Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
7 | g.152148684C>A | CA370091852 | KMT2C | c.1431G>T n.2375G>T c.13414G>T (p.Gly4472Ter) n.2543G>T n.8435G>T c.3816G>T c.10753G>T (p.Gly3585Ter) n.4873G>T c.3888G>T n.2009G>T n.1959G>T c.1660G>T (p.Gly554Ter) c.8140G>T (p.Gly2714Ter) n.1G>T c.13243G>T (p.Gly4415Ter) c.9030G>T c.3885G>T c.3819G>T n.7954G>T c.8143G>T (p.Gly2715Ter) c.12808G>T (p.Gly4270Ter) c.3820G>T n.2258G>T c.5924G>T c.3094G>T (p.Gly1032Ter) n.11125G>T c.*10763G>T (n.*10763G>T) c.13459G>T (p.Gly4487Ter) c.13456G>T (p.Gly4486Ter) c.13294G>T (p.Gly4432Ter) c.13387G>T (p.Gly4463Ter) c.13291G>T (p.Gly4431Ter) c.13411G>T (p.Gly4471Ter) c.13339G>T (p.Gly4447Ter) c.13306G>T (p.Gly4436Ter) c.13222G>T (p.Gly4408Ter) c.12544G>T (p.Gly4182Ter) c.11005G>T (p.Gly3669Ter) c.13426G>T (p.Gly4476Ter) c.13408G>T (p.Gly4470Ter) c.13384G>T (p.Gly4462Ter) c.13312G>T (p.Gly4438Ter) c.13276G>T (p.Gly4426Ter) c.10129G>T (p.Gly3377Ter) c.9733G>T (p.Gly3245Ter) | dbSNP |
7 | g.152148684C>G | CA370091855 | KMT2C | c.1431G>C n.2375G>C c.13414G>C (p.Gly4472Arg) n.2543G>C n.8435G>C c.3816G>C c.10753G>C (p.Gly3585Arg) n.4873G>C c.3888G>C n.2009G>C n.1959G>C c.1660G>C (p.Gly554Arg) c.8140G>C (p.Gly2714Arg) n.1G>C c.13243G>C (p.Gly4415Arg) c.9030G>C c.3885G>C c.3819G>C n.7954G>C c.8143G>C (p.Gly2715Arg) c.12808G>C (p.Gly4270Arg) c.3820G>C n.2258G>C c.5924G>C c.3094G>C (p.Gly1032Arg) n.11125G>C c.*10763G>C (n.*10763G>C) c.13459G>C (p.Gly4487Arg) c.13456G>C (p.Gly4486Arg) c.13294G>C (p.Gly4432Arg) c.13387G>C (p.Gly4463Arg) c.13291G>C (p.Gly4431Arg) c.13411G>C (p.Gly4471Arg) c.13339G>C (p.Gly4447Arg) c.13306G>C (p.Gly4436Arg) c.13222G>C (p.Gly4408Arg) c.12544G>C (p.Gly4182Arg) c.11005G>C (p.Gly3669Arg) c.13426G>C (p.Gly4476Arg) c.13408G>C (p.Gly4470Arg) c.13384G>C (p.Gly4462Arg) c.13312G>C (p.Gly4438Arg) c.13276G>C (p.Gly4426Arg) c.10129G>C (p.Gly3377Arg) c.9733G>C (p.Gly3245Arg) | |
7 | g.152148684C>T | CA370091854 | KMT2C | c.1431G>A n.2375G>A c.13414G>A (p.Gly4472Arg) n.2543G>A n.8435G>A c.3816G>A c.10753G>A (p.Gly3585Arg) n.4873G>A c.3888G>A n.2009G>A n.1959G>A c.1660G>A (p.Gly554Arg) c.8140G>A (p.Gly2714Arg) n.1G>A c.13243G>A (p.Gly4415Arg) c.9030G>A c.3885G>A c.3819G>A n.7954G>A c.8143G>A (p.Gly2715Arg) c.12808G>A (p.Gly4270Arg) c.3820G>A n.2258G>A c.5924G>A c.3094G>A (p.Gly1032Arg) n.11125G>A c.*10763G>A (n.*10763G>A) c.13459G>A (p.Gly4487Arg) c.13456G>A (p.Gly4486Arg) c.13294G>A (p.Gly4432Arg) c.13387G>A (p.Gly4463Arg) c.13291G>A (p.Gly4431Arg) c.13411G>A (p.Gly4471Arg) c.13339G>A (p.Gly4447Arg) c.13306G>A (p.Gly4436Arg) c.13222G>A (p.Gly4408Arg) c.12544G>A (p.Gly4182Arg) c.11005G>A (p.Gly3669Arg) c.13426G>A (p.Gly4476Arg) c.13408G>A (p.Gly4470Arg) c.13384G>A (p.Gly4462Arg) c.13312G>A (p.Gly4438Arg) c.13276G>A (p.Gly4426Arg) c.10129G>A (p.Gly3377Arg) c.9733G>A (p.Gly3245Arg) | |
7 | g.152148685A>C | CA370091857 | KMT2C | c.1430T>G n.2374T>G c.13413T>G (p.Asp4471Glu) n.2542T>G n.8434T>G c.3815T>G c.10752T>G (p.Asp3584Glu) n.4872T>G c.3887T>G n.2008T>G n.1958T>G c.1659T>G (p.Asp553Glu) c.8139T>G (p.Asp2713Glu) c.13242T>G (p.Asp4414Glu) c.9029T>G c.3884T>G c.3818T>G n.7953T>G c.8142T>G (p.Asp2714Glu) c.12807T>G (p.Asp4269Glu) c.3819T>G n.2257T>G c.5923T>G c.3093T>G (p.Asp1031Glu) n.11124T>G c.*10762T>G (n.*10762T>G) c.13458T>G (p.Asp4486Glu) c.13455T>G (p.Asp4485Glu) c.13293T>G (p.Asp4431Glu) c.13386T>G (p.Asp4462Glu) c.13290T>G (p.Asp4430Glu) c.13410T>G (p.Asp4470Glu) c.13338T>G (p.Asp4446Glu) c.13305T>G (p.Asp4435Glu) c.13221T>G (p.Asp4407Glu) c.12543T>G (p.Asp4181Glu) c.11004T>G (p.Asp3668Glu) c.13425T>G (p.Asp4475Glu) c.13407T>G (p.Asp4469Glu) c.13383T>G (p.Asp4461Glu) c.13311T>G (p.Asp4437Glu) c.13275T>G (p.Asp4425Glu) c.10128T>G (p.Asp3376Glu) c.9732T>G (p.Asp3244Glu) | |
7 | g.152148685A>G | CA458884974 | KMT2C | c.1430T>C n.2374T>C c.13413T>C (p.Asp4471=) n.2542T>C n.8434T>C c.3815T>C c.10752T>C (p.Asp3584=) n.4872T>C c.3887T>C n.2008T>C n.1958T>C c.1659T>C (p.Asp553=) c.8139T>C (p.Asp2713=) c.13242T>C (p.Asp4414=) c.9029T>C c.3884T>C c.3818T>C n.7953T>C c.8142T>C (p.Asp2714=) c.12807T>C (p.Asp4269=) c.3819T>C n.2257T>C c.5923T>C c.3093T>C (p.Asp1031=) n.11124T>C c.*10762T>C (n.*10762T>C) c.13458T>C (p.Asp4486=) c.13455T>C (p.Asp4485=) c.13293T>C (p.Asp4431=) c.13386T>C (p.Asp4462=) c.13290T>C (p.Asp4430=) c.13410T>C (p.Asp4470=) c.13338T>C (p.Asp4446=) c.13305T>C (p.Asp4435=) c.13221T>C (p.Asp4407=) c.12543T>C (p.Asp4181=) c.11004T>C (p.Asp3668=) c.13425T>C (p.Asp4475=) c.13407T>C (p.Asp4469=) c.13383T>C (p.Asp4461=) c.13311T>C (p.Asp4437=) c.13275T>C (p.Asp4425=) c.10128T>C (p.Asp3376=) c.9732T>C (p.Asp3244=) | |
7 | g.152148685A>T | CA370091859 | KMT2C | c.1430T>A n.2374T>A c.13413T>A (p.Asp4471Glu) n.2542T>A n.8434T>A c.3815T>A c.10752T>A (p.Asp3584Glu) n.4872T>A c.3887T>A n.2008T>A n.1958T>A c.1659T>A (p.Asp553Glu) c.8139T>A (p.Asp2713Glu) c.13242T>A (p.Asp4414Glu) c.9029T>A c.3884T>A c.3818T>A n.7953T>A c.8142T>A (p.Asp2714Glu) c.12807T>A (p.Asp4269Glu) c.3819T>A n.2257T>A c.5923T>A c.3093T>A (p.Asp1031Glu) n.11124T>A c.*10762T>A (n.*10762T>A) c.13458T>A (p.Asp4486Glu) c.13455T>A (p.Asp4485Glu) c.13293T>A (p.Asp4431Glu) c.13386T>A (p.Asp4462Glu) c.13290T>A (p.Asp4430Glu) c.13410T>A (p.Asp4470Glu) c.13338T>A (p.Asp4446Glu) c.13305T>A (p.Asp4435Glu) c.13221T>A (p.Asp4407Glu) c.12543T>A (p.Asp4181Glu) c.11004T>A (p.Asp3668Glu) c.13425T>A (p.Asp4475Glu) c.13407T>A (p.Asp4469Glu) c.13383T>A (p.Asp4461Glu) c.13311T>A (p.Asp4437Glu) c.13275T>A (p.Asp4425Glu) c.10128T>A (p.Asp3376Glu) c.9732T>A (p.Asp3244Glu) | |
7 | g.152148686T>A | CA370091861 | KMT2C | c.1429A>T n.2373A>T c.13412A>T (p.Asp4471Val) n.2541A>T n.8433A>T c.3814A>T c.10751A>T (p.Asp3584Val) n.4871A>T c.3886A>T n.2007A>T n.1957A>T c.1658A>T (p.Asp553Val) c.8138A>T (p.Asp2713Val) c.13241A>T (p.Asp4414Val) c.9028A>T c.3883A>T c.3817A>T n.7952A>T c.8141A>T (p.Asp2714Val) c.12806A>T (p.Asp4269Val) c.3818A>T n.2256A>T c.5922A>T c.3092A>T (p.Asp1031Val) n.11123A>T c.*10761A>T (n.*10761A>T) c.13457A>T (p.Asp4486Val) c.13454A>T (p.Asp4485Val) c.13292A>T (p.Asp4431Val) c.13385A>T (p.Asp4462Val) c.13289A>T (p.Asp4430Val) c.13409A>T (p.Asp4470Val) c.13337A>T (p.Asp4446Val) c.13304A>T (p.Asp4435Val) c.13220A>T (p.Asp4407Val) c.12542A>T (p.Asp4181Val) c.11003A>T (p.Asp3668Val) c.13424A>T (p.Asp4475Val) c.13406A>T (p.Asp4469Val) c.13382A>T (p.Asp4461Val) c.13310A>T (p.Asp4437Val) c.13274A>T (p.Asp4425Val) c.10127A>T (p.Asp3376Val) c.9731A>T (p.Asp3244Val) | |
7 | g.152148686T>C | CA370091863 | KMT2C | c.1429A>G n.2373A>G c.13412A>G (p.Asp4471Gly) n.2541A>G n.8433A>G c.3814A>G c.10751A>G (p.Asp3584Gly) n.4871A>G c.3886A>G n.2007A>G n.1957A>G c.1658A>G (p.Asp553Gly) c.8138A>G (p.Asp2713Gly) c.13241A>G (p.Asp4414Gly) c.9028A>G c.3883A>G c.3817A>G n.7952A>G c.8141A>G (p.Asp2714Gly) c.12806A>G (p.Asp4269Gly) c.3818A>G n.2256A>G c.5922A>G c.3092A>G (p.Asp1031Gly) n.11123A>G c.*10761A>G (n.*10761A>G) c.13457A>G (p.Asp4486Gly) c.13454A>G (p.Asp4485Gly) c.13292A>G (p.Asp4431Gly) c.13385A>G (p.Asp4462Gly) c.13289A>G (p.Asp4430Gly) c.13409A>G (p.Asp4470Gly) c.13337A>G (p.Asp4446Gly) c.13304A>G (p.Asp4435Gly) c.13220A>G (p.Asp4407Gly) c.12542A>G (p.Asp4181Gly) c.11003A>G (p.Asp3668Gly) c.13424A>G (p.Asp4475Gly) c.13406A>G (p.Asp4469Gly) c.13382A>G (p.Asp4461Gly) c.13310A>G (p.Asp4437Gly) c.13274A>G (p.Asp4425Gly) c.10127A>G (p.Asp3376Gly) c.9731A>G (p.Asp3244Gly) | |
7 | g.152148686T>G | CA370091864 | KMT2C | c.1429A>C n.2373A>C c.13412A>C (p.Asp4471Ala) n.2541A>C n.8433A>C c.3814A>C c.10751A>C (p.Asp3584Ala) n.4871A>C c.3886A>C n.2007A>C n.1957A>C c.1658A>C (p.Asp553Ala) c.8138A>C (p.Asp2713Ala) c.13241A>C (p.Asp4414Ala) c.9028A>C c.3883A>C c.3817A>C n.7952A>C c.8141A>C (p.Asp2714Ala) c.12806A>C (p.Asp4269Ala) c.3818A>C n.2256A>C c.5922A>C c.3092A>C (p.Asp1031Ala) n.11123A>C c.*10761A>C (n.*10761A>C) c.13457A>C (p.Asp4486Ala) c.13454A>C (p.Asp4485Ala) c.13292A>C (p.Asp4431Ala) c.13385A>C (p.Asp4462Ala) c.13289A>C (p.Asp4430Ala) c.13409A>C (p.Asp4470Ala) c.13337A>C (p.Asp4446Ala) c.13304A>C (p.Asp4435Ala) c.13220A>C (p.Asp4407Ala) c.12542A>C (p.Asp4181Ala) c.11003A>C (p.Asp3668Ala) c.13424A>C (p.Asp4475Ala) c.13406A>C (p.Asp4469Ala) c.13382A>C (p.Asp4461Ala) c.13310A>C (p.Asp4437Ala) c.13274A>C (p.Asp4425Ala) c.10127A>C (p.Asp3376Ala) c.9731A>C (p.Asp3244Ala) | |
7 | g.152148687C>A | CA370091867 | KMT2C | c.1428G>T n.2372G>T c.13411G>T (p.Asp4471Tyr) n.2540G>T n.8432G>T c.3813G>T c.10750G>T (p.Asp3584Tyr) n.4870G>T c.3885G>T n.2006G>T n.1956G>T c.1657G>T (p.Asp553Tyr) c.8137G>T (p.Asp2713Tyr) c.13240G>T (p.Asp4414Tyr) c.9027G>T c.3882G>T c.3816G>T n.7951G>T c.8140G>T (p.Asp2714Tyr) c.12805G>T (p.Asp4269Tyr) c.3817G>T n.2255G>T c.5921G>T c.3091G>T (p.Asp1031Tyr) n.11122G>T c.*10760G>T (n.*10760G>T) c.13456G>T (p.Asp4486Tyr) c.13453G>T (p.Asp4485Tyr) c.13291G>T (p.Asp4431Tyr) c.13384G>T (p.Asp4462Tyr) c.13288G>T (p.Asp4430Tyr) c.13408G>T (p.Asp4470Tyr) c.13336G>T (p.Asp4446Tyr) c.13303G>T (p.Asp4435Tyr) c.13219G>T (p.Asp4407Tyr) c.12541G>T (p.Asp4181Tyr) c.11002G>T (p.Asp3668Tyr) c.13423G>T (p.Asp4475Tyr) c.13405G>T (p.Asp4469Tyr) c.13381G>T (p.Asp4461Tyr) c.13309G>T (p.Asp4437Tyr) c.13273G>T (p.Asp4425Tyr) c.10126G>T (p.Asp3376Tyr) c.9730G>T (p.Asp3244Tyr) | |
7 | g.152148687C>G | CA370091868 | KMT2C | c.1428G>C n.2372G>C c.13411G>C (p.Asp4471His) n.2540G>C n.8432G>C c.3813G>C c.10750G>C (p.Asp3584His) n.4870G>C c.3885G>C n.2006G>C n.1956G>C c.1657G>C (p.Asp553His) c.8137G>C (p.Asp2713His) c.13240G>C (p.Asp4414His) c.9027G>C c.3882G>C c.3816G>C n.7951G>C c.8140G>C (p.Asp2714His) c.12805G>C (p.Asp4269His) c.3817G>C n.2255G>C c.5921G>C c.3091G>C (p.Asp1031His) n.11122G>C c.*10760G>C (n.*10760G>C) c.13456G>C (p.Asp4486His) c.13453G>C (p.Asp4485His) c.13291G>C (p.Asp4431His) c.13384G>C (p.Asp4462His) c.13288G>C (p.Asp4430His) c.13408G>C (p.Asp4470His) c.13336G>C (p.Asp4446His) c.13303G>C (p.Asp4435His) c.13219G>C (p.Asp4407His) c.12541G>C (p.Asp4181His) c.11002G>C (p.Asp3668His) c.13423G>C (p.Asp4475His) c.13405G>C (p.Asp4469His) c.13381G>C (p.Asp4461His) c.13309G>C (p.Asp4437His) c.13273G>C (p.Asp4425His) c.10126G>C (p.Asp3376His) c.9730G>C (p.Asp3244His) | dbSNP |
7 | g.152148687C>T | CA370091869 | KMT2C | c.1428G>A n.2372G>A c.13411G>A (p.Asp4471Asn) n.2540G>A n.8432G>A c.3813G>A c.10750G>A (p.Asp3584Asn) n.4870G>A c.3885G>A n.2006G>A n.1956G>A c.1657G>A (p.Asp553Asn) c.8137G>A (p.Asp2713Asn) c.13240G>A (p.Asp4414Asn) c.9027G>A c.3882G>A c.3816G>A n.7951G>A c.8140G>A (p.Asp2714Asn) c.12805G>A (p.Asp4269Asn) c.3817G>A n.2255G>A c.5921G>A c.3091G>A (p.Asp1031Asn) n.11122G>A c.*10760G>A (n.*10760G>A) c.13456G>A (p.Asp4486Asn) c.13453G>A (p.Asp4485Asn) c.13291G>A (p.Asp4431Asn) c.13384G>A (p.Asp4462Asn) c.13288G>A (p.Asp4430Asn) c.13408G>A (p.Asp4470Asn) c.13336G>A (p.Asp4446Asn) c.13303G>A (p.Asp4435Asn) c.13219G>A (p.Asp4407Asn) c.12541G>A (p.Asp4181Asn) c.11002G>A (p.Asp3668Asn) c.13423G>A (p.Asp4475Asn) c.13405G>A (p.Asp4469Asn) c.13381G>A (p.Asp4461Asn) c.13309G>A (p.Asp4437Asn) c.13273G>A (p.Asp4425Asn) c.10126G>A (p.Asp3376Asn) c.9730G>A (p.Asp3244Asn) | dbSNP |
7 | g.152148688T>A | CA458884979 | KMT2C | c.1427A>T n.2371A>T c.13410A>T (p.Thr4470=) n.2539A>T n.8431A>T c.3812A>T c.10749A>T (p.Thr3583=) n.4869A>T c.3884A>T n.2005A>T n.1955A>T c.1656A>T (p.Thr552=) c.8136A>T (p.Thr2712=) c.13239A>T (p.Thr4413=) c.9026A>T c.3881A>T c.3815A>T n.7950A>T c.8139A>T (p.Thr2713=) c.12804A>T (p.Thr4268=) c.3816A>T n.2254A>T c.5920A>T c.3090A>T (p.Thr1030=) n.11121A>T c.*10759A>T (n.*10759A>T) c.13455A>T (p.Thr4485=) c.13452A>T (p.Thr4484=) c.13290A>T (p.Thr4430=) c.13383A>T (p.Thr4461=) c.13287A>T (p.Thr4429=) c.13407A>T (p.Thr4469=) c.13335A>T (p.Thr4445=) c.13302A>T (p.Thr4434=) c.13218A>T (p.Thr4406=) c.12540A>T (p.Thr4180=) c.11001A>T (p.Thr3667=) c.13422A>T (p.Thr4474=) c.13404A>T (p.Thr4468=) c.13380A>T (p.Thr4460=) c.13308A>T (p.Thr4436=) c.13272A>T (p.Thr4424=) c.10125A>T (p.Thr3375=) c.9729A>T (p.Thr3243=) | |
7 | g.152148688T>C | CA458884980 | KMT2C | c.1427A>G n.2371A>G c.13410A>G (p.Thr4470=) n.2539A>G n.8431A>G c.3812A>G c.10749A>G (p.Thr3583=) n.4869A>G c.3884A>G n.2005A>G n.1955A>G c.1656A>G (p.Thr552=) c.8136A>G (p.Thr2712=) c.13239A>G (p.Thr4413=) c.9026A>G c.3881A>G c.3815A>G n.7950A>G c.8139A>G (p.Thr2713=) c.12804A>G (p.Thr4268=) c.3816A>G n.2254A>G c.5920A>G c.3090A>G (p.Thr1030=) n.11121A>G c.*10759A>G (n.*10759A>G) c.13455A>G (p.Thr4485=) c.13452A>G (p.Thr4484=) c.13290A>G (p.Thr4430=) c.13383A>G (p.Thr4461=) c.13287A>G (p.Thr4429=) c.13407A>G (p.Thr4469=) c.13335A>G (p.Thr4445=) c.13302A>G (p.Thr4434=) c.13218A>G (p.Thr4406=) c.12540A>G (p.Thr4180=) c.11001A>G (p.Thr3667=) c.13422A>G (p.Thr4474=) c.13404A>G (p.Thr4468=) c.13380A>G (p.Thr4460=) c.13308A>G (p.Thr4436=) c.13272A>G (p.Thr4424=) c.10125A>G (p.Thr3375=) c.9729A>G (p.Thr3243=) | dbSNP gnomAD v3 gnomAD v4 |