Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.9475673A= | CA1344742630 | SETD5 | n.2866A= c.4007A= (p.His1336=) n.4900A= n.2291A= n.6708A= n.6153A= c.3911A= (p.His1304=) c.*4057A= (n.*4057A=) c.*3980A= (n.*3980A=) c.*4285A= (n.*4285A=) c.*4016A= (n.*4016A=) c.3617A= (p.His1206=) c.2722+517A= c.3968A= (p.His1323=) c.2947A= n.1042A= n.3252A= n.4075A= c.4085A= (p.His1362=) c.4064A= (p.His1355=) c.4046A= (p.His1349=) c.4028A= (p.His1343=) c.3989A= (p.His1330=) c.3950A= (p.His1317=) c.3674A= (p.His1225=) c.3635A= (p.His1212=) c.4025A= (p.His1342=) c.3932A= (p.His1311=) c.3407A= (p.His1136=) c.3722A= (p.His1241=) n.8294A= | |
3 | g.9475673A>C | CA351692362 | SETD5 | n.2866A>C c.4007A>C (p.His1336Pro) n.4900A>C n.2291A>C n.6708A>C n.6153A>C c.3911A>C (p.His1304Pro) c.*4057A>C (n.*4057A>C) c.*3980A>C (n.*3980A>C) c.*4285A>C (n.*4285A>C) c.*4016A>C (n.*4016A>C) c.3617A>C (p.His1206Pro) c.2722+517A>C c.3968A>C (p.His1323Pro) c.2947A>C n.1042A>C n.3252A>C n.4075A>C c.4085A>C (p.His1362Pro) c.4064A>C (p.His1355Pro) c.4046A>C (p.His1349Pro) c.4028A>C (p.His1343Pro) c.3989A>C (p.His1330Pro) c.3950A>C (p.His1317Pro) c.3674A>C (p.His1225Pro) c.3635A>C (p.His1212Pro) c.4025A>C (p.His1342Pro) c.3932A>C (p.His1311Pro) c.3407A>C (p.His1136Pro) c.3722A>C (p.His1241Pro) n.8294A>C | dbSNP |
3 | g.9475673A>G | CA351692363 | SETD5 | n.2866A>G c.4007A>G (p.His1336Arg) n.4900A>G n.2291A>G n.6708A>G n.6153A>G c.3911A>G (p.His1304Arg) c.*4057A>G (n.*4057A>G) c.*3980A>G (n.*3980A>G) c.*4285A>G (n.*4285A>G) c.*4016A>G (n.*4016A>G) c.3617A>G (p.His1206Arg) c.2722+517A>G c.3968A>G (p.His1323Arg) c.2947A>G n.1042A>G n.3252A>G n.4075A>G c.4085A>G (p.His1362Arg) c.4064A>G (p.His1355Arg) c.4046A>G (p.His1349Arg) c.4028A>G (p.His1343Arg) c.3989A>G (p.His1330Arg) c.3950A>G (p.His1317Arg) c.3674A>G (p.His1225Arg) c.3635A>G (p.His1212Arg) c.4025A>G (p.His1342Arg) c.3932A>G (p.His1311Arg) c.3407A>G (p.His1136Arg) c.3722A>G (p.His1241Arg) n.8294A>G | |
3 | g.9475673A>T | CA351692366 | SETD5 | n.2866A>T c.4007A>T (p.His1336Leu) n.4900A>T n.2291A>T n.6708A>T n.6153A>T c.3911A>T (p.His1304Leu) c.*4057A>T (n.*4057A>T) c.*3980A>T (n.*3980A>T) c.*4285A>T (n.*4285A>T) c.*4016A>T (n.*4016A>T) c.3617A>T (p.His1206Leu) c.2722+517A>T c.3968A>T (p.His1323Leu) c.2947A>T n.1042A>T n.3252A>T n.4075A>T c.4085A>T (p.His1362Leu) c.4064A>T (p.His1355Leu) c.4046A>T (p.His1349Leu) c.4028A>T (p.His1343Leu) c.3989A>T (p.His1330Leu) c.3950A>T (p.His1317Leu) c.3674A>T (p.His1225Leu) c.3635A>T (p.His1212Leu) c.4025A>T (p.His1342Leu) c.3932A>T (p.His1311Leu) c.3407A>T (p.His1136Leu) c.3722A>T (p.His1241Leu) n.8294A>T | |
3 | g.9475674C>A | CA351692373 | SETD5 | n.2867C>A c.4008C>A (p.His1336Gln) n.4901C>A n.2292C>A n.6709C>A n.6154C>A c.3912C>A (p.His1304Gln) c.*4058C>A (n.*4058C>A) c.*3981C>A (n.*3981C>A) c.*4286C>A (n.*4286C>A) c.*4017C>A (n.*4017C>A) c.3618C>A (p.His1206Gln) c.2722+518C>A c.3969C>A (p.His1323Gln) c.2948C>A n.1043C>A n.3253C>A n.4076C>A c.4086C>A (p.His1362Gln) c.4065C>A (p.His1355Gln) c.4047C>A (p.His1349Gln) c.4029C>A (p.His1343Gln) c.3990C>A (p.His1330Gln) c.3951C>A (p.His1317Gln) c.3675C>A (p.His1225Gln) c.3636C>A (p.His1212Gln) c.4026C>A (p.His1342Gln) c.3933C>A (p.His1311Gln) c.3408C>A (p.His1136Gln) c.3723C>A (p.His1241Gln) n.8295C>A | |
3 | g.9475674C>G | CA351692375 | SETD5 | n.2867C>G c.4008C>G (p.His1336Gln) n.4901C>G n.2292C>G n.6709C>G n.6154C>G c.3912C>G (p.His1304Gln) c.*4058C>G (n.*4058C>G) c.*3981C>G (n.*3981C>G) c.*4286C>G (n.*4286C>G) c.*4017C>G (n.*4017C>G) c.3618C>G (p.His1206Gln) c.2722+518C>G c.3969C>G (p.His1323Gln) c.2948C>G n.1043C>G n.3253C>G n.4076C>G c.4086C>G (p.His1362Gln) c.4065C>G (p.His1355Gln) c.4047C>G (p.His1349Gln) c.4029C>G (p.His1343Gln) c.3990C>G (p.His1330Gln) c.3951C>G (p.His1317Gln) c.3675C>G (p.His1225Gln) c.3636C>G (p.His1212Gln) c.4026C>G (p.His1342Gln) c.3933C>G (p.His1311Gln) c.3408C>G (p.His1136Gln) c.3723C>G (p.His1241Gln) n.8295C>G | |
3 | g.9475674C>T | CA432528847 | SETD5 | n.2867C>T c.4008C>T (p.His1336=) n.4901C>T n.2292C>T n.6709C>T n.6154C>T c.3912C>T (p.His1304=) c.*4058C>T (n.*4058C>T) c.*3981C>T (n.*3981C>T) c.*4286C>T (n.*4286C>T) c.*4017C>T (n.*4017C>T) c.3618C>T (p.His1206=) c.2722+518C>T c.3969C>T (p.His1323=) c.2948C>T n.1043C>T n.3253C>T n.4076C>T c.4086C>T (p.His1362=) c.4065C>T (p.His1355=) c.4047C>T (p.His1349=) c.4029C>T (p.His1343=) c.3990C>T (p.His1330=) c.3951C>T (p.His1317=) c.3675C>T (p.His1225=) c.3636C>T (p.His1212=) c.4026C>T (p.His1342=) c.3933C>T (p.His1311=) c.3408C>T (p.His1136=) c.3723C>T (p.His1241=) n.8295C>T | gnomAD v4 |
3 | g.9475675C>A | CA351692429 | SETD5 | n.2868C>A c.4009C>A (p.Pro1337Thr) n.4902C>A n.2293C>A n.6155C>A c.3913C>A (p.Pro1305Thr) c.*4059C>A (n.*4059C>A) c.*3982C>A (n.*3982C>A) c.*4287C>A (n.*4287C>A) c.*4018C>A (n.*4018C>A) c.3619C>A (p.Pro1207Thr) c.2722+519C>A c.3970C>A (p.Pro1324Thr) c.2949C>A n.1044C>A n.3254C>A n.4077C>A c.4087C>A (p.Pro1363Thr) c.4066C>A (p.Pro1356Thr) c.4048C>A (p.Pro1350Thr) c.4030C>A (p.Pro1344Thr) c.3991C>A (p.Pro1331Thr) c.3952C>A (p.Pro1318Thr) c.3676C>A (p.Pro1226Thr) c.3637C>A (p.Pro1213Thr) c.4027C>A (p.Pro1343Thr) c.3934C>A (p.Pro1312Thr) c.3409C>A (p.Pro1137Thr) c.3724C>A (p.Pro1242Thr) n.8296C>A | |
3 | g.9475675C>G | CA351692425 | SETD5 | n.2868C>G c.4009C>G (p.Pro1337Ala) n.4902C>G n.2293C>G n.6155C>G c.3913C>G (p.Pro1305Ala) c.*4059C>G (n.*4059C>G) c.*3982C>G (n.*3982C>G) c.*4287C>G (n.*4287C>G) c.*4018C>G (n.*4018C>G) c.3619C>G (p.Pro1207Ala) c.2722+519C>G c.3970C>G (p.Pro1324Ala) c.2949C>G n.1044C>G n.3254C>G n.4077C>G c.4087C>G (p.Pro1363Ala) c.4066C>G (p.Pro1356Ala) c.4048C>G (p.Pro1350Ala) c.4030C>G (p.Pro1344Ala) c.3991C>G (p.Pro1331Ala) c.3952C>G (p.Pro1318Ala) c.3676C>G (p.Pro1226Ala) c.3637C>G (p.Pro1213Ala) c.4027C>G (p.Pro1343Ala) c.3934C>G (p.Pro1312Ala) c.3409C>G (p.Pro1137Ala) c.3724C>G (p.Pro1242Ala) n.8296C>G | |
3 | g.9475675C>T | CA351692379 | SETD5 | n.2868C>T c.4009C>T (p.Pro1337Ser) n.4902C>T n.2293C>T n.6155C>T c.3913C>T (p.Pro1305Ser) c.*4059C>T (n.*4059C>T) c.*3982C>T (n.*3982C>T) c.*4287C>T (n.*4287C>T) c.*4018C>T (n.*4018C>T) c.3619C>T (p.Pro1207Ser) c.2722+519C>T c.3970C>T (p.Pro1324Ser) c.2949C>T n.1044C>T n.3254C>T n.4077C>T c.4087C>T (p.Pro1363Ser) c.4066C>T (p.Pro1356Ser) c.4048C>T (p.Pro1350Ser) c.4030C>T (p.Pro1344Ser) c.3991C>T (p.Pro1331Ser) c.3952C>T (p.Pro1318Ser) c.3676C>T (p.Pro1226Ser) c.3637C>T (p.Pro1213Ser) c.4027C>T (p.Pro1343Ser) c.3934C>T (p.Pro1312Ser) c.3409C>T (p.Pro1137Ser) c.3724C>T (p.Pro1242Ser) n.8296C>T | gnomAD v4 |
3 | g.9475676C>A | CA351692441 | SETD5 | n.2869C>A c.4010C>A (p.Pro1337His) n.4903C>A n.2294C>A n.6156C>A c.3914C>A (p.Pro1305His) c.*4060C>A (n.*4060C>A) c.*3983C>A (n.*3983C>A) c.*4288C>A (n.*4288C>A) c.*4019C>A (n.*4019C>A) c.3620C>A (p.Pro1207His) c.2722+520C>A c.3971C>A (p.Pro1324His) c.2950C>A n.1045C>A n.3255C>A n.4078C>A c.4088C>A (p.Pro1363His) c.4067C>A (p.Pro1356His) c.4049C>A (p.Pro1350His) c.4031C>A (p.Pro1344His) c.3992C>A (p.Pro1331His) c.3953C>A (p.Pro1318His) c.3677C>A (p.Pro1226His) c.3638C>A (p.Pro1213His) c.4028C>A (p.Pro1343His) c.3935C>A (p.Pro1312His) c.3410C>A (p.Pro1137His) c.3725C>A (p.Pro1242His) n.8297C>A | |
3 | g.9475676C>G | CA351692447 | SETD5 | n.2869C>G c.4010C>G (p.Pro1337Arg) n.4903C>G n.2294C>G n.6156C>G c.3914C>G (p.Pro1305Arg) c.*4060C>G (n.*4060C>G) c.*3983C>G (n.*3983C>G) c.*4288C>G (n.*4288C>G) c.*4019C>G (n.*4019C>G) c.3620C>G (p.Pro1207Arg) c.2722+520C>G c.3971C>G (p.Pro1324Arg) c.2950C>G n.1045C>G n.3255C>G n.4078C>G c.4088C>G (p.Pro1363Arg) c.4067C>G (p.Pro1356Arg) c.4049C>G (p.Pro1350Arg) c.4031C>G (p.Pro1344Arg) c.3992C>G (p.Pro1331Arg) c.3953C>G (p.Pro1318Arg) c.3677C>G (p.Pro1226Arg) c.3638C>G (p.Pro1213Arg) c.4028C>G (p.Pro1343Arg) c.3935C>G (p.Pro1312Arg) c.3410C>G (p.Pro1137Arg) c.3725C>G (p.Pro1242Arg) n.8297C>G | |
3 | g.9475676C>T | CA351692474 | SETD5 | n.2869C>T c.4010C>T (p.Pro1337Leu) n.4903C>T n.2294C>T n.6156C>T c.3914C>T (p.Pro1305Leu) c.*4060C>T (n.*4060C>T) c.*3983C>T (n.*3983C>T) c.*4288C>T (n.*4288C>T) c.*4019C>T (n.*4019C>T) c.3620C>T (p.Pro1207Leu) c.2722+520C>T c.3971C>T (p.Pro1324Leu) c.2950C>T n.1045C>T n.3255C>T n.4078C>T c.4088C>T (p.Pro1363Leu) c.4067C>T (p.Pro1356Leu) c.4049C>T (p.Pro1350Leu) c.4031C>T (p.Pro1344Leu) c.3992C>T (p.Pro1331Leu) c.3953C>T (p.Pro1318Leu) c.3677C>T (p.Pro1226Leu) c.3638C>T (p.Pro1213Leu) c.4028C>T (p.Pro1343Leu) c.3935C>T (p.Pro1312Leu) c.3410C>T (p.Pro1137Leu) c.3725C>T (p.Pro1242Leu) n.8297C>T | |
3 | g.9475677T>A | CA432528860 | SETD5 | n.2870T>A c.4011T>A (p.Pro1337=) n.4904T>A n.2295T>A n.6157T>A c.3915T>A (p.Pro1305=) c.*4061T>A (n.*4061T>A) c.*3984T>A (n.*3984T>A) c.*4289T>A (n.*4289T>A) c.*4020T>A (n.*4020T>A) c.3621T>A (p.Pro1207=) c.2722+521T>A c.3972T>A (p.Pro1324=) c.2951T>A n.1046T>A n.3256T>A n.4079T>A c.4089T>A (p.Pro1363=) c.4068T>A (p.Pro1356=) c.4050T>A (p.Pro1350=) c.4032T>A (p.Pro1344=) c.3993T>A (p.Pro1331=) c.3954T>A (p.Pro1318=) c.3678T>A (p.Pro1226=) c.3639T>A (p.Pro1213=) c.4029T>A (p.Pro1343=) c.3936T>A (p.Pro1312=) c.3411T>A (p.Pro1137=) c.3726T>A (p.Pro1242=) n.8298T>A | |
3 | g.9475677T>C | CA432528858 | SETD5 | n.2870T>C c.4011T>C (p.Pro1337=) n.4904T>C n.2295T>C n.6157T>C c.3915T>C (p.Pro1305=) c.*4061T>C (n.*4061T>C) c.*3984T>C (n.*3984T>C) c.*4289T>C (n.*4289T>C) c.*4020T>C (n.*4020T>C) c.3621T>C (p.Pro1207=) c.2722+521T>C c.3972T>C (p.Pro1324=) c.2951T>C n.1046T>C n.3256T>C n.4079T>C c.4089T>C (p.Pro1363=) c.4068T>C (p.Pro1356=) c.4050T>C (p.Pro1350=) c.4032T>C (p.Pro1344=) c.3993T>C (p.Pro1331=) c.3954T>C (p.Pro1318=) c.3678T>C (p.Pro1226=) c.3639T>C (p.Pro1213=) c.4029T>C (p.Pro1343=) c.3936T>C (p.Pro1312=) c.3411T>C (p.Pro1137=) c.3726T>C (p.Pro1242=) n.8298T>C | gnomAD v4 |
3 | g.9475677T>G | CA432528856 | SETD5 | n.2870T>G c.4011T>G (p.Pro1337=) n.4904T>G n.2295T>G n.6157T>G c.3915T>G (p.Pro1305=) c.*4061T>G (n.*4061T>G) c.*3984T>G (n.*3984T>G) c.*4289T>G (n.*4289T>G) c.*4020T>G (n.*4020T>G) c.3621T>G (p.Pro1207=) c.2722+521T>G c.3972T>G (p.Pro1324=) c.2951T>G n.1046T>G n.3256T>G n.4079T>G c.4089T>G (p.Pro1363=) c.4068T>G (p.Pro1356=) c.4050T>G (p.Pro1350=) c.4032T>G (p.Pro1344=) c.3993T>G (p.Pro1331=) c.3954T>G (p.Pro1318=) c.3678T>G (p.Pro1226=) c.3639T>G (p.Pro1213=) c.4029T>G (p.Pro1343=) c.3936T>G (p.Pro1312=) c.3411T>G (p.Pro1137=) c.3726T>G (p.Pro1242=) n.8298T>G | |
3 | g.9475678G>A | CA69951970 | SETD5 | n.2871G>A c.4012G>A (p.Val1338Met) n.4905G>A n.2296G>A n.6158G>A c.3916G>A (p.Val1306Met) c.*4062G>A (n.*4062G>A) c.*3985G>A (n.*3985G>A) c.*4290G>A (n.*4290G>A) c.*4021G>A (n.*4021G>A) c.3622G>A (p.Val1208Met) c.2722+522G>A c.3973G>A (p.Val1325Met) c.2952G>A n.1047G>A n.3257G>A n.4080G>A c.4090G>A (p.Val1364Met) c.4069G>A (p.Val1357Met) c.4051G>A (p.Val1351Met) c.4033G>A (p.Val1345Met) c.3994G>A (p.Val1332Met) c.3955G>A (p.Val1319Met) c.3679G>A (p.Val1227Met) c.3640G>A (p.Val1214Met) c.4030G>A (p.Val1344Met) c.3937G>A (p.Val1313Met) c.3412G>A (p.Val1138Met) c.3727G>A (p.Val1243Met) n.8299G>A | dbSNP gnomAD v4 |
3 | g.9475678G>C | CA351692502 | SETD5 | n.2871G>C c.4012G>C (p.Val1338Leu) n.4905G>C n.2296G>C n.6158G>C c.3916G>C (p.Val1306Leu) c.*4062G>C (n.*4062G>C) c.*3985G>C (n.*3985G>C) c.*4290G>C (n.*4290G>C) c.*4021G>C (n.*4021G>C) c.3622G>C (p.Val1208Leu) c.2722+522G>C c.3973G>C (p.Val1325Leu) c.2952G>C n.1047G>C n.3257G>C n.4080G>C c.4090G>C (p.Val1364Leu) c.4069G>C (p.Val1357Leu) c.4051G>C (p.Val1351Leu) c.4033G>C (p.Val1345Leu) c.3994G>C (p.Val1332Leu) c.3955G>C (p.Val1319Leu) c.3679G>C (p.Val1227Leu) c.3640G>C (p.Val1214Leu) c.4030G>C (p.Val1344Leu) c.3937G>C (p.Val1313Leu) c.3412G>C (p.Val1138Leu) c.3727G>C (p.Val1243Leu) n.8299G>C | |
3 | g.9475678G= | CA1344742636 | SETD5 | n.2871G= c.4012G= (p.Val1338=) n.4905G= n.2296G= n.6158G= c.3916G= (p.Val1306=) c.*4062G= (n.*4062G=) c.*3985G= (n.*3985G=) c.*4290G= (n.*4290G=) c.*4021G= (n.*4021G=) c.3622G= (p.Val1208=) c.2722+522G= c.3973G= (p.Val1325=) c.2952G= n.1047G= n.3257G= n.4080G= c.4090G= (p.Val1364=) c.4069G= (p.Val1357=) c.4051G= (p.Val1351=) c.4033G= (p.Val1345=) c.3994G= (p.Val1332=) c.3955G= (p.Val1319=) c.3679G= (p.Val1227=) c.3640G= (p.Val1214=) c.4030G= (p.Val1344=) c.3937G= (p.Val1313=) c.3412G= (p.Val1138=) c.3727G= (p.Val1243=) n.8299G= | |
3 | g.9475678G>T | CA351692504 | SETD5 | n.2871G>T c.4012G>T (p.Val1338Leu) n.4905G>T n.2296G>T n.6158G>T c.3916G>T (p.Val1306Leu) c.*4062G>T (n.*4062G>T) c.*3985G>T (n.*3985G>T) c.*4290G>T (n.*4290G>T) c.*4021G>T (n.*4021G>T) c.3622G>T (p.Val1208Leu) c.2722+522G>T c.3973G>T (p.Val1325Leu) c.2952G>T n.1047G>T n.3257G>T n.4080G>T c.4090G>T (p.Val1364Leu) c.4069G>T (p.Val1357Leu) c.4051G>T (p.Val1351Leu) c.4033G>T (p.Val1345Leu) c.3994G>T (p.Val1332Leu) c.3955G>T (p.Val1319Leu) c.3679G>T (p.Val1227Leu) c.3640G>T (p.Val1214Leu) c.4030G>T (p.Val1344Leu) c.3937G>T (p.Val1313Leu) c.3412G>T (p.Val1138Leu) c.3727G>T (p.Val1243Leu) n.8299G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.9475679T>A | CA351692521 | SETD5 | n.2872T>A c.4013T>A (p.Val1338Glu) n.4906T>A n.2297T>A n.6159T>A c.3917T>A (p.Val1306Glu) c.*4063T>A (n.*4063T>A) c.*3986T>A (n.*3986T>A) c.*4291T>A (n.*4291T>A) c.*4022T>A (n.*4022T>A) c.3623T>A (p.Val1208Glu) c.2722+523T>A c.3974T>A (p.Val1325Glu) c.2953T>A n.1048T>A n.3258T>A n.4081T>A c.4091T>A (p.Val1364Glu) c.4070T>A (p.Val1357Glu) c.4052T>A (p.Val1351Glu) c.4034T>A (p.Val1345Glu) c.3995T>A (p.Val1332Glu) c.3956T>A (p.Val1319Glu) c.3680T>A (p.Val1227Glu) c.3641T>A (p.Val1214Glu) c.4031T>A (p.Val1344Glu) c.3938T>A (p.Val1313Glu) c.3413T>A (p.Val1138Glu) c.3728T>A (p.Val1243Glu) n.8300T>A | |
3 | g.9475679T>C | CA351692539 | SETD5 | n.2872T>C c.4013T>C (p.Val1338Ala) n.4906T>C n.2297T>C n.6159T>C c.3917T>C (p.Val1306Ala) c.*4063T>C (n.*4063T>C) c.*3986T>C (n.*3986T>C) c.*4291T>C (n.*4291T>C) c.*4022T>C (n.*4022T>C) c.3623T>C (p.Val1208Ala) c.2722+523T>C c.3974T>C (p.Val1325Ala) c.2953T>C n.1048T>C n.3258T>C n.4081T>C c.4091T>C (p.Val1364Ala) c.4070T>C (p.Val1357Ala) c.4052T>C (p.Val1351Ala) c.4034T>C (p.Val1345Ala) c.3995T>C (p.Val1332Ala) c.3956T>C (p.Val1319Ala) c.3680T>C (p.Val1227Ala) c.3641T>C (p.Val1214Ala) c.4031T>C (p.Val1344Ala) c.3938T>C (p.Val1313Ala) c.3413T>C (p.Val1138Ala) c.3728T>C (p.Val1243Ala) n.8300T>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.9475679T>G | CA351692543 | SETD5 | n.2872T>G c.4013T>G (p.Val1338Gly) n.4906T>G n.2297T>G n.6159T>G c.3917T>G (p.Val1306Gly) c.*4063T>G (n.*4063T>G) c.*3986T>G (n.*3986T>G) c.*4291T>G (n.*4291T>G) c.*4022T>G (n.*4022T>G) c.3623T>G (p.Val1208Gly) c.2722+523T>G c.3974T>G (p.Val1325Gly) c.2953T>G n.1048T>G n.3258T>G n.4081T>G c.4091T>G (p.Val1364Gly) c.4070T>G (p.Val1357Gly) c.4052T>G (p.Val1351Gly) c.4034T>G (p.Val1345Gly) c.3995T>G (p.Val1332Gly) c.3956T>G (p.Val1319Gly) c.3680T>G (p.Val1227Gly) c.3641T>G (p.Val1214Gly) c.4031T>G (p.Val1344Gly) c.3938T>G (p.Val1313Gly) c.3413T>G (p.Val1138Gly) c.3728T>G (p.Val1243Gly) n.8300T>G | |
3 | g.9475679T= | CA1344742638 | SETD5 | n.2872T= c.4013T= (p.Val1338=) n.4906T= n.2297T= n.6159T= c.3917T= (p.Val1306=) c.*4063T= (n.*4063T=) c.*3986T= (n.*3986T=) c.*4291T= (n.*4291T=) c.*4022T= (n.*4022T=) c.3623T= (p.Val1208=) c.2722+523T= c.3974T= (p.Val1325=) c.2953T= n.1048T= n.3258T= n.4081T= c.4091T= (p.Val1364=) c.4070T= (p.Val1357=) c.4052T= (p.Val1351=) c.4034T= (p.Val1345=) c.3995T= (p.Val1332=) c.3956T= (p.Val1319=) c.3680T= (p.Val1227=) c.3641T= (p.Val1214=) c.4031T= (p.Val1344=) c.3938T= (p.Val1313=) c.3413T= (p.Val1138=) c.3728T= (p.Val1243=) n.8300T= | |
3 | g.9475680G>A | CA432528864 | SETD5 | n.2873G>A c.4014G>A (p.Val1338=) n.4907G>A n.2298G>A n.6160G>A c.3918G>A (p.Val1306=) c.*4064G>A (n.*4064G>A) c.*3987G>A (n.*3987G>A) c.*4292G>A (n.*4292G>A) c.*4023G>A (n.*4023G>A) c.3624G>A (p.Val1208=) c.2722+524G>A c.3975G>A (p.Val1325=) c.2954G>A n.1049G>A n.3259G>A n.4082G>A c.4092G>A (p.Val1364=) c.4071G>A (p.Val1357=) c.4053G>A (p.Val1351=) c.4035G>A (p.Val1345=) c.3996G>A (p.Val1332=) c.3957G>A (p.Val1319=) c.3681G>A (p.Val1227=) c.3642G>A (p.Val1214=) c.4032G>A (p.Val1344=) c.3939G>A (p.Val1313=) c.3414G>A (p.Val1138=) c.3729G>A (p.Val1243=) n.8301G>A | |
3 | g.9475680G>C | CA432528871 | SETD5 | n.2873G>C c.4014G>C (p.Val1338=) n.4907G>C n.2298G>C n.6160G>C c.3918G>C (p.Val1306=) c.*4064G>C (n.*4064G>C) c.*3987G>C (n.*3987G>C) c.*4292G>C (n.*4292G>C) c.*4023G>C (n.*4023G>C) c.3624G>C (p.Val1208=) c.2722+524G>C c.3975G>C (p.Val1325=) c.2954G>C n.1049G>C n.3259G>C n.4082G>C c.4092G>C (p.Val1364=) c.4071G>C (p.Val1357=) c.4053G>C (p.Val1351=) c.4035G>C (p.Val1345=) c.3996G>C (p.Val1332=) c.3957G>C (p.Val1319=) c.3681G>C (p.Val1227=) c.3642G>C (p.Val1214=) c.4032G>C (p.Val1344=) c.3939G>C (p.Val1313=) c.3414G>C (p.Val1138=) c.3729G>C (p.Val1243=) n.8301G>C | |
3 | g.9475680G>T | CA432528868 | SETD5 | n.2873G>T c.4014G>T (p.Val1338=) n.4907G>T n.2298G>T n.6160G>T c.3918G>T (p.Val1306=) c.*4064G>T (n.*4064G>T) c.*3987G>T (n.*3987G>T) c.*4292G>T (n.*4292G>T) c.*4023G>T (n.*4023G>T) c.3624G>T (p.Val1208=) c.2722+524G>T c.3975G>T (p.Val1325=) c.2954G>T n.1049G>T n.3259G>T n.4082G>T c.4092G>T (p.Val1364=) c.4071G>T (p.Val1357=) c.4053G>T (p.Val1351=) c.4035G>T (p.Val1345=) c.3996G>T (p.Val1332=) c.3957G>T (p.Val1319=) c.3681G>T (p.Val1227=) c.3642G>T (p.Val1214=) c.4032G>T (p.Val1344=) c.3939G>T (p.Val1313=) c.3414G>T (p.Val1138=) c.3729G>T (p.Val1243=) n.8301G>T | |
3 | g.9475681T>A | CA351692547 | SETD5 | n.2874T>A c.4015T>A (p.Ser1339Thr) n.4908T>A n.2299T>A n.6161T>A c.3919T>A (p.Ser1307Thr) c.*4065T>A (n.*4065T>A) c.*3988T>A (n.*3988T>A) c.*4293T>A (n.*4293T>A) c.*4024T>A (n.*4024T>A) c.3625T>A (p.Ser1209Thr) c.2722+525T>A c.3976T>A (p.Ser1326Thr) c.2955T>A n.1050T>A n.3260T>A n.4083T>A c.4093T>A (p.Ser1365Thr) c.4072T>A (p.Ser1358Thr) c.4054T>A (p.Ser1352Thr) c.4036T>A (p.Ser1346Thr) c.3997T>A (p.Ser1333Thr) c.3958T>A (p.Ser1320Thr) c.3682T>A (p.Ser1228Thr) c.3643T>A (p.Ser1215Thr) c.4033T>A (p.Ser1345Thr) c.3940T>A (p.Ser1314Thr) c.3415T>A (p.Ser1139Thr) c.3730T>A (p.Ser1244Thr) n.8302T>A | |
3 | g.9475681T>C | CA2239830 | SETD5 | n.2874T>C c.4015T>C (p.Ser1339Pro) n.4908T>C n.2299T>C n.6161T>C c.3919T>C (p.Ser1307Pro) c.*4065T>C (n.*4065T>C) c.*3988T>C (n.*3988T>C) c.*4293T>C (n.*4293T>C) c.*4024T>C (n.*4024T>C) c.3625T>C (p.Ser1209Pro) c.2722+525T>C c.3976T>C (p.Ser1326Pro) c.2955T>C n.1050T>C n.3260T>C n.4083T>C c.4093T>C (p.Ser1365Pro) c.4072T>C (p.Ser1358Pro) c.4054T>C (p.Ser1352Pro) c.4036T>C (p.Ser1346Pro) c.3997T>C (p.Ser1333Pro) c.3958T>C (p.Ser1320Pro) c.3682T>C (p.Ser1228Pro) c.3643T>C (p.Ser1215Pro) c.4033T>C (p.Ser1345Pro) c.3940T>C (p.Ser1314Pro) c.3415T>C (p.Ser1139Pro) c.3730T>C (p.Ser1244Pro) n.8302T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475681T>G | CA351692557 | SETD5 | n.2874T>G c.4015T>G (p.Ser1339Ala) n.4908T>G n.2299T>G n.6161T>G c.3919T>G (p.Ser1307Ala) c.*4065T>G (n.*4065T>G) c.*3988T>G (n.*3988T>G) c.*4293T>G (n.*4293T>G) c.*4024T>G (n.*4024T>G) c.3625T>G (p.Ser1209Ala) c.2722+525T>G c.3976T>G (p.Ser1326Ala) c.2955T>G n.1050T>G n.3260T>G n.4083T>G c.4093T>G (p.Ser1365Ala) c.4072T>G (p.Ser1358Ala) c.4054T>G (p.Ser1352Ala) c.4036T>G (p.Ser1346Ala) c.3997T>G (p.Ser1333Ala) c.3958T>G (p.Ser1320Ala) c.3682T>G (p.Ser1228Ala) c.3643T>G (p.Ser1215Ala) c.4033T>G (p.Ser1345Ala) c.3940T>G (p.Ser1314Ala) c.3415T>G (p.Ser1139Ala) c.3730T>G (p.Ser1244Ala) n.8302T>G | |
3 | g.9475681T= | CA1344742641 | SETD5 | n.2874T= c.4015T= (p.Ser1339=) n.4908T= n.2299T= n.6161T= c.3919T= (p.Ser1307=) c.*4065T= (n.*4065T=) c.*3988T= (n.*3988T=) c.*4293T= (n.*4293T=) c.*4024T= (n.*4024T=) c.3625T= (p.Ser1209=) c.2722+525T= c.3976T= (p.Ser1326=) c.2955T= n.1050T= n.3260T= n.4083T= c.4093T= (p.Ser1365=) c.4072T= (p.Ser1358=) c.4054T= (p.Ser1352=) c.4036T= (p.Ser1346=) c.3997T= (p.Ser1333=) c.3958T= (p.Ser1320=) c.3682T= (p.Ser1228=) c.3643T= (p.Ser1215=) c.4033T= (p.Ser1345=) c.3940T= (p.Ser1314=) c.3415T= (p.Ser1139=) c.3730T= (p.Ser1244=) n.8302T= | |
3 | g.9475682C>A | CA351692589 | SETD5 | n.2875C>A c.4016C>A (p.Ser1339Tyr) n.4909C>A n.2300C>A n.6162C>A c.3920C>A (p.Ser1307Tyr) c.*4066C>A (n.*4066C>A) c.*3989C>A (n.*3989C>A) c.*4294C>A (n.*4294C>A) c.*4025C>A (n.*4025C>A) c.3626C>A (p.Ser1209Tyr) c.2722+526C>A c.3977C>A (p.Ser1326Tyr) c.2956C>A n.1051C>A n.3261C>A n.4084C>A c.4094C>A (p.Ser1365Tyr) c.4073C>A (p.Ser1358Tyr) c.4055C>A (p.Ser1352Tyr) c.4037C>A (p.Ser1346Tyr) c.3998C>A (p.Ser1333Tyr) c.3959C>A (p.Ser1320Tyr) c.3683C>A (p.Ser1228Tyr) c.3644C>A (p.Ser1215Tyr) c.4034C>A (p.Ser1345Tyr) c.3941C>A (p.Ser1314Tyr) c.3416C>A (p.Ser1139Tyr) c.3731C>A (p.Ser1244Tyr) n.8303C>A | |
3 | g.9475682C>G | CA351692586 | SETD5 | n.2875C>G c.4016C>G (p.Ser1339Cys) n.4909C>G n.2300C>G n.6162C>G c.3920C>G (p.Ser1307Cys) c.*4066C>G (n.*4066C>G) c.*3989C>G (n.*3989C>G) c.*4294C>G (n.*4294C>G) c.*4025C>G (n.*4025C>G) c.3626C>G (p.Ser1209Cys) c.2722+526C>G c.3977C>G (p.Ser1326Cys) c.2956C>G n.1051C>G n.3261C>G n.4084C>G c.4094C>G (p.Ser1365Cys) c.4073C>G (p.Ser1358Cys) c.4055C>G (p.Ser1352Cys) c.4037C>G (p.Ser1346Cys) c.3998C>G (p.Ser1333Cys) c.3959C>G (p.Ser1320Cys) c.3683C>G (p.Ser1228Cys) c.3644C>G (p.Ser1215Cys) c.4034C>G (p.Ser1345Cys) c.3941C>G (p.Ser1314Cys) c.3416C>G (p.Ser1139Cys) c.3731C>G (p.Ser1244Cys) n.8303C>G | |
3 | g.9475682C>T | CA351692565 | SETD5 | n.2875C>T c.4016C>T (p.Ser1339Phe) n.4909C>T n.2300C>T n.6162C>T c.3920C>T (p.Ser1307Phe) c.*4066C>T (n.*4066C>T) c.*3989C>T (n.*3989C>T) c.*4294C>T (n.*4294C>T) c.*4025C>T (n.*4025C>T) c.3626C>T (p.Ser1209Phe) c.2722+526C>T c.3977C>T (p.Ser1326Phe) c.2956C>T n.1051C>T n.3261C>T n.4084C>T c.4094C>T (p.Ser1365Phe) c.4073C>T (p.Ser1358Phe) c.4055C>T (p.Ser1352Phe) c.4037C>T (p.Ser1346Phe) c.3998C>T (p.Ser1333Phe) c.3959C>T (p.Ser1320Phe) c.3683C>T (p.Ser1228Phe) c.3644C>T (p.Ser1215Phe) c.4034C>T (p.Ser1345Phe) c.3941C>T (p.Ser1314Phe) c.3416C>T (p.Ser1139Phe) c.3731C>T (p.Ser1244Phe) n.8303C>T | |
3 | g.9475683C>A | CA432528875 | SETD5 | n.2876C>A c.4017C>A (p.Ser1339=) n.4910C>A n.2301C>A n.6163C>A c.3921C>A (p.Ser1307=) c.*4067C>A (n.*4067C>A) c.*3990C>A (n.*3990C>A) c.*4295C>A (n.*4295C>A) c.*4026C>A (n.*4026C>A) c.3627C>A (p.Ser1209=) c.2722+527C>A c.3978C>A (p.Ser1326=) c.2957C>A n.1052C>A n.3262C>A n.4085C>A c.4095C>A (p.Ser1365=) c.4074C>A (p.Ser1358=) c.4056C>A (p.Ser1352=) c.4038C>A (p.Ser1346=) c.3999C>A (p.Ser1333=) c.3960C>A (p.Ser1320=) c.3684C>A (p.Ser1228=) c.3645C>A (p.Ser1215=) c.4035C>A (p.Ser1345=) c.3942C>A (p.Ser1314=) c.3417C>A (p.Ser1139=) c.3732C>A (p.Ser1244=) n.8304C>A | |
3 | g.9475683C>G | CA432528878 | SETD5 | n.2876C>G c.4017C>G (p.Ser1339=) n.4910C>G n.2301C>G n.6163C>G c.3921C>G (p.Ser1307=) c.*4067C>G (n.*4067C>G) c.*3990C>G (n.*3990C>G) c.*4295C>G (n.*4295C>G) c.*4026C>G (n.*4026C>G) c.3627C>G (p.Ser1209=) c.2722+527C>G c.3978C>G (p.Ser1326=) c.2957C>G n.1052C>G n.3262C>G n.4085C>G c.4095C>G (p.Ser1365=) c.4074C>G (p.Ser1358=) c.4056C>G (p.Ser1352=) c.4038C>G (p.Ser1346=) c.3999C>G (p.Ser1333=) c.3960C>G (p.Ser1320=) c.3684C>G (p.Ser1228=) c.3645C>G (p.Ser1215=) c.4035C>G (p.Ser1345=) c.3942C>G (p.Ser1314=) c.3417C>G (p.Ser1139=) c.3732C>G (p.Ser1244=) n.8304C>G | |
3 | g.9475683C>T | CA432528880 | SETD5 | n.2876C>T c.4017C>T (p.Ser1339=) n.4910C>T n.2301C>T n.6163C>T c.3921C>T (p.Ser1307=) c.*4067C>T (n.*4067C>T) c.*3990C>T (n.*3990C>T) c.*4295C>T (n.*4295C>T) c.*4026C>T (n.*4026C>T) c.3627C>T (p.Ser1209=) c.2722+527C>T c.3978C>T (p.Ser1326=) c.2957C>T n.1052C>T n.3262C>T n.4085C>T c.4095C>T (p.Ser1365=) c.4074C>T (p.Ser1358=) c.4056C>T (p.Ser1352=) c.4038C>T (p.Ser1346=) c.3999C>T (p.Ser1333=) c.3960C>T (p.Ser1320=) c.3684C>T (p.Ser1228=) c.3645C>T (p.Ser1215=) c.4035C>T (p.Ser1345=) c.3942C>T (p.Ser1314=) c.3417C>T (p.Ser1139=) c.3732C>T (p.Ser1244=) n.8304C>T | |
3 | g.9475684A= | CA1344742645 | SETD5 | n.2877A= c.4018A= (p.Thr1340=) n.4911A= n.2302A= n.6164A= c.3922A= (p.Thr1308=) c.*4068A= (n.*4068A=) c.*3991A= (n.*3991A=) c.*4296A= (n.*4296A=) c.*4027A= (n.*4027A=) c.3628A= (p.Thr1210=) c.2722+528A= c.3979A= (p.Thr1327=) c.2958A= n.1053A= n.3263A= n.4086A= c.4096A= (p.Thr1366=) c.4075A= (p.Thr1359=) c.4057A= (p.Thr1353=) c.4039A= (p.Thr1347=) c.4000A= (p.Thr1334=) c.3961A= (p.Thr1321=) c.3685A= (p.Thr1229=) c.3646A= (p.Thr1216=) c.4036A= (p.Thr1346=) c.3943A= (p.Thr1315=) c.3418A= (p.Thr1140=) c.3733A= (p.Thr1245=) n.8305A= | |
3 | g.9475684A>C | CA351692593 | SETD5 | n.2877A>C c.4018A>C (p.Thr1340Pro) n.4911A>C n.2302A>C n.6164A>C c.3922A>C (p.Thr1308Pro) c.*4068A>C (n.*4068A>C) c.*3991A>C (n.*3991A>C) c.*4296A>C (n.*4296A>C) c.*4027A>C (n.*4027A>C) c.3628A>C (p.Thr1210Pro) c.2722+528A>C c.3979A>C (p.Thr1327Pro) c.2958A>C n.1053A>C n.3263A>C n.4086A>C c.4096A>C (p.Thr1366Pro) c.4075A>C (p.Thr1359Pro) c.4057A>C (p.Thr1353Pro) c.4039A>C (p.Thr1347Pro) c.4000A>C (p.Thr1334Pro) c.3961A>C (p.Thr1321Pro) c.3685A>C (p.Thr1229Pro) c.3646A>C (p.Thr1216Pro) c.4036A>C (p.Thr1346Pro) c.3943A>C (p.Thr1315Pro) c.3418A>C (p.Thr1140Pro) c.3733A>C (p.Thr1245Pro) n.8305A>C | |
3 | g.9475684A>G | CA351692595 | SETD5 | n.2877A>G c.4018A>G (p.Thr1340Ala) n.4911A>G n.2302A>G n.6164A>G c.3922A>G (p.Thr1308Ala) c.*4068A>G (n.*4068A>G) c.*3991A>G (n.*3991A>G) c.*4296A>G (n.*4296A>G) c.*4027A>G (n.*4027A>G) c.3628A>G (p.Thr1210Ala) c.2722+528A>G c.3979A>G (p.Thr1327Ala) c.2958A>G n.1053A>G n.3263A>G n.4086A>G c.4096A>G (p.Thr1366Ala) c.4075A>G (p.Thr1359Ala) c.4057A>G (p.Thr1353Ala) c.4039A>G (p.Thr1347Ala) c.4000A>G (p.Thr1334Ala) c.3961A>G (p.Thr1321Ala) c.3685A>G (p.Thr1229Ala) c.3646A>G (p.Thr1216Ala) c.4036A>G (p.Thr1346Ala) c.3943A>G (p.Thr1315Ala) c.3418A>G (p.Thr1140Ala) c.3733A>G (p.Thr1245Ala) n.8305A>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.9475684A>T | CA351692594 | SETD5 | n.2877A>T c.4018A>T (p.Thr1340Ser) n.4911A>T n.2302A>T n.6164A>T c.3922A>T (p.Thr1308Ser) c.*4068A>T (n.*4068A>T) c.*3991A>T (n.*3991A>T) c.*4296A>T (n.*4296A>T) c.*4027A>T (n.*4027A>T) c.3628A>T (p.Thr1210Ser) c.2722+528A>T c.3979A>T (p.Thr1327Ser) c.2958A>T n.1053A>T n.3263A>T n.4086A>T c.4096A>T (p.Thr1366Ser) c.4075A>T (p.Thr1359Ser) c.4057A>T (p.Thr1353Ser) c.4039A>T (p.Thr1347Ser) c.4000A>T (p.Thr1334Ser) c.3961A>T (p.Thr1321Ser) c.3685A>T (p.Thr1229Ser) c.3646A>T (p.Thr1216Ser) c.4036A>T (p.Thr1346Ser) c.3943A>T (p.Thr1315Ser) c.3418A>T (p.Thr1140Ser) c.3733A>T (p.Thr1245Ser) n.8305A>T | |
3 | g.9475684_9475706delinsCATTTACG | CA2580070740 | SETD5 | n.2877_2899delinsCATTTACG c.4018_4040delinsCATTTACG (p.Thr1340_Thr1347delinsHisLeuArg) n.4911_4933delinsCATTTACG n.2302_2324delinsCATTTACG n.6164_6186delinsCATTTACG c.3922_3944delinsCATTTACG (p.Thr1308_Thr1315delinsHisLeuArg) c.*4068_*4090delinsCATTTACG (n.*4068_*4090delinsCATTTACG) c.*3991_*4013delinsCATTTACG (n.*3991_*4013delinsCATTTACG) c.*4296_*4318delinsCATTTACG (n.*4296_*4318delinsCATTTACG) c.*4027_*4049delinsCATTTACG (n.*4027_*4049delinsCATTTACG) c.3628_3650delinsCATTTACG (p.Thr1210_Thr1217delinsHisLeuArg) c.2722+528_2722+550delinsCATTTACG c.3979_4001delinsCATTTACG (p.Thr1327_Thr1334delinsHisLeuArg) c.2958_2980delinsCATTTACG n.3263_3285delinsCATTTACG n.4086_4108delinsCATTTACG c.4096_4118delinsCATTTACG (p.Thr1366_Thr1373delinsHisLeuArg) c.4075_4097delinsCATTTACG (p.Thr1359_Thr1366delinsHisLeuArg) c.4057_4079delinsCATTTACG (p.Thr1353_Thr1360delinsHisLeuArg) c.4039_4061delinsCATTTACG (p.Thr1347_Thr1354delinsHisLeuArg) c.4000_4022delinsCATTTACG (p.Thr1334_Thr1341delinsHisLeuArg) c.3961_3983delinsCATTTACG (p.Thr1321_Thr1328delinsHisLeuArg) c.3685_3707delinsCATTTACG (p.Thr1229_Thr1236delinsHisLeuArg) c.3646_3668delinsCATTTACG (p.Thr1216_Thr1223delinsHisLeuArg) c.4036_4058delinsCATTTACG (p.Thr1346_Thr1353delinsHisLeuArg) c.3943_3965delinsCATTTACG (p.Thr1315_Thr1322delinsHisLeuArg) c.3418_3440delinsCATTTACG (p.Thr1140_Thr1147delinsHisLeuArg) c.3733_3755delinsCATTTACG (p.Thr1245_Thr1252delinsHisLeuArg) n.8305_8327delinsCATTTACG | ClinVar |
3 | g.9475685C>A | CA351692605 | SETD5 | n.2878C>A c.4019C>A (p.Thr1340Lys) n.4912C>A n.2303C>A n.6165C>A c.3923C>A (p.Thr1308Lys) c.*4069C>A (n.*4069C>A) c.*3992C>A (n.*3992C>A) c.*4297C>A (n.*4297C>A) c.*4028C>A (n.*4028C>A) c.3629C>A (p.Thr1210Lys) c.2722+529C>A c.3980C>A (p.Thr1327Lys) c.2959C>A n.1054C>A n.3264C>A n.4087C>A c.4097C>A (p.Thr1366Lys) c.4076C>A (p.Thr1359Lys) c.4058C>A (p.Thr1353Lys) c.4040C>A (p.Thr1347Lys) c.4001C>A (p.Thr1334Lys) c.3962C>A (p.Thr1321Lys) c.3686C>A (p.Thr1229Lys) c.3647C>A (p.Thr1216Lys) c.4037C>A (p.Thr1346Lys) c.3944C>A (p.Thr1315Lys) c.3419C>A (p.Thr1140Lys) c.3734C>A (p.Thr1245Lys) n.8306C>A | |
3 | g.9475685C= | CA1344742651 | SETD5 | n.2878C= c.4019C= (p.Thr1340=) n.4912C= n.2303C= n.6165C= c.3923C= (p.Thr1308=) c.*4069C= (n.*4069C=) c.*3992C= (n.*3992C=) c.*4297C= (n.*4297C=) c.*4028C= (n.*4028C=) c.3629C= (p.Thr1210=) c.2722+529C= c.3980C= (p.Thr1327=) c.2959C= n.1054C= n.3264C= n.4087C= c.4097C= (p.Thr1366=) c.4076C= (p.Thr1359=) c.4058C= (p.Thr1353=) c.4040C= (p.Thr1347=) c.4001C= (p.Thr1334=) c.3962C= (p.Thr1321=) c.3686C= (p.Thr1229=) c.3647C= (p.Thr1216=) c.4037C= (p.Thr1346=) c.3944C= (p.Thr1315=) c.3419C= (p.Thr1140=) c.3734C= (p.Thr1245=) n.8306C= | |
3 | g.9475685C>G | CA69951973 | SETD5 | n.2878C>G c.4019C>G (p.Thr1340Arg) n.4912C>G n.2303C>G n.6165C>G c.3923C>G (p.Thr1308Arg) c.*4069C>G (n.*4069C>G) c.*3992C>G (n.*3992C>G) c.*4297C>G (n.*4297C>G) c.*4028C>G (n.*4028C>G) c.3629C>G (p.Thr1210Arg) c.2722+529C>G c.3980C>G (p.Thr1327Arg) c.2959C>G n.1054C>G n.3264C>G n.4087C>G c.4097C>G (p.Thr1366Arg) c.4076C>G (p.Thr1359Arg) c.4058C>G (p.Thr1353Arg) c.4040C>G (p.Thr1347Arg) c.4001C>G (p.Thr1334Arg) c.3962C>G (p.Thr1321Arg) c.3686C>G (p.Thr1229Arg) c.3647C>G (p.Thr1216Arg) c.4037C>G (p.Thr1346Arg) c.3944C>G (p.Thr1315Arg) c.3419C>G (p.Thr1140Arg) c.3734C>G (p.Thr1245Arg) n.8306C>G | dbSNP |
3 | g.9475685C>T | CA2239831 | SETD5 | n.2878C>T c.4019C>T (p.Thr1340Ile) n.4912C>T n.2303C>T n.6165C>T c.3923C>T (p.Thr1308Ile) c.*4069C>T (n.*4069C>T) c.*3992C>T (n.*3992C>T) c.*4297C>T (n.*4297C>T) c.*4028C>T (n.*4028C>T) c.3629C>T (p.Thr1210Ile) c.2722+529C>T c.3980C>T (p.Thr1327Ile) c.2959C>T n.1054C>T n.3264C>T n.4087C>T c.4097C>T (p.Thr1366Ile) c.4076C>T (p.Thr1359Ile) c.4058C>T (p.Thr1353Ile) c.4040C>T (p.Thr1347Ile) c.4001C>T (p.Thr1334Ile) c.3962C>T (p.Thr1321Ile) c.3686C>T (p.Thr1229Ile) c.3647C>T (p.Thr1216Ile) c.4037C>T (p.Thr1346Ile) c.3944C>T (p.Thr1315Ile) c.3419C>T (p.Thr1140Ile) c.3734C>T (p.Thr1245Ile) n.8306C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475686A>C | CA432528889 | SETD5 | n.2879A>C c.4020A>C (p.Thr1340=) n.4913A>C n.2304A>C n.6166A>C c.3924A>C (p.Thr1308=) c.*4070A>C (n.*4070A>C) c.*3993A>C (n.*3993A>C) c.*4298A>C (n.*4298A>C) c.*4029A>C (n.*4029A>C) c.3630A>C (p.Thr1210=) c.2722+530A>C c.3981A>C (p.Thr1327=) c.2960A>C n.1055A>C n.3265A>C n.4088A>C c.4098A>C (p.Thr1366=) c.4077A>C (p.Thr1359=) c.4059A>C (p.Thr1353=) c.4041A>C (p.Thr1347=) c.4002A>C (p.Thr1334=) c.3963A>C (p.Thr1321=) c.3687A>C (p.Thr1229=) c.3648A>C (p.Thr1216=) c.4038A>C (p.Thr1346=) c.3945A>C (p.Thr1315=) c.3420A>C (p.Thr1140=) c.3735A>C (p.Thr1245=) n.8307A>C | |
3 | g.9475686A>G | CA432528891 | SETD5 | n.2879A>G c.4020A>G (p.Thr1340=) n.4913A>G n.2304A>G n.6166A>G c.3924A>G (p.Thr1308=) c.*4070A>G (n.*4070A>G) c.*3993A>G (n.*3993A>G) c.*4298A>G (n.*4298A>G) c.*4029A>G (n.*4029A>G) c.3630A>G (p.Thr1210=) c.2722+530A>G c.3981A>G (p.Thr1327=) c.2960A>G n.1055A>G n.3265A>G n.4088A>G c.4098A>G (p.Thr1366=) c.4077A>G (p.Thr1359=) c.4059A>G (p.Thr1353=) c.4041A>G (p.Thr1347=) c.4002A>G (p.Thr1334=) c.3963A>G (p.Thr1321=) c.3687A>G (p.Thr1229=) c.3648A>G (p.Thr1216=) c.4038A>G (p.Thr1346=) c.3945A>G (p.Thr1315=) c.3420A>G (p.Thr1140=) c.3735A>G (p.Thr1245=) n.8307A>G | |
3 | g.9475686A>T | CA432528894 | SETD5 | n.2879A>T c.4020A>T (p.Thr1340=) n.4913A>T n.2304A>T n.6166A>T c.3924A>T (p.Thr1308=) c.*4070A>T (n.*4070A>T) c.*3993A>T (n.*3993A>T) c.*4298A>T (n.*4298A>T) c.*4029A>T (n.*4029A>T) c.3630A>T (p.Thr1210=) c.2722+530A>T c.3981A>T (p.Thr1327=) c.2960A>T n.1055A>T n.3265A>T n.4088A>T c.4098A>T (p.Thr1366=) c.4077A>T (p.Thr1359=) c.4059A>T (p.Thr1353=) c.4041A>T (p.Thr1347=) c.4002A>T (p.Thr1334=) c.3963A>T (p.Thr1321=) c.3687A>T (p.Thr1229=) c.3648A>T (p.Thr1216=) c.4038A>T (p.Thr1346=) c.3945A>T (p.Thr1315=) c.3420A>T (p.Thr1140=) c.3735A>T (p.Thr1245=) n.8307A>T | |
3 | g.9475687G>A | CA351692615 | SETD5 | n.2880G>A c.4021G>A (p.Asp1341Asn) n.4914G>A n.2305G>A n.6167G>A c.3925G>A (p.Asp1309Asn) c.*4071G>A (n.*4071G>A) c.*3994G>A (n.*3994G>A) c.*4299G>A (n.*4299G>A) c.*4030G>A (n.*4030G>A) c.3631G>A (p.Asp1211Asn) c.2722+531G>A c.3982G>A (p.Asp1328Asn) c.2961G>A n.1056G>A n.3266G>A n.4089G>A c.4099G>A (p.Asp1367Asn) c.4078G>A (p.Asp1360Asn) c.4060G>A (p.Asp1354Asn) c.4042G>A (p.Asp1348Asn) c.4003G>A (p.Asp1335Asn) c.3964G>A (p.Asp1322Asn) c.3688G>A (p.Asp1230Asn) c.3649G>A (p.Asp1217Asn) c.4039G>A (p.Asp1347Asn) c.3946G>A (p.Asp1316Asn) c.3421G>A (p.Asp1141Asn) c.3736G>A (p.Asp1246Asn) n.8308G>A | |
3 | g.9475687G>C | CA351692618 | SETD5 | n.2880G>C c.4021G>C (p.Asp1341His) n.4914G>C n.2305G>C n.6167G>C c.3925G>C (p.Asp1309His) c.*4071G>C (n.*4071G>C) c.*3994G>C (n.*3994G>C) c.*4299G>C (n.*4299G>C) c.*4030G>C (n.*4030G>C) c.3631G>C (p.Asp1211His) c.2722+531G>C c.3982G>C (p.Asp1328His) c.2961G>C n.1056G>C n.3266G>C n.4089G>C c.4099G>C (p.Asp1367His) c.4078G>C (p.Asp1360His) c.4060G>C (p.Asp1354His) c.4042G>C (p.Asp1348His) c.4003G>C (p.Asp1335His) c.3964G>C (p.Asp1322His) c.3688G>C (p.Asp1230His) c.3649G>C (p.Asp1217His) c.4039G>C (p.Asp1347His) c.3946G>C (p.Asp1316His) c.3421G>C (p.Asp1141His) c.3736G>C (p.Asp1246His) n.8308G>C | |
3 | g.9475687G>T | CA351692621 | SETD5 | n.2880G>T c.4021G>T (p.Asp1341Tyr) n.4914G>T n.2305G>T n.6167G>T c.3925G>T (p.Asp1309Tyr) c.*4071G>T (n.*4071G>T) c.*3994G>T (n.*3994G>T) c.*4299G>T (n.*4299G>T) c.*4030G>T (n.*4030G>T) c.3631G>T (p.Asp1211Tyr) c.2722+531G>T c.3982G>T (p.Asp1328Tyr) c.2961G>T n.1056G>T n.3266G>T n.4089G>T c.4099G>T (p.Asp1367Tyr) c.4078G>T (p.Asp1360Tyr) c.4060G>T (p.Asp1354Tyr) c.4042G>T (p.Asp1348Tyr) c.4003G>T (p.Asp1335Tyr) c.3964G>T (p.Asp1322Tyr) c.3688G>T (p.Asp1230Tyr) c.3649G>T (p.Asp1217Tyr) c.4039G>T (p.Asp1347Tyr) c.3946G>T (p.Asp1316Tyr) c.3421G>T (p.Asp1141Tyr) c.3736G>T (p.Asp1246Tyr) n.8308G>T | |
3 | g.9475688A= | CA1344742654 | SETD5 | n.2881A= c.4022A= (p.Asp1341=) n.4915A= n.2306A= n.6168A= c.3926A= (p.Asp1309=) c.*4072A= (n.*4072A=) c.*3995A= (n.*3995A=) c.*4300A= (n.*4300A=) c.*4031A= (n.*4031A=) c.3632A= (p.Asp1211=) c.2722+532A= c.3983A= (p.Asp1328=) c.2962A= n.1057A= n.3267A= n.4090A= c.4100A= (p.Asp1367=) c.4079A= (p.Asp1360=) c.4061A= (p.Asp1354=) c.4043A= (p.Asp1348=) c.4004A= (p.Asp1335=) c.3965A= (p.Asp1322=) c.3689A= (p.Asp1230=) c.3650A= (p.Asp1217=) c.4040A= (p.Asp1347=) c.3947A= (p.Asp1316=) c.3422A= (p.Asp1141=) c.3737A= (p.Asp1246=) n.8309A= | |
3 | g.9475688A>C | CA351692657 | SETD5 | n.2881A>C c.4022A>C (p.Asp1341Ala) n.4915A>C n.2306A>C n.6168A>C c.3926A>C (p.Asp1309Ala) c.*4072A>C (n.*4072A>C) c.*3995A>C (n.*3995A>C) c.*4300A>C (n.*4300A>C) c.*4031A>C (n.*4031A>C) c.3632A>C (p.Asp1211Ala) c.2722+532A>C c.3983A>C (p.Asp1328Ala) c.2962A>C n.1057A>C n.3267A>C n.4090A>C c.4100A>C (p.Asp1367Ala) c.4079A>C (p.Asp1360Ala) c.4061A>C (p.Asp1354Ala) c.4043A>C (p.Asp1348Ala) c.4004A>C (p.Asp1335Ala) c.3965A>C (p.Asp1322Ala) c.3689A>C (p.Asp1230Ala) c.3650A>C (p.Asp1217Ala) c.4040A>C (p.Asp1347Ala) c.3947A>C (p.Asp1316Ala) c.3422A>C (p.Asp1141Ala) c.3737A>C (p.Asp1246Ala) n.8309A>C | |
3 | g.9475688A>G | CA351692663 | SETD5 | n.2881A>G c.4022A>G (p.Asp1341Gly) n.4915A>G n.2306A>G n.6168A>G c.3926A>G (p.Asp1309Gly) c.*4072A>G (n.*4072A>G) c.*3995A>G (n.*3995A>G) c.*4300A>G (n.*4300A>G) c.*4031A>G (n.*4031A>G) c.3632A>G (p.Asp1211Gly) c.2722+532A>G c.3983A>G (p.Asp1328Gly) c.2962A>G n.1057A>G n.3267A>G n.4090A>G c.4100A>G (p.Asp1367Gly) c.4079A>G (p.Asp1360Gly) c.4061A>G (p.Asp1354Gly) c.4043A>G (p.Asp1348Gly) c.4004A>G (p.Asp1335Gly) c.3965A>G (p.Asp1322Gly) c.3689A>G (p.Asp1230Gly) c.3650A>G (p.Asp1217Gly) c.4040A>G (p.Asp1347Gly) c.3947A>G (p.Asp1316Gly) c.3422A>G (p.Asp1141Gly) c.3737A>G (p.Asp1246Gly) n.8309A>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.9475688A>T | CA351692669 | SETD5 | n.2881A>T c.4022A>T (p.Asp1341Val) n.4915A>T n.2306A>T n.6168A>T c.3926A>T (p.Asp1309Val) c.*4072A>T (n.*4072A>T) c.*3995A>T (n.*3995A>T) c.*4300A>T (n.*4300A>T) c.*4031A>T (n.*4031A>T) c.3632A>T (p.Asp1211Val) c.2722+532A>T c.3983A>T (p.Asp1328Val) c.2962A>T n.1057A>T n.3267A>T n.4090A>T c.4100A>T (p.Asp1367Val) c.4079A>T (p.Asp1360Val) c.4061A>T (p.Asp1354Val) c.4043A>T (p.Asp1348Val) c.4004A>T (p.Asp1335Val) c.3965A>T (p.Asp1322Val) c.3689A>T (p.Asp1230Val) c.3650A>T (p.Asp1217Val) c.4040A>T (p.Asp1347Val) c.3947A>T (p.Asp1316Val) c.3422A>T (p.Asp1141Val) c.3737A>T (p.Asp1246Val) n.8309A>T | |
3 | g.9475689C>A | CA351692674 | SETD5 | n.2882C>A c.4023C>A (p.Asp1341Glu) n.4916C>A n.2307C>A n.6169C>A c.3927C>A (p.Asp1309Glu) c.*4073C>A (n.*4073C>A) c.*3996C>A (n.*3996C>A) c.*4301C>A (n.*4301C>A) c.*4032C>A (n.*4032C>A) c.3633C>A (p.Asp1211Glu) c.2722+533C>A c.3984C>A (p.Asp1328Glu) c.2963C>A n.1058C>A n.3268C>A n.4091C>A c.4101C>A (p.Asp1367Glu) c.4080C>A (p.Asp1360Glu) c.4062C>A (p.Asp1354Glu) c.4044C>A (p.Asp1348Glu) c.4005C>A (p.Asp1335Glu) c.3966C>A (p.Asp1322Glu) c.3690C>A (p.Asp1230Glu) c.3651C>A (p.Asp1217Glu) c.4041C>A (p.Asp1347Glu) c.3948C>A (p.Asp1316Glu) c.3423C>A (p.Asp1141Glu) c.3738C>A (p.Asp1246Glu) n.8310C>A | |
3 | g.9475689C= | CA1344742658 | SETD5 | n.2882C= c.4023C= (p.Asp1341=) n.4916C= n.2307C= n.6169C= c.3927C= (p.Asp1309=) c.*4073C= (n.*4073C=) c.*3996C= (n.*3996C=) c.*4301C= (n.*4301C=) c.*4032C= (n.*4032C=) c.3633C= (p.Asp1211=) c.2722+533C= c.3984C= (p.Asp1328=) c.2963C= n.1058C= n.3268C= n.4091C= c.4101C= (p.Asp1367=) c.4080C= (p.Asp1360=) c.4062C= (p.Asp1354=) c.4044C= (p.Asp1348=) c.4005C= (p.Asp1335=) c.3966C= (p.Asp1322=) c.3690C= (p.Asp1230=) c.3651C= (p.Asp1217=) c.4041C= (p.Asp1347=) c.3948C= (p.Asp1316=) c.3423C= (p.Asp1141=) c.3738C= (p.Asp1246=) n.8310C= | |
3 | g.9475689C>G | CA351692676 | SETD5 | n.2882C>G c.4023C>G (p.Asp1341Glu) n.4916C>G n.2307C>G n.6169C>G c.3927C>G (p.Asp1309Glu) c.*4073C>G (n.*4073C>G) c.*3996C>G (n.*3996C>G) c.*4301C>G (n.*4301C>G) c.*4032C>G (n.*4032C>G) c.3633C>G (p.Asp1211Glu) c.2722+533C>G c.3984C>G (p.Asp1328Glu) c.2963C>G n.1058C>G n.3268C>G n.4091C>G c.4101C>G (p.Asp1367Glu) c.4080C>G (p.Asp1360Glu) c.4062C>G (p.Asp1354Glu) c.4044C>G (p.Asp1348Glu) c.4005C>G (p.Asp1335Glu) c.3966C>G (p.Asp1322Glu) c.3690C>G (p.Asp1230Glu) c.3651C>G (p.Asp1217Glu) c.4041C>G (p.Asp1347Glu) c.3948C>G (p.Asp1316Glu) c.3423C>G (p.Asp1141Glu) c.3738C>G (p.Asp1246Glu) n.8310C>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.9475689C>T | CA432528903 | SETD5 | n.2882C>T c.4023C>T (p.Asp1341=) n.4916C>T n.2307C>T n.6169C>T c.3927C>T (p.Asp1309=) c.*4073C>T (n.*4073C>T) c.*3996C>T (n.*3996C>T) c.*4301C>T (n.*4301C>T) c.*4032C>T (n.*4032C>T) c.3633C>T (p.Asp1211=) c.2722+533C>T c.3984C>T (p.Asp1328=) c.2963C>T n.1058C>T n.3268C>T n.4091C>T c.4101C>T (p.Asp1367=) c.4080C>T (p.Asp1360=) c.4062C>T (p.Asp1354=) c.4044C>T (p.Asp1348=) c.4005C>T (p.Asp1335=) c.3966C>T (p.Asp1322=) c.3690C>T (p.Asp1230=) c.3651C>T (p.Asp1217=) c.4041C>T (p.Asp1347=) c.3948C>T (p.Asp1316=) c.3423C>T (p.Asp1141=) c.3738C>T (p.Asp1246=) n.8310C>T | gnomAD v4 |
3 | g.9475690T>A | CA351692687 | SETD5 | n.2883T>A c.4024T>A (p.Ser1342Thr) n.4917T>A n.2308T>A n.6170T>A c.3928T>A (p.Ser1310Thr) c.*4074T>A (n.*4074T>A) c.*3997T>A (n.*3997T>A) c.*4302T>A (n.*4302T>A) c.*4033T>A (n.*4033T>A) c.3634T>A (p.Ser1212Thr) c.2722+534T>A c.3985T>A (p.Ser1329Thr) c.2964T>A n.1059T>A n.3269T>A n.4092T>A c.4102T>A (p.Ser1368Thr) c.4081T>A (p.Ser1361Thr) c.4063T>A (p.Ser1355Thr) c.4045T>A (p.Ser1349Thr) c.4006T>A (p.Ser1336Thr) c.3967T>A (p.Ser1323Thr) c.3691T>A (p.Ser1231Thr) c.3652T>A (p.Ser1218Thr) c.4042T>A (p.Ser1348Thr) c.3949T>A (p.Ser1317Thr) c.3424T>A (p.Ser1142Thr) c.3739T>A (p.Ser1247Thr) n.8311T>A | |
3 | g.9475690T>C | CA351692686 | SETD5 | n.2883T>C c.4024T>C (p.Ser1342Pro) n.4917T>C n.2308T>C n.6170T>C c.3928T>C (p.Ser1310Pro) c.*4074T>C (n.*4074T>C) c.*3997T>C (n.*3997T>C) c.*4302T>C (n.*4302T>C) c.*4033T>C (n.*4033T>C) c.3634T>C (p.Ser1212Pro) c.2722+534T>C c.3985T>C (p.Ser1329Pro) c.2964T>C n.1059T>C n.3269T>C n.4092T>C c.4102T>C (p.Ser1368Pro) c.4081T>C (p.Ser1361Pro) c.4063T>C (p.Ser1355Pro) c.4045T>C (p.Ser1349Pro) c.4006T>C (p.Ser1336Pro) c.3967T>C (p.Ser1323Pro) c.3691T>C (p.Ser1231Pro) c.3652T>C (p.Ser1218Pro) c.4042T>C (p.Ser1348Pro) c.3949T>C (p.Ser1317Pro) c.3424T>C (p.Ser1142Pro) c.3739T>C (p.Ser1247Pro) n.8311T>C | |
3 | g.9475690T>G | CA351692679 | SETD5 | n.2883T>G c.4024T>G (p.Ser1342Ala) n.4917T>G n.2308T>G n.6170T>G c.3928T>G (p.Ser1310Ala) c.*4074T>G (n.*4074T>G) c.*3997T>G (n.*3997T>G) c.*4302T>G (n.*4302T>G) c.*4033T>G (n.*4033T>G) c.3634T>G (p.Ser1212Ala) c.2722+534T>G c.3985T>G (p.Ser1329Ala) c.2964T>G n.1059T>G n.3269T>G n.4092T>G c.4102T>G (p.Ser1368Ala) c.4081T>G (p.Ser1361Ala) c.4063T>G (p.Ser1355Ala) c.4045T>G (p.Ser1349Ala) c.4006T>G (p.Ser1336Ala) c.3967T>G (p.Ser1323Ala) c.3691T>G (p.Ser1231Ala) c.3652T>G (p.Ser1218Ala) c.4042T>G (p.Ser1348Ala) c.3949T>G (p.Ser1317Ala) c.3424T>G (p.Ser1142Ala) c.3739T>G (p.Ser1247Ala) n.8311T>G | |
3 | g.9475691C>A | CA351692690 | SETD5 | n.2884C>A c.4025C>A (p.Ser1342Ter) n.4918C>A n.2309C>A n.6171C>A c.3929C>A (p.Ser1310Ter) c.*4075C>A (n.*4075C>A) c.*3998C>A (n.*3998C>A) c.*4303C>A (n.*4303C>A) c.*4034C>A (n.*4034C>A) c.3635C>A (p.Ser1212Ter) c.2722+535C>A c.3986C>A (p.Ser1329Ter) c.2965C>A n.1060C>A n.3270C>A n.4093C>A c.4103C>A (p.Ser1368Ter) c.4082C>A (p.Ser1361Ter) c.4064C>A (p.Ser1355Ter) c.4046C>A (p.Ser1349Ter) c.4007C>A (p.Ser1336Ter) c.3968C>A (p.Ser1323Ter) c.3692C>A (p.Ser1231Ter) c.3653C>A (p.Ser1218Ter) c.4043C>A (p.Ser1348Ter) c.3950C>A (p.Ser1317Ter) c.3425C>A (p.Ser1142Ter) c.3740C>A (p.Ser1247Ter) n.8312C>A | |
3 | g.9475691C= | CA1344742662 | SETD5 | n.2884C= c.4025C= (p.Ser1342=) n.4918C= n.2309C= n.6171C= c.3929C= (p.Ser1310=) c.*4075C= (n.*4075C=) c.*3998C= (n.*3998C=) c.*4303C= (n.*4303C=) c.*4034C= (n.*4034C=) c.3635C= (p.Ser1212=) c.2722+535C= c.3986C= (p.Ser1329=) c.2965C= n.1060C= n.3270C= n.4093C= c.4103C= (p.Ser1368=) c.4082C= (p.Ser1361=) c.4064C= (p.Ser1355=) c.4046C= (p.Ser1349=) c.4007C= (p.Ser1336=) c.3968C= (p.Ser1323=) c.3692C= (p.Ser1231=) c.3653C= (p.Ser1218=) c.4043C= (p.Ser1348=) c.3950C= (p.Ser1317=) c.3425C= (p.Ser1142=) c.3740C= (p.Ser1247=) n.8312C= | |
3 | g.9475691C>G | CA2239833 | SETD5 | n.2884C>G c.4025C>G (p.Ser1342Trp) n.4918C>G n.2309C>G n.6171C>G c.3929C>G (p.Ser1310Trp) c.*4075C>G (n.*4075C>G) c.*3998C>G (n.*3998C>G) c.*4303C>G (n.*4303C>G) c.*4034C>G (n.*4034C>G) c.3635C>G (p.Ser1212Trp) c.2722+535C>G c.3986C>G (p.Ser1329Trp) c.2965C>G n.1060C>G n.3270C>G n.4093C>G c.4103C>G (p.Ser1368Trp) c.4082C>G (p.Ser1361Trp) c.4064C>G (p.Ser1355Trp) c.4046C>G (p.Ser1349Trp) c.4007C>G (p.Ser1336Trp) c.3968C>G (p.Ser1323Trp) c.3692C>G (p.Ser1231Trp) c.3653C>G (p.Ser1218Trp) c.4043C>G (p.Ser1348Trp) c.3950C>G (p.Ser1317Trp) c.3425C>G (p.Ser1142Trp) c.3740C>G (p.Ser1247Trp) n.8312C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475691C>T | CA2239832 | SETD5 | n.2884C>T c.4025C>T (p.Ser1342Leu) n.4918C>T n.2309C>T n.6171C>T c.3929C>T (p.Ser1310Leu) c.*4075C>T (n.*4075C>T) c.*3998C>T (n.*3998C>T) c.*4303C>T (n.*4303C>T) c.*4034C>T (n.*4034C>T) c.3635C>T (p.Ser1212Leu) c.2722+535C>T c.3986C>T (p.Ser1329Leu) c.2965C>T n.1060C>T n.3270C>T n.4093C>T c.4103C>T (p.Ser1368Leu) c.4082C>T (p.Ser1361Leu) c.4064C>T (p.Ser1355Leu) c.4046C>T (p.Ser1349Leu) c.4007C>T (p.Ser1336Leu) c.3968C>T (p.Ser1323Leu) c.3692C>T (p.Ser1231Leu) c.3653C>T (p.Ser1218Leu) c.4043C>T (p.Ser1348Leu) c.3950C>T (p.Ser1317Leu) c.3425C>T (p.Ser1142Leu) c.3740C>T (p.Ser1247Leu) n.8312C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475692G>A | CA2239834 | SETD5 | n.2885G>A c.4026G>A (p.Ser1342=) n.4919G>A n.2310G>A n.6172G>A c.3930G>A (p.Ser1310=) c.*4076G>A (n.*4076G>A) c.*3999G>A (n.*3999G>A) c.*4304G>A (n.*4304G>A) c.*4035G>A (n.*4035G>A) c.3636G>A (p.Ser1212=) c.2722+536G>A c.3987G>A (p.Ser1329=) c.2966G>A n.1061G>A n.3271G>A n.4094G>A c.4104G>A (p.Ser1368=) c.4083G>A (p.Ser1361=) c.4065G>A (p.Ser1355=) c.4047G>A (p.Ser1349=) c.4008G>A (p.Ser1336=) c.3969G>A (p.Ser1323=) c.3693G>A (p.Ser1231=) c.3654G>A (p.Ser1218=) c.4044G>A (p.Ser1348=) c.3951G>A (p.Ser1317=) c.3426G>A (p.Ser1142=) c.3741G>A (p.Ser1247=) n.8313G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.9475692G>C | CA432528910 | SETD5 | n.2885G>C c.4026G>C (p.Ser1342=) n.4919G>C n.2310G>C n.6172G>C c.3930G>C (p.Ser1310=) c.*4076G>C (n.*4076G>C) c.*3999G>C (n.*3999G>C) c.*4304G>C (n.*4304G>C) c.*4035G>C (n.*4035G>C) c.3636G>C (p.Ser1212=) c.2722+536G>C c.3987G>C (p.Ser1329=) c.2966G>C n.1061G>C n.3271G>C n.4094G>C c.4104G>C (p.Ser1368=) c.4083G>C (p.Ser1361=) c.4065G>C (p.Ser1355=) c.4047G>C (p.Ser1349=) c.4008G>C (p.Ser1336=) c.3969G>C (p.Ser1323=) c.3693G>C (p.Ser1231=) c.3654G>C (p.Ser1218=) c.4044G>C (p.Ser1348=) c.3951G>C (p.Ser1317=) c.3426G>C (p.Ser1142=) c.3741G>C (p.Ser1247=) n.8313G>C | dbSNP gnomAD v4 |
3 | g.9475692G= | CA1344742674 | SETD5 | n.2885G= c.4026G= (p.Ser1342=) n.4919G= n.2310G= n.6172G= c.3930G= (p.Ser1310=) c.*4076G= (n.*4076G=) c.*3999G= (n.*3999G=) c.*4304G= (n.*4304G=) c.*4035G= (n.*4035G=) c.3636G= (p.Ser1212=) c.2722+536G= c.3987G= (p.Ser1329=) c.2966G= n.1061G= n.3271G= n.4094G= c.4104G= (p.Ser1368=) c.4083G= (p.Ser1361=) c.4065G= (p.Ser1355=) c.4047G= (p.Ser1349=) c.4008G= (p.Ser1336=) c.3969G= (p.Ser1323=) c.3693G= (p.Ser1231=) c.3654G= (p.Ser1218=) c.4044G= (p.Ser1348=) c.3951G= (p.Ser1317=) c.3426G= (p.Ser1142=) c.3741G= (p.Ser1247=) n.8313G= | |
3 | g.9475692G>T | CA432528911 | SETD5 | n.2885G>T c.4026G>T (p.Ser1342=) n.4919G>T n.2310G>T n.6172G>T c.3930G>T (p.Ser1310=) c.*4076G>T (n.*4076G>T) c.*3999G>T (n.*3999G>T) c.*4304G>T (n.*4304G>T) c.*4035G>T (n.*4035G>T) c.3636G>T (p.Ser1212=) c.2722+536G>T c.3987G>T (p.Ser1329=) c.2966G>T n.1061G>T n.3271G>T n.4094G>T c.4104G>T (p.Ser1368=) c.4083G>T (p.Ser1361=) c.4065G>T (p.Ser1355=) c.4047G>T (p.Ser1349=) c.4008G>T (p.Ser1336=) c.3969G>T (p.Ser1323=) c.3693G>T (p.Ser1231=) c.3654G>T (p.Ser1218=) c.4044G>T (p.Ser1348=) c.3951G>T (p.Ser1317=) c.3426G>T (p.Ser1142=) c.3741G>T (p.Ser1247=) n.8313G>T | |
3 | g.9475693_9475695del | CA2664308748 | SETD5 | n.2886_2888del c.4027_4029del (p.Leu1343del) n.4920_4922del n.2311_2313del n.6173_6175del c.3931_3933del (p.Leu1311del) c.*4077_*4079del (n.*4077_*4079del) c.*4000_*4002del (n.*4000_*4002del) c.*4305_*4307del (n.*4305_*4307del) c.*4036_*4038del (n.*4036_*4038del) c.3637_3639del (p.Leu1213del) c.2722+537_2722+539del c.3988_3990del (p.Leu1330del) c.2967_2969del n.1062_1064del n.3272_3274del n.4095_4097del c.4105_4107del (p.Leu1369del) c.4084_4086del (p.Leu1362del) c.4066_4068del (p.Leu1356del) c.4048_4050del (p.Leu1350del) c.4009_4011del (p.Leu1337del) c.3970_3972del (p.Leu1324del) c.3694_3696del (p.Leu1232del) c.3655_3657del (p.Leu1219del) c.4045_4047del (p.Leu1349del) c.3952_3954del (p.Leu1318del) c.3427_3429del (p.Leu1143del) c.3742_3744del (p.Leu1248del) n.8314_8316del | gnomAD v4 |
3 | g.9475693T>A | CA351692707 | SETD5 | n.2886T>A c.4027T>A (p.Leu1343Met) n.4920T>A n.2311T>A n.6173T>A c.3931T>A (p.Leu1311Met) c.*4077T>A (n.*4077T>A) c.*4000T>A (n.*4000T>A) c.*4305T>A (n.*4305T>A) c.*4036T>A (n.*4036T>A) c.3637T>A (p.Leu1213Met) c.2722+537T>A c.3988T>A (p.Leu1330Met) c.2967T>A n.1062T>A n.3272T>A n.4095T>A c.4105T>A (p.Leu1369Met) c.4084T>A (p.Leu1362Met) c.4066T>A (p.Leu1356Met) c.4048T>A (p.Leu1350Met) c.4009T>A (p.Leu1337Met) c.3970T>A (p.Leu1324Met) c.3694T>A (p.Leu1232Met) c.3655T>A (p.Leu1219Met) c.4045T>A (p.Leu1349Met) c.3952T>A (p.Leu1318Met) c.3427T>A (p.Leu1143Met) c.3742T>A (p.Leu1248Met) n.8314T>A | |
3 | g.9475693T>C | CA432528913 | SETD5 | n.2886T>C c.4027T>C (p.Leu1343=) n.4920T>C n.2311T>C n.6173T>C c.3931T>C (p.Leu1311=) c.*4077T>C (n.*4077T>C) c.*4000T>C (n.*4000T>C) c.*4305T>C (n.*4305T>C) c.*4036T>C (n.*4036T>C) c.3637T>C (p.Leu1213=) c.2722+537T>C c.3988T>C (p.Leu1330=) c.2967T>C n.1062T>C n.3272T>C n.4095T>C c.4105T>C (p.Leu1369=) c.4084T>C (p.Leu1362=) c.4066T>C (p.Leu1356=) c.4048T>C (p.Leu1350=) c.4009T>C (p.Leu1337=) c.3970T>C (p.Leu1324=) c.3694T>C (p.Leu1232=) c.3655T>C (p.Leu1219=) c.4045T>C (p.Leu1349=) c.3952T>C (p.Leu1318=) c.3427T>C (p.Leu1143=) c.3742T>C (p.Leu1248=) n.8314T>C | |
3 | g.9475693T>G | CA351692719 | SETD5 | n.2886T>G c.4027T>G (p.Leu1343Val) n.4920T>G n.2311T>G n.6173T>G c.3931T>G (p.Leu1311Val) c.*4077T>G (n.*4077T>G) c.*4000T>G (n.*4000T>G) c.*4305T>G (n.*4305T>G) c.*4036T>G (n.*4036T>G) c.3637T>G (p.Leu1213Val) c.2722+537T>G c.3988T>G (p.Leu1330Val) c.2967T>G n.1062T>G n.3272T>G n.4095T>G c.4105T>G (p.Leu1369Val) c.4084T>G (p.Leu1362Val) c.4066T>G (p.Leu1356Val) c.4048T>G (p.Leu1350Val) c.4009T>G (p.Leu1337Val) c.3970T>G (p.Leu1324Val) c.3694T>G (p.Leu1232Val) c.3655T>G (p.Leu1219Val) c.4045T>G (p.Leu1349Val) c.3952T>G (p.Leu1318Val) c.3427T>G (p.Leu1143Val) c.3742T>G (p.Leu1248Val) n.8314T>G | |
3 | g.9475694T>A | CA351692722 | SETD5 | n.2887T>A c.4028T>A (p.Leu1343Ter) n.4921T>A n.2312T>A n.6174T>A c.3932T>A (p.Leu1311Ter) c.*4078T>A (n.*4078T>A) c.*4001T>A (n.*4001T>A) c.*4306T>A (n.*4306T>A) c.*4037T>A (n.*4037T>A) c.3638T>A (p.Leu1213Ter) c.2722+538T>A c.3989T>A (p.Leu1330Ter) c.2968T>A n.1063T>A n.3273T>A n.4096T>A c.4106T>A (p.Leu1369Ter) c.4085T>A (p.Leu1362Ter) c.4067T>A (p.Leu1356Ter) c.4049T>A (p.Leu1350Ter) c.4010T>A (p.Leu1337Ter) c.3971T>A (p.Leu1324Ter) c.3695T>A (p.Leu1232Ter) c.3656T>A (p.Leu1219Ter) c.4046T>A (p.Leu1349Ter) c.3953T>A (p.Leu1318Ter) c.3428T>A (p.Leu1143Ter) c.3743T>A (p.Leu1248Ter) n.8315T>A | |
3 | g.9475694T>C | CA351692723 | SETD5 | n.2887T>C c.4028T>C (p.Leu1343Ser) n.4921T>C n.2312T>C n.6174T>C c.3932T>C (p.Leu1311Ser) c.*4078T>C (n.*4078T>C) c.*4001T>C (n.*4001T>C) c.*4306T>C (n.*4306T>C) c.*4037T>C (n.*4037T>C) c.3638T>C (p.Leu1213Ser) c.2722+538T>C c.3989T>C (p.Leu1330Ser) c.2968T>C n.1063T>C n.3273T>C n.4096T>C c.4106T>C (p.Leu1369Ser) c.4085T>C (p.Leu1362Ser) c.4067T>C (p.Leu1356Ser) c.4049T>C (p.Leu1350Ser) c.4010T>C (p.Leu1337Ser) c.3971T>C (p.Leu1324Ser) c.3695T>C (p.Leu1232Ser) c.3656T>C (p.Leu1219Ser) c.4046T>C (p.Leu1349Ser) c.3953T>C (p.Leu1318Ser) c.3428T>C (p.Leu1143Ser) c.3743T>C (p.Leu1248Ser) n.8315T>C | |
3 | g.9475694T>G | CA351692727 | SETD5 | n.2887T>G c.4028T>G (p.Leu1343Trp) n.4921T>G n.2312T>G n.6174T>G c.3932T>G (p.Leu1311Trp) c.*4078T>G (n.*4078T>G) c.*4001T>G (n.*4001T>G) c.*4306T>G (n.*4306T>G) c.*4037T>G (n.*4037T>G) c.3638T>G (p.Leu1213Trp) c.2722+538T>G c.3989T>G (p.Leu1330Trp) c.2968T>G n.1063T>G n.3273T>G n.4096T>G c.4106T>G (p.Leu1369Trp) c.4085T>G (p.Leu1362Trp) c.4067T>G (p.Leu1356Trp) c.4049T>G (p.Leu1350Trp) c.4010T>G (p.Leu1337Trp) c.3971T>G (p.Leu1324Trp) c.3695T>G (p.Leu1232Trp) c.3656T>G (p.Leu1219Trp) c.4046T>G (p.Leu1349Trp) c.3953T>G (p.Leu1318Trp) c.3428T>G (p.Leu1143Trp) c.3743T>G (p.Leu1248Trp) n.8315T>G | |
3 | g.9475695G>A | CA432528917 | SETD5 | n.2888G>A c.4029G>A (p.Leu1343=) n.4922G>A n.2313G>A n.6175G>A c.3933G>A (p.Leu1311=) c.*4079G>A (n.*4079G>A) c.*4002G>A (n.*4002G>A) c.*4307G>A (n.*4307G>A) c.*4038G>A (n.*4038G>A) c.3639G>A (p.Leu1213=) c.2722+539G>A c.3990G>A (p.Leu1330=) c.2969G>A n.1064G>A n.3274G>A n.4097G>A c.4107G>A (p.Leu1369=) c.4086G>A (p.Leu1362=) c.4068G>A (p.Leu1356=) c.4050G>A (p.Leu1350=) c.4011G>A (p.Leu1337=) c.3972G>A (p.Leu1324=) c.3696G>A (p.Leu1232=) c.3657G>A (p.Leu1219=) c.4047G>A (p.Leu1349=) c.3954G>A (p.Leu1318=) c.3429G>A (p.Leu1143=) c.3744G>A (p.Leu1248=) n.8316G>A | gnomAD v4 |
3 | g.9475695G>C | CA351692738 | SETD5 | n.2888G>C c.4029G>C (p.Leu1343Phe) n.4922G>C n.2313G>C n.6175G>C c.3933G>C (p.Leu1311Phe) c.*4079G>C (n.*4079G>C) c.*4002G>C (n.*4002G>C) c.*4307G>C (n.*4307G>C) c.*4038G>C (n.*4038G>C) c.3639G>C (p.Leu1213Phe) c.2722+539G>C c.3990G>C (p.Leu1330Phe) c.2969G>C n.1064G>C n.3274G>C n.4097G>C c.4107G>C (p.Leu1369Phe) c.4086G>C (p.Leu1362Phe) c.4068G>C (p.Leu1356Phe) c.4050G>C (p.Leu1350Phe) c.4011G>C (p.Leu1337Phe) c.3972G>C (p.Leu1324Phe) c.3696G>C (p.Leu1232Phe) c.3657G>C (p.Leu1219Phe) c.4047G>C (p.Leu1349Phe) c.3954G>C (p.Leu1318Phe) c.3429G>C (p.Leu1143Phe) c.3744G>C (p.Leu1248Phe) n.8316G>C | gnomAD v4 |
3 | g.9475695G>T | CA351692753 | SETD5 | n.2888G>T c.4029G>T (p.Leu1343Phe) n.4922G>T n.2313G>T n.6175G>T c.3933G>T (p.Leu1311Phe) c.*4079G>T (n.*4079G>T) c.*4002G>T (n.*4002G>T) c.*4307G>T (n.*4307G>T) c.*4038G>T (n.*4038G>T) c.3639G>T (p.Leu1213Phe) c.2722+539G>T c.3990G>T (p.Leu1330Phe) c.2969G>T n.1064G>T n.3274G>T n.4097G>T c.4107G>T (p.Leu1369Phe) c.4086G>T (p.Leu1362Phe) c.4068G>T (p.Leu1356Phe) c.4050G>T (p.Leu1350Phe) c.4011G>T (p.Leu1337Phe) c.3972G>T (p.Leu1324Phe) c.3696G>T (p.Leu1232Phe) c.3657G>T (p.Leu1219Phe) c.4047G>T (p.Leu1349Phe) c.3954G>T (p.Leu1318Phe) c.3429G>T (p.Leu1143Phe) c.3744G>T (p.Leu1248Phe) n.8316G>T | |
3 | g.9475696del | CA2577498752 | SETD5 | n.2889del c.4030del (p.Ala1344ProfsTer?) n.4923del n.2314del n.6176del c.3934del (p.Ala1312ProfsTer?) c.*4080del (n.*4080del) c.*4003del (n.*4003del) c.*4308del (n.*4308del) c.*4039del (n.*4039del) c.3640del (p.Ala1214ProfsTer?) c.2722+540del c.3991del (p.Ala1331ProfsTer?) c.2970del n.1065del n.3275del n.4098del c.4108del (p.Ala1370ProfsTer?) c.4087del (p.Ala1363ProfsTer?) c.4069del (p.Ala1357ProfsTer?) c.4051del (p.Ala1351ProfsTer?) c.4012del (p.Ala1338ProfsTer?) c.3973del (p.Ala1325ProfsTer?) c.3697del (p.Ala1233ProfsTer?) c.3658del (p.Ala1220ProfsTer?) c.4048del (p.Ala1350ProfsTer?) c.3955del (p.Ala1319ProfsTer?) c.3430del (p.Ala1144ProfsTer?) c.3745del (p.Ala1249ProfsTer?) n.8317del | |
3 | g.9475696G>A | CA2239835 | SETD5 | n.2889G>A c.4030G>A (p.Ala1344Thr) n.4923G>A n.2314G>A n.6176G>A c.3934G>A (p.Ala1312Thr) c.*4080G>A (n.*4080G>A) c.*4003G>A (n.*4003G>A) c.*4308G>A (n.*4308G>A) c.*4039G>A (n.*4039G>A) c.3640G>A (p.Ala1214Thr) c.2722+540G>A c.3991G>A (p.Ala1331Thr) c.2970G>A n.1065G>A n.3275G>A n.4098G>A c.4108G>A (p.Ala1370Thr) c.4087G>A (p.Ala1363Thr) c.4069G>A (p.Ala1357Thr) c.4051G>A (p.Ala1351Thr) c.4012G>A (p.Ala1338Thr) c.3973G>A (p.Ala1325Thr) c.3697G>A (p.Ala1233Thr) c.3658G>A (p.Ala1220Thr) c.4048G>A (p.Ala1350Thr) c.3955G>A (p.Ala1319Thr) c.3430G>A (p.Ala1144Thr) c.3745G>A (p.Ala1249Thr) n.8317G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475696G>C | CA351692783 | SETD5 | n.2889G>C c.4030G>C (p.Ala1344Pro) n.4923G>C n.2314G>C n.6176G>C c.3934G>C (p.Ala1312Pro) c.*4080G>C (n.*4080G>C) c.*4003G>C (n.*4003G>C) c.*4308G>C (n.*4308G>C) c.*4039G>C (n.*4039G>C) c.3640G>C (p.Ala1214Pro) c.2722+540G>C c.3991G>C (p.Ala1331Pro) c.2970G>C n.1065G>C n.3275G>C n.4098G>C c.4108G>C (p.Ala1370Pro) c.4087G>C (p.Ala1363Pro) c.4069G>C (p.Ala1357Pro) c.4051G>C (p.Ala1351Pro) c.4012G>C (p.Ala1338Pro) c.3973G>C (p.Ala1325Pro) c.3697G>C (p.Ala1233Pro) c.3658G>C (p.Ala1220Pro) c.4048G>C (p.Ala1350Pro) c.3955G>C (p.Ala1319Pro) c.3430G>C (p.Ala1144Pro) c.3745G>C (p.Ala1249Pro) n.8317G>C | |
3 | g.9475696G= | CA1344742677 | SETD5 | n.2889G= c.4030G= (p.Ala1344=) n.4923G= n.2314G= n.6176G= c.3934G= (p.Ala1312=) c.*4080G= (n.*4080G=) c.*4003G= (n.*4003G=) c.*4308G= (n.*4308G=) c.*4039G= (n.*4039G=) c.3640G= (p.Ala1214=) c.2722+540G= c.3991G= (p.Ala1331=) c.2970G= n.1065G= n.3275G= n.4098G= c.4108G= (p.Ala1370=) c.4087G= (p.Ala1363=) c.4069G= (p.Ala1357=) c.4051G= (p.Ala1351=) c.4012G= (p.Ala1338=) c.3973G= (p.Ala1325=) c.3697G= (p.Ala1233=) c.3658G= (p.Ala1220=) c.4048G= (p.Ala1350=) c.3955G= (p.Ala1319=) c.3430G= (p.Ala1144=) c.3745G= (p.Ala1249=) n.8317G= | |
3 | g.9475696G>T | CA351692777 | SETD5 | n.2889G>T c.4030G>T (p.Ala1344Ser) n.4923G>T n.2314G>T n.6176G>T c.3934G>T (p.Ala1312Ser) c.*4080G>T (n.*4080G>T) c.*4003G>T (n.*4003G>T) c.*4308G>T (n.*4308G>T) c.*4039G>T (n.*4039G>T) c.3640G>T (p.Ala1214Ser) c.2722+540G>T c.3991G>T (p.Ala1331Ser) c.2970G>T n.1065G>T n.3275G>T n.4098G>T c.4108G>T (p.Ala1370Ser) c.4087G>T (p.Ala1363Ser) c.4069G>T (p.Ala1357Ser) c.4051G>T (p.Ala1351Ser) c.4012G>T (p.Ala1338Ser) c.3973G>T (p.Ala1325Ser) c.3697G>T (p.Ala1233Ser) c.3658G>T (p.Ala1220Ser) c.4048G>T (p.Ala1350Ser) c.3955G>T (p.Ala1319Ser) c.3430G>T (p.Ala1144Ser) c.3745G>T (p.Ala1249Ser) n.8317G>T | |
3 | g.9475697C>A | CA351692803 | SETD5 | n.2890C>A c.4031C>A (p.Ala1344Asp) n.4924C>A n.2315C>A n.6177C>A c.3935C>A (p.Ala1312Asp) c.*4081C>A (n.*4081C>A) c.*4004C>A (n.*4004C>A) c.*4309C>A (n.*4309C>A) c.*4040C>A (n.*4040C>A) c.3641C>A (p.Ala1214Asp) c.2722+541C>A c.3992C>A (p.Ala1331Asp) c.2971C>A n.1066C>A n.3276C>A n.4099C>A c.4109C>A (p.Ala1370Asp) c.4088C>A (p.Ala1363Asp) c.4070C>A (p.Ala1357Asp) c.4052C>A (p.Ala1351Asp) c.4013C>A (p.Ala1338Asp) c.3974C>A (p.Ala1325Asp) c.3698C>A (p.Ala1233Asp) c.3659C>A (p.Ala1220Asp) c.4049C>A (p.Ala1350Asp) c.3956C>A (p.Ala1319Asp) c.3431C>A (p.Ala1144Asp) c.3746C>A (p.Ala1249Asp) n.8318C>A | |
3 | g.9475697C>G | CA351692813 | SETD5 | n.2890C>G c.4031C>G (p.Ala1344Gly) n.4924C>G n.2315C>G n.6177C>G c.3935C>G (p.Ala1312Gly) c.*4081C>G (n.*4081C>G) c.*4004C>G (n.*4004C>G) c.*4309C>G (n.*4309C>G) c.*4040C>G (n.*4040C>G) c.3641C>G (p.Ala1214Gly) c.2722+541C>G c.3992C>G (p.Ala1331Gly) c.2971C>G n.1066C>G n.3276C>G n.4099C>G c.4109C>G (p.Ala1370Gly) c.4088C>G (p.Ala1363Gly) c.4070C>G (p.Ala1357Gly) c.4052C>G (p.Ala1351Gly) c.4013C>G (p.Ala1338Gly) c.3974C>G (p.Ala1325Gly) c.3698C>G (p.Ala1233Gly) c.3659C>G (p.Ala1220Gly) c.4049C>G (p.Ala1350Gly) c.3956C>G (p.Ala1319Gly) c.3431C>G (p.Ala1144Gly) c.3746C>G (p.Ala1249Gly) n.8318C>G | |
3 | g.9475697C>T | CA351692815 | SETD5 | n.2890C>T c.4031C>T (p.Ala1344Val) n.4924C>T n.2315C>T n.6177C>T c.3935C>T (p.Ala1312Val) c.*4081C>T (n.*4081C>T) c.*4004C>T (n.*4004C>T) c.*4309C>T (n.*4309C>T) c.*4040C>T (n.*4040C>T) c.3641C>T (p.Ala1214Val) c.2722+541C>T c.3992C>T (p.Ala1331Val) c.2971C>T n.1066C>T n.3276C>T n.4099C>T c.4109C>T (p.Ala1370Val) c.4088C>T (p.Ala1363Val) c.4070C>T (p.Ala1357Val) c.4052C>T (p.Ala1351Val) c.4013C>T (p.Ala1338Val) c.3974C>T (p.Ala1325Val) c.3698C>T (p.Ala1233Val) c.3659C>T (p.Ala1220Val) c.4049C>T (p.Ala1350Val) c.3956C>T (p.Ala1319Val) c.3431C>T (p.Ala1144Val) c.3746C>T (p.Ala1249Val) n.8318C>T | |
3 | g.9475698C>A | CA432528928 | SETD5 | n.2891C>A c.4032C>A (p.Ala1344=) n.4925C>A n.2316C>A n.6178C>A c.3936C>A (p.Ala1312=) c.*4082C>A (n.*4082C>A) c.*4005C>A (n.*4005C>A) c.*4310C>A (n.*4310C>A) c.*4041C>A (n.*4041C>A) c.3642C>A (p.Ala1214=) c.2722+542C>A c.3993C>A (p.Ala1331=) c.2972C>A n.1067C>A n.3277C>A n.4100C>A c.4110C>A (p.Ala1370=) c.4089C>A (p.Ala1363=) c.4071C>A (p.Ala1357=) c.4053C>A (p.Ala1351=) c.4014C>A (p.Ala1338=) c.3975C>A (p.Ala1325=) c.3699C>A (p.Ala1233=) c.3660C>A (p.Ala1220=) c.4050C>A (p.Ala1350=) c.3957C>A (p.Ala1319=) c.3432C>A (p.Ala1144=) c.3747C>A (p.Ala1249=) n.8319C>A | ClinVar dbSNP |
3 | g.9475698C>G | CA432528930 | SETD5 | n.2891C>G c.4032C>G (p.Ala1344=) n.4925C>G n.2316C>G n.6178C>G c.3936C>G (p.Ala1312=) c.*4082C>G (n.*4082C>G) c.*4005C>G (n.*4005C>G) c.*4310C>G (n.*4310C>G) c.*4041C>G (n.*4041C>G) c.3642C>G (p.Ala1214=) c.2722+542C>G c.3993C>G (p.Ala1331=) c.2972C>G n.1067C>G n.3277C>G n.4100C>G c.4110C>G (p.Ala1370=) c.4089C>G (p.Ala1363=) c.4071C>G (p.Ala1357=) c.4053C>G (p.Ala1351=) c.4014C>G (p.Ala1338=) c.3975C>G (p.Ala1325=) c.3699C>G (p.Ala1233=) c.3660C>G (p.Ala1220=) c.4050C>G (p.Ala1350=) c.3957C>G (p.Ala1319=) c.3432C>G (p.Ala1144=) c.3747C>G (p.Ala1249=) n.8319C>G | |
3 | g.9475698C>T | CA432528933 | SETD5 | n.2891C>T c.4032C>T (p.Ala1344=) n.4925C>T n.2316C>T n.6178C>T c.3936C>T (p.Ala1312=) c.*4082C>T (n.*4082C>T) c.*4005C>T (n.*4005C>T) c.*4310C>T (n.*4310C>T) c.*4041C>T (n.*4041C>T) c.3642C>T (p.Ala1214=) c.2722+542C>T c.3993C>T (p.Ala1331=) c.2972C>T n.1067C>T n.3277C>T n.4100C>T c.4110C>T (p.Ala1370=) c.4089C>T (p.Ala1363=) c.4071C>T (p.Ala1357=) c.4053C>T (p.Ala1351=) c.4014C>T (p.Ala1338=) c.3975C>T (p.Ala1325=) c.3699C>T (p.Ala1233=) c.3660C>T (p.Ala1220=) c.4050C>T (p.Ala1350=) c.3957C>T (p.Ala1319=) c.3432C>T (p.Ala1144=) c.3747C>T (p.Ala1249=) n.8319C>T | |
3 | g.9475699C>A | CA351692820 | SETD5 | n.2892C>A c.4033C>A (p.Pro1345Thr) n.4926C>A n.2317C>A n.6179C>A c.3937C>A (p.Pro1313Thr) c.*4083C>A (n.*4083C>A) c.*4006C>A (n.*4006C>A) c.*4311C>A (n.*4311C>A) c.*4042C>A (n.*4042C>A) c.3643C>A (p.Pro1215Thr) c.2722+543C>A c.3994C>A (p.Pro1332Thr) c.2973C>A n.1068C>A n.3278C>A n.4101C>A c.4111C>A (p.Pro1371Thr) c.4090C>A (p.Pro1364Thr) c.4072C>A (p.Pro1358Thr) c.4054C>A (p.Pro1352Thr) c.4015C>A (p.Pro1339Thr) c.3976C>A (p.Pro1326Thr) c.3700C>A (p.Pro1234Thr) c.3661C>A (p.Pro1221Thr) c.4051C>A (p.Pro1351Thr) c.3958C>A (p.Pro1320Thr) c.3433C>A (p.Pro1145Thr) c.3748C>A (p.Pro1250Thr) n.8320C>A | gnomAD v4 |
3 | g.9475699C>G | CA351692825 | SETD5 | n.2892C>G c.4033C>G (p.Pro1345Ala) n.4926C>G n.2317C>G n.6179C>G c.3937C>G (p.Pro1313Ala) c.*4083C>G (n.*4083C>G) c.*4006C>G (n.*4006C>G) c.*4311C>G (n.*4311C>G) c.*4042C>G (n.*4042C>G) c.3643C>G (p.Pro1215Ala) c.2722+543C>G c.3994C>G (p.Pro1332Ala) c.2973C>G n.1068C>G n.3278C>G n.4101C>G c.4111C>G (p.Pro1371Ala) c.4090C>G (p.Pro1364Ala) c.4072C>G (p.Pro1358Ala) c.4054C>G (p.Pro1352Ala) c.4015C>G (p.Pro1339Ala) c.3976C>G (p.Pro1326Ala) c.3700C>G (p.Pro1234Ala) c.3661C>G (p.Pro1221Ala) c.4051C>G (p.Pro1351Ala) c.3958C>G (p.Pro1320Ala) c.3433C>G (p.Pro1145Ala) c.3748C>G (p.Pro1250Ala) n.8320C>G | |
3 | g.9475699C>T | CA351692829 | SETD5 | n.2892C>T c.4033C>T (p.Pro1345Ser) n.4926C>T n.2317C>T n.6179C>T c.3937C>T (p.Pro1313Ser) c.*4083C>T (n.*4083C>T) c.*4006C>T (n.*4006C>T) c.*4311C>T (n.*4311C>T) c.*4042C>T (n.*4042C>T) c.3643C>T (p.Pro1215Ser) c.2722+543C>T c.3994C>T (p.Pro1332Ser) c.2973C>T n.1068C>T n.3278C>T n.4101C>T c.4111C>T (p.Pro1371Ser) c.4090C>T (p.Pro1364Ser) c.4072C>T (p.Pro1358Ser) c.4054C>T (p.Pro1352Ser) c.4015C>T (p.Pro1339Ser) c.3976C>T (p.Pro1326Ser) c.3700C>T (p.Pro1234Ser) c.3661C>T (p.Pro1221Ser) c.4051C>T (p.Pro1351Ser) c.3958C>T (p.Pro1320Ser) c.3433C>T (p.Pro1145Ser) c.3748C>T (p.Pro1250Ser) n.8320C>T | |
3 | g.9475700C>A | CA351692837 | SETD5 | n.2893C>A c.4034C>A (p.Pro1345Gln) n.4927C>A n.2318C>A n.6180C>A c.3938C>A (p.Pro1313Gln) c.*4084C>A (n.*4084C>A) c.*4007C>A (n.*4007C>A) c.*4312C>A (n.*4312C>A) c.*4043C>A (n.*4043C>A) c.3644C>A (p.Pro1215Gln) c.2722+544C>A c.3995C>A (p.Pro1332Gln) c.2974C>A n.1069C>A n.3279C>A n.4102C>A c.4112C>A (p.Pro1371Gln) c.4091C>A (p.Pro1364Gln) c.4073C>A (p.Pro1358Gln) c.4055C>A (p.Pro1352Gln) c.4016C>A (p.Pro1339Gln) c.3977C>A (p.Pro1326Gln) c.3701C>A (p.Pro1234Gln) c.3662C>A (p.Pro1221Gln) c.4052C>A (p.Pro1351Gln) c.3959C>A (p.Pro1320Gln) c.3434C>A (p.Pro1145Gln) c.3749C>A (p.Pro1250Gln) n.8321C>A | |
3 | g.9475700C= | CA1344742680 | SETD5 | n.2893C= c.4034C= (p.Pro1345=) n.4927C= n.2318C= n.6180C= c.3938C= (p.Pro1313=) c.*4084C= (n.*4084C=) c.*4007C= (n.*4007C=) c.*4312C= (n.*4312C=) c.*4043C= (n.*4043C=) c.3644C= (p.Pro1215=) c.2722+544C= c.3995C= (p.Pro1332=) c.2974C= n.1069C= n.3279C= n.4102C= c.4112C= (p.Pro1371=) c.4091C= (p.Pro1364=) c.4073C= (p.Pro1358=) c.4055C= (p.Pro1352=) c.4016C= (p.Pro1339=) c.3977C= (p.Pro1326=) c.3701C= (p.Pro1234=) c.3662C= (p.Pro1221=) c.4052C= (p.Pro1351=) c.3959C= (p.Pro1320=) c.3434C= (p.Pro1145=) c.3749C= (p.Pro1250=) n.8321C= | |
3 | g.9475700C>G | CA351692848 | SETD5 | n.2893C>G c.4034C>G (p.Pro1345Arg) n.4927C>G n.2318C>G n.6180C>G c.3938C>G (p.Pro1313Arg) c.*4084C>G (n.*4084C>G) c.*4007C>G (n.*4007C>G) c.*4312C>G (n.*4312C>G) c.*4043C>G (n.*4043C>G) c.3644C>G (p.Pro1215Arg) c.2722+544C>G c.3995C>G (p.Pro1332Arg) c.2974C>G n.1069C>G n.3279C>G n.4102C>G c.4112C>G (p.Pro1371Arg) c.4091C>G (p.Pro1364Arg) c.4073C>G (p.Pro1358Arg) c.4055C>G (p.Pro1352Arg) c.4016C>G (p.Pro1339Arg) c.3977C>G (p.Pro1326Arg) c.3701C>G (p.Pro1234Arg) c.3662C>G (p.Pro1221Arg) c.4052C>G (p.Pro1351Arg) c.3959C>G (p.Pro1320Arg) c.3434C>G (p.Pro1145Arg) c.3749C>G (p.Pro1250Arg) n.8321C>G | |
3 | g.9475700C>T | CA69951975 | SETD5 | n.2893C>T c.4034C>T (p.Pro1345Leu) n.4927C>T n.2318C>T n.6180C>T c.3938C>T (p.Pro1313Leu) c.*4084C>T (n.*4084C>T) c.*4007C>T (n.*4007C>T) c.*4312C>T (n.*4312C>T) c.*4043C>T (n.*4043C>T) c.3644C>T (p.Pro1215Leu) c.2722+544C>T c.3995C>T (p.Pro1332Leu) c.2974C>T n.1069C>T n.3279C>T n.4102C>T c.4112C>T (p.Pro1371Leu) c.4091C>T (p.Pro1364Leu) c.4073C>T (p.Pro1358Leu) c.4055C>T (p.Pro1352Leu) c.4016C>T (p.Pro1339Leu) c.3977C>T (p.Pro1326Leu) c.3701C>T (p.Pro1234Leu) c.3662C>T (p.Pro1221Leu) c.4052C>T (p.Pro1351Leu) c.3959C>T (p.Pro1320Leu) c.3434C>T (p.Pro1145Leu) c.3749C>T (p.Pro1250Leu) n.8321C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475701A>C | CA432528944 | SETD5 | n.2894A>C c.4035A>C (p.Pro1345=) n.4928A>C n.2319A>C n.6181A>C c.3939A>C (p.Pro1313=) c.*4085A>C (n.*4085A>C) c.*4008A>C (n.*4008A>C) c.*4313A>C (n.*4313A>C) c.*4044A>C (n.*4044A>C) c.3645A>C (p.Pro1215=) c.2722+545A>C c.3996A>C (p.Pro1332=) c.2975A>C n.1070A>C n.3280A>C n.4103A>C c.4113A>C (p.Pro1371=) c.4092A>C (p.Pro1364=) c.4074A>C (p.Pro1358=) c.4056A>C (p.Pro1352=) c.4017A>C (p.Pro1339=) c.3978A>C (p.Pro1326=) c.3702A>C (p.Pro1234=) c.3663A>C (p.Pro1221=) c.4053A>C (p.Pro1351=) c.3960A>C (p.Pro1320=) c.3435A>C (p.Pro1145=) c.3750A>C (p.Pro1250=) n.8322A>C | |
3 | g.9475701A>G | CA432528943 | SETD5 | n.2894A>G c.4035A>G (p.Pro1345=) n.4928A>G n.2319A>G n.6181A>G c.3939A>G (p.Pro1313=) c.*4085A>G (n.*4085A>G) c.*4008A>G (n.*4008A>G) c.*4313A>G (n.*4313A>G) c.*4044A>G (n.*4044A>G) c.3645A>G (p.Pro1215=) c.2722+545A>G c.3996A>G (p.Pro1332=) c.2975A>G n.1070A>G n.3280A>G n.4103A>G c.4113A>G (p.Pro1371=) c.4092A>G (p.Pro1364=) c.4074A>G (p.Pro1358=) c.4056A>G (p.Pro1352=) c.4017A>G (p.Pro1339=) c.3978A>G (p.Pro1326=) c.3702A>G (p.Pro1234=) c.3663A>G (p.Pro1221=) c.4053A>G (p.Pro1351=) c.3960A>G (p.Pro1320=) c.3435A>G (p.Pro1145=) c.3750A>G (p.Pro1250=) n.8322A>G | ClinVar dbSNP gnomAD v4 |
3 | g.9475701A>T | CA432528942 | SETD5 | n.2894A>T c.4035A>T (p.Pro1345=) n.4928A>T n.2319A>T n.6181A>T c.3939A>T (p.Pro1313=) c.*4085A>T (n.*4085A>T) c.*4008A>T (n.*4008A>T) c.*4313A>T (n.*4313A>T) c.*4044A>T (n.*4044A>T) c.3645A>T (p.Pro1215=) c.2722+545A>T c.3996A>T (p.Pro1332=) c.2975A>T n.1070A>T n.3280A>T n.4103A>T c.4113A>T (p.Pro1371=) c.4092A>T (p.Pro1364=) c.4074A>T (p.Pro1358=) c.4056A>T (p.Pro1352=) c.4017A>T (p.Pro1339=) c.3978A>T (p.Pro1326=) c.3702A>T (p.Pro1234=) c.3663A>T (p.Pro1221=) c.4053A>T (p.Pro1351=) c.3960A>T (p.Pro1320=) c.3435A>T (p.Pro1145=) c.3750A>T (p.Pro1250=) n.8322A>T | gnomAD v4 |
3 | g.9475702T>A | CA2239836 | SETD5 | n.2895T>A c.4036T>A (p.Phe1346Ile) n.4929T>A n.2320T>A n.6182T>A c.3940T>A (p.Phe1314Ile) c.*4086T>A (n.*4086T>A) c.*4009T>A (n.*4009T>A) c.*4314T>A (n.*4314T>A) c.*4045T>A (n.*4045T>A) c.3646T>A (p.Phe1216Ile) c.2722+546T>A c.3997T>A (p.Phe1333Ile) c.2976T>A n.1071T>A n.3281T>A n.4104T>A c.4114T>A (p.Phe1372Ile) c.4093T>A (p.Phe1365Ile) c.4075T>A (p.Phe1359Ile) c.4057T>A (p.Phe1353Ile) c.4018T>A (p.Phe1340Ile) c.3979T>A (p.Phe1327Ile) c.3703T>A (p.Phe1235Ile) c.3664T>A (p.Phe1222Ile) c.4054T>A (p.Phe1352Ile) c.3961T>A (p.Phe1321Ile) c.3436T>A (p.Phe1146Ile) c.3751T>A (p.Phe1251Ile) n.8323T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475702T>C | CA351692869 | SETD5 | n.2895T>C c.4036T>C (p.Phe1346Leu) n.4929T>C n.2320T>C n.6182T>C c.3940T>C (p.Phe1314Leu) c.*4086T>C (n.*4086T>C) c.*4009T>C (n.*4009T>C) c.*4314T>C (n.*4314T>C) c.*4045T>C (n.*4045T>C) c.3646T>C (p.Phe1216Leu) c.2722+546T>C c.3997T>C (p.Phe1333Leu) c.2976T>C n.1071T>C n.3281T>C n.4104T>C c.4114T>C (p.Phe1372Leu) c.4093T>C (p.Phe1365Leu) c.4075T>C (p.Phe1359Leu) c.4057T>C (p.Phe1353Leu) c.4018T>C (p.Phe1340Leu) c.3979T>C (p.Phe1327Leu) c.3703T>C (p.Phe1235Leu) c.3664T>C (p.Phe1222Leu) c.4054T>C (p.Phe1352Leu) c.3961T>C (p.Phe1321Leu) c.3436T>C (p.Phe1146Leu) c.3751T>C (p.Phe1251Leu) n.8323T>C | |
3 | g.9475702T>G | CA351692871 | SETD5 | n.2895T>G c.4036T>G (p.Phe1346Val) n.4929T>G n.2320T>G n.6182T>G c.3940T>G (p.Phe1314Val) c.*4086T>G (n.*4086T>G) c.*4009T>G (n.*4009T>G) c.*4314T>G (n.*4314T>G) c.*4045T>G (n.*4045T>G) c.3646T>G (p.Phe1216Val) c.2722+546T>G c.3997T>G (p.Phe1333Val) c.2976T>G n.1071T>G n.3281T>G n.4104T>G c.4114T>G (p.Phe1372Val) c.4093T>G (p.Phe1365Val) c.4075T>G (p.Phe1359Val) c.4057T>G (p.Phe1353Val) c.4018T>G (p.Phe1340Val) c.3979T>G (p.Phe1327Val) c.3703T>G (p.Phe1235Val) c.3664T>G (p.Phe1222Val) c.4054T>G (p.Phe1352Val) c.3961T>G (p.Phe1321Val) c.3436T>G (p.Phe1146Val) c.3751T>G (p.Phe1251Val) n.8323T>G | |
3 | g.9475702T= | CA1344742685 | SETD5 | n.2895T= c.4036T= (p.Phe1346=) n.4929T= n.2320T= n.6182T= c.3940T= (p.Phe1314=) c.*4086T= (n.*4086T=) c.*4009T= (n.*4009T=) c.*4314T= (n.*4314T=) c.*4045T= (n.*4045T=) c.3646T= (p.Phe1216=) c.2722+546T= c.3997T= (p.Phe1333=) c.2976T= n.1071T= n.3281T= n.4104T= c.4114T= (p.Phe1372=) c.4093T= (p.Phe1365=) c.4075T= (p.Phe1359=) c.4057T= (p.Phe1353=) c.4018T= (p.Phe1340=) c.3979T= (p.Phe1327=) c.3703T= (p.Phe1235=) c.3664T= (p.Phe1222=) c.4054T= (p.Phe1352=) c.3961T= (p.Phe1321=) c.3436T= (p.Phe1146=) c.3751T= (p.Phe1251=) n.8323T= | |
3 | g.9475703T>A | CA351692889 | SETD5 | n.2896T>A c.4037T>A (p.Phe1346Tyr) n.4930T>A n.2321T>A n.6183T>A c.3941T>A (p.Phe1314Tyr) c.*4087T>A (n.*4087T>A) c.*4010T>A (n.*4010T>A) c.*4315T>A (n.*4315T>A) c.*4046T>A (n.*4046T>A) c.3647T>A (p.Phe1216Tyr) c.2722+547T>A c.3998T>A (p.Phe1333Tyr) c.2977T>A n.1072T>A n.3282T>A n.4105T>A c.4115T>A (p.Phe1372Tyr) c.4094T>A (p.Phe1365Tyr) c.4076T>A (p.Phe1359Tyr) c.4058T>A (p.Phe1353Tyr) c.4019T>A (p.Phe1340Tyr) c.3980T>A (p.Phe1327Tyr) c.3704T>A (p.Phe1235Tyr) c.3665T>A (p.Phe1222Tyr) c.4055T>A (p.Phe1352Tyr) c.3962T>A (p.Phe1321Tyr) c.3437T>A (p.Phe1146Tyr) c.3752T>A (p.Phe1251Tyr) n.8324T>A | |
3 | g.9475703T>C | CA2239837 | SETD5 | n.2896T>C c.4037T>C (p.Phe1346Ser) n.4930T>C n.2321T>C n.6183T>C c.3941T>C (p.Phe1314Ser) c.*4087T>C (n.*4087T>C) c.*4010T>C (n.*4010T>C) c.*4315T>C (n.*4315T>C) c.*4046T>C (n.*4046T>C) c.3647T>C (p.Phe1216Ser) c.2722+547T>C c.3998T>C (p.Phe1333Ser) c.2977T>C n.1072T>C n.3282T>C n.4105T>C c.4115T>C (p.Phe1372Ser) c.4094T>C (p.Phe1365Ser) c.4076T>C (p.Phe1359Ser) c.4058T>C (p.Phe1353Ser) c.4019T>C (p.Phe1340Ser) c.3980T>C (p.Phe1327Ser) c.3704T>C (p.Phe1235Ser) c.3665T>C (p.Phe1222Ser) c.4055T>C (p.Phe1352Ser) c.3962T>C (p.Phe1321Ser) c.3437T>C (p.Phe1146Ser) c.3752T>C (p.Phe1251Ser) n.8324T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475703T>G | CA351692879 | SETD5 | n.2896T>G c.4037T>G (p.Phe1346Cys) n.4930T>G n.2321T>G n.6183T>G c.3941T>G (p.Phe1314Cys) c.*4087T>G (n.*4087T>G) c.*4010T>G (n.*4010T>G) c.*4315T>G (n.*4315T>G) c.*4046T>G (n.*4046T>G) c.3647T>G (p.Phe1216Cys) c.2722+547T>G c.3998T>G (p.Phe1333Cys) c.2977T>G n.1072T>G n.3282T>G n.4105T>G c.4115T>G (p.Phe1372Cys) c.4094T>G (p.Phe1365Cys) c.4076T>G (p.Phe1359Cys) c.4058T>G (p.Phe1353Cys) c.4019T>G (p.Phe1340Cys) c.3980T>G (p.Phe1327Cys) c.3704T>G (p.Phe1235Cys) c.3665T>G (p.Phe1222Cys) c.4055T>G (p.Phe1352Cys) c.3962T>G (p.Phe1321Cys) c.3437T>G (p.Phe1146Cys) c.3752T>G (p.Phe1251Cys) n.8324T>G | |
3 | g.9475703T= | CA1344742690 | SETD5 | n.2896T= c.4037T= (p.Phe1346=) n.4930T= n.2321T= n.6183T= c.3941T= (p.Phe1314=) c.*4087T= (n.*4087T=) c.*4010T= (n.*4010T=) c.*4315T= (n.*4315T=) c.*4046T= (n.*4046T=) c.3647T= (p.Phe1216=) c.2722+547T= c.3998T= (p.Phe1333=) c.2977T= n.1072T= n.3282T= n.4105T= c.4115T= (p.Phe1372=) c.4094T= (p.Phe1365=) c.4076T= (p.Phe1359=) c.4058T= (p.Phe1353=) c.4019T= (p.Phe1340=) c.3980T= (p.Phe1327=) c.3704T= (p.Phe1235=) c.3665T= (p.Phe1222=) c.4055T= (p.Phe1352=) c.3962T= (p.Phe1321=) c.3437T= (p.Phe1146=) c.3752T= (p.Phe1251=) n.8324T= | |
3 | g.9475704T>A | CA351692891 | SETD5 | n.2897T>A c.4038T>A (p.Phe1346Leu) n.4931T>A n.2322T>A n.6184T>A c.3942T>A (p.Phe1314Leu) c.*4088T>A (n.*4088T>A) c.*4011T>A (n.*4011T>A) c.*4316T>A (n.*4316T>A) c.*4047T>A (n.*4047T>A) c.3648T>A (p.Phe1216Leu) c.2722+548T>A c.3999T>A (p.Phe1333Leu) c.2978T>A n.1073T>A n.3283T>A n.4106T>A c.4116T>A (p.Phe1372Leu) c.4095T>A (p.Phe1365Leu) c.4077T>A (p.Phe1359Leu) c.4059T>A (p.Phe1353Leu) c.4020T>A (p.Phe1340Leu) c.3981T>A (p.Phe1327Leu) c.3705T>A (p.Phe1235Leu) c.3666T>A (p.Phe1222Leu) c.4056T>A (p.Phe1352Leu) c.3963T>A (p.Phe1321Leu) c.3438T>A (p.Phe1146Leu) c.3753T>A (p.Phe1251Leu) n.8325T>A | |
3 | g.9475704T>C | CA432528948 | SETD5 | n.2897T>C c.4038T>C (p.Phe1346=) n.4931T>C n.2322T>C n.6184T>C c.3942T>C (p.Phe1314=) c.*4088T>C (n.*4088T>C) c.*4011T>C (n.*4011T>C) c.*4316T>C (n.*4316T>C) c.*4047T>C (n.*4047T>C) c.3648T>C (p.Phe1216=) c.2722+548T>C c.3999T>C (p.Phe1333=) c.2978T>C n.1073T>C n.3283T>C n.4106T>C c.4116T>C (p.Phe1372=) c.4095T>C (p.Phe1365=) c.4077T>C (p.Phe1359=) c.4059T>C (p.Phe1353=) c.4020T>C (p.Phe1340=) c.3981T>C (p.Phe1327=) c.3705T>C (p.Phe1235=) c.3666T>C (p.Phe1222=) c.4056T>C (p.Phe1352=) c.3963T>C (p.Phe1321=) c.3438T>C (p.Phe1146=) c.3753T>C (p.Phe1251=) n.8325T>C | |
3 | g.9475704T>G | CA351692892 | SETD5 | n.2897T>G c.4038T>G (p.Phe1346Leu) n.4931T>G n.2322T>G n.6184T>G c.3942T>G (p.Phe1314Leu) c.*4088T>G (n.*4088T>G) c.*4011T>G (n.*4011T>G) c.*4316T>G (n.*4316T>G) c.*4047T>G (n.*4047T>G) c.3648T>G (p.Phe1216Leu) c.2722+548T>G c.3999T>G (p.Phe1333Leu) c.2978T>G n.1073T>G n.3283T>G n.4106T>G c.4116T>G (p.Phe1372Leu) c.4095T>G (p.Phe1365Leu) c.4077T>G (p.Phe1359Leu) c.4059T>G (p.Phe1353Leu) c.4020T>G (p.Phe1340Leu) c.3981T>G (p.Phe1327Leu) c.3705T>G (p.Phe1235Leu) c.3666T>G (p.Phe1222Leu) c.4056T>G (p.Phe1352Leu) c.3963T>G (p.Phe1321Leu) c.3438T>G (p.Phe1146Leu) c.3753T>G (p.Phe1251Leu) n.8325T>G | |
3 | g.9475705A>C | CA351692895 | SETD5 | n.2898A>C c.4039A>C (p.Thr1347Pro) n.4932A>C n.2323A>C n.6185A>C c.3943A>C (p.Thr1315Pro) c.*4089A>C (n.*4089A>C) c.*4012A>C (n.*4012A>C) c.*4317A>C (n.*4317A>C) c.*4048A>C (n.*4048A>C) c.3649A>C (p.Thr1217Pro) c.2722+549A>C c.4000A>C (p.Thr1334Pro) c.2979A>C n.1074A>C n.3284A>C n.4107A>C c.4117A>C (p.Thr1373Pro) c.4096A>C (p.Thr1366Pro) c.4078A>C (p.Thr1360Pro) c.4060A>C (p.Thr1354Pro) c.4021A>C (p.Thr1341Pro) c.3982A>C (p.Thr1328Pro) c.3706A>C (p.Thr1236Pro) c.3667A>C (p.Thr1223Pro) c.4057A>C (p.Thr1353Pro) c.3964A>C (p.Thr1322Pro) c.3439A>C (p.Thr1147Pro) c.3754A>C (p.Thr1252Pro) n.8326A>C | |
3 | g.9475705A>G | CA351692897 | SETD5 | n.2898A>G c.4039A>G (p.Thr1347Ala) n.4932A>G n.2323A>G n.6185A>G c.3943A>G (p.Thr1315Ala) c.*4089A>G (n.*4089A>G) c.*4012A>G (n.*4012A>G) c.*4317A>G (n.*4317A>G) c.*4048A>G (n.*4048A>G) c.3649A>G (p.Thr1217Ala) c.2722+549A>G c.4000A>G (p.Thr1334Ala) c.2979A>G n.1074A>G n.3284A>G n.4107A>G c.4117A>G (p.Thr1373Ala) c.4096A>G (p.Thr1366Ala) c.4078A>G (p.Thr1360Ala) c.4060A>G (p.Thr1354Ala) c.4021A>G (p.Thr1341Ala) c.3982A>G (p.Thr1328Ala) c.3706A>G (p.Thr1236Ala) c.3667A>G (p.Thr1223Ala) c.4057A>G (p.Thr1353Ala) c.3964A>G (p.Thr1322Ala) c.3439A>G (p.Thr1147Ala) c.3754A>G (p.Thr1252Ala) n.8326A>G | |
3 | g.9475705A>T | CA351692900 | SETD5 | n.2898A>T c.4039A>T (p.Thr1347Ser) n.4932A>T n.2323A>T n.6185A>T c.3943A>T (p.Thr1315Ser) c.*4089A>T (n.*4089A>T) c.*4012A>T (n.*4012A>T) c.*4317A>T (n.*4317A>T) c.*4048A>T (n.*4048A>T) c.3649A>T (p.Thr1217Ser) c.2722+549A>T c.4000A>T (p.Thr1334Ser) c.2979A>T n.1074A>T n.3284A>T n.4107A>T c.4117A>T (p.Thr1373Ser) c.4096A>T (p.Thr1366Ser) c.4078A>T (p.Thr1360Ser) c.4060A>T (p.Thr1354Ser) c.4021A>T (p.Thr1341Ser) c.3982A>T (p.Thr1328Ser) c.3706A>T (p.Thr1236Ser) c.3667A>T (p.Thr1223Ser) c.4057A>T (p.Thr1353Ser) c.3964A>T (p.Thr1322Ser) c.3439A>T (p.Thr1147Ser) c.3754A>T (p.Thr1252Ser) n.8326A>T | |
3 | g.9475706C>A | CA351692903 | SETD5 | n.2899C>A c.4040C>A (p.Thr1347Lys) n.4933C>A n.2324C>A n.6186C>A c.3944C>A (p.Thr1315Lys) c.*4090C>A (n.*4090C>A) c.*4013C>A (n.*4013C>A) c.*4318C>A (n.*4318C>A) c.*4049C>A (n.*4049C>A) c.3650C>A (p.Thr1217Lys) c.2722+550C>A c.4001C>A (p.Thr1334Lys) c.2980C>A n.3285C>A n.4108C>A c.4118C>A (p.Thr1373Lys) c.4097C>A (p.Thr1366Lys) c.4079C>A (p.Thr1360Lys) c.4061C>A (p.Thr1354Lys) c.4022C>A (p.Thr1341Lys) c.3983C>A (p.Thr1328Lys) c.3707C>A (p.Thr1236Lys) c.3668C>A (p.Thr1223Lys) c.4058C>A (p.Thr1353Lys) c.3965C>A (p.Thr1322Lys) c.3440C>A (p.Thr1147Lys) c.3755C>A (p.Thr1252Lys) n.8327C>A | |
3 | g.9475706C= | CA1344742696 | SETD5 | n.2899C= c.4040C= (p.Thr1347=) n.4933C= n.2324C= n.6186C= c.3944C= (p.Thr1315=) c.*4090C= (n.*4090C=) c.*4013C= (n.*4013C=) c.*4318C= (n.*4318C=) c.*4049C= (n.*4049C=) c.3650C= (p.Thr1217=) c.2722+550C= c.4001C= (p.Thr1334=) c.2980C= n.3285C= n.4108C= c.4118C= (p.Thr1373=) c.4097C= (p.Thr1366=) c.4079C= (p.Thr1360=) c.4061C= (p.Thr1354=) c.4022C= (p.Thr1341=) c.3983C= (p.Thr1328=) c.3707C= (p.Thr1236=) c.3668C= (p.Thr1223=) c.4058C= (p.Thr1353=) c.3965C= (p.Thr1322=) c.3440C= (p.Thr1147=) c.3755C= (p.Thr1252=) n.8327C= | |
3 | g.9475706C>G | CA351692907 | SETD5 | n.2899C>G c.4040C>G (p.Thr1347Arg) n.4933C>G n.2324C>G n.6186C>G c.3944C>G (p.Thr1315Arg) c.*4090C>G (n.*4090C>G) c.*4013C>G (n.*4013C>G) c.*4318C>G (n.*4318C>G) c.*4049C>G (n.*4049C>G) c.3650C>G (p.Thr1217Arg) c.2722+550C>G c.4001C>G (p.Thr1334Arg) c.2980C>G n.3285C>G n.4108C>G c.4118C>G (p.Thr1373Arg) c.4097C>G (p.Thr1366Arg) c.4079C>G (p.Thr1360Arg) c.4061C>G (p.Thr1354Arg) c.4022C>G (p.Thr1341Arg) c.3983C>G (p.Thr1328Arg) c.3707C>G (p.Thr1236Arg) c.3668C>G (p.Thr1223Arg) c.4058C>G (p.Thr1353Arg) c.3965C>G (p.Thr1322Arg) c.3440C>G (p.Thr1147Arg) c.3755C>G (p.Thr1252Arg) n.8327C>G | |
3 | g.9475706C>T | CA2239838 | SETD5 | n.2899C>T c.4040C>T (p.Thr1347Met) n.4933C>T n.2324C>T n.6186C>T c.3944C>T (p.Thr1315Met) c.*4090C>T (n.*4090C>T) c.*4013C>T (n.*4013C>T) c.*4318C>T (n.*4318C>T) c.*4049C>T (n.*4049C>T) c.3650C>T (p.Thr1217Met) c.2722+550C>T c.4001C>T (p.Thr1334Met) c.2980C>T n.3285C>T n.4108C>T c.4118C>T (p.Thr1373Met) c.4097C>T (p.Thr1366Met) c.4079C>T (p.Thr1360Met) c.4061C>T (p.Thr1354Met) c.4022C>T (p.Thr1341Met) c.3983C>T (p.Thr1328Met) c.3707C>T (p.Thr1236Met) c.3668C>T (p.Thr1223Met) c.4058C>T (p.Thr1353Met) c.3965C>T (p.Thr1322Met) c.3440C>T (p.Thr1147Met) c.3755C>T (p.Thr1252Met) n.8327C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475707G>A | CA2239839 | SETD5 | n.2900G>A c.4041G>A (p.Thr1347=) n.4934G>A n.2325G>A n.6187G>A c.3945G>A (p.Thr1315=) c.*4091G>A (n.*4091G>A) c.*4014G>A (n.*4014G>A) c.*4319G>A (n.*4319G>A) c.*4050G>A (n.*4050G>A) c.3651G>A (p.Thr1217=) c.2722+551G>A c.4002G>A (p.Thr1334=) c.2981G>A n.3286G>A n.4109G>A c.4119G>A (p.Thr1373=) c.4098G>A (p.Thr1366=) c.4080G>A (p.Thr1360=) c.4062G>A (p.Thr1354=) c.4023G>A (p.Thr1341=) c.3984G>A (p.Thr1328=) c.3708G>A (p.Thr1236=) c.3669G>A (p.Thr1223=) c.4059G>A (p.Thr1353=) c.3966G>A (p.Thr1322=) c.3441G>A (p.Thr1147=) c.3756G>A (p.Thr1252=) n.8328G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475707G>C | CA432528953 | SETD5 | n.2900G>C c.4041G>C (p.Thr1347=) n.4934G>C n.2325G>C n.6187G>C c.3945G>C (p.Thr1315=) c.*4091G>C (n.*4091G>C) c.*4014G>C (n.*4014G>C) c.*4319G>C (n.*4319G>C) c.*4050G>C (n.*4050G>C) c.3651G>C (p.Thr1217=) c.2722+551G>C c.4002G>C (p.Thr1334=) c.2981G>C n.3286G>C n.4109G>C c.4119G>C (p.Thr1373=) c.4098G>C (p.Thr1366=) c.4080G>C (p.Thr1360=) c.4062G>C (p.Thr1354=) c.4023G>C (p.Thr1341=) c.3984G>C (p.Thr1328=) c.3708G>C (p.Thr1236=) c.3669G>C (p.Thr1223=) c.4059G>C (p.Thr1353=) c.3966G>C (p.Thr1322=) c.3441G>C (p.Thr1147=) c.3756G>C (p.Thr1252=) n.8328G>C | |
3 | g.9475707G= | CA1344742703 | SETD5 | n.2900G= c.4041G= (p.Thr1347=) n.4934G= n.2325G= n.6187G= c.3945G= (p.Thr1315=) c.*4091G= (n.*4091G=) c.*4014G= (n.*4014G=) c.*4319G= (n.*4319G=) c.*4050G= (n.*4050G=) c.3651G= (p.Thr1217=) c.2722+551G= c.4002G= (p.Thr1334=) c.2981G= n.3286G= n.4109G= c.4119G= (p.Thr1373=) c.4098G= (p.Thr1366=) c.4080G= (p.Thr1360=) c.4062G= (p.Thr1354=) c.4023G= (p.Thr1341=) c.3984G= (p.Thr1328=) c.3708G= (p.Thr1236=) c.3669G= (p.Thr1223=) c.4059G= (p.Thr1353=) c.3966G= (p.Thr1322=) c.3441G= (p.Thr1147=) c.3756G= (p.Thr1252=) n.8328G= | |
3 | g.9475707G>T | CA432528952 | SETD5 | n.2900G>T c.4041G>T (p.Thr1347=) n.4934G>T n.2325G>T n.6187G>T c.3945G>T (p.Thr1315=) c.*4091G>T (n.*4091G>T) c.*4014G>T (n.*4014G>T) c.*4319G>T (n.*4319G>T) c.*4050G>T (n.*4050G>T) c.3651G>T (p.Thr1217=) c.2722+551G>T c.4002G>T (p.Thr1334=) c.2981G>T n.3286G>T n.4109G>T c.4119G>T (p.Thr1373=) c.4098G>T (p.Thr1366=) c.4080G>T (p.Thr1360=) c.4062G>T (p.Thr1354=) c.4023G>T (p.Thr1341=) c.3984G>T (p.Thr1328=) c.3708G>T (p.Thr1236=) c.3669G>T (p.Thr1223=) c.4059G>T (p.Thr1353=) c.3966G>T (p.Thr1322=) c.3441G>T (p.Thr1147=) c.3756G>T (p.Thr1252=) n.8328G>T | |
3 | g.9475710del | CA645526498 | SETD5 | n.2903del c.4044del (p.Thr1349HisfsTer?) n.4937del n.2328del n.6190del c.3948del (p.Thr1317HisfsTer?) c.*4094del (n.*4094del) c.*4017del (n.*4017del) c.*4322del (n.*4322del) c.*4053del (n.*4053del) c.3654del (p.Thr1219HisfsTer?) c.2722+554del c.4005del (p.Thr1336HisfsTer?) c.2984del n.3289del n.4112del c.4122del (p.Thr1375HisfsTer?) c.4101del (p.Thr1368HisfsTer?) c.4083del (p.Thr1362HisfsTer?) c.4065del (p.Thr1356HisfsTer?) c.4026del (p.Thr1343HisfsTer?) c.3987del (p.Thr1330HisfsTer?) c.3711del (p.Thr1238HisfsTer?) c.3672del (p.Thr1225HisfsTer?) c.4062del (p.Thr1355HisfsTer?) c.3969del (p.Thr1324HisfsTer?) c.3444del (p.Thr1149HisfsTer?) c.3759del (p.Thr1254HisfsTer?) n.8331del | COSMIC COSMIC |
3 | g.9475708G>A | CA351692930 | SETD5 | n.2901G>A c.4042G>A (p.Gly1348Arg) n.4935G>A n.2326G>A n.6188G>A c.3946G>A (p.Gly1316Arg) c.*4092G>A (n.*4092G>A) c.*4015G>A (n.*4015G>A) c.*4320G>A (n.*4320G>A) c.*4051G>A (n.*4051G>A) c.3652G>A (p.Gly1218Arg) c.2722+552G>A c.4003G>A (p.Gly1335Arg) c.2982G>A n.3287G>A n.4110G>A c.4120G>A (p.Gly1374Arg) c.4099G>A (p.Gly1367Arg) c.4081G>A (p.Gly1361Arg) c.4063G>A (p.Gly1355Arg) c.4024G>A (p.Gly1342Arg) c.3985G>A (p.Gly1329Arg) c.3709G>A (p.Gly1237Arg) c.3670G>A (p.Gly1224Arg) c.4060G>A (p.Gly1354Arg) c.3967G>A (p.Gly1323Arg) c.3442G>A (p.Gly1148Arg) c.3757G>A (p.Gly1253Arg) n.8329G>A | dbSNP gnomAD v2 |
3 | g.9475708G>C | CA351692933 | SETD5 | n.2901G>C c.4042G>C (p.Gly1348Arg) n.4935G>C n.2326G>C n.6188G>C c.3946G>C (p.Gly1316Arg) c.*4092G>C (n.*4092G>C) c.*4015G>C (n.*4015G>C) c.*4320G>C (n.*4320G>C) c.*4051G>C (n.*4051G>C) c.3652G>C (p.Gly1218Arg) c.2722+552G>C c.4003G>C (p.Gly1335Arg) c.2982G>C n.3287G>C n.4110G>C c.4120G>C (p.Gly1374Arg) c.4099G>C (p.Gly1367Arg) c.4081G>C (p.Gly1361Arg) c.4063G>C (p.Gly1355Arg) c.4024G>C (p.Gly1342Arg) c.3985G>C (p.Gly1329Arg) c.3709G>C (p.Gly1237Arg) c.3670G>C (p.Gly1224Arg) c.4060G>C (p.Gly1354Arg) c.3967G>C (p.Gly1323Arg) c.3442G>C (p.Gly1148Arg) c.3757G>C (p.Gly1253Arg) n.8329G>C | |
3 | g.9475708G= | CA1344742707 | SETD5 | n.2901G= c.4042G= (p.Gly1348=) n.4935G= n.2326G= n.6188G= c.3946G= (p.Gly1316=) c.*4092G= (n.*4092G=) c.*4015G= (n.*4015G=) c.*4320G= (n.*4320G=) c.*4051G= (n.*4051G=) c.3652G= (p.Gly1218=) c.2722+552G= c.4003G= (p.Gly1335=) c.2982G= n.3287G= n.4110G= c.4120G= (p.Gly1374=) c.4099G= (p.Gly1367=) c.4081G= (p.Gly1361=) c.4063G= (p.Gly1355=) c.4024G= (p.Gly1342=) c.3985G= (p.Gly1329=) c.3709G= (p.Gly1237=) c.3670G= (p.Gly1224=) c.4060G= (p.Gly1354=) c.3967G= (p.Gly1323=) c.3442G= (p.Gly1148=) c.3757G= (p.Gly1253=) n.8329G= | |
3 | g.9475708G>T | CA351692934 | SETD5 | n.2901G>T c.4042G>T (p.Gly1348Trp) n.4935G>T n.2326G>T n.6188G>T c.3946G>T (p.Gly1316Trp) c.*4092G>T (n.*4092G>T) c.*4015G>T (n.*4015G>T) c.*4320G>T (n.*4320G>T) c.*4051G>T (n.*4051G>T) c.3652G>T (p.Gly1218Trp) c.2722+552G>T c.4003G>T (p.Gly1335Trp) c.2982G>T n.3287G>T n.4110G>T c.4120G>T (p.Gly1374Trp) c.4099G>T (p.Gly1367Trp) c.4081G>T (p.Gly1361Trp) c.4063G>T (p.Gly1355Trp) c.4024G>T (p.Gly1342Trp) c.3985G>T (p.Gly1329Trp) c.3709G>T (p.Gly1237Trp) c.3670G>T (p.Gly1224Trp) c.4060G>T (p.Gly1354Trp) c.3967G>T (p.Gly1323Trp) c.3442G>T (p.Gly1148Trp) c.3757G>T (p.Gly1253Trp) n.8329G>T | |
3 | g.9475709G>A | CA351692945 | SETD5 | n.2902G>A c.4043G>A (p.Gly1348Glu) n.4936G>A n.2327G>A n.6189G>A c.3947G>A (p.Gly1316Glu) c.*4093G>A (n.*4093G>A) c.*4016G>A (n.*4016G>A) c.*4321G>A (n.*4321G>A) c.*4052G>A (n.*4052G>A) c.3653G>A (p.Gly1218Glu) c.2722+553G>A c.4004G>A (p.Gly1335Glu) c.2983G>A n.3288G>A n.4111G>A c.4121G>A (p.Gly1374Glu) c.4100G>A (p.Gly1367Glu) c.4082G>A (p.Gly1361Glu) c.4064G>A (p.Gly1355Glu) c.4025G>A (p.Gly1342Glu) c.3986G>A (p.Gly1329Glu) c.3710G>A (p.Gly1237Glu) c.3671G>A (p.Gly1224Glu) c.4061G>A (p.Gly1354Glu) c.3968G>A (p.Gly1323Glu) c.3443G>A (p.Gly1148Glu) c.3758G>A (p.Gly1253Glu) n.8330G>A | |
3 | g.9475709G>C | CA351692939 | SETD5 | n.2902G>C c.4043G>C (p.Gly1348Ala) n.4936G>C n.2327G>C n.6189G>C c.3947G>C (p.Gly1316Ala) c.*4093G>C (n.*4093G>C) c.*4016G>C (n.*4016G>C) c.*4321G>C (n.*4321G>C) c.*4052G>C (n.*4052G>C) c.3653G>C (p.Gly1218Ala) c.2722+553G>C c.4004G>C (p.Gly1335Ala) c.2983G>C n.3288G>C n.4111G>C c.4121G>C (p.Gly1374Ala) c.4100G>C (p.Gly1367Ala) c.4082G>C (p.Gly1361Ala) c.4064G>C (p.Gly1355Ala) c.4025G>C (p.Gly1342Ala) c.3986G>C (p.Gly1329Ala) c.3710G>C (p.Gly1237Ala) c.3671G>C (p.Gly1224Ala) c.4061G>C (p.Gly1354Ala) c.3968G>C (p.Gly1323Ala) c.3443G>C (p.Gly1148Ala) c.3758G>C (p.Gly1253Ala) n.8330G>C | |
3 | g.9475709G>T | CA351692936 | SETD5 | n.2902G>T c.4043G>T (p.Gly1348Val) n.4936G>T n.2327G>T n.6189G>T c.3947G>T (p.Gly1316Val) c.*4093G>T (n.*4093G>T) c.*4016G>T (n.*4016G>T) c.*4321G>T (n.*4321G>T) c.*4052G>T (n.*4052G>T) c.3653G>T (p.Gly1218Val) c.2722+553G>T c.4004G>T (p.Gly1335Val) c.2983G>T n.3288G>T n.4111G>T c.4121G>T (p.Gly1374Val) c.4100G>T (p.Gly1367Val) c.4082G>T (p.Gly1361Val) c.4064G>T (p.Gly1355Val) c.4025G>T (p.Gly1342Val) c.3986G>T (p.Gly1329Val) c.3710G>T (p.Gly1237Val) c.3671G>T (p.Gly1224Val) c.4061G>T (p.Gly1354Val) c.3968G>T (p.Gly1323Val) c.3443G>T (p.Gly1148Val) c.3758G>T (p.Gly1253Val) n.8330G>T | |
3 | g.9475710G>A | CA432528957 | SETD5 | n.2903G>A c.4044G>A (p.Gly1348=) n.4937G>A n.2328G>A n.6190G>A c.3948G>A (p.Gly1316=) c.*4094G>A (n.*4094G>A) c.*4017G>A (n.*4017G>A) c.*4322G>A (n.*4322G>A) c.*4053G>A (n.*4053G>A) c.3654G>A (p.Gly1218=) c.2722+554G>A c.4005G>A (p.Gly1335=) c.2984G>A n.3289G>A n.4112G>A c.4122G>A (p.Gly1374=) c.4101G>A (p.Gly1367=) c.4083G>A (p.Gly1361=) c.4065G>A (p.Gly1355=) c.4026G>A (p.Gly1342=) c.3987G>A (p.Gly1329=) c.3711G>A (p.Gly1237=) c.3672G>A (p.Gly1224=) c.4062G>A (p.Gly1354=) c.3969G>A (p.Gly1323=) c.3444G>A (p.Gly1148=) c.3759G>A (p.Gly1253=) n.8331G>A | gnomAD v4 |
3 | g.9475710G>C | CA432528958 | SETD5 | n.2903G>C c.4044G>C (p.Gly1348=) n.4937G>C n.2328G>C n.6190G>C c.3948G>C (p.Gly1316=) c.*4094G>C (n.*4094G>C) c.*4017G>C (n.*4017G>C) c.*4322G>C (n.*4322G>C) c.*4053G>C (n.*4053G>C) c.3654G>C (p.Gly1218=) c.2722+554G>C c.4005G>C (p.Gly1335=) c.2984G>C n.3289G>C n.4112G>C c.4122G>C (p.Gly1374=) c.4101G>C (p.Gly1367=) c.4083G>C (p.Gly1361=) c.4065G>C (p.Gly1355=) c.4026G>C (p.Gly1342=) c.3987G>C (p.Gly1329=) c.3711G>C (p.Gly1237=) c.3672G>C (p.Gly1224=) c.4062G>C (p.Gly1354=) c.3969G>C (p.Gly1323=) c.3444G>C (p.Gly1148=) c.3759G>C (p.Gly1253=) n.8331G>C | |
3 | g.9475710G>T | CA432528959 | SETD5 | n.2903G>T c.4044G>T (p.Gly1348=) n.4937G>T n.2328G>T n.6190G>T c.3948G>T (p.Gly1316=) c.*4094G>T (n.*4094G>T) c.*4017G>T (n.*4017G>T) c.*4322G>T (n.*4322G>T) c.*4053G>T (n.*4053G>T) c.3654G>T (p.Gly1218=) c.2722+554G>T c.4005G>T (p.Gly1335=) c.2984G>T n.3289G>T n.4112G>T c.4122G>T (p.Gly1374=) c.4101G>T (p.Gly1367=) c.4083G>T (p.Gly1361=) c.4065G>T (p.Gly1355=) c.4026G>T (p.Gly1342=) c.3987G>T (p.Gly1329=) c.3711G>T (p.Gly1237=) c.3672G>T (p.Gly1224=) c.4062G>T (p.Gly1354=) c.3969G>T (p.Gly1323=) c.3444G>T (p.Gly1148=) c.3759G>T (p.Gly1253=) n.8331G>T | |
3 | g.9475710_9475711delinsGA | CA1344742711 | SETD5 | n.2903_2904delinsGA c.4044_4045delinsGA (p.Gly1348=) n.4937_4938delinsGA n.2328_2329delinsGA n.6190_6191delinsGA c.3948_3949delinsGA (p.Gly1316=) c.*4094_*4095delinsGA (n.*4094_*4095delinsGA) c.*4017_*4018delinsGA (n.*4017_*4018delinsGA) c.*4322_*4323delinsGA (n.*4322_*4323delinsGA) c.*4053_*4054delinsGA (n.*4053_*4054delinsGA) c.3654_3655delinsGA (p.Gly1218=) c.2722+554_2722+555delinsGA c.4005_4006delinsGA (p.Gly1335=) c.2984_2985delinsGA n.3289_3290delinsGA n.4112_4113delinsGA c.4122_4123delinsGA (p.Gly1374=) c.4101_4102delinsGA (p.Gly1367=) c.4083_4084delinsGA (p.Gly1361=) c.4065_4066delinsGA (p.Gly1355=) c.4026_4027delinsGA (p.Gly1342=) c.3987_3988delinsGA (p.Gly1329=) c.3711_3712delinsGA (p.Gly1237=) c.3672_3673delinsGA (p.Gly1224=) c.4062_4063delinsGA (p.Gly1354=) c.3969_3970delinsGA (p.Gly1323=) c.3444_3445delinsGA (p.Gly1148=) c.3759_3760delinsGA (p.Gly1253=) n.8331_8332delinsGA | |
3 | g.9475711del | CA16618017 | SETD5 | n.2904del c.4045del (p.Thr1349HisfsTer?) n.4938del n.2329del n.6191del c.3949del (p.Thr1317HisfsTer?) c.*4095del (n.*4095del) c.*4018del (n.*4018del) c.*4323del (n.*4323del) c.*4054del (n.*4054del) c.3655del (p.Thr1219HisfsTer?) c.2722+555del c.4006del (p.Thr1336HisfsTer?) c.2985del n.3290del n.4113del c.4123del (p.Thr1375HisfsTer?) c.4102del (p.Thr1368HisfsTer?) c.4084del (p.Thr1362HisfsTer?) c.4066del (p.Thr1356HisfsTer?) c.4027del (p.Thr1343HisfsTer?) c.3988del (p.Thr1330HisfsTer?) c.3712del (p.Thr1238HisfsTer?) c.3673del (p.Thr1225HisfsTer?) c.4063del (p.Thr1355HisfsTer?) c.3970del (p.Thr1324HisfsTer?) c.3445del (p.Thr1149HisfsTer?) c.3760del (p.Thr1254HisfsTer?) n.8332del | ClinVar dbSNP |
3 | g.9475711A= | CA1344742715 | SETD5 | n.2904A= c.4045A= (p.Thr1349=) n.4938A= n.2329A= n.6191A= c.3949A= (p.Thr1317=) c.*4095A= (n.*4095A=) c.*4018A= (n.*4018A=) c.*4323A= (n.*4323A=) c.*4054A= (n.*4054A=) c.3655A= (p.Thr1219=) c.2722+555A= c.4006A= (p.Thr1336=) c.2985A= n.3290A= n.4113A= c.4123A= (p.Thr1375=) c.4102A= (p.Thr1368=) c.4084A= (p.Thr1362=) c.4066A= (p.Thr1356=) c.4027A= (p.Thr1343=) c.3988A= (p.Thr1330=) c.3712A= (p.Thr1238=) c.3673A= (p.Thr1225=) c.4063A= (p.Thr1355=) c.3970A= (p.Thr1324=) c.3445A= (p.Thr1149=) c.3760A= (p.Thr1254=) n.8332A= | |
3 | g.9475711A>C | CA351692953 | SETD5 | n.2904A>C c.4045A>C (p.Thr1349Pro) n.4938A>C n.2329A>C n.6191A>C c.3949A>C (p.Thr1317Pro) c.*4095A>C (n.*4095A>C) c.*4018A>C (n.*4018A>C) c.*4323A>C (n.*4323A>C) c.*4054A>C (n.*4054A>C) c.3655A>C (p.Thr1219Pro) c.2722+555A>C c.4006A>C (p.Thr1336Pro) c.2985A>C n.3290A>C n.4113A>C c.4123A>C (p.Thr1375Pro) c.4102A>C (p.Thr1368Pro) c.4084A>C (p.Thr1362Pro) c.4066A>C (p.Thr1356Pro) c.4027A>C (p.Thr1343Pro) c.3988A>C (p.Thr1330Pro) c.3712A>C (p.Thr1238Pro) c.3673A>C (p.Thr1225Pro) c.4063A>C (p.Thr1355Pro) c.3970A>C (p.Thr1324Pro) c.3445A>C (p.Thr1149Pro) c.3760A>C (p.Thr1254Pro) n.8332A>C | |
3 | g.9475711A>G | CA2239840 | SETD5 | n.2904A>G c.4045A>G (p.Thr1349Ala) n.4938A>G n.2329A>G n.6191A>G c.3949A>G (p.Thr1317Ala) c.*4095A>G (n.*4095A>G) c.*4018A>G (n.*4018A>G) c.*4323A>G (n.*4323A>G) c.*4054A>G (n.*4054A>G) c.3655A>G (p.Thr1219Ala) c.2722+555A>G c.4006A>G (p.Thr1336Ala) c.2985A>G n.3290A>G n.4113A>G c.4123A>G (p.Thr1375Ala) c.4102A>G (p.Thr1368Ala) c.4084A>G (p.Thr1362Ala) c.4066A>G (p.Thr1356Ala) c.4027A>G (p.Thr1343Ala) c.3988A>G (p.Thr1330Ala) c.3712A>G (p.Thr1238Ala) c.3673A>G (p.Thr1225Ala) c.4063A>G (p.Thr1355Ala) c.3970A>G (p.Thr1324Ala) c.3445A>G (p.Thr1149Ala) c.3760A>G (p.Thr1254Ala) n.8332A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.9475711A>T | CA351692965 | SETD5 | n.2904A>T c.4045A>T (p.Thr1349Ser) n.4938A>T n.2329A>T n.6191A>T c.3949A>T (p.Thr1317Ser) c.*4095A>T (n.*4095A>T) c.*4018A>T (n.*4018A>T) c.*4323A>T (n.*4323A>T) c.*4054A>T (n.*4054A>T) c.3655A>T (p.Thr1219Ser) c.2722+555A>T c.4006A>T (p.Thr1336Ser) c.2985A>T n.3290A>T n.4113A>T c.4123A>T (p.Thr1375Ser) c.4102A>T (p.Thr1368Ser) c.4084A>T (p.Thr1362Ser) c.4066A>T (p.Thr1356Ser) c.4027A>T (p.Thr1343Ser) c.3988A>T (p.Thr1330Ser) c.3712A>T (p.Thr1238Ser) c.3673A>T (p.Thr1225Ser) c.4063A>T (p.Thr1355Ser) c.3970A>T (p.Thr1324Ser) c.3445A>T (p.Thr1149Ser) c.3760A>T (p.Thr1254Ser) n.8332A>T | |
3 | g.9475712C>A | CA351692980 | SETD5 | n.2905C>A c.4046C>A (p.Thr1349Lys) n.4939C>A n.2330C>A n.6192C>A c.3950C>A (p.Thr1317Lys) c.*4096C>A (n.*4096C>A) c.*4019C>A (n.*4019C>A) c.*4324C>A (n.*4324C>A) c.*4055C>A (n.*4055C>A) c.3656C>A (p.Thr1219Lys) c.2722+556C>A c.4007C>A (p.Thr1336Lys) c.2986C>A n.3291C>A n.4114C>A c.4124C>A (p.Thr1375Lys) c.4103C>A (p.Thr1368Lys) c.4085C>A (p.Thr1362Lys) c.4067C>A (p.Thr1356Lys) c.4028C>A (p.Thr1343Lys) c.3989C>A (p.Thr1330Lys) c.3713C>A (p.Thr1238Lys) c.3674C>A (p.Thr1225Lys) c.4064C>A (p.Thr1355Lys) c.3971C>A (p.Thr1324Lys) c.3446C>A (p.Thr1149Lys) c.3761C>A (p.Thr1254Lys) n.8333C>A | |
3 | g.9475712C= | CA1344742722 | SETD5 | n.2905C= c.4046C= (p.Thr1349=) n.4939C= n.2330C= n.6192C= c.3950C= (p.Thr1317=) c.*4096C= (n.*4096C=) c.*4019C= (n.*4019C=) c.*4324C= (n.*4324C=) c.*4055C= (n.*4055C=) c.3656C= (p.Thr1219=) c.2722+556C= c.4007C= (p.Thr1336=) c.2986C= n.3291C= n.4114C= c.4124C= (p.Thr1375=) c.4103C= (p.Thr1368=) c.4085C= (p.Thr1362=) c.4067C= (p.Thr1356=) c.4028C= (p.Thr1343=) c.3989C= (p.Thr1330=) c.3713C= (p.Thr1238=) c.3674C= (p.Thr1225=) c.4064C= (p.Thr1355=) c.3971C= (p.Thr1324=) c.3446C= (p.Thr1149=) c.3761C= (p.Thr1254=) n.8333C= | |
3 | g.9475712C>G | CA351692988 | SETD5 | n.2905C>G c.4046C>G (p.Thr1349Arg) n.4939C>G n.2330C>G n.6192C>G c.3950C>G (p.Thr1317Arg) c.*4096C>G (n.*4096C>G) c.*4019C>G (n.*4019C>G) c.*4324C>G (n.*4324C>G) c.*4055C>G (n.*4055C>G) c.3656C>G (p.Thr1219Arg) c.2722+556C>G c.4007C>G (p.Thr1336Arg) c.2986C>G n.3291C>G n.4114C>G c.4124C>G (p.Thr1375Arg) c.4103C>G (p.Thr1368Arg) c.4085C>G (p.Thr1362Arg) c.4067C>G (p.Thr1356Arg) c.4028C>G (p.Thr1343Arg) c.3989C>G (p.Thr1330Arg) c.3713C>G (p.Thr1238Arg) c.3674C>G (p.Thr1225Arg) c.4064C>G (p.Thr1355Arg) c.3971C>G (p.Thr1324Arg) c.3446C>G (p.Thr1149Arg) c.3761C>G (p.Thr1254Arg) n.8333C>G | |
3 | g.9475712C>T | CA351692983 | SETD5 | n.2905C>T c.4046C>T (p.Thr1349Ile) n.4939C>T n.2330C>T n.6192C>T c.3950C>T (p.Thr1317Ile) c.*4096C>T (n.*4096C>T) c.*4019C>T (n.*4019C>T) c.*4324C>T (n.*4324C>T) c.*4055C>T (n.*4055C>T) c.3656C>T (p.Thr1219Ile) c.2722+556C>T c.4007C>T (p.Thr1336Ile) c.2986C>T n.3291C>T n.4114C>T c.4124C>T (p.Thr1375Ile) c.4103C>T (p.Thr1368Ile) c.4085C>T (p.Thr1362Ile) c.4067C>T (p.Thr1356Ile) c.4028C>T (p.Thr1343Ile) c.3989C>T (p.Thr1330Ile) c.3713C>T (p.Thr1238Ile) c.3674C>T (p.Thr1225Ile) c.4064C>T (p.Thr1355Ile) c.3971C>T (p.Thr1324Ile) c.3446C>T (p.Thr1149Ile) c.3761C>T (p.Thr1254Ile) n.8333C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475713A= | CA1344742727 | SETD5 | n.2906A= c.4047A= (p.Thr1349=) n.4940A= n.2331A= n.6193A= c.3951A= (p.Thr1317=) c.*4097A= (n.*4097A=) c.*4020A= (n.*4020A=) c.*4325A= (n.*4325A=) c.*4056A= (n.*4056A=) c.3657A= (p.Thr1219=) c.2722+557A= c.4008A= (p.Thr1336=) c.2987A= n.3292A= n.4115A= c.4125A= (p.Thr1375=) c.4104A= (p.Thr1368=) c.4086A= (p.Thr1362=) c.4068A= (p.Thr1356=) c.4029A= (p.Thr1343=) c.3990A= (p.Thr1330=) c.3714A= (p.Thr1238=) c.3675A= (p.Thr1225=) c.4065A= (p.Thr1355=) c.3972A= (p.Thr1324=) c.3447A= (p.Thr1149=) c.3762A= (p.Thr1254=) n.8334A= | |
3 | g.9475713A>C | CA432528963 | SETD5 | n.2906A>C c.4047A>C (p.Thr1349=) n.4940A>C n.2331A>C n.6193A>C c.3951A>C (p.Thr1317=) c.*4097A>C (n.*4097A>C) c.*4020A>C (n.*4020A>C) c.*4325A>C (n.*4325A>C) c.*4056A>C (n.*4056A>C) c.3657A>C (p.Thr1219=) c.2722+557A>C c.4008A>C (p.Thr1336=) c.2987A>C n.3292A>C n.4115A>C c.4125A>C (p.Thr1375=) c.4104A>C (p.Thr1368=) c.4086A>C (p.Thr1362=) c.4068A>C (p.Thr1356=) c.4029A>C (p.Thr1343=) c.3990A>C (p.Thr1330=) c.3714A>C (p.Thr1238=) c.3675A>C (p.Thr1225=) c.4065A>C (p.Thr1355=) c.3972A>C (p.Thr1324=) c.3447A>C (p.Thr1149=) c.3762A>C (p.Thr1254=) n.8334A>C | dbSNP |
3 | g.9475713A>G | CA432528968 | SETD5 | n.2906A>G c.4047A>G (p.Thr1349=) n.4940A>G n.2331A>G n.6193A>G c.3951A>G (p.Thr1317=) c.*4097A>G (n.*4097A>G) c.*4020A>G (n.*4020A>G) c.*4325A>G (n.*4325A>G) c.*4056A>G (n.*4056A>G) c.3657A>G (p.Thr1219=) c.2722+557A>G c.4008A>G (p.Thr1336=) c.2987A>G n.3292A>G n.4115A>G c.4125A>G (p.Thr1375=) c.4104A>G (p.Thr1368=) c.4086A>G (p.Thr1362=) c.4068A>G (p.Thr1356=) c.4029A>G (p.Thr1343=) c.3990A>G (p.Thr1330=) c.3714A>G (p.Thr1238=) c.3675A>G (p.Thr1225=) c.4065A>G (p.Thr1355=) c.3972A>G (p.Thr1324=) c.3447A>G (p.Thr1149=) c.3762A>G (p.Thr1254=) n.8334A>G | |
3 | g.9475713A>T | CA432528966 | SETD5 | n.2906A>T c.4047A>T (p.Thr1349=) n.4940A>T n.2331A>T n.6193A>T c.3951A>T (p.Thr1317=) c.*4097A>T (n.*4097A>T) c.*4020A>T (n.*4020A>T) c.*4325A>T (n.*4325A>T) c.*4056A>T (n.*4056A>T) c.3657A>T (p.Thr1219=) c.2722+557A>T c.4008A>T (p.Thr1336=) c.2987A>T n.3292A>T n.4115A>T c.4125A>T (p.Thr1375=) c.4104A>T (p.Thr1368=) c.4086A>T (p.Thr1362=) c.4068A>T (p.Thr1356=) c.4029A>T (p.Thr1343=) c.3990A>T (p.Thr1330=) c.3714A>T (p.Thr1238=) c.3675A>T (p.Thr1225=) c.4065A>T (p.Thr1355=) c.3972A>T (p.Thr1324=) c.3447A>T (p.Thr1149=) c.3762A>T (p.Thr1254=) n.8334A>T | |
3 | g.9475714C>A | CA351692993 | SETD5 | n.2907C>A c.4048C>A (p.Pro1350Thr) n.4941C>A n.2332C>A n.6194C>A c.3952C>A (p.Pro1318Thr) c.*4098C>A (n.*4098C>A) c.*4021C>A (n.*4021C>A) c.*4326C>A (n.*4326C>A) c.*4057C>A (n.*4057C>A) c.3658C>A (p.Pro1220Thr) c.2722+558C>A c.4009C>A (p.Pro1337Thr) c.2988C>A n.3293C>A n.4116C>A c.4126C>A (p.Pro1376Thr) c.4105C>A (p.Pro1369Thr) c.4087C>A (p.Pro1363Thr) c.4069C>A (p.Pro1357Thr) c.4030C>A (p.Pro1344Thr) c.3991C>A (p.Pro1331Thr) c.3715C>A (p.Pro1239Thr) c.3676C>A (p.Pro1226Thr) c.4066C>A (p.Pro1356Thr) c.3973C>A (p.Pro1325Thr) c.3448C>A (p.Pro1150Thr) c.3763C>A (p.Pro1255Thr) n.8335C>A | |
3 | g.9475714C>G | CA351692995 | SETD5 | n.2907C>G c.4048C>G (p.Pro1350Ala) n.4941C>G n.2332C>G n.6194C>G c.3952C>G (p.Pro1318Ala) c.*4098C>G (n.*4098C>G) c.*4021C>G (n.*4021C>G) c.*4326C>G (n.*4326C>G) c.*4057C>G (n.*4057C>G) c.3658C>G (p.Pro1220Ala) c.2722+558C>G c.4009C>G (p.Pro1337Ala) c.2988C>G n.3293C>G n.4116C>G c.4126C>G (p.Pro1376Ala) c.4105C>G (p.Pro1369Ala) c.4087C>G (p.Pro1363Ala) c.4069C>G (p.Pro1357Ala) c.4030C>G (p.Pro1344Ala) c.3991C>G (p.Pro1331Ala) c.3715C>G (p.Pro1239Ala) c.3676C>G (p.Pro1226Ala) c.4066C>G (p.Pro1356Ala) c.3973C>G (p.Pro1325Ala) c.3448C>G (p.Pro1150Ala) c.3763C>G (p.Pro1255Ala) n.8335C>G | |
3 | g.9475714C>T | CA351692996 | SETD5 | n.2907C>T c.4048C>T (p.Pro1350Ser) n.4941C>T n.2332C>T n.6194C>T c.3952C>T (p.Pro1318Ser) c.*4098C>T (n.*4098C>T) c.*4021C>T (n.*4021C>T) c.*4326C>T (n.*4326C>T) c.*4057C>T (n.*4057C>T) c.3658C>T (p.Pro1220Ser) c.2722+558C>T c.4009C>T (p.Pro1337Ser) c.2988C>T n.3293C>T n.4116C>T c.4126C>T (p.Pro1376Ser) c.4105C>T (p.Pro1369Ser) c.4087C>T (p.Pro1363Ser) c.4069C>T (p.Pro1357Ser) c.4030C>T (p.Pro1344Ser) c.3991C>T (p.Pro1331Ser) c.3715C>T (p.Pro1239Ser) c.3676C>T (p.Pro1226Ser) c.4066C>T (p.Pro1356Ser) c.3973C>T (p.Pro1325Ser) c.3448C>T (p.Pro1150Ser) c.3763C>T (p.Pro1255Ser) n.8335C>T | gnomAD v4 |
3 | g.9475715C>A | CA351692998 | SETD5 | n.2908C>A c.4049C>A (p.Pro1350Gln) n.4942C>A n.2333C>A n.6195C>A c.3953C>A (p.Pro1318Gln) c.*4099C>A (n.*4099C>A) c.*4022C>A (n.*4022C>A) c.*4327C>A (n.*4327C>A) c.*4058C>A (n.*4058C>A) c.3659C>A (p.Pro1220Gln) c.2722+559C>A c.4010C>A (p.Pro1337Gln) c.2989C>A n.3294C>A n.4117C>A c.4127C>A (p.Pro1376Gln) c.4106C>A (p.Pro1369Gln) c.4088C>A (p.Pro1363Gln) c.4070C>A (p.Pro1357Gln) c.4031C>A (p.Pro1344Gln) c.3992C>A (p.Pro1331Gln) c.3716C>A (p.Pro1239Gln) c.3677C>A (p.Pro1226Gln) c.4067C>A (p.Pro1356Gln) c.3974C>A (p.Pro1325Gln) c.3449C>A (p.Pro1150Gln) c.3764C>A (p.Pro1255Gln) n.8336C>A | |
3 | g.9475715C= | CA1344742732 | SETD5 | n.2908C= c.4049C= (p.Pro1350=) n.4942C= n.2333C= n.6195C= c.3953C= (p.Pro1318=) c.*4099C= (n.*4099C=) c.*4022C= (n.*4022C=) c.*4327C= (n.*4327C=) c.*4058C= (n.*4058C=) c.3659C= (p.Pro1220=) c.2722+559C= c.4010C= (p.Pro1337=) c.2989C= n.3294C= n.4117C= c.4127C= (p.Pro1376=) c.4106C= (p.Pro1369=) c.4088C= (p.Pro1363=) c.4070C= (p.Pro1357=) c.4031C= (p.Pro1344=) c.3992C= (p.Pro1331=) c.3716C= (p.Pro1239=) c.3677C= (p.Pro1226=) c.4067C= (p.Pro1356=) c.3974C= (p.Pro1325=) c.3449C= (p.Pro1150=) c.3764C= (p.Pro1255=) n.8336C= | |
3 | g.9475715C>G | CA351693002 | SETD5 | n.2908C>G c.4049C>G (p.Pro1350Arg) n.4942C>G n.2333C>G n.6195C>G c.3953C>G (p.Pro1318Arg) c.*4099C>G (n.*4099C>G) c.*4022C>G (n.*4022C>G) c.*4327C>G (n.*4327C>G) c.*4058C>G (n.*4058C>G) c.3659C>G (p.Pro1220Arg) c.2722+559C>G c.4010C>G (p.Pro1337Arg) c.2989C>G n.3294C>G n.4117C>G c.4127C>G (p.Pro1376Arg) c.4106C>G (p.Pro1369Arg) c.4088C>G (p.Pro1363Arg) c.4070C>G (p.Pro1357Arg) c.4031C>G (p.Pro1344Arg) c.3992C>G (p.Pro1331Arg) c.3716C>G (p.Pro1239Arg) c.3677C>G (p.Pro1226Arg) c.4067C>G (p.Pro1356Arg) c.3974C>G (p.Pro1325Arg) c.3449C>G (p.Pro1150Arg) c.3764C>G (p.Pro1255Arg) n.8336C>G | ClinVar dbSNP gnomAD v4 |
3 | g.9475715C>T | CA351693005 | SETD5 | n.2908C>T c.4049C>T (p.Pro1350Leu) n.4942C>T n.2333C>T n.6195C>T c.3953C>T (p.Pro1318Leu) c.*4099C>T (n.*4099C>T) c.*4022C>T (n.*4022C>T) c.*4327C>T (n.*4327C>T) c.*4058C>T (n.*4058C>T) c.3659C>T (p.Pro1220Leu) c.2722+559C>T c.4010C>T (p.Pro1337Leu) c.2989C>T n.3294C>T n.4117C>T c.4127C>T (p.Pro1376Leu) c.4106C>T (p.Pro1369Leu) c.4088C>T (p.Pro1363Leu) c.4070C>T (p.Pro1357Leu) c.4031C>T (p.Pro1344Leu) c.3992C>T (p.Pro1331Leu) c.3716C>T (p.Pro1239Leu) c.3677C>T (p.Pro1226Leu) c.4067C>T (p.Pro1356Leu) c.3974C>T (p.Pro1325Leu) c.3449C>T (p.Pro1150Leu) c.3764C>T (p.Pro1255Leu) n.8336C>T | |
3 | g.9475716A>C | CA432528378 | SETD5 | n.2909A>C c.4050A>C (p.Pro1350=) n.4943A>C n.2334A>C n.6196A>C c.3954A>C (p.Pro1318=) c.*4100A>C (n.*4100A>C) c.*4023A>C (n.*4023A>C) c.*4328A>C (n.*4328A>C) c.*4059A>C (n.*4059A>C) c.3660A>C (p.Pro1220=) c.2722+560A>C c.4011A>C (p.Pro1337=) c.2990A>C n.3295A>C n.4118A>C c.4128A>C (p.Pro1376=) c.4107A>C (p.Pro1369=) c.4089A>C (p.Pro1363=) c.4071A>C (p.Pro1357=) c.4032A>C (p.Pro1344=) c.3993A>C (p.Pro1331=) c.3717A>C (p.Pro1239=) c.3678A>C (p.Pro1226=) c.4068A>C (p.Pro1356=) c.3975A>C (p.Pro1325=) c.3450A>C (p.Pro1150=) c.3765A>C (p.Pro1255=) n.8337A>C | |
3 | g.9475716A>G | CA432528379 | SETD5 | n.2909A>G c.4050A>G (p.Pro1350=) n.4943A>G n.2334A>G n.6196A>G c.3954A>G (p.Pro1318=) c.*4100A>G (n.*4100A>G) c.*4023A>G (n.*4023A>G) c.*4328A>G (n.*4328A>G) c.*4059A>G (n.*4059A>G) c.3660A>G (p.Pro1220=) c.2722+560A>G c.4011A>G (p.Pro1337=) c.2990A>G n.3295A>G n.4118A>G c.4128A>G (p.Pro1376=) c.4107A>G (p.Pro1369=) c.4089A>G (p.Pro1363=) c.4071A>G (p.Pro1357=) c.4032A>G (p.Pro1344=) c.3993A>G (p.Pro1331=) c.3717A>G (p.Pro1239=) c.3678A>G (p.Pro1226=) c.4068A>G (p.Pro1356=) c.3975A>G (p.Pro1325=) c.3450A>G (p.Pro1150=) c.3765A>G (p.Pro1255=) n.8337A>G | gnomAD v4 |
3 | g.9475716A>T | CA432528380 | SETD5 | n.2909A>T c.4050A>T (p.Pro1350=) n.4943A>T n.2334A>T n.6196A>T c.3954A>T (p.Pro1318=) c.*4100A>T (n.*4100A>T) c.*4023A>T (n.*4023A>T) c.*4328A>T (n.*4328A>T) c.*4059A>T (n.*4059A>T) c.3660A>T (p.Pro1220=) c.2722+560A>T c.4011A>T (p.Pro1337=) c.2990A>T n.3295A>T n.4118A>T c.4128A>T (p.Pro1376=) c.4107A>T (p.Pro1369=) c.4089A>T (p.Pro1363=) c.4071A>T (p.Pro1357=) c.4032A>T (p.Pro1344=) c.3993A>T (p.Pro1331=) c.3717A>T (p.Pro1239=) c.3678A>T (p.Pro1226=) c.4068A>T (p.Pro1356=) c.3975A>T (p.Pro1325=) c.3450A>T (p.Pro1150=) c.3765A>T (p.Pro1255=) n.8337A>T | |
3 | g.9475717G>A | CA351693030 | SETD5 | n.2910G>A c.4051G>A (p.Gly1351Arg) n.4944G>A n.2335G>A n.6197G>A c.3955G>A (p.Gly1319Arg) c.*4101G>A (n.*4101G>A) c.*4024G>A (n.*4024G>A) c.*4329G>A (n.*4329G>A) c.*4060G>A (n.*4060G>A) c.3661G>A (p.Gly1221Arg) c.2722+561G>A c.4012G>A (p.Gly1338Arg) c.2991G>A n.3296G>A n.4119G>A c.4129G>A (p.Gly1377Arg) c.4108G>A (p.Gly1370Arg) c.4090G>A (p.Gly1364Arg) c.4072G>A (p.Gly1358Arg) c.4033G>A (p.Gly1345Arg) c.3994G>A (p.Gly1332Arg) c.3718G>A (p.Gly1240Arg) c.3679G>A (p.Gly1227Arg) c.4069G>A (p.Gly1357Arg) c.3976G>A (p.Gly1326Arg) c.3451G>A (p.Gly1151Arg) c.3766G>A (p.Gly1256Arg) n.8338G>A | gnomAD v4 |
3 | g.9475717G>C | CA351693050 | SETD5 | n.2910G>C c.4051G>C (p.Gly1351Arg) n.4944G>C n.2335G>C n.6197G>C c.3955G>C (p.Gly1319Arg) c.*4101G>C (n.*4101G>C) c.*4024G>C (n.*4024G>C) c.*4329G>C (n.*4329G>C) c.*4060G>C (n.*4060G>C) c.3661G>C (p.Gly1221Arg) c.2722+561G>C c.4012G>C (p.Gly1338Arg) c.2991G>C n.3296G>C n.4119G>C c.4129G>C (p.Gly1377Arg) c.4108G>C (p.Gly1370Arg) c.4090G>C (p.Gly1364Arg) c.4072G>C (p.Gly1358Arg) c.4033G>C (p.Gly1345Arg) c.3994G>C (p.Gly1332Arg) c.3718G>C (p.Gly1240Arg) c.3679G>C (p.Gly1227Arg) c.4069G>C (p.Gly1357Arg) c.3976G>C (p.Gly1326Arg) c.3451G>C (p.Gly1151Arg) c.3766G>C (p.Gly1256Arg) n.8338G>C | gnomAD v4 |
3 | g.9475717G>T | CA351693054 | SETD5 | n.2910G>T c.4051G>T (p.Gly1351Trp) n.4944G>T n.2335G>T n.6197G>T c.3955G>T (p.Gly1319Trp) c.*4101G>T (n.*4101G>T) c.*4024G>T (n.*4024G>T) c.*4329G>T (n.*4329G>T) c.*4060G>T (n.*4060G>T) c.3661G>T (p.Gly1221Trp) c.2722+561G>T c.4012G>T (p.Gly1338Trp) c.2991G>T n.3296G>T n.4119G>T c.4129G>T (p.Gly1377Trp) c.4108G>T (p.Gly1370Trp) c.4090G>T (p.Gly1364Trp) c.4072G>T (p.Gly1358Trp) c.4033G>T (p.Gly1345Trp) c.3994G>T (p.Gly1332Trp) c.3718G>T (p.Gly1240Trp) c.3679G>T (p.Gly1227Trp) c.4069G>T (p.Gly1357Trp) c.3976G>T (p.Gly1326Trp) c.3451G>T (p.Gly1151Trp) c.3766G>T (p.Gly1256Trp) n.8338G>T | |
3 | g.9475718G>A | CA351693060 | SETD5 | n.2911G>A c.4052G>A (p.Gly1351Glu) n.4945G>A n.2336G>A n.6198G>A c.3956G>A (p.Gly1319Glu) c.*4102G>A (n.*4102G>A) c.*4025G>A (n.*4025G>A) c.*4330G>A (n.*4330G>A) c.*4061G>A (n.*4061G>A) c.3662G>A (p.Gly1221Glu) c.2722+562G>A c.4013G>A (p.Gly1338Glu) c.2992G>A n.3297G>A n.4120G>A c.4130G>A (p.Gly1377Glu) c.4109G>A (p.Gly1370Glu) c.4091G>A (p.Gly1364Glu) c.4073G>A (p.Gly1358Glu) c.4034G>A (p.Gly1345Glu) c.3995G>A (p.Gly1332Glu) c.3719G>A (p.Gly1240Glu) c.3680G>A (p.Gly1227Glu) c.4070G>A (p.Gly1357Glu) c.3977G>A (p.Gly1326Glu) c.3452G>A (p.Gly1151Glu) c.3767G>A (p.Gly1256Glu) n.8339G>A | ClinVar dbSNP |
3 | g.9475718G>C | CA351693063 | SETD5 | n.2911G>C c.4052G>C (p.Gly1351Ala) n.4945G>C n.2336G>C n.6198G>C c.3956G>C (p.Gly1319Ala) c.*4102G>C (n.*4102G>C) c.*4025G>C (n.*4025G>C) c.*4330G>C (n.*4330G>C) c.*4061G>C (n.*4061G>C) c.3662G>C (p.Gly1221Ala) c.2722+562G>C c.4013G>C (p.Gly1338Ala) c.2992G>C n.3297G>C n.4120G>C c.4130G>C (p.Gly1377Ala) c.4109G>C (p.Gly1370Ala) c.4091G>C (p.Gly1364Ala) c.4073G>C (p.Gly1358Ala) c.4034G>C (p.Gly1345Ala) c.3995G>C (p.Gly1332Ala) c.3719G>C (p.Gly1240Ala) c.3680G>C (p.Gly1227Ala) c.4070G>C (p.Gly1357Ala) c.3977G>C (p.Gly1326Ala) c.3452G>C (p.Gly1151Ala) c.3767G>C (p.Gly1256Ala) n.8339G>C | |
3 | g.9475718G= | CA1344742735 | SETD5 | n.2911G= c.4052G= (p.Gly1351=) n.4945G= n.2336G= n.6198G= c.3956G= (p.Gly1319=) c.*4102G= (n.*4102G=) c.*4025G= (n.*4025G=) c.*4330G= (n.*4330G=) c.*4061G= (n.*4061G=) c.3662G= (p.Gly1221=) c.2722+562G= c.4013G= (p.Gly1338=) c.2992G= n.3297G= n.4120G= c.4130G= (p.Gly1377=) c.4109G= (p.Gly1370=) c.4091G= (p.Gly1364=) c.4073G= (p.Gly1358=) c.4034G= (p.Gly1345=) c.3995G= (p.Gly1332=) c.3719G= (p.Gly1240=) c.3680G= (p.Gly1227=) c.4070G= (p.Gly1357=) c.3977G= (p.Gly1326=) c.3452G= (p.Gly1151=) c.3767G= (p.Gly1256=) n.8339G= | |
3 | g.9475718G>T | CA351693064 | SETD5 | n.2911G>T c.4052G>T (p.Gly1351Val) n.4945G>T n.2336G>T n.6198G>T c.3956G>T (p.Gly1319Val) c.*4102G>T (n.*4102G>T) c.*4025G>T (n.*4025G>T) c.*4330G>T (n.*4330G>T) c.*4061G>T (n.*4061G>T) c.3662G>T (p.Gly1221Val) c.2722+562G>T c.4013G>T (p.Gly1338Val) c.2992G>T n.3297G>T n.4120G>T c.4130G>T (p.Gly1377Val) c.4109G>T (p.Gly1370Val) c.4091G>T (p.Gly1364Val) c.4073G>T (p.Gly1358Val) c.4034G>T (p.Gly1345Val) c.3995G>T (p.Gly1332Val) c.3719G>T (p.Gly1240Val) c.3680G>T (p.Gly1227Val) c.4070G>T (p.Gly1357Val) c.3977G>T (p.Gly1326Val) c.3452G>T (p.Gly1151Val) c.3767G>T (p.Gly1256Val) n.8339G>T | |
3 | g.9475719G>A | CA432528384 | SETD5 | n.2912G>A c.4053G>A (p.Gly1351=) n.4946G>A n.2337G>A n.6199G>A c.3957G>A (p.Gly1319=) c.*4103G>A (n.*4103G>A) c.*4026G>A (n.*4026G>A) c.*4331G>A (n.*4331G>A) c.*4062G>A (n.*4062G>A) c.3663G>A (p.Gly1221=) c.2722+563G>A c.4014G>A (p.Gly1338=) c.2993G>A n.3298G>A n.4121G>A c.4131G>A (p.Gly1377=) c.4110G>A (p.Gly1370=) c.4092G>A (p.Gly1364=) c.4074G>A (p.Gly1358=) c.4035G>A (p.Gly1345=) c.3996G>A (p.Gly1332=) c.3720G>A (p.Gly1240=) c.3681G>A (p.Gly1227=) c.4071G>A (p.Gly1357=) c.3978G>A (p.Gly1326=) c.3453G>A (p.Gly1151=) c.3768G>A (p.Gly1256=) n.8340G>A | gnomAD v4 |
3 | g.9475719G>C | CA432528385 | SETD5 | n.2912G>C c.4053G>C (p.Gly1351=) n.4946G>C n.2337G>C n.6199G>C c.3957G>C (p.Gly1319=) c.*4103G>C (n.*4103G>C) c.*4026G>C (n.*4026G>C) c.*4331G>C (n.*4331G>C) c.*4062G>C (n.*4062G>C) c.3663G>C (p.Gly1221=) c.2722+563G>C c.4014G>C (p.Gly1338=) c.2993G>C n.3298G>C n.4121G>C c.4131G>C (p.Gly1377=) c.4110G>C (p.Gly1370=) c.4092G>C (p.Gly1364=) c.4074G>C (p.Gly1358=) c.4035G>C (p.Gly1345=) c.3996G>C (p.Gly1332=) c.3720G>C (p.Gly1240=) c.3681G>C (p.Gly1227=) c.4071G>C (p.Gly1357=) c.3978G>C (p.Gly1326=) c.3453G>C (p.Gly1151=) c.3768G>C (p.Gly1256=) n.8340G>C | |
3 | g.9475719G>T | CA432528386 | SETD5 | n.2912G>T c.4053G>T (p.Gly1351=) n.4946G>T n.2337G>T n.6199G>T c.3957G>T (p.Gly1319=) c.*4103G>T (n.*4103G>T) c.*4026G>T (n.*4026G>T) c.*4331G>T (n.*4331G>T) c.*4062G>T (n.*4062G>T) c.3663G>T (p.Gly1221=) c.2722+563G>T c.4014G>T (p.Gly1338=) c.2993G>T n.3298G>T n.4121G>T c.4131G>T (p.Gly1377=) c.4110G>T (p.Gly1370=) c.4092G>T (p.Gly1364=) c.4074G>T (p.Gly1358=) c.4035G>T (p.Gly1345=) c.3996G>T (p.Gly1332=) c.3720G>T (p.Gly1240=) c.3681G>T (p.Gly1227=) c.4071G>T (p.Gly1357=) c.3978G>T (p.Gly1326=) c.3453G>T (p.Gly1151=) c.3768G>T (p.Gly1256=) n.8340G>T | |
3 | g.9475720T>A | CA351693091 | SETD5 | n.2913T>A c.4054T>A (p.Tyr1352Asn) n.4947T>A n.2338T>A n.6200T>A c.3958T>A (p.Tyr1320Asn) c.*4104T>A (n.*4104T>A) c.*4027T>A (n.*4027T>A) c.*4332T>A (n.*4332T>A) c.*4063T>A (n.*4063T>A) c.3664T>A (p.Tyr1222Asn) c.2722+564T>A c.4015T>A (p.Tyr1339Asn) c.2994T>A n.3299T>A n.4122T>A c.4132T>A (p.Tyr1378Asn) c.4111T>A (p.Tyr1371Asn) c.4093T>A (p.Tyr1365Asn) c.4075T>A (p.Tyr1359Asn) c.4036T>A (p.Tyr1346Asn) c.3997T>A (p.Tyr1333Asn) c.3721T>A (p.Tyr1241Asn) c.3682T>A (p.Tyr1228Asn) c.4072T>A (p.Tyr1358Asn) c.3979T>A (p.Tyr1327Asn) c.3454T>A (p.Tyr1152Asn) c.3769T>A (p.Tyr1257Asn) n.8341T>A | |
3 | g.9475720T>C | CA2239841 | SETD5 | n.2913T>C c.4054T>C (p.Tyr1352His) n.4947T>C n.2338T>C n.6200T>C c.3958T>C (p.Tyr1320His) c.*4104T>C (n.*4104T>C) c.*4027T>C (n.*4027T>C) c.*4332T>C (n.*4332T>C) c.*4063T>C (n.*4063T>C) c.3664T>C (p.Tyr1222His) c.2722+564T>C c.4015T>C (p.Tyr1339His) c.2994T>C n.3299T>C n.4122T>C c.4132T>C (p.Tyr1378His) c.4111T>C (p.Tyr1371His) c.4093T>C (p.Tyr1365His) c.4075T>C (p.Tyr1359His) c.4036T>C (p.Tyr1346His) c.3997T>C (p.Tyr1333His) c.3721T>C (p.Tyr1241His) c.3682T>C (p.Tyr1228His) c.4072T>C (p.Tyr1358His) c.3979T>C (p.Tyr1327His) c.3454T>C (p.Tyr1152His) c.3769T>C (p.Tyr1257His) n.8341T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475720T>G | CA351693074 | SETD5 | n.2913T>G c.4054T>G (p.Tyr1352Asp) n.4947T>G n.2338T>G n.6200T>G c.3958T>G (p.Tyr1320Asp) c.*4104T>G (n.*4104T>G) c.*4027T>G (n.*4027T>G) c.*4332T>G (n.*4332T>G) c.*4063T>G (n.*4063T>G) c.3664T>G (p.Tyr1222Asp) c.2722+564T>G c.4015T>G (p.Tyr1339Asp) c.2994T>G n.3299T>G n.4122T>G c.4132T>G (p.Tyr1378Asp) c.4111T>G (p.Tyr1371Asp) c.4093T>G (p.Tyr1365Asp) c.4075T>G (p.Tyr1359Asp) c.4036T>G (p.Tyr1346Asp) c.3997T>G (p.Tyr1333Asp) c.3721T>G (p.Tyr1241Asp) c.3682T>G (p.Tyr1228Asp) c.4072T>G (p.Tyr1358Asp) c.3979T>G (p.Tyr1327Asp) c.3454T>G (p.Tyr1152Asp) c.3769T>G (p.Tyr1257Asp) n.8341T>G | dbSNP |
3 | g.9475720T= | CA1344742738 | SETD5 | n.2913T= c.4054T= (p.Tyr1352=) n.4947T= n.2338T= n.6200T= c.3958T= (p.Tyr1320=) c.*4104T= (n.*4104T=) c.*4027T= (n.*4027T=) c.*4332T= (n.*4332T=) c.*4063T= (n.*4063T=) c.3664T= (p.Tyr1222=) c.2722+564T= c.4015T= (p.Tyr1339=) c.2994T= n.3299T= n.4122T= c.4132T= (p.Tyr1378=) c.4111T= (p.Tyr1371=) c.4093T= (p.Tyr1365=) c.4075T= (p.Tyr1359=) c.4036T= (p.Tyr1346=) c.3997T= (p.Tyr1333=) c.3721T= (p.Tyr1241=) c.3682T= (p.Tyr1228=) c.4072T= (p.Tyr1358=) c.3979T= (p.Tyr1327=) c.3454T= (p.Tyr1152=) c.3769T= (p.Tyr1257=) n.8341T= | |
3 | g.9475721A= | CA1344742744 | SETD5 | n.2914A= c.4055A= (p.Tyr1352=) n.4948A= n.2339A= n.6201A= c.3959A= (p.Tyr1320=) c.*4105A= (n.*4105A=) c.*4028A= (n.*4028A=) c.*4333A= (n.*4333A=) c.*4064A= (n.*4064A=) c.3665A= (p.Tyr1222=) c.2722+565A= c.4016A= (p.Tyr1339=) c.2995A= n.3300A= n.4123A= c.4133A= (p.Tyr1378=) c.4112A= (p.Tyr1371=) c.4094A= (p.Tyr1365=) c.4076A= (p.Tyr1359=) c.4037A= (p.Tyr1346=) c.3998A= (p.Tyr1333=) c.3722A= (p.Tyr1241=) c.3683A= (p.Tyr1228=) c.4073A= (p.Tyr1358=) c.3980A= (p.Tyr1327=) c.3455A= (p.Tyr1152=) c.3770A= (p.Tyr1257=) n.8342A= | |
3 | g.9475721A>C | CA351693102 | SETD5 | n.2914A>C c.4055A>C (p.Tyr1352Ser) n.4948A>C n.2339A>C n.6201A>C c.3959A>C (p.Tyr1320Ser) c.*4105A>C (n.*4105A>C) c.*4028A>C (n.*4028A>C) c.*4333A>C (n.*4333A>C) c.*4064A>C (n.*4064A>C) c.3665A>C (p.Tyr1222Ser) c.2722+565A>C c.4016A>C (p.Tyr1339Ser) c.2995A>C n.3300A>C n.4123A>C c.4133A>C (p.Tyr1378Ser) c.4112A>C (p.Tyr1371Ser) c.4094A>C (p.Tyr1365Ser) c.4076A>C (p.Tyr1359Ser) c.4037A>C (p.Tyr1346Ser) c.3998A>C (p.Tyr1333Ser) c.3722A>C (p.Tyr1241Ser) c.3683A>C (p.Tyr1228Ser) c.4073A>C (p.Tyr1358Ser) c.3980A>C (p.Tyr1327Ser) c.3455A>C (p.Tyr1152Ser) c.3770A>C (p.Tyr1257Ser) n.8342A>C | |
3 | g.9475721A>G | CA2239842 | SETD5 | n.2914A>G c.4055A>G (p.Tyr1352Cys) n.4948A>G n.2339A>G n.6201A>G c.3959A>G (p.Tyr1320Cys) c.*4105A>G (n.*4105A>G) c.*4028A>G (n.*4028A>G) c.*4333A>G (n.*4333A>G) c.*4064A>G (n.*4064A>G) c.3665A>G (p.Tyr1222Cys) c.2722+565A>G c.4016A>G (p.Tyr1339Cys) c.2995A>G n.3300A>G n.4123A>G c.4133A>G (p.Tyr1378Cys) c.4112A>G (p.Tyr1371Cys) c.4094A>G (p.Tyr1365Cys) c.4076A>G (p.Tyr1359Cys) c.4037A>G (p.Tyr1346Cys) c.3998A>G (p.Tyr1333Cys) c.3722A>G (p.Tyr1241Cys) c.3683A>G (p.Tyr1228Cys) c.4073A>G (p.Tyr1358Cys) c.3980A>G (p.Tyr1327Cys) c.3455A>G (p.Tyr1152Cys) c.3770A>G (p.Tyr1257Cys) n.8342A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.9475721A>T | CA351693108 | SETD5 | n.2914A>T c.4055A>T (p.Tyr1352Phe) n.4948A>T n.2339A>T n.6201A>T c.3959A>T (p.Tyr1320Phe) c.*4105A>T (n.*4105A>T) c.*4028A>T (n.*4028A>T) c.*4333A>T (n.*4333A>T) c.*4064A>T (n.*4064A>T) c.3665A>T (p.Tyr1222Phe) c.2722+565A>T c.4016A>T (p.Tyr1339Phe) c.2995A>T n.3300A>T n.4123A>T c.4133A>T (p.Tyr1378Phe) c.4112A>T (p.Tyr1371Phe) c.4094A>T (p.Tyr1365Phe) c.4076A>T (p.Tyr1359Phe) c.4037A>T (p.Tyr1346Phe) c.3998A>T (p.Tyr1333Phe) c.3722A>T (p.Tyr1241Phe) c.3683A>T (p.Tyr1228Phe) c.4073A>T (p.Tyr1358Phe) c.3980A>T (p.Tyr1327Phe) c.3455A>T (p.Tyr1152Phe) c.3770A>T (p.Tyr1257Phe) n.8342A>T | |
3 | g.9475722T>A | CA351693109 | SETD5 | n.2915T>A c.4056T>A (p.Tyr1352Ter) n.4949T>A n.2340T>A n.6202T>A c.3960T>A (p.Tyr1320Ter) c.*4106T>A (n.*4106T>A) c.*4029T>A (n.*4029T>A) c.*4334T>A (n.*4334T>A) c.*4065T>A (n.*4065T>A) c.3666T>A (p.Tyr1222Ter) c.2722+566T>A c.4017T>A (p.Tyr1339Ter) c.2996T>A n.3301T>A n.4124T>A c.4134T>A (p.Tyr1378Ter) c.4113T>A (p.Tyr1371Ter) c.4095T>A (p.Tyr1365Ter) c.4077T>A (p.Tyr1359Ter) c.4038T>A (p.Tyr1346Ter) c.3999T>A (p.Tyr1333Ter) c.3723T>A (p.Tyr1241Ter) c.3684T>A (p.Tyr1228Ter) c.4074T>A (p.Tyr1358Ter) c.3981T>A (p.Tyr1327Ter) c.3456T>A (p.Tyr1152Ter) c.3771T>A (p.Tyr1257Ter) n.8343T>A | |
3 | g.9475722T>C | CA432528390 | SETD5 | n.2915T>C c.4056T>C (p.Tyr1352=) n.4949T>C n.2340T>C n.6202T>C c.3960T>C (p.Tyr1320=) c.*4106T>C (n.*4106T>C) c.*4029T>C (n.*4029T>C) c.*4334T>C (n.*4334T>C) c.*4065T>C (n.*4065T>C) c.3666T>C (p.Tyr1222=) c.2722+566T>C c.4017T>C (p.Tyr1339=) c.2996T>C n.3301T>C n.4124T>C c.4134T>C (p.Tyr1378=) c.4113T>C (p.Tyr1371=) c.4095T>C (p.Tyr1365=) c.4077T>C (p.Tyr1359=) c.4038T>C (p.Tyr1346=) c.3999T>C (p.Tyr1333=) c.3723T>C (p.Tyr1241=) c.3684T>C (p.Tyr1228=) c.4074T>C (p.Tyr1358=) c.3981T>C (p.Tyr1327=) c.3456T>C (p.Tyr1152=) c.3771T>C (p.Tyr1257=) n.8343T>C | |
3 | g.9475722T>G | CA351693112 | SETD5 | n.2915T>G c.4056T>G (p.Tyr1352Ter) n.4949T>G n.2340T>G n.6202T>G c.3960T>G (p.Tyr1320Ter) c.*4106T>G (n.*4106T>G) c.*4029T>G (n.*4029T>G) c.*4334T>G (n.*4334T>G) c.*4065T>G (n.*4065T>G) c.3666T>G (p.Tyr1222Ter) c.2722+566T>G c.4017T>G (p.Tyr1339Ter) c.2996T>G n.3301T>G n.4124T>G c.4134T>G (p.Tyr1378Ter) c.4113T>G (p.Tyr1371Ter) c.4095T>G (p.Tyr1365Ter) c.4077T>G (p.Tyr1359Ter) c.4038T>G (p.Tyr1346Ter) c.3999T>G (p.Tyr1333Ter) c.3723T>G (p.Tyr1241Ter) c.3684T>G (p.Tyr1228Ter) c.4074T>G (p.Tyr1358Ter) c.3981T>G (p.Tyr1327Ter) c.3456T>G (p.Tyr1152Ter) c.3771T>G (p.Tyr1257Ter) n.8343T>G | |
3 | g.9475723T>A | CA351693118 | SETD5 | n.2916T>A c.4057T>A (p.Phe1353Ile) n.4950T>A n.2341T>A n.6203T>A c.3961T>A (p.Phe1321Ile) c.*4107T>A (n.*4107T>A) c.*4030T>A (n.*4030T>A) c.*4335T>A (n.*4335T>A) c.*4066T>A (n.*4066T>A) c.3667T>A (p.Phe1223Ile) c.2722+567T>A c.4018T>A (p.Phe1340Ile) c.2997T>A n.3302T>A n.4125T>A c.4135T>A (p.Phe1379Ile) c.4114T>A (p.Phe1372Ile) c.4096T>A (p.Phe1366Ile) c.4078T>A (p.Phe1360Ile) c.4039T>A (p.Phe1347Ile) c.4000T>A (p.Phe1334Ile) c.3724T>A (p.Phe1242Ile) c.3685T>A (p.Phe1229Ile) c.4075T>A (p.Phe1359Ile) c.3982T>A (p.Phe1328Ile) c.3457T>A (p.Phe1153Ile) c.3772T>A (p.Phe1258Ile) n.8344T>A | gnomAD v4 |
3 | g.9475723T>C | CA351693126 | SETD5 | n.2916T>C c.4057T>C (p.Phe1353Leu) n.4950T>C n.2341T>C n.6203T>C c.3961T>C (p.Phe1321Leu) c.*4107T>C (n.*4107T>C) c.*4030T>C (n.*4030T>C) c.*4335T>C (n.*4335T>C) c.*4066T>C (n.*4066T>C) c.3667T>C (p.Phe1223Leu) c.2722+567T>C c.4018T>C (p.Phe1340Leu) c.2997T>C n.3302T>C n.4125T>C c.4135T>C (p.Phe1379Leu) c.4114T>C (p.Phe1372Leu) c.4096T>C (p.Phe1366Leu) c.4078T>C (p.Phe1360Leu) c.4039T>C (p.Phe1347Leu) c.4000T>C (p.Phe1334Leu) c.3724T>C (p.Phe1242Leu) c.3685T>C (p.Phe1229Leu) c.4075T>C (p.Phe1359Leu) c.3982T>C (p.Phe1328Leu) c.3457T>C (p.Phe1153Leu) c.3772T>C (p.Phe1258Leu) n.8344T>C | |
3 | g.9475723T>G | CA351693134 | SETD5 | n.2916T>G c.4057T>G (p.Phe1353Val) n.4950T>G n.2341T>G n.6203T>G c.3961T>G (p.Phe1321Val) c.*4107T>G (n.*4107T>G) c.*4030T>G (n.*4030T>G) c.*4335T>G (n.*4335T>G) c.*4066T>G (n.*4066T>G) c.3667T>G (p.Phe1223Val) c.2722+567T>G c.4018T>G (p.Phe1340Val) c.2997T>G n.3302T>G n.4125T>G c.4135T>G (p.Phe1379Val) c.4114T>G (p.Phe1372Val) c.4096T>G (p.Phe1366Val) c.4078T>G (p.Phe1360Val) c.4039T>G (p.Phe1347Val) c.4000T>G (p.Phe1334Val) c.3724T>G (p.Phe1242Val) c.3685T>G (p.Phe1229Val) c.4075T>G (p.Phe1359Val) c.3982T>G (p.Phe1328Val) c.3457T>G (p.Phe1153Val) c.3772T>G (p.Phe1258Val) n.8344T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475723T= | CA1344742749 | SETD5 | n.2916T= c.4057T= (p.Phe1353=) n.4950T= n.2341T= n.6203T= c.3961T= (p.Phe1321=) c.*4107T= (n.*4107T=) c.*4030T= (n.*4030T=) c.*4335T= (n.*4335T=) c.*4066T= (n.*4066T=) c.3667T= (p.Phe1223=) c.2722+567T= c.4018T= (p.Phe1340=) c.2997T= n.3302T= n.4125T= c.4135T= (p.Phe1379=) c.4114T= (p.Phe1372=) c.4096T= (p.Phe1366=) c.4078T= (p.Phe1360=) c.4039T= (p.Phe1347=) c.4000T= (p.Phe1334=) c.3724T= (p.Phe1242=) c.3685T= (p.Phe1229=) c.4075T= (p.Phe1359=) c.3982T= (p.Phe1328=) c.3457T= (p.Phe1153=) c.3772T= (p.Phe1258=) n.8344T= | |
3 | g.9475724T>A | CA351693138 | SETD5 | n.2917T>A c.4058T>A (p.Phe1353Tyr) n.4951T>A n.2342T>A n.6204T>A c.3962T>A (p.Phe1321Tyr) c.*4108T>A (n.*4108T>A) c.*4031T>A (n.*4031T>A) c.*4336T>A (n.*4336T>A) c.*4067T>A (n.*4067T>A) c.3668T>A (p.Phe1223Tyr) c.2722+568T>A c.4019T>A (p.Phe1340Tyr) c.2998T>A n.3303T>A n.4126T>A c.4136T>A (p.Phe1379Tyr) c.4115T>A (p.Phe1372Tyr) c.4097T>A (p.Phe1366Tyr) c.4079T>A (p.Phe1360Tyr) c.4040T>A (p.Phe1347Tyr) c.4001T>A (p.Phe1334Tyr) c.3725T>A (p.Phe1242Tyr) c.3686T>A (p.Phe1229Tyr) c.4076T>A (p.Phe1359Tyr) c.3983T>A (p.Phe1328Tyr) c.3458T>A (p.Phe1153Tyr) c.3773T>A (p.Phe1258Tyr) n.8345T>A | |
3 | g.9475724T>C | CA351693144 | SETD5 | n.2917T>C c.4058T>C (p.Phe1353Ser) n.4951T>C n.2342T>C n.6204T>C c.3962T>C (p.Phe1321Ser) c.*4108T>C (n.*4108T>C) c.*4031T>C (n.*4031T>C) c.*4336T>C (n.*4336T>C) c.*4067T>C (n.*4067T>C) c.3668T>C (p.Phe1223Ser) c.2722+568T>C c.4019T>C (p.Phe1340Ser) c.2998T>C n.3303T>C n.4126T>C c.4136T>C (p.Phe1379Ser) c.4115T>C (p.Phe1372Ser) c.4097T>C (p.Phe1366Ser) c.4079T>C (p.Phe1360Ser) c.4040T>C (p.Phe1347Ser) c.4001T>C (p.Phe1334Ser) c.3725T>C (p.Phe1242Ser) c.3686T>C (p.Phe1229Ser) c.4076T>C (p.Phe1359Ser) c.3983T>C (p.Phe1328Ser) c.3458T>C (p.Phe1153Ser) c.3773T>C (p.Phe1258Ser) n.8345T>C | |
3 | g.9475724T>G | CA351693146 | SETD5 | n.2917T>G c.4058T>G (p.Phe1353Cys) n.4951T>G n.2342T>G n.6204T>G c.3962T>G (p.Phe1321Cys) c.*4108T>G (n.*4108T>G) c.*4031T>G (n.*4031T>G) c.*4336T>G (n.*4336T>G) c.*4067T>G (n.*4067T>G) c.3668T>G (p.Phe1223Cys) c.2722+568T>G c.4019T>G (p.Phe1340Cys) c.2998T>G n.3303T>G n.4126T>G c.4136T>G (p.Phe1379Cys) c.4115T>G (p.Phe1372Cys) c.4097T>G (p.Phe1366Cys) c.4079T>G (p.Phe1360Cys) c.4040T>G (p.Phe1347Cys) c.4001T>G (p.Phe1334Cys) c.3725T>G (p.Phe1242Cys) c.3686T>G (p.Phe1229Cys) c.4076T>G (p.Phe1359Cys) c.3983T>G (p.Phe1328Cys) c.3458T>G (p.Phe1153Cys) c.3773T>G (p.Phe1258Cys) n.8345T>G | |
3 | g.9475725T>A | CA351693154 | SETD5 | n.2918T>A c.4059T>A (p.Phe1353Leu) n.4952T>A n.2343T>A n.6205T>A c.3963T>A (p.Phe1321Leu) c.*4109T>A (n.*4109T>A) c.*4032T>A (n.*4032T>A) c.*4337T>A (n.*4337T>A) c.*4068T>A (n.*4068T>A) c.3669T>A (p.Phe1223Leu) c.2722+569T>A c.4020T>A (p.Phe1340Leu) c.2999T>A n.3304T>A n.4127T>A c.4137T>A (p.Phe1379Leu) c.4116T>A (p.Phe1372Leu) c.4098T>A (p.Phe1366Leu) c.4080T>A (p.Phe1360Leu) c.4041T>A (p.Phe1347Leu) c.4002T>A (p.Phe1334Leu) c.3726T>A (p.Phe1242Leu) c.3687T>A (p.Phe1229Leu) c.4077T>A (p.Phe1359Leu) c.3984T>A (p.Phe1328Leu) c.3459T>A (p.Phe1153Leu) c.3774T>A (p.Phe1258Leu) n.8346T>A | |
3 | g.9475725T>C | CA432528393 | SETD5 | n.2918T>C c.4059T>C (p.Phe1353=) n.4952T>C n.2343T>C n.6205T>C c.3963T>C (p.Phe1321=) c.*4109T>C (n.*4109T>C) c.*4032T>C (n.*4032T>C) c.*4337T>C (n.*4337T>C) c.*4068T>C (n.*4068T>C) c.3669T>C (p.Phe1223=) c.2722+569T>C c.4020T>C (p.Phe1340=) c.2999T>C n.3304T>C n.4127T>C c.4137T>C (p.Phe1379=) c.4116T>C (p.Phe1372=) c.4098T>C (p.Phe1366=) c.4080T>C (p.Phe1360=) c.4041T>C (p.Phe1347=) c.4002T>C (p.Phe1334=) c.3726T>C (p.Phe1242=) c.3687T>C (p.Phe1229=) c.4077T>C (p.Phe1359=) c.3984T>C (p.Phe1328=) c.3459T>C (p.Phe1153=) c.3774T>C (p.Phe1258=) n.8346T>C | |
3 | g.9475725T>G | CA351693158 | SETD5 | n.2918T>G c.4059T>G (p.Phe1353Leu) n.4952T>G n.2343T>G n.6205T>G c.3963T>G (p.Phe1321Leu) c.*4109T>G (n.*4109T>G) c.*4032T>G (n.*4032T>G) c.*4337T>G (n.*4337T>G) c.*4068T>G (n.*4068T>G) c.3669T>G (p.Phe1223Leu) c.2722+569T>G c.4020T>G (p.Phe1340Leu) c.2999T>G n.3304T>G n.4127T>G c.4137T>G (p.Phe1379Leu) c.4116T>G (p.Phe1372Leu) c.4098T>G (p.Phe1366Leu) c.4080T>G (p.Phe1360Leu) c.4041T>G (p.Phe1347Leu) c.4002T>G (p.Phe1334Leu) c.3726T>G (p.Phe1242Leu) c.3687T>G (p.Phe1229Leu) c.4077T>G (p.Phe1359Leu) c.3984T>G (p.Phe1328Leu) c.3459T>G (p.Phe1153Leu) c.3774T>G (p.Phe1258Leu) n.8346T>G | |
3 | g.9475726A>C | CA351693177 | SETD5 | n.2919A>C c.4060A>C (p.Ser1354Arg) n.4953A>C n.2344A>C n.6206A>C c.3964A>C (p.Ser1322Arg) c.*4110A>C (n.*4110A>C) c.*4033A>C (n.*4033A>C) c.*4338A>C (n.*4338A>C) c.*4069A>C (n.*4069A>C) c.3670A>C (p.Ser1224Arg) c.2722+570A>C c.4021A>C (p.Ser1341Arg) c.3000A>C n.3305A>C n.4128A>C c.4138A>C (p.Ser1380Arg) c.4117A>C (p.Ser1373Arg) c.4099A>C (p.Ser1367Arg) c.4081A>C (p.Ser1361Arg) c.4042A>C (p.Ser1348Arg) c.4003A>C (p.Ser1335Arg) c.3727A>C (p.Ser1243Arg) c.3688A>C (p.Ser1230Arg) c.4078A>C (p.Ser1360Arg) c.3985A>C (p.Ser1329Arg) c.3460A>C (p.Ser1154Arg) c.3775A>C (p.Ser1259Arg) n.8347A>C | |
3 | g.9475726A>G | CA351693181 | SETD5 | n.2919A>G c.4060A>G (p.Ser1354Gly) n.4953A>G n.2344A>G n.6206A>G c.3964A>G (p.Ser1322Gly) c.*4110A>G (n.*4110A>G) c.*4033A>G (n.*4033A>G) c.*4338A>G (n.*4338A>G) c.*4069A>G (n.*4069A>G) c.3670A>G (p.Ser1224Gly) c.2722+570A>G c.4021A>G (p.Ser1341Gly) c.3000A>G n.3305A>G n.4128A>G c.4138A>G (p.Ser1380Gly) c.4117A>G (p.Ser1373Gly) c.4099A>G (p.Ser1367Gly) c.4081A>G (p.Ser1361Gly) c.4042A>G (p.Ser1348Gly) c.4003A>G (p.Ser1335Gly) c.3727A>G (p.Ser1243Gly) c.3688A>G (p.Ser1230Gly) c.4078A>G (p.Ser1360Gly) c.3985A>G (p.Ser1329Gly) c.3460A>G (p.Ser1154Gly) c.3775A>G (p.Ser1259Gly) n.8347A>G | |
3 | g.9475726A>T | CA351693185 | SETD5 | n.2919A>T c.4060A>T (p.Ser1354Cys) n.4953A>T n.2344A>T n.6206A>T c.3964A>T (p.Ser1322Cys) c.*4110A>T (n.*4110A>T) c.*4033A>T (n.*4033A>T) c.*4338A>T (n.*4338A>T) c.*4069A>T (n.*4069A>T) c.3670A>T (p.Ser1224Cys) c.2722+570A>T c.4021A>T (p.Ser1341Cys) c.3000A>T n.3305A>T n.4128A>T c.4138A>T (p.Ser1380Cys) c.4117A>T (p.Ser1373Cys) c.4099A>T (p.Ser1367Cys) c.4081A>T (p.Ser1361Cys) c.4042A>T (p.Ser1348Cys) c.4003A>T (p.Ser1335Cys) c.3727A>T (p.Ser1243Cys) c.3688A>T (p.Ser1230Cys) c.4078A>T (p.Ser1360Cys) c.3985A>T (p.Ser1329Cys) c.3460A>T (p.Ser1154Cys) c.3775A>T (p.Ser1259Cys) n.8347A>T | COSMIC COSMIC |
3 | g.9475727G>A | CA351693188 | SETD5 | n.2920G>A c.4061G>A (p.Ser1354Asn) n.4954G>A n.2345G>A n.6207G>A c.3965G>A (p.Ser1322Asn) c.*4111G>A (n.*4111G>A) c.*4034G>A (n.*4034G>A) c.*4339G>A (n.*4339G>A) c.*4070G>A (n.*4070G>A) c.3671G>A (p.Ser1224Asn) c.2722+571G>A c.4022G>A (p.Ser1341Asn) c.3001G>A n.3306G>A n.4129G>A c.4139G>A (p.Ser1380Asn) c.4118G>A (p.Ser1373Asn) c.4100G>A (p.Ser1367Asn) c.4082G>A (p.Ser1361Asn) c.4043G>A (p.Ser1348Asn) c.4004G>A (p.Ser1335Asn) c.3728G>A (p.Ser1243Asn) c.3689G>A (p.Ser1230Asn) c.4079G>A (p.Ser1360Asn) c.3986G>A (p.Ser1329Asn) c.3461G>A (p.Ser1154Asn) c.3776G>A (p.Ser1259Asn) n.8348G>A | |
3 | g.9475727G>C | CA351693195 | SETD5 | n.2920G>C c.4061G>C (p.Ser1354Thr) n.4954G>C n.2345G>C n.6207G>C c.3965G>C (p.Ser1322Thr) c.*4111G>C (n.*4111G>C) c.*4034G>C (n.*4034G>C) c.*4339G>C (n.*4339G>C) c.*4070G>C (n.*4070G>C) c.3671G>C (p.Ser1224Thr) c.2722+571G>C c.4022G>C (p.Ser1341Thr) c.3001G>C n.3306G>C n.4129G>C c.4139G>C (p.Ser1380Thr) c.4118G>C (p.Ser1373Thr) c.4100G>C (p.Ser1367Thr) c.4082G>C (p.Ser1361Thr) c.4043G>C (p.Ser1348Thr) c.4004G>C (p.Ser1335Thr) c.3728G>C (p.Ser1243Thr) c.3689G>C (p.Ser1230Thr) c.4079G>C (p.Ser1360Thr) c.3986G>C (p.Ser1329Thr) c.3461G>C (p.Ser1154Thr) c.3776G>C (p.Ser1259Thr) n.8348G>C | |
3 | g.9475727G>T | CA351693202 | SETD5 | n.2920G>T c.4061G>T (p.Ser1354Ile) n.4954G>T n.2345G>T n.6207G>T c.3965G>T (p.Ser1322Ile) c.*4111G>T (n.*4111G>T) c.*4034G>T (n.*4034G>T) c.*4339G>T (n.*4339G>T) c.*4070G>T (n.*4070G>T) c.3671G>T (p.Ser1224Ile) c.2722+571G>T c.4022G>T (p.Ser1341Ile) c.3001G>T n.3306G>T n.4129G>T c.4139G>T (p.Ser1380Ile) c.4118G>T (p.Ser1373Ile) c.4100G>T (p.Ser1367Ile) c.4082G>T (p.Ser1361Ile) c.4043G>T (p.Ser1348Ile) c.4004G>T (p.Ser1335Ile) c.3728G>T (p.Ser1243Ile) c.3689G>T (p.Ser1230Ile) c.4079G>T (p.Ser1360Ile) c.3986G>T (p.Ser1329Ile) c.3461G>T (p.Ser1154Ile) c.3776G>T (p.Ser1259Ile) n.8348G>T | |
3 | g.9475728C>A | CA351693209 | SETD5 | n.2921C>A c.4062C>A (p.Ser1354Arg) n.4955C>A n.2346C>A n.6208C>A c.3966C>A (p.Ser1322Arg) c.*4112C>A (n.*4112C>A) c.*4035C>A (n.*4035C>A) c.*4340C>A (n.*4340C>A) c.*4071C>A (n.*4071C>A) c.3672C>A (p.Ser1224Arg) c.2722+572C>A c.4023C>A (p.Ser1341Arg) c.3002C>A n.3307C>A n.4130C>A c.4140C>A (p.Ser1380Arg) c.4119C>A (p.Ser1373Arg) c.4101C>A (p.Ser1367Arg) c.4083C>A (p.Ser1361Arg) c.4044C>A (p.Ser1348Arg) c.4005C>A (p.Ser1335Arg) c.3729C>A (p.Ser1243Arg) c.3690C>A (p.Ser1230Arg) c.4080C>A (p.Ser1360Arg) c.3987C>A (p.Ser1329Arg) c.3462C>A (p.Ser1154Arg) c.3777C>A (p.Ser1259Arg) n.8349C>A | |
3 | g.9475728C= | CA1344742752 | SETD5 | n.2921C= c.4062C= (p.Ser1354=) n.4955C= n.2346C= n.6208C= c.3966C= (p.Ser1322=) c.*4112C= (n.*4112C=) c.*4035C= (n.*4035C=) c.*4340C= (n.*4340C=) c.*4071C= (n.*4071C=) c.3672C= (p.Ser1224=) c.2722+572C= c.4023C= (p.Ser1341=) c.3002C= n.3307C= n.4130C= c.4140C= (p.Ser1380=) c.4119C= (p.Ser1373=) c.4101C= (p.Ser1367=) c.4083C= (p.Ser1361=) c.4044C= (p.Ser1348=) c.4005C= (p.Ser1335=) c.3729C= (p.Ser1243=) c.3690C= (p.Ser1230=) c.4080C= (p.Ser1360=) c.3987C= (p.Ser1329=) c.3462C= (p.Ser1154=) c.3777C= (p.Ser1259=) n.8349C= | |
3 | g.9475728C>G | CA351693211 | SETD5 | n.2921C>G c.4062C>G (p.Ser1354Arg) n.4955C>G n.2346C>G n.6208C>G c.3966C>G (p.Ser1322Arg) c.*4112C>G (n.*4112C>G) c.*4035C>G (n.*4035C>G) c.*4340C>G (n.*4340C>G) c.*4071C>G (n.*4071C>G) c.3672C>G (p.Ser1224Arg) c.2722+572C>G c.4023C>G (p.Ser1341Arg) c.3002C>G n.3307C>G n.4130C>G c.4140C>G (p.Ser1380Arg) c.4119C>G (p.Ser1373Arg) c.4101C>G (p.Ser1367Arg) c.4083C>G (p.Ser1361Arg) c.4044C>G (p.Ser1348Arg) c.4005C>G (p.Ser1335Arg) c.3729C>G (p.Ser1243Arg) c.3690C>G (p.Ser1230Arg) c.4080C>G (p.Ser1360Arg) c.3987C>G (p.Ser1329Arg) c.3462C>G (p.Ser1154Arg) c.3777C>G (p.Ser1259Arg) n.8349C>G | |
3 | g.9475728C>T | CA432528398 | SETD5 | n.2921C>T c.4062C>T (p.Ser1354=) n.4955C>T n.2346C>T n.6208C>T c.3966C>T (p.Ser1322=) c.*4112C>T (n.*4112C>T) c.*4035C>T (n.*4035C>T) c.*4340C>T (n.*4340C>T) c.*4071C>T (n.*4071C>T) c.3672C>T (p.Ser1224=) c.2722+572C>T c.4023C>T (p.Ser1341=) c.3002C>T n.3307C>T n.4130C>T c.4140C>T (p.Ser1380=) c.4119C>T (p.Ser1373=) c.4101C>T (p.Ser1367=) c.4083C>T (p.Ser1361=) c.4044C>T (p.Ser1348=) c.4005C>T (p.Ser1335=) c.3729C>T (p.Ser1243=) c.3690C>T (p.Ser1230=) c.4080C>T (p.Ser1360=) c.3987C>T (p.Ser1329=) c.3462C>T (p.Ser1154=) c.3777C>T (p.Ser1259=) n.8349C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475729A= | CA1344742756 | SETD5 | n.2922A= c.4063A= (p.Ser1355=) n.4956A= n.2347A= n.6209A= c.3967A= (p.Ser1323=) c.*4113A= (n.*4113A=) c.*4036A= (n.*4036A=) c.*4341A= (n.*4341A=) c.*4072A= (n.*4072A=) c.3673A= (p.Ser1225=) c.2722+573A= c.4024A= (p.Ser1342=) c.3003A= n.3308A= n.4131A= c.4141A= (p.Ser1381=) c.4120A= (p.Ser1374=) c.4102A= (p.Ser1368=) c.4084A= (p.Ser1362=) c.4045A= (p.Ser1349=) c.4006A= (p.Ser1336=) c.3730A= (p.Ser1244=) c.3691A= (p.Ser1231=) c.4081A= (p.Ser1361=) c.3988A= (p.Ser1330=) c.3463A= (p.Ser1155=) c.3778A= (p.Ser1260=) n.8350A= | |
3 | g.9475729A>C | CA351693217 | SETD5 | n.2922A>C c.4063A>C (p.Ser1355Arg) n.4956A>C n.2347A>C n.6209A>C c.3967A>C (p.Ser1323Arg) c.*4113A>C (n.*4113A>C) c.*4036A>C (n.*4036A>C) c.*4341A>C (n.*4341A>C) c.*4072A>C (n.*4072A>C) c.3673A>C (p.Ser1225Arg) c.2722+573A>C c.4024A>C (p.Ser1342Arg) c.3003A>C n.3308A>C n.4131A>C c.4141A>C (p.Ser1381Arg) c.4120A>C (p.Ser1374Arg) c.4102A>C (p.Ser1368Arg) c.4084A>C (p.Ser1362Arg) c.4045A>C (p.Ser1349Arg) c.4006A>C (p.Ser1336Arg) c.3730A>C (p.Ser1244Arg) c.3691A>C (p.Ser1231Arg) c.4081A>C (p.Ser1361Arg) c.3988A>C (p.Ser1330Arg) c.3463A>C (p.Ser1155Arg) c.3778A>C (p.Ser1260Arg) n.8350A>C | dbSNP |
3 | g.9475729A>G | CA351693225 | SETD5 | n.2922A>G c.4063A>G (p.Ser1355Gly) n.4956A>G n.2347A>G n.6209A>G c.3967A>G (p.Ser1323Gly) c.*4113A>G (n.*4113A>G) c.*4036A>G (n.*4036A>G) c.*4341A>G (n.*4341A>G) c.*4072A>G (n.*4072A>G) c.3673A>G (p.Ser1225Gly) c.2722+573A>G c.4024A>G (p.Ser1342Gly) c.3003A>G n.3308A>G n.4131A>G c.4141A>G (p.Ser1381Gly) c.4120A>G (p.Ser1374Gly) c.4102A>G (p.Ser1368Gly) c.4084A>G (p.Ser1362Gly) c.4045A>G (p.Ser1349Gly) c.4006A>G (p.Ser1336Gly) c.3730A>G (p.Ser1244Gly) c.3691A>G (p.Ser1231Gly) c.4081A>G (p.Ser1361Gly) c.3988A>G (p.Ser1330Gly) c.3463A>G (p.Ser1155Gly) c.3778A>G (p.Ser1260Gly) n.8350A>G | |
3 | g.9475729A>T | CA351693230 | SETD5 | n.2922A>T c.4063A>T (p.Ser1355Cys) n.4956A>T n.2347A>T n.6209A>T c.3967A>T (p.Ser1323Cys) c.*4113A>T (n.*4113A>T) c.*4036A>T (n.*4036A>T) c.*4341A>T (n.*4341A>T) c.*4072A>T (n.*4072A>T) c.3673A>T (p.Ser1225Cys) c.2722+573A>T c.4024A>T (p.Ser1342Cys) c.3003A>T n.3308A>T n.4131A>T c.4141A>T (p.Ser1381Cys) c.4120A>T (p.Ser1374Cys) c.4102A>T (p.Ser1368Cys) c.4084A>T (p.Ser1362Cys) c.4045A>T (p.Ser1349Cys) c.4006A>T (p.Ser1336Cys) c.3730A>T (p.Ser1244Cys) c.3691A>T (p.Ser1231Cys) c.4081A>T (p.Ser1361Cys) c.3988A>T (p.Ser1330Cys) c.3463A>T (p.Ser1155Cys) c.3778A>T (p.Ser1260Cys) n.8350A>T | |
3 | g.9475730G>A | CA351693235 | SETD5 | n.2923G>A c.4064G>A (p.Ser1355Asn) n.4957G>A n.2348G>A n.6210G>A c.3968G>A (p.Ser1323Asn) c.*4114G>A (n.*4114G>A) c.*4037G>A (n.*4037G>A) c.*4342G>A (n.*4342G>A) c.*4073G>A (n.*4073G>A) c.3674G>A (p.Ser1225Asn) c.2722+574G>A c.4025G>A (p.Ser1342Asn) c.3004G>A n.3309G>A n.4132G>A c.4142G>A (p.Ser1381Asn) c.4121G>A (p.Ser1374Asn) c.4103G>A (p.Ser1368Asn) c.4085G>A (p.Ser1362Asn) c.4046G>A (p.Ser1349Asn) c.4007G>A (p.Ser1336Asn) c.3731G>A (p.Ser1244Asn) c.3692G>A (p.Ser1231Asn) c.4082G>A (p.Ser1361Asn) c.3989G>A (p.Ser1330Asn) c.3464G>A (p.Ser1155Asn) c.3779G>A (p.Ser1260Asn) n.8351G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475730G>C | CA351693240 | SETD5 | n.2923G>C c.4064G>C (p.Ser1355Thr) n.4957G>C n.2348G>C n.6210G>C c.3968G>C (p.Ser1323Thr) c.*4114G>C (n.*4114G>C) c.*4037G>C (n.*4037G>C) c.*4342G>C (n.*4342G>C) c.*4073G>C (n.*4073G>C) c.3674G>C (p.Ser1225Thr) c.2722+574G>C c.4025G>C (p.Ser1342Thr) c.3004G>C n.3309G>C n.4132G>C c.4142G>C (p.Ser1381Thr) c.4121G>C (p.Ser1374Thr) c.4103G>C (p.Ser1368Thr) c.4085G>C (p.Ser1362Thr) c.4046G>C (p.Ser1349Thr) c.4007G>C (p.Ser1336Thr) c.3731G>C (p.Ser1244Thr) c.3692G>C (p.Ser1231Thr) c.4082G>C (p.Ser1361Thr) c.3989G>C (p.Ser1330Thr) c.3464G>C (p.Ser1155Thr) c.3779G>C (p.Ser1260Thr) n.8351G>C | |
3 | g.9475730G= | CA1344742760 | SETD5 | n.2923G= c.4064G= (p.Ser1355=) n.4957G= n.2348G= n.6210G= c.3968G= (p.Ser1323=) c.*4114G= (n.*4114G=) c.*4037G= (n.*4037G=) c.*4342G= (n.*4342G=) c.*4073G= (n.*4073G=) c.3674G= (p.Ser1225=) c.2722+574G= c.4025G= (p.Ser1342=) c.3004G= n.3309G= n.4132G= c.4142G= (p.Ser1381=) c.4121G= (p.Ser1374=) c.4103G= (p.Ser1368=) c.4085G= (p.Ser1362=) c.4046G= (p.Ser1349=) c.4007G= (p.Ser1336=) c.3731G= (p.Ser1244=) c.3692G= (p.Ser1231=) c.4082G= (p.Ser1361=) c.3989G= (p.Ser1330=) c.3464G= (p.Ser1155=) c.3779G= (p.Ser1260=) n.8351G= | |
3 | g.9475730G>T | CA351693244 | SETD5 | n.2923G>T c.4064G>T (p.Ser1355Ile) n.4957G>T n.2348G>T n.6210G>T c.3968G>T (p.Ser1323Ile) c.*4114G>T (n.*4114G>T) c.*4037G>T (n.*4037G>T) c.*4342G>T (n.*4342G>T) c.*4073G>T (n.*4073G>T) c.3674G>T (p.Ser1225Ile) c.2722+574G>T c.4025G>T (p.Ser1342Ile) c.3004G>T n.3309G>T n.4132G>T c.4142G>T (p.Ser1381Ile) c.4121G>T (p.Ser1374Ile) c.4103G>T (p.Ser1368Ile) c.4085G>T (p.Ser1362Ile) c.4046G>T (p.Ser1349Ile) c.4007G>T (p.Ser1336Ile) c.3731G>T (p.Ser1244Ile) c.3692G>T (p.Ser1231Ile) c.4082G>T (p.Ser1361Ile) c.3989G>T (p.Ser1330Ile) c.3464G>T (p.Ser1155Ile) c.3779G>T (p.Ser1260Ile) n.8351G>T | |
3 | g.9475731C>A | CA351693253 | SETD5 | n.2924C>A c.4065C>A (p.Ser1355Arg) n.4958C>A n.2349C>A n.6211C>A c.3969C>A (p.Ser1323Arg) c.*4115C>A (n.*4115C>A) c.*4038C>A (n.*4038C>A) c.*4343C>A (n.*4343C>A) c.*4074C>A (n.*4074C>A) c.3675C>A (p.Ser1225Arg) c.2722+575C>A c.4026C>A (p.Ser1342Arg) c.3005C>A n.3310C>A n.4133C>A c.4143C>A (p.Ser1381Arg) c.4122C>A (p.Ser1374Arg) c.4104C>A (p.Ser1368Arg) c.4086C>A (p.Ser1362Arg) c.4047C>A (p.Ser1349Arg) c.4008C>A (p.Ser1336Arg) c.3732C>A (p.Ser1244Arg) c.3693C>A (p.Ser1231Arg) c.4083C>A (p.Ser1361Arg) c.3990C>A (p.Ser1330Arg) c.3465C>A (p.Ser1155Arg) c.3780C>A (p.Ser1260Arg) n.8352C>A | |
3 | g.9475731C= | CA1344742763 | SETD5 | n.2924C= c.4065C= (p.Ser1355=) n.4958C= n.2349C= n.6211C= c.3969C= (p.Ser1323=) c.*4115C= (n.*4115C=) c.*4038C= (n.*4038C=) c.*4343C= (n.*4343C=) c.*4074C= (n.*4074C=) c.3675C= (p.Ser1225=) c.2722+575C= c.4026C= (p.Ser1342=) c.3005C= n.3310C= n.4133C= c.4143C= (p.Ser1381=) c.4122C= (p.Ser1374=) c.4104C= (p.Ser1368=) c.4086C= (p.Ser1362=) c.4047C= (p.Ser1349=) c.4008C= (p.Ser1336=) c.3732C= (p.Ser1244=) c.3693C= (p.Ser1231=) c.4083C= (p.Ser1361=) c.3990C= (p.Ser1330=) c.3465C= (p.Ser1155=) c.3780C= (p.Ser1260=) n.8352C= | |
3 | g.9475731C>G | CA351693260 | SETD5 | n.2924C>G c.4065C>G (p.Ser1355Arg) n.4958C>G n.2349C>G n.6211C>G c.3969C>G (p.Ser1323Arg) c.*4115C>G (n.*4115C>G) c.*4038C>G (n.*4038C>G) c.*4343C>G (n.*4343C>G) c.*4074C>G (n.*4074C>G) c.3675C>G (p.Ser1225Arg) c.2722+575C>G c.4026C>G (p.Ser1342Arg) c.3005C>G n.3310C>G n.4133C>G c.4143C>G (p.Ser1381Arg) c.4122C>G (p.Ser1374Arg) c.4104C>G (p.Ser1368Arg) c.4086C>G (p.Ser1362Arg) c.4047C>G (p.Ser1349Arg) c.4008C>G (p.Ser1336Arg) c.3732C>G (p.Ser1244Arg) c.3693C>G (p.Ser1231Arg) c.4083C>G (p.Ser1361Arg) c.3990C>G (p.Ser1330Arg) c.3465C>G (p.Ser1155Arg) c.3780C>G (p.Ser1260Arg) n.8352C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475731C>T | CA432528402 | SETD5 | n.2924C>T c.4065C>T (p.Ser1355=) n.4958C>T n.2349C>T n.6211C>T c.3969C>T (p.Ser1323=) c.*4115C>T (n.*4115C>T) c.*4038C>T (n.*4038C>T) c.*4343C>T (n.*4343C>T) c.*4074C>T (n.*4074C>T) c.3675C>T (p.Ser1225=) c.2722+575C>T c.4026C>T (p.Ser1342=) c.3005C>T n.3310C>T n.4133C>T c.4143C>T (p.Ser1381=) c.4122C>T (p.Ser1374=) c.4104C>T (p.Ser1368=) c.4086C>T (p.Ser1362=) c.4047C>T (p.Ser1349=) c.4008C>T (p.Ser1336=) c.3732C>T (p.Ser1244=) c.3693C>T (p.Ser1231=) c.4083C>T (p.Ser1361=) c.3990C>T (p.Ser1330=) c.3465C>T (p.Ser1155=) c.3780C>T (p.Ser1260=) n.8352C>T | |
3 | g.9475732del | CA2739278340 | SETD5 | n.2925del c.4066del (p.Gln1356SerfsTer?) n.4959del n.2350del n.6212del c.3970del (p.Gln1324SerfsTer?) c.*4116del (n.*4116del) c.*4039del (n.*4039del) c.*4344del (n.*4344del) c.*4075del (n.*4075del) c.3676del (p.Gln1226SerfsTer?) c.2722+576del c.4027del (p.Gln1343SerfsTer?) c.3006del n.3311del n.4134del c.4144del (p.Gln1382SerfsTer?) c.4123del (p.Gln1375SerfsTer?) c.4105del (p.Gln1369SerfsTer?) c.4087del (p.Gln1363SerfsTer?) c.4048del (p.Gln1350SerfsTer?) c.4009del (p.Gln1337SerfsTer?) c.3733del (p.Gln1245SerfsTer?) c.3694del (p.Gln1232SerfsTer?) c.4084del (p.Gln1362SerfsTer?) c.3991del (p.Gln1331SerfsTer?) c.3466del (p.Gln1156SerfsTer?) c.3781del (p.Gln1261SerfsTer?) n.8353del | ClinVar |
3 | g.9475732C>A | CA351693270 | SETD5 | n.2925C>A c.4066C>A (p.Gln1356Lys) n.4959C>A n.2350C>A n.6212C>A c.3970C>A (p.Gln1324Lys) c.*4116C>A (n.*4116C>A) c.*4039C>A (n.*4039C>A) c.*4344C>A (n.*4344C>A) c.*4075C>A (n.*4075C>A) c.3676C>A (p.Gln1226Lys) c.2722+576C>A c.4027C>A (p.Gln1343Lys) c.3006C>A n.3311C>A n.4134C>A c.4144C>A (p.Gln1382Lys) c.4123C>A (p.Gln1375Lys) c.4105C>A (p.Gln1369Lys) c.4087C>A (p.Gln1363Lys) c.4048C>A (p.Gln1350Lys) c.4009C>A (p.Gln1337Lys) c.3733C>A (p.Gln1245Lys) c.3694C>A (p.Gln1232Lys) c.4084C>A (p.Gln1362Lys) c.3991C>A (p.Gln1331Lys) c.3466C>A (p.Gln1156Lys) c.3781C>A (p.Gln1261Lys) n.8353C>A | |
3 | g.9475732C>G | CA351693274 | SETD5 | n.2925C>G c.4066C>G (p.Gln1356Glu) n.4959C>G n.2350C>G n.6212C>G c.3970C>G (p.Gln1324Glu) c.*4116C>G (n.*4116C>G) c.*4039C>G (n.*4039C>G) c.*4344C>G (n.*4344C>G) c.*4075C>G (n.*4075C>G) c.3676C>G (p.Gln1226Glu) c.2722+576C>G c.4027C>G (p.Gln1343Glu) c.3006C>G n.3311C>G n.4134C>G c.4144C>G (p.Gln1382Glu) c.4123C>G (p.Gln1375Glu) c.4105C>G (p.Gln1369Glu) c.4087C>G (p.Gln1363Glu) c.4048C>G (p.Gln1350Glu) c.4009C>G (p.Gln1337Glu) c.3733C>G (p.Gln1245Glu) c.3694C>G (p.Gln1232Glu) c.4084C>G (p.Gln1362Glu) c.3991C>G (p.Gln1331Glu) c.3466C>G (p.Gln1156Glu) c.3781C>G (p.Gln1261Glu) n.8353C>G | |
3 | g.9475732C>T | CA351693279 | SETD5 | n.2925C>T c.4066C>T (p.Gln1356Ter) n.4959C>T n.2350C>T n.6212C>T c.3970C>T (p.Gln1324Ter) c.*4116C>T (n.*4116C>T) c.*4039C>T (n.*4039C>T) c.*4344C>T (n.*4344C>T) c.*4075C>T (n.*4075C>T) c.3676C>T (p.Gln1226Ter) c.2722+576C>T c.4027C>T (p.Gln1343Ter) c.3006C>T n.3311C>T n.4134C>T c.4144C>T (p.Gln1382Ter) c.4123C>T (p.Gln1375Ter) c.4105C>T (p.Gln1369Ter) c.4087C>T (p.Gln1363Ter) c.4048C>T (p.Gln1350Ter) c.4009C>T (p.Gln1337Ter) c.3733C>T (p.Gln1245Ter) c.3694C>T (p.Gln1232Ter) c.4084C>T (p.Gln1362Ter) c.3991C>T (p.Gln1331Ter) c.3466C>T (p.Gln1156Ter) c.3781C>T (p.Gln1261Ter) n.8353C>T | gnomAD v4 |
3 | g.9475733A>C | CA351693282 | SETD5 | n.2926A>C c.4067A>C (p.Gln1356Pro) n.4960A>C n.2351A>C n.6213A>C c.3971A>C (p.Gln1324Pro) c.*4117A>C (n.*4117A>C) c.*4040A>C (n.*4040A>C) c.*4345A>C (n.*4345A>C) c.*4076A>C (n.*4076A>C) c.3677A>C (p.Gln1226Pro) c.2722+577A>C c.4028A>C (p.Gln1343Pro) c.3007A>C n.3312A>C n.4135A>C c.4145A>C (p.Gln1382Pro) c.4124A>C (p.Gln1375Pro) c.4106A>C (p.Gln1369Pro) c.4088A>C (p.Gln1363Pro) c.4049A>C (p.Gln1350Pro) c.4010A>C (p.Gln1337Pro) c.3734A>C (p.Gln1245Pro) c.3695A>C (p.Gln1232Pro) c.4085A>C (p.Gln1362Pro) c.3992A>C (p.Gln1331Pro) c.3467A>C (p.Gln1156Pro) c.3782A>C (p.Gln1261Pro) n.8354A>C | |
3 | g.9475733A>G | CA351693283 | SETD5 | n.2926A>G c.4067A>G (p.Gln1356Arg) n.4960A>G n.2351A>G n.6213A>G c.3971A>G (p.Gln1324Arg) c.*4117A>G (n.*4117A>G) c.*4040A>G (n.*4040A>G) c.*4345A>G (n.*4345A>G) c.*4076A>G (n.*4076A>G) c.3677A>G (p.Gln1226Arg) c.2722+577A>G c.4028A>G (p.Gln1343Arg) c.3007A>G n.3312A>G n.4135A>G c.4145A>G (p.Gln1382Arg) c.4124A>G (p.Gln1375Arg) c.4106A>G (p.Gln1369Arg) c.4088A>G (p.Gln1363Arg) c.4049A>G (p.Gln1350Arg) c.4010A>G (p.Gln1337Arg) c.3734A>G (p.Gln1245Arg) c.3695A>G (p.Gln1232Arg) c.4085A>G (p.Gln1362Arg) c.3992A>G (p.Gln1331Arg) c.3467A>G (p.Gln1156Arg) c.3782A>G (p.Gln1261Arg) n.8354A>G | |
3 | g.9475733A>T | CA351693287 | SETD5 | n.2926A>T c.4067A>T (p.Gln1356Leu) n.4960A>T n.2351A>T n.6213A>T c.3971A>T (p.Gln1324Leu) c.*4117A>T (n.*4117A>T) c.*4040A>T (n.*4040A>T) c.*4345A>T (n.*4345A>T) c.*4076A>T (n.*4076A>T) c.3677A>T (p.Gln1226Leu) c.2722+577A>T c.4028A>T (p.Gln1343Leu) c.3007A>T n.3312A>T n.4135A>T c.4145A>T (p.Gln1382Leu) c.4124A>T (p.Gln1375Leu) c.4106A>T (p.Gln1369Leu) c.4088A>T (p.Gln1363Leu) c.4049A>T (p.Gln1350Leu) c.4010A>T (p.Gln1337Leu) c.3734A>T (p.Gln1245Leu) c.3695A>T (p.Gln1232Leu) c.4085A>T (p.Gln1362Leu) c.3992A>T (p.Gln1331Leu) c.3467A>T (p.Gln1156Leu) c.3782A>T (p.Gln1261Leu) n.8354A>T | |
3 | g.9475734G>A | CA432528407 | SETD5 | n.2927G>A c.4068G>A (p.Gln1356=) n.4961G>A n.2352G>A n.6214G>A c.3972G>A (p.Gln1324=) c.*4118G>A (n.*4118G>A) c.*4041G>A (n.*4041G>A) c.*4346G>A (n.*4346G>A) c.*4077G>A (n.*4077G>A) c.3678G>A (p.Gln1226=) c.2722+578G>A c.4029G>A (p.Gln1343=) c.3008G>A n.3313G>A n.4136G>A c.4146G>A (p.Gln1382=) c.4125G>A (p.Gln1375=) c.4107G>A (p.Gln1369=) c.4089G>A (p.Gln1363=) c.4050G>A (p.Gln1350=) c.4011G>A (p.Gln1337=) c.3735G>A (p.Gln1245=) c.3696G>A (p.Gln1232=) c.4086G>A (p.Gln1362=) c.3993G>A (p.Gln1331=) c.3468G>A (p.Gln1156=) c.3783G>A (p.Gln1261=) n.8355G>A | dbSNP gnomAD v3 gnomAD v4 |
3 | g.9475734G>C | CA351693294 | SETD5 | n.2927G>C c.4068G>C (p.Gln1356His) n.4961G>C n.2352G>C n.6214G>C c.3972G>C (p.Gln1324His) c.*4118G>C (n.*4118G>C) c.*4041G>C (n.*4041G>C) c.*4346G>C (n.*4346G>C) c.*4077G>C (n.*4077G>C) c.3678G>C (p.Gln1226His) c.2722+578G>C c.4029G>C (p.Gln1343His) c.3008G>C n.3313G>C n.4136G>C c.4146G>C (p.Gln1382His) c.4125G>C (p.Gln1375His) c.4107G>C (p.Gln1369His) c.4089G>C (p.Gln1363His) c.4050G>C (p.Gln1350His) c.4011G>C (p.Gln1337His) c.3735G>C (p.Gln1245His) c.3696G>C (p.Gln1232His) c.4086G>C (p.Gln1362His) c.3993G>C (p.Gln1331His) c.3468G>C (p.Gln1156His) c.3783G>C (p.Gln1261His) n.8355G>C | |
3 | g.9475734G= | CA1344742766 | SETD5 | n.2927G= c.4068G= (p.Gln1356=) n.4961G= n.2352G= n.6214G= c.3972G= (p.Gln1324=) c.*4118G= (n.*4118G=) c.*4041G= (n.*4041G=) c.*4346G= (n.*4346G=) c.*4077G= (n.*4077G=) c.3678G= (p.Gln1226=) c.2722+578G= c.4029G= (p.Gln1343=) c.3008G= n.3313G= n.4136G= c.4146G= (p.Gln1382=) c.4125G= (p.Gln1375=) c.4107G= (p.Gln1369=) c.4089G= (p.Gln1363=) c.4050G= (p.Gln1350=) c.4011G= (p.Gln1337=) c.3735G= (p.Gln1245=) c.3696G= (p.Gln1232=) c.4086G= (p.Gln1362=) c.3993G= (p.Gln1331=) c.3468G= (p.Gln1156=) c.3783G= (p.Gln1261=) n.8355G= | |
3 | g.9475734G>T | CA351693300 | SETD5 | n.2927G>T c.4068G>T (p.Gln1356His) n.4961G>T n.2352G>T n.6214G>T c.3972G>T (p.Gln1324His) c.*4118G>T (n.*4118G>T) c.*4041G>T (n.*4041G>T) c.*4346G>T (n.*4346G>T) c.*4077G>T (n.*4077G>T) c.3678G>T (p.Gln1226His) c.2722+578G>T c.4029G>T (p.Gln1343His) c.3008G>T n.3313G>T n.4136G>T c.4146G>T (p.Gln1382His) c.4125G>T (p.Gln1375His) c.4107G>T (p.Gln1369His) c.4089G>T (p.Gln1363His) c.4050G>T (p.Gln1350His) c.4011G>T (p.Gln1337His) c.3735G>T (p.Gln1245His) c.3696G>T (p.Gln1232His) c.4086G>T (p.Gln1362His) c.3993G>T (p.Gln1331His) c.3468G>T (p.Gln1156His) c.3783G>T (p.Gln1261His) n.8355G>T | |
3 | g.9475735C>A | CA351693307 | SETD5 | n.2928C>A c.4069C>A (p.Pro1357Thr) n.4962C>A n.2353C>A n.6215C>A c.3973C>A (p.Pro1325Thr) c.*4119C>A (n.*4119C>A) c.*4042C>A (n.*4042C>A) c.*4347C>A (n.*4347C>A) c.*4078C>A (n.*4078C>A) c.3679C>A (p.Pro1227Thr) c.2722+579C>A c.4030C>A (p.Pro1344Thr) c.3009C>A n.3314C>A n.4137C>A c.4147C>A (p.Pro1383Thr) c.4126C>A (p.Pro1376Thr) c.4108C>A (p.Pro1370Thr) c.4090C>A (p.Pro1364Thr) c.4051C>A (p.Pro1351Thr) c.4012C>A (p.Pro1338Thr) c.3736C>A (p.Pro1246Thr) c.3697C>A (p.Pro1233Thr) c.4087C>A (p.Pro1363Thr) c.3994C>A (p.Pro1332Thr) c.3469C>A (p.Pro1157Thr) c.3784C>A (p.Pro1262Thr) n.8356C>A | |
3 | g.9475735C>G | CA351693308 | SETD5 | n.2928C>G c.4069C>G (p.Pro1357Ala) n.4962C>G n.2353C>G n.6215C>G c.3973C>G (p.Pro1325Ala) c.*4119C>G (n.*4119C>G) c.*4042C>G (n.*4042C>G) c.*4347C>G (n.*4347C>G) c.*4078C>G (n.*4078C>G) c.3679C>G (p.Pro1227Ala) c.2722+579C>G c.4030C>G (p.Pro1344Ala) c.3009C>G n.3314C>G n.4137C>G c.4147C>G (p.Pro1383Ala) c.4126C>G (p.Pro1376Ala) c.4108C>G (p.Pro1370Ala) c.4090C>G (p.Pro1364Ala) c.4051C>G (p.Pro1351Ala) c.4012C>G (p.Pro1338Ala) c.3736C>G (p.Pro1246Ala) c.3697C>G (p.Pro1233Ala) c.4087C>G (p.Pro1363Ala) c.3994C>G (p.Pro1332Ala) c.3469C>G (p.Pro1157Ala) c.3784C>G (p.Pro1262Ala) n.8356C>G | |
3 | g.9475735C>T | CA351693310 | SETD5 | n.2928C>T c.4069C>T (p.Pro1357Ser) n.4962C>T n.2353C>T n.6215C>T c.3973C>T (p.Pro1325Ser) c.*4119C>T (n.*4119C>T) c.*4042C>T (n.*4042C>T) c.*4347C>T (n.*4347C>T) c.*4078C>T (n.*4078C>T) c.3679C>T (p.Pro1227Ser) c.2722+579C>T c.4030C>T (p.Pro1344Ser) c.3009C>T n.3314C>T n.4137C>T c.4147C>T (p.Pro1383Ser) c.4126C>T (p.Pro1376Ser) c.4108C>T (p.Pro1370Ser) c.4090C>T (p.Pro1364Ser) c.4051C>T (p.Pro1351Ser) c.4012C>T (p.Pro1338Ser) c.3736C>T (p.Pro1246Ser) c.3697C>T (p.Pro1233Ser) c.4087C>T (p.Pro1363Ser) c.3994C>T (p.Pro1332Ser) c.3469C>T (p.Pro1157Ser) c.3784C>T (p.Pro1262Ser) n.8356C>T | |
3 | g.9475736C>A | CA351693320 | SETD5 | n.2929C>A c.4070C>A (p.Pro1357Gln) n.4963C>A n.2354C>A n.6216C>A c.3974C>A (p.Pro1325Gln) c.*4120C>A (n.*4120C>A) c.*4043C>A (n.*4043C>A) c.*4348C>A (n.*4348C>A) c.*4079C>A (n.*4079C>A) c.3680C>A (p.Pro1227Gln) c.2722+580C>A c.4031C>A (p.Pro1344Gln) c.3010C>A n.3315C>A n.4138C>A c.4148C>A (p.Pro1383Gln) c.4127C>A (p.Pro1376Gln) c.4109C>A (p.Pro1370Gln) c.4091C>A (p.Pro1364Gln) c.4052C>A (p.Pro1351Gln) c.4013C>A (p.Pro1338Gln) c.3737C>A (p.Pro1246Gln) c.3698C>A (p.Pro1233Gln) c.4088C>A (p.Pro1363Gln) c.3995C>A (p.Pro1332Gln) c.3470C>A (p.Pro1157Gln) c.3785C>A (p.Pro1262Gln) n.8357C>A | |
3 | g.9475736C>G | CA351693319 | SETD5 | n.2929C>G c.4070C>G (p.Pro1357Arg) n.4963C>G n.2354C>G n.6216C>G c.3974C>G (p.Pro1325Arg) c.*4120C>G (n.*4120C>G) c.*4043C>G (n.*4043C>G) c.*4348C>G (n.*4348C>G) c.*4079C>G (n.*4079C>G) c.3680C>G (p.Pro1227Arg) c.2722+580C>G c.4031C>G (p.Pro1344Arg) c.3010C>G n.3315C>G n.4138C>G c.4148C>G (p.Pro1383Arg) c.4127C>G (p.Pro1376Arg) c.4109C>G (p.Pro1370Arg) c.4091C>G (p.Pro1364Arg) c.4052C>G (p.Pro1351Arg) c.4013C>G (p.Pro1338Arg) c.3737C>G (p.Pro1246Arg) c.3698C>G (p.Pro1233Arg) c.4088C>G (p.Pro1363Arg) c.3995C>G (p.Pro1332Arg) c.3470C>G (p.Pro1157Arg) c.3785C>G (p.Pro1262Arg) n.8357C>G | dbSNP |
3 | g.9475736C>T | CA351693315 | SETD5 | n.2929C>T c.4070C>T (p.Pro1357Leu) n.4963C>T n.2354C>T n.6216C>T c.3974C>T (p.Pro1325Leu) c.*4120C>T (n.*4120C>T) c.*4043C>T (n.*4043C>T) c.*4348C>T (n.*4348C>T) c.*4079C>T (n.*4079C>T) c.3680C>T (p.Pro1227Leu) c.2722+580C>T c.4031C>T (p.Pro1344Leu) c.3010C>T n.3315C>T n.4138C>T c.4148C>T (p.Pro1383Leu) c.4127C>T (p.Pro1376Leu) c.4109C>T (p.Pro1370Leu) c.4091C>T (p.Pro1364Leu) c.4052C>T (p.Pro1351Leu) c.4013C>T (p.Pro1338Leu) c.3737C>T (p.Pro1246Leu) c.3698C>T (p.Pro1233Leu) c.4088C>T (p.Pro1363Leu) c.3995C>T (p.Pro1332Leu) c.3470C>T (p.Pro1157Leu) c.3785C>T (p.Pro1262Leu) n.8357C>T | |
3 | g.9475737A= | CA1344742768 | SETD5 | n.2930A= c.4071A= (p.Pro1357=) n.4964A= n.2355A= n.6217A= c.3975A= (p.Pro1325=) c.*4121A= (n.*4121A=) c.*4044A= (n.*4044A=) c.*4349A= (n.*4349A=) c.*4080A= (n.*4080A=) c.3681A= (p.Pro1227=) c.2722+581A= c.4032A= (p.Pro1344=) c.3011A= n.3316A= n.4139A= c.4149A= (p.Pro1383=) c.4128A= (p.Pro1376=) c.4110A= (p.Pro1370=) c.4092A= (p.Pro1364=) c.4053A= (p.Pro1351=) c.4014A= (p.Pro1338=) c.3738A= (p.Pro1246=) c.3699A= (p.Pro1233=) c.4089A= (p.Pro1363=) c.3996A= (p.Pro1332=) c.3471A= (p.Pro1157=) c.3786A= (p.Pro1262=) n.8358A= | |
3 | g.9475737A>C | CA432528414 | SETD5 | n.2930A>C c.4071A>C (p.Pro1357=) n.4964A>C n.2355A>C n.6217A>C c.3975A>C (p.Pro1325=) c.*4121A>C (n.*4121A>C) c.*4044A>C (n.*4044A>C) c.*4349A>C (n.*4349A>C) c.*4080A>C (n.*4080A>C) c.3681A>C (p.Pro1227=) c.2722+581A>C c.4032A>C (p.Pro1344=) c.3011A>C n.3316A>C n.4139A>C c.4149A>C (p.Pro1383=) c.4128A>C (p.Pro1376=) c.4110A>C (p.Pro1370=) c.4092A>C (p.Pro1364=) c.4053A>C (p.Pro1351=) c.4014A>C (p.Pro1338=) c.3738A>C (p.Pro1246=) c.3699A>C (p.Pro1233=) c.4089A>C (p.Pro1363=) c.3996A>C (p.Pro1332=) c.3471A>C (p.Pro1157=) c.3786A>C (p.Pro1262=) n.8358A>C | |
3 | g.9475737A>G | CA432528415 | SETD5 | n.2930A>G c.4071A>G (p.Pro1357=) n.4964A>G n.2355A>G n.6217A>G c.3975A>G (p.Pro1325=) c.*4121A>G (n.*4121A>G) c.*4044A>G (n.*4044A>G) c.*4349A>G (n.*4349A>G) c.*4080A>G (n.*4080A>G) c.3681A>G (p.Pro1227=) c.2722+581A>G c.4032A>G (p.Pro1344=) c.3011A>G n.3316A>G n.4139A>G c.4149A>G (p.Pro1383=) c.4128A>G (p.Pro1376=) c.4110A>G (p.Pro1370=) c.4092A>G (p.Pro1364=) c.4053A>G (p.Pro1351=) c.4014A>G (p.Pro1338=) c.3738A>G (p.Pro1246=) c.3699A>G (p.Pro1233=) c.4089A>G (p.Pro1363=) c.3996A>G (p.Pro1332=) c.3471A>G (p.Pro1157=) c.3786A>G (p.Pro1262=) n.8358A>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.9475737A>T | CA432528416 | SETD5 | n.2930A>T c.4071A>T (p.Pro1357=) n.4964A>T n.2355A>T n.6217A>T c.3975A>T (p.Pro1325=) c.*4121A>T (n.*4121A>T) c.*4044A>T (n.*4044A>T) c.*4349A>T (n.*4349A>T) c.*4080A>T (n.*4080A>T) c.3681A>T (p.Pro1227=) c.2722+581A>T c.4032A>T (p.Pro1344=) c.3011A>T n.3316A>T n.4139A>T c.4149A>T (p.Pro1383=) c.4128A>T (p.Pro1376=) c.4110A>T (p.Pro1370=) c.4092A>T (p.Pro1364=) c.4053A>T (p.Pro1351=) c.4014A>T (p.Pro1338=) c.3738A>T (p.Pro1246=) c.3699A>T (p.Pro1233=) c.4089A>T (p.Pro1363=) c.3996A>T (p.Pro1332=) c.3471A>T (p.Pro1157=) c.3786A>T (p.Pro1262=) n.8358A>T | |
3 | g.9475738C>A | CA351693321 | SETD5 | n.2931C>A c.4072C>A (p.His1358Asn) n.4965C>A n.2356C>A n.6218C>A c.3976C>A (p.His1326Asn) c.*4122C>A (n.*4122C>A) c.*4045C>A (n.*4045C>A) c.*4350C>A (n.*4350C>A) c.*4081C>A (n.*4081C>A) c.3682C>A (p.His1228Asn) c.2722+582C>A c.4033C>A (p.His1345Asn) c.3012C>A n.3317C>A n.4140C>A c.4150C>A (p.His1384Asn) c.4129C>A (p.His1377Asn) c.4111C>A (p.His1371Asn) c.4093C>A (p.His1365Asn) c.4054C>A (p.His1352Asn) c.4015C>A (p.His1339Asn) c.3739C>A (p.His1247Asn) c.3700C>A (p.His1234Asn) c.4090C>A (p.His1364Asn) c.3997C>A (p.His1333Asn) c.3472C>A (p.His1158Asn) c.3787C>A (p.His1263Asn) n.8359C>A | |
3 | g.9475738C= | CA1344742770 | SETD5 | n.2931C= c.4072C= (p.His1358=) n.4965C= n.2356C= n.6218C= c.3976C= (p.His1326=) c.*4122C= (n.*4122C=) c.*4045C= (n.*4045C=) c.*4350C= (n.*4350C=) c.*4081C= (n.*4081C=) c.3682C= (p.His1228=) c.2722+582C= c.4033C= (p.His1345=) c.3012C= n.3317C= n.4140C= c.4150C= (p.His1384=) c.4129C= (p.His1377=) c.4111C= (p.His1371=) c.4093C= (p.His1365=) c.4054C= (p.His1352=) c.4015C= (p.His1339=) c.3739C= (p.His1247=) c.3700C= (p.His1234=) c.4090C= (p.His1364=) c.3997C= (p.His1333=) c.3472C= (p.His1158=) c.3787C= (p.His1263=) n.8359C= | |
3 | g.9475738C>G | CA351693335 | SETD5 | n.2931C>G c.4072C>G (p.His1358Asp) n.4965C>G n.2356C>G n.6218C>G c.3976C>G (p.His1326Asp) c.*4122C>G (n.*4122C>G) c.*4045C>G (n.*4045C>G) c.*4350C>G (n.*4350C>G) c.*4081C>G (n.*4081C>G) c.3682C>G (p.His1228Asp) c.2722+582C>G c.4033C>G (p.His1345Asp) c.3012C>G n.3317C>G n.4140C>G c.4150C>G (p.His1384Asp) c.4129C>G (p.His1377Asp) c.4111C>G (p.His1371Asp) c.4093C>G (p.His1365Asp) c.4054C>G (p.His1352Asp) c.4015C>G (p.His1339Asp) c.3739C>G (p.His1247Asp) c.3700C>G (p.His1234Asp) c.4090C>G (p.His1364Asp) c.3997C>G (p.His1333Asp) c.3472C>G (p.His1158Asp) c.3787C>G (p.His1263Asp) n.8359C>G | |
3 | g.9475738C>T | CA69951986 | SETD5 | n.2931C>T c.4072C>T (p.His1358Tyr) n.4965C>T n.2356C>T n.6218C>T c.3976C>T (p.His1326Tyr) c.*4122C>T (n.*4122C>T) c.*4045C>T (n.*4045C>T) c.*4350C>T (n.*4350C>T) c.*4081C>T (n.*4081C>T) c.3682C>T (p.His1228Tyr) c.2722+582C>T c.4033C>T (p.His1345Tyr) c.3012C>T n.3317C>T n.4140C>T c.4150C>T (p.His1384Tyr) c.4129C>T (p.His1377Tyr) c.4111C>T (p.His1371Tyr) c.4093C>T (p.His1365Tyr) c.4054C>T (p.His1352Tyr) c.4015C>T (p.His1339Tyr) c.3739C>T (p.His1247Tyr) c.3700C>T (p.His1234Tyr) c.4090C>T (p.His1364Tyr) c.3997C>T (p.His1333Tyr) c.3472C>T (p.His1158Tyr) c.3787C>T (p.His1263Tyr) n.8359C>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.9475739A= | CA1344742776 | SETD5 | n.2932A= c.4073A= (p.His1358=) n.4966A= n.2357A= n.6219A= c.3977A= (p.His1326=) c.*4123A= (n.*4123A=) c.*4046A= (n.*4046A=) c.*4351A= (n.*4351A=) c.*4082A= (n.*4082A=) c.3683A= (p.His1228=) c.2722+583A= c.4034A= (p.His1345=) c.3013A= n.3318A= n.4141A= c.4151A= (p.His1384=) c.4130A= (p.His1377=) c.4112A= (p.His1371=) c.4094A= (p.His1365=) c.4055A= (p.His1352=) c.4016A= (p.His1339=) c.3740A= (p.His1247=) c.3701A= (p.His1234=) c.4091A= (p.His1364=) c.3998A= (p.His1333=) c.3473A= (p.His1158=) c.3788A= (p.His1263=) n.8360A= | |
3 | g.9475739A>C | CA351693356 | SETD5 | n.2932A>C c.4073A>C (p.His1358Pro) n.4966A>C n.2357A>C n.6219A>C c.3977A>C (p.His1326Pro) c.*4123A>C (n.*4123A>C) c.*4046A>C (n.*4046A>C) c.*4351A>C (n.*4351A>C) c.*4082A>C (n.*4082A>C) c.3683A>C (p.His1228Pro) c.2722+583A>C c.4034A>C (p.His1345Pro) c.3013A>C n.3318A>C n.4141A>C c.4151A>C (p.His1384Pro) c.4130A>C (p.His1377Pro) c.4112A>C (p.His1371Pro) c.4094A>C (p.His1365Pro) c.4055A>C (p.His1352Pro) c.4016A>C (p.His1339Pro) c.3740A>C (p.His1247Pro) c.3701A>C (p.His1234Pro) c.4091A>C (p.His1364Pro) c.3998A>C (p.His1333Pro) c.3473A>C (p.His1158Pro) c.3788A>C (p.His1263Pro) n.8360A>C | |
3 | g.9475739A>G | CA2239843 | SETD5 | n.2932A>G c.4073A>G (p.His1358Arg) n.4966A>G n.2357A>G n.6219A>G c.3977A>G (p.His1326Arg) c.*4123A>G (n.*4123A>G) c.*4046A>G (n.*4046A>G) c.*4351A>G (n.*4351A>G) c.*4082A>G (n.*4082A>G) c.3683A>G (p.His1228Arg) c.2722+583A>G c.4034A>G (p.His1345Arg) c.3013A>G n.3318A>G n.4141A>G c.4151A>G (p.His1384Arg) c.4130A>G (p.His1377Arg) c.4112A>G (p.His1371Arg) c.4094A>G (p.His1365Arg) c.4055A>G (p.His1352Arg) c.4016A>G (p.His1339Arg) c.3740A>G (p.His1247Arg) c.3701A>G (p.His1234Arg) c.4091A>G (p.His1364Arg) c.3998A>G (p.His1333Arg) c.3473A>G (p.His1158Arg) c.3788A>G (p.His1263Arg) n.8360A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475739A>T | CA351693378 | SETD5 | n.2932A>T c.4073A>T (p.His1358Leu) n.4966A>T n.2357A>T n.6219A>T c.3977A>T (p.His1326Leu) c.*4123A>T (n.*4123A>T) c.*4046A>T (n.*4046A>T) c.*4351A>T (n.*4351A>T) c.*4082A>T (n.*4082A>T) c.3683A>T (p.His1228Leu) c.2722+583A>T c.4034A>T (p.His1345Leu) c.3013A>T n.3318A>T n.4141A>T c.4151A>T (p.His1384Leu) c.4130A>T (p.His1377Leu) c.4112A>T (p.His1371Leu) c.4094A>T (p.His1365Leu) c.4055A>T (p.His1352Leu) c.4016A>T (p.His1339Leu) c.3740A>T (p.His1247Leu) c.3701A>T (p.His1234Leu) c.4091A>T (p.His1364Leu) c.3998A>T (p.His1333Leu) c.3473A>T (p.His1158Leu) c.3788A>T (p.His1263Leu) n.8360A>T | |
3 | g.9475740T>A | CA351693381 | SETD5 | n.2933T>A c.4074T>A (p.His1358Gln) n.4967T>A n.2358T>A n.6220T>A c.3978T>A (p.His1326Gln) c.*4124T>A (n.*4124T>A) c.*4047T>A (n.*4047T>A) c.*4352T>A (n.*4352T>A) c.*4083T>A (n.*4083T>A) c.3684T>A (p.His1228Gln) c.2722+584T>A c.4035T>A (p.His1345Gln) c.3014T>A n.3319T>A n.4142T>A c.4152T>A (p.His1384Gln) c.4131T>A (p.His1377Gln) c.4113T>A (p.His1371Gln) c.4095T>A (p.His1365Gln) c.4056T>A (p.His1352Gln) c.4017T>A (p.His1339Gln) c.3741T>A (p.His1247Gln) c.3702T>A (p.His1234Gln) c.4092T>A (p.His1364Gln) c.3999T>A (p.His1333Gln) c.3474T>A (p.His1158Gln) c.3789T>A (p.His1263Gln) n.8361T>A | |
3 | g.9475740T>C | CA432528421 | SETD5 | n.2933T>C c.4074T>C (p.His1358=) n.4967T>C n.2358T>C n.6220T>C c.3978T>C (p.His1326=) c.*4124T>C (n.*4124T>C) c.*4047T>C (n.*4047T>C) c.*4352T>C (n.*4352T>C) c.*4083T>C (n.*4083T>C) c.3684T>C (p.His1228=) c.2722+584T>C c.4035T>C (p.His1345=) c.3014T>C n.3319T>C n.4142T>C c.4152T>C (p.His1384=) c.4131T>C (p.His1377=) c.4113T>C (p.His1371=) c.4095T>C (p.His1365=) c.4056T>C (p.His1352=) c.4017T>C (p.His1339=) c.3741T>C (p.His1247=) c.3702T>C (p.His1234=) c.4092T>C (p.His1364=) c.3999T>C (p.His1333=) c.3474T>C (p.His1158=) c.3789T>C (p.His1263=) n.8361T>C | |
3 | g.9475740T>G | CA351693389 | SETD5 | n.2933T>G c.4074T>G (p.His1358Gln) n.4967T>G n.2358T>G n.6220T>G c.3978T>G (p.His1326Gln) c.*4124T>G (n.*4124T>G) c.*4047T>G (n.*4047T>G) c.*4352T>G (n.*4352T>G) c.*4083T>G (n.*4083T>G) c.3684T>G (p.His1228Gln) c.2722+584T>G c.4035T>G (p.His1345Gln) c.3014T>G n.3319T>G n.4142T>G c.4152T>G (p.His1384Gln) c.4131T>G (p.His1377Gln) c.4113T>G (p.His1371Gln) c.4095T>G (p.His1365Gln) c.4056T>G (p.His1352Gln) c.4017T>G (p.His1339Gln) c.3741T>G (p.His1247Gln) c.3702T>G (p.His1234Gln) c.4092T>G (p.His1364Gln) c.3999T>G (p.His1333Gln) c.3474T>G (p.His1158Gln) c.3789T>G (p.His1263Gln) n.8361T>G | |
3 | g.9475741T>A | CA351693396 | SETD5 | n.2934T>A c.4075T>A (p.Ser1359Thr) n.4968T>A n.2359T>A n.6221T>A c.3979T>A (p.Ser1327Thr) c.*4125T>A (n.*4125T>A) c.*4048T>A (n.*4048T>A) c.*4353T>A (n.*4353T>A) c.*4084T>A (n.*4084T>A) c.3685T>A (p.Ser1229Thr) c.2722+585T>A c.4036T>A (p.Ser1346Thr) c.3015T>A n.3320T>A n.4143T>A c.4153T>A (p.Ser1385Thr) c.4132T>A (p.Ser1378Thr) c.4114T>A (p.Ser1372Thr) c.4096T>A (p.Ser1366Thr) c.4057T>A (p.Ser1353Thr) c.4018T>A (p.Ser1340Thr) c.3742T>A (p.Ser1248Thr) c.3703T>A (p.Ser1235Thr) c.4093T>A (p.Ser1365Thr) c.4000T>A (p.Ser1334Thr) c.3475T>A (p.Ser1159Thr) c.3790T>A (p.Ser1264Thr) n.8362T>A | |
3 | g.9475741T>C | CA351693400 | SETD5 | n.2934T>C c.4075T>C (p.Ser1359Pro) n.4968T>C n.2359T>C n.6221T>C c.3979T>C (p.Ser1327Pro) c.*4125T>C (n.*4125T>C) c.*4048T>C (n.*4048T>C) c.*4353T>C (n.*4353T>C) c.*4084T>C (n.*4084T>C) c.3685T>C (p.Ser1229Pro) c.2722+585T>C c.4036T>C (p.Ser1346Pro) c.3015T>C n.3320T>C n.4143T>C c.4153T>C (p.Ser1385Pro) c.4132T>C (p.Ser1378Pro) c.4114T>C (p.Ser1372Pro) c.4096T>C (p.Ser1366Pro) c.4057T>C (p.Ser1353Pro) c.4018T>C (p.Ser1340Pro) c.3742T>C (p.Ser1248Pro) c.3703T>C (p.Ser1235Pro) c.4093T>C (p.Ser1365Pro) c.4000T>C (p.Ser1334Pro) c.3475T>C (p.Ser1159Pro) c.3790T>C (p.Ser1264Pro) n.8362T>C | |
3 | g.9475741T>G | CA351693408 | SETD5 | n.2934T>G c.4075T>G (p.Ser1359Ala) n.4968T>G n.2359T>G n.6221T>G c.3979T>G (p.Ser1327Ala) c.*4125T>G (n.*4125T>G) c.*4048T>G (n.*4048T>G) c.*4353T>G (n.*4353T>G) c.*4084T>G (n.*4084T>G) c.3685T>G (p.Ser1229Ala) c.2722+585T>G c.4036T>G (p.Ser1346Ala) c.3015T>G n.3320T>G n.4143T>G c.4153T>G (p.Ser1385Ala) c.4132T>G (p.Ser1378Ala) c.4114T>G (p.Ser1372Ala) c.4096T>G (p.Ser1366Ala) c.4057T>G (p.Ser1353Ala) c.4018T>G (p.Ser1340Ala) c.3742T>G (p.Ser1248Ala) c.3703T>G (p.Ser1235Ala) c.4093T>G (p.Ser1365Ala) c.4000T>G (p.Ser1334Ala) c.3475T>G (p.Ser1159Ala) c.3790T>G (p.Ser1264Ala) n.8362T>G | |
3 | g.9475742C>A | CA351693412 | SETD5 | n.2935C>A c.4076C>A (p.Ser1359Tyr) n.4969C>A n.2360C>A n.6222C>A c.3980C>A (p.Ser1327Tyr) c.*4126C>A (n.*4126C>A) c.*4049C>A (n.*4049C>A) c.*4354C>A (n.*4354C>A) c.*4085C>A (n.*4085C>A) c.3686C>A (p.Ser1229Tyr) c.2722+586C>A c.4037C>A (p.Ser1346Tyr) c.3016C>A n.3321C>A n.4144C>A c.4154C>A (p.Ser1385Tyr) c.4133C>A (p.Ser1378Tyr) c.4115C>A (p.Ser1372Tyr) c.4097C>A (p.Ser1366Tyr) c.4058C>A (p.Ser1353Tyr) c.4019C>A (p.Ser1340Tyr) c.3743C>A (p.Ser1248Tyr) c.3704C>A (p.Ser1235Tyr) c.4094C>A (p.Ser1365Tyr) c.4001C>A (p.Ser1334Tyr) c.3476C>A (p.Ser1159Tyr) c.3791C>A (p.Ser1264Tyr) n.8363C>A | |
3 | g.9475742C>G | CA351693415 | SETD5 | n.2935C>G c.4076C>G (p.Ser1359Cys) n.4969C>G n.2360C>G n.6222C>G c.3980C>G (p.Ser1327Cys) c.*4126C>G (n.*4126C>G) c.*4049C>G (n.*4049C>G) c.*4354C>G (n.*4354C>G) c.*4085C>G (n.*4085C>G) c.3686C>G (p.Ser1229Cys) c.2722+586C>G c.4037C>G (p.Ser1346Cys) c.3016C>G n.3321C>G n.4144C>G c.4154C>G (p.Ser1385Cys) c.4133C>G (p.Ser1378Cys) c.4115C>G (p.Ser1372Cys) c.4097C>G (p.Ser1366Cys) c.4058C>G (p.Ser1353Cys) c.4019C>G (p.Ser1340Cys) c.3743C>G (p.Ser1248Cys) c.3704C>G (p.Ser1235Cys) c.4094C>G (p.Ser1365Cys) c.4001C>G (p.Ser1334Cys) c.3476C>G (p.Ser1159Cys) c.3791C>G (p.Ser1264Cys) n.8363C>G | COSMIC COSMIC |
3 | g.9475742C>T | CA351693419 | SETD5 | n.2935C>T c.4076C>T (p.Ser1359Phe) n.4969C>T n.2360C>T n.6222C>T c.3980C>T (p.Ser1327Phe) c.*4126C>T (n.*4126C>T) c.*4049C>T (n.*4049C>T) c.*4354C>T (n.*4354C>T) c.*4085C>T (n.*4085C>T) c.3686C>T (p.Ser1229Phe) c.2722+586C>T c.4037C>T (p.Ser1346Phe) c.3016C>T n.3321C>T n.4144C>T c.4154C>T (p.Ser1385Phe) c.4133C>T (p.Ser1378Phe) c.4115C>T (p.Ser1372Phe) c.4097C>T (p.Ser1366Phe) c.4058C>T (p.Ser1353Phe) c.4019C>T (p.Ser1340Phe) c.3743C>T (p.Ser1248Phe) c.3704C>T (p.Ser1235Phe) c.4094C>T (p.Ser1365Phe) c.4001C>T (p.Ser1334Phe) c.3476C>T (p.Ser1159Phe) c.3791C>T (p.Ser1264Phe) n.8363C>T | gnomAD v4 |
3 | g.9475743T>A | CA432528429 | SETD5 | n.2936T>A c.4077T>A (p.Ser1359=) n.4970T>A n.2361T>A n.6223T>A c.3981T>A (p.Ser1327=) c.*4127T>A (n.*4127T>A) c.*4050T>A (n.*4050T>A) c.*4355T>A (n.*4355T>A) c.*4086T>A (n.*4086T>A) c.3687T>A (p.Ser1229=) c.2722+587T>A c.4038T>A (p.Ser1346=) c.3017T>A n.3322T>A n.4145T>A c.4155T>A (p.Ser1385=) c.4134T>A (p.Ser1378=) c.4116T>A (p.Ser1372=) c.4098T>A (p.Ser1366=) c.4059T>A (p.Ser1353=) c.4020T>A (p.Ser1340=) c.3744T>A (p.Ser1248=) c.3705T>A (p.Ser1235=) c.4095T>A (p.Ser1365=) c.4002T>A (p.Ser1334=) c.3477T>A (p.Ser1159=) c.3792T>A (p.Ser1264=) n.8364T>A | |
3 | g.9475743T>C | CA432528428 | SETD5 | n.2936T>C c.4077T>C (p.Ser1359=) n.4970T>C n.2361T>C n.6223T>C c.3981T>C (p.Ser1327=) c.*4127T>C (n.*4127T>C) c.*4050T>C (n.*4050T>C) c.*4355T>C (n.*4355T>C) c.*4086T>C (n.*4086T>C) c.3687T>C (p.Ser1229=) c.2722+587T>C c.4038T>C (p.Ser1346=) c.3017T>C n.3322T>C n.4145T>C c.4155T>C (p.Ser1385=) c.4134T>C (p.Ser1378=) c.4116T>C (p.Ser1372=) c.4098T>C (p.Ser1366=) c.4059T>C (p.Ser1353=) c.4020T>C (p.Ser1340=) c.3744T>C (p.Ser1248=) c.3705T>C (p.Ser1235=) c.4095T>C (p.Ser1365=) c.4002T>C (p.Ser1334=) c.3477T>C (p.Ser1159=) c.3792T>C (p.Ser1264=) n.8364T>C | COSMIC |
3 | g.9475743T>G | CA432528427 | SETD5 | n.2936T>G c.4077T>G (p.Ser1359=) n.4970T>G n.2361T>G n.6223T>G c.3981T>G (p.Ser1327=) c.*4127T>G (n.*4127T>G) c.*4050T>G (n.*4050T>G) c.*4355T>G (n.*4355T>G) c.*4086T>G (n.*4086T>G) c.3687T>G (p.Ser1229=) c.2722+587T>G c.4038T>G (p.Ser1346=) c.3017T>G n.3322T>G n.4145T>G c.4155T>G (p.Ser1385=) c.4134T>G (p.Ser1378=) c.4116T>G (p.Ser1372=) c.4098T>G (p.Ser1366=) c.4059T>G (p.Ser1353=) c.4020T>G (p.Ser1340=) c.3744T>G (p.Ser1248=) c.3705T>G (p.Ser1235=) c.4095T>G (p.Ser1365=) c.4002T>G (p.Ser1334=) c.3477T>G (p.Ser1159=) c.3792T>G (p.Ser1264=) n.8364T>G | |
3 | g.9475744G>A | CA351693425 | SETD5 | n.2937G>A c.4078G>A (p.Gly1360Arg) n.4971G>A n.2362G>A n.6224G>A c.3982G>A (p.Gly1328Arg) c.*4128G>A (n.*4128G>A) c.*4051G>A (n.*4051G>A) c.*4356G>A (n.*4356G>A) c.*4087G>A (n.*4087G>A) c.3688G>A (p.Gly1230Arg) c.2722+588G>A c.4039G>A (p.Gly1347Arg) c.3018G>A n.3323G>A n.4146G>A c.4156G>A (p.Gly1386Arg) c.4135G>A (p.Gly1379Arg) c.4117G>A (p.Gly1373Arg) c.4099G>A (p.Gly1367Arg) c.4060G>A (p.Gly1354Arg) c.4021G>A (p.Gly1341Arg) c.3745G>A (p.Gly1249Arg) c.3706G>A (p.Gly1236Arg) c.4096G>A (p.Gly1366Arg) c.4003G>A (p.Gly1335Arg) c.3478G>A (p.Gly1160Arg) c.3793G>A (p.Gly1265Arg) n.8365G>A | |
3 | g.9475744G>C | CA351693420 | SETD5 | n.2937G>C c.4078G>C (p.Gly1360Arg) n.4971G>C n.2362G>C n.6224G>C c.3982G>C (p.Gly1328Arg) c.*4128G>C (n.*4128G>C) c.*4051G>C (n.*4051G>C) c.*4356G>C (n.*4356G>C) c.*4087G>C (n.*4087G>C) c.3688G>C (p.Gly1230Arg) c.2722+588G>C c.4039G>C (p.Gly1347Arg) c.3018G>C n.3323G>C n.4146G>C c.4156G>C (p.Gly1386Arg) c.4135G>C (p.Gly1379Arg) c.4117G>C (p.Gly1373Arg) c.4099G>C (p.Gly1367Arg) c.4060G>C (p.Gly1354Arg) c.4021G>C (p.Gly1341Arg) c.3745G>C (p.Gly1249Arg) c.3706G>C (p.Gly1236Arg) c.4096G>C (p.Gly1366Arg) c.4003G>C (p.Gly1335Arg) c.3478G>C (p.Gly1160Arg) c.3793G>C (p.Gly1265Arg) n.8365G>C | dbSNP gnomAD v3 gnomAD v4 |
3 | g.9475744G= | CA1344742779 | SETD5 | n.2937G= c.4078G= (p.Gly1360=) n.4971G= n.2362G= n.6224G= c.3982G= (p.Gly1328=) c.*4128G= (n.*4128G=) c.*4051G= (n.*4051G=) c.*4356G= (n.*4356G=) c.*4087G= (n.*4087G=) c.3688G= (p.Gly1230=) c.2722+588G= c.4039G= (p.Gly1347=) c.3018G= n.3323G= n.4146G= c.4156G= (p.Gly1386=) c.4135G= (p.Gly1379=) c.4117G= (p.Gly1373=) c.4099G= (p.Gly1367=) c.4060G= (p.Gly1354=) c.4021G= (p.Gly1341=) c.3745G= (p.Gly1249=) c.3706G= (p.Gly1236=) c.4096G= (p.Gly1366=) c.4003G= (p.Gly1335=) c.3478G= (p.Gly1160=) c.3793G= (p.Gly1265=) n.8365G= | |
3 | g.9475744G>T | CA351693421 | SETD5 | n.2937G>T c.4078G>T (p.Gly1360Ter) n.4971G>T n.2362G>T n.6224G>T c.3982G>T (p.Gly1328Ter) c.*4128G>T (n.*4128G>T) c.*4051G>T (n.*4051G>T) c.*4356G>T (n.*4356G>T) c.*4087G>T (n.*4087G>T) c.3688G>T (p.Gly1230Ter) c.2722+588G>T c.4039G>T (p.Gly1347Ter) c.3018G>T n.3323G>T n.4146G>T c.4156G>T (p.Gly1386Ter) c.4135G>T (p.Gly1379Ter) c.4117G>T (p.Gly1373Ter) c.4099G>T (p.Gly1367Ter) c.4060G>T (p.Gly1354Ter) c.4021G>T (p.Gly1341Ter) c.3745G>T (p.Gly1249Ter) c.3706G>T (p.Gly1236Ter) c.4096G>T (p.Gly1366Ter) c.4003G>T (p.Gly1335Ter) c.3478G>T (p.Gly1160Ter) c.3793G>T (p.Gly1265Ter) n.8365G>T | |
3 | g.9475745G>A | CA351693433 | SETD5 | n.2938G>A c.4079G>A (p.Gly1360Glu) n.4972G>A n.2363G>A n.6225G>A c.3983G>A (p.Gly1328Glu) c.*4129G>A (n.*4129G>A) c.*4052G>A (n.*4052G>A) c.*4357G>A (n.*4357G>A) c.*4088G>A (n.*4088G>A) c.3689G>A (p.Gly1230Glu) c.2722+589G>A c.4040G>A (p.Gly1347Glu) c.3019G>A n.3324G>A n.4147G>A c.4157G>A (p.Gly1386Glu) c.4136G>A (p.Gly1379Glu) c.4118G>A (p.Gly1373Glu) c.4100G>A (p.Gly1367Glu) c.4061G>A (p.Gly1354Glu) c.4022G>A (p.Gly1341Glu) c.3746G>A (p.Gly1249Glu) c.3707G>A (p.Gly1236Glu) c.4097G>A (p.Gly1366Glu) c.4004G>A (p.Gly1335Glu) c.3479G>A (p.Gly1160Glu) c.3794G>A (p.Gly1265Glu) n.8366G>A | |
3 | g.9475745G>C | CA351693435 | SETD5 | n.2938G>C c.4079G>C (p.Gly1360Ala) n.4972G>C n.2363G>C n.6225G>C c.3983G>C (p.Gly1328Ala) c.*4129G>C (n.*4129G>C) c.*4052G>C (n.*4052G>C) c.*4357G>C (n.*4357G>C) c.*4088G>C (n.*4088G>C) c.3689G>C (p.Gly1230Ala) c.2722+589G>C c.4040G>C (p.Gly1347Ala) c.3019G>C n.3324G>C n.4147G>C c.4157G>C (p.Gly1386Ala) c.4136G>C (p.Gly1379Ala) c.4118G>C (p.Gly1373Ala) c.4100G>C (p.Gly1367Ala) c.4061G>C (p.Gly1354Ala) c.4022G>C (p.Gly1341Ala) c.3746G>C (p.Gly1249Ala) c.3707G>C (p.Gly1236Ala) c.4097G>C (p.Gly1366Ala) c.4004G>C (p.Gly1335Ala) c.3479G>C (p.Gly1160Ala) c.3794G>C (p.Gly1265Ala) n.8366G>C | |
3 | g.9475745G>T | CA351693437 | SETD5 | n.2938G>T c.4079G>T (p.Gly1360Val) n.4972G>T n.2363G>T n.6225G>T c.3983G>T (p.Gly1328Val) c.*4129G>T (n.*4129G>T) c.*4052G>T (n.*4052G>T) c.*4357G>T (n.*4357G>T) c.*4088G>T (n.*4088G>T) c.3689G>T (p.Gly1230Val) c.2722+589G>T c.4040G>T (p.Gly1347Val) c.3019G>T n.3324G>T n.4147G>T c.4157G>T (p.Gly1386Val) c.4136G>T (p.Gly1379Val) c.4118G>T (p.Gly1373Val) c.4100G>T (p.Gly1367Val) c.4061G>T (p.Gly1354Val) c.4022G>T (p.Gly1341Val) c.3746G>T (p.Gly1249Val) c.3707G>T (p.Gly1236Val) c.4097G>T (p.Gly1366Val) c.4004G>T (p.Gly1335Val) c.3479G>T (p.Gly1160Val) c.3794G>T (p.Gly1265Val) n.8366G>T | gnomAD v4 |
3 | g.9475746A>C | CA432528431 | SETD5 | n.2939A>C c.4080A>C (p.Gly1360=) n.4973A>C n.2364A>C n.6226A>C c.3984A>C (p.Gly1328=) c.*4130A>C (n.*4130A>C) c.*4053A>C (n.*4053A>C) c.*4358A>C (n.*4358A>C) c.*4089A>C (n.*4089A>C) c.3690A>C (p.Gly1230=) c.2722+590A>C c.4041A>C (p.Gly1347=) c.3020A>C n.3325A>C n.4148A>C c.4158A>C (p.Gly1386=) c.4137A>C (p.Gly1379=) c.4119A>C (p.Gly1373=) c.4101A>C (p.Gly1367=) c.4062A>C (p.Gly1354=) c.4023A>C (p.Gly1341=) c.3747A>C (p.Gly1249=) c.3708A>C (p.Gly1236=) c.4098A>C (p.Gly1366=) c.4005A>C (p.Gly1335=) c.3480A>C (p.Gly1160=) c.3795A>C (p.Gly1265=) n.8367A>C | |
3 | g.9475746A>G | CA432528432 | SETD5 | n.2939A>G c.4080A>G (p.Gly1360=) n.4973A>G n.2364A>G n.6226A>G c.3984A>G (p.Gly1328=) c.*4130A>G (n.*4130A>G) c.*4053A>G (n.*4053A>G) c.*4358A>G (n.*4358A>G) c.*4089A>G (n.*4089A>G) c.3690A>G (p.Gly1230=) c.2722+590A>G c.4041A>G (p.Gly1347=) c.3020A>G n.3325A>G n.4148A>G c.4158A>G (p.Gly1386=) c.4137A>G (p.Gly1379=) c.4119A>G (p.Gly1373=) c.4101A>G (p.Gly1367=) c.4062A>G (p.Gly1354=) c.4023A>G (p.Gly1341=) c.3747A>G (p.Gly1249=) c.3708A>G (p.Gly1236=) c.4098A>G (p.Gly1366=) c.4005A>G (p.Gly1335=) c.3480A>G (p.Gly1160=) c.3795A>G (p.Gly1265=) n.8367A>G | |
3 | g.9475746A>T | CA432528433 | SETD5 | n.2939A>T c.4080A>T (p.Gly1360=) n.4973A>T n.2364A>T n.6226A>T c.3984A>T (p.Gly1328=) c.*4130A>T (n.*4130A>T) c.*4053A>T (n.*4053A>T) c.*4358A>T (n.*4358A>T) c.*4089A>T (n.*4089A>T) c.3690A>T (p.Gly1230=) c.2722+590A>T c.4041A>T (p.Gly1347=) c.3020A>T n.3325A>T n.4148A>T c.4158A>T (p.Gly1386=) c.4137A>T (p.Gly1379=) c.4119A>T (p.Gly1373=) c.4101A>T (p.Gly1367=) c.4062A>T (p.Gly1354=) c.4023A>T (p.Gly1341=) c.3747A>T (p.Gly1249=) c.3708A>T (p.Gly1236=) c.4098A>T (p.Gly1366=) c.4005A>T (p.Gly1335=) c.3480A>T (p.Gly1160=) c.3795A>T (p.Gly1265=) n.8367A>T | |
3 | g.9475748del | CA432528435 | SETD5 | n.2941del c.4082del (p.Asn1361ThrfsTer?) n.4975del n.2366del n.6228del c.3986del (p.Asn1329ThrfsTer?) c.*4132del (n.*4132del) c.*4055del (n.*4055del) c.*4360del (n.*4360del) c.*4091del (n.*4091del) c.3692del (p.Asn1231ThrfsTer?) c.2722+592del c.4043del (p.Asn1348ThrfsTer?) c.3022del n.3327del n.4150del c.4160del (p.Asn1387ThrfsTer?) c.4139del (p.Asn1380ThrfsTer?) c.4121del (p.Asn1374ThrfsTer?) c.4103del (p.Asn1368ThrfsTer?) c.4064del (p.Asn1355ThrfsTer?) c.4025del (p.Asn1342ThrfsTer?) c.3749del (p.Asn1250ThrfsTer?) c.3710del (p.Asn1237ThrfsTer?) c.4100del (p.Asn1367ThrfsTer?) c.4007del (p.Asn1336ThrfsTer?) c.3482del (p.Asn1161ThrfsTer?) c.3797del (p.Asn1266ThrfsTer?) n.8369del | COSMIC COSMIC |
3 | g.9475747A>C | CA351693442 | SETD5 | n.2940A>C c.4081A>C (p.Asn1361His) n.4974A>C n.2365A>C n.6227A>C c.3985A>C (p.Asn1329His) c.*4131A>C (n.*4131A>C) c.*4054A>C (n.*4054A>C) c.*4359A>C (n.*4359A>C) c.*4090A>C (n.*4090A>C) c.3691A>C (p.Asn1231His) c.2722+591A>C c.4042A>C (p.Asn1348His) c.3021A>C n.3326A>C n.4149A>C c.4159A>C (p.Asn1387His) c.4138A>C (p.Asn1380His) c.4120A>C (p.Asn1374His) c.4102A>C (p.Asn1368His) c.4063A>C (p.Asn1355His) c.4024A>C (p.Asn1342His) c.3748A>C (p.Asn1250His) c.3709A>C (p.Asn1237His) c.4099A>C (p.Asn1367His) c.4006A>C (p.Asn1336His) c.3481A>C (p.Asn1161His) c.3796A>C (p.Asn1266His) n.8368A>C | |
3 | g.9475747A>G | CA351693446 | SETD5 | n.2940A>G c.4081A>G (p.Asn1361Asp) n.4974A>G n.2365A>G n.6227A>G c.3985A>G (p.Asn1329Asp) c.*4131A>G (n.*4131A>G) c.*4054A>G (n.*4054A>G) c.*4359A>G (n.*4359A>G) c.*4090A>G (n.*4090A>G) c.3691A>G (p.Asn1231Asp) c.2722+591A>G c.4042A>G (p.Asn1348Asp) c.3021A>G n.3326A>G n.4149A>G c.4159A>G (p.Asn1387Asp) c.4138A>G (p.Asn1380Asp) c.4120A>G (p.Asn1374Asp) c.4102A>G (p.Asn1368Asp) c.4063A>G (p.Asn1355Asp) c.4024A>G (p.Asn1342Asp) c.3748A>G (p.Asn1250Asp) c.3709A>G (p.Asn1237Asp) c.4099A>G (p.Asn1367Asp) c.4006A>G (p.Asn1336Asp) c.3481A>G (p.Asn1161Asp) c.3796A>G (p.Asn1266Asp) n.8368A>G | |
3 | g.9475747A>T | CA351693450 | SETD5 | n.2940A>T c.4081A>T (p.Asn1361Tyr) n.4974A>T n.2365A>T n.6227A>T c.3985A>T (p.Asn1329Tyr) c.*4131A>T (n.*4131A>T) c.*4054A>T (n.*4054A>T) c.*4359A>T (n.*4359A>T) c.*4090A>T (n.*4090A>T) c.3691A>T (p.Asn1231Tyr) c.2722+591A>T c.4042A>T (p.Asn1348Tyr) c.3021A>T n.3326A>T n.4149A>T c.4159A>T (p.Asn1387Tyr) c.4138A>T (p.Asn1380Tyr) c.4120A>T (p.Asn1374Tyr) c.4102A>T (p.Asn1368Tyr) c.4063A>T (p.Asn1355Tyr) c.4024A>T (p.Asn1342Tyr) c.3748A>T (p.Asn1250Tyr) c.3709A>T (p.Asn1237Tyr) c.4099A>T (p.Asn1367Tyr) c.4006A>T (p.Asn1336Tyr) c.3481A>T (p.Asn1161Tyr) c.3796A>T (p.Asn1266Tyr) n.8368A>T | |
3 | g.9475748A= | CA1344742781 | SETD5 | n.2941A= c.4082A= (p.Asn1361=) n.4975A= n.2366A= n.6228A= c.3986A= (p.Asn1329=) c.*4132A= (n.*4132A=) c.*4055A= (n.*4055A=) c.*4360A= (n.*4360A=) c.*4091A= (n.*4091A=) c.3692A= (p.Asn1231=) c.2722+592A= c.4043A= (p.Asn1348=) c.3022A= n.3327A= n.4150A= c.4160A= (p.Asn1387=) c.4139A= (p.Asn1380=) c.4121A= (p.Asn1374=) c.4103A= (p.Asn1368=) c.4064A= (p.Asn1355=) c.4025A= (p.Asn1342=) c.3749A= (p.Asn1250=) c.3710A= (p.Asn1237=) c.4100A= (p.Asn1367=) c.4007A= (p.Asn1336=) c.3482A= (p.Asn1161=) c.3797A= (p.Asn1266=) n.8369A= | |
3 | g.9475748A>C | CA351693454 | SETD5 | n.2941A>C c.4082A>C (p.Asn1361Thr) n.4975A>C n.2366A>C n.6228A>C c.3986A>C (p.Asn1329Thr) c.*4132A>C (n.*4132A>C) c.*4055A>C (n.*4055A>C) c.*4360A>C (n.*4360A>C) c.*4091A>C (n.*4091A>C) c.3692A>C (p.Asn1231Thr) c.2722+592A>C c.4043A>C (p.Asn1348Thr) c.3022A>C n.3327A>C n.4150A>C c.4160A>C (p.Asn1387Thr) c.4139A>C (p.Asn1380Thr) c.4121A>C (p.Asn1374Thr) c.4103A>C (p.Asn1368Thr) c.4064A>C (p.Asn1355Thr) c.4025A>C (p.Asn1342Thr) c.3749A>C (p.Asn1250Thr) c.3710A>C (p.Asn1237Thr) c.4100A>C (p.Asn1367Thr) c.4007A>C (p.Asn1336Thr) c.3482A>C (p.Asn1161Thr) c.3797A>C (p.Asn1266Thr) n.8369A>C | |
3 | g.9475748A>G | CA69951990 | SETD5 | n.2941A>G c.4082A>G (p.Asn1361Ser) n.4975A>G n.2366A>G n.6228A>G c.3986A>G (p.Asn1329Ser) c.*4132A>G (n.*4132A>G) c.*4055A>G (n.*4055A>G) c.*4360A>G (n.*4360A>G) c.*4091A>G (n.*4091A>G) c.3692A>G (p.Asn1231Ser) c.2722+592A>G c.4043A>G (p.Asn1348Ser) c.3022A>G n.3327A>G n.4150A>G c.4160A>G (p.Asn1387Ser) c.4139A>G (p.Asn1380Ser) c.4121A>G (p.Asn1374Ser) c.4103A>G (p.Asn1368Ser) c.4064A>G (p.Asn1355Ser) c.4025A>G (p.Asn1342Ser) c.3749A>G (p.Asn1250Ser) c.3710A>G (p.Asn1237Ser) c.4100A>G (p.Asn1367Ser) c.4007A>G (p.Asn1336Ser) c.3482A>G (p.Asn1161Ser) c.3797A>G (p.Asn1266Ser) n.8369A>G | ClinVar dbSNP gnomAD v4 |
3 | g.9475748A>T | CA351693461 | SETD5 | n.2941A>T c.4082A>T (p.Asn1361Ile) n.4975A>T n.2366A>T n.6228A>T c.3986A>T (p.Asn1329Ile) c.*4132A>T (n.*4132A>T) c.*4055A>T (n.*4055A>T) c.*4360A>T (n.*4360A>T) c.*4091A>T (n.*4091A>T) c.3692A>T (p.Asn1231Ile) c.2722+592A>T c.4043A>T (p.Asn1348Ile) c.3022A>T n.3327A>T n.4150A>T c.4160A>T (p.Asn1387Ile) c.4139A>T (p.Asn1380Ile) c.4121A>T (p.Asn1374Ile) c.4103A>T (p.Asn1368Ile) c.4064A>T (p.Asn1355Ile) c.4025A>T (p.Asn1342Ile) c.3749A>T (p.Asn1250Ile) c.3710A>T (p.Asn1237Ile) c.4100A>T (p.Asn1367Ile) c.4007A>T (p.Asn1336Ile) c.3482A>T (p.Asn1161Ile) c.3797A>T (p.Asn1266Ile) n.8369A>T | |
3 | g.9475749C>A | CA351693462 | SETD5 | n.2942C>A c.4083C>A (p.Asn1361Lys) n.4976C>A n.2367C>A n.6229C>A c.3987C>A (p.Asn1329Lys) c.*4133C>A (n.*4133C>A) c.*4056C>A (n.*4056C>A) c.*4361C>A (n.*4361C>A) c.*4092C>A (n.*4092C>A) c.3693C>A (p.Asn1231Lys) c.2722+593C>A c.4044C>A (p.Asn1348Lys) c.3023C>A n.3328C>A n.4151C>A c.4161C>A (p.Asn1387Lys) c.4140C>A (p.Asn1380Lys) c.4122C>A (p.Asn1374Lys) c.4104C>A (p.Asn1368Lys) c.4065C>A (p.Asn1355Lys) c.4026C>A (p.Asn1342Lys) c.3750C>A (p.Asn1250Lys) c.3711C>A (p.Asn1237Lys) c.4101C>A (p.Asn1367Lys) c.4008C>A (p.Asn1336Lys) c.3483C>A (p.Asn1161Lys) c.3798C>A (p.Asn1266Lys) n.8370C>A | |
3 | g.9475749C= | CA1344742784 | SETD5 | n.2942C= c.4083C= (p.Asn1361=) n.4976C= n.2367C= n.6229C= c.3987C= (p.Asn1329=) c.*4133C= (n.*4133C=) c.*4056C= (n.*4056C=) c.*4361C= (n.*4361C=) c.*4092C= (n.*4092C=) c.3693C= (p.Asn1231=) c.2722+593C= c.4044C= (p.Asn1348=) c.3023C= n.3328C= n.4151C= c.4161C= (p.Asn1387=) c.4140C= (p.Asn1380=) c.4122C= (p.Asn1374=) c.4104C= (p.Asn1368=) c.4065C= (p.Asn1355=) c.4026C= (p.Asn1342=) c.3750C= (p.Asn1250=) c.3711C= (p.Asn1237=) c.4101C= (p.Asn1367=) c.4008C= (p.Asn1336=) c.3483C= (p.Asn1161=) c.3798C= (p.Asn1266=) n.8370C= | |
3 | g.9475749C>G | CA351693464 | SETD5 | n.2942C>G c.4083C>G (p.Asn1361Lys) n.4976C>G n.2367C>G n.6229C>G c.3987C>G (p.Asn1329Lys) c.*4133C>G (n.*4133C>G) c.*4056C>G (n.*4056C>G) c.*4361C>G (n.*4361C>G) c.*4092C>G (n.*4092C>G) c.3693C>G (p.Asn1231Lys) c.2722+593C>G c.4044C>G (p.Asn1348Lys) c.3023C>G n.3328C>G n.4151C>G c.4161C>G (p.Asn1387Lys) c.4140C>G (p.Asn1380Lys) c.4122C>G (p.Asn1374Lys) c.4104C>G (p.Asn1368Lys) c.4065C>G (p.Asn1355Lys) c.4026C>G (p.Asn1342Lys) c.3750C>G (p.Asn1250Lys) c.3711C>G (p.Asn1237Lys) c.4101C>G (p.Asn1367Lys) c.4008C>G (p.Asn1336Lys) c.3483C>G (p.Asn1161Lys) c.3798C>G (p.Asn1266Lys) n.8370C>G | dbSNP gnomAD v4 |
3 | g.9475749C>T | CA432528441 | SETD5 | n.2942C>T c.4083C>T (p.Asn1361=) n.4976C>T n.2367C>T n.6229C>T c.3987C>T (p.Asn1329=) c.*4133C>T (n.*4133C>T) c.*4056C>T (n.*4056C>T) c.*4361C>T (n.*4361C>T) c.*4092C>T (n.*4092C>T) c.3693C>T (p.Asn1231=) c.2722+593C>T c.4044C>T (p.Asn1348=) c.3023C>T n.3328C>T n.4151C>T c.4161C>T (p.Asn1387=) c.4140C>T (p.Asn1380=) c.4122C>T (p.Asn1374=) c.4104C>T (p.Asn1368=) c.4065C>T (p.Asn1355=) c.4026C>T (p.Asn1342=) c.3750C>T (p.Asn1250=) c.3711C>T (p.Asn1237=) c.4101C>T (p.Asn1367=) c.4008C>T (p.Asn1336=) c.3483C>T (p.Asn1161=) c.3798C>T (p.Asn1266=) n.8370C>T | dbSNP gnomAD v4 |
3 | g.9475750A= | CA1344742787 | SETD5 | n.2943A= c.4084A= (p.Ser1362=) n.4977A= n.2368A= n.6230A= c.3988A= (p.Ser1330=) c.*4134A= (n.*4134A=) c.*4057A= (n.*4057A=) c.*4362A= (n.*4362A=) c.*4093A= (n.*4093A=) c.3694A= (p.Ser1232=) c.2722+594A= c.4045A= (p.Ser1349=) c.3024A= n.3329A= n.4152A= c.4162A= (p.Ser1388=) c.4141A= (p.Ser1381=) c.4123A= (p.Ser1375=) c.4105A= (p.Ser1369=) c.4066A= (p.Ser1356=) c.4027A= (p.Ser1343=) c.3751A= (p.Ser1251=) c.3712A= (p.Ser1238=) c.4102A= (p.Ser1368=) c.4009A= (p.Ser1337=) c.3484A= (p.Ser1162=) c.3799A= (p.Ser1267=) n.8371A= | |
3 | g.9475750A>C | CA351693476 | SETD5 | n.2943A>C c.4084A>C (p.Ser1362Arg) n.4977A>C n.2368A>C n.6230A>C c.3988A>C (p.Ser1330Arg) c.*4134A>C (n.*4134A>C) c.*4057A>C (n.*4057A>C) c.*4362A>C (n.*4362A>C) c.*4093A>C (n.*4093A>C) c.3694A>C (p.Ser1232Arg) c.2722+594A>C c.4045A>C (p.Ser1349Arg) c.3024A>C n.3329A>C n.4152A>C c.4162A>C (p.Ser1388Arg) c.4141A>C (p.Ser1381Arg) c.4123A>C (p.Ser1375Arg) c.4105A>C (p.Ser1369Arg) c.4066A>C (p.Ser1356Arg) c.4027A>C (p.Ser1343Arg) c.3751A>C (p.Ser1251Arg) c.3712A>C (p.Ser1238Arg) c.4102A>C (p.Ser1368Arg) c.4009A>C (p.Ser1337Arg) c.3484A>C (p.Ser1162Arg) c.3799A>C (p.Ser1267Arg) n.8371A>C | |
3 | g.9475750A>G | CA2239844 | SETD5 | n.2943A>G c.4084A>G (p.Ser1362Gly) n.4977A>G n.2368A>G n.6230A>G c.3988A>G (p.Ser1330Gly) c.*4134A>G (n.*4134A>G) c.*4057A>G (n.*4057A>G) c.*4362A>G (n.*4362A>G) c.*4093A>G (n.*4093A>G) c.3694A>G (p.Ser1232Gly) c.2722+594A>G c.4045A>G (p.Ser1349Gly) c.3024A>G n.3329A>G n.4152A>G c.4162A>G (p.Ser1388Gly) c.4141A>G (p.Ser1381Gly) c.4123A>G (p.Ser1375Gly) c.4105A>G (p.Ser1369Gly) c.4066A>G (p.Ser1356Gly) c.4027A>G (p.Ser1343Gly) c.3751A>G (p.Ser1251Gly) c.3712A>G (p.Ser1238Gly) c.4102A>G (p.Ser1368Gly) c.4009A>G (p.Ser1337Gly) c.3484A>G (p.Ser1162Gly) c.3799A>G (p.Ser1267Gly) n.8371A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.9475750A>T | CA351693472 | SETD5 | n.2943A>T c.4084A>T (p.Ser1362Cys) n.4977A>T n.2368A>T n.6230A>T c.3988A>T (p.Ser1330Cys) c.*4134A>T (n.*4134A>T) c.*4057A>T (n.*4057A>T) c.*4362A>T (n.*4362A>T) c.*4093A>T (n.*4093A>T) c.3694A>T (p.Ser1232Cys) c.2722+594A>T c.4045A>T (p.Ser1349Cys) c.3024A>T n.3329A>T n.4152A>T c.4162A>T (p.Ser1388Cys) c.4141A>T (p.Ser1381Cys) c.4123A>T (p.Ser1375Cys) c.4105A>T (p.Ser1369Cys) c.4066A>T (p.Ser1356Cys) c.4027A>T (p.Ser1343Cys) c.3751A>T (p.Ser1251Cys) c.3712A>T (p.Ser1238Cys) c.4102A>T (p.Ser1368Cys) c.4009A>T (p.Ser1337Cys) c.3484A>T (p.Ser1162Cys) c.3799A>T (p.Ser1267Cys) n.8371A>T | |
3 | g.9475751G>A | CA351693485 | SETD5 | n.2944G>A c.4085G>A (p.Ser1362Asn) n.4978G>A n.2369G>A n.6231G>A c.3989G>A (p.Ser1330Asn) c.*4135G>A (n.*4135G>A) c.*4058G>A (n.*4058G>A) c.*4363G>A (n.*4363G>A) c.*4094G>A (n.*4094G>A) c.3695G>A (p.Ser1232Asn) c.2722+595G>A c.4046G>A (p.Ser1349Asn) c.3025G>A n.3330G>A n.4153G>A c.4163G>A (p.Ser1388Asn) c.4142G>A (p.Ser1381Asn) c.4124G>A (p.Ser1375Asn) c.4106G>A (p.Ser1369Asn) c.4067G>A (p.Ser1356Asn) c.4028G>A (p.Ser1343Asn) c.3752G>A (p.Ser1251Asn) c.3713G>A (p.Ser1238Asn) c.4103G>A (p.Ser1368Asn) c.4010G>A (p.Ser1337Asn) c.3485G>A (p.Ser1162Asn) c.3800G>A (p.Ser1267Asn) n.8372G>A | gnomAD v4 |
3 | g.9475751G>C | CA351693488 | SETD5 | n.2944G>C c.4085G>C (p.Ser1362Thr) n.4978G>C n.2369G>C n.6231G>C c.3989G>C (p.Ser1330Thr) c.*4135G>C (n.*4135G>C) c.*4058G>C (n.*4058G>C) c.*4363G>C (n.*4363G>C) c.*4094G>C (n.*4094G>C) c.3695G>C (p.Ser1232Thr) c.2722+595G>C c.4046G>C (p.Ser1349Thr) c.3025G>C n.3330G>C n.4153G>C c.4163G>C (p.Ser1388Thr) c.4142G>C (p.Ser1381Thr) c.4124G>C (p.Ser1375Thr) c.4106G>C (p.Ser1369Thr) c.4067G>C (p.Ser1356Thr) c.4028G>C (p.Ser1343Thr) c.3752G>C (p.Ser1251Thr) c.3713G>C (p.Ser1238Thr) c.4103G>C (p.Ser1368Thr) c.4010G>C (p.Ser1337Thr) c.3485G>C (p.Ser1162Thr) c.3800G>C (p.Ser1267Thr) n.8372G>C | |
3 | g.9475751G>T | CA351693492 | SETD5 | n.2944G>T c.4085G>T (p.Ser1362Ile) n.4978G>T n.2369G>T n.6231G>T c.3989G>T (p.Ser1330Ile) c.*4135G>T (n.*4135G>T) c.*4058G>T (n.*4058G>T) c.*4363G>T (n.*4363G>T) c.*4094G>T (n.*4094G>T) c.3695G>T (p.Ser1232Ile) c.2722+595G>T c.4046G>T (p.Ser1349Ile) c.3025G>T n.3330G>T n.4153G>T c.4163G>T (p.Ser1388Ile) c.4142G>T (p.Ser1381Ile) c.4124G>T (p.Ser1375Ile) c.4106G>T (p.Ser1369Ile) c.4067G>T (p.Ser1356Ile) c.4028G>T (p.Ser1343Ile) c.3752G>T (p.Ser1251Ile) c.3713G>T (p.Ser1238Ile) c.4103G>T (p.Ser1368Ile) c.4010G>T (p.Ser1337Ile) c.3485G>T (p.Ser1162Ile) c.3800G>T (p.Ser1267Ile) n.8372G>T | |
3 | g.9475752C>A | CA351693496 | SETD5 | n.2945C>A c.4086C>A (p.Ser1362Arg) n.4979C>A n.2370C>A n.6232C>A c.3990C>A (p.Ser1330Arg) c.*4136C>A (n.*4136C>A) c.*4059C>A (n.*4059C>A) c.*4364C>A (n.*4364C>A) c.*4095C>A (n.*4095C>A) c.3696C>A (p.Ser1232Arg) c.2722+596C>A c.4047C>A (p.Ser1349Arg) c.3026C>A n.3331C>A n.4154C>A c.4164C>A (p.Ser1388Arg) c.4143C>A (p.Ser1381Arg) c.4125C>A (p.Ser1375Arg) c.4107C>A (p.Ser1369Arg) c.4068C>A (p.Ser1356Arg) c.4029C>A (p.Ser1343Arg) c.3753C>A (p.Ser1251Arg) c.3714C>A (p.Ser1238Arg) c.4104C>A (p.Ser1368Arg) c.4011C>A (p.Ser1337Arg) c.3486C>A (p.Ser1162Arg) c.3801C>A (p.Ser1267Arg) n.8373C>A | |
3 | g.9475752C>G | CA351693498 | SETD5 | n.2945C>G c.4086C>G (p.Ser1362Arg) n.4979C>G n.2370C>G n.6232C>G c.3990C>G (p.Ser1330Arg) c.*4136C>G (n.*4136C>G) c.*4059C>G (n.*4059C>G) c.*4364C>G (n.*4364C>G) c.*4095C>G (n.*4095C>G) c.3696C>G (p.Ser1232Arg) c.2722+596C>G c.4047C>G (p.Ser1349Arg) c.3026C>G n.3331C>G n.4154C>G c.4164C>G (p.Ser1388Arg) c.4143C>G (p.Ser1381Arg) c.4125C>G (p.Ser1375Arg) c.4107C>G (p.Ser1369Arg) c.4068C>G (p.Ser1356Arg) c.4029C>G (p.Ser1343Arg) c.3753C>G (p.Ser1251Arg) c.3714C>G (p.Ser1238Arg) c.4104C>G (p.Ser1368Arg) c.4011C>G (p.Ser1337Arg) c.3486C>G (p.Ser1162Arg) c.3801C>G (p.Ser1267Arg) n.8373C>G | |
3 | g.9475752C>T | CA432528452 | SETD5 | n.2945C>T c.4086C>T (p.Ser1362=) n.4979C>T n.2370C>T n.6232C>T c.3990C>T (p.Ser1330=) c.*4136C>T (n.*4136C>T) c.*4059C>T (n.*4059C>T) c.*4364C>T (n.*4364C>T) c.*4095C>T (n.*4095C>T) c.3696C>T (p.Ser1232=) c.2722+596C>T c.4047C>T (p.Ser1349=) c.3026C>T n.3331C>T n.4154C>T c.4164C>T (p.Ser1388=) c.4143C>T (p.Ser1381=) c.4125C>T (p.Ser1375=) c.4107C>T (p.Ser1369=) c.4068C>T (p.Ser1356=) c.4029C>T (p.Ser1343=) c.3753C>T (p.Ser1251=) c.3714C>T (p.Ser1238=) c.4104C>T (p.Ser1368=) c.4011C>T (p.Ser1337=) c.3486C>T (p.Ser1162=) c.3801C>T (p.Ser1267=) n.8373C>T | |
3 | g.9475753A>C | CA351693511 | SETD5 | n.2946A>C c.4087A>C (p.Thr1363Pro) n.4980A>C n.2371A>C n.6233A>C c.3991A>C (p.Thr1331Pro) c.*4137A>C (n.*4137A>C) c.*4060A>C (n.*4060A>C) c.*4365A>C (n.*4365A>C) c.*4096A>C (n.*4096A>C) c.3697A>C (p.Thr1233Pro) c.2722+597A>C c.4048A>C (p.Thr1350Pro) c.3027A>C n.3332A>C n.4155A>C c.4165A>C (p.Thr1389Pro) c.4144A>C (p.Thr1382Pro) c.4126A>C (p.Thr1376Pro) c.4108A>C (p.Thr1370Pro) c.4069A>C (p.Thr1357Pro) c.4030A>C (p.Thr1344Pro) c.3754A>C (p.Thr1252Pro) c.3715A>C (p.Thr1239Pro) c.4105A>C (p.Thr1369Pro) c.4012A>C (p.Thr1338Pro) c.3487A>C (p.Thr1163Pro) c.3802A>C (p.Thr1268Pro) n.8374A>C | |
3 | g.9475753A>G | CA351693508 | SETD5 | n.2946A>G c.4087A>G (p.Thr1363Ala) n.4980A>G n.2371A>G n.6233A>G c.3991A>G (p.Thr1331Ala) c.*4137A>G (n.*4137A>G) c.*4060A>G (n.*4060A>G) c.*4365A>G (n.*4365A>G) c.*4096A>G (n.*4096A>G) c.3697A>G (p.Thr1233Ala) c.2722+597A>G c.4048A>G (p.Thr1350Ala) c.3027A>G n.3332A>G n.4155A>G c.4165A>G (p.Thr1389Ala) c.4144A>G (p.Thr1382Ala) c.4126A>G (p.Thr1376Ala) c.4108A>G (p.Thr1370Ala) c.4069A>G (p.Thr1357Ala) c.4030A>G (p.Thr1344Ala) c.3754A>G (p.Thr1252Ala) c.3715A>G (p.Thr1239Ala) c.4105A>G (p.Thr1369Ala) c.4012A>G (p.Thr1338Ala) c.3487A>G (p.Thr1163Ala) c.3802A>G (p.Thr1268Ala) n.8374A>G | |
3 | g.9475753A>T | CA351693504 | SETD5 | n.2946A>T c.4087A>T (p.Thr1363Ser) n.4980A>T n.2371A>T n.6233A>T c.3991A>T (p.Thr1331Ser) c.*4137A>T (n.*4137A>T) c.*4060A>T (n.*4060A>T) c.*4365A>T (n.*4365A>T) c.*4096A>T (n.*4096A>T) c.3697A>T (p.Thr1233Ser) c.2722+597A>T c.4048A>T (p.Thr1350Ser) c.3027A>T n.3332A>T n.4155A>T c.4165A>T (p.Thr1389Ser) c.4144A>T (p.Thr1382Ser) c.4126A>T (p.Thr1376Ser) c.4108A>T (p.Thr1370Ser) c.4069A>T (p.Thr1357Ser) c.4030A>T (p.Thr1344Ser) c.3754A>T (p.Thr1252Ser) c.3715A>T (p.Thr1239Ser) c.4105A>T (p.Thr1369Ser) c.4012A>T (p.Thr1338Ser) c.3487A>T (p.Thr1163Ser) c.3802A>T (p.Thr1268Ser) n.8374A>T | |
3 | g.9475754C>A | CA351693517 | SETD5 | n.2947C>A c.4088C>A (p.Thr1363Asn) n.4981C>A n.2372C>A n.6234C>A c.3992C>A (p.Thr1331Asn) c.*4138C>A (n.*4138C>A) c.*4061C>A (n.*4061C>A) c.*4366C>A (n.*4366C>A) c.*4097C>A (n.*4097C>A) c.3698C>A (p.Thr1233Asn) c.2722+598C>A c.4049C>A (p.Thr1350Asn) c.3028C>A n.3333C>A n.4156C>A c.4166C>A (p.Thr1389Asn) c.4145C>A (p.Thr1382Asn) c.4127C>A (p.Thr1376Asn) c.4109C>A (p.Thr1370Asn) c.4070C>A (p.Thr1357Asn) c.4031C>A (p.Thr1344Asn) c.3755C>A (p.Thr1252Asn) c.3716C>A (p.Thr1239Asn) c.4106C>A (p.Thr1369Asn) c.4013C>A (p.Thr1338Asn) c.3488C>A (p.Thr1163Asn) c.3803C>A (p.Thr1268Asn) n.8375C>A | |
3 | g.9475754C= | CA1344742788 | SETD5 | n.2947C= c.4088C= (p.Thr1363=) n.4981C= n.2372C= n.6234C= c.3992C= (p.Thr1331=) c.*4138C= (n.*4138C=) c.*4061C= (n.*4061C=) c.*4366C= (n.*4366C=) c.*4097C= (n.*4097C=) c.3698C= (p.Thr1233=) c.2722+598C= c.4049C= (p.Thr1350=) c.3028C= n.3333C= n.4156C= c.4166C= (p.Thr1389=) c.4145C= (p.Thr1382=) c.4127C= (p.Thr1376=) c.4109C= (p.Thr1370=) c.4070C= (p.Thr1357=) c.4031C= (p.Thr1344=) c.3755C= (p.Thr1252=) c.3716C= (p.Thr1239=) c.4106C= (p.Thr1369=) c.4013C= (p.Thr1338=) c.3488C= (p.Thr1163=) c.3803C= (p.Thr1268=) n.8375C= | |
3 | g.9475754C>G | CA351693520 | SETD5 | n.2947C>G c.4088C>G (p.Thr1363Ser) n.4981C>G n.2372C>G n.6234C>G c.3992C>G (p.Thr1331Ser) c.*4138C>G (n.*4138C>G) c.*4061C>G (n.*4061C>G) c.*4366C>G (n.*4366C>G) c.*4097C>G (n.*4097C>G) c.3698C>G (p.Thr1233Ser) c.2722+598C>G c.4049C>G (p.Thr1350Ser) c.3028C>G n.3333C>G n.4156C>G c.4166C>G (p.Thr1389Ser) c.4145C>G (p.Thr1382Ser) c.4127C>G (p.Thr1376Ser) c.4109C>G (p.Thr1370Ser) c.4070C>G (p.Thr1357Ser) c.4031C>G (p.Thr1344Ser) c.3755C>G (p.Thr1252Ser) c.3716C>G (p.Thr1239Ser) c.4106C>G (p.Thr1369Ser) c.4013C>G (p.Thr1338Ser) c.3488C>G (p.Thr1163Ser) c.3803C>G (p.Thr1268Ser) n.8375C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475754C>T | CA2239845 | SETD5 | n.2947C>T c.4088C>T (p.Thr1363Ile) n.4981C>T n.2372C>T n.6234C>T c.3992C>T (p.Thr1331Ile) c.*4138C>T (n.*4138C>T) c.*4061C>T (n.*4061C>T) c.*4366C>T (n.*4366C>T) c.*4097C>T (n.*4097C>T) c.3698C>T (p.Thr1233Ile) c.2722+598C>T c.4049C>T (p.Thr1350Ile) c.3028C>T n.3333C>T n.4156C>T c.4166C>T (p.Thr1389Ile) c.4145C>T (p.Thr1382Ile) c.4127C>T (p.Thr1376Ile) c.4109C>T (p.Thr1370Ile) c.4070C>T (p.Thr1357Ile) c.4031C>T (p.Thr1344Ile) c.3755C>T (p.Thr1252Ile) c.3716C>T (p.Thr1239Ile) c.4106C>T (p.Thr1369Ile) c.4013C>T (p.Thr1338Ile) c.3488C>T (p.Thr1163Ile) c.3803C>T (p.Thr1268Ile) n.8375C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.9475755T>A | CA432528456 | SETD5 | n.2948T>A c.4089T>A (p.Thr1363=) n.4982T>A n.2373T>A n.6235T>A c.3993T>A (p.Thr1331=) c.*4139T>A (n.*4139T>A) c.*4062T>A (n.*4062T>A) c.*4367T>A (n.*4367T>A) c.*4098T>A (n.*4098T>A) c.3699T>A (p.Thr1233=) c.2722+599T>A c.4050T>A (p.Thr1350=) c.3029T>A n.3334T>A n.4157T>A c.4167T>A (p.Thr1389=) c.4146T>A (p.Thr1382=) c.4128T>A (p.Thr1376=) c.4110T>A (p.Thr1370=) c.4071T>A (p.Thr1357=) c.4032T>A (p.Thr1344=) c.3756T>A (p.Thr1252=) c.3717T>A (p.Thr1239=) c.4107T>A (p.Thr1369=) c.4014T>A (p.Thr1338=) c.3489T>A (p.Thr1163=) c.3804T>A (p.Thr1268=) n.8376T>A | |
3 | g.9475755T>C | CA432528457 | SETD5 | n.2948T>C c.4089T>C (p.Thr1363=) n.4982T>C n.2373T>C n.6235T>C c.3993T>C (p.Thr1331=) c.*4139T>C (n.*4139T>C) c.*4062T>C (n.*4062T>C) c.*4367T>C (n.*4367T>C) c.*4098T>C (n.*4098T>C) c.3699T>C (p.Thr1233=) c.2722+599T>C c.4050T>C (p.Thr1350=) c.3029T>C n.3334T>C n.4157T>C c.4167T>C (p.Thr1389=) c.4146T>C (p.Thr1382=) c.4128T>C (p.Thr1376=) c.4110T>C (p.Thr1370=) c.4071T>C (p.Thr1357=) c.4032T>C (p.Thr1344=) c.3756T>C (p.Thr1252=) c.3717T>C (p.Thr1239=) c.4107T>C (p.Thr1369=) c.4014T>C (p.Thr1338=) c.3489T>C (p.Thr1163=) c.3804T>C (p.Thr1268=) n.8376T>C | |
3 | g.9475755T>G | CA432528458 | SETD5 | n.2948T>G c.4089T>G (p.Thr1363=) n.4982T>G n.2373T>G n.6235T>G c.3993T>G (p.Thr1331=) c.*4139T>G (n.*4139T>G) c.*4062T>G (n.*4062T>G) c.*4367T>G (n.*4367T>G) c.*4098T>G (n.*4098T>G) c.3699T>G (p.Thr1233=) c.2722+599T>G c.4050T>G (p.Thr1350=) c.3029T>G n.3334T>G n.4157T>G c.4167T>G (p.Thr1389=) c.4146T>G (p.Thr1382=) c.4128T>G (p.Thr1376=) c.4110T>G (p.Thr1370=) c.4071T>G (p.Thr1357=) c.4032T>G (p.Thr1344=) c.3756T>G (p.Thr1252=) c.3717T>G (p.Thr1239=) c.4107T>G (p.Thr1369=) c.4014T>G (p.Thr1338=) c.3489T>G (p.Thr1163=) c.3804T>G (p.Thr1268=) n.8376T>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.9475755T= | CA1344742789 | SETD5 | n.2948T= c.4089T= (p.Thr1363=) n.4982T= n.2373T= n.6235T= c.3993T= (p.Thr1331=) c.*4139T= (n.*4139T=) c.*4062T= (n.*4062T=) c.*4367T= (n.*4367T=) c.*4098T= (n.*4098T=) c.3699T= (p.Thr1233=) c.2722+599T= c.4050T= (p.Thr1350=) c.3029T= n.3334T= n.4157T= c.4167T= (p.Thr1389=) c.4146T= (p.Thr1382=) c.4128T= (p.Thr1376=) c.4110T= (p.Thr1370=) c.4071T= (p.Thr1357=) c.4032T= (p.Thr1344=) c.3756T= (p.Thr1252=) c.3717T= (p.Thr1239=) c.4107T= (p.Thr1369=) c.4014T= (p.Thr1338=) c.3489T= (p.Thr1163=) c.3804T= (p.Thr1268=) n.8376T= | |
3 | g.9475756G>A | CA351693530 | SETD5 | n.2949G>A c.4090G>A (p.Gly1364Ser) n.4983G>A n.2374G>A n.6236G>A c.3994G>A (p.Gly1332Ser) c.*4140G>A (n.*4140G>A) c.*4063G>A (n.*4063G>A) c.*4368G>A (n.*4368G>A) c.*4099G>A (n.*4099G>A) c.3700G>A (p.Gly1234Ser) c.2722+600G>A c.4051G>A (p.Gly1351Ser) c.3030G>A n.3335G>A n.4158G>A c.4168G>A (p.Gly1390Ser) c.4147G>A (p.Gly1383Ser) c.4129G>A (p.Gly1377Ser) c.4111G>A (p.Gly1371Ser) c.4072G>A (p.Gly1358Ser) c.4033G>A (p.Gly1345Ser) c.3757G>A (p.Gly1253Ser) c.3718G>A (p.Gly1240Ser) c.4108G>A (p.Gly1370Ser) c.4015G>A (p.Gly1339Ser) c.3490G>A (p.Gly1164Ser) c.3805G>A (p.Gly1269Ser) n.8377G>A | |
3 | g.9475756G>C | CA351693533 | SETD5 | n.2949G>C c.4090G>C (p.Gly1364Arg) n.4983G>C n.2374G>C n.6236G>C c.3994G>C (p.Gly1332Arg) c.*4140G>C (n.*4140G>C) c.*4063G>C (n.*4063G>C) c.*4368G>C (n.*4368G>C) c.*4099G>C (n.*4099G>C) c.3700G>C (p.Gly1234Arg) c.2722+600G>C c.4051G>C (p.Gly1351Arg) c.3030G>C n.3335G>C n.4158G>C c.4168G>C (p.Gly1390Arg) c.4147G>C (p.Gly1383Arg) c.4129G>C (p.Gly1377Arg) c.4111G>C (p.Gly1371Arg) c.4072G>C (p.Gly1358Arg) c.4033G>C (p.Gly1345Arg) c.3757G>C (p.Gly1253Arg) c.3718G>C (p.Gly1240Arg) c.4108G>C (p.Gly1370Arg) c.4015G>C (p.Gly1339Arg) c.3490G>C (p.Gly1164Arg) c.3805G>C (p.Gly1269Arg) n.8377G>C | |
3 | g.9475756G>T | CA351693538 | SETD5 | n.2949G>T c.4090G>T (p.Gly1364Cys) n.4983G>T n.2374G>T n.6236G>T c.3994G>T (p.Gly1332Cys) c.*4140G>T (n.*4140G>T) c.*4063G>T (n.*4063G>T) c.*4368G>T (n.*4368G>T) c.*4099G>T (n.*4099G>T) c.3700G>T (p.Gly1234Cys) c.2722+600G>T c.4051G>T (p.Gly1351Cys) c.3030G>T n.3335G>T n.4158G>T c.4168G>T (p.Gly1390Cys) c.4147G>T (p.Gly1383Cys) c.4129G>T (p.Gly1377Cys) c.4111G>T (p.Gly1371Cys) c.4072G>T (p.Gly1358Cys) c.4033G>T (p.Gly1345Cys) c.3757G>T (p.Gly1253Cys) c.3718G>T (p.Gly1240Cys) c.4108G>T (p.Gly1370Cys) c.4015G>T (p.Gly1339Cys) c.3490G>T (p.Gly1164Cys) c.3805G>T (p.Gly1269Cys) n.8377G>T | |
3 | g.9475757G>A | CA351693544 | SETD5 | n.2950G>A c.4091G>A (p.Gly1364Asp) n.4984G>A n.2375G>A n.6237G>A c.3995G>A (p.Gly1332Asp) c.*4141G>A (n.*4141G>A) c.*4064G>A (n.*4064G>A) c.*4369G>A (n.*4369G>A) c.*4100G>A (n.*4100G>A) c.3701G>A (p.Gly1234Asp) c.2722+601G>A c.4052G>A (p.Gly1351Asp) c.3031G>A n.3336G>A n.4159G>A c.4169G>A (p.Gly1390Asp) c.4148G>A (p.Gly1383Asp) c.4130G>A (p.Gly1377Asp) c.4112G>A (p.Gly1371Asp) c.4073G>A (p.Gly1358Asp) c.4034G>A (p.Gly1345Asp) c.3758G>A (p.Gly1253Asp) c.3719G>A (p.Gly1240Asp) c.4109G>A (p.Gly1370Asp) c.4016G>A (p.Gly1339Asp) c.3491G>A (p.Gly1164Asp) c.3806G>A (p.Gly1269Asp) n.8378G>A | |
3 | g.9475757G>C | CA351693549 | SETD5 | n.2950G>C c.4091G>C (p.Gly1364Ala) n.4984G>C n.2375G>C n.6237G>C c.3995G>C (p.Gly1332Ala) c.*4141G>C (n.*4141G>C) c.*4064G>C (n.*4064G>C) c.*4369G>C (n.*4369G>C) c.*4100G>C (n.*4100G>C) c.3701G>C (p.Gly1234Ala) c.2722+601G>C c.4052G>C (p.Gly1351Ala) c.3031G>C n.3336G>C n.4159G>C c.4169G>C (p.Gly1390Ala) c.4148G>C (p.Gly1383Ala) c.4130G>C (p.Gly1377Ala) c.4112G>C (p.Gly1371Ala) c.4073G>C (p.Gly1358Ala) c.4034G>C (p.Gly1345Ala) c.3758G>C (p.Gly1253Ala) c.3719G>C (p.Gly1240Ala) c.4109G>C (p.Gly1370Ala) c.4016G>C (p.Gly1339Ala) c.3491G>C (p.Gly1164Ala) c.3806G>C (p.Gly1269Ala) n.8378G>C | gnomAD v4 |
3 | g.9475757G>T | CA351693546 | SETD5 | n.2950G>T c.4091G>T (p.Gly1364Val) n.4984G>T n.2375G>T n.6237G>T c.3995G>T (p.Gly1332Val) c.*4141G>T (n.*4141G>T) c.*4064G>T (n.*4064G>T) c.*4369G>T (n.*4369G>T) c.*4100G>T (n.*4100G>T) c.3701G>T (p.Gly1234Val) c.2722+601G>T c.4052G>T (p.Gly1351Val) c.3031G>T n.3336G>T n.4159G>T c.4169G>T (p.Gly1390Val) c.4148G>T (p.Gly1383Val) c.4130G>T (p.Gly1377Val) c.4112G>T (p.Gly1371Val) c.4073G>T (p.Gly1358Val) c.4034G>T (p.Gly1345Val) c.3758G>T (p.Gly1253Val) c.3719G>T (p.Gly1240Val) c.4109G>T (p.Gly1370Val) c.4016G>T (p.Gly1339Val) c.3491G>T (p.Gly1164Val) c.3806G>T (p.Gly1269Val) n.8378G>T | |
3 | g.9475758C>A | CA432528463 | SETD5 | n.2951C>A c.4092C>A (p.Gly1364=) n.4985C>A n.2376C>A n.6238C>A c.3996C>A (p.Gly1332=) c.*4142C>A (n.*4142C>A) c.*4065C>A (n.*4065C>A) c.*4370C>A (n.*4370C>A) c.*4101C>A (n.*4101C>A) c.3702C>A (p.Gly1234=) c.2722+602C>A c.4053C>A (p.Gly1351=) c.3032C>A n.3337C>A n.4160C>A c.4170C>A (p.Gly1390=) c.4149C>A (p.Gly1383=) c.4131C>A (p.Gly1377=) c.4113C>A (p.Gly1371=) c.4074C>A (p.Gly1358=) c.4035C>A (p.Gly1345=) c.3759C>A (p.Gly1253=) c.3720C>A (p.Gly1240=) c.4110C>A (p.Gly1370=) c.4017C>A (p.Gly1339=) c.3492C>A (p.Gly1164=) c.3807C>A (p.Gly1269=) n.8379C>A | |
3 | g.9475758C>G | CA432528465 | SETD5 | n.2951C>G c.4092C>G (p.Gly1364=) n.4985C>G n.2376C>G n.6238C>G c.3996C>G (p.Gly1332=) c.*4142C>G (n.*4142C>G) c.*4065C>G (n.*4065C>G) c.*4370C>G (n.*4370C>G) c.*4101C>G (n.*4101C>G) c.3702C>G (p.Gly1234=) c.2722+602C>G c.4053C>G (p.Gly1351=) c.3032C>G n.3337C>G n.4160C>G c.4170C>G (p.Gly1390=) c.4149C>G (p.Gly1383=) c.4131C>G (p.Gly1377=) c.4113C>G (p.Gly1371=) c.4074C>G (p.Gly1358=) c.4035C>G (p.Gly1345=) c.3759C>G (p.Gly1253=) c.3720C>G (p.Gly1240=) c.4110C>G (p.Gly1370=) c.4017C>G (p.Gly1339=) c.3492C>G (p.Gly1164=) c.3807C>G (p.Gly1269=) n.8379C>G | |
3 | g.9475758C>T | CA432528467 | SETD5 | n.2951C>T c.4092C>T (p.Gly1364=) n.4985C>T n.2376C>T n.6238C>T c.3996C>T (p.Gly1332=) c.*4142C>T (n.*4142C>T) c.*4065C>T (n.*4065C>T) c.*4370C>T (n.*4370C>T) c.*4101C>T (n.*4101C>T) c.3702C>T (p.Gly1234=) c.2722+602C>T c.4053C>T (p.Gly1351=) c.3032C>T n.3337C>T n.4160C>T c.4170C>T (p.Gly1390=) c.4149C>T (p.Gly1383=) c.4131C>T (p.Gly1377=) c.4113C>T (p.Gly1371=) c.4074C>T (p.Gly1358=) c.4035C>T (p.Gly1345=) c.3759C>T (p.Gly1253=) c.3720C>T (p.Gly1240=) c.4110C>T (p.Gly1370=) c.4017C>T (p.Gly1339=) c.3492C>T (p.Gly1164=) c.3807C>T (p.Gly1269=) n.8379C>T | gnomAD v4 |
3 | g.9475759A= | CA1344742790 | SETD5 | n.2952A= c.4093A= (p.Ser1365=) n.4986A= n.2377A= n.6239A= c.3997A= (p.Ser1333=) c.*4143A= (n.*4143A=) c.*4066A= (n.*4066A=) c.*4371A= (n.*4371A=) c.*4102A= (n.*4102A=) c.3703A= (p.Ser1235=) c.2722+603A= c.4054A= (p.Ser1352=) c.3033A= n.3338A= n.4161A= c.4171A= (p.Ser1391=) c.4150A= (p.Ser1384=) c.4132A= (p.Ser1378=) c.4114A= (p.Ser1372=) c.4075A= (p.Ser1359=) c.4036A= (p.Ser1346=) c.3760A= (p.Ser1254=) c.3721A= (p.Ser1241=) c.4111A= (p.Ser1371=) c.4018A= (p.Ser1340=) c.3493A= (p.Ser1165=) c.3808A= (p.Ser1270=) n.8380A= | |
3 | g.9475759A>C | CA351693553 | SETD5 | n.2952A>C c.4093A>C (p.Ser1365Arg) n.4986A>C n.2377A>C n.6239A>C c.3997A>C (p.Ser1333Arg) c.*4143A>C (n.*4143A>C) c.*4066A>C (n.*4066A>C) c.*4371A>C (n.*4371A>C) c.*4102A>C (n.*4102A>C) c.3703A>C (p.Ser1235Arg) c.2722+603A>C c.4054A>C (p.Ser1352Arg) c.3033A>C n.3338A>C n.4161A>C c.4171A>C (p.Ser1391Arg) c.4150A>C (p.Ser1384Arg) c.4132A>C (p.Ser1378Arg) c.4114A>C (p.Ser1372Arg) c.4075A>C (p.Ser1359Arg) c.4036A>C (p.Ser1346Arg) c.3760A>C (p.Ser1254Arg) c.3721A>C (p.Ser1241Arg) c.4111A>C (p.Ser1371Arg) c.4018A>C (p.Ser1340Arg) c.3493A>C (p.Ser1165Arg) c.3808A>C (p.Ser1270Arg) n.8380A>C | gnomAD v4 |
3 | g.9475759A>G | CA351693556 | SETD5 | n.2952A>G c.4093A>G (p.Ser1365Gly) n.4986A>G n.2377A>G n.6239A>G c.3997A>G (p.Ser1333Gly) c.*4143A>G (n.*4143A>G) c.*4066A>G (n.*4066A>G) c.*4371A>G (n.*4371A>G) c.*4102A>G (n.*4102A>G) c.3703A>G (p.Ser1235Gly) c.2722+603A>G c.4054A>G (p.Ser1352Gly) c.3033A>G n.3338A>G n.4161A>G c.4171A>G (p.Ser1391Gly) c.4150A>G (p.Ser1384Gly) c.4132A>G (p.Ser1378Gly) c.4114A>G (p.Ser1372Gly) c.4075A>G (p.Ser1359Gly) c.4036A>G (p.Ser1346Gly) c.3760A>G (p.Ser1254Gly) c.3721A>G (p.Ser1241Gly) c.4111A>G (p.Ser1371Gly) c.4018A>G (p.Ser1340Gly) c.3493A>G (p.Ser1165Gly) c.3808A>G (p.Ser1270Gly) n.8380A>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.9475759A>T | CA351693559 | SETD5 | n.2952A>T c.4093A>T (p.Ser1365Cys) n.4986A>T n.2377A>T n.6239A>T c.3997A>T (p.Ser1333Cys) c.*4143A>T (n.*4143A>T) c.*4066A>T (n.*4066A>T) c.*4371A>T (n.*4371A>T) c.*4102A>T (n.*4102A>T) c.3703A>T (p.Ser1235Cys) c.2722+603A>T c.4054A>T (p.Ser1352Cys) c.3033A>T n.3338A>T n.4161A>T c.4171A>T (p.Ser1391Cys) c.4150A>T (p.Ser1384Cys) c.4132A>T (p.Ser1378Cys) c.4114A>T (p.Ser1372Cys) c.4075A>T (p.Ser1359Cys) c.4036A>T (p.Ser1346Cys) c.3760A>T (p.Ser1254Cys) c.3721A>T (p.Ser1241Cys) c.4111A>T (p.Ser1371Cys) c.4018A>T (p.Ser1340Cys) c.3493A>T (p.Ser1165Cys) c.3808A>T (p.Ser1270Cys) n.8380A>T | |
3 | g.9475760G>A | CA2239846 | SETD5 | n.2953G>A c.4094G>A (p.Ser1365Asn) n.4987G>A n.2378G>A n.6240G>A c.3998G>A (p.Ser1333Asn) c.*4144G>A (n.*4144G>A) c.*4067G>A (n.*4067G>A) c.*4372G>A (n.*4372G>A) c.*4103G>A (n.*4103G>A) c.3704G>A (p.Ser1235Asn) c.2722+604G>A c.4055G>A (p.Ser1352Asn) c.3034G>A n.3339G>A n.4162G>A c.4172G>A (p.Ser1391Asn) c.4151G>A (p.Ser1384Asn) c.4133G>A (p.Ser1378Asn) c.4115G>A (p.Ser1372Asn) c.4076G>A (p.Ser1359Asn) c.4037G>A (p.Ser1346Asn) c.3761G>A (p.Ser1254Asn) c.3722G>A (p.Ser1241Asn) c.4112G>A (p.Ser1371Asn) c.4019G>A (p.Ser1340Asn) c.3494G>A (p.Ser1165Asn) c.3809G>A (p.Ser1270Asn) n.8381G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.9475760G>C | CA351693570 | SETD5 | n.2953G>C c.4094G>C (p.Ser1365Thr) n.4987G>C n.2378G>C n.6240G>C c.3998G>C (p.Ser1333Thr) c.*4144G>C (n.*4144G>C) c.*4067G>C (n.*4067G>C) c.*4372G>C (n.*4372G>C) c.*4103G>C (n.*4103G>C) c.3704G>C (p.Ser1235Thr) c.2722+604G>C c.4055G>C (p.Ser1352Thr) c.3034G>C n.3339G>C n.4162G>C c.4172G>C (p.Ser1391Thr) c.4151G>C (p.Ser1384Thr) c.4133G>C (p.Ser1378Thr) c.4115G>C (p.Ser1372Thr) c.4076G>C (p.Ser1359Thr) c.4037G>C (p.Ser1346Thr) c.3761G>C (p.Ser1254Thr) c.3722G>C (p.Ser1241Thr) c.4112G>C (p.Ser1371Thr) c.4019G>C (p.Ser1340Thr) c.3494G>C (p.Ser1165Thr) c.3809G>C (p.Ser1270Thr) n.8381G>C | |
3 | g.9475760G= | CA1344742791 | SETD5 | n.2953G= c.4094G= (p.Ser1365=) n.4987G= n.2378G= n.6240G= c.3998G= (p.Ser1333=) c.*4144G= (n.*4144G=) c.*4067G= (n.*4067G=) c.*4372G= (n.*4372G=) c.*4103G= (n.*4103G=) c.3704G= (p.Ser1235=) c.2722+604G= c.4055G= (p.Ser1352=) c.3034G= n.3339G= n.4162G= c.4172G= (p.Ser1391=) c.4151G= (p.Ser1384=) c.4133G= (p.Ser1378=) c.4115G= (p.Ser1372=) c.4076G= (p.Ser1359=) c.4037G= (p.Ser1346=) c.3761G= (p.Ser1254=) c.3722G= (p.Ser1241=) c.4112G= (p.Ser1371=) c.4019G= (p.Ser1340=) c.3494G= (p.Ser1165=) c.3809G= (p.Ser1270=) n.8381G= | |
3 | g.9475760G>T | CA351693576 | SETD5 | n.2953G>T c.4094G>T (p.Ser1365Ile) n.4987G>T n.2378G>T n.6240G>T c.3998G>T (p.Ser1333Ile) c.*4144G>T (n.*4144G>T) c.*4067G>T (n.*4067G>T) c.*4372G>T (n.*4372G>T) c.*4103G>T (n.*4103G>T) c.3704G>T (p.Ser1235Ile) c.2722+604G>T c.4055G>T (p.Ser1352Ile) c.3034G>T n.3339G>T n.4162G>T c.4172G>T (p.Ser1391Ile) c.4151G>T (p.Ser1384Ile) c.4133G>T (p.Ser1378Ile) c.4115G>T (p.Ser1372Ile) c.4076G>T (p.Ser1359Ile) c.4037G>T (p.Ser1346Ile) c.3761G>T (p.Ser1254Ile) c.3722G>T (p.Ser1241Ile) c.4112G>T (p.Ser1371Ile) c.4019G>T (p.Ser1340Ile) c.3494G>T (p.Ser1165Ile) c.3809G>T (p.Ser1270Ile) n.8381G>T | |
3 | g.9475761C>A | CA351693580 | SETD5 | n.2954C>A c.4095C>A (p.Ser1365Arg) n.4988C>A n.2379C>A n.6241C>A c.3999C>A (p.Ser1333Arg) c.*4145C>A (n.*4145C>A) c.*4068C>A (n.*4068C>A) c.*4373C>A (n.*4373C>A) c.*4104C>A (n.*4104C>A) c.3705C>A (p.Ser1235Arg) c.2722+605C>A c.4056C>A (p.Ser1352Arg) c.3035C>A n.3340C>A n.4163C>A c.4173C>A (p.Ser1391Arg) c.4152C>A (p.Ser1384Arg) c.4134C>A (p.Ser1378Arg) c.4116C>A (p.Ser1372Arg) c.4077C>A (p.Ser1359Arg) c.4038C>A (p.Ser1346Arg) c.3762C>A (p.Ser1254Arg) c.3723C>A (p.Ser1241Arg) c.4113C>A (p.Ser1371Arg) c.4020C>A (p.Ser1340Arg) c.3495C>A (p.Ser1165Arg) c.3810C>A (p.Ser1270Arg) n.8382C>A | |
3 | g.9475761C>G | CA351693584 | SETD5 | n.2954C>G c.4095C>G (p.Ser1365Arg) n.4988C>G n.2379C>G n.6241C>G c.3999C>G (p.Ser1333Arg) c.*4145C>G (n.*4145C>G) c.*4068C>G (n.*4068C>G) c.*4373C>G (n.*4373C>G) c.*4104C>G (n.*4104C>G) c.3705C>G (p.Ser1235Arg) c.2722+605C>G c.4056C>G (p.Ser1352Arg) c.3035C>G n.3340C>G n.4163C>G c.4173C>G (p.Ser1391Arg) c.4152C>G (p.Ser1384Arg) c.4134C>G (p.Ser1378Arg) c.4116C>G (p.Ser1372Arg) c.4077C>G (p.Ser1359Arg) c.4038C>G (p.Ser1346Arg) c.3762C>G (p.Ser1254Arg) c.3723C>G (p.Ser1241Arg) c.4113C>G (p.Ser1371Arg) c.4020C>G (p.Ser1340Arg) c.3495C>G (p.Ser1165Arg) c.3810C>G (p.Ser1270Arg) n.8382C>G | |
3 | g.9475761C>T | CA432528469 | SETD5 | n.2954C>T c.4095C>T (p.Ser1365=) n.4988C>T n.2379C>T n.6241C>T c.3999C>T (p.Ser1333=) c.*4145C>T (n.*4145C>T) c.*4068C>T (n.*4068C>T) c.*4373C>T (n.*4373C>T) c.*4104C>T (n.*4104C>T) c.3705C>T (p.Ser1235=) c.2722+605C>T c.4056C>T (p.Ser1352=) c.3035C>T n.3340C>T n.4163C>T c.4173C>T (p.Ser1391=) c.4152C>T (p.Ser1384=) c.4134C>T (p.Ser1378=) c.4116C>T (p.Ser1372=) c.4077C>T (p.Ser1359=) c.4038C>T (p.Ser1346=) c.3762C>T (p.Ser1254=) c.3723C>T (p.Ser1241=) c.4113C>T (p.Ser1371=) c.4020C>T (p.Ser1340=) c.3495C>T (p.Ser1165=) c.3810C>T (p.Ser1270=) n.8382C>T | gnomAD v4 |
3 | g.9475762A>C | CA351693590 | SETD5 | n.2955A>C c.4096A>C (p.Asn1366His) n.4989A>C n.2380A>C n.6242A>C c.4000A>C (p.Asn1334His) c.*4146A>C (n.*4146A>C) c.*4069A>C (n.*4069A>C) c.*4374A>C (n.*4374A>C) c.*4105A>C (n.*4105A>C) c.3706A>C (p.Asn1236His) c.2722+606A>C c.4057A>C (p.Asn1353His) c.3036A>C n.3341A>C n.4164A>C c.4174A>C (p.Asn1392His) c.4153A>C (p.Asn1385His) c.4135A>C (p.Asn1379His) c.4117A>C (p.Asn1373His) c.4078A>C (p.Asn1360His) c.4039A>C (p.Asn1347His) c.3763A>C (p.Asn1255His) c.3724A>C (p.Asn1242His) c.4114A>C (p.Asn1372His) c.4021A>C (p.Asn1341His) c.3496A>C (p.Asn1166His) c.3811A>C (p.Asn1271His) n.8383A>C | |
3 | g.9475762A>G | CA351693593 | SETD5 | n.2955A>G c.4096A>G (p.Asn1366Asp) n.4989A>G n.2380A>G n.6242A>G c.4000A>G (p.Asn1334Asp) c.*4146A>G (n.*4146A>G) c.*4069A>G (n.*4069A>G) c.*4374A>G (n.*4374A>G) c.*4105A>G (n.*4105A>G) c.3706A>G (p.Asn1236Asp) c.2722+606A>G c.4057A>G (p.Asn1353Asp) c.3036A>G n.3341A>G n.4164A>G c.4174A>G (p.Asn1392Asp) c.4153A>G (p.Asn1385Asp) c.4135A>G (p.Asn1379Asp) c.4117A>G (p.Asn1373Asp) c.4078A>G (p.Asn1360Asp) c.4039A>G (p.Asn1347Asp) c.3763A>G (p.Asn1255Asp) c.3724A>G (p.Asn1242Asp) c.4114A>G (p.Asn1372Asp) c.4021A>G (p.Asn1341Asp) c.3496A>G (p.Asn1166Asp) c.3811A>G (p.Asn1271Asp) n.8383A>G | |
3 | g.9475762A>T | CA351693595 | SETD5 | n.2955A>T c.4096A>T (p.Asn1366Tyr) n.4989A>T n.2380A>T n.6242A>T c.4000A>T (p.Asn1334Tyr) c.*4146A>T (n.*4146A>T) c.*4069A>T (n.*4069A>T) c.*4374A>T (n.*4374A>T) c.*4105A>T (n.*4105A>T) c.3706A>T (p.Asn1236Tyr) c.2722+606A>T c.4057A>T (p.Asn1353Tyr) c.3036A>T n.3341A>T n.4164A>T c.4174A>T (p.Asn1392Tyr) c.4153A>T (p.Asn1385Tyr) c.4135A>T (p.Asn1379Tyr) c.4117A>T (p.Asn1373Tyr) c.4078A>T (p.Asn1360Tyr) c.4039A>T (p.Asn1347Tyr) c.3763A>T (p.Asn1255Tyr) c.3724A>T (p.Asn1242Tyr) c.4114A>T (p.Asn1372Tyr) c.4021A>T (p.Asn1341Tyr) c.3496A>T (p.Asn1166Tyr) c.3811A>T (p.Asn1271Tyr) n.8383A>T | |
3 | g.9475763A= | CA1344742792 | SETD5 | n.2956A= c.4097A= (p.Asn1366=) n.4990A= n.2381A= n.6243A= c.4001A= (p.Asn1334=) c.*4147A= (n.*4147A=) c.*4070A= (n.*4070A=) c.*4375A= (n.*4375A=) c.*4106A= (n.*4106A=) c.3707A= (p.Asn1236=) c.2722+607A= c.4058A= (p.Asn1353=) c.3037A= n.3342A= n.4165A= c.4175A= (p.Asn1392=) c.4154A= (p.Asn1385=) c.4136A= (p.Asn1379=) c.4118A= (p.Asn1373=) c.4079A= (p.Asn1360=) c.4040A= (p.Asn1347=) c.3764A= (p.Asn1255=) c.3725A= (p.Asn1242=) c.4115A= (p.Asn1372=) c.4022A= (p.Asn1341=) c.3497A= (p.Asn1166=) c.3812A= (p.Asn1271=) n.8384A= | |
3 | g.9475763A>C | CA351693604 | SETD5 | n.2956A>C c.4097A>C (p.Asn1366Thr) n.4990A>C n.2381A>C n.6243A>C c.4001A>C (p.Asn1334Thr) c.*4147A>C (n.*4147A>C) c.*4070A>C (n.*4070A>C) c.*4375A>C (n.*4375A>C) c.*4106A>C (n.*4106A>C) c.3707A>C (p.Asn1236Thr) c.2722+607A>C c.4058A>C (p.Asn1353Thr) c.3037A>C n.3342A>C n.4165A>C c.4175A>C (p.Asn1392Thr) c.4154A>C (p.Asn1385Thr) c.4136A>C (p.Asn1379Thr) c.4118A>C (p.Asn1373Thr) c.4079A>C (p.Asn1360Thr) c.4040A>C (p.Asn1347Thr) c.3764A>C (p.Asn1255Thr) c.3725A>C (p.Asn1242Thr) c.4115A>C (p.Asn1372Thr) c.4022A>C (p.Asn1341Thr) c.3497A>C (p.Asn1166Thr) c.3812A>C (p.Asn1271Thr) n.8384A>C | |
3 | g.9475763A>G | CA2239847 | SETD5 | n.2956A>G c.4097A>G (p.Asn1366Ser) n.4990A>G n.2381A>G n.6243A>G c.4001A>G (p.Asn1334Ser) c.*4147A>G (n.*4147A>G) c.*4070A>G (n.*4070A>G) c.*4375A>G (n.*4375A>G) c.*4106A>G (n.*4106A>G) c.3707A>G (p.Asn1236Ser) c.2722+607A>G c.4058A>G (p.Asn1353Ser) c.3037A>G n.3342A>G n.4165A>G c.4175A>G (p.Asn1392Ser) c.4154A>G (p.Asn1385Ser) c.4136A>G (p.Asn1379Ser) c.4118A>G (p.Asn1373Ser) c.4079A>G (p.Asn1360Ser) c.4040A>G (p.Asn1347Ser) c.3764A>G (p.Asn1255Ser) c.3725A>G (p.Asn1242Ser) c.4115A>G (p.Asn1372Ser) c.4022A>G (p.Asn1341Ser) c.3497A>G (p.Asn1166Ser) c.3812A>G (p.Asn1271Ser) n.8384A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475763A>T | CA351693600 | SETD5 | n.2956A>T c.4097A>T (p.Asn1366Ile) n.4990A>T n.2381A>T n.6243A>T c.4001A>T (p.Asn1334Ile) c.*4147A>T (n.*4147A>T) c.*4070A>T (n.*4070A>T) c.*4375A>T (n.*4375A>T) c.*4106A>T (n.*4106A>T) c.3707A>T (p.Asn1236Ile) c.2722+607A>T c.4058A>T (p.Asn1353Ile) c.3037A>T n.3342A>T n.4165A>T c.4175A>T (p.Asn1392Ile) c.4154A>T (p.Asn1385Ile) c.4136A>T (p.Asn1379Ile) c.4118A>T (p.Asn1373Ile) c.4079A>T (p.Asn1360Ile) c.4040A>T (p.Asn1347Ile) c.3764A>T (p.Asn1255Ile) c.3725A>T (p.Asn1242Ile) c.4115A>T (p.Asn1372Ile) c.4022A>T (p.Asn1341Ile) c.3497A>T (p.Asn1166Ile) c.3812A>T (p.Asn1271Ile) n.8384A>T | |
3 | g.9475764T>A | CA351693605 | SETD5 | n.2957T>A c.4098T>A (p.Asn1366Lys) n.4991T>A n.2382T>A n.6244T>A c.4002T>A (p.Asn1334Lys) c.*4148T>A (n.*4148T>A) c.*4071T>A (n.*4071T>A) c.*4376T>A (n.*4376T>A) c.*4107T>A (n.*4107T>A) c.3708T>A (p.Asn1236Lys) c.2722+608T>A c.4059T>A (p.Asn1353Lys) c.3038T>A n.3343T>A n.4166T>A c.4176T>A (p.Asn1392Lys) c.4155T>A (p.Asn1385Lys) c.4137T>A (p.Asn1379Lys) c.4119T>A (p.Asn1373Lys) c.4080T>A (p.Asn1360Lys) c.4041T>A (p.Asn1347Lys) c.3765T>A (p.Asn1255Lys) c.3726T>A (p.Asn1242Lys) c.4116T>A (p.Asn1372Lys) c.4023T>A (p.Asn1341Lys) c.3498T>A (p.Asn1166Lys) c.3813T>A (p.Asn1271Lys) n.8385T>A | |
3 | g.9475764T>C | CA432528477 | SETD5 | n.2957T>C c.4098T>C (p.Asn1366=) n.4991T>C n.2382T>C n.6244T>C c.4002T>C (p.Asn1334=) c.*4148T>C (n.*4148T>C) c.*4071T>C (n.*4071T>C) c.*4376T>C (n.*4376T>C) c.*4107T>C (n.*4107T>C) c.3708T>C (p.Asn1236=) c.2722+608T>C c.4059T>C (p.Asn1353=) c.3038T>C n.3343T>C n.4166T>C c.4176T>C (p.Asn1392=) c.4155T>C (p.Asn1385=) c.4137T>C (p.Asn1379=) c.4119T>C (p.Asn1373=) c.4080T>C (p.Asn1360=) c.4041T>C (p.Asn1347=) c.3765T>C (p.Asn1255=) c.3726T>C (p.Asn1242=) c.4116T>C (p.Asn1372=) c.4023T>C (p.Asn1341=) c.3498T>C (p.Asn1166=) c.3813T>C (p.Asn1271=) n.8385T>C | |
3 | g.9475764T>G | CA351693608 | SETD5 | n.2957T>G c.4098T>G (p.Asn1366Lys) n.4991T>G n.2382T>G n.6244T>G c.4002T>G (p.Asn1334Lys) c.*4148T>G (n.*4148T>G) c.*4071T>G (n.*4071T>G) c.*4376T>G (n.*4376T>G) c.*4107T>G (n.*4107T>G) c.3708T>G (p.Asn1236Lys) c.2722+608T>G c.4059T>G (p.Asn1353Lys) c.3038T>G n.3343T>G n.4166T>G c.4176T>G (p.Asn1392Lys) c.4155T>G (p.Asn1385Lys) c.4137T>G (p.Asn1379Lys) c.4119T>G (p.Asn1373Lys) c.4080T>G (p.Asn1360Lys) c.4041T>G (p.Asn1347Lys) c.3765T>G (p.Asn1255Lys) c.3726T>G (p.Asn1242Lys) c.4116T>G (p.Asn1372Lys) c.4023T>G (p.Asn1341Lys) c.3498T>G (p.Asn1166Lys) c.3813T>G (p.Asn1271Lys) n.8385T>G | |
3 | g.9475765C>A | CA351693613 | SETD5 | n.2958C>A c.4099C>A (p.Leu1367Ile) n.4992C>A n.2383C>A n.6245C>A c.4003C>A (p.Leu1335Ile) c.*4149C>A (n.*4149C>A) c.*4072C>A (n.*4072C>A) c.*4377C>A (n.*4377C>A) c.*4108C>A (n.*4108C>A) c.3709C>A (p.Leu1237Ile) c.2722+609C>A c.4060C>A (p.Leu1354Ile) c.3039C>A n.3344C>A n.4167C>A c.4177C>A (p.Leu1393Ile) c.4156C>A (p.Leu1386Ile) c.4138C>A (p.Leu1380Ile) c.4120C>A (p.Leu1374Ile) c.4081C>A (p.Leu1361Ile) c.4042C>A (p.Leu1348Ile) c.3766C>A (p.Leu1256Ile) c.3727C>A (p.Leu1243Ile) c.4117C>A (p.Leu1373Ile) c.4024C>A (p.Leu1342Ile) c.3499C>A (p.Leu1167Ile) c.3814C>A (p.Leu1272Ile) n.8386C>A | |
3 | g.9475765C= | CA1344742793 | SETD5 | n.2958C= c.4099C= (p.Leu1367=) n.4992C= n.2383C= n.6245C= c.4003C= (p.Leu1335=) c.*4149C= (n.*4149C=) c.*4072C= (n.*4072C=) c.*4377C= (n.*4377C=) c.*4108C= (n.*4108C=) c.3709C= (p.Leu1237=) c.2722+609C= c.4060C= (p.Leu1354=) c.3039C= n.3344C= n.4167C= c.4177C= (p.Leu1393=) c.4156C= (p.Leu1386=) c.4138C= (p.Leu1380=) c.4120C= (p.Leu1374=) c.4081C= (p.Leu1361=) c.4042C= (p.Leu1348=) c.3766C= (p.Leu1256=) c.3727C= (p.Leu1243=) c.4117C= (p.Leu1373=) c.4024C= (p.Leu1342=) c.3499C= (p.Leu1167=) c.3814C= (p.Leu1272=) n.8386C= | |
3 | g.9475765C>G | CA351693620 | SETD5 | n.2958C>G c.4099C>G (p.Leu1367Val) n.4992C>G n.2383C>G n.6245C>G c.4003C>G (p.Leu1335Val) c.*4149C>G (n.*4149C>G) c.*4072C>G (n.*4072C>G) c.*4377C>G (n.*4377C>G) c.*4108C>G (n.*4108C>G) c.3709C>G (p.Leu1237Val) c.2722+609C>G c.4060C>G (p.Leu1354Val) c.3039C>G n.3344C>G n.4167C>G c.4177C>G (p.Leu1393Val) c.4156C>G (p.Leu1386Val) c.4138C>G (p.Leu1380Val) c.4120C>G (p.Leu1374Val) c.4081C>G (p.Leu1361Val) c.4042C>G (p.Leu1348Val) c.3766C>G (p.Leu1256Val) c.3727C>G (p.Leu1243Val) c.4117C>G (p.Leu1373Val) c.4024C>G (p.Leu1342Val) c.3499C>G (p.Leu1167Val) c.3814C>G (p.Leu1272Val) n.8386C>G | |
3 | g.9475765C>T | CA351693617 | SETD5 | n.2958C>T c.4099C>T (p.Leu1367Phe) n.4992C>T n.2383C>T n.6245C>T c.4003C>T (p.Leu1335Phe) c.*4149C>T (n.*4149C>T) c.*4072C>T (n.*4072C>T) c.*4377C>T (n.*4377C>T) c.*4108C>T (n.*4108C>T) c.3709C>T (p.Leu1237Phe) c.2722+609C>T c.4060C>T (p.Leu1354Phe) c.3039C>T n.3344C>T n.4167C>T c.4177C>T (p.Leu1393Phe) c.4156C>T (p.Leu1386Phe) c.4138C>T (p.Leu1380Phe) c.4120C>T (p.Leu1374Phe) c.4081C>T (p.Leu1361Phe) c.4042C>T (p.Leu1348Phe) c.3766C>T (p.Leu1256Phe) c.3727C>T (p.Leu1243Phe) c.4117C>T (p.Leu1373Phe) c.4024C>T (p.Leu1342Phe) c.3499C>T (p.Leu1167Phe) c.3814C>T (p.Leu1272Phe) n.8386C>T | dbSNP gnomAD v2 |
3 | g.9475766T>A | CA351693624 | SETD5 | n.2959T>A c.4100T>A (p.Leu1367His) n.4993T>A n.2384T>A n.6246T>A c.4004T>A (p.Leu1335His) c.*4150T>A (n.*4150T>A) c.*4073T>A (n.*4073T>A) c.*4378T>A (n.*4378T>A) c.*4109T>A (n.*4109T>A) c.3710T>A (p.Leu1237His) c.2722+610T>A c.4061T>A (p.Leu1354His) c.3040T>A n.3345T>A n.4168T>A c.4178T>A (p.Leu1393His) c.4157T>A (p.Leu1386His) c.4139T>A (p.Leu1380His) c.4121T>A (p.Leu1374His) c.4082T>A (p.Leu1361His) c.4043T>A (p.Leu1348His) c.3767T>A (p.Leu1256His) c.3728T>A (p.Leu1243His) c.4118T>A (p.Leu1373His) c.4025T>A (p.Leu1342His) c.3500T>A (p.Leu1167His) c.3815T>A (p.Leu1272His) n.8387T>A | |
3 | g.9475766T>C | CA351693631 | SETD5 | n.2959T>C c.4100T>C (p.Leu1367Pro) n.4993T>C n.2384T>C n.6246T>C c.4004T>C (p.Leu1335Pro) c.*4150T>C (n.*4150T>C) c.*4073T>C (n.*4073T>C) c.*4378T>C (n.*4378T>C) c.*4109T>C (n.*4109T>C) c.3710T>C (p.Leu1237Pro) c.2722+610T>C c.4061T>C (p.Leu1354Pro) c.3040T>C n.3345T>C n.4168T>C c.4178T>C (p.Leu1393Pro) c.4157T>C (p.Leu1386Pro) c.4139T>C (p.Leu1380Pro) c.4121T>C (p.Leu1374Pro) c.4082T>C (p.Leu1361Pro) c.4043T>C (p.Leu1348Pro) c.3767T>C (p.Leu1256Pro) c.3728T>C (p.Leu1243Pro) c.4118T>C (p.Leu1373Pro) c.4025T>C (p.Leu1342Pro) c.3500T>C (p.Leu1167Pro) c.3815T>C (p.Leu1272Pro) n.8387T>C | |
3 | g.9475766T>G | CA351693627 | SETD5 | n.2959T>G c.4100T>G (p.Leu1367Arg) n.4993T>G n.2384T>G n.6246T>G c.4004T>G (p.Leu1335Arg) c.*4150T>G (n.*4150T>G) c.*4073T>G (n.*4073T>G) c.*4378T>G (n.*4378T>G) c.*4109T>G (n.*4109T>G) c.3710T>G (p.Leu1237Arg) c.2722+610T>G c.4061T>G (p.Leu1354Arg) c.3040T>G n.3345T>G n.4168T>G c.4178T>G (p.Leu1393Arg) c.4157T>G (p.Leu1386Arg) c.4139T>G (p.Leu1380Arg) c.4121T>G (p.Leu1374Arg) c.4082T>G (p.Leu1361Arg) c.4043T>G (p.Leu1348Arg) c.3767T>G (p.Leu1256Arg) c.3728T>G (p.Leu1243Arg) c.4118T>G (p.Leu1373Arg) c.4025T>G (p.Leu1342Arg) c.3500T>G (p.Leu1167Arg) c.3815T>G (p.Leu1272Arg) n.8387T>G | |
3 | g.9475767T>A | CA432528482 | SETD5 | n.2960T>A c.4101T>A (p.Leu1367=) n.4994T>A n.2385T>A n.6247T>A c.4005T>A (p.Leu1335=) c.*4151T>A (n.*4151T>A) c.*4074T>A (n.*4074T>A) c.*4379T>A (n.*4379T>A) c.*4110T>A (n.*4110T>A) c.3711T>A (p.Leu1237=) c.2722+611T>A c.4062T>A (p.Leu1354=) c.3041T>A n.3346T>A n.4169T>A c.4179T>A (p.Leu1393=) c.4158T>A (p.Leu1386=) c.4140T>A (p.Leu1380=) c.4122T>A (p.Leu1374=) c.4083T>A (p.Leu1361=) c.4044T>A (p.Leu1348=) c.3768T>A (p.Leu1256=) c.3729T>A (p.Leu1243=) c.4119T>A (p.Leu1373=) c.4026T>A (p.Leu1342=) c.3501T>A (p.Leu1167=) c.3816T>A (p.Leu1272=) n.8388T>A | |
3 | g.9475767T>C | CA432528483 | SETD5 | n.2960T>C c.4101T>C (p.Leu1367=) n.4994T>C n.2385T>C n.6247T>C c.4005T>C (p.Leu1335=) c.*4151T>C (n.*4151T>C) c.*4074T>C (n.*4074T>C) c.*4379T>C (n.*4379T>C) c.*4110T>C (n.*4110T>C) c.3711T>C (p.Leu1237=) c.2722+611T>C c.4062T>C (p.Leu1354=) c.3041T>C n.3346T>C n.4169T>C c.4179T>C (p.Leu1393=) c.4158T>C (p.Leu1386=) c.4140T>C (p.Leu1380=) c.4122T>C (p.Leu1374=) c.4083T>C (p.Leu1361=) c.4044T>C (p.Leu1348=) c.3768T>C (p.Leu1256=) c.3729T>C (p.Leu1243=) c.4119T>C (p.Leu1373=) c.4026T>C (p.Leu1342=) c.3501T>C (p.Leu1167=) c.3816T>C (p.Leu1272=) n.8388T>C | |
3 | g.9475767T>G | CA432528484 | SETD5 | n.2960T>G c.4101T>G (p.Leu1367=) n.4994T>G n.2385T>G n.6247T>G c.4005T>G (p.Leu1335=) c.*4151T>G (n.*4151T>G) c.*4074T>G (n.*4074T>G) c.*4379T>G (n.*4379T>G) c.*4110T>G (n.*4110T>G) c.3711T>G (p.Leu1237=) c.2722+611T>G c.4062T>G (p.Leu1354=) c.3041T>G n.3346T>G n.4169T>G c.4179T>G (p.Leu1393=) c.4158T>G (p.Leu1386=) c.4140T>G (p.Leu1380=) c.4122T>G (p.Leu1374=) c.4083T>G (p.Leu1361=) c.4044T>G (p.Leu1348=) c.3768T>G (p.Leu1256=) c.3729T>G (p.Leu1243=) c.4119T>G (p.Leu1373=) c.4026T>G (p.Leu1342=) c.3501T>G (p.Leu1167=) c.3816T>G (p.Leu1272=) n.8388T>G | |
3 | g.9475768C>A | CA351693637 | SETD5 | n.2961C>A c.4102C>A (p.Pro1368Thr) n.4995C>A n.2386C>A n.6248C>A c.4006C>A (p.Pro1336Thr) c.*4152C>A (n.*4152C>A) c.*4075C>A (n.*4075C>A) c.*4380C>A (n.*4380C>A) c.*4111C>A (n.*4111C>A) c.3712C>A (p.Pro1238Thr) c.2722+612C>A c.4063C>A (p.Pro1355Thr) c.3042C>A n.3347C>A n.4170C>A c.4180C>A (p.Pro1394Thr) c.4159C>A (p.Pro1387Thr) c.4141C>A (p.Pro1381Thr) c.4123C>A (p.Pro1375Thr) c.4084C>A (p.Pro1362Thr) c.4045C>A (p.Pro1349Thr) c.3769C>A (p.Pro1257Thr) c.3730C>A (p.Pro1244Thr) c.4120C>A (p.Pro1374Thr) c.4027C>A (p.Pro1343Thr) c.3502C>A (p.Pro1168Thr) c.3817C>A (p.Pro1273Thr) n.8389C>A | |
3 | g.9475768C= | CA1344742794 | SETD5 | n.2961C= c.4102C= (p.Pro1368=) n.4995C= n.2386C= n.6248C= c.4006C= (p.Pro1336=) c.*4152C= (n.*4152C=) c.*4075C= (n.*4075C=) c.*4380C= (n.*4380C=) c.*4111C= (n.*4111C=) c.3712C= (p.Pro1238=) c.2722+612C= c.4063C= (p.Pro1355=) c.3042C= n.3347C= n.4170C= c.4180C= (p.Pro1394=) c.4159C= (p.Pro1387=) c.4141C= (p.Pro1381=) c.4123C= (p.Pro1375=) c.4084C= (p.Pro1362=) c.4045C= (p.Pro1349=) c.3769C= (p.Pro1257=) c.3730C= (p.Pro1244=) c.4120C= (p.Pro1374=) c.4027C= (p.Pro1343=) c.3502C= (p.Pro1168=) c.3817C= (p.Pro1273=) n.8389C= | |
3 | g.9475768C>G | CA351693640 | SETD5 | n.2961C>G c.4102C>G (p.Pro1368Ala) n.4995C>G n.2386C>G n.6248C>G c.4006C>G (p.Pro1336Ala) c.*4152C>G (n.*4152C>G) c.*4075C>G (n.*4075C>G) c.*4380C>G (n.*4380C>G) c.*4111C>G (n.*4111C>G) c.3712C>G (p.Pro1238Ala) c.2722+612C>G c.4063C>G (p.Pro1355Ala) c.3042C>G n.3347C>G n.4170C>G c.4180C>G (p.Pro1394Ala) c.4159C>G (p.Pro1387Ala) c.4141C>G (p.Pro1381Ala) c.4123C>G (p.Pro1375Ala) c.4084C>G (p.Pro1362Ala) c.4045C>G (p.Pro1349Ala) c.3769C>G (p.Pro1257Ala) c.3730C>G (p.Pro1244Ala) c.4120C>G (p.Pro1374Ala) c.4027C>G (p.Pro1343Ala) c.3502C>G (p.Pro1168Ala) c.3817C>G (p.Pro1273Ala) n.8389C>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.9475768C>T | CA2239848 | SETD5 | n.2961C>T c.4102C>T (p.Pro1368Ser) n.4995C>T n.2386C>T n.6248C>T c.4006C>T (p.Pro1336Ser) c.*4152C>T (n.*4152C>T) c.*4075C>T (n.*4075C>T) c.*4380C>T (n.*4380C>T) c.*4111C>T (n.*4111C>T) c.3712C>T (p.Pro1238Ser) c.2722+612C>T c.4063C>T (p.Pro1355Ser) c.3042C>T n.3347C>T n.4170C>T c.4180C>T (p.Pro1394Ser) c.4159C>T (p.Pro1387Ser) c.4141C>T (p.Pro1381Ser) c.4123C>T (p.Pro1375Ser) c.4084C>T (p.Pro1362Ser) c.4045C>T (p.Pro1349Ser) c.3769C>T (p.Pro1257Ser) c.3730C>T (p.Pro1244Ser) c.4120C>T (p.Pro1374Ser) c.4027C>T (p.Pro1343Ser) c.3502C>T (p.Pro1168Ser) c.3817C>T (p.Pro1273Ser) n.8389C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.9475769C>A | CA351693651 | SETD5 | n.2962C>A c.4103C>A (p.Pro1368Gln) n.4996C>A n.2387C>A n.6249C>A c.4007C>A (p.Pro1336Gln) c.*4153C>A (n.*4153C>A) c.*4076C>A (n.*4076C>A) c.*4381C>A (n.*4381C>A) c.*4112C>A (n.*4112C>A) c.3713C>A (p.Pro1238Gln) c.2722+613C>A c.4064C>A (p.Pro1355Gln) c.3043C>A n.3348C>A n.4171C>A c.4181C>A (p.Pro1394Gln) c.4160C>A (p.Pro1387Gln) c.4142C>A (p.Pro1381Gln) c.4124C>A (p.Pro1375Gln) c.4085C>A (p.Pro1362Gln) c.4046C>A (p.Pro1349Gln) c.3770C>A (p.Pro1257Gln) c.3731C>A (p.Pro1244Gln) c.4121C>A (p.Pro1374Gln) c.4028C>A (p.Pro1343Gln) c.3503C>A (p.Pro1168Gln) c.3818C>A (p.Pro1273Gln) n.8390C>A | |
3 | g.9475769C= | CA1344742795 | SETD5 | n.2962C= c.4103C= (p.Pro1368=) n.4996C= n.2387C= n.6249C= c.4007C= (p.Pro1336=) c.*4153C= (n.*4153C=) c.*4076C= (n.*4076C=) c.*4381C= (n.*4381C=) c.*4112C= (n.*4112C=) c.3713C= (p.Pro1238=) c.2722+613C= c.4064C= (p.Pro1355=) c.3043C= n.3348C= n.4171C= c.4181C= (p.Pro1394=) c.4160C= (p.Pro1387=) c.4142C= (p.Pro1381=) c.4124C= (p.Pro1375=) c.4085C= (p.Pro1362=) c.4046C= (p.Pro1349=) c.3770C= (p.Pro1257=) c.3731C= (p.Pro1244=) c.4121C= (p.Pro1374=) c.4028C= (p.Pro1343=) c.3503C= (p.Pro1168=) c.3818C= (p.Pro1273=) n.8390C= | |
3 | g.9475769C>G | CA351693655 | SETD5 | n.2962C>G c.4103C>G (p.Pro1368Arg) n.4996C>G n.2387C>G n.6249C>G c.4007C>G (p.Pro1336Arg) c.*4153C>G (n.*4153C>G) c.*4076C>G (n.*4076C>G) c.*4381C>G (n.*4381C>G) c.*4112C>G (n.*4112C>G) c.3713C>G (p.Pro1238Arg) c.2722+613C>G c.4064C>G (p.Pro1355Arg) c.3043C>G n.3348C>G n.4171C>G c.4181C>G (p.Pro1394Arg) c.4160C>G (p.Pro1387Arg) c.4142C>G (p.Pro1381Arg) c.4124C>G (p.Pro1375Arg) c.4085C>G (p.Pro1362Arg) c.4046C>G (p.Pro1349Arg) c.3770C>G (p.Pro1257Arg) c.3731C>G (p.Pro1244Arg) c.4121C>G (p.Pro1374Arg) c.4028C>G (p.Pro1343Arg) c.3503C>G (p.Pro1168Arg) c.3818C>G (p.Pro1273Arg) n.8390C>G | |
3 | g.9475769C>T | CA2239849 | SETD5 | n.2962C>T c.4103C>T (p.Pro1368Leu) n.4996C>T n.2387C>T n.6249C>T c.4007C>T (p.Pro1336Leu) c.*4153C>T (n.*4153C>T) c.*4076C>T (n.*4076C>T) c.*4381C>T (n.*4381C>T) c.*4112C>T (n.*4112C>T) c.3713C>T (p.Pro1238Leu) c.2722+613C>T c.4064C>T (p.Pro1355Leu) c.3043C>T n.3348C>T n.4171C>T c.4181C>T (p.Pro1394Leu) c.4160C>T (p.Pro1387Leu) c.4142C>T (p.Pro1381Leu) c.4124C>T (p.Pro1375Leu) c.4085C>T (p.Pro1362Leu) c.4046C>T (p.Pro1349Leu) c.3770C>T (p.Pro1257Leu) c.3731C>T (p.Pro1244Leu) c.4121C>T (p.Pro1374Leu) c.4028C>T (p.Pro1343Leu) c.3503C>T (p.Pro1168Leu) c.3818C>T (p.Pro1273Leu) n.8390C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.9475770A>C | CA432528489 | SETD5 | n.2963A>C c.4104A>C (p.Pro1368=) n.4997A>C n.2388A>C n.6250A>C c.4008A>C (p.Pro1336=) c.*4154A>C (n.*4154A>C) c.*4077A>C (n.*4077A>C) c.*4382A>C (n.*4382A>C) c.*4113A>C (n.*4113A>C) c.3714A>C (p.Pro1238=) c.2722+614A>C c.4065A>C (p.Pro1355=) c.3044A>C n.3349A>C n.4172A>C c.4182A>C (p.Pro1394=) c.4161A>C (p.Pro1387=) c.4143A>C (p.Pro1381=) c.4125A>C (p.Pro1375=) c.4086A>C (p.Pro1362=) c.4047A>C (p.Pro1349=) c.3771A>C (p.Pro1257=) c.3732A>C (p.Pro1244=) c.4122A>C (p.Pro1374=) c.4029A>C (p.Pro1343=) c.3504A>C (p.Pro1168=) c.3819A>C (p.Pro1273=) n.8391A>C | |
3 | g.9475770A>G | CA432528491 | SETD5 | n.2963A>G c.4104A>G (p.Pro1368=) n.4997A>G n.2388A>G n.6250A>G c.4008A>G (p.Pro1336=) c.*4154A>G (n.*4154A>G) c.*4077A>G (n.*4077A>G) c.*4382A>G (n.*4382A>G) c.*4113A>G (n.*4113A>G) c.3714A>G (p.Pro1238=) c.2722+614A>G c.4065A>G (p.Pro1355=) c.3044A>G n.3349A>G n.4172A>G c.4182A>G (p.Pro1394=) c.4161A>G (p.Pro1387=) c.4143A>G (p.Pro1381=) c.4125A>G (p.Pro1375=) c.4086A>G (p.Pro1362=) c.4047A>G (p.Pro1349=) c.3771A>G (p.Pro1257=) c.3732A>G (p.Pro1244=) c.4122A>G (p.Pro1374=) c.4029A>G (p.Pro1343=) c.3504A>G (p.Pro1168=) c.3819A>G (p.Pro1273=) n.8391A>G | |
3 | g.9475770A>T | CA432528493 | SETD5 | n.2963A>T c.4104A>T (p.Pro1368=) n.4997A>T n.2388A>T n.6250A>T c.4008A>T (p.Pro1336=) c.*4154A>T (n.*4154A>T) c.*4077A>T (n.*4077A>T) c.*4382A>T (n.*4382A>T) c.*4113A>T (n.*4113A>T) c.3714A>T (p.Pro1238=) c.2722+614A>T c.4065A>T (p.Pro1355=) c.3044A>T n.3349A>T n.4172A>T c.4182A>T (p.Pro1394=) c.4161A>T (p.Pro1387=) c.4143A>T (p.Pro1381=) c.4125A>T (p.Pro1375=) c.4086A>T (p.Pro1362=) c.4047A>T (p.Pro1349=) c.3771A>T (p.Pro1257=) c.3732A>T (p.Pro1244=) c.4122A>T (p.Pro1374=) c.4029A>T (p.Pro1343=) c.3504A>T (p.Pro1168=) c.3819A>T (p.Pro1273=) n.8391A>T | |
3 | g.9475771A>C | CA432528495 | SETD5 | n.2964A>C c.4105A>C (p.Arg1369=) n.4998A>C n.2389A>C n.6251A>C c.4009A>C (p.Arg1337=) c.*4155A>C (n.*4155A>C) c.*4078A>C (n.*4078A>C) c.*4383A>C (n.*4383A>C) c.*4114A>C (n.*4114A>C) c.3715A>C (p.Arg1239=) c.2722+615A>C c.4066A>C (p.Arg1356=) c.3045A>C n.3350A>C n.4173A>C c.4183A>C (p.Arg1395=) c.4162A>C (p.Arg1388=) c.4144A>C (p.Arg1382=) c.4126A>C (p.Arg1376=) c.4087A>C (p.Arg1363=) c.4048A>C (p.Arg1350=) c.3772A>C (p.Arg1258=) c.3733A>C (p.Arg1245=) c.4123A>C (p.Arg1375=) c.4030A>C (p.Arg1344=) c.3505A>C (p.Arg1169=) c.3820A>C (p.Arg1274=) n.8392A>C | |
3 | g.9475771A>G | CA351693663 | SETD5 | n.2964A>G c.4105A>G (p.Arg1369Gly) n.4998A>G n.2389A>G n.6251A>G c.4009A>G (p.Arg1337Gly) c.*4155A>G (n.*4155A>G) c.*4078A>G (n.*4078A>G) c.*4383A>G (n.*4383A>G) c.*4114A>G (n.*4114A>G) c.3715A>G (p.Arg1239Gly) c.2722+615A>G c.4066A>G (p.Arg1356Gly) c.3045A>G n.3350A>G n.4173A>G c.4183A>G (p.Arg1395Gly) c.4162A>G (p.Arg1388Gly) c.4144A>G (p.Arg1382Gly) c.4126A>G (p.Arg1376Gly) c.4087A>G (p.Arg1363Gly) c.4048A>G (p.Arg1350Gly) c.3772A>G (p.Arg1258Gly) c.3733A>G (p.Arg1245Gly) c.4123A>G (p.Arg1375Gly) c.4030A>G (p.Arg1344Gly) c.3505A>G (p.Arg1169Gly) c.3820A>G (p.Arg1274Gly) n.8392A>G | |
3 | g.9475771A>T | CA351693667 | SETD5 | n.2964A>T c.4105A>T (p.Arg1369Trp) n.4998A>T n.2389A>T n.6251A>T c.4009A>T (p.Arg1337Trp) c.*4155A>T (n.*4155A>T) c.*4078A>T (n.*4078A>T) c.*4383A>T (n.*4383A>T) c.*4114A>T (n.*4114A>T) c.3715A>T (p.Arg1239Trp) c.2722+615A>T c.4066A>T (p.Arg1356Trp) c.3045A>T n.3350A>T n.4173A>T c.4183A>T (p.Arg1395Trp) c.4162A>T (p.Arg1388Trp) c.4144A>T (p.Arg1382Trp) c.4126A>T (p.Arg1376Trp) c.4087A>T (p.Arg1363Trp) c.4048A>T (p.Arg1350Trp) c.3772A>T (p.Arg1258Trp) c.3733A>T (p.Arg1245Trp) c.4123A>T (p.Arg1375Trp) c.4030A>T (p.Arg1344Trp) c.3505A>T (p.Arg1169Trp) c.3820A>T (p.Arg1274Trp) n.8392A>T | |
3 | g.9475772G>A | CA351693671 | SETD5 | n.2965G>A c.4106G>A (p.Arg1369Lys) n.4999G>A n.2390G>A n.6252G>A c.4010G>A (p.Arg1337Lys) c.*4156G>A (n.*4156G>A) c.*4079G>A (n.*4079G>A) c.*4384G>A (n.*4384G>A) c.*4115G>A (n.*4115G>A) c.3716G>A (p.Arg1239Lys) c.2722+616G>A c.4067G>A (p.Arg1356Lys) c.3046G>A n.3351G>A n.4174G>A c.4184G>A (p.Arg1395Lys) c.4163G>A (p.Arg1388Lys) c.4145G>A (p.Arg1382Lys) c.4127G>A (p.Arg1376Lys) c.4088G>A (p.Arg1363Lys) c.4049G>A (p.Arg1350Lys) c.3773G>A (p.Arg1258Lys) c.3734G>A (p.Arg1245Lys) c.4124G>A (p.Arg1375Lys) c.4031G>A (p.Arg1344Lys) c.3506G>A (p.Arg1169Lys) c.3821G>A (p.Arg1274Lys) n.8393G>A | gnomAD v4 |
3 | g.9475772G>C | CA351693675 | SETD5 | n.2965G>C c.4106G>C (p.Arg1369Thr) n.4999G>C n.2390G>C n.6252G>C c.4010G>C (p.Arg1337Thr) c.*4156G>C (n.*4156G>C) c.*4079G>C (n.*4079G>C) c.*4384G>C (n.*4384G>C) c.*4115G>C (n.*4115G>C) c.3716G>C (p.Arg1239Thr) c.2722+616G>C c.4067G>C (p.Arg1356Thr) c.3046G>C n.3351G>C n.4174G>C c.4184G>C (p.Arg1395Thr) c.4163G>C (p.Arg1388Thr) c.4145G>C (p.Arg1382Thr) c.4127G>C (p.Arg1376Thr) c.4088G>C (p.Arg1363Thr) c.4049G>C (p.Arg1350Thr) c.3773G>C (p.Arg1258Thr) c.3734G>C (p.Arg1245Thr) c.4124G>C (p.Arg1375Thr) c.4031G>C (p.Arg1344Thr) c.3506G>C (p.Arg1169Thr) c.3821G>C (p.Arg1274Thr) n.8393G>C | |
3 | g.9475772G>T | CA351693680 | SETD5 | n.2965G>T c.4106G>T (p.Arg1369Met) n.4999G>T n.2390G>T n.6252G>T c.4010G>T (p.Arg1337Met) c.*4156G>T (n.*4156G>T) c.*4079G>T (n.*4079G>T) c.*4384G>T (n.*4384G>T) c.*4115G>T (n.*4115G>T) c.3716G>T (p.Arg1239Met) c.2722+616G>T c.4067G>T (p.Arg1356Met) c.3046G>T n.3351G>T n.4174G>T c.4184G>T (p.Arg1395Met) c.4163G>T (p.Arg1388Met) c.4145G>T (p.Arg1382Met) c.4127G>T (p.Arg1376Met) c.4088G>T (p.Arg1363Met) c.4049G>T (p.Arg1350Met) c.3773G>T (p.Arg1258Met) c.3734G>T (p.Arg1245Met) c.4124G>T (p.Arg1375Met) c.4031G>T (p.Arg1344Met) c.3506G>T (p.Arg1169Met) c.3821G>T (p.Arg1274Met) n.8393G>T | |
3 | g.9475773G>A | CA432528498 | SETD5 | n.2966G>A c.4107G>A (p.Arg1369=) n.5000G>A n.2391G>A n.6253G>A c.4011G>A (p.Arg1337=) c.*4157G>A (n.*4157G>A) c.*4080G>A (n.*4080G>A) c.*4385G>A (n.*4385G>A) c.*4116G>A (n.*4116G>A) c.3717G>A (p.Arg1239=) c.2722+617G>A c.4068G>A (p.Arg1356=) c.3047G>A n.3352G>A n.4175G>A c.4185G>A (p.Arg1395=) c.4164G>A (p.Arg1388=) c.4146G>A (p.Arg1382=) c.4128G>A (p.Arg1376=) c.4089G>A (p.Arg1363=) c.4050G>A (p.Arg1350=) c.3774G>A (p.Arg1258=) c.3735G>A (p.Arg1245=) c.4125G>A (p.Arg1375=) c.4032G>A (p.Arg1344=) c.3507G>A (p.Arg1169=) c.3822G>A (p.Arg1274=) n.8394G>A | |
3 | g.9475773G>C | CA351693684 | SETD5 | n.2966G>C c.4107G>C (p.Arg1369Ser) n.5000G>C n.2391G>C n.6253G>C c.4011G>C (p.Arg1337Ser) c.*4157G>C (n.*4157G>C) c.*4080G>C (n.*4080G>C) c.*4385G>C (n.*4385G>C) c.*4116G>C (n.*4116G>C) c.3717G>C (p.Arg1239Ser) c.2722+617G>C c.4068G>C (p.Arg1356Ser) c.3047G>C n.3352G>C n.4175G>C c.4185G>C (p.Arg1395Ser) c.4164G>C (p.Arg1388Ser) c.4146G>C (p.Arg1382Ser) c.4128G>C (p.Arg1376Ser) c.4089G>C (p.Arg1363Ser) c.4050G>C (p.Arg1350Ser) c.3774G>C (p.Arg1258Ser) c.3735G>C (p.Arg1245Ser) c.4125G>C (p.Arg1375Ser) c.4032G>C (p.Arg1344Ser) c.3507G>C (p.Arg1169Ser) c.3822G>C (p.Arg1274Ser) n.8394G>C | dbSNP gnomAD v3 gnomAD v4 |
3 | g.9475773G= | CA1344742796 | SETD5 | n.2966G= c.4107G= (p.Arg1369=) n.5000G= n.2391G= n.6253G= c.4011G= (p.Arg1337=) c.*4157G= (n.*4157G=) c.*4080G= (n.*4080G=) c.*4385G= (n.*4385G=) c.*4116G= (n.*4116G=) c.3717G= (p.Arg1239=) c.2722+617G= c.4068G= (p.Arg1356=) c.3047G= n.3352G= n.4175G= c.4185G= (p.Arg1395=) c.4164G= (p.Arg1388=) c.4146G= (p.Arg1382=) c.4128G= (p.Arg1376=) c.4089G= (p.Arg1363=) c.4050G= (p.Arg1350=) c.3774G= (p.Arg1258=) c.3735G= (p.Arg1245=) c.4125G= (p.Arg1375=) c.4032G= (p.Arg1344=) c.3507G= (p.Arg1169=) c.3822G= (p.Arg1274=) n.8394G= | |
3 | g.9475773G>T | CA351693687 | SETD5 | n.2966G>T c.4107G>T (p.Arg1369Ser) n.5000G>T n.2391G>T n.6253G>T c.4011G>T (p.Arg1337Ser) c.*4157G>T (n.*4157G>T) c.*4080G>T (n.*4080G>T) c.*4385G>T (n.*4385G>T) c.*4116G>T (n.*4116G>T) c.3717G>T (p.Arg1239Ser) c.2722+617G>T c.4068G>T (p.Arg1356Ser) c.3047G>T n.3352G>T n.4175G>T c.4185G>T (p.Arg1395Ser) c.4164G>T (p.Arg1388Ser) c.4146G>T (p.Arg1382Ser) c.4128G>T (p.Arg1376Ser) c.4089G>T (p.Arg1363Ser) c.4050G>T (p.Arg1350Ser) c.3774G>T (p.Arg1258Ser) c.3735G>T (p.Arg1245Ser) c.4125G>T (p.Arg1375Ser) c.4032G>T (p.Arg1344Ser) c.3507G>T (p.Arg1169Ser) c.3822G>T (p.Arg1274Ser) n.8394G>T |