ala4433=) c.9086T>G c.3941T>G c.3875T>G n.8010T>G c.8199T>G (p.Ala2733=) c.12864T>G (p.Ala4288=) c.3876T>G n.2314T>G c.5980T>G c.3150T>G (p.Ala1050=) n.11181T>G c.*10819T>G (n.*10819T>G) c.13515T>G (p.Ala4505=) c.13512T>G (p.Ala4504=) c.13350T>G (p.Ala4450=) c.13443T>G (p.Ala4481=) c.13347T>G (p.Ala4449=) c.13467T>G (p.Ala4489=) c.13395T>G (p.Ala4465=) c.13362T>G (p.Ala4454=) c.13278T>G (p.Ala4426=) c.12600T>G (p.Ala4200=) c.11061T>G (p.Ala3687=) c.13482T>G (p.Ala4494=) c.13464T>G (p.Ala4488=) c.13440T>G (p.Ala4480=) c.13368T>G (p.Ala4456=) c.13332T>G (p.Ala4444=) c.10185T>G (p.Ala3395=) c.9789T>G (p.Ala3263=) | |
7 | g.152148628A>G | CA458884851 | KMT2C | c.1487T>C n.2431T>C c.13470T>C (p.Ala4490=) n.2599T>C n.8491T>C c.3872T>C c.10809T>C (p.Ala3603=) n.4929T>C c.3944T>C n.2065T>C n.2015T>C c.1716T>C (p.Ala572=) c.8196T>C (p.Ala2732=) n.57T>C c.13299T>C (p.Ala4433=) c.9086T>C c.3941T>C c.3875T>C n.8010T>C c.8199T>C (p.Ala2733=) c.12864T>C (p.Ala4288=) c.3876T>C n.2314T>C c.5980T>C c.3150T>C (p.Ala1050=) n.11181T>C c.*10819T>C (n.*10819T>C) c.13515T>C (p.Ala4505=) c.13512T>C (p.Ala4504=) c.13350T>C (p.Ala4450=) c.13443T>C (p.Ala4481=) c.13347T>C (p.Ala4449=) c.13467T>C (p.Ala4489=) c.13395T>C (p.Ala4465=) c.13362T>C (p.Ala4454=) c.13278T>C (p.Ala4426=) c.12600T>C (p.Ala4200=) c.11061T>C (p.Ala3687=) c.13482T>C (p.Ala4494=) c.13464T>C (p.Ala4488=) c.13440T>C (p.Ala4480=) c.13368T>C (p.Ala4456=) c.13332T>C (p.Ala4444=) c.10185T>C (p.Ala3395=) c.9789T>C (p.Ala3263=) | dbSNP gnomAD v4 |
7 | g.152148628A>T | CA458884852 | KMT2C | c.1487T>A n.2431T>A c.13470T>A (p.Ala4490=) n.2599T>A n.8491T>A c.3872T>A c.10809T>A (p.Ala3603=) n.4929T>A c.3944T>A n.2065T>A n.2015T>A c.1716T>A (p.Ala572=) c.8196T>A (p.Ala2732=) n.57T>A c.13299T>A (p.Ala4433=) c.9086T>A c.3941T>A c.3875T>A n.8010T>A c.8199T>A (p.Ala2733=) c.12864T>A (p.Ala4288=) c.3876T>A n.2314T>A c.5980T>A c.3150T>A (p.Ala1050=) n.11181T>A c.*10819T>A (n.*10819T>A) c.13515T>A (p.Ala4505=) c.13512T>A (p.Ala4504=) c.13350T>A (p.Ala4450=) c.13443T>A (p.Ala4481=) c.13347T>A (p.Ala4449=) c.13467T>A (p.Ala4489=) c.13395T>A (p.Ala4465=) c.13362T>A (p.Ala4454=) c.13278T>A (p.Ala4426=) c.12600T>A (p.Ala4200=) c.11061T>A (p.Ala3687=) c.13482T>A (p.Ala4494=) c.13464T>A (p.Ala4488=) c.13440T>A (p.Ala4480=) c.13368T>A (p.Ala4456=) c.13332T>A (p.Ala4444=) c.10185T>A (p.Ala3395=) c.9789T>A (p.Ala3263=) | |
7 | g.152148629G>A | CA370091636 | KMT2C | c.1486C>T n.2430C>T c.13469C>T (p.Ala4490Val) n.2598C>T n.8490C>T c.3871C>T c.10808C>T (p.Ala3603Val) n.4928C>T c.3943C>T n.2064C>T n.2014C>T c.1715C>T (p.Ala572Val) c.8195C>T (p.Ala2732Val) n.56C>T c.13298C>T (p.Ala4433Val) c.9085C>T c.3940C>T c.3874C>T n.8009C>T c.8198C>T (p.Ala2733Val) c.12863C>T (p.Ala4288Val) c.3875C>T n.2313C>T c.5979C>T c.3149C>T (p.Ala1050Val) n.11180C>T c.*10818C>T (n.*10818C>T) c.13514C>T (p.Ala4505Val) c.13511C>T (p.Ala4504Val) c.13349C>T (p.Ala4450Val) c.13442C>T (p.Ala4481Val) c.13346C>T (p.Ala4449Val) c.13466C>T (p.Ala4489Val) c.13394C>T (p.Ala4465Val) c.13361C>T (p.Ala4454Val) c.13277C>T (p.Ala4426Val) c.12599C>T (p.Ala4200Val) c.11060C>T (p.Ala3687Val) c.13481C>T (p.Ala4494Val) c.13463C>T (p.Ala4488Val) c.13439C>T (p.Ala4480Val) c.13367C>T (p.Ala4456Val) c.13331C>T (p.Ala4444Val) c.10184C>T (p.Ala3395Val) c.9788C>T (p.Ala3263Val) | dbSNP gnomAD v4 COSMIC COSMIC |
7 | g.152148629G>C | CA370091634 | KMT2C | c.1486C>G n.2430C>G c.13469C>G (p.Ala4490Gly) n.2598C>G n.8490C>G c.3871C>G c.10808C>G (p.Ala3603Gly) n.4928C>G c.3943C>G n.2064C>G n.2014C>G c.1715C>G (p.Ala572Gly) c.8195C>G (p.Ala2732Gly) n.56C>G c.13298C>G (p.Ala4433Gly) c.9085C>G c.3940C>G c.3874C>G n.8009C>G c.8198C>G (p.Ala2733Gly) c.12863C>G (p.Ala4288Gly) c.3875C>G n.2313C>G c.5979C>G c.3149C>G (p.Ala1050Gly) n.11180C>G c.*10818C>G (n.*10818C>G) c.13514C>G (p.Ala4505Gly) c.13511C>G (p.Ala4504Gly) c.13349C>G (p.Ala4450Gly) c.13442C>G (p.Ala4481Gly) c.13346C>G (p.Ala4449Gly) c.13466C>G (p.Ala4489Gly) c.13394C>G (p.Ala4465Gly) c.13361C>G (p.Ala4454Gly) c.13277C>G (p.Ala4426Gly) c.12599C>G (p.Ala4200Gly) c.11060C>G (p.Ala3687Gly) c.13481C>G (p.Ala4494Gly) c.13463C>G (p.Ala4488Gly) c.13439C>G (p.Ala4480Gly) c.13367C>G (p.Ala4456Gly) c.13331C>G (p.Ala4444Gly) c.10184C>G (p.Ala3395Gly) c.9788C>G (p.Ala3263Gly) | |
7 | g.152148629G= | CA1752986051 | KMT2C | c.1486C= n.2430C= c.13469C= (p.Ala4490=) n.2598C= n.8490C= c.3871C= c.10808C= (p.Ala3603=) n.4928C= c.3943C= n.2064C= n.2014C= c.1715C= (p.Ala572=) c.8195C= (p.Ala2732=) n.56C= c.13298C= (p.Ala4433=) c.9085C= c.3940C= c.3874C= n.8009C= c.8198C= (p.Ala2733=) c.12863C= (p.Ala4288=) c.3875C= n.2313C= c.5979C= c.3149C= (p.Ala1050=) n.11180C= c.*10818C= (n.*10818C=) c.13514C= (p.Ala4505=) c.13511C= (p.Ala4504=) c.13349C= (p.Ala4450=) c.13442C= (p.Ala4481=) c.13346C= (p.Ala4449=) c.13466C= (p.Ala4489=) c.13394C= (p.Ala4465=) c.13361C= (p.Ala4454=) c.13277C= (p.Ala4426=) c.12599C= (p.Ala4200=) c.11060C= (p.Ala3687=) c.13481C= (p.Ala4494=) c.13463C= (p.Ala4488=) c.13439C= (p.Ala4480=) c.13367C= (p.Ala4456=) c.13331C= (p.Ala4444=) c.10184C= (p.Ala3395=) c.9788C= (p.Ala3263=) | |
7 | g.152148629G>T | CA370091633 | KMT2C | c.1486C>A n.2430C>A c.13469C>A (p.Ala4490Asp) n.2598C>A n.8490C>A c.3871C>A c.10808C>A (p.Ala3603Asp) n.4928C>A c.3943C>A n.2064C>A n.2014C>A c.1715C>A (p.Ala572Asp) c.8195C>A (p.Ala2732Asp) n.56C>A c.13298C>A (p.Ala4433Asp) c.9085C>A c.3940C>A c.3874C>A n.8009C>A c.8198C>A (p.Ala2733Asp) c.12863C>A (p.Ala4288Asp) c.3875C>A n.2313C>A c.5979C>A c.3149C>A (p.Ala1050Asp) n.11180C>A c.*10818C>A (n.*10818C>A) c.13514C>A (p.Ala4505Asp) c.13511C>A (p.Ala4504Asp) c.13349C>A (p.Ala4450Asp) c.13442C>A (p.Ala4481Asp) c.13346C>A (p.Ala4449Asp) c.13466C>A (p.Ala4489Asp) c.13394C>A (p.Ala4465Asp) c.13361C>A (p.Ala4454Asp) c.13277C>A (p.Ala4426Asp) c.12599C>A (p.Ala4200Asp) c.11060C>A (p.Ala3687Asp) c.13481C>A (p.Ala4494Asp) c.13463C>A (p.Ala4488Asp) c.13439C>A (p.Ala4480Asp) c.13367C>A (p.Ala4456Asp) c.13331C>A (p.Ala4444Asp) c.10184C>A (p.Ala3395Asp) c.9788C>A (p.Ala3263Asp) | |
7 | g.152148630C>A | CA370091639 | KMT2C | c.1485G>T n.2429G>T c.13468G>T (p.Ala4490Ser) n.2597G>T n.8489G>T c.3870G>T c.10807G>T (p.Ala3603Ser) n.4927G>T c.3942G>T n.2063G>T n.2013G>T c.1714G>T (p.Ala572Ser) c.8194G>T (p.Ala2732Ser) n.55G>T c.13297G>T (p.Ala4433Ser) c.9084G>T c.3939G>T c.3873G>T n.8008G>T c.8197G>T (p.Ala2733Ser) c.12862G>T (p.Ala4288Ser) c.3874G>T n.2312G>T c.5978G>T c.3148G>T (p.Ala1050Ser) n.11179G>T c.*10817G>T (n.*10817G>T) c.13513G>T (p.Ala4505Ser) c.13510G>T (p.Ala4504Ser) c.13348G>T (p.Ala4450Ser) c.13441G>T (p.Ala4481Ser) c.13345G>T (p.Ala4449Ser) c.13465G>T (p.Ala4489Ser) c.13393G>T (p.Ala4465Ser) c.13360G>T (p.Ala4454Ser) c.13276G>T (p.Ala4426Ser) c.12598G>T (p.Ala4200Ser) c.11059G>T (p.Ala3687Ser) c.13480G>T (p.Ala4494Ser) c.13462G>T (p.Ala4488Ser) c.13438G>T (p.Ala4480Ser) c.13366G>T (p.Ala4456Ser) c.13330G>T (p.Ala4444Ser) c.10183G>T (p.Ala3395Ser) c.9787G>T (p.Ala3263Ser) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.152148630C= | CA1752986059 | KMT2C | c.1485G= n.2429G= c.13468G= (p.Ala4490=) n.2597G= n.8489G= c.3870G= c.10807G= (p.Ala3603=) n.4927G= c.3942G= n.2063G= n.2013G= c.1714G= (p.Ala572=) c.8194G= (p.Ala2732=) n.55G= c.13297G= (p.Ala4433=) c.9084G= c.3939G= c.3873G= n.8008G= c.8197G= (p.Ala2733=) c.12862G= (p.Ala4288=) c.3874G= n.2312G= c.5978G= c.3148G= (p.Ala1050=) n.11179G= c.*10817G= (n.*10817G=) c.13513G= (p.Ala4505=) c.13510G= (p.Ala4504=) c.13348G= (p.Ala4450=) c.13441G= (p.Ala4481=) c.13345G= (p.Ala4449=) c.13465G= (p.Ala4489=) c.13393G= (p.Ala4465=) c.13360G= (p.Ala4454=) c.13276G= (p.Ala4426=) c.12598G= (p.Ala4200=) c.11059G= (p.Ala3687=) c.13480G= (p.Ala4494=) c.13462G= (p.Ala4488=) c.13438G= (p.Ala4480=) c.13366G= (p.Ala4456=) c.13330G= (p.Ala4444=) c.10183G= (p.Ala3395=) c.9787G= (p.Ala3263=) | |
7 | g.152148630C>G | CA370091638 | KMT2C | c.1485G>C n.2429G>C c.13468G>C (p.Ala4490Pro) n.2597G>C n.8489G>C c.3870G>C c.10807G>C (p.Ala3603Pro) n.4927G>C c.3942G>C n.2063G>C n.2013G>C c.1714G>C (p.Ala572Pro) c.8194G>C (p.Ala2732Pro) n.55G>C c.13297G>C (p.Ala4433Pro) c.9084G>C c.3939G>C c.3873G>C n.8008G>C c.8197G>C (p.Ala2733Pro) c.12862G>C (p.Ala4288Pro) c.3874G>C n.2312G>C c.5978G>C c.3148G>C (p.Ala1050Pro) n.11179G>C c.*10817G>C (n.*10817G>C) c.13513G>C (p.Ala4505Pro) c.13510G>C (p.Ala4504Pro) c.13348G>C (p.Ala4450Pro) c.13441G>C (p.Ala4481Pro) c.13345G>C (p.Ala4449Pro) c.13465G>C (p.Ala4489Pro) c.13393G>C (p.Ala4465Pro) c.13360G>C (p.Ala4454Pro) c.13276G>C (p.Ala4426Pro) c.12598G>C (p.Ala4200Pro) c.11059G>C (p.Ala3687Pro) c.13480G>C (p.Ala4494Pro) c.13462G>C (p.Ala4488Pro) c.13438G>C (p.Ala4480Pro) c.13366G>C (p.Ala4456Pro) c.13330G>C (p.Ala4444Pro) c.10183G>C (p.Ala3395Pro) c.9787G>C (p.Ala3263Pro) | |
7 | g.152148630C>T | CA4578645 | KMT2C | c.1485G>A n.2429G>A c.13468G>A (p.Ala4490Thr) n.2597G>A n.8489G>A c.3870G>A c.10807G>A (p.Ala3603Thr) n.4927G>A c.3942G>A n.2063G>A n.2013G>A c.1714G>A (p.Ala572Thr) c.8194G>A (p.Ala2732Thr) n.55G>A c.13297G>A (p.Ala4433Thr) c.9084G>A c.3939G>A c.3873G>A n.8008G>A c.8197G>A (p.Ala2733Thr) c.12862G>A (p.Ala4288Thr) c.3874G>A n.2312G>A c.5978G>A c.3148G>A (p.Ala1050Thr) n.11179G>A c.*10817G>A (n.*10817G>A) c.13513G>A (p.Ala4505Thr) c.13510G>A (p.Ala4504Thr) c.13348G>A (p.Ala4450Thr) c.13441G>A (p.Ala4481Thr) c.13345G>A (p.Ala4449Thr) c.13465G>A (p.Ala4489Thr) c.13393G>A (p.Ala4465Thr) c.13360G>A (p.Ala4454Thr) c.13276G>A (p.Ala4426Thr) c.12598G>A (p.Ala4200Thr) c.11059G>A (p.Ala3687Thr) c.13480G>A (p.Ala4494Thr) c.13462G>A (p.Ala4488Thr) c.13438G>A (p.Ala4480Thr) c.13366G>A (p.Ala4456Thr) c.13330G>A (p.Ala4444Thr) c.10183G>A (p.Ala3395Thr) c.9787G>A (p.Ala3263Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.152148631G>A | CA4578646 | KMT2C | c.1484C>T n.2428C>T c.13467C>T (p.Cys4489=) n.2596C>T n.8488C>T c.3869C>T c.10806C>T (p.Cys3602=) n.4926C>T c.3941C>T n.2062C>T n.2012C>T c.1713C>T (p.Cys571=) c.8193C>T (p.Cys2731=) n.54C>T c.13296C>T (p.Cys4432=) c.9083C>T c.3938C>T c.3872C>T n.8007C>T c.8196C>T (p.Cys2732=) c.12861C>T (p.Cys4287=) c.3873C>T n.2311C>T c.5977C>T c.3147C>T (p.Cys1049=) n.11178C>T c.*10816C>T (n.*10816C>T) c.13512C>T (p.Cys4504=) c.13509C>T (p.Cys4503=) c.13347C>T (p.Cys4449=) c.13440C>T (p.Cys4480=) c.13344C>T (p.Cys4448=) c.13464C>T (p.Cys4488=) c.13392C>T (p.Cys4464=) c.13359C>T (p.Cys4453=) c.13275C>T (p.Cys4425=) c.12597C>T (p.Cys4199=) c.11058C>T (p.Cys3686=) c.13479C>T (p.Cys4493=) c.13461C>T (p.Cys4487=) c.13437C>T (p.Cys4479=) c.13365C>T (p.Cys4455=) c.13329C>T (p.Cys4443=) c.10182C>T (p.Cys3394=) c.9786C>T (p.Cys3262=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.152148631G>C | CA370091642 | KMT2C | c.1484C>G n.2428C>G c.13467C>G (p.Cys4489Trp) n.2596C>G n.8488C>G c.3869C>G c.10806C>G (p.Cys3602Trp) n.4926C>G c.3941C>G n.2062C>G n.2012C>G c.1713C>G (p.Cys571Trp) c.8193C>G (p.Cys2731Trp) n.54C>G c.13296C>G (p.Cys4432Trp) c.9083C>G c.3938C>G c.3872C>G n.8007C>G c.8196C>G (p.Cys2732Trp) c.12861C>G (p.Cys4287Trp) c.3873C>G n.2311C>G c.5977C>G c.3147C>G (p.Cys1049Trp) n.11178C>G c.*10816C>G (n.*10816C>G) c.13512C>G (p.Cys4504Trp) c.13509C>G (p.Cys4503Trp) c.13347C>G (p.Cys4449Trp) c.13440C>G (p.Cys4480Trp) c.13344C>G (p.Cys4448Trp) c.13464C>G (p.Cys4488Trp) c.13392C>G (p.Cys4464Trp) c.13359C>G (p.Cys4453Trp) c.13275C>G (p.Cys4425Trp) c.12597C>G (p.Cys4199Trp) c.11058C>G (p.Cys3686Trp) c.13479C>G (p.Cys4493Trp) c.13461C>G (p.Cys4487Trp) c.13437C>G (p.Cys4479Trp) c.13365C>G (p.Cys4455Trp) c.13329C>G (p.Cys4443Trp) c.10182C>G (p.Cys3394Trp) c.9786C>G (p.Cys3262Trp) | |
7 | g.152148631G= | CA1752986063 | KMT2C | c.1484C= n.2428C= c.13467C= (p.Cys4489=) n.2596C= n.8488C= c.3869C= c.10806C= (p.Cys3602=) n.4926C= c.3941C= n.2062C= n.2012C= c.1713C= (p.Cys571=) c.8193C= (p.Cys2731=) n.54C= c.13296C= (p.Cys4432=) c.9083C= c.3938C= c.3872C= n.8007C= c.8196C= (p.Cys2732=) c.12861C= (p.Cys4287=) c.3873C= n.2311C= c.5977C= c.3147C= (p.Cys1049=) n.11178C= c.*10816C= (n.*10816C=) c.13512C= (p.Cys4504=) c.13509C= (p.Cys4503=) c.13347C= (p.Cys4449=) c.13440C= (p.Cys4480=) c.13344C= (p.Cys4448=) c.13464C= (p.Cys4488=) c.13392C= (p.Cys4464=) c.13359C= (p.Cys4453=) c.13275C= (p.Cys4425=) c.12597C= (p.Cys4199=) c.11058C= (p.Cys3686=) c.13479C= (p.Cys4493=) c.13461C= (p.Cys4487=) c.13437C= (p.Cys4479=) c.13365C= (p.Cys4455=) c.13329C= (p.Cys4443=) c.10182C= (p.Cys3394=) c.9786C= (p.Cys3262=) | |
7 | g.152148631G>T | CA370091644 | KMT2C | c.1484C>A n.2428C>A c.13467C>A (p.Cys4489Ter) n.2596C>A n.8488C>A c.3869C>A c.10806C>A (p.Cys3602Ter) n.4926C>A c.3941C>A n.2062C>A n.2012C>A c.1713C>A (p.Cys571Ter) c.8193C>A (p.Cys2731Ter) n.54C>A c.13296C>A (p.Cys4432Ter) c.9083C>A c.3938C>A c.3872C>A n.8007C>A c.8196C>A (p.Cys2732Ter) c.12861C>A (p.Cys4287Ter) c.3873C>A n.2311C>A c.5977C>A c.3147C>A (p.Cys1049Ter) n.11178C>A c.*10816C>A (n.*10816C>A) c.13512C>A (p.Cys4504Ter) c.13509C>A (p.Cys4503Ter) c.13347C>A (p.Cys4449Ter) c.13440C>A (p.Cys4480Ter) c.13344C>A (p.Cys4448Ter) c.13464C>A (p.Cys4488Ter) c.13392C>A (p.Cys4464Ter) c.13359C>A (p.Cys4453Ter) c.13275C>A (p.Cys4425Ter) c.12597C>A (p.Cys4199Ter) c.11058C>A (p.Cys3686Ter) c.13479C>A (p.Cys4493Ter) c.13461C>A (p.Cys4487Ter) c.13437C>A (p.Cys4479Ter) c.13365C>A (p.Cys4455Ter) c.13329C>A (p.Cys4443Ter) c.10182C>A (p.Cys3394Ter) c.9786C>A (p.Cys3262Ter) | |
7 | g.152148632C>A | CA370091646 | KMT2C | c.1483G>T n.2427G>T c.13466G>T (p.Cys4489Phe) n.2595G>T n.8487G>T c.3868G>T c.10805G>T (p.Cys3602Phe) n.4925G>T c.3940G>T n.2061G>T n.2011G>T c.1712G>T (p.Cys571Phe) c.8192G>T (p.Cys2731Phe) n.53G>T c.13295G>T (p.Cys4432Phe) c.9082G>T c.3937G>T c.3871G>T n.8006G>T c.8195G>T (p.Cys2732Phe) c.12860G>T (p.Cys4287Phe) c.3872G>T n.2310G>T c.5976G>T c.3146G>T (p.Cys1049Phe) n.11177G>T c.*10815G>T (n.*10815G>T) c.13511G>T (p.Cys4504Phe) c.13508G>T (p.Cys4503Phe) c.13346G>T (p.Cys4449Phe) c.13439G>T (p.Cys4480Phe) c.13343G>T (p.Cys4448Phe) c.13463G>T (p.Cys4488Phe) c.13391G>T (p.Cys4464Phe) c.13358G>T (p.Cys4453Phe) c.13274G>T (p.Cys4425Phe) c.12596G>T (p.Cys4199Phe) c.11057G>T (p.Cys3686Phe) c.13478G>T (p.Cys4493Phe) c.13460G>T (p.Cys4487Phe) c.13436G>T (p.Cys4479Phe) c.13364G>T (p.Cys4455Phe) c.13328G>T (p.Cys4443Phe) c.10181G>T (p.Cys3394Phe) c.9785G>T (p.Cys3262Phe) | |
7 | g.152148632C>G | CA370091647 | KMT2C | c.1483G>C n.2427G>C c.13466G>C (p.Cys4489Ser) n.2595G>C n.8487G>C c.3868G>C c.10805G>C (p.Cys3602Ser) n.4925G>C c.3940G>C n.2061G>C n.2011G>C c.1712G>C (p.Cys571Ser) c.8192G>C (p.Cys2731Ser) n.53G>C c.13295G>C (p.Cys4432Ser) c.9082G>C c.3937G>C c.3871G>C n.8006G>C c.8195G>C (p.Cys2732Ser) c.12860G>C (p.Cys4287Ser) c.3872G>C n.2310G>C c.5976G>C c.3146G>C (p.Cys1049Ser) n.11177G>C c.*10815G>C (n.*10815G>C) c.13511G>C (p.Cys4504Ser) c.13508G>C (p.Cys4503Ser) c.13346G>C (p.Cys4449Ser) c.13439G>C (p.Cys4480Ser) c.13343G>C (p.Cys4448Ser) c.13463G>C (p.Cys4488Ser) c.13391G>C (p.Cys4464Ser) c.13358G>C (p.Cys4453Ser) c.13274G>C (p.Cys4425Ser) c.12596G>C (p.Cys4199Ser) c.11057G>C (p.Cys3686Ser) c.13478G>C (p.Cys4493Ser) c.13460G>C (p.Cys4487Ser) c.13436G>C (p.Cys4479Ser) c.13364G>C (p.Cys4455Ser) c.13328G>C (p.Cys4443Ser) c.10181G>C (p.Cys3394Ser) c.9785G>C (p.Cys3262Ser) | |
7 | g.152148632C>T | CA370091648 | KMT2C | c.1483G>A n.2427G>A c.13466G>A (p.Cys4489Tyr) n.2595G>A n.8487G>A c.3868G>A c.10805G>A (p.Cys3602Tyr) n.4925G>A c.3940G>A n.2061G>A n.2011G>A c.1712G>A (p.Cys571Tyr) c.8192G>A (p.Cys2731Tyr) n.53G>A c.13295G>A (p.Cys4432Tyr) c.9082G>A c.3937G>A c.3871G>A n.8006G>A c.8195G>A (p.Cys2732Tyr) c.12860G>A (p.Cys4287Tyr) c.3872G>A n.2310G>A c.5976G>A c.3146G>A (p.Cys1049Tyr) n.11177G>A c.*10815G>A (n.*10815G>A) c.13511G>A (p.Cys4504Tyr) c.13508G>A (p.Cys4503Tyr) c.13346G>A (p.Cys4449Tyr) c.13439G>A (p.Cys4480Tyr) c.13343G>A (p.Cys4448Tyr) c.13463G>A (p.Cys4488Tyr) c.13391G>A (p.Cys4464Tyr) c.13358G>A (p.Cys4453Tyr) c.13274G>A (p.Cys4425Tyr) c.12596G>A (p.Cys4199Tyr) c.11057G>A (p.Cys3686Tyr) c.13478G>A (p.Cys4493Tyr) c.13460G>A (p.Cys4487Tyr) c.13436G>A (p.Cys4479Tyr) c.13364G>A (p.Cys4455Tyr) c.13328G>A (p.Cys4443Tyr) c.10181G>A (p.Cys3394Tyr) c.9785G>A (p.Cys3262Tyr) | dbSNP |
7 | g.152148633A>C | CA370091654 | KMT2C | c.1482T>G n.2426T>G c.13465T>G (p.Cys4489Gly) n.2594T>G n.8486T>G c.3867T>G c.10804T>G (p.Cys3602Gly) n.4924T>G c.3939T>G n.2060T>G n.2010T>G c.1711T>G (p.Cys571Gly) c.8191T>G (p.Cys2731Gly) n.52T>G c.13294T>G (p.Cys4432Gly) c.9081T>G c.3936T>G c.3870T>G n.8005T>G c.8194T>G (p.Cys2732Gly) c.12859T>G (p.Cys4287Gly) c.3871T>G n.2309T>G c.5975T>G c.3145T>G (p.Cys1049Gly) n.11176T>G c.*10814T>G (n.*10814T>G) c.13510T>G (p.Cys4504Gly) c.13507T>G (p.Cys4503Gly) c.13345T>G (p.Cys4449Gly) c.13438T>G (p.Cys4480Gly) c.13342T>G (p.Cys4448Gly) c.13462T>G (p.Cys4488Gly) c.13390T>G (p.Cys4464Gly) c.13357T>G (p.Cys4453Gly) c.13273T>G (p.Cys4425Gly) c.12595T>G (p.Cys4199Gly) c.11056T>G (p.Cys3686Gly) c.13477T>G (p.Cys4493Gly) c.13459T>G (p.Cys4487Gly) c.13435T>G (p.Cys4479Gly) c.13363T>G (p.Cys4455Gly) c.13327T>G (p.Cys4443Gly) c.10180T>G (p.Cys3394Gly) c.9784T>G (p.Cys3262Gly) | |
7 | g.152148633A>G | CA370091651 | KMT2C | c.1482T>C n.2426T>C c.13465T>C (p.Cys4489Arg) n.2594T>C n.8486T>C c.3867T>C c.10804T>C (p.Cys3602Arg) n.4924T>C c.3939T>C n.2060T>C n.2010T>C c.1711T>C (p.Cys571Arg) c.8191T>C (p.Cys2731Arg) n.52T>C c.13294T>C (p.Cys4432Arg) c.9081T>C c.3936T>C c.3870T>C n.8005T>C c.8194T>C (p.Cys2732Arg) c.12859T>C (p.Cys4287Arg) c.3871T>C n.2309T>C c.5975T>C c.3145T>C (p.Cys1049Arg) n.11176T>C c.*10814T>C (n.*10814T>C) c.13510T>C (p.Cys4504Arg) c.13507T>C (p.Cys4503Arg) c.13345T>C (p.Cys4449Arg) c.13438T>C (p.Cys4480Arg) c.13342T>C (p.Cys4448Arg) c.13462T>C (p.Cys4488Arg) c.13390T>C (p.Cys4464Arg) c.13357T>C (p.Cys4453Arg) c.13273T>C (p.Cys4425Arg) c.12595T>C (p.Cys4199Arg) c.11056T>C (p.Cys3686Arg) c.13477T>C (p.Cys4493Arg) c.13459T>C (p.Cys4487Arg) c.13435T>C (p.Cys4479Arg) c.13363T>C (p.Cys4455Arg) c.13327T>C (p.Cys4443Arg) c.10180T>C (p.Cys3394Arg) c.9784T>C (p.Cys3262Arg) | COSMIC COSMIC |
7 | g.152148633A>T | CA370091653 | KMT2C | c.1482T>A n.2426T>A c.13465T>A (p.Cys4489Ser) n.2594T>A n.8486T>A c.3867T>A c.10804T>A (p.Cys3602Ser) n.4924T>A c.3939T>A n.2060T>A n.2010T>A c.1711T>A (p.Cys571Ser) c.8191T>A (p.Cys2731Ser) n.52T>A c.13294T>A (p.Cys4432Ser) c.9081T>A c.3936T>A c.3870T>A n.8005T>A c.8194T>A (p.Cys2732Ser) c.12859T>A (p.Cys4287Ser) c.3871T>A n.2309T>A c.5975T>A c.3145T>A (p.Cys1049Ser) n.11176T>A c.*10814T>A (n.*10814T>A) c.13510T>A (p.Cys4504Ser) c.13507T>A (p.Cys4503Ser) c.13345T>A (p.Cys4449Ser) c.13438T>A (p.Cys4480Ser) c.13342T>A (p.Cys4448Ser) c.13462T>A (p.Cys4488Ser) c.13390T>A (p.Cys4464Ser) c.13357T>A (p.Cys4453Ser) c.13273T>A (p.Cys4425Ser) c.12595T>A (p.Cys4199Ser) c.11056T>A (p.Cys3686Ser) c.13477T>A (p.Cys4493Ser) c.13459T>A (p.Cys4487Ser) c.13435T>A (p.Cys4479Ser) c.13363T>A (p.Cys4455Ser) c.13327T>A (p.Cys4443Ser) c.10180T>A (p.Cys3394Ser) c.9784T>A (p.Cys3262Ser) | |
7 | g.152148634G>A | CA458884856 | KMT2C | c.1481C>T n.2425C>T c.13464C>T (p.Asn4488=) n.2593C>T n.8485C>T c.3866C>T c.10803C>T (p.Asn3601=) n.4923C>T c.3938C>T n.2059C>T n.2009C>T c.1710C>T (p.Asn570=) c.8190C>T (p.Asn2730=) n.51C>T c.13293C>T (p.Asn4431=) c.9080C>T c.3935C>T c.3869C>T n.8004C>T c.8193C>T (p.Asn2731=) c.12858C>T (p.Asn4286=) c.3870C>T n.2308C>T c.5974C>T c.3144C>T (p.Asn1048=) n.11175C>T c.*10813C>T (n.*10813C>T) c.13509C>T (p.Asn4503=) c.13506C>T (p.Asn4502=) c.13344C>T (p.Asn4448=) c.13437C>T (p.Asn4479=) c.13341C>T (p.Asn4447=) c.13461C>T (p.Asn4487=) c.13389C>T (p.Asn4463=) c.13356C>T (p.Asn4452=) c.13272C>T (p.Asn4424=) c.12594C>T (p.Asn4198=) c.11055C>T (p.Asn3685=) c.13476C>T (p.Asn4492=) c.13458C>T (p.Asn4486=) c.13434C>T (p.Asn4478=) c.13362C>T (p.Asn4454=) c.13326C>T (p.Asn4442=) c.10179C>T (p.Asn3393=) c.9783C>T (p.Asn3261=) | dbSNP |
7 | g.152148634G>C | CA370091656 | KMT2C | c.1481C>G n.2425C>G c.13464C>G (p.Asn4488Lys) n.2593C>G n.8485C>G c.3866C>G c.10803C>G (p.Asn3601Lys) n.4923C>G c.3938C>G n.2059C>G n.2009C>G c.1710C>G (p.Asn570Lys) c.8190C>G (p.Asn2730Lys) n.51C>G c.13293C>G (p.Asn4431Lys) c.9080C>G c.3935C>G c.3869C>G n.8004C>G c.8193C>G (p.Asn2731Lys) c.12858C>G (p.Asn4286Lys) c.3870C>G n.2308C>G c.5974C>G c.3144C>G (p.Asn1048Lys) n.11175C>G c.*10813C>G (n.*10813C>G) c.13509C>G (p.Asn4503Lys) c.13506C>G (p.Asn4502Lys) c.13344C>G (p.Asn4448Lys) c.13437C>G (p.Asn4479Lys) c.13341C>G (p.Asn4447Lys) c.13461C>G (p.Asn4487Lys) c.13389C>G (p.Asn4463Lys) c.13356C>G (p.Asn4452Lys) c.13272C>G (p.Asn4424Lys) c.12594C>G (p.Asn4198Lys) c.11055C>G (p.Asn3685Lys) c.13476C>G (p.Asn4492Lys) c.13458C>G (p.Asn4486Lys) c.13434C>G (p.Asn4478Lys) c.13362C>G (p.Asn4454Lys) c.13326C>G (p.Asn4442Lys) c.10179C>G (p.Asn3393Lys) c.9783C>G (p.Asn3261Lys) | |
7 | g.152148634G>T | CA370091658 | KMT2C | c.1481C>A n.2425C>A c.13464C>A (p.Asn4488Lys) n.2593C>A n.8485C>A c.3866C>A c.10803C>A (p.Asn3601Lys) n.4923C>A c.3938C>A n.2059C>A n.2009C>A c.1710C>A (p.Asn570Lys) c.8190C>A (p.Asn2730Lys) n.51C>A c.13293C>A (p.Asn4431Lys) c.9080C>A c.3935C>A c.3869C>A n.8004C>A c.8193C>A (p.Asn2731Lys) c.12858C>A (p.Asn4286Lys) c.3870C>A n.2308C>A c.5974C>A c.3144C>A (p.Asn1048Lys) n.11175C>A c.*10813C>A (n.*10813C>A) c.13509C>A (p.Asn4503Lys) c.13506C>A (p.Asn4502Lys) c.13344C>A (p.Asn4448Lys) c.13437C>A (p.Asn4479Lys) c.13341C>A (p.Asn4447Lys) c.13461C>A (p.Asn4487Lys) c.13389C>A (p.Asn4463Lys) c.13356C>A (p.Asn4452Lys) c.13272C>A (p.Asn4424Lys) c.12594C>A (p.Asn4198Lys) c.11055C>A (p.Asn3685Lys) c.13476C>A (p.Asn4492Lys) c.13458C>A (p.Asn4486Lys) c.13434C>A (p.Asn4478Lys) c.13362C>A (p.Asn4454Lys) c.13326C>A (p.Asn4442Lys) c.10179C>A (p.Asn3393Lys) c.9783C>A (p.Asn3261Lys) | |
7 | g.152148635T>A | CA370091660 | KMT2C | c.1480A>T n.2424A>T c.13463A>T (p.Asn4488Ile) n.2592A>T n.8484A>T c.3865A>T c.10802A>T (p.Asn3601Ile) n.4922A>T c.3937A>T n.2058A>T n.2008A>T c.1709A>T (p.Asn570Ile) c.8189A>T (p.Asn2730Ile) n.50A>T c.13292A>T (p.Asn4431Ile) c.9079A>T c.3934A>T c.3868A>T n.8003A>T c.8192A>T (p.Asn2731Ile) c.12857A>T (p.Asn4286Ile) c.3869A>T n.2307A>T c.5973A>T c.3143A>T (p.Asn1048Ile) n.11174A>T c.*10812A>T (n.*10812A>T) c.13508A>T (p.Asn4503Ile) c.13505A>T (p.Asn4502Ile) c.13343A>T (p.Asn4448Ile) c.13436A>T (p.Asn4479Ile) c.13340A>T (p.Asn4447Ile) c.13460A>T (p.Asn4487Ile) c.13388A>T (p.Asn4463Ile) c.13355A>T (p.Asn4452Ile) c.13271A>T (p.Asn4424Ile) c.12593A>T (p.Asn4198Ile) c.11054A>T (p.Asn3685Ile) c.13475A>T (p.Asn4492Ile) c.13457A>T (p.Asn4486Ile) c.13433A>T (p.Asn4478Ile) c.13361A>T (p.Asn4454Ile) c.13325A>T (p.Asn4442Ile) c.10178A>T (p.Asn3393Ile) c.9782A>T (p.Asn3261Ile) | |
7 | g.152148635T>C | CA370091661 | KMT2C | c.1480A>G n.2424A>G c.13463A>G (p.Asn4488Ser) n.2592A>G n.8484A>G c.3865A>G c.10802A>G (p.Asn3601Ser) n.4922A>G c.3937A>G n.2058A>G n.2008A>G c.1709A>G (p.Asn570Ser) c.8189A>G (p.Asn2730Ser) n.50A>G c.13292A>G (p.Asn4431Ser) c.9079A>G c.3934A>G c.3868A>G n.8003A>G c.8192A>G (p.Asn2731Ser) c.12857A>G (p.Asn4286Ser) c.3869A>G n.2307A>G c.5973A>G c.3143A>G (p.Asn1048Ser) n.11174A>G c.*10812A>G (n.*10812A>G) c.13508A>G (p.Asn4503Ser) c.13505A>G (p.Asn4502Ser) c.13343A>G (p.Asn4448Ser) c.13436A>G (p.Asn4479Ser) c.13340A>G (p.Asn4447Ser) c.13460A>G (p.Asn4487Ser) c.13388A>G (p.Asn4463Ser) c.13355A>G (p.Asn4452Ser) c.13271A>G (p.Asn4424Ser) c.12593A>G (p.Asn4198Ser) c.11054A>G (p.Asn3685Ser) c.13475A>G (p.Asn4492Ser) c.13457A>G (p.Asn4486Ser) c.13433A>G (p.Asn4478Ser) c.13361A>G (p.Asn4454Ser) c.13325A>G (p.Asn4442Ser) c.10178A>G (p.Asn3393Ser) c.9782A>G (p.Asn3261Ser) | |
7 | g.152148635T>G | CA370091663 | KMT2C | c.1480A>C n.2424A>C c.13463A>C (p.Asn4488Thr) n.2592A>C n.8484A>C c.3865A>C c.10802A>C (p.Asn3601Thr) n.4922A>C c.3937A>C n.2058A>C n.2008A>C c.1709A>C (p.Asn570Thr) c.8189A>C (p.Asn2730Thr) n.50A>C c.13292A>C (p.Asn4431Thr) c.9079A>C c.3934A>C c.3868A>C n.8003A>C c.8192A>C (p.Asn2731Thr) c.12857A>C (p.Asn4286Thr) c.3869A>C n.2307A>C c.5973A>C c.3143A>C (p.Asn1048Thr) n.11174A>C c.*10812A>C (n.*10812A>C) c.13508A>C (p.Asn4503Thr) c.13505A>C (p.Asn4502Thr) c.13343A>C (p.Asn4448Thr) c.13436A>C (p.Asn4479Thr) c.13340A>C (p.Asn4447Thr) c.13460A>C (p.Asn4487Thr) c.13388A>C (p.Asn4463Thr) c.13355A>C (p.Asn4452Thr) c.13271A>C (p.Asn4424Thr) c.12593A>C (p.Asn4198Thr) c.11054A>C (p.Asn3685Thr) c.13475A>C (p.Asn4492Thr) c.13457A>C (p.Asn4486Thr) c.13433A>C (p.Asn4478Thr) c.13361A>C (p.Asn4454Thr) c.13325A>C (p.Asn4442Thr) c.10178A>C (p.Asn3393Thr) c.9782A>C (p.Asn3261Thr) | |
7 | g.152148636T>A | CA370091665 | KMT2C | c.1479A>T n.2423A>T c.13462A>T (p.Asn4488Tyr) n.2591A>T n.8483A>T c.3864A>T c.10801A>T (p.Asn3601Tyr) n.4921A>T c.3936A>T n.2057A>T n.2007A>T c.1708A>T (p.Asn570Tyr) c.8188A>T (p.Asn2730Tyr) n.49A>T c.13291A>T (p.Asn4431Tyr) c.9078A>T c.3933A>T c.3867A>T n.8002A>T c.8191A>T (p.Asn2731Tyr) c.12856A>T (p.Asn4286Tyr) c.3868A>T n.2306A>T c.5972A>T c.3142A>T (p.Asn1048Tyr) n.11173A>T c.*10811A>T (n.*10811A>T) c.13507A>T (p.Asn4503Tyr) c.13504A>T (p.Asn4502Tyr) c.13342A>T (p.Asn4448Tyr) c.13435A>T (p.Asn4479Tyr) c.13339A>T (p.Asn4447Tyr) c.13459A>T (p.Asn4487Tyr) c.13387A>T (p.Asn4463Tyr) c.13354A>T (p.Asn4452Tyr) c.13270A>T (p.Asn4424Tyr) c.12592A>T (p.Asn4198Tyr) c.11053A>T (p.Asn3685Tyr) c.13474A>T (p.Asn4492Tyr) c.13456A>T (p.Asn4486Tyr) c.13432A>T (p.Asn4478Tyr) c.13360A>T (p.Asn4454Tyr) c.13324A>T (p.Asn4442Tyr) c.10177A>T (p.Asn3393Tyr) c.9781A>T (p.Asn3261Tyr) | |
7 | g.152148636T>C | CA370091668 | KMT2C | c.1479A>G n.2423A>G c.13462A>G (p.Asn4488Asp) n.2591A>G n.8483A>G c.3864A>G c.10801A>G (p.Asn3601Asp) n.4921A>G c.3936A>G n.2057A>G n.2007A>G c.1708A>G (p.Asn570Asp) c.8188A>G (p.Asn2730Asp) n.49A>G c.13291A>G (p.Asn4431Asp) c.9078A>G c.3933A>G c.3867A>G n.8002A>G c.8191A>G (p.Asn2731Asp) c.12856A>G (p.Asn4286Asp) c.3868A>G n.2306A>G c.5972A>G c.3142A>G (p.Asn1048Asp) n.11173A>G c.*10811A>G (n.*10811A>G) c.13507A>G (p.Asn4503Asp) c.13504A>G (p.Asn4502Asp) c.13342A>G (p.Asn4448Asp) c.13435A>G (p.Asn4479Asp) c.13339A>G (p.Asn4447Asp) c.13459A>G (p.Asn4487Asp) c.13387A>G (p.Asn4463Asp) c.13354A>G (p.Asn4452Asp) c.13270A>G (p.Asn4424Asp) c.12592A>G (p.Asn4198Asp) c.11053A>G (p.Asn3685Asp) c.13474A>G (p.Asn4492Asp) c.13456A>G (p.Asn4486Asp) c.13432A>G (p.Asn4478Asp) c.13360A>G (p.Asn4454Asp) c.13324A>G (p.Asn4442Asp) c.10177A>G (p.Asn3393Asp) c.9781A>G (p.Asn3261Asp) | |
7 | g.152148636T>G | CA370091667 | KMT2C | c.1479A>C n.2423A>C c.13462A>C (p.Asn4488His) n.2591A>C n.8483A>C c.3864A>C c.10801A>C (p.Asn3601His) n.4921A>C c.3936A>C n.2057A>C n.2007A>C c.1708A>C (p.Asn570His) c.8188A>C (p.Asn2730His) n.49A>C c.13291A>C (p.Asn4431His) c.9078A>C c.3933A>C c.3867A>C n.8002A>C c.8191A>C (p.Asn2731His) c.12856A>C (p.Asn4286His) c.3868A>C n.2306A>C c.5972A>C c.3142A>C (p.Asn1048His) n.11173A>C c.*10811A>C (n.*10811A>C) c.13507A>C (p.Asn4503His) c.13504A>C (p.Asn4502His) c.13342A>C (p.Asn4448His) c.13435A>C (p.Asn4479His) c.13339A>C (p.Asn4447His) c.13459A>C (p.Asn4487His) c.13387A>C (p.Asn4463His) c.13354A>C (p.Asn4452His) c.13270A>C (p.Asn4424His) c.12592A>C (p.Asn4198His) c.11053A>C (p.Asn3685His) c.13474A>C (p.Asn4492His) c.13456A>C (p.Asn4486His) c.13432A>C (p.Asn4478His) c.13360A>C (p.Asn4454His) c.13324A>C (p.Asn4442His) c.10177A>C (p.Asn3393His) c.9781A>C (p.Asn3261His) | |
7 | g.152148637C>A | CA370091670 | KMT2C | c.1478G>T n.2422G>T c.13461G>T (p.Leu4487Phe) n.2590G>T n.8482G>T c.3863G>T c.10800G>T (p.Leu3600Phe) n.4920G>T c.3935G>T n.2056G>T n.2006G>T c.1707G>T (p.Leu569Phe) c.8187G>T (p.Leu2729Phe) n.48G>T c.13290G>T (p.Leu4430Phe) c.9077G>T c.3932G>T c.3866G>T n.8001G>T c.8190G>T (p.Leu2730Phe) c.12855G>T (p.Leu4285Phe) c.3867G>T n.2305G>T c.5971G>T c.3141G>T (p.Leu1047Phe) n.11172G>T c.*10810G>T (n.*10810G>T) c.13506G>T (p.Leu4502Phe) c.13503G>T (p.Leu4501Phe) c.13341G>T (p.Leu4447Phe) c.13434G>T (p.Leu4478Phe) c.13338G>T (p.Leu4446Phe) c.13458G>T (p.Leu4486Phe) c.13386G>T (p.Leu4462Phe) c.13353G>T (p.Leu4451Phe) c.13269G>T (p.Leu4423Phe) c.12591G>T (p.Leu4197Phe) c.11052G>T (p.Leu3684Phe) c.13473G>T (p.Leu4491Phe) c.13455G>T (p.Leu4485Phe) c.13431G>T (p.Leu4477Phe) c.13359G>T (p.Leu4453Phe) c.13323G>T (p.Leu4441Phe) c.10176G>T (p.Leu3392Phe) c.9780G>T (p.Leu3260Phe) | COSMIC COSMIC |
7 | g.152148637C>G | CA370091671 | KMT2C | c.1478G>C n.2422G>C c.13461G>C (p.Leu4487Phe) n.2590G>C n.8482G>C c.3863G>C c.10800G>C (p.Leu3600Phe) n.4920G>C c.3935G>C n.2056G>C n.2006G>C c.1707G>C (p.Leu569Phe) c.8187G>C (p.Leu2729Phe) n.48G>C c.13290G>C (p.Leu4430Phe) c.9077G>C c.3932G>C c.3866G>C n.8001G>C c.8190G>C (p.Leu2730Phe) c.12855G>C (p.Leu4285Phe) c.3867G>C n.2305G>C c.5971G>C c.3141G>C (p.Leu1047Phe) n.11172G>C c.*10810G>C (n.*10810G>C) c.13506G>C (p.Leu4502Phe) c.13503G>C (p.Leu4501Phe) c.13341G>C (p.Leu4447Phe) c.13434G>C (p.Leu4478Phe) c.13338G>C (p.Leu4446Phe) c.13458G>C (p.Leu4486Phe) c.13386G>C (p.Leu4462Phe) c.13353G>C (p.Leu4451Phe) c.13269G>C (p.Leu4423Phe) c.12591G>C (p.Leu4197Phe) c.11052G>C (p.Leu3684Phe) c.13473G>C (p.Leu4491Phe) c.13455G>C (p.Leu4485Phe) c.13431G>C (p.Leu4477Phe) c.13359G>C (p.Leu4453Phe) c.13323G>C (p.Leu4441Phe) c.10176G>C (p.Leu3392Phe) c.9780G>C (p.Leu3260Phe) | |
7 | g.152148637C>T | CA458884859 | KMT2C | c.1478G>A n.2422G>A c.13461G>A (p.Leu4487=) n.2590G>A n.8482G>A c.3863G>A c.10800G>A (p.Leu3600=) n.4920G>A c.3935G>A n.2056G>A n.2006G>A c.1707G>A (p.Leu569=) c.8187G>A (p.Leu2729=) n.48G>A c.13290G>A (p.Leu4430=) c.9077G>A c.3932G>A c.3866G>A n.8001G>A c.8190G>A (p.Leu2730=) c.12855G>A (p.Leu4285=) c.3867G>A n.2305G>A c.5971G>A c.3141G>A (p.Leu1047=) n.11172G>A c.*10810G>A (n.*10810G>A) c.13506G>A (p.Leu4502=) c.13503G>A (p.Leu4501=) c.13341G>A (p.Leu4447=) c.13434G>A (p.Leu4478=) c.13338G>A (p.Leu4446=) c.13458G>A (p.Leu4486=) c.13386G>A (p.Leu4462=) c.13353G>A (p.Leu4451=) c.13269G>A (p.Leu4423=) c.12591G>A (p.Leu4197=) c.11052G>A (p.Leu3684=) c.13473G>A (p.Leu4491=) c.13455G>A (p.Leu4485=) c.13431G>A (p.Leu4477=) c.13359G>A (p.Leu4453=) c.13323G>A (p.Leu4441=) c.10176G>A (p.Leu3392=) c.9780G>A (p.Leu3260=) | |
7 | g.152148638A>C | CA370091673 | KMT2C | c.1477T>G n.2421T>G c.13460T>G (p.Leu4487Trp) n.2589T>G n.8481T>G c.3862T>G c.10799T>G (p.Leu3600Trp) n.4919T>G c.3934T>G n.2055T>G n.2005T>G c.1706T>G (p.Leu569Trp) c.8186T>G (p.Leu2729Trp) n.47T>G c.13289T>G (p.Leu4430Trp) c.9076T>G c.3931T>G c.3865T>G n.8000T>G c.8189T>G (p.Leu2730Trp) c.12854T>G (p.Leu4285Trp) c.3866T>G n.2304T>G c.5970T>G c.3140T>G (p.Leu1047Trp) n.11171T>G c.*10809T>G (n.*10809T>G) c.13505T>G (p.Leu4502Trp) c.13502T>G (p.Leu4501Trp) c.13340T>G (p.Leu4447Trp) c.13433T>G (p.Leu4478Trp) c.13337T>G (p.Leu4446Trp) c.13457T>G (p.Leu4486Trp) c.13385T>G (p.Leu4462Trp) c.13352T>G (p.Leu4451Trp) c.13268T>G (p.Leu4423Trp) c.12590T>G (p.Leu4197Trp) c.11051T>G (p.Leu3684Trp) c.13472T>G (p.Leu4491Trp) c.13454T>G (p.Leu4485Trp) c.13430T>G (p.Leu4477Trp) c.13358T>G (p.Leu4453Trp) c.13322T>G (p.Leu4441Trp) c.10175T>G (p.Leu3392Trp) c.9779T>G (p.Leu3260Trp) | |
7 | g.152148638A>G | CA370091675 | KMT2C | c.1477T>C n.2421T>C c.13460T>C (p.Leu4487Ser) n.2589T>C n.8481T>C c.3862T>C c.10799T>C (p.Leu3600Ser) n.4919T>C c.3934T>C n.2055T>C n.2005T>C c.1706T>C (p.Leu569Ser) c.8186T>C (p.Leu2729Ser) n.47T>C c.13289T>C (p.Leu4430Ser) c.9076T>C c.3931T>C c.3865T>C n.8000T>C c.8189T>C (p.Leu2730Ser) c.12854T>C (p.Leu4285Ser) c.3866T>C n.2304T>C c.5970T>C c.3140T>C (p.Leu1047Ser) n.11171T>C c.*10809T>C (n.*10809T>C) c.13505T>C (p.Leu4502Ser) c.13502T>C (p.Leu4501Ser) c.13340T>C (p.Leu4447Ser) c.13433T>C (p.Leu4478Ser) c.13337T>C (p.Leu4446Ser) c.13457T>C (p.Leu4486Ser) c.13385T>C (p.Leu4462Ser) c.13352T>C (p.Leu4451Ser) c.13268T>C (p.Leu4423Ser) c.12590T>C (p.Leu4197Ser) c.11051T>C (p.Leu3684Ser) c.13472T>C (p.Leu4491Ser) c.13454T>C (p.Leu4485Ser) c.13430T>C (p.Leu4477Ser) c.13358T>C (p.Leu4453Ser) c.13322T>C (p.Leu4441Ser) c.10175T>C (p.Leu3392Ser) c.9779T>C (p.Leu3260Ser) | |
7 | g.152148638A>T | CA370091677 | KMT2C | c.1477T>A n.2421T>A c.13460T>A (p.Leu4487Ter) n.2589T>A n.8481T>A c.3862T>A c.10799T>A (p.Leu3600Ter) n.4919T>A c.3934T>A n.2055T>A n.2005T>A c.1706T>A (p.Leu569Ter) c.8186T>A (p.Leu2729Ter) n.47T>A c.13289T>A (p.Leu4430Ter) c.9076T>A c.3931T>A c.3865T>A n.8000T>A c.8189T>A (p.Leu2730Ter) c.12854T>A (p.Leu4285Ter) c.3866T>A n.2304T>A c.5970T>A c.3140T>A (p.Leu1047Ter) n.11171T>A c.*10809T>A (n.*10809T>A) c.13505T>A (p.Leu4502Ter) c.13502T>A (p.Leu4501Ter) c.13340T>A (p.Leu4447Ter) c.13433T>A (p.Leu4478Ter) c.13337T>A (p.Leu4446Ter) c.13457T>A (p.Leu4486Ter) c.13385T>A (p.Leu4462Ter) c.13352T>A (p.Leu4451Ter) c.13268T>A (p.Leu4423Ter) c.12590T>A (p.Leu4197Ter) c.11051T>A (p.Leu3684Ter) c.13472T>A (p.Leu4491Ter) c.13454T>A (p.Leu4485Ter) c.13430T>A (p.Leu4477Ter) c.13358T>A (p.Leu4453Ter) c.13322T>A (p.Leu4441Ter) c.10175T>A (p.Leu3392Ter) c.9779T>A (p.Leu3260Ter) | |
7 | g.152148639A= | CA1752986081 | KMT2C | c.1476T= n.2420T= c.13459T= (p.Leu4487=) n.2588T= n.8480T= c.3861T= c.10798T= (p.Leu3600=) n.4918T= c.3933T= n.2054T= n.2004T= c.1705T= (p.Leu569=) c.8185T= (p.Leu2729=) n.46T= c.13288T= (p.Leu4430=) c.9075T= c.3930T= c.3864T= n.7999T= c.8188T= (p.Leu2730=) c.12853T= (p.Leu4285=) c.3865T= n.2303T= c.5969T= c.3139T= (p.Leu1047=) n.11170T= c.*10808T= (n.*10808T=) c.13504T= (p.Leu4502=) c.13501T= (p.Leu4501=) c.13339T= (p.Leu4447=) c.13432T= (p.Leu4478=) c.13336T= (p.Leu4446=) c.13456T= (p.Leu4486=) c.13384T= (p.Leu4462=) c.13351T= (p.Leu4451=) c.13267T= (p.Leu4423=) c.12589T= (p.Leu4197=) c.11050T= (p.Leu3684=) c.13471T= (p.Leu4491=) c.13453T= (p.Leu4485=) c.13429T= (p.Leu4477=) c.13357T= (p.Leu4453=) c.13321T= (p.Leu4441=) c.10174T= (p.Leu3392=) c.9778T= (p.Leu3260=) | |
7 | g.152148639A>C | CA370091678 | KMT2C | c.1476T>G n.2420T>G c.13459T>G (p.Leu4487Val) n.2588T>G n.8480T>G c.3861T>G c.10798T>G (p.Leu3600Val) n.4918T>G c.3933T>G n.2054T>G n.2004T>G c.1705T>G (p.Leu569Val) c.8185T>G (p.Leu2729Val) n.46T>G c.13288T>G (p.Leu4430Val) c.9075T>G c.3930T>G c.3864T>G n.7999T>G c.8188T>G (p.Leu2730Val) c.12853T>G (p.Leu4285Val) c.3865T>G n.2303T>G c.5969T>G c.3139T>G (p.Leu1047Val) n.11170T>G c.*10808T>G (n.*10808T>G) c.13504T>G (p.Leu4502Val) c.13501T>G (p.Leu4501Val) c.13339T>G (p.Leu4447Val) c.13432T>G (p.Leu4478Val) c.13336T>G (p.Leu4446Val) c.13456T>G (p.Leu4486Val) c.13384T>G (p.Leu4462Val) c.13351T>G (p.Leu4451Val) c.13267T>G (p.Leu4423Val) c.12589T>G (p.Leu4197Val) c.11050T>G (p.Leu3684Val) c.13471T>G (p.Leu4491Val) c.13453T>G (p.Leu4485Val) c.13429T>G (p.Leu4477Val) c.13357T>G (p.Leu4453Val) c.13321T>G (p.Leu4441Val) c.10174T>G (p.Leu3392Val) c.9778T>G (p.Leu3260Val) | |
7 | g.152148639A>G | CA4578647 | KMT2C | c.1476T>C n.2420T>C c.13459T>C (p.Leu4487=) n.2588T>C n.8480T>C c.3861T>C c.10798T>C (p.Leu3600=) n.4918T>C c.3933T>C n.2054T>C n.2004T>C c.1705T>C (p.Leu569=) c.8185T>C (p.Leu2729=) n.46T>C c.13288T>C (p.Leu4430=) c.9075T>C c.3930T>C c.3864T>C n.7999T>C c.8188T>C (p.Leu2730=) c.12853T>C (p.Leu4285=) c.3865T>C n.2303T>C c.5969T>C c.3139T>C (p.Leu1047=) n.11170T>C c.*10808T>C (n.*10808T>C) c.13504T>C (p.Leu4502=) c.13501T>C (p.Leu4501=) c.13339T>C (p.Leu4447=) c.13432T>C (p.Leu4478=) c.13336T>C (p.Leu4446=) c.13456T>C (p.Leu4486=) c.13384T>C (p.Leu4462=) c.13351T>C (p.Leu4451=) c.13267T>C (p.Leu4423=) c.12589T>C (p.Leu4197=) c.11050T>C (p.Leu3684=) c.13471T>C (p.Leu4491=) c.13453T>C (p.Leu4485=) c.13429T>C (p.Leu4477=) c.13357T>C (p.Leu4453=) c.13321T>C (p.Leu4441=) c.10174T>C (p.Leu3392=) c.9778T>C (p.Leu3260=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.152148639A>T | CA370091680 | KMT2C | c.1476T>A n.2420T>A c.13459T>A (p.Leu4487Met) n.2588T>A n.8480T>A c.3861T>A c.10798T>A (p.Leu3600Met) n.4918T>A c.3933T>A n.2054T>A n.2004T>A c.1705T>A (p.Leu569Met) c.8185T>A (p.Leu2729Met) n.46T>A c.13288T>A (p.Leu4430Met) c.9075T>A c.3930T>A c.3864T>A n.7999T>A c.8188T>A (p.Leu2730Met) c.12853T>A (p.Leu4285Met) c.3865T>A n.2303T>A c.5969T>A c.3139T>A (p.Leu1047Met) n.11170T>A c.*10808T>A (n.*10808T>A) c.13504T>A (p.Leu4502Met) c.13501T>A (p.Leu4501Met) c.13339T>A (p.Leu4447Met) c.13432T>A (p.Leu4478Met) c.13336T>A (p.Leu4446Met) c.13456T>A (p.Leu4486Met) c.13384T>A (p.Leu4462Met) c.13351T>A (p.Leu4451Met) c.13267T>A (p.Leu4423Met) c.12589T>A (p.Leu4197Met) c.11050T>A (p.Leu3684Met) c.13471T>A (p.Leu4491Met) c.13453T>A (p.Leu4485Met) c.13429T>A (p.Leu4477Met) c.13357T>A (p.Leu4453Met) c.13321T>A (p.Leu4441Met) c.10174T>A (p.Leu3392Met) c.9778T>A (p.Leu3260Met) | |
7 | g.152148640G>A | CA458884864 | KMT2C | c.1475C>T n.2419C>T c.13458C>T (p.His4486=) n.2587C>T n.8479C>T c.3860C>T c.10797C>T (p.His3599=) n.4917C>T c.3932C>T n.2053C>T n.2003C>T c.1704C>T (p.His568=) c.8184C>T (p.His2728=) n.45C>T c.13287C>T (p.His4429=) c.9074C>T c.3929C>T c.3863C>T n.7998C>T c.8187C>T (p.His2729=) c.12852C>T (p.His4284=) c.3864C>T n.2302C>T c.5968C>T c.3138C>T (p.His1046=) n.11169C>T c.*10807C>T (n.*10807C>T) c.13503C>T (p.His4501=) c.13500C>T (p.His4500=) c.13338C>T (p.His4446=) c.13431C>T (p.His4477=) c.13335C>T (p.His4445=) c.13455C>T (p.His4485=) c.13383C>T (p.His4461=) c.13350C>T (p.His4450=) c.13266C>T (p.His4422=) c.12588C>T (p.His4196=) c.11049C>T (p.His3683=) c.13470C>T (p.His4490=) c.13452C>T (p.His4484=) c.13428C>T (p.His4476=) c.13356C>T (p.His4452=) c.13320C>T (p.His4440=) c.10173C>T (p.His3391=) c.9777C>T (p.His3259=) | |
7 | g.152148640G>C | CA370091681 | KMT2C | c.1475C>G n.2419C>G c.13458C>G (p.His4486Gln) n.2587C>G n.8479C>G c.3860C>G c.10797C>G (p.His3599Gln) n.4917C>G c.3932C>G n.2053C>G n.2003C>G c.1704C>G (p.His568Gln) c.8184C>G (p.His2728Gln) n.45C>G c.13287C>G (p.His4429Gln) c.9074C>G c.3929C>G c.3863C>G n.7998C>G c.8187C>G (p.His2729Gln) c.12852C>G (p.His4284Gln) c.3864C>G n.2302C>G c.5968C>G c.3138C>G (p.His1046Gln) n.11169C>G c.*10807C>G (n.*10807C>G) c.13503C>G (p.His4501Gln) c.13500C>G (p.His4500Gln) c.13338C>G (p.His4446Gln) c.13431C>G (p.His4477Gln) c.13335C>G (p.His4445Gln) c.13455C>G (p.His4485Gln) c.13383C>G (p.His4461Gln) c.13350C>G (p.His4450Gln) c.13266C>G (p.His4422Gln) c.12588C>G (p.His4196Gln) c.11049C>G (p.His3683Gln) c.13470C>G (p.His4490Gln) c.13452C>G (p.His4484Gln) c.13428C>G (p.His4476Gln) c.13356C>G (p.His4452Gln) c.13320C>G (p.His4440Gln) c.10173C>G (p.His3391Gln) c.9777C>G (p.His3259Gln) | dbSNP |
7 | g.152148640G>T | CA370091682 | KMT2C | c.1475C>A n.2419C>A c.13458C>A (p.His4486Gln) n.2587C>A n.8479C>A c.3860C>A c.10797C>A (p.His3599Gln) n.4917C>A c.3932C>A n.2053C>A n.2003C>A c.1704C>A (p.His568Gln) c.8184C>A (p.His2728Gln) n.45C>A c.13287C>A (p.His4429Gln) c.9074C>A c.3929C>A c.3863C>A n.7998C>A c.8187C>A (p.His2729Gln) c.12852C>A (p.His4284Gln) c.3864C>A n.2302C>A c.5968C>A c.3138C>A (p.His1046Gln) n.11169C>A c.*10807C>A (n.*10807C>A) c.13503C>A (p.His4501Gln) c.13500C>A (p.His4500Gln) c.13338C>A (p.His4446Gln) c.13431C>A (p.His4477Gln) c.13335C>A (p.His4445Gln) c.13455C>A (p.His4485Gln) c.13383C>A (p.His4461Gln) c.13350C>A (p.His4450Gln) c.13266C>A (p.His4422Gln) c.12588C>A (p.His4196Gln) c.11049C>A (p.His3683Gln) c.13470C>A (p.His4490Gln) c.13452C>A (p.His4484Gln) c.13428C>A (p.His4476Gln) c.13356C>A (p.His4452Gln) c.13320C>A (p.His4440Gln) c.10173C>A (p.His3391Gln) c.9777C>A (p.His3259Gln) | |
7 | g.152148641T>A | CA370091687 | KMT2C | c.1474A>T n.2418A>T c.13457A>T (p.His4486Leu) n.2586A>T n.8478A>T c.3859A>T c.10796A>T (p.His3599Leu) n.4916A>T c.3931A>T n.2052A>T n.2002A>T c.1703A>T (p.His568Leu) c.8183A>T (p.His2728Leu) n.44A>T c.13286A>T (p.His4429Leu) c.9073A>T c.3928A>T c.3862A>T n.7997A>T c.8186A>T (p.His2729Leu) c.12851A>T (p.His4284Leu) c.3863A>T n.2301A>T c.5967A>T c.3137A>T (p.His1046Leu) n.11168A>T c.*10806A>T (n.*10806A>T) c.13502A>T (p.His4501Leu) c.13499A>T (p.His4500Leu) c.13337A>T (p.His4446Leu) c.13430A>T (p.His4477Leu) c.13334A>T (p.His4445Leu) c.13454A>T (p.His4485Leu) c.13382A>T (p.His4461Leu) c.13349A>T (p.His4450Leu) c.13265A>T (p.His4422Leu) c.12587A>T (p.His4196Leu) c.11048A>T (p.His3683Leu) c.13469A>T (p.His4490Leu) c.13451A>T (p.His4484Leu) c.13427A>T (p.His4476Leu) c.13355A>T (p.His4452Leu) c.13319A>T (p.His4440Leu) c.10172A>T (p.His3391Leu) c.9776A>T (p.His3259Leu) | |
7 | g.152148641T>C | CA370091685 | KMT2C | c.1474A>G n.2418A>G c.13457A>G (p.His4486Arg) n.2586A>G n.8478A>G c.3859A>G c.10796A>G (p.His3599Arg) n.4916A>G c.3931A>G n.2052A>G n.2002A>G c.1703A>G (p.His568Arg) c.8183A>G (p.His2728Arg) n.44A>G c.13286A>G (p.His4429Arg) c.9073A>G c.3928A>G c.3862A>G n.7997A>G c.8186A>G (p.His2729Arg) c.12851A>G (p.His4284Arg) c.3863A>G n.2301A>G c.5967A>G c.3137A>G (p.His1046Arg) n.11168A>G c.*10806A>G (n.*10806A>G) c.13502A>G (p.His4501Arg) c.13499A>G (p.His4500Arg) c.13337A>G (p.His4446Arg) c.13430A>G (p.His4477Arg) c.13334A>G (p.His4445Arg) c.13454A>G (p.His4485Arg) c.13382A>G (p.His4461Arg) c.13349A>G (p.His4450Arg) c.13265A>G (p.His4422Arg) c.12587A>G (p.His4196Arg) c.11048A>G (p.His3683Arg) c.13469A>G (p.His4490Arg) c.13451A>G (p.His4484Arg) c.13427A>G (p.His4476Arg) c.13355A>G (p.His4452Arg) c.13319A>G (p.His4440Arg) c.10172A>G (p.His3391Arg) c.9776A>G (p.His3259Arg) | |
7 | g.152148641T>G | CA370091684 | KMT2C | c.1474A>C n.2418A>C c.13457A>C (p.His4486Pro) n.2586A>C n.8478A>C c.3859A>C c.10796A>C (p.His3599Pro) n.4916A>C c.3931A>C n.2052A>C n.2002A>C c.1703A>C (p.His568Pro) c.8183A>C (p.His2728Pro) n.44A>C c.13286A>C (p.His4429Pro) c.9073A>C c.3928A>C c.3862A>C n.7997A>C c.8186A>C (p.His2729Pro) c.12851A>C (p.His4284Pro) c.3863A>C n.2301A>C c.5967A>C c.3137A>C (p.His1046Pro) n.11168A>C c.*10806A>C (n.*10806A>C) c.13502A>C (p.His4501Pro) c.13499A>C (p.His4500Pro) c.13337A>C (p.His4446Pro) c.13430A>C (p.His4477Pro) c.13334A>C (p.His4445Pro) c.13454A>C (p.His4485Pro) c.13382A>C (p.His4461Pro) c.13349A>C (p.His4450Pro) c.13265A>C (p.His4422Pro) c.12587A>C (p.His4196Pro) c.11048A>C (p.His3683Pro) c.13469A>C (p.His4490Pro) c.13451A>C (p.His4484Pro) c.13427A>C (p.His4476Pro) c.13355A>C (p.His4452Pro) c.13319A>C (p.His4440Pro) c.10172A>C (p.His3391Pro) c.9776A>C (p.His3259Pro) | |
7 | g.152148642G>A | CA370091689 | KMT2C | c.1473C>T n.2417C>T c.13456C>T (p.His4486Tyr) n.2585C>T n.8477C>T c.3858C>T c.10795C>T (p.His3599Tyr) n.4915C>T c.3930C>T n.2051C>T n.2001C>T c.1702C>T (p.His568Tyr) c.8182C>T (p.His2728Tyr) n.43C>T c.13285C>T (p.His4429Tyr) c.9072C>T c.3927C>T c.3861C>T n.7996C>T c.8185C>T (p.His2729Tyr) c.12850C>T (p.His4284Tyr) c.3862C>T n.2300C>T c.5966C>T c.3136C>T (p.His1046Tyr) n.11167C>T c.*10805C>T (n.*10805C>T) c.13501C>T (p.His4501Tyr) c.13498C>T (p.His4500Tyr) c.13336C>T (p.His4446Tyr) c.13429C>T (p.His4477Tyr) c.13333C>T (p.His4445Tyr) c.13453C>T (p.His4485Tyr) c.13381C>T (p.His4461Tyr) c.13348C>T (p.His4450Tyr) c.13264C>T (p.His4422Tyr) c.12586C>T (p.His4196Tyr) c.11047C>T (p.His3683Tyr) c.13468C>T (p.His4490Tyr) c.13450C>T (p.His4484Tyr) c.13426C>T (p.His4476Tyr) c.13354C>T (p.His4452Tyr) c.13318C>T (p.His4440Tyr) c.10171C>T (p.His3391Tyr) c.9775C>T (p.His3259Tyr) | |
7 | g.152148642G>C | CA370091691 | KMT2C | c.1473C>G n.2417C>G c.13456C>G (p.His4486Asp) n.2585C>G n.8477C>G c.3858C>G c.10795C>G (p.His3599Asp) n.4915C>G c.3930C>G n.2051C>G n.2001C>G c.1702C>G (p.His568Asp) c.8182C>G (p.His2728Asp) n.43C>G c.13285C>G (p.His4429Asp) c.9072C>G c.3927C>G c.3861C>G n.7996C>G c.8185C>G (p.His2729Asp) c.12850C>G (p.His4284Asp) c.3862C>G n.2300C>G c.5966C>G c.3136C>G (p.His1046Asp) n.11167C>G c.*10805C>G (n.*10805C>G) c.13501C>G (p.His4501Asp) c.13498C>G (p.His4500Asp) c.13336C>G (p.His4446Asp) c.13429C>G (p.His4477Asp) c.13333C>G (p.His4445Asp) c.13453C>G (p.His4485Asp) c.13381C>G (p.His4461Asp) c.13348C>G (p.His4450Asp) c.13264C>G (p.His4422Asp) c.12586C>G (p.His4196Asp) c.11047C>G (p.His3683Asp) c.13468C>G (p.His4490Asp) c.13450C>G (p.His4484Asp) c.13426C>G (p.His4476Asp) c.13354C>G (p.His4452Asp) c.13318C>G (p.His4440Asp) c.10171C>G (p.His3391Asp) c.9775C>G (p.His3259Asp) | |
7 | g.152148642G>T | CA370091693 | KMT2C | c.1473C>A n.2417C>A c.13456C>A (p.His4486Asn) n.2585C>A n.8477C>A c.3858C>A c.10795C>A (p.His3599Asn) n.4915C>A c.3930C>A n.2051C>A n.2001C>A c.1702C>A (p.His568Asn) c.8182C>A (p.His2728Asn) n.43C>A c.13285C>A (p.His4429Asn) c.9072C>A c.3927C>A c.3861C>A n.7996C>A c.8185C>A (p.His2729Asn) c.12850C>A (p.His4284Asn) c.3862C>A n.2300C>A c.5966C>A c.3136C>A (p.His1046Asn) n.11167C>A c.*10805C>A (n.*10805C>A) c.13501C>A (p.His4501Asn) c.13498C>A (p.His4500Asn) c.13336C>A (p.His4446Asn) c.13429C>A (p.His4477Asn) c.13333C>A (p.His4445Asn) c.13453C>A (p.His4485Asn) c.13381C>A (p.His4461Asn) c.13348C>A (p.His4450Asn) c.13264C>A (p.His4422Asn) c.12586C>A (p.His4196Asn) c.11047C>A (p.His3683Asn) c.13468C>A (p.His4490Asn) c.13450C>A (p.His4484Asn) c.13426C>A (p.His4476Asn) c.13354C>A (p.His4452Asn) c.13318C>A (p.His4440Asn) c.10171C>A (p.His3391Asn) c.9775C>A (p.His3259Asn) | |
7 | g.152148643G>A | CA458884872 | KMT2C | c.1472C>T n.2416C>T c.13455C>T (p.Val4485=) n.2584C>T n.8476C>T c.3857C>T c.10794C>T (p.Val3598=) n.4914C>T c.3929C>T n.2050C>T n.2000C>T c.1701C>T (p.Val567=) c.8181C>T (p.Val2727=) n.42C>T c.13284C>T (p.Val4428=) c.9071C>T c.3926C>T c.3860C>T n.7995C>T c.8184C>T (p.Val2728=) c.12849C>T (p.Val4283=) c.3861C>T n.2299C>T c.5965C>T c.3135C>T (p.Val1045=) n.11166C>T c.*10804C>T (n.*10804C>T) c.13500C>T (p.Val4500=) c.13497C>T (p.Val4499=) c.13335C>T (p.Val4445=) c.13428C>T (p.Val4476=) c.13332C>T (p.Val4444=) c.13452C>T (p.Val4484=) c.13380C>T (p.Val4460=) c.13347C>T (p.Val4449=) c.13263C>T (p.Val4421=) c.12585C>T (p.Val4195=) c.11046C>T (p.Val3682=) c.13467C>T (p.Val4489=) c.13449C>T (p.Val4483=) c.13425C>T (p.Val4475=) c.13353C>T (p.Val4451=) c.13317C>T (p.Val4439=) c.10170C>T (p.Val3390=) c.9774C>T (p.Val3258=) | |
7 | g.152148643G>C | CA458884871 | KMT2C | c.1472C>G n.2416C>G c.13455C>G (p.Val4485=) n.2584C>G n.8476C>G c.3857C>G c.10794C>G (p.Val3598=) n.4914C>G c.3929C>G n.2050C>G n.2000C>G c.1701C>G (p.Val567=) c.8181C>G (p.Val2727=) n.42C>G c.13284C>G (p.Val4428=) c.9071C>G c.3926C>G c.3860C>G n.7995C>G c.8184C>G (p.Val2728=) c.12849C>G (p.Val4283=) c.3861C>G n.2299C>G c.5965C>G c.3135C>G (p.Val1045=) n.11166C>G c.*10804C>G (n.*10804C>G) c.13500C>G (p.Val4500=) c.13497C>G (p.Val4499=) c.13335C>G (p.Val4445=) c.13428C>G (p.Val4476=) c.13332C>G (p.Val4444=) c.13452C>G (p.Val4484=) c.13380C>G (p.Val4460=) c.13347C>G (p.Val4449=) c.13263C>G (p.Val4421=) c.12585C>G (p.Val4195=) c.11046C>G (p.Val3682=) c.13467C>G (p.Val4489=) c.13449C>G (p.Val4483=) c.13425C>G (p.Val4475=) c.13353C>G (p.Val4451=) c.13317C>G (p.Val4439=) c.10170C>G (p.Val3390=) c.9774C>G (p.Val3258=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.152148643G= | CA1752986086 | KMT2C | c.1472C= n.2416C= c.13455C= (p.Val4485=) n.2584C= n.8476C= c.3857C= c.10794C= (p.Val3598=) n.4914C= c.3929C= n.2050C= n.2000C= c.1701C= (p.Val567=) c.8181C= (p.Val2727=) n.42C= c.13284C= (p.Val4428=) c.9071C= c.3926C= c.3860C= n.7995C= c.8184C= (p.Val2728=) c.12849C= (p.Val4283=) c.3861C= n.2299C= c.5965C= c.3135C= (p.Val1045=) n.11166C= c.*10804C= (n.*10804C=) c.13500C= (p.Val4500=) c.13497C= (p.Val4499=) c.13335C= (p.Val4445=) c.13428C= (p.Val4476=) c.13332C= (p.Val4444=) c.13452C= (p.Val4484=) c.13380C= (p.Val4460=) c.13347C= (p.Val4449=) c.13263C= (p.Val4421=) c.12585C= (p.Val4195=) c.11046C= (p.Val3682=) c.13467C= (p.Val4489=) c.13449C= (p.Val4483=) c.13425C= (p.Val4475=) c.13353C= (p.Val4451=) c.13317C= (p.Val4439=) c.10170C= (p.Val3390=) c.9774C= (p.Val3258=) | |
7 | g.152148643G>T | CA458884870 | KMT2C | c.1472C>A n.2416C>A c.13455C>A (p.Val4485=) n.2584C>A n.8476C>A c.3857C>A c.10794C>A (p.Val3598=) n.4914C>A c.3929C>A n.2050C>A n.2000C>A c.1701C>A (p.Val567=) c.8181C>A (p.Val2727=) n.42C>A c.13284C>A (p.Val4428=) c.9071C>A c.3926C>A c.3860C>A n.7995C>A c.8184C>A (p.Val2728=) c.12849C>A (p.Val4283=) c.3861C>A n.2299C>A c.5965C>A c.3135C>A (p.Val1045=) n.11166C>A c.*10804C>A (n.*10804C>A) c.13500C>A (p.Val4500=) c.13497C>A (p.Val4499=) c.13335C>A (p.Val4445=) c.13428C>A (p.Val4476=) c.13332C>A (p.Val4444=) c.13452C>A (p.Val4484=) c.13380C>A (p.Val4460=) c.13347C>A (p.Val4449=) c.13263C>A (p.Val4421=) c.12585C>A (p.Val4195=) c.11046C>A (p.Val3682=) c.13467C>A (p.Val4489=) c.13449C>A (p.Val4483=) c.13425C>A (p.Val4475=) c.13353C>A (p.Val4451=) c.13317C>A (p.Val4439=) c.10170C>A (p.Val3390=) c.9774C>A (p.Val3258=) | gnomAD v4 |
7 | g.152148644A>C | CA370091695 | KMT2C | c.1471T>G n.2415T>G c.13454T>G (p.Val4485Gly) n.2583T>G n.8475T>G c.3856T>G c.10793T>G (p.Val3598Gly) n.4913T>G c.3928T>G n.2049T>G n.1999T>G c.1700T>G (p.Val567Gly) c.8180T>G (p.Val2727Gly) n.41T>G c.13283T>G (p.Val4428Gly) c.9070T>G c.3925T>G c.3859T>G n.7994T>G c.8183T>G (p.Val2728Gly) c.12848T>G (p.Val4283Gly) c.3860T>G n.2298T>G c.5964T>G c.3134T>G (p.Val1045Gly) n.11165T>G c.*10803T>G (n.*10803T>G) c.13499T>G (p.Val4500Gly) c.13496T>G (p.Val4499Gly) c.13334T>G (p.Val4445Gly) c.13427T>G (p.Val4476Gly) c.13331T>G (p.Val4444Gly) c.13451T>G (p.Val4484Gly) c.13379T>G (p.Val4460Gly) c.13346T>G (p.Val4449Gly) c.13262T>G (p.Val4421Gly) c.12584T>G (p.Val4195Gly) c.11045T>G (p.Val3682Gly) c.13466T>G (p.Val4489Gly) c.13448T>G (p.Val4483Gly) c.13424T>G (p.Val4475Gly) c.13352T>G (p.Val4451Gly) c.13316T>G (p.Val4439Gly) c.10169T>G (p.Val3390Gly) c.9773T>G (p.Val3258Gly) | |
7 | g.152148644A>G | CA370091697 | KMT2C | c.1471T>C n.2415T>C c.13454T>C (p.Val4485Ala) n.2583T>C n.8475T>C c.3856T>C c.10793T>C (p.Val3598Ala) n.4913T>C c.3928T>C n.2049T>C n.1999T>C c.1700T>C (p.Val567Ala) c.8180T>C (p.Val2727Ala) n.41T>C c.13283T>C (p.Val4428Ala) c.9070T>C c.3925T>C c.3859T>C n.7994T>C c.8183T>C (p.Val2728Ala) c.12848T>C (p.Val4283Ala) c.3860T>C n.2298T>C c.5964T>C c.3134T>C (p.Val1045Ala) n.11165T>C c.*10803T>C (n.*10803T>C) c.13499T>C (p.Val4500Ala) c.13496T>C (p.Val4499Ala) c.13334T>C (p.Val4445Ala) c.13427T>C (p.Val4476Ala) c.13331T>C (p.Val4444Ala) c.13451T>C (p.Val4484Ala) c.13379T>C (p.Val4460Ala) c.13346T>C (p.Val4449Ala) c.13262T>C (p.Val4421Ala) c.12584T>C (p.Val4195Ala) c.11045T>C (p.Val3682Ala) c.13466T>C (p.Val4489Ala) c.13448T>C (p.Val4483Ala) c.13424T>C (p.Val4475Ala) c.13352T>C (p.Val4451Ala) c.13316T>C (p.Val4439Ala) c.10169T>C (p.Val3390Ala) c.9773T>C (p.Val3258Ala) | |
7 | g.152148644A>T | CA370091699 | KMT2C | c.1471T>A n.2415T>A c.13454T>A (p.Val4485Asp) n.2583T>A n.8475T>A c.3856T>A c.10793T>A (p.Val3598Asp) n.4913T>A c.3928T>A n.2049T>A n.1999T>A c.1700T>A (p.Val567Asp) c.8180T>A (p.Val2727Asp) n.41T>A c.13283T>A (p.Val4428Asp) c.9070T>A c.3925T>A c.3859T>A n.7994T>A c.8183T>A (p.Val2728Asp) c.12848T>A (p.Val4283Asp) c.3860T>A n.2298T>A c.5964T>A c.3134T>A (p.Val1045Asp) n.11165T>A c.*10803T>A (n.*10803T>A) c.13499T>A (p.Val4500Asp) c.13496T>A (p.Val4499Asp) c.13334T>A (p.Val4445Asp) c.13427T>A (p.Val4476Asp) c.13331T>A (p.Val4444Asp) c.13451T>A (p.Val4484Asp) c.13379T>A (p.Val4460Asp) c.13346T>A (p.Val4449Asp) c.13262T>A (p.Val4421Asp) c.12584T>A (p.Val4195Asp) c.11045T>A (p.Val3682Asp) c.13466T>A (p.Val4489Asp) c.13448T>A (p.Val4483Asp) c.13424T>A (p.Val4475Asp) c.13352T>A (p.Val4451Asp) c.13316T>A (p.Val4439Asp) c.10169T>A (p.Val3390Asp) c.9773T>A (p.Val3258Asp) | |
7 | g.152148645C>A | CA370091701 | KMT2C | c.1470G>T n.2414G>T c.13453G>T (p.Val4485Phe) n.2582G>T n.8474G>T c.3855G>T c.10792G>T (p.Val3598Phe) n.4912G>T c.3927G>T n.2048G>T n.1998G>T c.1699G>T (p.Val567Phe) c.8179G>T (p.Val2727Phe) n.40G>T c.13282G>T (p.Val4428Phe) c.9069G>T c.3924G>T c.3858G>T n.7993G>T c.8182G>T (p.Val2728Phe) c.12847G>T (p.Val4283Phe) c.3859G>T n.2297G>T c.5963G>T c.3133G>T (p.Val1045Phe) n.11164G>T c.*10802G>T (n.*10802G>T) c.13498G>T (p.Val4500Phe) c.13495G>T (p.Val4499Phe) c.13333G>T (p.Val4445Phe) c.13426G>T (p.Val4476Phe) c.13330G>T (p.Val4444Phe) c.13450G>T (p.Val4484Phe) c.13378G>T (p.Val4460Phe) c.13345G>T (p.Val4449Phe) c.13261G>T (p.Val4421Phe) c.12583G>T (p.Val4195Phe) c.11044G>T (p.Val3682Phe) c.13465G>T (p.Val4489Phe) c.13447G>T (p.Val4483Phe) c.13423G>T (p.Val4475Phe) c.13351G>T (p.Val4451Phe) c.13315G>T (p.Val4439Phe) c.10168G>T (p.Val3390Phe) c.9772G>T (p.Val3258Phe) | |
7 | g.152148645C>G | CA370091703 | KMT2C | c.1470G>C n.2414G>C c.13453G>C (p.Val4485Leu) n.2582G>C n.8474G>C c.3855G>C c.10792G>C (p.Val3598Leu) n.4912G>C c.3927G>C n.2048G>C n.1998G>C c.1699G>C (p.Val567Leu) c.8179G>C (p.Val2727Leu) n.40G>C c.13282G>C (p.Val4428Leu) c.9069G>C c.3924G>C c.3858G>C n.7993G>C c.8182G>C (p.Val2728Leu) c.12847G>C (p.Val4283Leu) c.3859G>C n.2297G>C c.5963G>C c.3133G>C (p.Val1045Leu) n.11164G>C c.*10802G>C (n.*10802G>C) c.13498G>C (p.Val4500Leu) c.13495G>C (p.Val4499Leu) c.13333G>C (p.Val4445Leu) c.13426G>C (p.Val4476Leu) c.13330G>C (p.Val4444Leu) c.13450G>C (p.Val4484Leu) c.13378G>C (p.Val4460Leu) c.13345G>C (p.Val4449Leu) c.13261G>C (p.Val4421Leu) c.12583G>C (p.Val4195Leu) c.11044G>C (p.Val3682Leu) c.13465G>C (p.Val4489Leu) c.13447G>C (p.Val4483Leu) c.13423G>C (p.Val4475Leu) c.13351G>C (p.Val4451Leu) c.13315G>C (p.Val4439Leu) c.10168G>C (p.Val3390Leu) c.9772G>C (p.Val3258Leu) | dbSNP |
7 | g.152148645C>T | CA370091704 | KMT2C | c.1470G>A n.2414G>A c.13453G>A (p.Val4485Ile) n.2582G>A n.8474G>A c.3855G>A c.10792G>A (p.Val3598Ile) n.4912G>A c.3927G>A n.2048G>A n.1998G>A c.1699G>A (p.Val567Ile) c.8179G>A (p.Val2727Ile) n.40G>A c.13282G>A (p.Val4428Ile) c.9069G>A c.3924G>A c.3858G>A n.7993G>A c.8182G>A (p.Val2728Ile) c.12847G>A (p.Val4283Ile) c.3859G>A n.2297G>A c.5963G>A c.3133G>A (p.Val1045Ile) n.11164G>A c.*10802G>A (n.*10802G>A) c.13498G>A (p.Val4500Ile) c.13495G>A (p.Val4499Ile) c.13333G>A (p.Val4445Ile) c.13426G>A (p.Val4476Ile) c.13330G>A (p.Val4444Ile) c.13450G>A (p.Val4484Ile) c.13378G>A (p.Val4460Ile) c.13345G>A (p.Val4449Ile) c.13261G>A (p.Val4421Ile) c.12583G>A (p.Val4195Ile) c.11044G>A (p.Val3682Ile) c.13465G>A (p.Val4489Ile) c.13447G>A (p.Val4483Ile) c.13423G>A (p.Val4475Ile) c.13351G>A (p.Val4451Ile) c.13315G>A (p.Val4439Ile) c.10168G>A (p.Val3390Ile) c.9772G>A (p.Val3258Ile) | dbSNP |
7 | g.152148646C>A | CA370091706 | KMT2C | c.1469G>T n.2413G>T c.13452G>T (p.Trp4484Cys) n.2581G>T n.8473G>T c.3854G>T c.10791G>T (p.Trp3597Cys) n.4911G>T c.3926G>T n.2047G>T n.1997G>T c.1698G>T (p.Trp566Cys) c.8178G>T (p.Trp2726Cys) n.39G>T c.13281G>T (p.Trp4427Cys) c.9068G>T c.3923G>T c.3857G>T n.7992G>T c.8181G>T (p.Trp2727Cys) c.12846G>T (p.Trp4282Cys) c.3858G>T n.2296G>T c.5962G>T c.3132G>T (p.Trp1044Cys) n.11163G>T c.*10801G>T (n.*10801G>T) c.13497G>T (p.Trp4499Cys) c.13494G>T (p.Trp4498Cys) c.13332G>T (p.Trp4444Cys) c.13425G>T (p.Trp4475Cys) c.13329G>T (p.Trp4443Cys) c.13449G>T (p.Trp4483Cys) c.13377G>T (p.Trp4459Cys) c.13344G>T (p.Trp4448Cys) c.13260G>T (p.Trp4420Cys) c.12582G>T (p.Trp4194Cys) c.11043G>T (p.Trp3681Cys) c.13464G>T (p.Trp4488Cys) c.13446G>T (p.Trp4482Cys) c.13422G>T (p.Trp4474Cys) c.13350G>T (p.Trp4450Cys) c.13314G>T (p.Trp4438Cys) c.10167G>T (p.Trp3389Cys) c.9771G>T (p.Trp3257Cys) | |
7 | g.152148646C>G | CA370091708 | KMT2C | c.1469G>C n.2413G>C c.13452G>C (p.Trp4484Cys) n.2581G>C n.8473G>C c.3854G>C c.10791G>C (p.Trp3597Cys) n.4911G>C c.3926G>C n.2047G>C n.1997G>C c.1698G>C (p.Trp566Cys) c.8178G>C (p.Trp2726Cys) n.39G>C c.13281G>C (p.Trp4427Cys) c.9068G>C c.3923G>C c.3857G>C n.7992G>C c.8181G>C (p.Trp2727Cys) c.12846G>C (p.Trp4282Cys) c.3858G>C n.2296G>C c.5962G>C c.3132G>C (p.Trp1044Cys) n.11163G>C c.*10801G>C (n.*10801G>C) c.13497G>C (p.Trp4499Cys) c.13494G>C (p.Trp4498Cys) c.13332G>C (p.Trp4444Cys) c.13425G>C (p.Trp4475Cys) c.13329G>C (p.Trp4443Cys) c.13449G>C (p.Trp4483Cys) c.13377G>C (p.Trp4459Cys) c.13344G>C (p.Trp4448Cys) c.13260G>C (p.Trp4420Cys) c.12582G>C (p.Trp4194Cys) c.11043G>C (p.Trp3681Cys) c.13464G>C (p.Trp4488Cys) c.13446G>C (p.Trp4482Cys) c.13422G>C (p.Trp4474Cys) c.13350G>C (p.Trp4450Cys) c.13314G>C (p.Trp4438Cys) c.10167G>C (p.Trp3389Cys) c.9771G>C (p.Trp3257Cys) | |
7 | g.152148646C>T | CA370091710 | KMT2C | c.1469G>A n.2413G>A c.13452G>A (p.Trp4484Ter) n.2581G>A n.8473G>A c.3854G>A c.10791G>A (p.Trp3597Ter) n.4911G>A c.3926G>A n.2047G>A n.1997G>A c.1698G>A (p.Trp566Ter) c.8178G>A (p.Trp2726Ter) n.39G>A c.13281G>A (p.Trp4427Ter) c.9068G>A c.3923G>A c.3857G>A n.7992G>A c.8181G>A (p.Trp2727Ter) c.12846G>A (p.Trp4282Ter) c.3858G>A n.2296G>A c.5962G>A c.3132G>A (p.Trp1044Ter) n.11163G>A c.*10801G>A (n.*10801G>A) c.13497G>A (p.Trp4499Ter) c.13494G>A (p.Trp4498Ter) c.13332G>A (p.Trp4444Ter) c.13425G>A (p.Trp4475Ter) c.13329G>A (p.Trp4443Ter) c.13449G>A (p.Trp4483Ter) c.13377G>A (p.Trp4459Ter) c.13344G>A (p.Trp4448Ter) c.13260G>A (p.Trp4420Ter) c.12582G>A (p.Trp4194Ter) c.11043G>A (p.Trp3681Ter) c.13464G>A (p.Trp4488Ter) c.13446G>A (p.Trp4482Ter) c.13422G>A (p.Trp4474Ter) c.13350G>A (p.Trp4450Ter) c.13314G>A (p.Trp4438Ter) c.10167G>A (p.Trp3389Ter) c.9771G>A (p.Trp3257Ter) | |
7 | g.152148647C>A | CA370091714 | KMT2C | c.1468G>T n.2412G>T c.13451G>T (p.Trp4484Leu) n.2580G>T n.8472G>T c.3853G>T c.10790G>T (p.Trp3597Leu) n.4910G>T c.3925G>T n.2046G>T n.1996G>T c.1697G>T (p.Trp566Leu) c.8177G>T (p.Trp2726Leu) n.38G>T c.13280G>T (p.Trp4427Leu) c.9067G>T c.3922G>T c.3856G>T n.7991G>T c.8180G>T (p.Trp2727Leu) c.12845G>T (p.Trp4282Leu) c.3857G>T n.2295G>T c.5961G>T c.3131G>T (p.Trp1044Leu) n.11162G>T c.*10800G>T (n.*10800G>T) c.13496G>T (p.Trp4499Leu) c.13493G>T (p.Trp4498Leu) c.13331G>T (p.Trp4444Leu) c.13424G>T (p.Trp4475Leu) c.13328G>T (p.Trp4443Leu) c.13448G>T (p.Trp4483Leu) c.13376G>T (p.Trp4459Leu) c.13343G>T (p.Trp4448Leu) c.13259G>T (p.Trp4420Leu) c.12581G>T (p.Trp4194Leu) c.11042G>T (p.Trp3681Leu) c.13463G>T (p.Trp4488Leu) c.13445G>T (p.Trp4482Leu) c.13421G>T (p.Trp4474Leu) c.13349G>T (p.Trp4450Leu) c.13313G>T (p.Trp4438Leu) c.10166G>T (p.Trp3389Leu) c.9770G>T (p.Trp3257Leu) | |
7 | g.152148647C>G | CA370091713 | KMT2C | c.1468G>C n.2412G>C c.13451G>C (p.Trp4484Ser) n.2580G>C n.8472G>C c.3853G>C c.10790G>C (p.Trp3597Ser) n.4910G>C c.3925G>C n.2046G>C n.1996G>C c.1697G>C (p.Trp566Ser) c.8177G>C (p.Trp2726Ser) n.38G>C c.13280G>C (p.Trp4427Ser) c.9067G>C c.3922G>C c.3856G>C n.7991G>C c.8180G>C (p.Trp2727Ser) c.12845G>C (p.Trp4282Ser) c.3857G>C n.2295G>C c.5961G>C c.3131G>C (p.Trp1044Ser) n.11162G>C c.*10800G>C (n.*10800G>C) c.13496G>C (p.Trp4499Ser) c.13493G>C (p.Trp4498Ser) c.13331G>C (p.Trp4444Ser) c.13424G>C (p.Trp4475Ser) c.13328G>C (p.Trp4443Ser) c.13448G>C (p.Trp4483Ser) c.13376G>C (p.Trp4459Ser) c.13343G>C (p.Trp4448Ser) c.13259G>C (p.Trp4420Ser) c.12581G>C (p.Trp4194Ser) c.11042G>C (p.Trp3681Ser) c.13463G>C (p.Trp4488Ser) c.13445G>C (p.Trp4482Ser) c.13421G>C (p.Trp4474Ser) c.13349G>C (p.Trp4450Ser) c.13313G>C (p.Trp4438Ser) c.10166G>C (p.Trp3389Ser) c.9770G>C (p.Trp3257Ser) | |
7 | g.152148647C>T | CA370091712 | KMT2C | c.1468G>A n.2412G>A c.13451G>A (p.Trp4484Ter) n.2580G>A n.8472G>A c.3853G>A c.10790G>A (p.Trp3597Ter) n.4910G>A c.3925G>A n.2046G>A n.1996G>A c.1697G>A (p.Trp566Ter) c.8177G>A (p.Trp2726Ter) n.38G>A c.13280G>A (p.Trp4427Ter) c.9067G>A c.3922G>A c.3856G>A n.7991G>A c.8180G>A (p.Trp2727Ter) c.12845G>A (p.Trp4282Ter) c.3857G>A n.2295G>A c.5961G>A c.3131G>A (p.Trp1044Ter) n.11162G>A c.*10800G>A (n.*10800G>A) c.13496G>A (p.Trp4499Ter) c.13493G>A (p.Trp4498Ter) c.13331G>A (p.Trp4444Ter) c.13424G>A (p.Trp4475Ter) c.13328G>A (p.Trp4443Ter) c.13448G>A (p.Trp4483Ter) c.13376G>A (p.Trp4459Ter) c.13343G>A (p.Trp4448Ter) c.13259G>A (p.Trp4420Ter) c.12581G>A (p.Trp4194Ter) c.11042G>A (p.Trp3681Ter) c.13463G>A (p.Trp4488Ter) c.13445G>A (p.Trp4482Ter) c.13421G>A (p.Trp4474Ter) c.13349G>A (p.Trp4450Ter) c.13313G>A (p.Trp4438Ter) c.10166G>A (p.Trp3389Ter) c.9770G>A (p.Trp3257Ter) | |
7 | g.152148648A>C | CA370091715 | KMT2C | c.1467T>G n.2411T>G c.13450T>G (p.Trp4484Gly) n.2579T>G n.8471T>G c.3852T>G c.10789T>G (p.Trp3597Gly) n.4909T>G c.3924T>G n.2045T>G n.1995T>G c.1696T>G (p.Trp566Gly) c.8176T>G (p.Trp2726Gly) n.37T>G c.13279T>G (p.Trp4427Gly) c.9066T>G c.3921T>G c.3855T>G n.7990T>G c.8179T>G (p.Trp2727Gly) c.12844T>G (p.Trp4282Gly) c.3856T>G n.2294T>G c.5960T>G c.3130T>G (p.Trp1044Gly) n.11161T>G c.*10799T>G (n.*10799T>G) c.13495T>G (p.Trp4499Gly) c.13492T>G (p.Trp4498Gly) c.13330T>G (p.Trp4444Gly) c.13423T>G (p.Trp4475Gly) c.13327T>G (p.Trp4443Gly) c.13447T>G (p.Trp4483Gly) c.13375T>G (p.Trp4459Gly) c.13342T>G (p.Trp4448Gly) c.13258T>G (p.Trp4420Gly) c.12580T>G (p.Trp4194Gly) c.11041T>G (p.Trp3681Gly) c.13462T>G (p.Trp4488Gly) c.13444T>G (p.Trp4482Gly) c.13420T>G (p.Trp4474Gly) c.13348T>G (p.Trp4450Gly) c.13312T>G (p.Trp4438Gly) c.10165T>G (p.Trp3389Gly) c.9769T>G (p.Trp3257Gly) | |
7 | g.152148648A>G | CA370091716 | KMT2C | c.1467T>C n.2411T>C c.13450T>C (p.Trp4484Arg) n.2579T>C n.8471T>C c.3852T>C c.10789T>C (p.Trp3597Arg) n.4909T>C c.3924T>C n.2045T>C n.1995T>C c.1696T>C (p.Trp566Arg) c.8176T>C (p.Trp2726Arg) n.37T>C c.13279T>C (p.Trp4427Arg) c.9066T>C c.3921T>C c.3855T>C n.7990T>C c.8179T>C (p.Trp2727Arg) c.12844T>C (p.Trp4282Arg) c.3856T>C n.2294T>C c.5960T>C c.3130T>C (p.Trp1044Arg) n.11161T>C c.*10799T>C (n.*10799T>C) c.13495T>C (p.Trp4499Arg) c.13492T>C (p.Trp4498Arg) c.13330T>C (p.Trp4444Arg) c.13423T>C (p.Trp4475Arg) c.13327T>C (p.Trp4443Arg) c.13447T>C (p.Trp4483Arg) c.13375T>C (p.Trp4459Arg) c.13342T>C (p.Trp4448Arg) c.13258T>C (p.Trp4420Arg) c.12580T>C (p.Trp4194Arg) c.11041T>C (p.Trp3681Arg) c.13462T>C (p.Trp4488Arg) c.13444T>C (p.Trp4482Arg) c.13420T>C (p.Trp4474Arg) c.13348T>C (p.Trp4450Arg) c.13312T>C (p.Trp4438Arg) c.10165T>C (p.Trp3389Arg) c.9769T>C (p.Trp3257Arg) | |
7 | g.152148648A>T | CA370091717 | KMT2C | c.1467T>A n.2411T>A c.13450T>A (p.Trp4484Arg) n.2579T>A n.8471T>A c.3852T>A c.10789T>A (p.Trp3597Arg) n.4909T>A c.3924T>A n.2045T>A n.1995T>A c.1696T>A (p.Trp566Arg) c.8176T>A (p.Trp2726Arg) n.37T>A c.13279T>A (p.Trp4427Arg) c.9066T>A c.3921T>A c.3855T>A n.7990T>A c.8179T>A (p.Trp2727Arg) c.12844T>A (p.Trp4282Arg) c.3856T>A n.2294T>A c.5960T>A c.3130T>A (p.Trp1044Arg) n.11161T>A c.*10799T>A (n.*10799T>A) c.13495T>A (p.Trp4499Arg) c.13492T>A (p.Trp4498Arg) c.13330T>A (p.Trp4444Arg) c.13423T>A (p.Trp4475Arg) c.13327T>A (p.Trp4443Arg) c.13447T>A (p.Trp4483Arg) c.13375T>A (p.Trp4459Arg) c.13342T>A (p.Trp4448Arg) c.13258T>A (p.Trp4420Arg) c.12580T>A (p.Trp4194Arg) c.11041T>A (p.Trp3681Arg) c.13462T>A (p.Trp4488Arg) c.13444T>A (p.Trp4482Arg) c.13420T>A (p.Trp4474Arg) c.13348T>A (p.Trp4450Arg) c.13312T>A (p.Trp4438Arg) c.10165T>A (p.Trp3389Arg) c.9769T>A (p.Trp3257Arg) | |
7 | g.152148649C>A | CA458884879 | KMT2C | c.1466G>T n.2410G>T c.13449G>T (p.Leu4483=) n.2578G>T n.8470G>T c.3851G>T c.10788G>T (p.Leu3596=) n.4908G>T c.3923G>T n.2044G>T n.1994G>T c.1695G>T (p.Leu565=) c.8175G>T (p.Leu2725=) n.36G>T c.13278G>T (p.Leu4426=) c.9065G>T c.3920G>T c.3854G>T n.7989G>T c.8178G>T (p.Leu2726=) c.12843G>T (p.Leu4281=) c.3855G>T n.2293G>T c.5959G>T c.3129G>T (p.Leu1043=) n.11160G>T c.*10798G>T (n.*10798G>T) c.13494G>T (p.Leu4498=) c.13491G>T (p.Leu4497=) c.13329G>T (p.Leu4443=) c.13422G>T (p.Leu4474=) c.13326G>T (p.Leu4442=) c.13446G>T (p.Leu4482=) c.13374G>T (p.Leu4458=) c.13341G>T (p.Leu4447=) c.13257G>T (p.Leu4419=) c.12579G>T (p.Leu4193=) c.11040G>T (p.Leu3680=) c.13461G>T (p.Leu4487=) c.13443G>T (p.Leu4481=) c.13419G>T (p.Leu4473=) c.13347G>T (p.Leu4449=) c.13311G>T (p.Leu4437=) c.10164G>T (p.Leu3388=) c.9768G>T (p.Leu3256=) | gnomAD v4 |
7 | g.152148649C>G | CA458884880 | KMT2C | c.1466G>C n.2410G>C c.13449G>C (p.Leu4483=) n.2578G>C n.8470G>C c.3851G>C c.10788G>C (p.Leu3596=) n.4908G>C c.3923G>C n.2044G>C n.1994G>C c.1695G>C (p.Leu565=) c.8175G>C (p.Leu2725=) n.36G>C c.13278G>C (p.Leu4426=) c.9065G>C c.3920G>C c.3854G>C n.7989G>C c.8178G>C (p.Leu2726=) c.12843G>C (p.Leu4281=) c.3855G>C n.2293G>C c.5959G>C c.3129G>C (p.Leu1043=) n.11160G>C c.*10798G>C (n.*10798G>C) c.13494G>C (p.Leu4498=) c.13491G>C (p.Leu4497=) c.13329G>C (p.Leu4443=) c.13422G>C (p.Leu4474=) c.13326G>C (p.Leu4442=) c.13446G>C (p.Leu4482=) c.13374G>C (p.Leu4458=) c.13341G>C (p.Leu4447=) c.13257G>C (p.Leu4419=) c.12579G>C (p.Leu4193=) c.11040G>C (p.Leu3680=) c.13461G>C (p.Leu4487=) c.13443G>C (p.Leu4481=) c.13419G>C (p.Leu4473=) c.13347G>C (p.Leu4449=) c.13311G>C (p.Leu4437=) c.10164G>C (p.Leu3388=) c.9768G>C (p.Leu3256=) | |
7 | g.152148649C>T | CA458884881 | KMT2C | c.1466G>A n.2410G>A c.13449G>A (p.Leu4483=) n.2578G>A n.8470G>A c.3851G>A c.10788G>A (p.Leu3596=) n.4908G>A c.3923G>A n.2044G>A n.1994G>A c.1695G>A (p.Leu565=) c.8175G>A (p.Leu2725=) n.36G>A c.13278G>A (p.Leu4426=) c.9065G>A c.3920G>A c.3854G>A n.7989G>A c.8178G>A (p.Leu2726=) c.12843G>A (p.Leu4281=) c.3855G>A n.2293G>A c.5959G>A c.3129G>A (p.Leu1043=) n.11160G>A c.*10798G>A (n.*10798G>A) c.13494G>A (p.Leu4498=) c.13491G>A (p.Leu4497=) c.13329G>A (p.Leu4443=) c.13422G>A (p.Leu4474=) c.13326G>A (p.Leu4442=) c.13446G>A (p.Leu4482=) c.13374G>A (p.Leu4458=) c.13341G>A (p.Leu4447=) c.13257G>A (p.Leu4419=) c.12579G>A (p.Leu4193=) c.11040G>A (p.Leu3680=) c.13461G>A (p.Leu4487=) c.13443G>A (p.Leu4481=) c.13419G>A (p.Leu4473=) c.13347G>A (p.Leu4449=) c.13311G>A (p.Leu4437=) c.10164G>A (p.Leu3388=) c.9768G>A (p.Leu3256=) | gnomAD v4 |
7 | g.152148650A>C | CA370091718 | KMT2C | c.1465T>G n.2409T>G c.13448T>G (p.Leu4483Arg) n.2577T>G n.8469T>G c.3850T>G c.10787T>G (p.Leu3596Arg) n.4907T>G c.3922T>G n.2043T>G n.1993T>G c.1694T>G (p.Leu565Arg) c.8174T>G (p.Leu2725Arg) n.35T>G c.13277T>G (p.Leu4426Arg) c.9064T>G c.3919T>G c.3853T>G n.7988T>G c.8177T>G (p.Leu2726Arg) c.12842T>G (p.Leu4281Arg) c.3854T>G n.2292T>G c.5958T>G c.3128T>G (p.Leu1043Arg) n.11159T>G c.*10797T>G (n.*10797T>G) c.13493T>G (p.Leu4498Arg) c.13490T>G (p.Leu4497Arg) c.13328T>G (p.Leu4443Arg) c.13421T>G (p.Leu4474Arg) c.13325T>G (p.Leu4442Arg) c.13445T>G (p.Leu4482Arg) c.13373T>G (p.Leu4458Arg) c.13340T>G (p.Leu4447Arg) c.13256T>G (p.Leu4419Arg) c.12578T>G (p.Leu4193Arg) c.11039T>G (p.Leu3680Arg) c.13460T>G (p.Leu4487Arg) c.13442T>G (p.Leu4481Arg) c.13418T>G (p.Leu4473Arg) c.13346T>G (p.Leu4449Arg) c.13310T>G (p.Leu4437Arg) c.10163T>G (p.Leu3388Arg) c.9767T>G (p.Leu3256Arg) | |
7 | g.152148650A>G | CA370091720 | KMT2C | c.1465T>C n.2409T>C c.13448T>C (p.Leu4483Pro) n.2577T>C n.8469T>C c.3850T>C c.10787T>C (p.Leu3596Pro) n.4907T>C c.3922T>C n.2043T>C n.1993T>C c.1694T>C (p.Leu565Pro) c.8174T>C (p.Leu2725Pro) n.35T>C c.13277T>C (p.Leu4426Pro) c.9064T>C c.3919T>C c.3853T>C n.7988T>C c.8177T>C (p.Leu2726Pro) c.12842T>C (p.Leu4281Pro) c.3854T>C n.2292T>C c.5958T>C c.3128T>C (p.Leu1043Pro) n.11159T>C c.*10797T>C (n.*10797T>C) c.13493T>C (p.Leu4498Pro) c.13490T>C (p.Leu4497Pro) c.13328T>C (p.Leu4443Pro) c.13421T>C (p.Leu4474Pro) c.13325T>C (p.Leu4442Pro) c.13445T>C (p.Leu4482Pro) c.13373T>C (p.Leu4458Pro) c.13340T>C (p.Leu4447Pro) c.13256T>C (p.Leu4419Pro) c.12578T>C (p.Leu4193Pro) c.11039T>C (p.Leu3680Pro) c.13460T>C (p.Leu4487Pro) c.13442T>C (p.Leu4481Pro) c.13418T>C (p.Leu4473Pro) c.13346T>C (p.Leu4449Pro) c.13310T>C (p.Leu4437Pro) c.10163T>C (p.Leu3388Pro) c.9767T>C (p.Leu3256Pro) | |
7 | g.152148650A>T | CA370091722 | KMT2C | c.1465T>A n.2409T>A c.13448T>A (p.Leu4483Gln) n.2577T>A n.8469T>A c.3850T>A c.10787T>A (p.Leu3596Gln) n.4907T>A c.3922T>A n.2043T>A n.1993T>A c.1694T>A (p.Leu565Gln) c.8174T>A (p.Leu2725Gln) n.35T>A c.13277T>A (p.Leu4426Gln) c.9064T>A c.3919T>A c.3853T>A n.7988T>A c.8177T>A (p.Leu2726Gln) c.12842T>A (p.Leu4281Gln) c.3854T>A n.2292T>A c.5958T>A c.3128T>A (p.Leu1043Gln) n.11159T>A c.*10797T>A (n.*10797T>A) c.13493T>A (p.Leu4498Gln) c.13490T>A (p.Leu4497Gln) c.13328T>A (p.Leu4443Gln) c.13421T>A (p.Leu4474Gln) c.13325T>A (p.Leu4442Gln) c.13445T>A (p.Leu4482Gln) c.13373T>A (p.Leu4458Gln) c.13340T>A (p.Leu4447Gln) c.13256T>A (p.Leu4419Gln) c.12578T>A (p.Leu4193Gln) c.11039T>A (p.Leu3680Gln) c.13460T>A (p.Leu4487Gln) c.13442T>A (p.Leu4481Gln) c.13418T>A (p.Leu4473Gln) c.13346T>A (p.Leu4449Gln) c.13310T>A (p.Leu4437Gln) c.10163T>A (p.Leu3388Gln) c.9767T>A (p.Leu3256Gln) | |
7 | g.152148651G>A | CA458884883 | KMT2C | c.1464C>T n.2408C>T c.13447C>T (p.Leu4483=) n.2576C>T n.8468C>T c.3849C>T c.10786C>T (p.Leu3596=) n.4906C>T c.3921C>T n.2042C>T n.1992C>T c.1693C>T (p.Leu565=) c.8173C>T (p.Leu2725=) n.34C>T c.13276C>T (p.Leu4426=) c.9063C>T c.3918C>T c.3852C>T n.7987C>T c.8176C>T (p.Leu2726=) c.12841C>T (p.Leu4281=) c.3853C>T n.2291C>T c.5957C>T c.3127C>T (p.Leu1043=) n.11158C>T c.*10796C>T (n.*10796C>T) c.13492C>T (p.Leu4498=) c.13489C>T (p.Leu4497=) c.13327C>T (p.Leu4443=) c.13420C>T (p.Leu4474=) c.13324C>T (p.Leu4442=) c.13444C>T (p.Leu4482=) c.13372C>T (p.Leu4458=) c.13339C>T (p.Leu4447=) c.13255C>T (p.Leu4419=) c.12577C>T (p.Leu4193=) c.11038C>T (p.Leu3680=) c.13459C>T (p.Leu4487=) c.13441C>T (p.Leu4481=) c.13417C>T (p.Leu4473=) c.13345C>T (p.Leu4449=) c.13309C>T (p.Leu4437=) c.10162C>T (p.Leu3388=) c.9766C>T (p.Leu3256=) | gnomAD v4 |
7 | g.152148651G>C | CA370091724 | KMT2C | c.1464C>G n.2408C>G c.13447C>G (p.Leu4483Val) n.2576C>G n.8468C>G c.3849C>G c.10786C>G (p.Leu3596Val) n.4906C>G c.3921C>G n.2042C>G n.1992C>G c.1693C>G (p.Leu565Val) c.8173C>G (p.Leu2725Val) n.34C>G c.13276C>G (p.Leu4426Val) c.9063C>G c.3918C>G c.3852C>G n.7987C>G c.8176C>G (p.Leu2726Val) c.12841C>G (p.Leu4281Val) c.3853C>G n.2291C>G c.5957C>G c.3127C>G (p.Leu1043Val) n.11158C>G c.*10796C>G (n.*10796C>G) c.13492C>G (p.Leu4498Val) c.13489C>G (p.Leu4497Val) c.13327C>G (p.Leu4443Val) c.13420C>G (p.Leu4474Val) c.13324C>G (p.Leu4442Val) c.13444C>G (p.Leu4482Val) c.13372C>G (p.Leu4458Val) c.13339C>G (p.Leu4447Val) c.13255C>G (p.Leu4419Val) c.12577C>G (p.Leu4193Val) c.11038C>G (p.Leu3680Val) c.13459C>G (p.Leu4487Val) c.13441C>G (p.Leu4481Val) c.13417C>G (p.Leu4473Val) c.13345C>G (p.Leu4449Val) c.13309C>G (p.Leu4437Val) c.10162C>G (p.Leu3388Val) c.9766C>G (p.Leu3256Val) | dbSNP |
7 | g.152148651G>T | CA370091726 | KMT2C | c.1464C>A n.2408C>A c.13447C>A (p.Leu4483Met) n.2576C>A n.8468C>A c.3849C>A c.10786C>A (p.Leu3596Met) n.4906C>A c.3921C>A n.2042C>A n.1992C>A c.1693C>A (p.Leu565Met) c.8173C>A (p.Leu2725Met) n.34C>A c.13276C>A (p.Leu4426Met) c.9063C>A c.3918C>A c.3852C>A n.7987C>A c.8176C>A (p.Leu2726Met) c.12841C>A (p.Leu4281Met) c.3853C>A n.2291C>A c.5957C>A c.3127C>A (p.Leu1043Met) n.11158C>A c.*10796C>A (n.*10796C>A) c.13492C>A (p.Leu4498Met) c.13489C>A (p.Leu4497Met) c.13327C>A (p.Leu4443Met) c.13420C>A (p.Leu4474Met) c.13324C>A (p.Leu4442Met) c.13444C>A (p.Leu4482Met) c.13372C>A (p.Leu4458Met) c.13339C>A (p.Leu4447Met) c.13255C>A (p.Leu4419Met) c.12577C>A (p.Leu4193Met) c.11038C>A (p.Leu3680Met) c.13459C>A (p.Leu4487Met) c.13441C>A (p.Leu4481Met) c.13417C>A (p.Leu4473Met) c.13345C>A (p.Leu4449Met) c.13309C>A (p.Leu4437Met) c.10162C>A (p.Leu3388Met) c.9766C>A (p.Leu3256Met) | |
7 | g.152148652A>C | CA370091728 | KMT2C | c.1463T>G n.2407T>G c.13446T>G (p.Asp4482Glu) n.2575T>G n.8467T>G c.3848T>G c.10785T>G (p.Asp3595Glu) n.4905T>G c.3920T>G n.2041T>G n.1991T>G c.1692T>G (p.Asp564Glu) c.8172T>G (p.Asp2724Glu) n.33T>G c.13275T>G (p.Asp4425Glu) c.9062T>G c.3917T>G c.3851T>G n.7986T>G c.8175T>G (p.Asp2725Glu) c.12840T>G (p.Asp4280Glu) c.3852T>G n.2290T>G c.5956T>G c.3126T>G (p.Asp1042Glu) n.11157T>G c.*10795T>G (n.*10795T>G) c.13491T>G (p.Asp4497Glu) c.13488T>G (p.Asp4496Glu) c.13326T>G (p.Asp4442Glu) c.13419T>G (p.Asp4473Glu) c.13323T>G (p.Asp4441Glu) c.13443T>G (p.Asp4481Glu) c.13371T>G (p.Asp4457Glu) c.13338T>G (p.Asp4446Glu) c.13254T>G (p.Asp4418Glu) c.12576T>G (p.Asp4192Glu) c.11037T>G (p.Asp3679Glu) c.13458T>G (p.Asp4486Glu) c.13440T>G (p.Asp4480Glu) c.13416T>G (p.Asp4472Glu) c.13344T>G (p.Asp4448Glu) c.13308T>G (p.Asp4436Glu) c.10161T>G (p.Asp3387Glu) c.9765T>G (p.Asp3255Glu) | |
7 | g.152148652A>G | CA458884885 | KMT2C | c.1463T>C n.2407T>C c.13446T>C (p.Asp4482=) n.2575T>C n.8467T>C c.3848T>C c.10785T>C (p.Asp3595=) n.4905T>C c.3920T>C n.2041T>C n.1991T>C c.1692T>C (p.Asp564=) c.8172T>C (p.Asp2724=) n.33T>C c.13275T>C (p.Asp4425=) c.9062T>C c.3917T>C c.3851T>C n.7986T>C c.8175T>C (p.Asp2725=) c.12840T>C (p.Asp4280=) c.3852T>C n.2290T>C c.5956T>C c.3126T>C (p.Asp1042=) n.11157T>C c.*10795T>C (n.*10795T>C) c.13491T>C (p.Asp4497=) c.13488T>C (p.Asp4496=) c.13326T>C (p.Asp4442=) c.13419T>C (p.Asp4473=) c.13323T>C (p.Asp4441=) c.13443T>C (p.Asp4481=) c.13371T>C (p.Asp4457=) c.13338T>C (p.Asp4446=) c.13254T>C (p.Asp4418=) c.12576T>C (p.Asp4192=) c.11037T>C (p.Asp3679=) c.13458T>C (p.Asp4486=) c.13440T>C (p.Asp4480=) c.13416T>C (p.Asp4472=) c.13344T>C (p.Asp4448=) c.13308T>C (p.Asp4436=) c.10161T>C (p.Asp3387=) c.9765T>C (p.Asp3255=) | |
7 | g.152148652A>T | CA370091729 | KMT2C | c.1463T>A n.2407T>A c.13446T>A (p.Asp4482Glu) n.2575T>A n.8467T>A c.3848T>A c.10785T>A (p.Asp3595Glu) n.4905T>A c.3920T>A n.2041T>A n.1991T>A c.1692T>A (p.Asp564Glu) c.8172T>A (p.Asp2724Glu) n.33T>A c.13275T>A (p.Asp4425Glu) c.9062T>A c.3917T>A c.3851T>A n.7986T>A c.8175T>A (p.Asp2725Glu) c.12840T>A (p.Asp4280Glu) c.3852T>A n.2290T>A c.5956T>A c.3126T>A (p.Asp1042Glu) n.11157T>A c.*10795T>A (n.*10795T>A) c.13491T>A (p.Asp4497Glu) c.13488T>A (p.Asp4496Glu) c.13326T>A (p.Asp4442Glu) c.13419T>A (p.Asp4473Glu) c.13323T>A (p.Asp4441Glu) c.13443T>A (p.Asp4481Glu) c.13371T>A (p.Asp4457Glu) c.13338T>A (p.Asp4446Glu) c.13254T>A (p.Asp4418Glu) c.12576T>A (p.Asp4192Glu) c.11037T>A (p.Asp3679Glu) c.13458T>A (p.Asp4486Glu) c.13440T>A (p.Asp4480Glu) c.13416T>A (p.Asp4472Glu) c.13344T>A (p.Asp4448Glu) c.13308T>A (p.Asp4436Glu) c.10161T>A (p.Asp3387Glu) c.9765T>A (p.Asp3255Glu) | |
7 | g.152148653T>A | CA370091730 | KMT2C | c.1462A>T n.2406A>T c.13445A>T (p.Asp4482Val) n.2574A>T n.8466A>T c.3847A>T c.10784A>T (p.Asp3595Val) n.4904A>T c.3919A>T n.2040A>T n.1990A>T c.1691A>T (p.Asp564Val) c.8171A>T (p.Asp2724Val) n.32A>T c.13274A>T (p.Asp4425Val) c.9061A>T c.3916A>T c.3850A>T n.7985A>T c.8174A>T (p.Asp2725Val) c.12839A>T (p.Asp4280Val) c.3851A>T n.2289A>T c.5955A>T c.3125A>T (p.Asp1042Val) n.11156A>T c.*10794A>T (n.*10794A>T) c.13490A>T (p.Asp4497Val) c.13487A>T (p.Asp4496Val) c.13325A>T (p.Asp4442Val) c.13418A>T (p.Asp4473Val) c.13322A>T (p.Asp4441Val) c.13442A>T (p.Asp4481Val) c.13370A>T (p.Asp4457Val) c.13337A>T (p.Asp4446Val) c.13253A>T (p.Asp4418Val) c.12575A>T (p.Asp4192Val) c.11036A>T (p.Asp3679Val) c.13457A>T (p.Asp4486Val) c.13439A>T (p.Asp4480Val) c.13415A>T (p.Asp4472Val) c.13343A>T (p.Asp4448Val) c.13307A>T (p.Asp4436Val) c.10160A>T (p.Asp3387Val) c.9764A>T (p.Asp3255Val) | dbSNP |
7 | g.152148653T>C | CA370091731 | KMT2C | c.1462A>G n.2406A>G c.13445A>G (p.Asp4482Gly) n.2574A>G n.8466A>G c.3847A>G c.10784A>G (p.Asp3595Gly) n.4904A>G c.3919A>G n.2040A>G n.1990A>G c.1691A>G (p.Asp564Gly) c.8171A>G (p.Asp2724Gly) n.32A>G c.13274A>G (p.Asp4425Gly) c.9061A>G c.3916A>G c.3850A>G n.7985A>G c.8174A>G (p.Asp2725Gly) c.12839A>G (p.Asp4280Gly) c.3851A>G n.2289A>G c.5955A>G c.3125A>G (p.Asp1042Gly) n.11156A>G c.*10794A>G (n.*10794A>G) c.13490A>G (p.Asp4497Gly) c.13487A>G (p.Asp4496Gly) c.13325A>G (p.Asp4442Gly) c.13418A>G (p.Asp4473Gly) c.13322A>G (p.Asp4441Gly) c.13442A>G (p.Asp4481Gly) c.13370A>G (p.Asp4457Gly) c.13337A>G (p.Asp4446Gly) c.13253A>G (p.Asp4418Gly) c.12575A>G (p.Asp4192Gly) c.11036A>G (p.Asp3679Gly) c.13457A>G (p.Asp4486Gly) c.13439A>G (p.Asp4480Gly) c.13415A>G (p.Asp4472Gly) c.13343A>G (p.Asp4448Gly) c.13307A>G (p.Asp4436Gly) c.10160A>G (p.Asp3387Gly) c.9764A>G (p.Asp3255Gly) | dbSNP |
7 | g.152148653T>G | CA370091733 | KMT2C | c.1462A>C n.2406A>C c.13445A>C (p.Asp4482Ala) n.2574A>C n.8466A>C c.3847A>C c.10784A>C (p.Asp3595Ala) n.4904A>C c.3919A>C n.2040A>C n.1990A>C c.1691A>C (p.Asp564Ala) c.8171A>C (p.Asp2724Ala) n.32A>C c.13274A>C (p.Asp4425Ala) c.9061A>C c.3916A>C c.3850A>C n.7985A>C c.8174A>C (p.Asp2725Ala) c.12839A>C (p.Asp4280Ala) c.3851A>C n.2289A>C c.5955A>C c.3125A>C (p.Asp1042Ala) n.11156A>C c.*10794A>C (n.*10794A>C) c.13490A>C (p.Asp4497Ala) c.13487A>C (p.Asp4496Ala) c.13325A>C (p.Asp4442Ala) c.13418A>C (p.Asp4473Ala) c.13322A>C (p.Asp4441Ala) c.13442A>C (p.Asp4481Ala) c.13370A>C (p.Asp4457Ala) c.13337A>C (p.Asp4446Ala) c.13253A>C (p.Asp4418Ala) c.12575A>C (p.Asp4192Ala) c.11036A>C (p.Asp3679Ala) c.13457A>C (p.Asp4486Ala) c.13439A>C (p.Asp4480Ala) c.13415A>C (p.Asp4472Ala) c.13343A>C (p.Asp4448Ala) c.13307A>C (p.Asp4436Ala) c.10160A>C (p.Asp3387Ala) c.9764A>C (p.Asp3255Ala) | |
7 | g.152148653T= | CA1752986096 | KMT2C | c.1462A= n.2406A= c.13445A= (p.Asp4482=) n.2574A= n.8466A= c.3847A= c.10784A= (p.Asp3595=) n.4904A= c.3919A= n.2040A= n.1990A= c.1691A= (p.Asp564=) c.8171A= (p.Asp2724=) n.32A= c.13274A= (p.Asp4425=) c.9061A= c.3916A= c.3850A= n.7985A= c.8174A= (p.Asp2725=) c.12839A= (p.Asp4280=) c.3851A= n.2289A= c.5955A= c.3125A= (p.Asp1042=) n.11156A= c.*10794A= (n.*10794A=) c.13490A= (p.Asp4497=) c.13487A= (p.Asp4496=) c.13325A= (p.Asp4442=) c.13418A= (p.Asp4473=) c.13322A= (p.Asp4441=) c.13442A= (p.Asp4481=) c.13370A= (p.Asp4457=) c.13337A= (p.Asp4446=) c.13253A= (p.Asp4418=) c.12575A= (p.Asp4192=) c.11036A= (p.Asp3679=) c.13457A= (p.Asp4486=) c.13439A= (p.Asp4480=) c.13415A= (p.Asp4472=) c.13343A= (p.Asp4448=) c.13307A= (p.Asp4436=) c.10160A= (p.Asp3387=) c.9764A= (p.Asp3255=) | |
7 | g.152148654C>A | CA370091738 | KMT2C | c.1461G>T n.2405G>T c.13444G>T (p.Asp4482Tyr) n.2573G>T n.8465G>T c.3846G>T c.10783G>T (p.Asp3595Tyr) n.4903G>T c.3918G>T n.2039G>T n.1989G>T c.1690G>T (p.Asp564Tyr) c.8170G>T (p.Asp2724Tyr) n.31G>T c.13273G>T (p.Asp4425Tyr) c.9060G>T c.3915G>T c.3849G>T n.7984G>T c.8173G>T (p.Asp2725Tyr) c.12838G>T (p.Asp4280Tyr) c.3850G>T n.2288G>T c.5954G>T c.3124G>T (p.Asp1042Tyr) n.11155G>T c.*10793G>T (n.*10793G>T) c.13489G>T (p.Asp4497Tyr) c.13486G>T (p.Asp4496Tyr) c.13324G>T (p.Asp4442Tyr) c.13417G>T (p.Asp4473Tyr) c.13321G>T (p.Asp4441Tyr) c.13441G>T (p.Asp4481Tyr) c.13369G>T (p.Asp4457Tyr) c.13336G>T (p.Asp4446Tyr) c.13252G>T (p.Asp4418Tyr) c.12574G>T (p.Asp4192Tyr) c.11035G>T (p.Asp3679Tyr) c.13456G>T (p.Asp4486Tyr) c.13438G>T (p.Asp4480Tyr) c.13414G>T (p.Asp4472Tyr) c.13342G>T (p.Asp4448Tyr) c.13306G>T (p.Asp4436Tyr) c.10159G>T (p.Asp3387Tyr) c.9763G>T (p.Asp3255Tyr) | dbSNP COSMIC COSMIC |
7 | g.152148654C>G | CA370091737 | KMT2C | c.1461G>C n.2405G>C c.13444G>C (p.Asp4482His) n.2573G>C n.8465G>C c.3846G>C c.10783G>C (p.Asp3595His) n.4903G>C c.3918G>C n.2039G>C n.1989G>C c.1690G>C (p.Asp564His) c.8170G>C (p.Asp2724His) n.31G>C c.13273G>C (p.Asp4425His) c.9060G>C c.3915G>C c.3849G>C n.7984G>C c.8173G>C (p.Asp2725His) c.12838G>C (p.Asp4280His) c.3850G>C n.2288G>C c.5954G>C c.3124G>C (p.Asp1042His) n.11155G>C c.*10793G>C (n.*10793G>C) c.13489G>C (p.Asp4497His) c.13486G>C (p.Asp4496His) c.13324G>C (p.Asp4442His) c.13417G>C (p.Asp4473His) c.13321G>C (p.Asp4441His) c.13441G>C (p.Asp4481His) c.13369G>C (p.Asp4457His) c.13336G>C (p.Asp4446His) c.13252G>C (p.Asp4418His) c.12574G>C (p.Asp4192His) c.11035G>C (p.Asp3679His) c.13456G>C (p.Asp4486His) c.13438G>C (p.Asp4480His) c.13414G>C (p.Asp4472His) c.13342G>C (p.Asp4448His) c.13306G>C (p.Asp4436His) c.10159G>C (p.Asp3387His) c.9763G>C (p.Asp3255His) | |
7 | g.152148654C>T | CA370091735 | KMT2C | c.1461G>A n.2405G>A c.13444G>A (p.Asp4482Asn) n.2573G>A n.8465G>A c.3846G>A c.10783G>A (p.Asp3595Asn) n.4903G>A c.3918G>A n.2039G>A n.1989G>A c.1690G>A (p.Asp564Asn) c.8170G>A (p.Asp2724Asn) n.31G>A c.13273G>A (p.Asp4425Asn) c.9060G>A c.3915G>A c.3849G>A n.7984G>A c.8173G>A (p.Asp2725Asn) c.12838G>A (p.Asp4280Asn) c.3850G>A n.2288G>A c.5954G>A c.3124G>A (p.Asp1042Asn) n.11155G>A c.*10793G>A (n.*10793G>A) c.13489G>A (p.Asp4497Asn) c.13486G>A (p.Asp4496Asn) c.13324G>A (p.Asp4442Asn) c.13417G>A (p.Asp4473Asn) c.13321G>A (p.Asp4441Asn) c.13441G>A (p.Asp4481Asn) c.13369G>A (p.Asp4457Asn) c.13336G>A (p.Asp4446Asn) c.13252G>A (p.Asp4418Asn) c.12574G>A (p.Asp4192Asn) c.11035G>A (p.Asp3679Asn) c.13456G>A (p.Asp4486Asn) c.13438G>A (p.Asp4480Asn) c.13414G>A (p.Asp4472Asn) c.13342G>A (p.Asp4448Asn) c.13306G>A (p.Asp4436Asn) c.10159G>A (p.Asp3387Asn) c.9763G>A (p.Asp3255Asn) | ClinVar |
7 | g.152148655C>A | CA370091740 | KMT2C | c.1460G>T n.2404G>T c.13443G>T (p.Leu4481Phe) n.2572G>T n.8464G>T c.3845G>T c.10782G>T (p.Leu3594Phe) n.4902G>T c.3917G>T n.2038G>T n.1988G>T c.1689G>T (p.Leu563Phe) c.8169G>T (p.Leu2723Phe) n.30G>T c.13272G>T (p.Leu4424Phe) c.9059G>T c.3914G>T c.3848G>T n.7983G>T c.8172G>T (p.Leu2724Phe) c.12837G>T (p.Leu4279Phe) c.3849G>T n.2287G>T c.5953G>T c.3123G>T (p.Leu1041Phe) n.11154G>T c.*10792G>T (n.*10792G>T) c.13488G>T (p.Leu4496Phe) c.13485G>T (p.Leu4495Phe) c.13323G>T (p.Leu4441Phe) c.13416G>T (p.Leu4472Phe) c.13320G>T (p.Leu4440Phe) c.13440G>T (p.Leu4480Phe) c.13368G>T (p.Leu4456Phe) c.13335G>T (p.Leu4445Phe) c.13251G>T (p.Leu4417Phe) c.12573G>T (p.Leu4191Phe) c.11034G>T (p.Leu3678Phe) c.13455G>T (p.Leu4485Phe) c.13437G>T (p.Leu4479Phe) c.13413G>T (p.Leu4471Phe) c.13341G>T (p.Leu4447Phe) c.13305G>T (p.Leu4435Phe) c.10158G>T (p.Leu3386Phe) c.9762G>T (p.Leu3254Phe) | dbSNP |
7 | g.152148655C= | CA1752986104 | KMT2C | c.1460G= n.2404G= c.13443G= (p.Leu4481=) n.2572G= n.8464G= c.3845G= c.10782G= (p.Leu3594=) n.4902G= c.3917G= n.2038G= n.1988G= c.1689G= (p.Leu563=) c.8169G= (p.Leu2723=) n.30G= c.13272G= (p.Leu4424=) c.9059G= c.3914G= c.3848G= n.7983G= c.8172G= (p.Leu2724=) c.12837G= (p.Leu4279=) c.3849G= n.2287G= c.5953G= c.3123G= (p.Leu1041=) n.11154G= c.*10792G= (n.*10792G=) c.13488G= (p.Leu4496=) c.13485G= (p.Leu4495=) c.13323G= (p.Leu4441=) c.13416G= (p.Leu4472=) c.13320G= (p.Leu4440=) c.13440G= (p.Leu4480=) c.13368G= (p.Leu4456=) c.13335G= (p.Leu4445=) c.13251G= (p.Leu4417=) c.12573G= (p.Leu4191=) c.11034G= (p.Leu3678=) c.13455G= (p.Leu4485=) c.13437G= (p.Leu4479=) c.13413G= (p.Leu4471=) c.13341G= (p.Leu4447=) c.13305G= (p.Leu4435=) c.10158G= (p.Leu3386=) c.9762G= (p.Leu3254=) | |
7 | g.152148655C>G | CA370091743 | KMT2C | c.1460G>C n.2404G>C c.13443G>C (p.Leu4481Phe) n.2572G>C n.8464G>C c.3845G>C c.10782G>C (p.Leu3594Phe) n.4902G>C c.3917G>C n.2038G>C n.1988G>C c.1689G>C (p.Leu563Phe) c.8169G>C (p.Leu2723Phe) n.30G>C c.13272G>C (p.Leu4424Phe) c.9059G>C c.3914G>C c.3848G>C n.7983G>C c.8172G>C (p.Leu2724Phe) c.12837G>C (p.Leu4279Phe) c.3849G>C n.2287G>C c.5953G>C c.3123G>C (p.Leu1041Phe) n.11154G>C c.*10792G>C (n.*10792G>C) c.13488G>C (p.Leu4496Phe) c.13485G>C (p.Leu4495Phe) c.13323G>C (p.Leu4441Phe) c.13416G>C (p.Leu4472Phe) c.13320G>C (p.Leu4440Phe) c.13440G>C (p.Leu4480Phe) c.13368G>C (p.Leu4456Phe) c.13335G>C (p.Leu4445Phe) c.13251G>C (p.Leu4417Phe) c.12573G>C (p.Leu4191Phe) c.11034G>C (p.Leu3678Phe) c.13455G>C (p.Leu4485Phe) c.13437G>C (p.Leu4479Phe) c.13413G>C (p.Leu4471Phe) c.13341G>C (p.Leu4447Phe) c.13305G>C (p.Leu4435Phe) c.10158G>C (p.Leu3386Phe) c.9762G>C (p.Leu3254Phe) | |
7 | g.152148655C>T | CA4578648 | KMT2C | c.1460G>A n.2404G>A c.13443G>A (p.Leu4481=) n.2572G>A n.8464G>A c.3845G>A c.10782G>A (p.Leu3594=) n.4902G>A c.3917G>A n.2038G>A n.1988G>A c.1689G>A (p.Leu563=) c.8169G>A (p.Leu2723=) n.30G>A c.13272G>A (p.Leu4424=) c.9059G>A c.3914G>A c.3848G>A n.7983G>A c.8172G>A (p.Leu2724=) c.12837G>A (p.Leu4279=) c.3849G>A n.2287G>A c.5953G>A c.3123G>A (p.Leu1041=) n.11154G>A c.*10792G>A (n.*10792G>A) c.13488G>A (p.Leu4496=) c.13485G>A (p.Leu4495=) c.13323G>A (p.Leu4441=) c.13416G>A (p.Leu4472=) c.13320G>A (p.Leu4440=) c.13440G>A (p.Leu4480=) c.13368G>A (p.Leu4456=) c.13335G>A (p.Leu4445=) c.13251G>A (p.Leu4417=) c.12573G>A (p.Leu4191=) c.11034G>A (p.Leu3678=) c.13455G>A (p.Leu4485=) c.13437G>A (p.Leu4479=) c.13413G>A (p.Leu4471=) c.13341G>A (p.Leu4447=) c.13305G>A (p.Leu4435=) c.10158G>A (p.Leu3386=) c.9762G>A (p.Leu3254=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.152148656A>C | CA370091745 | KMT2C | c.1459T>G n.2403T>G c.13442T>G (p.Leu4481Trp) n.2571T>G n.8463T>G c.3844T>G c.10781T>G (p.Leu3594Trp) n.4901T>G c.3916T>G n.2037T>G n.1987T>G c.1688T>G (p.Leu563Trp) c.8168T>G (p.Leu2723Trp) n.29T>G c.13271T>G (p.Leu4424Trp) c.9058T>G c.3913T>G c.3847T>G n.7982T>G c.8171T>G (p.Leu2724Trp) c.12836T>G (p.Leu4279Trp) c.3848T>G n.2286T>G c.5952T>G c.3122T>G (p.Leu1041Trp) n.11153T>G c.*10791T>G (n.*10791T>G) c.13487T>G (p.Leu4496Trp) c.13484T>G (p.Leu4495Trp) c.13322T>G (p.Leu4441Trp) c.13415T>G (p.Leu4472Trp) c.13319T>G (p.Leu4440Trp) c.13439T>G (p.Leu4480Trp) c.13367T>G (p.Leu4456Trp) c.13334T>G (p.Leu4445Trp) c.13250T>G (p.Leu4417Trp) c.12572T>G (p.Leu4191Trp) c.11033T>G (p.Leu3678Trp) c.13454T>G (p.Leu4485Trp) c.13436T>G (p.Leu4479Trp) c.13412T>G (p.Leu4471Trp) c.13340T>G (p.Leu4447Trp) c.13304T>G (p.Leu4435Trp) c.10157T>G (p.Leu3386Trp) c.9761T>G (p.Leu3254Trp) | |
7 | g.152148656A>G | CA370091746 | KMT2C | c.1459T>C n.2403T>C c.13442T>C (p.Leu4481Ser) n.2571T>C n.8463T>C c.3844T>C c.10781T>C (p.Leu3594Ser) n.4901T>C c.3916T>C n.2037T>C n.1987T>C c.1688T>C (p.Leu563Ser) c.8168T>C (p.Leu2723Ser) n.29T>C c.13271T>C (p.Leu4424Ser) c.9058T>C c.3913T>C c.3847T>C n.7982T>C c.8171T>C (p.Leu2724Ser) c.12836T>C (p.Leu4279Ser) c.3848T>C n.2286T>C c.5952T>C c.3122T>C (p.Leu1041Ser) n.11153T>C c.*10791T>C (n.*10791T>C) c.13487T>C (p.Leu4496Ser) c.13484T>C (p.Leu4495Ser) c.13322T>C (p.Leu4441Ser) c.13415T>C (p.Leu4472Ser) c.13319T>C (p.Leu4440Ser) c.13439T>C (p.Leu4480Ser) c.13367T>C (p.Leu4456Ser) c.13334T>C (p.Leu4445Ser) c.13250T>C (p.Leu4417Ser) c.12572T>C (p.Leu4191Ser) c.11033T>C (p.Leu3678Ser) c.13454T>C (p.Leu4485Ser) c.13436T>C (p.Leu4479Ser) c.13412T>C (p.Leu4471Ser) c.13340T>C (p.Leu4447Ser) c.13304T>C (p.Leu4435Ser) c.10157T>C (p.Leu3386Ser) c.9761T>C (p.Leu3254Ser) | |
7 | g.152148656A>T | CA370091748 | KMT2C | c.1459T>A n.2403T>A c.13442T>A (p.Leu4481Ter) n.2571T>A n.8463T>A c.3844T>A c.10781T>A (p.Leu3594Ter) n.4901T>A c.3916T>A n.2037T>A n.1987T>A c.1688T>A (p.Leu563Ter) c.8168T>A (p.Leu2723Ter) n.29T>A c.13271T>A (p.Leu4424Ter) c.9058T>A c.3913T>A c.3847T>A n.7982T>A c.8171T>A (p.Leu2724Ter) c.12836T>A (p.Leu4279Ter) c.3848T>A n.2286T>A c.5952T>A c.3122T>A (p.Leu1041Ter) n.11153T>A c.*10791T>A (n.*10791T>A) c.13487T>A (p.Leu4496Ter) c.13484T>A (p.Leu4495Ter) c.13322T>A (p.Leu4441Ter) c.13415T>A (p.Leu4472Ter) c.13319T>A (p.Leu4440Ter) c.13439T>A (p.Leu4480Ter) c.13367T>A (p.Leu4456Ter) c.13334T>A (p.Leu4445Ter) c.13250T>A (p.Leu4417Ter) c.12572T>A (p.Leu4191Ter) c.11033T>A (p.Leu3678Ter) c.13454T>A (p.Leu4485Ter) c.13436T>A (p.Leu4479Ter) c.13412T>A (p.Leu4471Ter) c.13340T>A (p.Leu4447Ter) c.13304T>A (p.Leu4435Ter) c.10157T>A (p.Leu3386Ter) c.9761T>A (p.Leu3254Ter) | |
7 | g.152148657A= | CA1752986111 | KMT2C | c.1458T= n.2402T= c.13441T= (p.Leu4481=) n.2570T= n.8462T= c.3843T= c.10780T= (p.Leu3594=) n.4900T= c.3915T= n.2036T= n.1986T= c.1687T= (p.Leu563=) c.8167T= (p.Leu2723=) n.28T= c.13270T= (p.Leu4424=) c.9057T= c.3912T= c.3846T= n.7981T= c.8170T= (p.Leu2724=) c.12835T= (p.Leu4279=) c.3847T= n.2285T= c.5951T= c.3121T= (p.Leu1041=) n.11152T= c.*10790T= (n.*10790T=) c.13486T= (p.Leu4496=) c.13483T= (p.Leu4495=) c.13321T= (p.Leu4441=) c.13414T= (p.Leu4472=) c.13318T= (p.Leu4440=) c.13438T= (p.Leu4480=) c.13366T= (p.Leu4456=) c.13333T= (p.Leu4445=) c.13249T= (p.Leu4417=) c.12571T= (p.Leu4191=) c.11032T= (p.Leu3678=) c.13453T= (p.Leu4485=) c.13435T= (p.Leu4479=) c.13411T= (p.Leu4471=) c.13339T= (p.Leu4447=) c.13303T= (p.Leu4435=) c.10156T= (p.Leu3386=) c.9760T= (p.Leu3254=) | |
7 | g.152148657A>C | CA370091751 | KMT2C | c.1458T>G n.2402T>G c.13441T>G (p.Leu4481Val) n.2570T>G n.8462T>G c.3843T>G c.10780T>G (p.Leu3594Val) n.4900T>G c.3915T>G n.2036T>G n.1986T>G c.1687T>G (p.Leu563Val) c.8167T>G (p.Leu2723Val) n.28T>G c.13270T>G (p.Leu4424Val) c.9057T>G c.3912T>G c.3846T>G n.7981T>G c.8170T>G (p.Leu2724Val) c.12835T>G (p.Leu4279Val) c.3847T>G n.2285T>G c.5951T>G c.3121T>G (p.Leu1041Val) n.11152T>G c.*10790T>G (n.*10790T>G) c.13486T>G (p.Leu4496Val) c.13483T>G (p.Leu4495Val) c.13321T>G (p.Leu4441Val) c.13414T>G (p.Leu4472Val) c.13318T>G (p.Leu4440Val) c.13438T>G (p.Leu4480Val) c.13366T>G (p.Leu4456Val) c.13333T>G (p.Leu4445Val) c.13249T>G (p.Leu4417Val) c.12571T>G (p.Leu4191Val) c.11032T>G (p.Leu3678Val) c.13453T>G (p.Leu4485Val) c.13435T>G (p.Leu4479Val) c.13411T>G (p.Leu4471Val) c.13339T>G (p.Leu4447Val) c.13303T>G (p.Leu4435Val) c.10156T>G (p.Leu3386Val) c.9760T>G (p.Leu3254Val) | |
7 | g.152148657A>G | CA458884897 | KMT2C | c.1458T>C n.2402T>C c.13441T>C (p.Leu4481=) n.2570T>C n.8462T>C c.3843T>C c.10780T>C (p.Leu3594=) n.4900T>C c.3915T>C n.2036T>C n.1986T>C c.1687T>C (p.Leu563=) c.8167T>C (p.Leu2723=) n.28T>C c.13270T>C (p.Leu4424=) c.9057T>C c.3912T>C c.3846T>C n.7981T>C c.8170T>C (p.Leu2724=) c.12835T>C (p.Leu4279=) c.3847T>C n.2285T>C c.5951T>C c.3121T>C (p.Leu1041=) n.11152T>C c.*10790T>C (n.*10790T>C) c.13486T>C (p.Leu4496=) c.13483T>C (p.Leu4495=) c.13321T>C (p.Leu4441=) c.13414T>C (p.Leu4472=) c.13318T>C (p.Leu4440=) c.13438T>C (p.Leu4480=) c.13366T>C (p.Leu4456=) c.13333T>C (p.Leu4445=) c.13249T>C (p.Leu4417=) c.12571T>C (p.Leu4191=) c.11032T>C (p.Leu3678=) c.13453T>C (p.Leu4485=) c.13435T>C (p.Leu4479=) c.13411T>C (p.Leu4471=) c.13339T>C (p.Leu4447=) c.13303T>C (p.Leu4435=) c.10156T>C (p.Leu3386=) c.9760T>C (p.Leu3254=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.152148657A>T | CA370091753 | KMT2C | c.1458T>A n.2402T>A c.13441T>A (p.Leu4481Met) n.2570T>A n.8462T>A c.3843T>A c.10780T>A (p.Leu3594Met) n.4900T>A c.3915T>A n.2036T>A n.1986T>A c.1687T>A (p.Leu563Met) c.8167T>A (p.Leu2723Met) n.28T>A c.13270T>A (p.Leu4424Met) c.9057T>A c.3912T>A c.3846T>A n.7981T>A c.8170T>A (p.Leu2724Met) c.12835T>A (p.Leu4279Met) c.3847T>A n.2285T>A c.5951T>A c.3121T>A (p.Leu1041Met) n.11152T>A c.*10790T>A (n.*10790T>A) c.13486T>A (p.Leu4496Met) c.13483T>A (p.Leu4495Met) c.13321T>A (p.Leu4441Met) c.13414T>A (p.Leu4472Met) c.13318T>A (p.Leu4440Met) c.13438T>A (p.Leu4480Met) c.13366T>A (p.Leu4456Met) c.13333T>A (p.Leu4445Met) c.13249T>A (p.Leu4417Met) c.12571T>A (p.Leu4191Met) c.11032T>A (p.Leu3678Met) c.13453T>A (p.Leu4485Met) c.13435T>A (p.Leu4479Met) c.13411T>A (p.Leu4471Met) c.13339T>A (p.Leu4447Met) c.13303T>A (p.Leu4435Met) c.10156T>A (p.Leu3386Met) c.9760T>A (p.Leu3254Met) | |
7 | g.152148658G>A | CA458884899 | KMT2C | c.1457C>T n.2401C>T c.13440C>T (p.Asp4480=) n.2569C>T n.8461C>T c.3842C>T c.10779C>T (p.Asp3593=) n.4899C>T c.3914C>T n.2035C>T n.1985C>T c.1686C>T (p.Asp562=) c.8166C>T (p.Asp2722=) n.27C>T c.13269C>T (p.Asp4423=) c.9056C>T c.3911C>T c.3845C>T n.7980C>T c.8169C>T (p.Asp2723=) c.12834C>T (p.Asp4278=) c.3846C>T n.2284C>T c.5950C>T c.3120C>T (p.Asp1040=) n.11151C>T c.*10789C>T (n.*10789C>T) c.13485C>T (p.Asp4495=) c.13482C>T (p.Asp4494=) c.13320C>T (p.Asp4440=) c.13413C>T (p.Asp4471=) c.13317C>T (p.Asp4439=) c.13437C>T (p.Asp4479=) c.13365C>T (p.Asp4455=) c.13332C>T (p.Asp4444=) c.13248C>T (p.Asp4416=) c.12570C>T (p.Asp4190=) c.11031C>T (p.Asp3677=) c.13452C>T (p.Asp4484=) c.13434C>T (p.Asp4478=) c.13410C>T (p.Asp4470=) c.13338C>T (p.Asp4446=) c.13302C>T (p.Asp4434=) c.10155C>T (p.Asp3385=) c.9759C>T (p.Asp3253=) | gnomAD v4 |
7 | g.152148658G>C | CA370091755 | KMT2C | c.1457C>G n.2401C>G c.13440C>G (p.Asp4480Glu) n.2569C>G n.8461C>G c.3842C>G c.10779C>G (p.Asp3593Glu) n.4899C>G c.3914C>G n.2035C>G n.1985C>G c.1686C>G (p.Asp562Glu) c.8166C>G (p.Asp2722Glu) n.27C>G c.13269C>G (p.Asp4423Glu) c.9056C>G c.3911C>G c.3845C>G n.7980C>G c.8169C>G (p.Asp2723Glu) c.12834C>G (p.Asp4278Glu) c.3846C>G n.2284C>G c.5950C>G c.3120C>G (p.Asp1040Glu) n.11151C>G c.*10789C>G (n.*10789C>G) c.13485C>G (p.Asp4495Glu) c.13482C>G (p.Asp4494Glu) c.13320C>G (p.Asp4440Glu) c.13413C>G (p.Asp4471Glu) c.13317C>G (p.Asp4439Glu) c.13437C>G (p.Asp4479Glu) c.13365C>G (p.Asp4455Glu) c.13332C>G (p.Asp4444Glu) c.13248C>G (p.Asp4416Glu) c.12570C>G (p.Asp4190Glu) c.11031C>G (p.Asp3677Glu) c.13452C>G (p.Asp4484Glu) c.13434C>G (p.Asp4478Glu) c.13410C>G (p.Asp4470Glu) c.13338C>G (p.Asp4446Glu) c.13302C>G (p.Asp4434Glu) c.10155C>G (p.Asp3385Glu) c.9759C>G (p.Asp3253Glu) | |
7 | g.152148658G>T | CA370091757 | KMT2C | c.1457C>A n.2401C>A c.13440C>A (p.Asp4480Glu) n.2569C>A n.8461C>A c.3842C>A c.10779C>A (p.Asp3593Glu) n.4899C>A c.3914C>A n.2035C>A n.1985C>A c.1686C>A (p.Asp562Glu) c.8166C>A (p.Asp2722Glu) n.27C>A c.13269C>A (p.Asp4423Glu) c.9056C>A c.3911C>A c.3845C>A n.7980C>A c.8169C>A (p.Asp2723Glu) c.12834C>A (p.Asp4278Glu) c.3846C>A n.2284C>A c.5950C>A c.3120C>A (p.Asp1040Glu) n.11151C>A c.*10789C>A (n.*10789C>A) c.13485C>A (p.Asp4495Glu) c.13482C>A (p.Asp4494Glu) c.13320C>A (p.Asp4440Glu) c.13413C>A (p.Asp4471Glu) c.13317C>A (p.Asp4439Glu) c.13437C>A (p.Asp4479Glu) c.13365C>A (p.Asp4455Glu) c.13332C>A (p.Asp4444Glu) c.13248C>A (p.Asp4416Glu) c.12570C>A (p.Asp4190Glu) c.11031C>A (p.Asp3677Glu) c.13452C>A (p.Asp4484Glu) c.13434C>A (p.Asp4478Glu) c.13410C>A (p.Asp4470Glu) c.13338C>A (p.Asp4446Glu) c.13302C>A (p.Asp4434Glu) c.10155C>A (p.Asp3385Glu) c.9759C>A (p.Asp3253Glu) | |
7 | g.152148659T>A | CA370091758 | KMT2C | c.1456A>T n.2400A>T c.13439A>T (p.Asp4480Val) n.2568A>T n.8460A>T c.3841A>T c.10778A>T (p.Asp3593Val) n.4898A>T c.3913A>T n.2034A>T n.1984A>T c.1685A>T (p.Asp562Val) c.8165A>T (p.Asp2722Val) n.26A>T c.13268A>T (p.Asp4423Val) c.9055A>T c.3910A>T c.3844A>T n.7979A>T c.8168A>T (p.Asp2723Val) c.12833A>T (p.Asp4278Val) c.3845A>T n.2283A>T c.5949A>T c.3119A>T (p.Asp1040Val) n.11150A>T c.*10788A>T (n.*10788A>T) c.13484A>T (p.Asp4495Val) c.13481A>T (p.Asp4494Val) c.13319A>T (p.Asp4440Val) c.13412A>T (p.Asp4471Val) c.13316A>T (p.Asp4439Val) c.13436A>T (p.Asp4479Val) c.13364A>T (p.Asp4455Val) c.13331A>T (p.Asp4444Val) c.13247A>T (p.Asp4416Val) c.12569A>T (p.Asp4190Val) c.11030A>T (p.Asp3677Val) c.13451A>T (p.Asp4484Val) c.13433A>T (p.Asp4478Val) c.13409A>T (p.Asp4470Val) c.13337A>T (p.Asp4446Val) c.13301A>T (p.Asp4434Val) c.10154A>T (p.Asp3385Val) c.9758A>T (p.Asp3253Val) | dbSNP |
7 | g.152148659T>C | CA370091759 | KMT2C | c.1456A>G n.2400A>G c.13439A>G (p.Asp4480Gly) n.2568A>G n.8460A>G c.3841A>G c.10778A>G (p.Asp3593Gly) n.4898A>G c.3913A>G n.2034A>G n.1984A>G c.1685A>G (p.Asp562Gly) c.8165A>G (p.Asp2722Gly) n.26A>G c.13268A>G (p.Asp4423Gly) c.9055A>G c.3910A>G c.3844A>G n.7979A>G c.8168A>G (p.Asp2723Gly) c.12833A>G (p.Asp4278Gly) c.3845A>G n.2283A>G c.5949A>G c.3119A>G (p.Asp1040Gly) n.11150A>G c.*10788A>G (n.*10788A>G) c.13484A>G (p.Asp4495Gly) c.13481A>G (p.Asp4494Gly) c.13319A>G (p.Asp4440Gly) c.13412A>G (p.Asp4471Gly) c.13316A>G (p.Asp4439Gly) c.13436A>G (p.Asp4479Gly) c.13364A>G (p.Asp4455Gly) c.13331A>G (p.Asp4444Gly) c.13247A>G (p.Asp4416Gly) c.12569A>G (p.Asp4190Gly) c.11030A>G (p.Asp3677Gly) c.13451A>G (p.Asp4484Gly) c.13433A>G (p.Asp4478Gly) c.13409A>G (p.Asp4470Gly) c.13337A>G (p.Asp4446Gly) c.13301A>G (p.Asp4434Gly) c.10154A>G (p.Asp3385Gly) c.9758A>G (p.Asp3253Gly) | |
7 | g.152148659T>G | CA370091761 | KMT2C | c.1456A>C n.2400A>C c.13439A>C (p.Asp4480Ala) n.2568A>C n.8460A>C c.3841A>C c.10778A>C (p.Asp3593Ala) n.4898A>C c.3913A>C n.2034A>C n.1984A>C c.1685A>C (p.Asp562Ala) c.8165A>C (p.Asp2722Ala) n.26A>C c.13268A>C (p.Asp4423Ala) c.9055A>C c.3910A>C c.3844A>C n.7979A>C c.8168A>C (p.Asp2723Ala) c.12833A>C (p.Asp4278Ala) c.3845A>C n.2283A>C c.5949A>C c.3119A>C (p.Asp1040Ala) n.11150A>C c.*10788A>C (n.*10788A>C) c.13484A>C (p.Asp4495Ala) c.13481A>C (p.Asp4494Ala) c.13319A>C (p.Asp4440Ala) c.13412A>C (p.Asp4471Ala) c.13316A>C (p.Asp4439Ala) c.13436A>C (p.Asp4479Ala) c.13364A>C (p.Asp4455Ala) c.13331A>C (p.Asp4444Ala) c.13247A>C (p.Asp4416Ala) c.12569A>C (p.Asp4190Ala) c.11030A>C (p.Asp3677Ala) c.13451A>C (p.Asp4484Ala) c.13433A>C (p.Asp4478Ala) c.13409A>C (p.Asp4470Ala) c.13337A>C (p.Asp4446Ala) c.13301A>C (p.Asp4434Ala) c.10154A>C (p.Asp3385Ala) c.9758A>C (p.Asp3253Ala) | |
7 | g.152148660C>A | CA370091763 | KMT2C | c.1455G>T n.2399G>T c.13438G>T (p.Asp4480Tyr) n.2567G>T n.8459G>T c.3840G>T c.10777G>T (p.Asp3593Tyr) n.4897G>T c.3912G>T n.2033G>T n.1983G>T c.1684G>T (p.Asp562Tyr) c.8164G>T (p.Asp2722Tyr) n.25G>T c.13267G>T (p.Asp4423Tyr) c.9054G>T c.3909G>T c.3843G>T n.7978G>T c.8167G>T (p.Asp2723Tyr) c.12832G>T (p.Asp4278Tyr) c.3844G>T n.2282G>T c.5948G>T c.3118G>T (p.Asp1040Tyr) n.11149G>T c.*10787G>T (n.*10787G>T) c.13483G>T (p.Asp4495Tyr) c.13480G>T (p.Asp4494Tyr) c.13318G>T (p.Asp4440Tyr) c.13411G>T (p.Asp4471Tyr) c.13315G>T (p.Asp4439Tyr) c.13435G>T (p.Asp4479Tyr) c.13363G>T (p.Asp4455Tyr) c.13330G>T (p.Asp4444Tyr) c.13246G>T (p.Asp4416Tyr) c.12568G>T (p.Asp4190Tyr) c.11029G>T (p.Asp3677Tyr) c.13450G>T (p.Asp4484Tyr) c.13432G>T (p.Asp4478Tyr) c.13408G>T (p.Asp4470Tyr) c.13336G>T (p.Asp4446Tyr) c.13300G>T (p.Asp4434Tyr) c.10153G>T (p.Asp3385Tyr) c.9757G>T (p.Asp3253Tyr) | COSMIC COSMIC |
7 | g.152148660C= | CA1752986115 | KMT2C | c.1455G= n.2399G= c.13438G= (p.Asp4480=) n.2567G= n.8459G= c.3840G= c.10777G= (p.Asp3593=) n.4897G= c.3912G= n.2033G= n.1983G= c.1684G= (p.Asp562=) c.8164G= (p.Asp2722=) n.25G= c.13267G= (p.Asp4423=) c.9054G= c.3909G= c.3843G= n.7978G= c.8167G= (p.Asp2723=) c.12832G= (p.Asp4278=) c.3844G= n.2282G= c.5948G= c.3118G= (p.Asp1040=) n.11149G= c.*10787G= (n.*10787G=) c.13483G= (p.Asp4495=) c.13480G= (p.Asp4494=) c.13318G= (p.Asp4440=) c.13411G= (p.Asp4471=) c.13315G= (p.Asp4439=) c.13435G= (p.Asp4479=) c.13363G= (p.Asp4455=) c.13330G= (p.Asp4444=) c.13246G= (p.Asp4416=) c.12568G= (p.Asp4190=) c.11029G= (p.Asp3677=) c.13450G= (p.Asp4484=) c.13432G= (p.Asp4478=) c.13408G= (p.Asp4470=) c.13336G= (p.Asp4446=) c.13300G= (p.Asp4434=) c.10153G= (p.Asp3385=) c.9757G= (p.Asp3253=) | |
7 | g.152148660C>G | CA370091764 | KMT2C | c.1455G>C n.2399G>C c.13438G>C (p.Asp4480His) n.2567G>C n.8459G>C c.3840G>C c.10777G>C (p.Asp3593His) n.4897G>C c.3912G>C n.2033G>C n.1983G>C c.1684G>C (p.Asp562His) c.8164G>C (p.Asp2722His) n.25G>C c.13267G>C (p.Asp4423His) c.9054G>C c.3909G>C c.3843G>C n.7978G>C c.8167G>C (p.Asp2723His) c.12832G>C (p.Asp4278His) c.3844G>C n.2282G>C c.5948G>C c.3118G>C (p.Asp1040His) n.11149G>C c.*10787G>C (n.*10787G>C) c.13483G>C (p.Asp4495His) c.13480G>C (p.Asp4494His) c.13318G>C (p.Asp4440His) c.13411G>C (p.Asp4471His) c.13315G>C (p.Asp4439His) c.13435G>C (p.Asp4479His) c.13363G>C (p.Asp4455His) c.13330G>C (p.Asp4444His) c.13246G>C (p.Asp4416His) c.12568G>C (p.Asp4190His) c.11029G>C (p.Asp3677His) c.13450G>C (p.Asp4484His) c.13432G>C (p.Asp4478His) c.13408G>C (p.Asp4470His) c.13336G>C (p.Asp4446His) c.13300G>C (p.Asp4434His) c.10153G>C (p.Asp3385His) c.9757G>C (p.Asp3253His) | |
7 | g.152148660C>T | CA370091766 | KMT2C | c.1455G>A n.2399G>A c.13438G>A (p.Asp4480Asn) n.2567G>A n.8459G>A c.3840G>A c.10777G>A (p.Asp3593Asn) n.4897G>A c.3912G>A n.2033G>A n.1983G>A c.1684G>A (p.Asp562Asn) c.8164G>A (p.Asp2722Asn) n.25G>A c.13267G>A (p.Asp4423Asn) c.9054G>A c.3909G>A c.3843G>A n.7978G>A c.8167G>A (p.Asp2723Asn) c.12832G>A (p.Asp4278Asn) c.3844G>A n.2282G>A c.5948G>A c.3118G>A (p.Asp1040Asn) n.11149G>A c.*10787G>A (n.*10787G>A) c.13483G>A (p.Asp4495Asn) c.13480G>A (p.Asp4494Asn) c.13318G>A (p.Asp4440Asn) c.13411G>A (p.Asp4471Asn) c.13315G>A (p.Asp4439Asn) c.13435G>A (p.Asp4479Asn) c.13363G>A (p.Asp4455Asn) c.13330G>A (p.Asp4444Asn) c.13246G>A (p.Asp4416Asn) c.12568G>A (p.Asp4190Asn) c.11029G>A (p.Asp3677Asn) c.13450G>A (p.Asp4484Asn) c.13432G>A (p.Asp4478Asn) c.13408G>A (p.Asp4470Asn) c.13336G>A (p.Asp4446Asn) c.13300G>A (p.Asp4434Asn) c.10153G>A (p.Asp3385Asn) c.9757G>A (p.Asp3253Asn) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.152148661A>C | CA458884906 | KMT2C | c.1454T>G n.2398T>G c.13437T>G (p.Leu4479=) n.2566T>G n.8458T>G c.3839T>G c.10776T>G (p.Leu3592=) n.4896T>G c.3911T>G n.2032T>G n.1982T>G c.1683T>G (p.Leu561=) c.8163T>G (p.Leu2721=) n.24T>G c.13266T>G (p.Leu4422=) c.9053T>G c.3908T>G c.3842T>G n.7977T>G c.8166T>G (p.Leu2722=) c.12831T>G (p.Leu4277=) c.3843T>G n.2281T>G c.5947T>G c.3117T>G (p.Leu1039=) n.11148T>G c.*10786T>G (n.*10786T>G) c.13482T>G (p.Leu4494=) c.13479T>G (p.Leu4493=) c.13317T>G (p.Leu4439=) c.13410T>G (p.Leu4470=) c.13314T>G (p.Leu4438=) c.13434T>G (p.Leu4478=) c.13362T>G (p.Leu4454=) c.13329T>G (p.Leu4443=) c.13245T>G (p.Leu4415=) c.12567T>G (p.Leu4189=) c.11028T>G (p.Leu3676=) c.13449T>G (p.Leu4483=) c.13431T>G (p.Leu4477=) c.13407T>G (p.Leu4469=) c.13335T>G (p.Leu4445=) c.13299T>G (p.Leu4433=) c.10152T>G (p.Leu3384=) c.9756T>G (p.Leu3252=) | |
7 | g.152148661A>G | CA458884907 | KMT2C | c.1454T>C n.2398T>C c.13437T>C (p.Leu4479=) n.2566T>C n.8458T>C c.3839T>C c.10776T>C (p.Leu3592=) n.4896T>C c.3911T>C n.2032T>C n.1982T>C c.1683T>C (p.Leu561=) c.8163T>C (p.Leu2721=) n.24T>C c.13266T>C (p.Leu4422=) c.9053T>C c.3908T>C c.3842T>C n.7977T>C c.8166T>C (p.Leu2722=) c.12831T>C (p.Leu4277=) c.3843T>C n.2281T>C c.5947T>C c.3117T>C (p.Leu1039=) n.11148T>C c.*10786T>C (n.*10786T>C) c.13482T>C (p.Leu4494=) c.13479T>C (p.Leu4493=) c.13317T>C (p.Leu4439=) c.13410T>C (p.Leu4470=) c.13314T>C (p.Leu4438=) c.13434T>C (p.Leu4478=) c.13362T>C (p.Leu4454=) c.13329T>C (p.Leu4443=) c.13245T>C (p.Leu4415=) c.12567T>C (p.Leu4189=) c.11028T>C (p.Leu3676=) c.13449T>C (p.Leu4483=) c.13431T>C (p.Leu4477=) c.13407T>C (p.Leu4469=) c.13335T>C (p.Leu4445=) c.13299T>C (p.Leu4433=) c.10152T>C (p.Leu3384=) c.9756T>C (p.Leu3252=) | |
7 | g.152148661A>T | CA458884908 | KMT2C | c.1454T>A n.2398T>A c.13437T>A (p.Leu4479=) n.2566T>A n.8458T>A c.3839T>A c.10776T>A (p.Leu3592=) n.4896T>A c.3911T>A n.2032T>A n.1982T>A c.1683T>A (p.Leu561=) c.8163T>A (p.Leu2721=) n.24T>A c.13266T>A (p.Leu4422=) c.9053T>A c.3908T>A c.3842T>A n.7977T>A c.8166T>A (p.Leu2722=) c.12831T>A (p.Leu4277=) c.3843T>A n.2281T>A c.5947T>A c.3117T>A (p.Leu1039=) n.11148T>A c.*10786T>A (n.*10786T>A) c.13482T>A (p.Leu4494=) c.13479T>A (p.Leu4493=) c.13317T>A (p.Leu4439=) c.13410T>A (p.Leu4470=) c.13314T>A (p.Leu4438=) c.13434T>A (p.Leu4478=) c.13362T>A (p.Leu4454=) c.13329T>A (p.Leu4443=) c.13245T>A (p.Leu4415=) c.12567T>A (p.Leu4189=) c.11028T>A (p.Leu3676=) c.13449T>A (p.Leu4483=) c.13431T>A (p.Leu4477=) c.13407T>A (p.Leu4469=) c.13335T>A (p.Leu4445=) c.13299T>A (p.Leu4433=) c.10152T>A (p.Leu3384=) c.9756T>A (p.Leu3252=) | |
7 | g.152148662A>C | CA370091771 | KMT2C | c.1453T>G n.2397T>G c.13436T>G (p.Leu4479Arg) n.2565T>G n.8457T>G c.3838T>G c.10775T>G (p.Leu3592Arg) n.4895T>G c.3910T>G n.2031T>G n.1981T>G c.1682T>G (p.Leu561Arg) c.8162T>G (p.Leu2721Arg) n.23T>G c.13265T>G (p.Leu4422Arg) c.9052T>G c.3907T>G c.3841T>G n.7976T>G c.8165T>G (p.Leu2722Arg) c.12830T>G (p.Leu4277Arg) c.3842T>G n.2280T>G c.5946T>G c.3116T>G (p.Leu1039Arg) n.11147T>G c.*10785T>G (n.*10785T>G) c.13481T>G (p.Leu4494Arg) c.13478T>G (p.Leu4493Arg) c.13316T>G (p.Leu4439Arg) c.13409T>G (p.Leu4470Arg) c.13313T>G (p.Leu4438Arg) c.13433T>G (p.Leu4478Arg) c.13361T>G (p.Leu4454Arg) c.13328T>G (p.Leu4443Arg) c.13244T>G (p.Leu4415Arg) c.12566T>G (p.Leu4189Arg) c.11027T>G (p.Leu3676Arg) c.13448T>G (p.Leu4483Arg) c.13430T>G (p.Leu4477Arg) c.13406T>G (p.Leu4469Arg) c.13334T>G (p.Leu4445Arg) c.13298T>G (p.Leu4433Arg) c.10151T>G (p.Leu3384Arg) c.9755T>G (p.Leu3252Arg) | |
7 | g.152148662A>G | CA370091770 | KMT2C | c.1453T>C n.2397T>C c.13436T>C (p.Leu4479Pro) n.2565T>C n.8457T>C c.3838T>C c.10775T>C (p.Leu3592Pro) n.4895T>C c.3910T>C n.2031T>C n.1981T>C c.1682T>C (p.Leu561Pro) c.8162T>C (p.Leu2721Pro) n.23T>C c.13265T>C (p.Leu4422Pro) c.9052T>C c.3907T>C c.3841T>C n.7976T>C c.8165T>C (p.Leu2722Pro) c.12830T>C (p.Leu4277Pro) c.3842T>C n.2280T>C c.5946T>C c.3116T>C (p.Leu1039Pro) n.11147T>C c.*10785T>C (n.*10785T>C) c.13481T>C (p.Leu4494Pro) c.13478T>C (p.Leu4493Pro) c.13316T>C (p.Leu4439Pro) c.13409T>C (p.Leu4470Pro) c.13313T>C (p.Leu4438Pro) c.13433T>C (p.Leu4478Pro) c.13361T>C (p.Leu4454Pro) c.13328T>C (p.Leu4443Pro) c.13244T>C (p.Leu4415Pro) c.12566T>C (p.Leu4189Pro) c.11027T>C (p.Leu3676Pro) c.13448T>C (p.Leu4483Pro) c.13430T>C (p.Leu4477Pro) c.13406T>C (p.Leu4469Pro) c.13334T>C (p.Leu4445Pro) c.13298T>C (p.Leu4433Pro) c.10151T>C (p.Leu3384Pro) c.9755T>C (p.Leu3252Pro) | |
7 | g.152148662A>T | CA370091768 | KMT2C | c.1453T>A n.2397T>A c.13436T>A (p.Leu4479His) n.2565T>A n.8457T>A c.3838T>A c.10775T>A (p.Leu3592His) n.4895T>A c.3910T>A n.2031T>A n.1981T>A c.1682T>A (p.Leu561His) c.8162T>A (p.Leu2721His) n.23T>A c.13265T>A (p.Leu4422His) c.9052T>A c.3907T>A c.3841T>A n.7976T>A c.8165T>A (p.Leu2722His) c.12830T>A (p.Leu4277His) c.3842T>A n.2280T>A c.5946T>A c.3116T>A (p.Leu1039His) n.11147T>A c.*10785T>A (n.*10785T>A) c.13481T>A (p.Leu4494His) c.13478T>A (p.Leu4493His) c.13316T>A (p.Leu4439His) c.13409T>A (p.Leu4470His) c.13313T>A (p.Leu4438His) c.13433T>A (p.Leu4478His) c.13361T>A (p.Leu4454His) c.13328T>A (p.Leu4443His) c.13244T>A (p.Leu4415His) c.12566T>A (p.Leu4189His) c.11027T>A (p.Leu3676His) c.13448T>A (p.Leu4483His) c.13430T>A (p.Leu4477His) c.13406T>A (p.Leu4469His) c.13334T>A (p.Leu4445His) c.13298T>A (p.Leu4433His) c.10151T>A (p.Leu3384His) c.9755T>A (p.Leu3252His) | |
7 | g.152148663G>A | CA370091773 | KMT2C | c.1452C>T n.2396C>T c.13435C>T (p.Leu4479Phe) n.2564C>T n.8456C>T c.3837C>T c.10774C>T (p.Leu3592Phe) n.4894C>T c.3909C>T n.2030C>T n.1980C>T c.1681C>T (p.Leu561Phe) c.8161C>T (p.Leu2721Phe) n.22C>T c.13264C>T (p.Leu4422Phe) c.9051C>T c.3906C>T c.3840C>T n.7975C>T c.8164C>T (p.Leu2722Phe) c.12829C>T (p.Leu4277Phe) c.3841C>T n.2279C>T c.5945C>T c.3115C>T (p.Leu1039Phe) n.11146C>T c.*10784C>T (n.*10784C>T) c.13480C>T (p.Leu4494Phe) c.13477C>T (p.Leu4493Phe) c.13315C>T (p.Leu4439Phe) c.13408C>T (p.Leu4470Phe) c.13312C>T (p.Leu4438Phe) c.13432C>T (p.Leu4478Phe) c.13360C>T (p.Leu4454Phe) c.13327C>T (p.Leu4443Phe) c.13243C>T (p.Leu4415Phe) c.12565C>T (p.Leu4189Phe) c.11026C>T (p.Leu3676Phe) c.13447C>T (p.Leu4483Phe) c.13429C>T (p.Leu4477Phe) c.13405C>T (p.Leu4469Phe) c.13333C>T (p.Leu4445Phe) c.13297C>T (p.Leu4433Phe) c.10150C>T (p.Leu3384Phe) c.9754C>T (p.Leu3252Phe) | dbSNP gnomAD v4 |
7 | g.152148663G>C | CA370091774 | KMT2C | c.1452C>G n.2396C>G c.13435C>G (p.Leu4479Val) n.2564C>G n.8456C>G c.3837C>G c.10774C>G (p.Leu3592Val) n.4894C>G c.3909C>G n.2030C>G n.1980C>G c.1681C>G (p.Leu561Val) c.8161C>G (p.Leu2721Val) n.22C>G c.13264C>G (p.Leu4422Val) c.9051C>G c.3906C>G c.3840C>G n.7975C>G c.8164C>G (p.Leu2722Val) c.12829C>G (p.Leu4277Val) c.3841C>G n.2279C>G c.5945C>G c.3115C>G (p.Leu1039Val) n.11146C>G c.*10784C>G (n.*10784C>G) c.13480C>G (p.Leu4494Val) c.13477C>G (p.Leu4493Val) c.13315C>G (p.Leu4439Val) c.13408C>G (p.Leu4470Val) c.13312C>G (p.Leu4438Val) c.13432C>G (p.Leu4478Val) c.13360C>G (p.Leu4454Val) c.13327C>G (p.Leu4443Val) c.13243C>G (p.Leu4415Val) c.12565C>G (p.Leu4189Val) c.11026C>G (p.Leu3676Val) c.13447C>G (p.Leu4483Val) c.13429C>G (p.Leu4477Val) c.13405C>G (p.Leu4469Val) c.13333C>G (p.Leu4445Val) c.13297C>G (p.Leu4433Val) c.10150C>G (p.Leu3384Val) c.9754C>G (p.Leu3252Val) | |
7 | g.152148663G>T | CA370091776 | KMT2C | c.1452C>A n.2396C>A c.13435C>A (p.Leu4479Ile) n.2564C>A n.8456C>A c.3837C>A c.10774C>A (p.Leu3592Ile) n.4894C>A c.3909C>A n.2030C>A n.1980C>A c.1681C>A (p.Leu561Ile) c.8161C>A (p.Leu2721Ile) n.22C>A c.13264C>A (p.Leu4422Ile) c.9051C>A c.3906C>A c.3840C>A n.7975C>A c.8164C>A (p.Leu2722Ile) c.12829C>A (p.Leu4277Ile) c.3841C>A n.2279C>A c.5945C>A c.3115C>A (p.Leu1039Ile) n.11146C>A c.*10784C>A (n.*10784C>A) c.13480C>A (p.Leu4494Ile) c.13477C>A (p.Leu4493Ile) c.13315C>A (p.Leu4439Ile) c.13408C>A (p.Leu4470Ile) c.13312C>A (p.Leu4438Ile) c.13432C>A (p.Leu4478Ile) c.13360C>A (p.Leu4454Ile) c.13327C>A (p.Leu4443Ile) c.13243C>A (p.Leu4415Ile) c.12565C>A (p.Leu4189Ile) c.11026C>A (p.Leu3676Ile) c.13447C>A (p.Leu4483Ile) c.13429C>A (p.Leu4477Ile) c.13405C>A (p.Leu4469Ile) c.13333C>A (p.Leu4445Ile) c.13297C>A (p.Leu4433Ile) c.10150C>A (p.Leu3384Ile) c.9754C>A (p.Leu3252Ile) | |
7 | g.152148664G>A | CA458884914 | KMT2C | c.1451C>T n.2395C>T c.13434C>T (p.Asn4478=) n.2563C>T n.8455C>T c.3836C>T c.10773C>T (p.Asn3591=) n.4893C>T c.3908C>T n.2029C>T n.1979C>T c.1680C>T (p.Asn560=) c.8160C>T (p.Asn2720=) n.21C>T c.13263C>T (p.Asn4421=) c.9050C>T c.3905C>T c.3839C>T n.7974C>T c.8163C>T (p.Asn2721=) c.12828C>T (p.Asn4276=) c.3840C>T n.2278C>T c.5944C>T c.3114C>T (p.Asn1038=) n.11145C>T c.*10783C>T (n.*10783C>T) c.13479C>T (p.Asn4493=) c.13476C>T (p.Asn4492=) c.13314C>T (p.Asn4438=) c.13407C>T (p.Asn4469=) c.13311C>T (p.Asn4437=) c.13431C>T (p.Asn4477=) c.13359C>T (p.Asn4453=) c.13326C>T (p.Asn4442=) c.13242C>T (p.Asn4414=) c.12564C>T (p.Asn4188=) c.11025C>T (p.Asn3675=) c.13446C>T (p.Asn4482=) c.13428C>T (p.Asn4476=) c.13404C>T (p.Asn4468=) c.13332C>T (p.Asn4444=) c.13296C>T (p.Asn4432=) c.10149C>T (p.Asn3383=) c.9753C>T (p.Asn3251=) | |
7 | g.152148664G>C | CA370091777 | KMT2C | c.1451C>G n.2395C>G c.13434C>G (p.Asn4478Lys) n.2563C>G n.8455C>G c.3836C>G c.10773C>G (p.Asn3591Lys) n.4893C>G c.3908C>G n.2029C>G n.1979C>G c.1680C>G (p.Asn560Lys) c.8160C>G (p.Asn2720Lys) n.21C>G c.13263C>G (p.Asn4421Lys) c.9050C>G c.3905C>G c.3839C>G n.7974C>G c.8163C>G (p.Asn2721Lys) c.12828C>G (p.Asn4276Lys) c.3840C>G n.2278C>G c.5944C>G c.3114C>G (p.Asn1038Lys) n.11145C>G c.*10783C>G (n.*10783C>G) c.13479C>G (p.Asn4493Lys) c.13476C>G (p.Asn4492Lys) c.13314C>G (p.Asn4438Lys) c.13407C>G (p.Asn4469Lys) c.13311C>G (p.Asn4437Lys) c.13431C>G (p.Asn4477Lys) c.13359C>G (p.Asn4453Lys) c.13326C>G (p.Asn4442Lys) c.13242C>G (p.Asn4414Lys) c.12564C>G (p.Asn4188Lys) c.11025C>G (p.Asn3675Lys) c.13446C>G (p.Asn4482Lys) c.13428C>G (p.Asn4476Lys) c.13404C>G (p.Asn4468Lys) c.13332C>G (p.Asn4444Lys) c.13296C>G (p.Asn4432Lys) c.10149C>G (p.Asn3383Lys) c.9753C>G (p.Asn3251Lys) | |
7 | g.152148664G>T | CA370091779 | KMT2C | c.1451C>A n.2395C>A c.13434C>A (p.Asn4478Lys) n.2563C>A n.8455C>A c.3836C>A c.10773C>A (p.Asn3591Lys) n.4893C>A c.3908C>A n.2029C>A n.1979C>A c.1680C>A (p.Asn560Lys) c.8160C>A (p.Asn2720Lys) n.21C>A c.13263C>A (p.Asn4421Lys) c.9050C>A c.3905C>A c.3839C>A n.7974C>A c.8163C>A (p.Asn2721Lys) c.12828C>A (p.Asn4276Lys) c.3840C>A n.2278C>A c.5944C>A c.3114C>A (p.Asn1038Lys) n.11145C>A c.*10783C>A (n.*10783C>A) c.13479C>A (p.Asn4493Lys) c.13476C>A (p.Asn4492Lys) c.13314C>A (p.Asn4438Lys) c.13407C>A (p.Asn4469Lys) c.13311C>A (p.Asn4437Lys) c.13431C>A (p.Asn4477Lys) c.13359C>A (p.Asn4453Lys) c.13326C>A (p.Asn4442Lys) c.13242C>A (p.Asn4414Lys) c.12564C>A (p.Asn4188Lys) c.11025C>A (p.Asn3675Lys) c.13446C>A (p.Asn4482Lys) c.13428C>A (p.Asn4476Lys) c.13404C>A (p.Asn4468Lys) c.13332C>A (p.Asn4444Lys) c.13296C>A (p.Asn4432Lys) c.10149C>A (p.Asn3383Lys) c.9753C>A (p.Asn3251Lys) | |
7 | g.152148665T>A | CA370091781 | KMT2C | c.1450A>T n.2394A>T c.13433A>T (p.Asn4478Ile) n.2562A>T n.8454A>T c.3835A>T c.10772A>T (p.Asn3591Ile) n.4892A>T c.3907A>T n.2028A>T n.1978A>T c.1679A>T (p.Asn560Ile) c.8159A>T (p.Asn2720Ile) n.20A>T c.13262A>T (p.Asn4421Ile) c.9049A>T c.3904A>T c.3838A>T n.7973A>T c.8162A>T (p.Asn2721Ile) c.12827A>T (p.Asn4276Ile) c.3839A>T n.2277A>T c.5943A>T c.3113A>T (p.Asn1038Ile) n.11144A>T c.*10782A>T (n.*10782A>T) c.13478A>T (p.Asn4493Ile) c.13475A>T (p.Asn4492Ile) c.13313A>T (p.Asn4438Ile) c.13406A>T (p.Asn4469Ile) c.13310A>T (p.Asn4437Ile) c.13430A>T (p.Asn4477Ile) c.13358A>T (p.Asn4453Ile) c.13325A>T (p.Asn4442Ile) c.13241A>T (p.Asn4414Ile) c.12563A>T (p.Asn4188Ile) c.11024A>T (p.Asn3675Ile) c.13445A>T (p.Asn4482Ile) c.13427A>T (p.Asn4476Ile) c.13403A>T (p.Asn4468Ile) c.13331A>T (p.Asn4444Ile) c.13295A>T (p.Asn4432Ile) c.10148A>T (p.Asn3383Ile) c.9752A>T (p.Asn3251Ile) | |
7 | g.152148665T>C | CA169220762 | KMT2C | c.1450A>G n.2394A>G c.13433A>G (p.Asn4478Ser) n.2562A>G n.8454A>G c.3835A>G c.10772A>G (p.Asn3591Ser) n.4892A>G c.3907A>G n.2028A>G n.1978A>G c.1679A>G (p.Asn560Ser) c.8159A>G (p.Asn2720Ser) n.20A>G c.13262A>G (p.Asn4421Ser) c.9049A>G c.3904A>G c.3838A>G n.7973A>G c.8162A>G (p.Asn2721Ser) c.12827A>G (p.Asn4276Ser) c.3839A>G n.2277A>G c.5943A>G c.3113A>G (p.Asn1038Ser) n.11144A>G c.*10782A>G (n.*10782A>G) c.13478A>G (p.Asn4493Ser) c.13475A>G (p.Asn4492Ser) c.13313A>G (p.Asn4438Ser) c.13406A>G (p.Asn4469Ser) c.13310A>G (p.Asn4437Ser) c.13430A>G (p.Asn4477Ser) c.13358A>G (p.Asn4453Ser) c.13325A>G (p.Asn4442Ser) c.13241A>G (p.Asn4414Ser) c.12563A>G (p.Asn4188Ser) c.11024A>G (p.Asn3675Ser) c.13445A>G (p.Asn4482Ser) c.13427A>G (p.Asn4476Ser) c.13403A>G (p.Asn4468Ser) c.13331A>G (p.Asn4444Ser) c.13295A>G (p.Asn4432Ser) c.10148A>G (p.Asn3383Ser) c.9752A>G (p.Asn3251Ser) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.152148665T>G | CA370091783 | KMT2C | c.1450A>C n.2394A>C c.13433A>C (p.Asn4478Thr) n.2562A>C n.8454A>C c.3835A>C c.10772A>C (p.Asn3591Thr) n.4892A>C c.3907A>C n.2028A>C n.1978A>C c.1679A>C (p.Asn560Thr) c.8159A>C (p.Asn2720Thr) n.20A>C c.13262A>C (p.Asn4421Thr) c.9049A>C c.3904A>C c.3838A>C n.7973A>C c.8162A>C (p.Asn2721Thr) c.12827A>C (p.Asn4276Thr) c.3839A>C n.2277A>C c.5943A>C c.3113A>C (p.Asn1038Thr) n.11144A>C c.*10782A>C (n.*10782A>C) c.13478A>C (p.Asn4493Thr) c.13475A>C (p.Asn4492Thr) c.13313A>C (p.Asn4438Thr) c.13406A>C (p.Asn4469Thr) c.13310A>C (p.Asn4437Thr) c.13430A>C (p.Asn4477Thr) c.13358A>C (p.Asn4453Thr) c.13325A>C (p.Asn4442Thr) c.13241A>C (p.Asn4414Thr) c.12563A>C (p.Asn4188Thr) c.11024A>C (p.Asn3675Thr) c.13445A>C (p.Asn4482Thr) c.13427A>C (p.Asn4476Thr) c.13403A>C (p.Asn4468Thr) c.13331A>C (p.Asn4444Thr) c.13295A>C (p.Asn4432Thr) c.10148A>C (p.Asn3383Thr) c.9752A>C (p.Asn3251Thr) | |
7 | g.152148665T= | CA1752986118 | KMT2C | c.1450A= n.2394A= c.13433A= (p.Asn4478=) n.2562A= n.8454A= c.3835A= c.10772A= (p.Asn3591=) n.4892A= c.3907A= n.2028A= n.1978A= c.1679A= (p.Asn560=) c.8159A= (p.Asn2720=) n.20A= c.13262A= (p.Asn4421=) c.9049A= c.3904A= c.3838A= n.7973A= c.8162A= (p.Asn2721=) c.12827A= (p.Asn4276=) c.3839A= n.2277A= c.5943A= c.3113A= (p.Asn1038=) n.11144A= c.*10782A= (n.*10782A=) c.13478A= (p.Asn4493=) c.13475A= (p.Asn4492=) c.13313A= (p.Asn4438=) c.13406A= (p.Asn4469=) c.13310A= (p.Asn4437=) c.13430A= (p.Asn4477=) c.13358A= (p.Asn4453=) c.13325A= (p.Asn4442=) c.13241A= (p.Asn4414=) c.12563A= (p.Asn4188=) c.11024A= (p.Asn3675=) c.13445A= (p.Asn4482=) c.13427A= (p.Asn4476=) c.13403A= (p.Asn4468=) c.13331A= (p.Asn4444=) c.13295A= (p.Asn4432=) c.10148A= (p.Asn3383=) c.9752A= (p.Asn3251=) | |
7 | g.152148666T>A | CA370091786 | KMT2C | c.1449A>T n.2393A>T c.13432A>T (p.Asn4478Tyr) n.2561A>T n.8453A>T c.3834A>T c.10771A>T (p.Asn3591Tyr) n.4891A>T c.3906A>T n.2027A>T n.1977A>T c.1678A>T (p.Asn560Tyr) c.8158A>T (p.Asn2720Tyr) n.19A>T c.13261A>T (p.Asn4421Tyr) c.9048A>T c.3903A>T c.3837A>T n.7972A>T c.8161A>T (p.Asn2721Tyr) c.12826A>T (p.Asn4276Tyr) c.3838A>T n.2276A>T c.5942A>T c.3112A>T (p.Asn1038Tyr) n.11143A>T c.*10781A>T (n.*10781A>T) c.13477A>T (p.Asn4493Tyr) c.13474A>T (p.Asn4492Tyr) c.13312A>T (p.Asn4438Tyr) c.13405A>T (p.Asn4469Tyr) c.13309A>T (p.Asn4437Tyr) c.13429A>T (p.Asn4477Tyr) c.13357A>T (p.Asn4453Tyr) c.13324A>T (p.Asn4442Tyr) c.13240A>T (p.Asn4414Tyr) c.12562A>T (p.Asn4188Tyr) c.11023A>T (p.Asn3675Tyr) c.13444A>T (p.Asn4482Tyr) c.13426A>T (p.Asn4476Tyr) c.13402A>T (p.Asn4468Tyr) c.13330A>T (p.Asn4444Tyr) c.13294A>T (p.Asn4432Tyr) c.10147A>T (p.Asn3383Tyr) c.9751A>T (p.Asn3251Tyr) | |
7 | g.152148666T>C | CA370091790 | KMT2C | c.1449A>G n.2393A>G c.13432A>G (p.Asn4478Asp) n.2561A>G n.8453A>G c.3834A>G c.10771A>G (p.Asn3591Asp) n.4891A>G c.3906A>G n.2027A>G n.1977A>G c.1678A>G (p.Asn560Asp) c.8158A>G (p.Asn2720Asp) n.19A>G c.13261A>G (p.Asn4421Asp) c.9048A>G c.3903A>G c.3837A>G n.7972A>G c.8161A>G (p.Asn2721Asp) c.12826A>G (p.Asn4276Asp) c.3838A>G n.2276A>G c.5942A>G c.3112A>G (p.Asn1038Asp) n.11143A>G c.*10781A>G (n.*10781A>G) c.13477A>G (p.Asn4493Asp) c.13474A>G (p.Asn4492Asp) c.13312A>G (p.Asn4438Asp) c.13405A>G (p.Asn4469Asp) c.13309A>G (p.Asn4437Asp) c.13429A>G (p.Asn4477Asp) c.13357A>G (p.Asn4453Asp) c.13324A>G (p.Asn4442Asp) c.13240A>G (p.Asn4414Asp) c.12562A>G (p.Asn4188Asp) c.11023A>G (p.Asn3675Asp) c.13444A>G (p.Asn4482Asp) c.13426A>G (p.Asn4476Asp) c.13402A>G (p.Asn4468Asp) c.13330A>G (p.Asn4444Asp) c.13294A>G (p.Asn4432Asp) c.10147A>G (p.Asn3383Asp) c.9751A>G (p.Asn3251Asp) | |
7 | g.152148666T>G | CA370091792 | KMT2C | c.1449A>C n.2393A>C c.13432A>C (p.Asn4478His) n.2561A>C n.8453A>C c.3834A>C c.10771A>C (p.Asn3591His) n.4891A>C c.3906A>C n.2027A>C n.1977A>C c.1678A>C (p.Asn560His) c.8158A>C (p.Asn2720His) n.19A>C c.13261A>C (p.Asn4421His) c.9048A>C c.3903A>C c.3837A>C n.7972A>C c.8161A>C (p.Asn2721His) c.12826A>C (p.Asn4276His) c.3838A>C n.2276A>C c.5942A>C c.3112A>C (p.Asn1038His) n.11143A>C c.*10781A>C (n.*10781A>C) c.13477A>C (p.Asn4493His) c.13474A>C (p.Asn4492His) c.13312A>C (p.Asn4438His) c.13405A>C (p.Asn4469His) c.13309A>C (p.Asn4437His) c.13429A>C (p.Asn4477His) c.13357A>C (p.Asn4453His) c.13324A>C (p.Asn4442His) c.13240A>C (p.Asn4414His) c.12562A>C (p.Asn4188His) c.11023A>C (p.Asn3675His) c.13444A>C (p.Asn4482His) c.13426A>C (p.Asn4476His) c.13402A>C (p.Asn4468His) c.13330A>C (p.Asn4444His) c.13294A>C (p.Asn4432His) c.10147A>C (p.Asn3383His) c.9751A>C (p.Asn3251His) | |
7 | g.152148667G>A | CA458884927 | KMT2C | c.1448C>T n.2392C>T c.13431C>T (p.Leu4477=) n.2560C>T n.8452C>T c.3833C>T c.10770C>T (p.Leu3590=) n.4890C>T c.3905C>T n.2026C>T n.1976C>T c.1677C>T (p.Leu559=) c.8157C>T (p.Leu2719=) n.18C>T c.13260C>T (p.Leu4420=) c.9047C>T c.3902C>T c.3836C>T n.7971C>T c.8160C>T (p.Leu2720=) c.12825C>T (p.Leu4275=) c.3837C>T n.2275C>T c.5941C>T c.3111C>T (p.Leu1037=) n.11142C>T c.*10780C>T (n.*10780C>T) c.13476C>T (p.Leu4492=) c.13473C>T (p.Leu4491=) c.13311C>T (p.Leu4437=) c.13404C>T (p.Leu4468=) c.13308C>T (p.Leu4436=) c.13428C>T (p.Leu4476=) c.13356C>T (p.Leu4452=) c.13323C>T (p.Leu4441=) c.13239C>T (p.Leu4413=) c.12561C>T (p.Leu4187=) c.11022C>T (p.Leu3674=) c.13443C>T (p.Leu4481=) c.13425C>T (p.Leu4475=) c.13401C>T (p.Leu4467=) c.13329C>T (p.Leu4443=) c.13293C>T (p.Leu4431=) c.10146C>T (p.Leu3382=) c.9750C>T (p.Leu3250=) | gnomAD v4 |
7 | g.152148667G>C | CA458884928 | KMT2C | c.1448C>G n.2392C>G c.13431C>G (p.Leu4477=) n.2560C>G n.8452C>G c.3833C>G c.10770C>G (p.Leu3590=) n.4890C>G c.3905C>G n.2026C>G n.1976C>G c.1677C>G (p.Leu559=) c.8157C>G (p.Leu2719=) n.18C>G c.13260C>G (p.Leu4420=) c.9047C>G c.3902C>G c.3836C>G n.7971C>G c.8160C>G (p.Leu2720=) c.12825C>G (p.Leu4275=) c.3837C>G n.2275C>G c.5941C>G c.3111C>G (p.Leu1037=) n.11142C>G c.*10780C>G (n.*10780C>G) c.13476C>G (p.Leu4492=) c.13473C>G (p.Leu4491=) c.13311C>G (p.Leu4437=) c.13404C>G (p.Leu4468=) c.13308C>G (p.Leu4436=) c.13428C>G (p.Leu4476=) c.13356C>G (p.Leu4452=) c.13323C>G (p.Leu4441=) c.13239C>G (p.Leu4413=) c.12561C>G (p.Leu4187=) c.11022C>G (p.Leu3674=) c.13443C>G (p.Leu4481=) c.13425C>G (p.Leu4475=) c.13401C>G (p.Leu4467=) c.13329C>G (p.Leu4443=) c.13293C>G (p.Leu4431=) c.10146C>G (p.Leu3382=) c.9750C>G (p.Leu3250=) | |
7 | g.152148667G>T | CA458884929 | KMT2C | c.1448C>A n.2392C>A c.13431C>A (p.Leu4477=) n.2560C>A n.8452C>A c.3833C>A c.10770C>A (p.Leu3590=) n.4890C>A c.3905C>A n.2026C>A n.1976C>A c.1677C>A (p.Leu559=) c.8157C>A (p.Leu2719=) n.18C>A c.13260C>A (p.Leu4420=) c.9047C>A c.3902C>A c.3836C>A n.7971C>A c.8160C>A (p.Leu2720=) c.12825C>A (p.Leu4275=) c.3837C>A n.2275C>A c.5941C>A c.3111C>A (p.Leu1037=) n.11142C>A c.*10780C>A (n.*10780C>A) c.13476C>A (p.Leu4492=) c.13473C>A (p.Leu4491=) c.13311C>A (p.Leu4437=) c.13404C>A (p.Leu4468=) c.13308C>A (p.Leu4436=) c.13428C>A (p.Leu4476=) c.13356C>A (p.Leu4452=) c.13323C>A (p.Leu4441=) c.13239C>A (p.Leu4413=) c.12561C>A (p.Leu4187=) c.11022C>A (p.Leu3674=) c.13443C>A (p.Leu4481=) c.13425C>A (p.Leu4475=) c.13401C>A (p.Leu4467=) c.13329C>A (p.Leu4443=) c.13293C>A (p.Leu4431=) c.10146C>A (p.Leu3382=) c.9750C>A (p.Leu3250=) | |
7 | g.152148668A>C | CA370091794 | KMT2C | c.1447T>G n.2391T>G c.13430T>G (p.Leu4477Arg) n.2559T>G n.8451T>G c.3832T>G c.10769T>G (p.Leu3590Arg) n.4889T>G c.3904T>G n.2025T>G n.1975T>G c.1676T>G (p.Leu559Arg) c.8156T>G (p.Leu2719Arg) n.17T>G c.13259T>G (p.Leu4420Arg) c.9046T>G c.3901T>G c.3835T>G n.7970T>G c.8159T>G (p.Leu2720Arg) c.12824T>G (p.Leu4275Arg) c.3836T>G n.2274T>G c.5940T>G c.3110T>G (p.Leu1037Arg) n.11141T>G c.*10779T>G (n.*10779T>G) c.13475T>G (p.Leu4492Arg) c.13472T>G (p.Leu4491Arg) c.13310T>G (p.Leu4437Arg) c.13403T>G (p.Leu4468Arg) c.13307T>G (p.Leu4436Arg) c.13427T>G (p.Leu4476Arg) c.13355T>G (p.Leu4452Arg) c.13322T>G (p.Leu4441Arg) c.13238T>G (p.Leu4413Arg) c.12560T>G (p.Leu4187Arg) c.11021T>G (p.Leu3674Arg) c.13442T>G (p.Leu4481Arg) c.13424T>G (p.Leu4475Arg) c.13400T>G (p.Leu4467Arg) c.13328T>G (p.Leu4443Arg) c.13292T>G (p.Leu4431Arg) c.10145T>G (p.Leu3382Arg) c.9749T>G (p.Leu3250Arg) | COSMIC COSMIC |
7 | g.152148668A>G | CA370091796 | KMT2C | c.1447T>C n.2391T>C c.13430T>C (p.Leu4477Pro) n.2559T>C n.8451T>C c.3832T>C c.10769T>C (p.Leu3590Pro) n.4889T>C c.3904T>C n.2025T>C n.1975T>C c.1676T>C (p.Leu559Pro) c.8156T>C (p.Leu2719Pro) n.17T>C c.13259T>C (p.Leu4420Pro) c.9046T>C c.3901T>C c.3835T>C n.7970T>C c.8159T>C (p.Leu2720Pro) c.12824T>C (p.Leu4275Pro) c.3836T>C n.2274T>C c.5940T>C c.3110T>C (p.Leu1037Pro) n.11141T>C c.*10779T>C (n.*10779T>C) c.13475T>C (p.Leu4492Pro) c.13472T>C (p.Leu4491Pro) c.13310T>C (p.Leu4437Pro) c.13403T>C (p.Leu4468Pro) c.13307T>C (p.Leu4436Pro) c.13427T>C (p.Leu4476Pro) c.13355T>C (p.Leu4452Pro) c.13322T>C (p.Leu4441Pro) c.13238T>C (p.Leu4413Pro) c.12560T>C (p.Leu4187Pro) c.11021T>C (p.Leu3674Pro) c.13442T>C (p.Leu4481Pro) c.13424T>C (p.Leu4475Pro) c.13400T>C (p.Leu4467Pro) c.13328T>C (p.Leu4443Pro) c.13292T>C (p.Leu4431Pro) c.10145T>C (p.Leu3382Pro) c.9749T>C (p.Leu3250Pro) | |
7 | g.152148668A>T | CA370091798 | KMT2C | c.1447T>A n.2391T>A c.13430T>A (p.Leu4477His) n.2559T>A n.8451T>A c.3832T>A c.10769T>A (p.Leu3590His) n.4889T>A c.3904T>A n.2025T>A n.1975T>A c.1676T>A (p.Leu559His) c.8156T>A (p.Leu2719His) n.17T>A c.13259T>A (p.Leu4420His) c.9046T>A c.3901T>A c.3835T>A n.7970T>A c.8159T>A (p.Leu2720His) c.12824T>A (p.Leu4275His) c.3836T>A n.2274T>A c.5940T>A c.3110T>A (p.Leu1037His) n.11141T>A c.*10779T>A (n.*10779T>A) c.13475T>A (p.Leu4492His) c.13472T>A (p.Leu4491His) c.13310T>A (p.Leu4437His) c.13403T>A (p.Leu4468His) c.13307T>A (p.Leu4436His) c.13427T>A (p.Leu4476His) c.13355T>A (p.Leu4452His) c.13322T>A (p.Leu4441His) c.13238T>A (p.Leu4413His) c.12560T>A (p.Leu4187His) c.11021T>A (p.Leu3674His) c.13442T>A (p.Leu4481His) c.13424T>A (p.Leu4475His) c.13400T>A (p.Leu4467His) c.13328T>A (p.Leu4443His) c.13292T>A (p.Leu4431His) c.10145T>A (p.Leu3382His) c.9749T>A (p.Leu3250His) | |
7 | g.152148669G>A | CA370091801 | KMT2C | c.1446C>T n.2390C>T c.13429C>T (p.Leu4477Phe) n.2558C>T n.8450C>T c.3831C>T c.10768C>T (p.Leu3590Phe) n.4888C>T c.3903C>T n.2024C>T n.1974C>T c.1675C>T (p.Leu559Phe) c.8155C>T (p.Leu2719Phe) n.16C>T c.13258C>T (p.Leu4420Phe) c.9045C>T c.3900C>T c.3834C>T n.7969C>T c.8158C>T (p.Leu2720Phe) c.12823C>T (p.Leu4275Phe) c.3835C>T n.2273C>T c.5939C>T c.3109C>T (p.Leu1037Phe) n.11140C>T c.*10778C>T (n.*10778C>T) c.13474C>T (p.Leu4492Phe) c.13471C>T (p.Leu4491Phe) c.13309C>T (p.Leu4437Phe) c.13402C>T (p.Leu4468Phe) c.13306C>T (p.Leu4436Phe) c.13426C>T (p.Leu4476Phe) c.13354C>T (p.Leu4452Phe) c.13321C>T (p.Leu4441Phe) c.13237C>T (p.Leu4413Phe) c.12559C>T (p.Leu4187Phe) c.11020C>T (p.Leu3674Phe) c.13441C>T (p.Leu4481Phe) c.13423C>T (p.Leu4475Phe) c.13399C>T (p.Leu4467Phe) c.13327C>T (p.Leu4443Phe) c.13291C>T (p.Leu4431Phe) c.10144C>T (p.Leu3382Phe) c.9748C>T (p.Leu3250Phe) | dbSNP |
7 | g.152148669G>C | CA370091803 | KMT2C | c.1446C>G n.2390C>G c.13429C>G (p.Leu4477Val) n.2558C>G n.8450C>G c.3831C>G c.10768C>G (p.Leu3590Val) n.4888C>G c.3903C>G n.2024C>G n.1974C>G c.1675C>G (p.Leu559Val) c.8155C>G (p.Leu2719Val) n.16C>G c.13258C>G (p.Leu4420Val) c.9045C>G c.3900C>G c.3834C>G n.7969C>G c.8158C>G (p.Leu2720Val) c.12823C>G (p.Leu4275Val) c.3835C>G n.2273C>G c.5939C>G c.3109C>G (p.Leu1037Val) n.11140C>G c.*10778C>G (n.*10778C>G) c.13474C>G (p.Leu4492Val) c.13471C>G (p.Leu4491Val) c.13309C>G (p.Leu4437Val) c.13402C>G (p.Leu4468Val) c.13306C>G (p.Leu4436Val) c.13426C>G (p.Leu4476Val) c.13354C>G (p.Leu4452Val) c.13321C>G (p.Leu4441Val) c.13237C>G (p.Leu4413Val) c.12559C>G (p.Leu4187Val) c.11020C>G (p.Leu3674Val) c.13441C>G (p.Leu4481Val) c.13423C>G (p.Leu4475Val) c.13399C>G (p.Leu4467Val) c.13327C>G (p.Leu4443Val) c.13291C>G (p.Leu4431Val) c.10144C>G (p.Leu3382Val) c.9748C>G (p.Leu3250Val) | |
7 | g.152148669G>T | CA370091799 | KMT2C | c.1446C>A n.2390C>A c.13429C>A (p.Leu4477Ile) n.2558C>A n.8450C>A c.3831C>A c.10768C>A (p.Leu3590Ile) n.4888C>A c.3903C>A n.2024C>A n.1974C>A c.1675C>A (p.Leu559Ile) c.8155C>A (p.Leu2719Ile) n.16C>A c.13258C>A (p.Leu4420Ile) c.9045C>A c.3900C>A c.3834C>A n.7969C>A c.8158C>A (p.Leu2720Ile) c.12823C>A (p.Leu4275Ile) c.3835C>A n.2273C>A c.5939C>A c.3109C>A (p.Leu1037Ile) n.11140C>A c.*10778C>A (n.*10778C>A) c.13474C>A (p.Leu4492Ile) c.13471C>A (p.Leu4491Ile) c.13309C>A (p.Leu4437Ile) c.13402C>A (p.Leu4468Ile) c.13306C>A (p.Leu4436Ile) c.13426C>A (p.Leu4476Ile) c.13354C>A (p.Leu4452Ile) c.13321C>A (p.Leu4441Ile) c.13237C>A (p.Leu4413Ile) c.12559C>A (p.Leu4187Ile) c.11020C>A (p.Leu3674Ile) c.13441C>A (p.Leu4481Ile) c.13423C>A (p.Leu4475Ile) c.13399C>A (p.Leu4467Ile) c.13327C>A (p.Leu4443Ile) c.13291C>A (p.Leu4431Ile) c.10144C>A (p.Leu3382Ile) c.9748C>A (p.Leu3250Ile) | |
7 | g.152148670T>A | CA458884933 | KMT2C | c.1445A>T n.2389A>T c.13428A>T (p.Leu4476=) n.2557A>T n.8449A>T c.3830A>T c.10767A>T (p.Leu3589=) n.4887A>T c.3902A>T n.2023A>T n.1973A>T c.1674A>T (p.Leu558=) c.8154A>T (p.Leu2718=) n.15A>T c.13257A>T (p.Leu4419=) c.9044A>T c.3899A>T c.3833A>T n.7968A>T c.8157A>T (p.Leu2719=) c.12822A>T (p.Leu4274=) c.3834A>T n.2272A>T c.5938A>T c.3108A>T (p.Leu1036=) n.11139A>T c.*10777A>T (n.*10777A>T) c.13473A>T (p.Leu4491=) c.13470A>T (p.Leu4490=) c.13308A>T (p.Leu4436=) c.13401A>T (p.Leu4467=) c.13305A>T (p.Leu4435=) c.13425A>T (p.Leu4475=) c.13353A>T (p.Leu4451=) c.13320A>T (p.Leu4440=) c.13236A>T (p.Leu4412=) c.12558A>T (p.Leu4186=) c.11019A>T (p.Leu3673=) c.13440A>T (p.Leu4480=) c.13422A>T (p.Leu4474=) c.13398A>T (p.Leu4466=) c.13326A>T (p.Leu4442=) c.13290A>T (p.Leu4430=) c.10143A>T (p.Leu3381=) c.9747A>T (p.Leu3249=) | |
7 | g.152148670T>C | CA4578649 | KMT2C | c.1445A>G n.2389A>G c.13428A>G (p.Leu4476=) n.2557A>G n.8449A>G c.3830A>G c.10767A>G (p.Leu3589=) n.4887A>G c.3902A>G n.2023A>G n.1973A>G c.1674A>G (p.Leu558=) c.8154A>G (p.Leu2718=) n.15A>G c.13257A>G (p.Leu4419=) c.9044A>G c.3899A>G c.3833A>G n.7968A>G c.8157A>G (p.Leu2719=) c.12822A>G (p.Leu4274=) c.3834A>G n.2272A>G c.5938A>G c.3108A>G (p.Leu1036=) n.11139A>G c.*10777A>G (n.*10777A>G) c.13473A>G (p.Leu4491=) c.13470A>G (p.Leu4490=) c.13308A>G (p.Leu4436=) c.13401A>G (p.Leu4467=) c.13305A>G (p.Leu4435=) c.13425A>G (p.Leu4475=) c.13353A>G (p.Leu4451=) c.13320A>G (p.Leu4440=) c.13236A>G (p.Leu4412=) c.12558A>G (p.Leu4186=) c.11019A>G (p.Leu3673=) c.13440A>G (p.Leu4480=) c.13422A>G (p.Leu4474=) c.13398A>G (p.Leu4466=) c.13326A>G (p.Leu4442=) c.13290A>G (p.Leu4430=) c.10143A>G (p.Leu3381=) c.9747A>G (p.Leu3249=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.152148670T>G | CA458884935 | KMT2C | c.1445A>C n.2389A>C c.13428A>C (p.Leu4476=) n.2557A>C n.8449A>C c.3830A>C c.10767A>C (p.Leu3589=) n.4887A>C c.3902A>C n.2023A>C n.1973A>C c.1674A>C (p.Leu558=) c.8154A>C (p.Leu2718=) n.15A>C c.13257A>C (p.Leu4419=) c.9044A>C c.3899A>C c.3833A>C n.7968A>C c.8157A>C (p.Leu2719=) c.12822A>C (p.Leu4274=) c.3834A>C n.2272A>C c.5938A>C c.3108A>C (p.Leu1036=) n.11139A>C c.*10777A>C (n.*10777A>C) c.13473A>C (p.Leu4491=) c.13470A>C (p.Leu4490=) c.13308A>C (p.Leu4436=) c.13401A>C (p.Leu4467=) c.13305A>C (p.Leu4435=) c.13425A>C (p.Leu4475=) c.13353A>C (p.Leu4451=) c.13320A>C (p.Leu4440=) c.13236A>C (p.Leu4412=) c.12558A>C (p.Leu4186=) c.11019A>C (p.Leu3673=) c.13440A>C (p.Leu4480=) c.13422A>C (p.Leu4474=) c.13398A>C (p.Leu4466=) c.13326A>C (p.Leu4442=) c.13290A>C (p.Leu4430=) c.10143A>C (p.Leu3381=) c.9747A>C (p.Leu3249=) | dbSNP |
7 | g.152148670T= | CA1752986128 | KMT2C | c.1445A= n.2389A= c.13428A= (p.Leu4476=) n.2557A= n.8449A= c.3830A= c.10767A= (p.Leu3589=) n.4887A= c.3902A= n.2023A= n.1973A= c.1674A= (p.Leu558=) c.8154A= (p.Leu2718=) n.15A= c.13257A= (p.Leu4419=) c.9044A= c.3899A= c.3833A= n.7968A= c.8157A= (p.Leu2719=) c.12822A= (p.Leu4274=) c.3834A= n.2272A= c.5938A= c.3108A= (p.Leu1036=) n.11139A= c.*10777A= (n.*10777A=) c.13473A= (p.Leu4491=) c.13470A= (p.Leu4490=) c.13308A= (p.Leu4436=) c.13401A= (p.Leu4467=) c.13305A= (p.Leu4435=) c.13425A= (p.Leu4475=) c.13353A= (p.Leu4451=) c.13320A= (p.Leu4440=) c.13236A= (p.Leu4412=) c.12558A= (p.Leu4186=) c.11019A= (p.Leu3673=) c.13440A= (p.Leu4480=) c.13422A= (p.Leu4474=) c.13398A= (p.Leu4466=) c.13326A= (p.Leu4442=) c.13290A= (p.Leu4430=) c.10143A= (p.Leu3381=) c.9747A= (p.Leu3249=) | |
7 | g.152148671A>C | CA370091805 | KMT2C | c.1444T>G n.2388T>G c.13427T>G (p.Leu4476Arg) n.2556T>G n.8448T>G c.3829T>G c.10766T>G (p.Leu3589Arg) n.4886T>G c.3901T>G n.2022T>G n.1972T>G c.1673T>G (p.Leu558Arg) c.8153T>G (p.Leu2718Arg) n.14T>G c.13256T>G (p.Leu4419Arg) c.9043T>G c.3898T>G c.3832T>G n.7967T>G c.8156T>G (p.Leu2719Arg) c.12821T>G (p.Leu4274Arg) c.3833T>G n.2271T>G c.5937T>G c.3107T>G (p.Leu1036Arg) n.11138T>G c.*10776T>G (n.*10776T>G) c.13472T>G (p.Leu4491Arg) c.13469T>G (p.Leu4490Arg) c.13307T>G (p.Leu4436Arg) c.13400T>G (p.Leu4467Arg) c.13304T>G (p.Leu4435Arg) c.13424T>G (p.Leu4475Arg) c.13352T>G (p.Leu4451Arg) c.13319T>G (p.Leu4440Arg) c.13235T>G (p.Leu4412Arg) c.12557T>G (p.Leu4186Arg) c.11018T>G (p.Leu3673Arg) c.13439T>G (p.Leu4480Arg) c.13421T>G (p.Leu4474Arg) c.13397T>G (p.Leu4466Arg) c.13325T>G (p.Leu4442Arg) c.13289T>G (p.Leu4430Arg) c.10142T>G (p.Leu3381Arg) c.9746T>G (p.Leu3249Arg) | |
7 | g.152148671A>G | CA370091806 | KMT2C | c.1444T>C n.2388T>C c.13427T>C (p.Leu4476Pro) n.2556T>C n.8448T>C c.3829T>C c.10766T>C (p.Leu3589Pro) n.4886T>C c.3901T>C n.2022T>C n.1972T>C c.1673T>C (p.Leu558Pro) c.8153T>C (p.Leu2718Pro) n.14T>C c.13256T>C (p.Leu4419Pro) c.9043T>C c.3898T>C c.3832T>C n.7967T>C c.8156T>C (p.Leu2719Pro) c.12821T>C (p.Leu4274Pro) c.3833T>C n.2271T>C c.5937T>C c.3107T>C (p.Leu1036Pro) n.11138T>C c.*10776T>C (n.*10776T>C) c.13472T>C (p.Leu4491Pro) c.13469T>C (p.Leu4490Pro) c.13307T>C (p.Leu4436Pro) c.13400T>C (p.Leu4467Pro) c.13304T>C (p.Leu4435Pro) c.13424T>C (p.Leu4475Pro) c.13352T>C (p.Leu4451Pro) c.13319T>C (p.Leu4440Pro) c.13235T>C (p.Leu4412Pro) c.12557T>C (p.Leu4186Pro) c.11018T>C (p.Leu3673Pro) c.13439T>C (p.Leu4480Pro) c.13421T>C (p.Leu4474Pro) c.13397T>C (p.Leu4466Pro) c.13325T>C (p.Leu4442Pro) c.13289T>C (p.Leu4430Pro) c.10142T>C (p.Leu3381Pro) c.9746T>C (p.Leu3249Pro) | |
7 | g.152148671A>T | CA370091808 | KMT2C | c.1444T>A n.2388T>A c.13427T>A (p.Leu4476Gln) n.2556T>A n.8448T>A c.3829T>A c.10766T>A (p.Leu3589Gln) n.4886T>A c.3901T>A n.2022T>A n.1972T>A c.1673T>A (p.Leu558Gln) c.8153T>A (p.Leu2718Gln) n.14T>A c.13256T>A (p.Leu4419Gln) c.9043T>A c.3898T>A c.3832T>A n.7967T>A c.8156T>A (p.Leu2719Gln) c.12821T>A (p.Leu4274Gln) c.3833T>A n.2271T>A c.5937T>A c.3107T>A (p.Leu1036Gln) n.11138T>A c.*10776T>A (n.*10776T>A) c.13472T>A (p.Leu4491Gln) c.13469T>A (p.Leu4490Gln) c.13307T>A (p.Leu4436Gln) c.13400T>A (p.Leu4467Gln) c.13304T>A (p.Leu4435Gln) c.13424T>A (p.Leu4475Gln) c.13352T>A (p.Leu4451Gln) c.13319T>A (p.Leu4440Gln) c.13235T>A (p.Leu4412Gln) c.12557T>A (p.Leu4186Gln) c.11018T>A (p.Leu3673Gln) c.13439T>A (p.Leu4480Gln) c.13421T>A (p.Leu4474Gln) c.13397T>A (p.Leu4466Gln) c.13325T>A (p.Leu4442Gln) c.13289T>A (p.Leu4430Gln) c.10142T>A (p.Leu3381Gln) c.9746T>A (p.Leu3249Gln) | |
7 | g.152148672G>A | CA4578650 | KMT2C | c.1443C>T n.2387C>T c.13426C>T (p.Leu4476=) n.2555C>T n.8447C>T c.3828C>T c.10765C>T (p.Leu3589=) n.4885C>T c.3900C>T n.2021C>T n.1971C>T c.1672C>T (p.Leu558=) c.8152C>T (p.Leu2718=) n.13C>T c.13255C>T (p.Leu4419=) c.9042C>T c.3897C>T c.3831C>T n.7966C>T c.8155C>T (p.Leu2719=) c.12820C>T (p.Leu4274=) c.3832C>T n.2270C>T c.5936C>T c.3106C>T (p.Leu1036=) n.11137C>T c.*10775C>T (n.*10775C>T) c.13471C>T (p.Leu4491=) c.13468C>T (p.Leu4490=) c.13306C>T (p.Leu4436=) c.13399C>T (p.Leu4467=) c.13303C>T (p.Leu4435=) c.13423C>T (p.Leu4475=) c.13351C>T (p.Leu4451=) c.13318C>T (p.Leu4440=) c.13234C>T (p.Leu4412=) c.12556C>T (p.Leu4186=) c.11017C>T (p.Leu3673=) c.13438C>T (p.Leu4480=) c.13420C>T (p.Leu4474=) c.13396C>T (p.Leu4466=) c.13324C>T (p.Leu4442=) c.13288C>T (p.Leu4430=) c.10141C>T (p.Leu3381=) c.9745C>T (p.Leu3249=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.152148672G>C | CA370091811 | KMT2C | c.1443C>G n.2387C>G c.13426C>G (p.Leu4476Val) n.2555C>G n.8447C>G c.3828C>G c.10765C>G (p.Leu3589Val) n.4885C>G c.3900C>G n.2021C>G n.1971C>G c.1672C>G (p.Leu558Val) c.8152C>G (p.Leu2718Val) n.13C>G c.13255C>G (p.Leu4419Val) c.9042C>G c.3897C>G c.3831C>G n.7966C>G c.8155C>G (p.Leu2719Val) c.12820C>G (p.Leu4274Val) c.3832C>G n.2270C>G c.5936C>G c.3106C>G (p.Leu1036Val) n.11137C>G c.*10775C>G (n.*10775C>G) c.13471C>G (p.Leu4491Val) c.13468C>G (p.Leu4490Val) c.13306C>G (p.Leu4436Val) c.13399C>G (p.Leu4467Val) c.13303C>G (p.Leu4435Val) c.13423C>G (p.Leu4475Val) c.13351C>G (p.Leu4451Val) c.13318C>G (p.Leu4440Val) c.13234C>G (p.Leu4412Val) c.12556C>G (p.Leu4186Val) c.11017C>G (p.Leu3673Val) c.13438C>G (p.Leu4480Val) c.13420C>G (p.Leu4474Val) c.13396C>G (p.Leu4466Val) c.13324C>G (p.Leu4442Val) c.13288C>G (p.Leu4430Val) c.10141C>G (p.Leu3381Val) c.9745C>G (p.Leu3249Val) | |
7 | g.152148672G= | CA1752986133 | KMT2C | c.1443C= n.2387C= c.13426C= (p.Leu4476=) n.2555C= n.8447C= c.3828C= c.10765C= (p.Leu3589=) n.4885C= c.3900C= n.2021C= n.1971C= c.1672C= (p.Leu558=) c.8152C= (p.Leu2718=) n.13C= c.13255C= (p.Leu4419=) c.9042C= c.3897C= c.3831C= n.7966C= c.8155C= (p.Leu2719=) c.12820C= (p.Leu4274=) c.3832C= n.2270C= c.5936C= c.3106C= (p.Leu1036=) n.11137C= c.*10775C= (n.*10775C=) c.13471C= (p.Leu4491=) c.13468C= (p.Leu4490=) c.13306C= (p.Leu4436=) c.13399C= (p.Leu4467=) c.13303C= (p.Leu4435=) c.13423C= (p.Leu4475=) c.13351C= (p.Leu4451=) c.13318C= (p.Leu4440=) c.13234C= (p.Leu4412=) c.12556C= (p.Leu4186=) c.11017C= (p.Leu3673=) c.13438C= (p.Leu4480=) c.13420C= (p.Leu4474=) c.13396C= (p.Leu4466=) c.13324C= (p.Leu4442=) c.13288C= (p.Leu4430=) c.10141C= (p.Leu3381=) c.9745C= (p.Leu3249=) | |
7 | g.152148672G>T | CA370091813 | KMT2C | c.1443C>A n.2387C>A c.13426C>A (p.Leu4476Ile) n.2555C>A n.8447C>A c.3828C>A c.10765C>A (p.Leu3589Ile) n.4885C>A c.3900C>A n.2021C>A n.1971C>A c.1672C>A (p.Leu558Ile) c.8152C>A (p.Leu2718Ile) n.13C>A c.13255C>A (p.Leu4419Ile) c.9042C>A c.3897C>A c.3831C>A n.7966C>A c.8155C>A (p.Leu2719Ile) c.12820C>A (p.Leu4274Ile) c.3832C>A n.2270C>A c.5936C>A c.3106C>A (p.Leu1036Ile) n.11137C>A c.*10775C>A (n.*10775C>A) c.13471C>A (p.Leu4491Ile) c.13468C>A (p.Leu4490Ile) c.13306C>A (p.Leu4436Ile) c.13399C>A (p.Leu4467Ile) c.13303C>A (p.Leu4435Ile) c.13423C>A (p.Leu4475Ile) c.13351C>A (p.Leu4451Ile) c.13318C>A (p.Leu4440Ile) c.13234C>A (p.Leu4412Ile) c.12556C>A (p.Leu4186Ile) c.11017C>A (p.Leu3673Ile) c.13438C>A (p.Leu4480Ile) c.13420C>A (p.Leu4474Ile) c.13396C>A (p.Leu4466Ile) c.13324C>A (p.Leu4442Ile) c.13288C>A (p.Leu4430Ile) c.10141C>A (p.Leu3381Ile) c.9745C>A (p.Leu3249Ile) | |
7 | g.152148673C>A | CA370091815 | KMT2C | c.1442G>T n.2386G>T c.13425G>T (p.Arg4475Ser) n.2554G>T n.8446G>T c.3827G>T c.10764G>T (p.Arg3588Ser) n.4884G>T c.3899G>T n.2020G>T n.1970G>T c.1671G>T (p.Arg557Ser) c.8151G>T (p.Arg2717Ser) n.12G>T c.13254G>T (p.Arg4418Ser) c.9041G>T c.3896G>T c.3830G>T n.7965G>T c.8154G>T (p.Arg2718Ser) c.12819G>T (p.Arg4273Ser) c.3831G>T n.2269G>T c.5935G>T c.3105G>T (p.Arg1035Ser) n.11136G>T c.*10774G>T (n.*10774G>T) c.13470G>T (p.Arg4490Ser) c.13467G>T (p.Arg4489Ser) c.13305G>T (p.Arg4435Ser) c.13398G>T (p.Arg4466Ser) c.13302G>T (p.Arg4434Ser) c.13422G>T (p.Arg4474Ser) c.13350G>T (p.Arg4450Ser) c.13317G>T (p.Arg4439Ser) c.13233G>T (p.Arg4411Ser) c.12555G>T (p.Arg4185Ser) c.11016G>T (p.Arg3672Ser) c.13437G>T (p.Arg4479Ser) c.13419G>T (p.Arg4473Ser) c.13395G>T (p.Arg4465Ser) c.13323G>T (p.Arg4441Ser) c.13287G>T (p.Arg4429Ser) c.10140G>T (p.Arg3380Ser) c.9744G>T (p.Arg3248Ser) | COSMIC COSMIC |
7 | g.152148673C= | CA1752986139 | KMT2C | c.1442G= n.2386G= c.13425G= (p.Arg4475=) n.2554G= n.8446G= c.3827G= c.10764G= (p.Arg3588=) n.4884G= c.3899G= n.2020G= n.1970G= c.1671G= (p.Arg557=) c.8151G= (p.Arg2717=) n.12G= c.13254G= (p.Arg4418=) c.9041G= c.3896G= c.3830G= n.7965G= c.8154G= (p.Arg2718=) c.12819G= (p.Arg4273=) c.3831G= n.2269G= c.5935G= c.3105G= (p.Arg1035=) n.11136G= c.*10774G= (n.*10774G=) c.13470G= (p.Arg4490=) c.13467G= (p.Arg4489=) c.13305G= (p.Arg4435=) c.13398G= (p.Arg4466=) c.13302G= (p.Arg4434=) c.13422G= (p.Arg4474=) c.13350G= (p.Arg4450=) c.13317G= (p.Arg4439=) c.13233G= (p.Arg4411=) c.12555G= (p.Arg4185=) c.11016G= (p.Arg3672=) c.13437G= (p.Arg4479=) c.13419G= (p.Arg4473=) c.13395G= (p.Arg4465=) c.13323G= (p.Arg4441=) c.13287G= (p.Arg4429=) c.10140G= (p.Arg3380=) c.9744G= (p.Arg3248=) | |
7 | g.152148673C>G | CA370091817 | KMT2C | c.1442G>C n.2386G>C c.13425G>C (p.Arg4475Ser) n.2554G>C n.8446G>C c.3827G>C c.10764G>C (p.Arg3588Ser) n.4884G>C c.3899G>C n.2020G>C n.1970G>C c.1671G>C (p.Arg557Ser) c.8151G>C (p.Arg2717Ser) n.12G>C c.13254G>C (p.Arg4418Ser) c.9041G>C c.3896G>C c.3830G>C n.7965G>C c.8154G>C (p.Arg2718Ser) c.12819G>C (p.Arg4273Ser) c.3831G>C n.2269G>C c.5935G>C c.3105G>C (p.Arg1035Ser) n.11136G>C c.*10774G>C (n.*10774G>C) c.13470G>C (p.Arg4490Ser) c.13467G>C (p.Arg4489Ser) c.13305G>C (p.Arg4435Ser) c.13398G>C (p.Arg4466Ser) c.13302G>C (p.Arg4434Ser) c.13422G>C (p.Arg4474Ser) c.13350G>C (p.Arg4450Ser) c.13317G>C (p.Arg4439Ser) c.13233G>C (p.Arg4411Ser) c.12555G>C (p.Arg4185Ser) c.11016G>C (p.Arg3672Ser) c.13437G>C (p.Arg4479Ser) c.13419G>C (p.Arg4473Ser) c.13395G>C (p.Arg4465Ser) c.13323G>C (p.Arg4441Ser) c.13287G>C (p.Arg4429Ser) c.10140G>C (p.Arg3380Ser) c.9744G>C (p.Arg3248Ser) | |
7 | g.152148673C>T | CA458884944 | KMT2C | c.1442G>A n.2386G>A c.13425G>A (p.Arg4475=) n.2554G>A n.8446G>A c.3827G>A c.10764G>A (p.Arg3588=) n.4884G>A c.3899G>A n.2020G>A n.1970G>A c.1671G>A (p.Arg557=) c.8151G>A (p.Arg2717=) n.12G>A c.13254G>A (p.Arg4418=) c.9041G>A c.3896G>A c.3830G>A n.7965G>A c.8154G>A (p.Arg2718=) c.12819G>A (p.Arg4273=) c.3831G>A n.2269G>A c.5935G>A c.3105G>A (p.Arg1035=) n.11136G>A c.*10774G>A (n.*10774G>A) c.13470G>A (p.Arg4490=) c.13467G>A (p.Arg4489=) c.13305G>A (p.Arg4435=) c.13398G>A (p.Arg4466=) c.13302G>A (p.Arg4434=) c.13422G>A (p.Arg4474=) c.13350G>A (p.Arg4450=) c.13317G>A (p.Arg4439=) c.13233G>A (p.Arg4411=) c.12555G>A (p.Arg4185=) c.11016G>A (p.Arg3672=) c.13437G>A (p.Arg4479=) c.13419G>A (p.Arg4473=) c.13395G>A (p.Arg4465=) c.13323G>A (p.Arg4441=) c.13287G>A (p.Arg4429=) c.10140G>A (p.Arg3380=) c.9744G>A (p.Arg3248=) | dbSNP gnomAD v4 |
7 | g.152148674C>A | CA370091819 | KMT2C | c.1441G>T n.2385G>T c.13424G>T (p.Arg4475Met) n.2553G>T n.8445G>T c.3826G>T c.10763G>T (p.Arg3588Met) n.4883G>T c.3898G>T n.2019G>T n.1969G>T c.1670G>T (p.Arg557Met) c.8150G>T (p.Arg2717Met) n.11G>T c.13253G>T (p.Arg4418Met) c.9040G>T c.3895G>T c.3829G>T n.7964G>T c.8153G>T (p.Arg2718Met) c.12818G>T (p.Arg4273Met) c.3830G>T n.2268G>T c.5934G>T c.3104G>T (p.Arg1035Met) n.11135G>T c.*10773G>T (n.*10773G>T) c.13469G>T (p.Arg4490Met) c.13466G>T (p.Arg4489Met) c.13304G>T (p.Arg4435Met) c.13397G>T (p.Arg4466Met) c.13301G>T (p.Arg4434Met) c.13421G>T (p.Arg4474Met) c.13349G>T (p.Arg4450Met) c.13316G>T (p.Arg4439Met) c.13232G>T (p.Arg4411Met) c.12554G>T (p.Arg4185Met) c.11015G>T (p.Arg3672Met) c.13436G>T (p.Arg4479Met) c.13418G>T (p.Arg4473Met) c.13394G>T (p.Arg4465Met) c.13322G>T (p.Arg4441Met) c.13286G>T (p.Arg4429Met) c.10139G>T (p.Arg3380Met) c.9743G>T (p.Arg3248Met) | |
7 | g.152148674C>G | CA370091820 | KMT2C | c.1441G>C n.2385G>C c.13424G>C (p.Arg4475Thr) n.2553G>C n.8445G>C c.3826G>C c.10763G>C (p.Arg3588Thr) n.4883G>C c.3898G>C n.2019G>C n.1969G>C c.1670G>C (p.Arg557Thr) c.8150G>C (p.Arg2717Thr) n.11G>C c.13253G>C (p.Arg4418Thr) c.9040G>C c.3895G>C c.3829G>C n.7964G>C c.8153G>C (p.Arg2718Thr) c.12818G>C (p.Arg4273Thr) c.3830G>C n.2268G>C c.5934G>C c.3104G>C (p.Arg1035Thr) n.11135G>C c.*10773G>C (n.*10773G>C) c.13469G>C (p.Arg4490Thr) c.13466G>C (p.Arg4489Thr) c.13304G>C (p.Arg4435Thr) c.13397G>C (p.Arg4466Thr) c.13301G>C (p.Arg4434Thr) c.13421G>C (p.Arg4474Thr) c.13349G>C (p.Arg4450Thr) c.13316G>C (p.Arg4439Thr) c.13232G>C (p.Arg4411Thr) c.12554G>C (p.Arg4185Thr) c.11015G>C (p.Arg3672Thr) c.13436G>C (p.Arg4479Thr) c.13418G>C (p.Arg4473Thr) c.13394G>C (p.Arg4465Thr) c.13322G>C (p.Arg4441Thr) c.13286G>C (p.Arg4429Thr) c.10139G>C (p.Arg3380Thr) c.9743G>C (p.Arg3248Thr) | |
7 | g.152148674C>T | CA370091822 | KMT2C | c.1441G>A n.2385G>A c.13424G>A (p.Arg4475Lys) n.2553G>A n.8445G>A c.3826G>A c.10763G>A (p.Arg3588Lys) n.4883G>A c.3898G>A n.2019G>A n.1969G>A c.1670G>A (p.Arg557Lys) c.8150G>A (p.Arg2717Lys) n.11G>A c.13253G>A (p.Arg4418Lys) c.9040G>A c.3895G>A c.3829G>A n.7964G>A c.8153G>A (p.Arg2718Lys) c.12818G>A (p.Arg4273Lys) c.3830G>A n.2268G>A c.5934G>A c.3104G>A (p.Arg1035Lys) n.11135G>A c.*10773G>A (n.*10773G>A) c.13469G>A (p.Arg4490Lys) c.13466G>A (p.Arg4489Lys) c.13304G>A (p.Arg4435Lys) c.13397G>A (p.Arg4466Lys) c.13301G>A (p.Arg4434Lys) c.13421G>A (p.Arg4474Lys) c.13349G>A (p.Arg4450Lys) c.13316G>A (p.Arg4439Lys) c.13232G>A (p.Arg4411Lys) c.12554G>A (p.Arg4185Lys) c.11015G>A (p.Arg3672Lys) c.13436G>A (p.Arg4479Lys) c.13418G>A (p.Arg4473Lys) c.13394G>A (p.Arg4465Lys) c.13322G>A (p.Arg4441Lys) c.13286G>A (p.Arg4429Lys) c.10139G>A (p.Arg3380Lys) c.9743G>A (p.Arg3248Lys) | |
7 | g.152148675T>A | CA370091824 | KMT2C | c.1440A>T n.2384A>T c.13423A>T (p.Arg4475Trp) n.2552A>T n.8444A>T c.3825A>T c.10762A>T (p.Arg3588Trp) n.4882A>T c.3897A>T n.2018A>T n.1968A>T c.1669A>T (p.Arg557Trp) c.8149A>T (p.Arg2717Trp) n.10A>T c.13252A>T (p.Arg4418Trp) c.9039A>T c.3894A>T c.3828A>T n.7963A>T c.8152A>T (p.Arg2718Trp) c.12817A>T (p.Arg4273Trp) c.3829A>T n.2267A>T c.5933A>T c.3103A>T (p.Arg1035Trp) n.11134A>T c.*10772A>T (n.*10772A>T) c.13468A>T (p.Arg4490Trp) c.13465A>T (p.Arg4489Trp) c.13303A>T (p.Arg4435Trp) c.13396A>T (p.Arg4466Trp) c.13300A>T (p.Arg4434Trp) c.13420A>T (p.Arg4474Trp) c.13348A>T (p.Arg4450Trp) c.13315A>T (p.Arg4439Trp) c.13231A>T (p.Arg4411Trp) c.12553A>T (p.Arg4185Trp) c.11014A>T (p.Arg3672Trp) c.13435A>T (p.Arg4479Trp) c.13417A>T (p.Arg4473Trp) c.13393A>T (p.Arg4465Trp) c.13321A>T (p.Arg4441Trp) c.13285A>T (p.Arg4429Trp) c.10138A>T (p.Arg3380Trp) c.9742A>T (p.Arg3248Trp) | |
7 | g.152148675T>C | CA370091826 | KMT2C | c.1440A>G n.2384A>G c.13423A>G (p.Arg4475Gly) n.2552A>G n.8444A>G c.3825A>G c.10762A>G (p.Arg3588Gly) n.4882A>G c.3897A>G n.2018A>G n.1968A>G c.1669A>G (p.Arg557Gly) c.8149A>G (p.Arg2717Gly) n.10A>G c.13252A>G (p.Arg4418Gly) c.9039A>G c.3894A>G c.3828A>G n.7963A>G c.8152A>G (p.Arg2718Gly) c.12817A>G (p.Arg4273Gly) c.3829A>G n.2267A>G c.5933A>G c.3103A>G (p.Arg1035Gly) n.11134A>G c.*10772A>G (n.*10772A>G) c.13468A>G (p.Arg4490Gly) c.13465A>G (p.Arg4489Gly) c.13303A>G (p.Arg4435Gly) c.13396A>G (p.Arg4466Gly) c.13300A>G (p.Arg4434Gly) c.13420A>G (p.Arg4474Gly) c.13348A>G (p.Arg4450Gly) c.13315A>G (p.Arg4439Gly) c.13231A>G (p.Arg4411Gly) c.12553A>G (p.Arg4185Gly) c.11014A>G (p.Arg3672Gly) c.13435A>G (p.Arg4479Gly) c.13417A>G (p.Arg4473Gly) c.13393A>G (p.Arg4465Gly) c.13321A>G (p.Arg4441Gly) c.13285A>G (p.Arg4429Gly) c.10138A>G (p.Arg3380Gly) c.9742A>G (p.Arg3248Gly) | COSMIC COSMIC |
7 | g.152148675T>G | CA458884945 | KMT2C | c.1440A>C n.2384A>C c.13423A>C (p.Arg4475=) n.2552A>C n.8444A>C c.3825A>C c.10762A>C (p.Arg3588=) n.4882A>C c.3897A>C n.2018A>C n.1968A>C c.1669A>C (p.Arg557=) c.8149A>C (p.Arg2717=) n.10A>C c.13252A>C (p.Arg4418=) c.9039A>C c.3894A>C c.3828A>C n.7963A>C c.8152A>C (p.Arg2718=) c.12817A>C (p.Arg4273=) c.3829A>C n.2267A>C c.5933A>C c.3103A>C (p.Arg1035=) n.11134A>C c.*10772A>C (n.*10772A>C) c.13468A>C (p.Arg4490=) c.13465A>C (p.Arg4489=) c.13303A>C (p.Arg4435=) c.13396A>C (p.Arg4466=) c.13300A>C (p.Arg4434=) c.13420A>C (p.Arg4474=) c.13348A>C (p.Arg4450=) c.13315A>C (p.Arg4439=) c.13231A>C (p.Arg4411=) c.12553A>C (p.Arg4185=) c.11014A>C (p.Arg3672=) c.13435A>C (p.Arg4479=) c.13417A>C (p.Arg4473=) c.13393A>C (p.Arg4465=) c.13321A>C (p.Arg4441=) c.13285A>C (p.Arg4429=) c.10138A>C (p.Arg3380=) c.9742A>C (p.Arg3248=) | |
7 | g.152148676T>A | CA458884948 | KMT2C | c.1439A>T n.2383A>T c.13422A>T (p.Ala4474=) n.2551A>T n.8443A>T c.3824A>T c.10761A>T (p.Ala3587=) n.4881A>T c.3896A>T n.2017A>T n.1967A>T c.1668A>T (p.Ala556=) c.8148A>T (p.Ala2716=) n.9A>T c.13251A>T (p.Ala4417=) c.9038A>T c.3893A>T c.3827A>T n.7962A>T c.8151A>T (p.Ala2717=) c.12816A>T (p.Ala4272=) c.3828A>T n.2266A>T c.5932A>T c.3102A>T (p.Ala1034=) n.11133A>T c.*10771A>T (n.*10771A>T) c.13467A>T (p.Ala4489=) c.13464A>T (p.Ala4488=) c.13302A>T (p.Ala4434=) c.13395A>T (p.Ala4465=) c.13299A>T (p.Ala4433=) c.13419A>T (p.Ala4473=) c.13347A>T (p.Ala4449=) c.13314A>T (p.Ala4438=) c.13230A>T (p.Ala4410=) c.12552A>T (p.Ala4184=) c.11013A>T (p.Ala3671=) c.13434A>T (p.Ala4478=) c.13416A>T (p.Ala4472=) c.13392A>T (p.Ala4464=) c.13320A>T (p.Ala4440=) c.13284A>T (p.Ala4428=) c.10137A>T (p.Ala3379=) c.9741A>T (p.Ala3247=) | |
7 | g.152148676T>C | CA4578651 | KMT2C | c.1439A>G n.2383A>G c.13422A>G (p.Ala4474=) n.2551A>G n.8443A>G c.3824A>G c.10761A>G (p.Ala3587=) n.4881A>G c.3896A>G n.2017A>G n.1967A>G c.1668A>G (p.Ala556=) c.8148A>G (p.Ala2716=) n.9A>G c.13251A>G (p.Ala4417=) c.9038A>G c.3893A>G c.3827A>G n.7962A>G c.8151A>G (p.Ala2717=) c.12816A>G (p.Ala4272=) c.3828A>G n.2266A>G c.5932A>G c.3102A>G (p.Ala1034=) n.11133A>G c.*10771A>G (n.*10771A>G) c.13467A>G (p.Ala4489=) c.13464A>G (p.Ala4488=) c.13302A>G (p.Ala4434=) c.13395A>G (p.Ala4465=) c.13299A>G (p.Ala4433=) c.13419A>G (p.Ala4473=) c.13347A>G (p.Ala4449=) c.13314A>G (p.Ala4438=) c.13230A>G (p.Ala4410=) c.12552A>G (p.Ala4184=) c.11013A>G (p.Ala3671=) c.13434A>G (p.Ala4478=) c.13416A>G (p.Ala4472=) c.13392A>G (p.Ala4464=) c.13320A>G (p.Ala4440=) c.13284A>G (p.Ala4428=) c.10137A>G (p.Ala3379=) c.9741A>G (p.Ala3247=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.152148676T>G | CA458884950 | KMT2C | c.1439A>C n.2383A>C c.13422A>C (p.Ala4474=) n.2551A>C n.8443A>C c.3824A>C c.10761A>C (p.Ala3587=) n.4881A>C c.3896A>C n.2017A>C n.1967A>C c.1668A>C (p.Ala556=) c.8148A>C (p.Ala2716=) n.9A>C c.13251A>C (p.Ala4417=) c.9038A>C c.3893A>C c.3827A>C n.7962A>C c.8151A>C (p.Ala2717=) c.12816A>C (p.Ala4272=) c.3828A>C n.2266A>C c.5932A>C c.3102A>C (p.Ala1034=) n.11133A>C c.*10771A>C (n.*10771A>C) c.13467A>C (p.Ala4489=) c.13464A>C (p.Ala4488=) c.13302A>C (p.Ala4434=) c.13395A>C (p.Ala4465=) c.13299A>C (p.Ala4433=) c.13419A>C (p.Ala4473=) c.13347A>C (p.Ala4449=) c.13314A>C (p.Ala4438=) c.13230A>C (p.Ala4410=) c.12552A>C (p.Ala4184=) c.11013A>C (p.Ala3671=) c.13434A>C (p.Ala4478=) c.13416A>C (p.Ala4472=) c.13392A>C (p.Ala4464=) c.13320A>C (p.Ala4440=) c.13284A>C (p.Ala4428=) c.10137A>C (p.Ala3379=) c.9741A>C (p.Ala3247=) | |
7 | g.152148676T= | CA1752986142 | KMT2C | c.1439A= n.2383A= c.13422A= (p.Ala4474=) n.2551A= n.8443A= c.3824A= c.10761A= (p.Ala3587=) n.4881A= c.3896A= n.2017A= n.1967A= c.1668A= (p.Ala556=) c.8148A= (p.Ala2716=) n.9A= c.13251A= (p.Ala4417=) c.9038A= c.3893A= c.3827A= n.7962A= c.8151A= (p.Ala2717=) c.12816A= (p.Ala4272=) c.3828A= n.2266A= c.5932A= c.3102A= (p.Ala1034=) n.11133A= c.*10771A= (n.*10771A=) c.13467A= (p.Ala4489=) c.13464A= (p.Ala4488=) c.13302A= (p.Ala4434=) c.13395A= (p.Ala4465=) c.13299A= (p.Ala4433=) c.13419A= (p.Ala4473=) c.13347A= (p.Ala4449=) c.13314A= (p.Ala4438=) c.13230A= (p.Ala4410=) c.12552A= (p.Ala4184=) c.11013A= (p.Ala3671=) c.13434A= (p.Ala4478=) c.13416A= (p.Ala4472=) c.13392A= (p.Ala4464=) c.13320A= (p.Ala4440=) c.13284A= (p.Ala4428=) c.10137A= (p.Ala3379=) c.9741A= (p.Ala3247=) | |
7 | g.152148677G>A | CA370091829 | KMT2C | c.1438C>T n.2382C>T c.13421C>T (p.Ala4474Val) n.2550C>T n.8442C>T c.3823C>T c.10760C>T (p.Ala3587Val) n.4880C>T c.3895C>T n.2016C>T n.1966C>T c.1667C>T (p.Ala556Val) c.8147C>T (p.Ala2716Val) n.8C>T c.13250C>T (p.Ala4417Val) c.9037C>T c.3892C>T c.3826C>T n.7961C>T c.8150C>T (p.Ala2717Val) c.12815C>T (p.Ala4272Val) c.3827C>T n.2265C>T c.5931C>T c.3101C>T (p.Ala1034Val) n.11132C>T c.*10770C>T (n.*10770C>T) c.13466C>T (p.Ala4489Val) c.13463C>T (p.Ala4488Val) c.13301C>T (p.Ala4434Val) c.13394C>T (p.Ala4465Val) c.13298C>T (p.Ala4433Val) c.13418C>T (p.Ala4473Val) c.13346C>T (p.Ala4449Val) c.13313C>T (p.Ala4438Val) c.13229C>T (p.Ala4410Val) c.12551C>T (p.Ala4184Val) c.11012C>T (p.Ala3671Val) c.13433C>T (p.Ala4478Val) c.13415C>T (p.Ala4472Val) c.13391C>T (p.Ala4464Val) c.13319C>T (p.Ala4440Val) c.13283C>T (p.Ala4428Val) c.10136C>T (p.Ala3379Val) c.9740C>T (p.Ala3247Val) | |
7 | g.152148677G>C | CA370091831 | KMT2C | c.1438C>G n.2382C>G c.13421C>G (p.Ala4474Gly) n.2550C>G n.8442C>G c.3823C>G c.10760C>G (p.Ala3587Gly) n.4880C>G c.3895C>G n.2016C>G n.1966C>G c.1667C>G (p.Ala556Gly) c.8147C>G (p.Ala2716Gly) n.8C>G c.13250C>G (p.Ala4417Gly) c.9037C>G c.3892C>G c.3826C>G n.7961C>G c.8150C>G (p.Ala2717Gly) c.12815C>G (p.Ala4272Gly) c.3827C>G n.2265C>G c.5931C>G c.3101C>G (p.Ala1034Gly) n.11132C>G c.*10770C>G (n.*10770C>G) c.13466C>G (p.Ala4489Gly) c.13463C>G (p.Ala4488Gly) c.13301C>G (p.Ala4434Gly) c.13394C>G (p.Ala4465Gly) c.13298C>G (p.Ala4433Gly) c.13418C>G (p.Ala4473Gly) c.13346C>G (p.Ala4449Gly) c.13313C>G (p.Ala4438Gly) c.13229C>G (p.Ala4410Gly) c.12551C>G (p.Ala4184Gly) c.11012C>G (p.Ala3671Gly) c.13433C>G (p.Ala4478Gly) c.13415C>G (p.Ala4472Gly) c.13391C>G (p.Ala4464Gly) c.13319C>G (p.Ala4440Gly) c.13283C>G (p.Ala4428Gly) c.10136C>G (p.Ala3379Gly) c.9740C>G (p.Ala3247Gly) | dbSNP |
7 | g.152148677G>T | CA370091832 | KMT2C | c.1438C>A n.2382C>A c.13421C>A (p.Ala4474Glu) n.2550C>A n.8442C>A c.3823C>A c.10760C>A (p.Ala3587Glu) n.4880C>A c.3895C>A n.2016C>A n.1966C>A c.1667C>A (p.Ala556Glu) c.8147C>A (p.Ala2716Glu) n.8C>A c.13250C>A (p.Ala4417Glu) c.9037C>A c.3892C>A c.3826C>A n.7961C>A c.8150C>A (p.Ala2717Glu) c.12815C>A (p.Ala4272Glu) c.3827C>A n.2265C>A c.5931C>A c.3101C>A (p.Ala1034Glu) n.11132C>A c.*10770C>A (n.*10770C>A) c.13466C>A (p.Ala4489Glu) c.13463C>A (p.Ala4488Glu) c.13301C>A (p.Ala4434Glu) c.13394C>A (p.Ala4465Glu) c.13298C>A (p.Ala4433Glu) c.13418C>A (p.Ala4473Glu) c.13346C>A (p.Ala4449Glu) c.13313C>A (p.Ala4438Glu) c.13229C>A (p.Ala4410Glu) c.12551C>A (p.Ala4184Glu) c.11012C>A (p.Ala3671Glu) c.13433C>A (p.Ala4478Glu) c.13415C>A (p.Ala4472Glu) c.13391C>A (p.Ala4464Glu) c.13319C>A (p.Ala4440Glu) c.13283C>A (p.Ala4428Glu) c.10136C>A (p.Ala3379Glu) c.9740C>A (p.Ala3247Glu) | |
7 | g.152148678C>A | CA370091834 | KMT2C | c.1437G>T n.2381G>T c.13420G>T (p.Ala4474Ser) n.2549G>T n.8441G>T c.3822G>T c.10759G>T (p.Ala3587Ser) n.4879G>T c.3894G>T n.2015G>T n.1965G>T c.1666G>T (p.Ala556Ser) c.8146G>T (p.Ala2716Ser) n.7G>T c.13249G>T (p.Ala4417Ser) c.9036G>T c.3891G>T c.3825G>T n.7960G>T c.8149G>T (p.Ala2717Ser) c.12814G>T (p.Ala4272Ser) c.3826G>T n.2264G>T c.5930G>T c.3100G>T (p.Ala1034Ser) n.11131G>T c.*10769G>T (n.*10769G>T) c.13465G>T (p.Ala4489Ser) c.13462G>T (p.Ala4488Ser) c.13300G>T (p.Ala4434Ser) c.13393G>T (p.Ala4465Ser) c.13297G>T (p.Ala4433Ser) c.13417G>T (p.Ala4473Ser) c.13345G>T (p.Ala4449Ser) c.13312G>T (p.Ala4438Ser) c.13228G>T (p.Ala4410Ser) c.12550G>T (p.Ala4184Ser) c.11011G>T (p.Ala3671Ser) c.13432G>T (p.Ala4478Ser) c.13414G>T (p.Ala4472Ser) c.13390G>T (p.Ala4464Ser) c.13318G>T (p.Ala4440Ser) c.13282G>T (p.Ala4428Ser) c.10135G>T (p.Ala3379Ser) c.9739G>T (p.Ala3247Ser) | dbSNP COSMIC COSMIC |
7 | g.152148678C>G | CA370091835 | KMT2C | c.1437G>C n.2381G>C c.13420G>C (p.Ala4474Pro) n.2549G>C n.8441G>C c.3822G>C c.10759G>C (p.Ala3587Pro) n.4879G>C c.3894G>C n.2015G>C n.1965G>C c.1666G>C (p.Ala556Pro) c.8146G>C (p.Ala2716Pro) n.7G>C c.13249G>C (p.Ala4417Pro) c.9036G>C c.3891G>C c.3825G>C n.7960G>C c.8149G>C (p.Ala2717Pro) c.12814G>C (p.Ala4272Pro) c.3826G>C n.2264G>C c.5930G>C c.3100G>C (p.Ala1034Pro) n.11131G>C c.*10769G>C (n.*10769G>C) c.13465G>C (p.Ala4489Pro) c.13462G>C (p.Ala4488Pro) c.13300G>C (p.Ala4434Pro) c.13393G>C (p.Ala4465Pro) c.13297G>C (p.Ala4433Pro) c.13417G>C (p.Ala4473Pro) c.13345G>C (p.Ala4449Pro) c.13312G>C (p.Ala4438Pro) c.13228G>C (p.Ala4410Pro) c.12550G>C (p.Ala4184Pro) c.11011G>C (p.Ala3671Pro) c.13432G>C (p.Ala4478Pro) c.13414G>C (p.Ala4472Pro) c.13390G>C (p.Ala4464Pro) c.13318G>C (p.Ala4440Pro) c.13282G>C (p.Ala4428Pro) c.10135G>C (p.Ala3379Pro) c.9739G>C (p.Ala3247Pro) | |
7 | g.152148678C>T | CA370091837 | KMT2C | c.1437G>A n.2381G>A c.13420G>A (p.Ala4474Thr) n.2549G>A n.8441G>A c.3822G>A c.10759G>A (p.Ala3587Thr) n.4879G>A c.3894G>A n.2015G>A n.1965G>A c.1666G>A (p.Ala556Thr) c.8146G>A (p.Ala2716Thr) n.7G>A c.13249G>A (p.Ala4417Thr) c.9036G>A c.3891G>A c.3825G>A n.7960G>A c.8149G>A (p.Ala2717Thr) c.12814G>A (p.Ala4272Thr) c.3826G>A n.2264G>A c.5930G>A c.3100G>A (p.Ala1034Thr) n.11131G>A c.*10769G>A (n.*10769G>A) c.13465G>A (p.Ala4489Thr) c.13462G>A (p.Ala4488Thr) c.13300G>A (p.Ala4434Thr) c.13393G>A (p.Ala4465Thr) c.13297G>A (p.Ala4433Thr) c.13417G>A (p.Ala4473Thr) c.13345G>A (p.Ala4449Thr) c.13312G>A (p.Ala4438Thr) c.13228G>A (p.Ala4410Thr) c.12550G>A (p.Ala4184Thr) c.11011G>A (p.Ala3671Thr) c.13432G>A (p.Ala4478Thr) c.13414G>A (p.Ala4472Thr) c.13390G>A (p.Ala4464Thr) c.13318G>A (p.Ala4440Thr) c.13282G>A (p.Ala4428Thr) c.10135G>A (p.Ala3379Thr) c.9739G>A (p.Ala3247Thr) | dbSNP COSMIC COSMIC |
7 | g.152148679T>A | CA458884954 | KMT2C | c.1436A>T n.2380A>T c.13419A>T (p.Pro4473=) n.2548A>T n.8440A>T c.3821A>T c.10758A>T (p.Pro3586=) n.4878A>T c.3893A>T n.2014A>T n.1964A>T c.1665A>T (p.Pro555=) c.8145A>T (p.Pro2715=) n.6A>T c.13248A>T (p.Pro4416=) c.9035A>T c.3890A>T c.3824A>T n.7959A>T c.8148A>T (p.Pro2716=) c.12813A>T (p.Pro4271=) c.3825A>T n.2263A>T c.5929A>T c.3099A>T (p.Pro1033=) n.11130A>T c.*10768A>T (n.*10768A>T) c.13464A>T (p.Pro4488=) c.13461A>T (p.Pro4487=) c.13299A>T (p.Pro4433=) c.13392A>T (p.Pro4464=) c.13296A>T (p.Pro4432=) c.13416A>T (p.Pro4472=) c.13344A>T (p.Pro4448=) c.13311A>T (p.Pro4437=) c.13227A>T (p.Pro4409=) c.12549A>T (p.Pro4183=) c.11010A>T (p.Pro3670=) c.13431A>T (p.Pro4477=) c.13413A>T (p.Pro4471=) c.13389A>T (p.Pro4463=) c.13317A>T (p.Pro4439=) c.13281A>T (p.Pro4427=) c.10134A>T (p.Pro3378=) c.9738A>T (p.Pro3246=) | |
7 | g.152148679T>C | CA458884956 | KMT2C | c.1436A>G n.2380A>G c.13419A>G (p.Pro4473=) n.2548A>G n.8440A>G c.3821A>G c.10758A>G (p.Pro3586=) n.4878A>G c.3893A>G n.2014A>G n.1964A>G c.1665A>G (p.Pro555=) c.8145A>G (p.Pro2715=) n.6A>G c.13248A>G (p.Pro4416=) c.9035A>G c.3890A>G c.3824A>G n.7959A>G c.8148A>G (p.Pro2716=) c.12813A>G (p.Pro4271=) c.3825A>G n.2263A>G c.5929A>G c.3099A>G (p.Pro1033=) n.11130A>G c.*10768A>G (n.*10768A>G) c.13464A>G (p.Pro4488=) c.13461A>G (p.Pro4487=) c.13299A>G (p.Pro4433=) c.13392A>G (p.Pro4464=) c.13296A>G (p.Pro4432=) c.13416A>G (p.Pro4472=) c.13344A>G (p.Pro4448=) c.13311A>G (p.Pro4437=) c.13227A>G (p.Pro4409=) c.12549A>G (p.Pro4183=) c.11010A>G (p.Pro3670=) c.13431A>G (p.Pro4477=) c.13413A>G (p.Pro4471=) c.13389A>G (p.Pro4463=) c.13317A>G (p.Pro4439=) c.13281A>G (p.Pro4427=) c.10134A>G (p.Pro3378=) c.9738A>G (p.Pro3246=) | |
7 | g.152148679T>G | CA458884957 | KMT2C | c.1436A>C n.2380A>C c.13419A>C (p.Pro4473=) n.2548A>C n.8440A>C c.3821A>C c.10758A>C (p.Pro3586=) n.4878A>C c.3893A>C n.2014A>C n.1964A>C c.1665A>C (p.Pro555=) c.8145A>C (p.Pro2715=) n.6A>C c.13248A>C (p.Pro4416=) c.9035A>C c.3890A>C c.3824A>C n.7959A>C c.8148A>C (p.Pro2716=) c.12813A>C (p.Pro4271=) c.3825A>C n.2263A>C c.5929A>C c.3099A>C (p.Pro1033=) n.11130A>C c.*10768A>C (n.*10768A>C) c.13464A>C (p.Pro4488=) c.13461A>C (p.Pro4487=) c.13299A>C (p.Pro4433=) c.13392A>C (p.Pro4464=) c.13296A>C (p.Pro4432=) c.13416A>C (p.Pro4472=) c.13344A>C (p.Pro4448=) c.13311A>C (p.Pro4437=) c.13227A>C (p.Pro4409=) c.12549A>C (p.Pro4183=) c.11010A>C (p.Pro3670=) c.13431A>C (p.Pro4477=) c.13413A>C (p.Pro4471=) c.13389A>C (p.Pro4463=) c.13317A>C (p.Pro4439=) c.13281A>C (p.Pro4427=) c.10134A>C (p.Pro3378=) c.9738A>C (p.Pro3246=) | |
7 | g.152148680G>A | CA370091839 | KMT2C | c.1435C>T n.2379C>T c.13418C>T (p.Pro4473Leu) n.2547C>T n.8439C>T c.3820C>T c.10757C>T (p.Pro3586Leu) n.4877C>T c.3892C>T n.2013C>T n.1963C>T c.1664C>T (p.Pro555Leu) c.8144C>T (p.Pro2715Leu) n.5C>T c.13247C>T (p.Pro4416Leu) c.9034C>T c.3889C>T c.3823C>T n.7958C>T c.8147C>T (p.Pro2716Leu) c.12812C>T (p.Pro4271Leu) c.3824C>T n.2262C>T c.5928C>T c.3098C>T (p.Pro1033Leu) n.11129C>T c.*10767C>T (n.*10767C>T) c.13463C>T (p.Pro4488Leu) c.13460C>T (p.Pro4487Leu) c.13298C>T (p.Pro4433Leu) c.13391C>T (p.Pro4464Leu) c.13295C>T (p.Pro4432Leu) c.13415C>T (p.Pro4472Leu) c.13343C>T (p.Pro4448Leu) c.13310C>T (p.Pro4437Leu) c.13226C>T (p.Pro4409Leu) c.12548C>T (p.Pro4183Leu) c.11009C>T (p.Pro3670Leu) c.13430C>T (p.Pro4477Leu) c.13412C>T (p.Pro4471Leu) c.13388C>T (p.Pro4463Leu) c.13316C>T (p.Pro4439Leu) c.13280C>T (p.Pro4427Leu) c.10133C>T (p.Pro3378Leu) c.9737C>T (p.Pro3246Leu) | |
7 | g.152148680G>C | CA370091840 | KMT2C | c.1435C>G n.2379C>G c.13418C>G (p.Pro4473Arg) n.2547C>G n.8439C>G c.3820C>G c.10757C>G (p.Pro3586Arg) n.4877C>G c.3892C>G n.2013C>G n.1963C>G c.1664C>G (p.Pro555Arg) c.8144C>G (p.Pro2715Arg) n.5C>G c.13247C>G (p.Pro4416Arg) c.9034C>G c.3889C>G c.3823C>G n.7958C>G c.8147C>G (p.Pro2716Arg) c.12812C>G (p.Pro4271Arg) c.3824C>G n.2262C>G c.5928C>G c.3098C>G (p.Pro1033Arg) n.11129C>G c.*10767C>G (n.*10767C>G) c.13463C>G (p.Pro4488Arg) c.13460C>G (p.Pro4487Arg) c.13298C>G (p.Pro4433Arg) c.13391C>G (p.Pro4464Arg) c.13295C>G (p.Pro4432Arg) c.13415C>G (p.Pro4472Arg) c.13343C>G (p.Pro4448Arg) c.13310C>G (p.Pro4437Arg) c.13226C>G (p.Pro4409Arg) c.12548C>G (p.Pro4183Arg) c.11009C>G (p.Pro3670Arg) c.13430C>G (p.Pro4477Arg) c.13412C>G (p.Pro4471Arg) c.13388C>G (p.Pro4463Arg) c.13316C>G (p.Pro4439Arg) c.13280C>G (p.Pro4427Arg) c.10133C>G (p.Pro3378Arg) c.9737C>G (p.Pro3246Arg) | |
7 | g.152148680G>T | CA370091841 | KMT2C | c.1435C>A n.2379C>A c.13418C>A (p.Pro4473Gln) n.2547C>A n.8439C>A c.3820C>A c.10757C>A (p.Pro3586Gln) n.4877C>A c.3892C>A n.2013C>A n.1963C>A c.1664C>A (p.Pro555Gln) c.8144C>A (p.Pro2715Gln) n.5C>A c.13247C>A (p.Pro4416Gln) c.9034C>A c.3889C>A c.3823C>A n.7958C>A c.8147C>A (p.Pro2716Gln) c.12812C>A (p.Pro4271Gln) c.3824C>A n.2262C>A c.5928C>A c.3098C>A (p.Pro1033Gln) n.11129C>A c.*10767C>A (n.*10767C>A) c.13463C>A (p.Pro4488Gln) c.13460C>A (p.Pro4487Gln) c.13298C>A (p.Pro4433Gln) c.13391C>A (p.Pro4464Gln) c.13295C>A (p.Pro4432Gln) c.13415C>A (p.Pro4472Gln) c.13343C>A (p.Pro4448Gln) c.13310C>A (p.Pro4437Gln) c.13226C>A (p.Pro4409Gln) c.12548C>A (p.Pro4183Gln) c.11009C>A (p.Pro3670Gln) c.13430C>A (p.Pro4477Gln) c.13412C>A (p.Pro4471Gln) c.13388C>A (p.Pro4463Gln) c.13316C>A (p.Pro4439Gln) c.13280C>A (p.Pro4427Gln) c.10133C>A (p.Pro3378Gln) c.9737C>A (p.Pro3246Gln) | |
7 | g.152148681G>A | CA160797 | KMT2C | c.1434C>T n.2378C>T c.13417C>T (p.Pro4473Ser) n.2546C>T n.8438C>T c.3819C>T c.10756C>T (p.Pro3586Ser) n.4876C>T c.3891C>T n.2012C>T n.1962C>T c.1663C>T (p.Pro555Ser) c.8143C>T (p.Pro2715Ser) n.4C>T c.13246C>T (p.Pro4416Ser) c.9033C>T c.3888C>T c.3822C>T n.7957C>T c.8146C>T (p.Pro2716Ser) c.12811C>T (p.Pro4271Ser) c.3823C>T n.2261C>T c.5927C>T c.3097C>T (p.Pro1033Ser) n.11128C>T c.*10766C>T (n.*10766C>T) c.13462C>T (p.Pro4488Ser) c.13459C>T (p.Pro4487Ser) c.13297C>T (p.Pro4433Ser) c.13390C>T (p.Pro4464Ser) c.13294C>T (p.Pro4432Ser) c.13414C>T (p.Pro4472Ser) c.13342C>T (p.Pro4448Ser) c.13309C>T (p.Pro4437Ser) c.13225C>T (p.Pro4409Ser) c.12547C>T (p.Pro4183Ser) c.11008C>T (p.Pro3670Ser) c.13429C>T (p.Pro4477Ser) c.13411C>T (p.Pro4471Ser) c.13387C>T (p.Pro4463Ser) c.13315C>T (p.Pro4439Ser) c.13279C>T (p.Pro4427Ser) c.10132C>T (p.Pro3378Ser) c.9736C>T (p.Pro3246Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.152148681G>C | CA370091842 | KMT2C | c.1434C>G n.2378C>G c.13417C>G (p.Pro4473Ala) n.2546C>G n.8438C>G c.3819C>G c.10756C>G (p.Pro3586Ala) n.4876C>G c.3891C>G n.2012C>G n.1962C>G c.1663C>G (p.Pro555Ala) c.8143C>G (p.Pro2715Ala) n.4C>G c.13246C>G (p.Pro4416Ala) c.9033C>G c.3888C>G c.3822C>G n.7957C>G c.8146C>G (p.Pro2716Ala) c.12811C>G (p.Pro4271Ala) c.3823C>G n.2261C>G c.5927C>G c.3097C>G (p.Pro1033Ala) n.11128C>G c.*10766C>G (n.*10766C>G) c.13462C>G (p.Pro4488Ala) c.13459C>G (p.Pro4487Ala) c.13297C>G (p.Pro4433Ala) c.13390C>G (p.Pro4464Ala) c.13294C>G (p.Pro4432Ala) c.13414C>G (p.Pro4472Ala) c.13342C>G (p.Pro4448Ala) c.13309C>G (p.Pro4437Ala) c.13225C>G (p.Pro4409Ala) c.12547C>G (p.Pro4183Ala) c.11008C>G (p.Pro3670Ala) c.13429C>G (p.Pro4477Ala) c.13411C>G (p.Pro4471Ala) c.13387C>G (p.Pro4463Ala) c.13315C>G (p.Pro4439Ala) c.13279C>G (p.Pro4427Ala) c.10132C>G (p.Pro3378Ala) c.9736C>G (p.Pro3246Ala) | gnomAD v4 |
7 | g.152148681G= | CA1752986150 | KMT2C | c.1434C= n.2378C= c.13417C= (p.Pro4473=) n.2546C= n.8438C= c.3819C= c.10756C= (p.Pro3586=) n.4876C= c.3891C= n.2012C= n.1962C= c.1663C= (p.Pro555=) c.8143C= (p.Pro2715=) n.4C= c.13246C= (p.Pro4416=) c.9033C= c.3888C= c.3822C= n.7957C= c.8146C= (p.Pro2716=) c.12811C= (p.Pro4271=) c.3823C= n.2261C= c.5927C= c.3097C= (p.Pro1033=) n.11128C= c.*10766C= (n.*10766C=) c.13462C= (p.Pro4488=) c.13459C= (p.Pro4487=) c.13297C= (p.Pro4433=) c.13390C= (p.Pro4464=) c.13294C= (p.Pro4432=) c.13414C= (p.Pro4472=) c.13342C= (p.Pro4448=) c.13309C= (p.Pro4437=) c.13225C= (p.Pro4409=) c.12547C= (p.Pro4183=) c.11008C= (p.Pro3670=) c.13429C= (p.Pro4477=) c.13411C= (p.Pro4471=) c.13387C= (p.Pro4463=) c.13315C= (p.Pro4439=) c.13279C= (p.Pro4427=) c.10132C= (p.Pro3378=) c.9736C= (p.Pro3246=) | |
7 | g.152148681G>T | CA370091844 | KMT2C | c.1434C>A n.2378C>A c.13417C>A (p.Pro4473Thr) n.2546C>A n.8438C>A c.3819C>A c.10756C>A (p.Pro3586Thr) n.4876C>A c.3891C>A n.2012C>A n.1962C>A c.1663C>A (p.Pro555Thr) c.8143C>A (p.Pro2715Thr) n.4C>A c.13246C>A (p.Pro4416Thr) c.9033C>A c.3888C>A c.3822C>A n.7957C>A c.8146C>A (p.Pro2716Thr) c.12811C>A (p.Pro4271Thr) c.3823C>A n.2261C>A c.5927C>A c.3097C>A (p.Pro1033Thr) n.11128C>A c.*10766C>A (n.*10766C>A) c.13462C>A (p.Pro4488Thr) c.13459C>A (p.Pro4487Thr) c.13297C>A (p.Pro4433Thr) c.13390C>A (p.Pro4464Thr) c.13294C>A (p.Pro4432Thr) c.13414C>A (p.Pro4472Thr) c.13342C>A (p.Pro4448Thr) c.13309C>A (p.Pro4437Thr) c.13225C>A (p.Pro4409Thr) c.12547C>A (p.Pro4183Thr) c.11008C>A (p.Pro3670Thr) c.13429C>A (p.Pro4477Thr) c.13411C>A (p.Pro4471Thr) c.13387C>A (p.Pro4463Thr) c.13315C>A (p.Pro4439Thr) c.13279C>A (p.Pro4427Thr) c.10132C>A (p.Pro3378Thr) c.9736C>A (p.Pro3246Thr) | |
7 | g.152148682T>A | CA458884964 | KMT2C | c.1433A>T n.2377A>T c.13416A>T (p.Gly4472=) n.2545A>T n.8437A>T c.3818A>T c.10755A>T (p.Gly3585=) n.4875A>T c.3890A>T n.2011A>T n.1961A>T c.1662A>T (p.Gly554=) c.8142A>T (p.Gly2714=) n.3A>T c.13245A>T (p.Gly4415=) c.9032A>T c.3887A>T c.3821A>T n.7956A>T c.8145A>T (p.Gly2715=) c.12810A>T (p.Gly4270=) c.3822A>T n.2260A>T c.5926A>T c.3096A>T (p.Gly1032=) n.11127A>T c.*10765A>T (n.*10765A>T) c.13461A>T (p.Gly4487=) c.13458A>T (p.Gly4486=) c.13296A>T (p.Gly4432=) c.13389A>T (p.Gly4463=) c.13293A>T (p.Gly4431=) c.13413A>T (p.Gly4471=) c.13341A>T (p.Gly4447=) c.13308A>T (p.Gly4436=) c.13224A>T (p.Gly4408=) c.12546A>T (p.Gly4182=) c.11007A>T (p.Gly3669=) c.13428A>T (p.Gly4476=) c.13410A>T (p.Gly4470=) c.13386A>T (p.Gly4462=) c.13314A>T (p.Gly4438=) c.13278A>T (p.Gly4426=) c.10131A>T (p.Gly3377=) c.9735A>T (p.Gly3245=) | |
7 | g.152148682T>C | CA458884967 | KMT2C | c.1433A>G n.2377A>G c.13416A>G (p.Gly4472=) n.2545A>G n.8437A>G c.3818A>G c.10755A>G (p.Gly3585=) n.4875A>G c.3890A>G n.2011A>G n.1961A>G c.1662A>G (p.Gly554=) c.8142A>G (p.Gly2714=) n.3A>G c.13245A>G (p.Gly4415=) c.9032A>G c.3887A>G c.3821A>G n.7956A>G c.8145A>G (p.Gly2715=) c.12810A>G (p.Gly4270=) c.3822A>G n.2260A>G c.5926A>G c.3096A>G (p.Gly1032=) n.11127A>G c.*10765A>G (n.*10765A>G) c.13461A>G (p.Gly4487=) c.13458A>G (p.Gly4486=) c.13296A>G (p.Gly4432=) c.13389A>G (p.Gly4463=) c.13293A>G (p.Gly4431=) c.13413A>G (p.Gly4471=) c.13341A>G (p.Gly4447=) c.13308A>G (p.Gly4436=) c.13224A>G (p.Gly4408=) c.12546A>G (p.Gly4182=) c.11007A>G (p.Gly3669=) c.13428A>G (p.Gly4476=) c.13410A>G (p.Gly4470=) c.13386A>G (p.Gly4462=) c.13314A>G (p.Gly4438=) c.13278A>G (p.Gly4426=) c.10131A>G (p.Gly3377=) c.9735A>G (p.Gly3245=) | |
7 | g.152148682T>G | CA458884968 | KMT2C | c.1433A>C n.2377A>C c.13416A>C (p.Gly4472=) n.2545A>C n.8437A>C c.3818A>C c.10755A>C (p.Gly3585=) n.4875A>C c.3890A>C n.2011A>C n.1961A>C c.1662A>C (p.Gly554=) c.8142A>C (p.Gly2714=) n.3A>C c.13245A>C (p.Gly4415=) c.9032A>C c.3887A>C c.3821A>C n.7956A>C c.8145A>C (p.Gly2715=) c.12810A>C (p.Gly4270=) c.3822A>C n.2260A>C c.5926A>C c.3096A>C (p.Gly1032=) n.11127A>C c.*10765A>C (n.*10765A>C) c.13461A>C (p.Gly4487=) c.13458A>C (p.Gly4486=) c.13296A>C (p.Gly4432=) c.13389A>C (p.Gly4463=) c.13293A>C (p.Gly4431=) c.13413A>C (p.Gly4471=) c.13341A>C (p.Gly4447=) c.13308A>C (p.Gly4436=) c.13224A>C (p.Gly4408=) c.12546A>C (p.Gly4182=) c.11007A>C (p.Gly3669=) c.13428A>C (p.Gly4476=) c.13410A>C (p.Gly4470=) c.13386A>C (p.Gly4462=) c.13314A>C (p.Gly4438=) c.13278A>C (p.Gly4426=) c.10131A>C (p.Gly3377=) c.9735A>C (p.Gly3245=) | |
7 | g.152148683C>A | CA370091847 | KMT2C | c.1432G>T n.2376G>T c.13415G>T (p.Gly4472Val) n.2544G>T n.8436G>T c.3817G>T c.10754G>T (p.Gly3585Val) n.4874G>T c.3889G>T n.2010G>T n.1960G>T c.1661G>T (p.Gly554Val) c.8141G>T (p.Gly2714Val) n.2G>T c.13244G>T (p.Gly4415Val) c.9031G>T c.3886G>T c.3820G>T n.7955G>T c.8144G>T (p.Gly2715Val) c.12809G>T (p.Gly4270Val) c.3821G>T n.2259G>T c.5925G>T c.3095G>T (p.Gly1032Val) n.11126G>T c.*10764G>T (n.*10764G>T) c.13460G>T (p.Gly4487Val) c.13457G>T (p.Gly4486Val) c.13295G>T (p.Gly4432Val) c.13388G>T (p.Gly4463Val) c.13292G>T (p.Gly4431Val) c.13412G>T (p.Gly4471Val) c.13340G>T (p.Gly4447Val) c.13307G>T (p.Gly4436Val) c.13223G>T (p.Gly4408Val) c.12545G>T (p.Gly4182Val) c.11006G>T (p.Gly3669Val) c.13427G>T (p.Gly4476Val) c.13409G>T (p.Gly4470Val) c.13385G>T (p.Gly4462Val) c.13313G>T (p.Gly4438Val) c.13277G>T (p.Gly4426Val) c.10130G>T (p.Gly3377Val) c.9734G>T (p.Gly3245Val) | |
7 | g.152148683C>G | CA370091850 | KMT2C | c.1432G>C n.2376G>C c.13415G>C (p.Gly4472Ala) n.2544G>C n.8436G>C c.3817G>C c.10754G>C (p.Gly3585Ala) n.4874G>C c.3889G>C n.2010G>C n.1960G>C c.1661G>C (p.Gly554Ala) c.8141G>C (p.Gly2714Ala) n.2G>C c.13244G>C (p.Gly4415Ala) c.9031G>C c.3886G>C c.3820G>C n.7955G>C c.8144G>C (p.Gly2715Ala) c.12809G>C (p.Gly4270Ala) c.3821G>C n.2259G>C c.5925G>C c.3095G>C (p.Gly1032Ala) n.11126G>C c.*10764G>C (n.*10764G>C) c.13460G>C (p.Gly4487Ala) c.13457G>C (p.Gly4486Ala) c.13295G>C (p.Gly4432Ala) c.13388G>C (p.Gly4463Ala) c.13292G>C (p.Gly4431Ala) c.13412G>C (p.Gly4471Ala) c.13340G>C (p.Gly4447Ala) c.13307G>C (p.Gly4436Ala) c.13223G>C (p.Gly4408Ala) c.12545G>C (p.Gly4182Ala) c.11006G>C (p.Gly3669Ala) c.13427G>C (p.Gly4476Ala) c.13409G>C (p.Gly4470Ala) c.13385G>C (p.Gly4462Ala) c.13313G>C (p.Gly4438Ala) c.13277G>C (p.Gly4426Ala) c.10130G>C (p.Gly3377Ala) c.9734G>C (p.Gly3245Ala) | |
7 | g.152148683C>T | CA370091848 | KMT2C | c.1432G>A n.2376G>A c.13415G>A (p.Gly4472Glu) n.2544G>A n.8436G>A c.3817G>A c.10754G>A (p.Gly3585Glu) n.4874G>A c.3889G>A n.2010G>A n.1960G>A c.1661G>A (p.Gly554Glu) c.8141G>A (p.Gly2714Glu) n.2G>A c.13244G>A (p.Gly4415Glu) c.9031G>A c.3886G>A c.3820G>A n.7955G>A c.8144G>A (p.Gly2715Glu) c.12809G>A (p.Gly4270Glu) c.3821G>A n.2259G>A c.5925G>A c.3095G>A (p.Gly1032Glu) n.11126G>A c.*10764G>A (n.*10764G>A) c.13460G>A (p.Gly4487Glu) c.13457G>A (p.Gly4486Glu) c.13295G>A (p.Gly4432Glu) c.13388G>A (p.Gly4463Glu) c.13292G>A (p.Gly4431Glu) c.13412G>A (p.Gly4471Glu) c.13340G>A (p.Gly4447Glu) c.13307G>A (p.Gly4436Glu) c.13223G>A (p.Gly4408Glu) c.12545G>A (p.Gly4182Glu) c.11006G>A (p.Gly3669Glu) c.13427G>A (p.Gly4476Glu) c.13409G>A (p.Gly4470Glu) c.13385G>A (p.Gly4462Glu) c.13313G>A (p.Gly4438Glu) c.13277G>A (p.Gly4426Glu) c.10130G>A (p.Gly3377Glu) c.9734G>A (p.Gly3245Glu) | dbSNP COSMIC COSMIC |