Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.9475576_9475578delinsTAC | CA1344742430 | SETD5 | n.2769_2771delinsTAC c.3910_3912delinsTAC (p.Tyr1304=) n.4803_4805delinsTAC n.2194_2196delinsTAC n.6611_6613delinsTAC n.6056_6058delinsTAC c.3814_3816delinsTAC (p.Tyr1272=) c.*3960_*3962delinsTAC (n.*3960_*3962delinsTAC) c.*3883_*3885delinsTAC (n.*3883_*3885delinsTAC) c.*4188_*4190delinsTAC (n.*4188_*4190delinsTAC) c.*3919_*3921delinsTAC (n.*3919_*3921delinsTAC) c.3520_3522delinsTAC (p.Tyr1174=) c.2722+420_2722+422delinsTAC c.3871_3873delinsTAC (p.Tyr1291=) c.2850_2852delinsTAC n.945_947delinsTAC n.3155_3157delinsTAC n.201_203delinsTAC n.3978_3980delinsTAC c.3988_3990delinsTAC (p.Tyr1330=) c.3967_3969delinsTAC (p.Tyr1323=) c.3949_3951delinsTAC (p.Tyr1317=) c.3931_3933delinsTAC (p.Tyr1311=) c.3892_3894delinsTAC (p.Tyr1298=) c.3853_3855delinsTAC (p.Tyr1285=) c.3577_3579delinsTAC (p.Tyr1193=) c.3538_3540delinsTAC (p.Tyr1180=) c.3928_3930delinsTAC (p.Tyr1310=) c.3835_3837delinsTAC (p.Tyr1279=) c.3310_3312delinsTAC (p.Tyr1104=) c.3625_3627delinsTAC (p.Tyr1209=) n.8197_8199delinsTAC | |
3 | g.9475577A>C | CA351691255 | SETD5 | n.2770A>C c.3911A>C (p.Tyr1304Ser) n.4804A>C n.2195A>C n.6612A>C n.6057A>C c.3815A>C (p.Tyr1272Ser) c.*3961A>C (n.*3961A>C) c.*3884A>C (n.*3884A>C) c.*4189A>C (n.*4189A>C) c.*3920A>C (n.*3920A>C) c.3521A>C (p.Tyr1174Ser) c.2722+421A>C c.3872A>C (p.Tyr1291Ser) c.2851A>C n.946A>C n.3156A>C n.202A>C n.3979A>C c.3989A>C (p.Tyr1330Ser) c.3968A>C (p.Tyr1323Ser) c.3950A>C (p.Tyr1317Ser) c.3932A>C (p.Tyr1311Ser) c.3893A>C (p.Tyr1298Ser) c.3854A>C (p.Tyr1285Ser) c.3578A>C (p.Tyr1193Ser) c.3539A>C (p.Tyr1180Ser) c.3929A>C (p.Tyr1310Ser) c.3836A>C (p.Tyr1279Ser) c.3311A>C (p.Tyr1104Ser) c.3626A>C (p.Tyr1209Ser) n.8198A>C | |
3 | g.9475577A>G | CA351691260 | SETD5 | n.2770A>G c.3911A>G (p.Tyr1304Cys) n.4804A>G n.2195A>G n.6612A>G n.6057A>G c.3815A>G (p.Tyr1272Cys) c.*3961A>G (n.*3961A>G) c.*3884A>G (n.*3884A>G) c.*4189A>G (n.*4189A>G) c.*3920A>G (n.*3920A>G) c.3521A>G (p.Tyr1174Cys) c.2722+421A>G c.3872A>G (p.Tyr1291Cys) c.2851A>G n.946A>G n.3156A>G n.202A>G n.3979A>G c.3989A>G (p.Tyr1330Cys) c.3968A>G (p.Tyr1323Cys) c.3950A>G (p.Tyr1317Cys) c.3932A>G (p.Tyr1311Cys) c.3893A>G (p.Tyr1298Cys) c.3854A>G (p.Tyr1285Cys) c.3578A>G (p.Tyr1193Cys) c.3539A>G (p.Tyr1180Cys) c.3929A>G (p.Tyr1310Cys) c.3836A>G (p.Tyr1279Cys) c.3311A>G (p.Tyr1104Cys) c.3626A>G (p.Tyr1209Cys) n.8198A>G | |
3 | g.9475577A>T | CA351691262 | SETD5 | n.2770A>T c.3911A>T (p.Tyr1304Phe) n.4804A>T n.2195A>T n.6612A>T n.6057A>T c.3815A>T (p.Tyr1272Phe) c.*3961A>T (n.*3961A>T) c.*3884A>T (n.*3884A>T) c.*4189A>T (n.*4189A>T) c.*3920A>T (n.*3920A>T) c.3521A>T (p.Tyr1174Phe) c.2722+421A>T c.3872A>T (p.Tyr1291Phe) c.2851A>T n.946A>T n.3156A>T n.202A>T n.3979A>T c.3989A>T (p.Tyr1330Phe) c.3968A>T (p.Tyr1323Phe) c.3950A>T (p.Tyr1317Phe) c.3932A>T (p.Tyr1311Phe) c.3893A>T (p.Tyr1298Phe) c.3854A>T (p.Tyr1285Phe) c.3578A>T (p.Tyr1193Phe) c.3539A>T (p.Tyr1180Phe) c.3929A>T (p.Tyr1310Phe) c.3836A>T (p.Tyr1279Phe) c.3311A>T (p.Tyr1104Phe) c.3626A>T (p.Tyr1209Phe) n.8198A>T | |
3 | g.9475578_9475579del | CA912791089 | SETD5 | n.2771_2772del c.3912_3913del (p.Tyr1304Ter) n.4805_4806del n.2196_2197del n.6613_6614del n.6058_6059del c.3816_3817del (p.Tyr1272Ter) c.*3962_*3963del (n.*3962_*3963del) c.*3885_*3886del (n.*3885_*3886del) c.*4190_*4191del (n.*4190_*4191del) c.*3921_*3922del (n.*3921_*3922del) c.3522_3523del (p.Tyr1174Ter) c.2722+422_2722+423del c.3873_3874del (p.Tyr1291Ter) c.2852_2853del n.947_948del n.3157_3158del n.203_204del n.3980_3981del c.3990_3991del (p.Tyr1330Ter) c.3969_3970del (p.Tyr1323Ter) c.3951_3952del (p.Tyr1317Ter) c.3933_3934del (p.Tyr1311Ter) c.3894_3895del (p.Tyr1298Ter) c.3855_3856del (p.Tyr1285Ter) c.3579_3580del (p.Tyr1193Ter) c.3540_3541del (p.Tyr1180Ter) c.3930_3931del (p.Tyr1310Ter) c.3837_3838del (p.Tyr1279Ter) c.3312_3313del (p.Tyr1104Ter) c.3627_3628del (p.Tyr1209Ter) n.8199_8200del | dbSNP |
3 | g.9475578C>A | CA351691264 | SETD5 | n.2771C>A c.3912C>A (p.Tyr1304Ter) n.4805C>A n.2196C>A n.6613C>A n.6058C>A c.3816C>A (p.Tyr1272Ter) c.*3962C>A (n.*3962C>A) c.*3885C>A (n.*3885C>A) c.*4190C>A (n.*4190C>A) c.*3921C>A (n.*3921C>A) c.3522C>A (p.Tyr1174Ter) c.2722+422C>A c.3873C>A (p.Tyr1291Ter) c.2852C>A n.947C>A n.3157C>A n.203C>A n.3980C>A c.3990C>A (p.Tyr1330Ter) c.3969C>A (p.Tyr1323Ter) c.3951C>A (p.Tyr1317Ter) c.3933C>A (p.Tyr1311Ter) c.3894C>A (p.Tyr1298Ter) c.3855C>A (p.Tyr1285Ter) c.3579C>A (p.Tyr1193Ter) c.3540C>A (p.Tyr1180Ter) c.3930C>A (p.Tyr1310Ter) c.3837C>A (p.Tyr1279Ter) c.3312C>A (p.Tyr1104Ter) c.3627C>A (p.Tyr1209Ter) n.8199C>A | |
3 | g.9475578C= | CA1344742435 | SETD5 | n.2771C= c.3912C= (p.Tyr1304=) n.4805C= n.2196C= n.6613C= n.6058C= c.3816C= (p.Tyr1272=) c.*3962C= (n.*3962C=) c.*3885C= (n.*3885C=) c.*4190C= (n.*4190C=) c.*3921C= (n.*3921C=) c.3522C= (p.Tyr1174=) c.2722+422C= c.3873C= (p.Tyr1291=) c.2852C= n.947C= n.3157C= n.203C= n.3980C= c.3990C= (p.Tyr1330=) c.3969C= (p.Tyr1323=) c.3951C= (p.Tyr1317=) c.3933C= (p.Tyr1311=) c.3894C= (p.Tyr1298=) c.3855C= (p.Tyr1285=) c.3579C= (p.Tyr1193=) c.3540C= (p.Tyr1180=) c.3930C= (p.Tyr1310=) c.3837C= (p.Tyr1279=) c.3312C= (p.Tyr1104=) c.3627C= (p.Tyr1209=) n.8199C= | |
3 | g.9475578C>G | CA351691267 | SETD5 | n.2771C>G c.3912C>G (p.Tyr1304Ter) n.4805C>G n.2196C>G n.6613C>G n.6058C>G c.3816C>G (p.Tyr1272Ter) c.*3962C>G (n.*3962C>G) c.*3885C>G (n.*3885C>G) c.*4190C>G (n.*4190C>G) c.*3921C>G (n.*3921C>G) c.3522C>G (p.Tyr1174Ter) c.2722+422C>G c.3873C>G (p.Tyr1291Ter) c.2852C>G n.947C>G n.3157C>G n.203C>G n.3980C>G c.3990C>G (p.Tyr1330Ter) c.3969C>G (p.Tyr1323Ter) c.3951C>G (p.Tyr1317Ter) c.3933C>G (p.Tyr1311Ter) c.3894C>G (p.Tyr1298Ter) c.3855C>G (p.Tyr1285Ter) c.3579C>G (p.Tyr1193Ter) c.3540C>G (p.Tyr1180Ter) c.3930C>G (p.Tyr1310Ter) c.3837C>G (p.Tyr1279Ter) c.3312C>G (p.Tyr1104Ter) c.3627C>G (p.Tyr1209Ter) n.8199C>G | |
3 | g.9475578C>T | CA432528520 | SETD5 | n.2771C>T c.3912C>T (p.Tyr1304=) n.4805C>T n.2196C>T n.6613C>T n.6058C>T c.3816C>T (p.Tyr1272=) c.*3962C>T (n.*3962C>T) c.*3885C>T (n.*3885C>T) c.*4190C>T (n.*4190C>T) c.*3921C>T (n.*3921C>T) c.3522C>T (p.Tyr1174=) c.2722+422C>T c.3873C>T (p.Tyr1291=) c.2852C>T n.947C>T n.3157C>T n.203C>T n.3980C>T c.3990C>T (p.Tyr1330=) c.3969C>T (p.Tyr1323=) c.3951C>T (p.Tyr1317=) c.3933C>T (p.Tyr1311=) c.3894C>T (p.Tyr1298=) c.3855C>T (p.Tyr1285=) c.3579C>T (p.Tyr1193=) c.3540C>T (p.Tyr1180=) c.3930C>T (p.Tyr1310=) c.3837C>T (p.Tyr1279=) c.3312C>T (p.Tyr1104=) c.3627C>T (p.Tyr1209=) n.8199C>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.9475579A= | CA1344742438 | SETD5 | n.2772A= c.3913A= (p.Ser1305=) n.4806A= n.2197A= n.6614A= n.6059A= c.3817A= (p.Ser1273=) c.*3963A= (n.*3963A=) c.*3886A= (n.*3886A=) c.*4191A= (n.*4191A=) c.*3922A= (n.*3922A=) c.3523A= (p.Ser1175=) c.2722+423A= c.3874A= (p.Ser1292=) c.2853A= n.948A= n.3158A= n.204A= n.3981A= c.3991A= (p.Ser1331=) c.3970A= (p.Ser1324=) c.3952A= (p.Ser1318=) c.3934A= (p.Ser1312=) c.3895A= (p.Ser1299=) c.3856A= (p.Ser1286=) c.3580A= (p.Ser1194=) c.3541A= (p.Ser1181=) c.3931A= (p.Ser1311=) c.3838A= (p.Ser1280=) c.3313A= (p.Ser1105=) c.3628A= (p.Ser1210=) n.8200A= | |
3 | g.9475579A>C | CA2239804 | SETD5 | n.2772A>C c.3913A>C (p.Ser1305Arg) n.4806A>C n.2197A>C n.6614A>C n.6059A>C c.3817A>C (p.Ser1273Arg) c.*3963A>C (n.*3963A>C) c.*3886A>C (n.*3886A>C) c.*4191A>C (n.*4191A>C) c.*3922A>C (n.*3922A>C) c.3523A>C (p.Ser1175Arg) c.2722+423A>C c.3874A>C (p.Ser1292Arg) c.2853A>C n.948A>C n.3158A>C n.204A>C n.3981A>C c.3991A>C (p.Ser1331Arg) c.3970A>C (p.Ser1324Arg) c.3952A>C (p.Ser1318Arg) c.3934A>C (p.Ser1312Arg) c.3895A>C (p.Ser1299Arg) c.3856A>C (p.Ser1286Arg) c.3580A>C (p.Ser1194Arg) c.3541A>C (p.Ser1181Arg) c.3931A>C (p.Ser1311Arg) c.3838A>C (p.Ser1280Arg) c.3313A>C (p.Ser1105Arg) c.3628A>C (p.Ser1210Arg) n.8200A>C | dbSNP ExAC gnomAD v2 |
3 | g.9475579A>G | CA351691272 | SETD5 | n.2772A>G c.3913A>G (p.Ser1305Gly) n.4806A>G n.2197A>G n.6614A>G n.6059A>G c.3817A>G (p.Ser1273Gly) c.*3963A>G (n.*3963A>G) c.*3886A>G (n.*3886A>G) c.*4191A>G (n.*4191A>G) c.*3922A>G (n.*3922A>G) c.3523A>G (p.Ser1175Gly) c.2722+423A>G c.3874A>G (p.Ser1292Gly) c.2853A>G n.948A>G n.3158A>G n.204A>G n.3981A>G c.3991A>G (p.Ser1331Gly) c.3970A>G (p.Ser1324Gly) c.3952A>G (p.Ser1318Gly) c.3934A>G (p.Ser1312Gly) c.3895A>G (p.Ser1299Gly) c.3856A>G (p.Ser1286Gly) c.3580A>G (p.Ser1194Gly) c.3541A>G (p.Ser1181Gly) c.3931A>G (p.Ser1311Gly) c.3838A>G (p.Ser1280Gly) c.3313A>G (p.Ser1105Gly) c.3628A>G (p.Ser1210Gly) n.8200A>G | dbSNP gnomAD v4 |
3 | g.9475579A>T | CA351691277 | SETD5 | n.2772A>T c.3913A>T (p.Ser1305Cys) n.4806A>T n.2197A>T n.6614A>T n.6059A>T c.3817A>T (p.Ser1273Cys) c.*3963A>T (n.*3963A>T) c.*3886A>T (n.*3886A>T) c.*4191A>T (n.*4191A>T) c.*3922A>T (n.*3922A>T) c.3523A>T (p.Ser1175Cys) c.2722+423A>T c.3874A>T (p.Ser1292Cys) c.2853A>T n.948A>T n.3158A>T n.204A>T n.3981A>T c.3991A>T (p.Ser1331Cys) c.3970A>T (p.Ser1324Cys) c.3952A>T (p.Ser1318Cys) c.3934A>T (p.Ser1312Cys) c.3895A>T (p.Ser1299Cys) c.3856A>T (p.Ser1286Cys) c.3580A>T (p.Ser1194Cys) c.3541A>T (p.Ser1181Cys) c.3931A>T (p.Ser1311Cys) c.3838A>T (p.Ser1280Cys) c.3313A>T (p.Ser1105Cys) c.3628A>T (p.Ser1210Cys) n.8200A>T | |
3 | g.9475580G>A | CA351691281 | SETD5 | n.2773G>A c.3914G>A (p.Ser1305Asn) n.4807G>A n.2198G>A n.6615G>A n.6060G>A c.3818G>A (p.Ser1273Asn) c.*3964G>A (n.*3964G>A) c.*3887G>A (n.*3887G>A) c.*4192G>A (n.*4192G>A) c.*3923G>A (n.*3923G>A) c.3524G>A (p.Ser1175Asn) c.2722+424G>A c.3875G>A (p.Ser1292Asn) c.2854G>A n.949G>A n.3159G>A n.205G>A n.3982G>A c.3992G>A (p.Ser1331Asn) c.3971G>A (p.Ser1324Asn) c.3953G>A (p.Ser1318Asn) c.3935G>A (p.Ser1312Asn) c.3896G>A (p.Ser1299Asn) c.3857G>A (p.Ser1286Asn) c.3581G>A (p.Ser1194Asn) c.3542G>A (p.Ser1181Asn) c.3932G>A (p.Ser1311Asn) c.3839G>A (p.Ser1280Asn) c.3314G>A (p.Ser1105Asn) c.3629G>A (p.Ser1210Asn) n.8201G>A | |
3 | g.9475580G>C | CA351691284 | SETD5 | n.2773G>C c.3914G>C (p.Ser1305Thr) n.4807G>C n.2198G>C n.6615G>C n.6060G>C c.3818G>C (p.Ser1273Thr) c.*3964G>C (n.*3964G>C) c.*3887G>C (n.*3887G>C) c.*4192G>C (n.*4192G>C) c.*3923G>C (n.*3923G>C) c.3524G>C (p.Ser1175Thr) c.2722+424G>C c.3875G>C (p.Ser1292Thr) c.2854G>C n.949G>C n.3159G>C n.205G>C n.3982G>C c.3992G>C (p.Ser1331Thr) c.3971G>C (p.Ser1324Thr) c.3953G>C (p.Ser1318Thr) c.3935G>C (p.Ser1312Thr) c.3896G>C (p.Ser1299Thr) c.3857G>C (p.Ser1286Thr) c.3581G>C (p.Ser1194Thr) c.3542G>C (p.Ser1181Thr) c.3932G>C (p.Ser1311Thr) c.3839G>C (p.Ser1280Thr) c.3314G>C (p.Ser1105Thr) c.3629G>C (p.Ser1210Thr) n.8201G>C | |
3 | g.9475580G>T | CA351691287 | SETD5 | n.2773G>T c.3914G>T (p.Ser1305Ile) n.4807G>T n.2198G>T n.6615G>T n.6060G>T c.3818G>T (p.Ser1273Ile) c.*3964G>T (n.*3964G>T) c.*3887G>T (n.*3887G>T) c.*4192G>T (n.*4192G>T) c.*3923G>T (n.*3923G>T) c.3524G>T (p.Ser1175Ile) c.2722+424G>T c.3875G>T (p.Ser1292Ile) c.2854G>T n.949G>T n.3159G>T n.205G>T n.3982G>T c.3992G>T (p.Ser1331Ile) c.3971G>T (p.Ser1324Ile) c.3953G>T (p.Ser1318Ile) c.3935G>T (p.Ser1312Ile) c.3896G>T (p.Ser1299Ile) c.3857G>T (p.Ser1286Ile) c.3581G>T (p.Ser1194Ile) c.3542G>T (p.Ser1181Ile) c.3932G>T (p.Ser1311Ile) c.3839G>T (p.Ser1280Ile) c.3314G>T (p.Ser1105Ile) c.3629G>T (p.Ser1210Ile) n.8201G>T | |
3 | g.9475581T>A | CA351691294 | SETD5 | n.2774T>A c.3915T>A (p.Ser1305Arg) n.4808T>A n.2199T>A n.6616T>A n.6061T>A c.3819T>A (p.Ser1273Arg) c.*3965T>A (n.*3965T>A) c.*3888T>A (n.*3888T>A) c.*4193T>A (n.*4193T>A) c.*3924T>A (n.*3924T>A) c.3525T>A (p.Ser1175Arg) c.2722+425T>A c.3876T>A (p.Ser1292Arg) c.2855T>A n.950T>A n.3160T>A n.206T>A n.3983T>A c.3993T>A (p.Ser1331Arg) c.3972T>A (p.Ser1324Arg) c.3954T>A (p.Ser1318Arg) c.3936T>A (p.Ser1312Arg) c.3897T>A (p.Ser1299Arg) c.3858T>A (p.Ser1286Arg) c.3582T>A (p.Ser1194Arg) c.3543T>A (p.Ser1181Arg) c.3933T>A (p.Ser1311Arg) c.3840T>A (p.Ser1280Arg) c.3315T>A (p.Ser1105Arg) c.3630T>A (p.Ser1210Arg) n.8202T>A | |
3 | g.9475581T>C | CA2239805 | SETD5 | n.2774T>C c.3915T>C (p.Ser1305=) n.4808T>C n.2199T>C n.6616T>C n.6061T>C c.3819T>C (p.Ser1273=) c.*3965T>C (n.*3965T>C) c.*3888T>C (n.*3888T>C) c.*4193T>C (n.*4193T>C) c.*3924T>C (n.*3924T>C) c.3525T>C (p.Ser1175=) c.2722+425T>C c.3876T>C (p.Ser1292=) c.2855T>C n.950T>C n.3160T>C n.206T>C n.3983T>C c.3993T>C (p.Ser1331=) c.3972T>C (p.Ser1324=) c.3954T>C (p.Ser1318=) c.3936T>C (p.Ser1312=) c.3897T>C (p.Ser1299=) c.3858T>C (p.Ser1286=) c.3582T>C (p.Ser1194=) c.3543T>C (p.Ser1181=) c.3933T>C (p.Ser1311=) c.3840T>C (p.Ser1280=) c.3315T>C (p.Ser1105=) c.3630T>C (p.Ser1210=) n.8202T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475581T>G | CA351691304 | SETD5 | n.2774T>G c.3915T>G (p.Ser1305Arg) n.4808T>G n.2199T>G n.6616T>G n.6061T>G c.3819T>G (p.Ser1273Arg) c.*3965T>G (n.*3965T>G) c.*3888T>G (n.*3888T>G) c.*4193T>G (n.*4193T>G) c.*3924T>G (n.*3924T>G) c.3525T>G (p.Ser1175Arg) c.2722+425T>G c.3876T>G (p.Ser1292Arg) c.2855T>G n.950T>G n.3160T>G n.206T>G n.3983T>G c.3993T>G (p.Ser1331Arg) c.3972T>G (p.Ser1324Arg) c.3954T>G (p.Ser1318Arg) c.3936T>G (p.Ser1312Arg) c.3897T>G (p.Ser1299Arg) c.3858T>G (p.Ser1286Arg) c.3582T>G (p.Ser1194Arg) c.3543T>G (p.Ser1181Arg) c.3933T>G (p.Ser1311Arg) c.3840T>G (p.Ser1280Arg) c.3315T>G (p.Ser1105Arg) c.3630T>G (p.Ser1210Arg) n.8202T>G | |
3 | g.9475581T= | CA1344742443 | SETD5 | n.2774T= c.3915T= (p.Ser1305=) n.4808T= n.2199T= n.6616T= n.6061T= c.3819T= (p.Ser1273=) c.*3965T= (n.*3965T=) c.*3888T= (n.*3888T=) c.*4193T= (n.*4193T=) c.*3924T= (n.*3924T=) c.3525T= (p.Ser1175=) c.2722+425T= c.3876T= (p.Ser1292=) c.2855T= n.950T= n.3160T= n.206T= n.3983T= c.3993T= (p.Ser1331=) c.3972T= (p.Ser1324=) c.3954T= (p.Ser1318=) c.3936T= (p.Ser1312=) c.3897T= (p.Ser1299=) c.3858T= (p.Ser1286=) c.3582T= (p.Ser1194=) c.3543T= (p.Ser1181=) c.3933T= (p.Ser1311=) c.3840T= (p.Ser1280=) c.3315T= (p.Ser1105=) c.3630T= (p.Ser1210=) n.8202T= | |
3 | g.9475582T>A | CA351691309 | SETD5 | n.2775T>A c.3916T>A (p.Tyr1306Asn) n.4809T>A n.2200T>A n.6617T>A n.6062T>A c.3820T>A (p.Tyr1274Asn) c.*3966T>A (n.*3966T>A) c.*3889T>A (n.*3889T>A) c.*4194T>A (n.*4194T>A) c.*3925T>A (n.*3925T>A) c.3526T>A (p.Tyr1176Asn) c.2722+426T>A c.3877T>A (p.Tyr1293Asn) c.2856T>A n.951T>A n.3161T>A n.207T>A n.3984T>A c.3994T>A (p.Tyr1332Asn) c.3973T>A (p.Tyr1325Asn) c.3955T>A (p.Tyr1319Asn) c.3937T>A (p.Tyr1313Asn) c.3898T>A (p.Tyr1300Asn) c.3859T>A (p.Tyr1287Asn) c.3583T>A (p.Tyr1195Asn) c.3544T>A (p.Tyr1182Asn) c.3934T>A (p.Tyr1312Asn) c.3841T>A (p.Tyr1281Asn) c.3316T>A (p.Tyr1106Asn) c.3631T>A (p.Tyr1211Asn) n.8203T>A | |
3 | g.9475582T>C | CA351691312 | SETD5 | n.2775T>C c.3916T>C (p.Tyr1306His) n.4809T>C n.2200T>C n.6617T>C n.6062T>C c.3820T>C (p.Tyr1274His) c.*3966T>C (n.*3966T>C) c.*3889T>C (n.*3889T>C) c.*4194T>C (n.*4194T>C) c.*3925T>C (n.*3925T>C) c.3526T>C (p.Tyr1176His) c.2722+426T>C c.3877T>C (p.Tyr1293His) c.2856T>C n.951T>C n.3161T>C n.207T>C n.3984T>C c.3994T>C (p.Tyr1332His) c.3973T>C (p.Tyr1325His) c.3955T>C (p.Tyr1319His) c.3937T>C (p.Tyr1313His) c.3898T>C (p.Tyr1300His) c.3859T>C (p.Tyr1287His) c.3583T>C (p.Tyr1195His) c.3544T>C (p.Tyr1182His) c.3934T>C (p.Tyr1312His) c.3841T>C (p.Tyr1281His) c.3316T>C (p.Tyr1106His) c.3631T>C (p.Tyr1211His) n.8203T>C | |
3 | g.9475582T>G | CA351691308 | SETD5 | n.2775T>G c.3916T>G (p.Tyr1306Asp) n.4809T>G n.2200T>G n.6617T>G n.6062T>G c.3820T>G (p.Tyr1274Asp) c.*3966T>G (n.*3966T>G) c.*3889T>G (n.*3889T>G) c.*4194T>G (n.*4194T>G) c.*3925T>G (n.*3925T>G) c.3526T>G (p.Tyr1176Asp) c.2722+426T>G c.3877T>G (p.Tyr1293Asp) c.2856T>G n.951T>G n.3161T>G n.207T>G n.3984T>G c.3994T>G (p.Tyr1332Asp) c.3973T>G (p.Tyr1325Asp) c.3955T>G (p.Tyr1319Asp) c.3937T>G (p.Tyr1313Asp) c.3898T>G (p.Tyr1300Asp) c.3859T>G (p.Tyr1287Asp) c.3583T>G (p.Tyr1195Asp) c.3544T>G (p.Tyr1182Asp) c.3934T>G (p.Tyr1312Asp) c.3841T>G (p.Tyr1281Asp) c.3316T>G (p.Tyr1106Asp) c.3631T>G (p.Tyr1211Asp) n.8203T>G | |
3 | g.9475583A= | CA1344742446 | SETD5 | n.2776A= c.3917A= (p.Tyr1306=) n.4810A= n.2201A= n.6618A= n.6063A= c.3821A= (p.Tyr1274=) c.*3967A= (n.*3967A=) c.*3890A= (n.*3890A=) c.*4195A= (n.*4195A=) c.*3926A= (n.*3926A=) c.3527A= (p.Tyr1176=) c.2722+427A= c.3878A= (p.Tyr1293=) c.2857A= n.952A= n.3162A= n.208A= n.3985A= c.3995A= (p.Tyr1332=) c.3974A= (p.Tyr1325=) c.3956A= (p.Tyr1319=) c.3938A= (p.Tyr1313=) c.3899A= (p.Tyr1300=) c.3860A= (p.Tyr1287=) c.3584A= (p.Tyr1195=) c.3545A= (p.Tyr1182=) c.3935A= (p.Tyr1312=) c.3842A= (p.Tyr1281=) c.3317A= (p.Tyr1106=) c.3632A= (p.Tyr1211=) n.8204A= | |
3 | g.9475583A>C | CA351691322 | SETD5 | n.2776A>C c.3917A>C (p.Tyr1306Ser) n.4810A>C n.2201A>C n.6618A>C n.6063A>C c.3821A>C (p.Tyr1274Ser) c.*3967A>C (n.*3967A>C) c.*3890A>C (n.*3890A>C) c.*4195A>C (n.*4195A>C) c.*3926A>C (n.*3926A>C) c.3527A>C (p.Tyr1176Ser) c.2722+427A>C c.3878A>C (p.Tyr1293Ser) c.2857A>C n.952A>C n.3162A>C n.208A>C n.3985A>C c.3995A>C (p.Tyr1332Ser) c.3974A>C (p.Tyr1325Ser) c.3956A>C (p.Tyr1319Ser) c.3938A>C (p.Tyr1313Ser) c.3899A>C (p.Tyr1300Ser) c.3860A>C (p.Tyr1287Ser) c.3584A>C (p.Tyr1195Ser) c.3545A>C (p.Tyr1182Ser) c.3935A>C (p.Tyr1312Ser) c.3842A>C (p.Tyr1281Ser) c.3317A>C (p.Tyr1106Ser) c.3632A>C (p.Tyr1211Ser) n.8204A>C | |
3 | g.9475583A>G | CA2239806 | SETD5 | n.2776A>G c.3917A>G (p.Tyr1306Cys) n.4810A>G n.2201A>G n.6618A>G n.6063A>G c.3821A>G (p.Tyr1274Cys) c.*3967A>G (n.*3967A>G) c.*3890A>G (n.*3890A>G) c.*4195A>G (n.*4195A>G) c.*3926A>G (n.*3926A>G) c.3527A>G (p.Tyr1176Cys) c.2722+427A>G c.3878A>G (p.Tyr1293Cys) c.2857A>G n.952A>G n.3162A>G n.208A>G n.3985A>G c.3995A>G (p.Tyr1332Cys) c.3974A>G (p.Tyr1325Cys) c.3956A>G (p.Tyr1319Cys) c.3938A>G (p.Tyr1313Cys) c.3899A>G (p.Tyr1300Cys) c.3860A>G (p.Tyr1287Cys) c.3584A>G (p.Tyr1195Cys) c.3545A>G (p.Tyr1182Cys) c.3935A>G (p.Tyr1312Cys) c.3842A>G (p.Tyr1281Cys) c.3317A>G (p.Tyr1106Cys) c.3632A>G (p.Tyr1211Cys) n.8204A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475583A>T | CA351691324 | SETD5 | n.2776A>T c.3917A>T (p.Tyr1306Phe) n.4810A>T n.2201A>T n.6618A>T n.6063A>T c.3821A>T (p.Tyr1274Phe) c.*3967A>T (n.*3967A>T) c.*3890A>T (n.*3890A>T) c.*4195A>T (n.*4195A>T) c.*3926A>T (n.*3926A>T) c.3527A>T (p.Tyr1176Phe) c.2722+427A>T c.3878A>T (p.Tyr1293Phe) c.2857A>T n.952A>T n.3162A>T n.208A>T n.3985A>T c.3995A>T (p.Tyr1332Phe) c.3974A>T (p.Tyr1325Phe) c.3956A>T (p.Tyr1319Phe) c.3938A>T (p.Tyr1313Phe) c.3899A>T (p.Tyr1300Phe) c.3860A>T (p.Tyr1287Phe) c.3584A>T (p.Tyr1195Phe) c.3545A>T (p.Tyr1182Phe) c.3935A>T (p.Tyr1312Phe) c.3842A>T (p.Tyr1281Phe) c.3317A>T (p.Tyr1106Phe) c.3632A>T (p.Tyr1211Phe) n.8204A>T | |
3 | g.9475584T>A | CA351691326 | SETD5 | n.2777T>A c.3918T>A (p.Tyr1306Ter) n.4811T>A n.2202T>A n.6619T>A n.6064T>A c.3822T>A (p.Tyr1274Ter) c.*3968T>A (n.*3968T>A) c.*3891T>A (n.*3891T>A) c.*4196T>A (n.*4196T>A) c.*3927T>A (n.*3927T>A) c.3528T>A (p.Tyr1176Ter) c.2722+428T>A c.3879T>A (p.Tyr1293Ter) c.2858T>A n.953T>A n.3163T>A n.209T>A n.3986T>A c.3996T>A (p.Tyr1332Ter) c.3975T>A (p.Tyr1325Ter) c.3957T>A (p.Tyr1319Ter) c.3939T>A (p.Tyr1313Ter) c.3900T>A (p.Tyr1300Ter) c.3861T>A (p.Tyr1287Ter) c.3585T>A (p.Tyr1195Ter) c.3546T>A (p.Tyr1182Ter) c.3936T>A (p.Tyr1312Ter) c.3843T>A (p.Tyr1281Ter) c.3318T>A (p.Tyr1106Ter) c.3633T>A (p.Tyr1211Ter) n.8205T>A | |
3 | g.9475584T>C | CA2239807 | SETD5 | n.2777T>C c.3918T>C (p.Tyr1306=) n.4811T>C n.2202T>C n.6619T>C n.6064T>C c.3822T>C (p.Tyr1274=) c.*3968T>C (n.*3968T>C) c.*3891T>C (n.*3891T>C) c.*4196T>C (n.*4196T>C) c.*3927T>C (n.*3927T>C) c.3528T>C (p.Tyr1176=) c.2722+428T>C c.3879T>C (p.Tyr1293=) c.2858T>C n.953T>C n.3163T>C n.209T>C n.3986T>C c.3996T>C (p.Tyr1332=) c.3975T>C (p.Tyr1325=) c.3957T>C (p.Tyr1319=) c.3939T>C (p.Tyr1313=) c.3900T>C (p.Tyr1300=) c.3861T>C (p.Tyr1287=) c.3585T>C (p.Tyr1195=) c.3546T>C (p.Tyr1182=) c.3936T>C (p.Tyr1312=) c.3843T>C (p.Tyr1281=) c.3318T>C (p.Tyr1106=) c.3633T>C (p.Tyr1211=) n.8205T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.9475584T>G | CA351691329 | SETD5 | n.2777T>G c.3918T>G (p.Tyr1306Ter) n.4811T>G n.2202T>G n.6619T>G n.6064T>G c.3822T>G (p.Tyr1274Ter) c.*3968T>G (n.*3968T>G) c.*3891T>G (n.*3891T>G) c.*4196T>G (n.*4196T>G) c.*3927T>G (n.*3927T>G) c.3528T>G (p.Tyr1176Ter) c.2722+428T>G c.3879T>G (p.Tyr1293Ter) c.2858T>G n.953T>G n.3163T>G n.209T>G n.3986T>G c.3996T>G (p.Tyr1332Ter) c.3975T>G (p.Tyr1325Ter) c.3957T>G (p.Tyr1319Ter) c.3939T>G (p.Tyr1313Ter) c.3900T>G (p.Tyr1300Ter) c.3861T>G (p.Tyr1287Ter) c.3585T>G (p.Tyr1195Ter) c.3546T>G (p.Tyr1182Ter) c.3936T>G (p.Tyr1312Ter) c.3843T>G (p.Tyr1281Ter) c.3318T>G (p.Tyr1106Ter) c.3633T>G (p.Tyr1211Ter) n.8205T>G | |
3 | g.9475584T= | CA1344742449 | SETD5 | n.2777T= c.3918T= (p.Tyr1306=) n.4811T= n.2202T= n.6619T= n.6064T= c.3822T= (p.Tyr1274=) c.*3968T= (n.*3968T=) c.*3891T= (n.*3891T=) c.*4196T= (n.*4196T=) c.*3927T= (n.*3927T=) c.3528T= (p.Tyr1176=) c.2722+428T= c.3879T= (p.Tyr1293=) c.2858T= n.953T= n.3163T= n.209T= n.3986T= c.3996T= (p.Tyr1332=) c.3975T= (p.Tyr1325=) c.3957T= (p.Tyr1319=) c.3939T= (p.Tyr1313=) c.3900T= (p.Tyr1300=) c.3861T= (p.Tyr1287=) c.3585T= (p.Tyr1195=) c.3546T= (p.Tyr1182=) c.3936T= (p.Tyr1312=) c.3843T= (p.Tyr1281=) c.3318T= (p.Tyr1106=) c.3633T= (p.Tyr1211=) n.8205T= | |
3 | g.9475585C>A | CA2239808 | SETD5 | n.2778C>A c.3919C>A (p.Arg1307=) n.4812C>A n.2203C>A n.6620C>A n.6065C>A c.3823C>A (p.Arg1275=) c.*3969C>A (n.*3969C>A) c.*3892C>A (n.*3892C>A) c.*4197C>A (n.*4197C>A) c.*3928C>A (n.*3928C>A) c.3529C>A (p.Arg1177=) c.2722+429C>A c.3880C>A (p.Arg1294=) c.2859C>A n.954C>A n.3164C>A n.210C>A n.3987C>A c.3997C>A (p.Arg1333=) c.3976C>A (p.Arg1326=) c.3958C>A (p.Arg1320=) c.3940C>A (p.Arg1314=) c.3901C>A (p.Arg1301=) c.3862C>A (p.Arg1288=) c.3586C>A (p.Arg1196=) c.3547C>A (p.Arg1183=) c.3937C>A (p.Arg1313=) c.3844C>A (p.Arg1282=) c.3319C>A (p.Arg1107=) c.3634C>A (p.Arg1212=) n.8206C>A | dbSNP ExAC gnomAD v2 |
3 | g.9475585C= | CA1344742452 | SETD5 | n.2778C= c.3919C= (p.Arg1307=) n.4812C= n.2203C= n.6620C= n.6065C= c.3823C= (p.Arg1275=) c.*3969C= (n.*3969C=) c.*3892C= (n.*3892C=) c.*4197C= (n.*4197C=) c.*3928C= (n.*3928C=) c.3529C= (p.Arg1177=) c.2722+429C= c.3880C= (p.Arg1294=) c.2859C= n.954C= n.3164C= n.210C= n.3987C= c.3997C= (p.Arg1333=) c.3976C= (p.Arg1326=) c.3958C= (p.Arg1320=) c.3940C= (p.Arg1314=) c.3901C= (p.Arg1301=) c.3862C= (p.Arg1288=) c.3586C= (p.Arg1196=) c.3547C= (p.Arg1183=) c.3937C= (p.Arg1313=) c.3844C= (p.Arg1282=) c.3319C= (p.Arg1107=) c.3634C= (p.Arg1212=) n.8206C= | |
3 | g.9475585C>G | CA351691333 | SETD5 | n.2778C>G c.3919C>G (p.Arg1307Gly) n.4812C>G n.2203C>G n.6620C>G n.6065C>G c.3823C>G (p.Arg1275Gly) c.*3969C>G (n.*3969C>G) c.*3892C>G (n.*3892C>G) c.*4197C>G (n.*4197C>G) c.*3928C>G (n.*3928C>G) c.3529C>G (p.Arg1177Gly) c.2722+429C>G c.3880C>G (p.Arg1294Gly) c.2859C>G n.954C>G n.3164C>G n.210C>G n.3987C>G c.3997C>G (p.Arg1333Gly) c.3976C>G (p.Arg1326Gly) c.3958C>G (p.Arg1320Gly) c.3940C>G (p.Arg1314Gly) c.3901C>G (p.Arg1301Gly) c.3862C>G (p.Arg1288Gly) c.3586C>G (p.Arg1196Gly) c.3547C>G (p.Arg1183Gly) c.3937C>G (p.Arg1313Gly) c.3844C>G (p.Arg1282Gly) c.3319C>G (p.Arg1107Gly) c.3634C>G (p.Arg1212Gly) n.8206C>G | gnomAD v4 |
3 | g.9475585C>T | CA351691334 | SETD5 | n.2778C>T c.3919C>T (p.Arg1307Ter) n.4812C>T n.2203C>T n.6620C>T n.6065C>T c.3823C>T (p.Arg1275Ter) c.*3969C>T (n.*3969C>T) c.*3892C>T (n.*3892C>T) c.*4197C>T (n.*4197C>T) c.*3928C>T (n.*3928C>T) c.3529C>T (p.Arg1177Ter) c.2722+429C>T c.3880C>T (p.Arg1294Ter) c.2859C>T n.954C>T n.3164C>T n.210C>T n.3987C>T c.3997C>T (p.Arg1333Ter) c.3976C>T (p.Arg1326Ter) c.3958C>T (p.Arg1320Ter) c.3940C>T (p.Arg1314Ter) c.3901C>T (p.Arg1301Ter) c.3862C>T (p.Arg1288Ter) c.3586C>T (p.Arg1196Ter) c.3547C>T (p.Arg1183Ter) c.3937C>T (p.Arg1313Ter) c.3844C>T (p.Arg1282Ter) c.3319C>T (p.Arg1107Ter) c.3634C>T (p.Arg1212Ter) n.8206C>T | gnomAD v4 |
3 | g.9475586G>A | CA351691337 | SETD5 | n.2779G>A c.3920G>A (p.Arg1307Gln) n.4813G>A n.2204G>A n.6621G>A n.6066G>A c.3824G>A (p.Arg1275Gln) c.*3970G>A (n.*3970G>A) c.*3893G>A (n.*3893G>A) c.*4198G>A (n.*4198G>A) c.*3929G>A (n.*3929G>A) c.3530G>A (p.Arg1177Gln) c.2722+430G>A c.3881G>A (p.Arg1294Gln) c.2860G>A n.955G>A n.3165G>A n.211G>A n.3988G>A c.3998G>A (p.Arg1333Gln) c.3977G>A (p.Arg1326Gln) c.3959G>A (p.Arg1320Gln) c.3941G>A (p.Arg1314Gln) c.3902G>A (p.Arg1301Gln) c.3863G>A (p.Arg1288Gln) c.3587G>A (p.Arg1196Gln) c.3548G>A (p.Arg1183Gln) c.3938G>A (p.Arg1313Gln) c.3845G>A (p.Arg1282Gln) c.3320G>A (p.Arg1107Gln) c.3635G>A (p.Arg1212Gln) n.8207G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.9475586G>C | CA351691339 | SETD5 | n.2779G>C c.3920G>C (p.Arg1307Pro) n.4813G>C n.2204G>C n.6621G>C n.6066G>C c.3824G>C (p.Arg1275Pro) c.*3970G>C (n.*3970G>C) c.*3893G>C (n.*3893G>C) c.*4198G>C (n.*4198G>C) c.*3929G>C (n.*3929G>C) c.3530G>C (p.Arg1177Pro) c.2722+430G>C c.3881G>C (p.Arg1294Pro) c.2860G>C n.955G>C n.3165G>C n.211G>C n.3988G>C c.3998G>C (p.Arg1333Pro) c.3977G>C (p.Arg1326Pro) c.3959G>C (p.Arg1320Pro) c.3941G>C (p.Arg1314Pro) c.3902G>C (p.Arg1301Pro) c.3863G>C (p.Arg1288Pro) c.3587G>C (p.Arg1196Pro) c.3548G>C (p.Arg1183Pro) c.3938G>C (p.Arg1313Pro) c.3845G>C (p.Arg1282Pro) c.3320G>C (p.Arg1107Pro) c.3635G>C (p.Arg1212Pro) n.8207G>C | |
3 | g.9475586G= | CA1344742455 | SETD5 | n.2779G= c.3920G= (p.Arg1307=) n.4813G= n.2204G= n.6621G= n.6066G= c.3824G= (p.Arg1275=) c.*3970G= (n.*3970G=) c.*3893G= (n.*3893G=) c.*4198G= (n.*4198G=) c.*3929G= (n.*3929G=) c.3530G= (p.Arg1177=) c.2722+430G= c.3881G= (p.Arg1294=) c.2860G= n.955G= n.3165G= n.211G= n.3988G= c.3998G= (p.Arg1333=) c.3977G= (p.Arg1326=) c.3959G= (p.Arg1320=) c.3941G= (p.Arg1314=) c.3902G= (p.Arg1301=) c.3863G= (p.Arg1288=) c.3587G= (p.Arg1196=) c.3548G= (p.Arg1183=) c.3938G= (p.Arg1313=) c.3845G= (p.Arg1282=) c.3320G= (p.Arg1107=) c.3635G= (p.Arg1212=) n.8207G= | |
3 | g.9475586G>T | CA351691340 | SETD5 | n.2779G>T c.3920G>T (p.Arg1307Leu) n.4813G>T n.2204G>T n.6621G>T n.6066G>T c.3824G>T (p.Arg1275Leu) c.*3970G>T (n.*3970G>T) c.*3893G>T (n.*3893G>T) c.*4198G>T (n.*4198G>T) c.*3929G>T (n.*3929G>T) c.3530G>T (p.Arg1177Leu) c.2722+430G>T c.3881G>T (p.Arg1294Leu) c.2860G>T n.955G>T n.3165G>T n.211G>T n.3988G>T c.3998G>T (p.Arg1333Leu) c.3977G>T (p.Arg1326Leu) c.3959G>T (p.Arg1320Leu) c.3941G>T (p.Arg1314Leu) c.3902G>T (p.Arg1301Leu) c.3863G>T (p.Arg1288Leu) c.3587G>T (p.Arg1196Leu) c.3548G>T (p.Arg1183Leu) c.3938G>T (p.Arg1313Leu) c.3845G>T (p.Arg1282Leu) c.3320G>T (p.Arg1107Leu) c.3635G>T (p.Arg1212Leu) n.8207G>T | gnomAD v4 |
3 | g.9475587A>C | CA432528557 | SETD5 | n.2780A>C c.3921A>C (p.Arg1307=) n.4814A>C n.2205A>C n.6622A>C n.6067A>C c.3825A>C (p.Arg1275=) c.*3971A>C (n.*3971A>C) c.*3894A>C (n.*3894A>C) c.*4199A>C (n.*4199A>C) c.*3930A>C (n.*3930A>C) c.3531A>C (p.Arg1177=) c.2722+431A>C c.3882A>C (p.Arg1294=) c.2861A>C n.956A>C n.3166A>C n.212A>C n.3989A>C c.3999A>C (p.Arg1333=) c.3978A>C (p.Arg1326=) c.3960A>C (p.Arg1320=) c.3942A>C (p.Arg1314=) c.3903A>C (p.Arg1301=) c.3864A>C (p.Arg1288=) c.3588A>C (p.Arg1196=) c.3549A>C (p.Arg1183=) c.3939A>C (p.Arg1313=) c.3846A>C (p.Arg1282=) c.3321A>C (p.Arg1107=) c.3636A>C (p.Arg1212=) n.8208A>C | |
3 | g.9475587A>G | CA432528559 | SETD5 | n.2780A>G c.3921A>G (p.Arg1307=) n.4814A>G n.2205A>G n.6622A>G n.6067A>G c.3825A>G (p.Arg1275=) c.*3971A>G (n.*3971A>G) c.*3894A>G (n.*3894A>G) c.*4199A>G (n.*4199A>G) c.*3930A>G (n.*3930A>G) c.3531A>G (p.Arg1177=) c.2722+431A>G c.3882A>G (p.Arg1294=) c.2861A>G n.956A>G n.3166A>G n.212A>G n.3989A>G c.3999A>G (p.Arg1333=) c.3978A>G (p.Arg1326=) c.3960A>G (p.Arg1320=) c.3942A>G (p.Arg1314=) c.3903A>G (p.Arg1301=) c.3864A>G (p.Arg1288=) c.3588A>G (p.Arg1196=) c.3549A>G (p.Arg1183=) c.3939A>G (p.Arg1313=) c.3846A>G (p.Arg1282=) c.3321A>G (p.Arg1107=) c.3636A>G (p.Arg1212=) n.8208A>G | |
3 | g.9475587A>T | CA432528560 | SETD5 | n.2780A>T c.3921A>T (p.Arg1307=) n.4814A>T n.2205A>T n.6622A>T n.6067A>T c.3825A>T (p.Arg1275=) c.*3971A>T (n.*3971A>T) c.*3894A>T (n.*3894A>T) c.*4199A>T (n.*4199A>T) c.*3930A>T (n.*3930A>T) c.3531A>T (p.Arg1177=) c.2722+431A>T c.3882A>T (p.Arg1294=) c.2861A>T n.956A>T n.3166A>T n.212A>T n.3989A>T c.3999A>T (p.Arg1333=) c.3978A>T (p.Arg1326=) c.3960A>T (p.Arg1320=) c.3942A>T (p.Arg1314=) c.3903A>T (p.Arg1301=) c.3864A>T (p.Arg1288=) c.3588A>T (p.Arg1196=) c.3549A>T (p.Arg1183=) c.3939A>T (p.Arg1313=) c.3846A>T (p.Arg1282=) c.3321A>T (p.Arg1107=) c.3636A>T (p.Arg1212=) n.8208A>T | |
3 | g.9475588A>C | CA351691349 | SETD5 | n.2781A>C c.3922A>C (p.Thr1308Pro) n.4815A>C n.2206A>C n.6623A>C n.6068A>C c.3826A>C (p.Thr1276Pro) c.*3972A>C (n.*3972A>C) c.*3895A>C (n.*3895A>C) c.*4200A>C (n.*4200A>C) c.*3931A>C (n.*3931A>C) c.3532A>C (p.Thr1178Pro) c.2722+432A>C c.3883A>C (p.Thr1295Pro) c.2862A>C n.957A>C n.3167A>C n.213A>C n.3990A>C c.4000A>C (p.Thr1334Pro) c.3979A>C (p.Thr1327Pro) c.3961A>C (p.Thr1321Pro) c.3943A>C (p.Thr1315Pro) c.3904A>C (p.Thr1302Pro) c.3865A>C (p.Thr1289Pro) c.3589A>C (p.Thr1197Pro) c.3550A>C (p.Thr1184Pro) c.3940A>C (p.Thr1314Pro) c.3847A>C (p.Thr1283Pro) c.3322A>C (p.Thr1108Pro) c.3637A>C (p.Thr1213Pro) n.8209A>C | |
3 | g.9475588A>G | CA351691342 | SETD5 | n.2781A>G c.3922A>G (p.Thr1308Ala) n.4815A>G n.2206A>G n.6623A>G n.6068A>G c.3826A>G (p.Thr1276Ala) c.*3972A>G (n.*3972A>G) c.*3895A>G (n.*3895A>G) c.*4200A>G (n.*4200A>G) c.*3931A>G (n.*3931A>G) c.3532A>G (p.Thr1178Ala) c.2722+432A>G c.3883A>G (p.Thr1295Ala) c.2862A>G n.957A>G n.3167A>G n.213A>G n.3990A>G c.4000A>G (p.Thr1334Ala) c.3979A>G (p.Thr1327Ala) c.3961A>G (p.Thr1321Ala) c.3943A>G (p.Thr1315Ala) c.3904A>G (p.Thr1302Ala) c.3865A>G (p.Thr1289Ala) c.3589A>G (p.Thr1197Ala) c.3550A>G (p.Thr1184Ala) c.3940A>G (p.Thr1314Ala) c.3847A>G (p.Thr1283Ala) c.3322A>G (p.Thr1108Ala) c.3637A>G (p.Thr1213Ala) n.8209A>G | gnomAD v4 |
3 | g.9475588A>T | CA351691348 | SETD5 | n.2781A>T c.3922A>T (p.Thr1308Ser) n.4815A>T n.2206A>T n.6623A>T n.6068A>T c.3826A>T (p.Thr1276Ser) c.*3972A>T (n.*3972A>T) c.*3895A>T (n.*3895A>T) c.*4200A>T (n.*4200A>T) c.*3931A>T (n.*3931A>T) c.3532A>T (p.Thr1178Ser) c.2722+432A>T c.3883A>T (p.Thr1295Ser) c.2862A>T n.957A>T n.3167A>T n.213A>T n.3990A>T c.4000A>T (p.Thr1334Ser) c.3979A>T (p.Thr1327Ser) c.3961A>T (p.Thr1321Ser) c.3943A>T (p.Thr1315Ser) c.3904A>T (p.Thr1302Ser) c.3865A>T (p.Thr1289Ser) c.3589A>T (p.Thr1197Ser) c.3550A>T (p.Thr1184Ser) c.3940A>T (p.Thr1314Ser) c.3847A>T (p.Thr1283Ser) c.3322A>T (p.Thr1108Ser) c.3637A>T (p.Thr1213Ser) n.8209A>T | |
3 | g.9475589C>A | CA351691351 | SETD5 | n.2782C>A c.3923C>A (p.Thr1308Asn) n.4816C>A n.2207C>A n.6624C>A n.6069C>A c.3827C>A (p.Thr1276Asn) c.*3973C>A (n.*3973C>A) c.*3896C>A (n.*3896C>A) c.*4201C>A (n.*4201C>A) c.*3932C>A (n.*3932C>A) c.3533C>A (p.Thr1178Asn) c.2722+433C>A c.3884C>A (p.Thr1295Asn) c.2863C>A n.958C>A n.3168C>A n.214C>A n.3991C>A c.4001C>A (p.Thr1334Asn) c.3980C>A (p.Thr1327Asn) c.3962C>A (p.Thr1321Asn) c.3944C>A (p.Thr1315Asn) c.3905C>A (p.Thr1302Asn) c.3866C>A (p.Thr1289Asn) c.3590C>A (p.Thr1197Asn) c.3551C>A (p.Thr1184Asn) c.3941C>A (p.Thr1314Asn) c.3848C>A (p.Thr1283Asn) c.3323C>A (p.Thr1108Asn) c.3638C>A (p.Thr1213Asn) n.8210C>A | gnomAD v4 |
3 | g.9475589C>G | CA351691353 | SETD5 | n.2782C>G c.3923C>G (p.Thr1308Ser) n.4816C>G n.2207C>G n.6624C>G n.6069C>G c.3827C>G (p.Thr1276Ser) c.*3973C>G (n.*3973C>G) c.*3896C>G (n.*3896C>G) c.*4201C>G (n.*4201C>G) c.*3932C>G (n.*3932C>G) c.3533C>G (p.Thr1178Ser) c.2722+433C>G c.3884C>G (p.Thr1295Ser) c.2863C>G n.958C>G n.3168C>G n.214C>G n.3991C>G c.4001C>G (p.Thr1334Ser) c.3980C>G (p.Thr1327Ser) c.3962C>G (p.Thr1321Ser) c.3944C>G (p.Thr1315Ser) c.3905C>G (p.Thr1302Ser) c.3866C>G (p.Thr1289Ser) c.3590C>G (p.Thr1197Ser) c.3551C>G (p.Thr1184Ser) c.3941C>G (p.Thr1314Ser) c.3848C>G (p.Thr1283Ser) c.3323C>G (p.Thr1108Ser) c.3638C>G (p.Thr1213Ser) n.8210C>G | |
3 | g.9475589C>T | CA351691355 | SETD5 | n.2782C>T c.3923C>T (p.Thr1308Ile) n.4816C>T n.2207C>T n.6624C>T n.6069C>T c.3827C>T (p.Thr1276Ile) c.*3973C>T (n.*3973C>T) c.*3896C>T (n.*3896C>T) c.*4201C>T (n.*4201C>T) c.*3932C>T (n.*3932C>T) c.3533C>T (p.Thr1178Ile) c.2722+433C>T c.3884C>T (p.Thr1295Ile) c.2863C>T n.958C>T n.3168C>T n.214C>T n.3991C>T c.4001C>T (p.Thr1334Ile) c.3980C>T (p.Thr1327Ile) c.3962C>T (p.Thr1321Ile) c.3944C>T (p.Thr1315Ile) c.3905C>T (p.Thr1302Ile) c.3866C>T (p.Thr1289Ile) c.3590C>T (p.Thr1197Ile) c.3551C>T (p.Thr1184Ile) c.3941C>T (p.Thr1314Ile) c.3848C>T (p.Thr1283Ile) c.3323C>T (p.Thr1108Ile) c.3638C>T (p.Thr1213Ile) n.8210C>T | |
3 | g.9475590T>A | CA432528568 | SETD5 | n.2783T>A c.3924T>A (p.Thr1308=) n.4817T>A n.2208T>A n.6625T>A n.6070T>A c.3828T>A (p.Thr1276=) c.*3974T>A (n.*3974T>A) c.*3897T>A (n.*3897T>A) c.*4202T>A (n.*4202T>A) c.*3933T>A (n.*3933T>A) c.3534T>A (p.Thr1178=) c.2722+434T>A c.3885T>A (p.Thr1295=) c.2864T>A n.959T>A n.3169T>A n.215T>A n.3992T>A c.4002T>A (p.Thr1334=) c.3981T>A (p.Thr1327=) c.3963T>A (p.Thr1321=) c.3945T>A (p.Thr1315=) c.3906T>A (p.Thr1302=) c.3867T>A (p.Thr1289=) c.3591T>A (p.Thr1197=) c.3552T>A (p.Thr1184=) c.3942T>A (p.Thr1314=) c.3849T>A (p.Thr1283=) c.3324T>A (p.Thr1108=) c.3639T>A (p.Thr1213=) n.8211T>A | |
3 | g.9475590T>C | CA432528569 | SETD5 | n.2783T>C c.3924T>C (p.Thr1308=) n.4817T>C n.2208T>C n.6625T>C n.6070T>C c.3828T>C (p.Thr1276=) c.*3974T>C (n.*3974T>C) c.*3897T>C (n.*3897T>C) c.*4202T>C (n.*4202T>C) c.*3933T>C (n.*3933T>C) c.3534T>C (p.Thr1178=) c.2722+434T>C c.3885T>C (p.Thr1295=) c.2864T>C n.959T>C n.3169T>C n.215T>C n.3992T>C c.4002T>C (p.Thr1334=) c.3981T>C (p.Thr1327=) c.3963T>C (p.Thr1321=) c.3945T>C (p.Thr1315=) c.3906T>C (p.Thr1302=) c.3867T>C (p.Thr1289=) c.3591T>C (p.Thr1197=) c.3552T>C (p.Thr1184=) c.3942T>C (p.Thr1314=) c.3849T>C (p.Thr1283=) c.3324T>C (p.Thr1108=) c.3639T>C (p.Thr1213=) n.8211T>C | |
3 | g.9475590T>G | CA432528570 | SETD5 | n.2783T>G c.3924T>G (p.Thr1308=) n.4817T>G n.2208T>G n.6625T>G n.6070T>G c.3828T>G (p.Thr1276=) c.*3974T>G (n.*3974T>G) c.*3897T>G (n.*3897T>G) c.*4202T>G (n.*4202T>G) c.*3933T>G (n.*3933T>G) c.3534T>G (p.Thr1178=) c.2722+434T>G c.3885T>G (p.Thr1295=) c.2864T>G n.959T>G n.3169T>G n.215T>G n.3992T>G c.4002T>G (p.Thr1334=) c.3981T>G (p.Thr1327=) c.3963T>G (p.Thr1321=) c.3945T>G (p.Thr1315=) c.3906T>G (p.Thr1302=) c.3867T>G (p.Thr1289=) c.3591T>G (p.Thr1197=) c.3552T>G (p.Thr1184=) c.3942T>G (p.Thr1314=) c.3849T>G (p.Thr1283=) c.3324T>G (p.Thr1108=) c.3639T>G (p.Thr1213=) n.8211T>G | |
3 | g.9475591A= | CA1344742458 | SETD5 | n.2784A= c.3925A= (p.Thr1309=) n.4818A= n.2209A= n.6626A= n.6071A= c.3829A= (p.Thr1277=) c.*3975A= (n.*3975A=) c.*3898A= (n.*3898A=) c.*4203A= (n.*4203A=) c.*3934A= (n.*3934A=) c.3535A= (p.Thr1179=) c.2722+435A= c.3886A= (p.Thr1296=) c.2865A= n.960A= n.3170A= n.216A= n.3993A= c.4003A= (p.Thr1335=) c.3982A= (p.Thr1328=) c.3964A= (p.Thr1322=) c.3946A= (p.Thr1316=) c.3907A= (p.Thr1303=) c.3868A= (p.Thr1290=) c.3592A= (p.Thr1198=) c.3553A= (p.Thr1185=) c.3943A= (p.Thr1315=) c.3850A= (p.Thr1284=) c.3325A= (p.Thr1109=) c.3640A= (p.Thr1214=) n.8212A= | |
3 | g.9475591A>C | CA351691360 | SETD5 | n.2784A>C c.3925A>C (p.Thr1309Pro) n.4818A>C n.2209A>C n.6626A>C n.6071A>C c.3829A>C (p.Thr1277Pro) c.*3975A>C (n.*3975A>C) c.*3898A>C (n.*3898A>C) c.*4203A>C (n.*4203A>C) c.*3934A>C (n.*3934A>C) c.3535A>C (p.Thr1179Pro) c.2722+435A>C c.3886A>C (p.Thr1296Pro) c.2865A>C n.960A>C n.3170A>C n.216A>C n.3993A>C c.4003A>C (p.Thr1335Pro) c.3982A>C (p.Thr1328Pro) c.3964A>C (p.Thr1322Pro) c.3946A>C (p.Thr1316Pro) c.3907A>C (p.Thr1303Pro) c.3868A>C (p.Thr1290Pro) c.3592A>C (p.Thr1198Pro) c.3553A>C (p.Thr1185Pro) c.3943A>C (p.Thr1315Pro) c.3850A>C (p.Thr1284Pro) c.3325A>C (p.Thr1109Pro) c.3640A>C (p.Thr1214Pro) n.8212A>C | |
3 | g.9475591A>G | CA2239809 | SETD5 | n.2784A>G c.3925A>G (p.Thr1309Ala) n.4818A>G n.2209A>G n.6626A>G n.6071A>G c.3829A>G (p.Thr1277Ala) c.*3975A>G (n.*3975A>G) c.*3898A>G (n.*3898A>G) c.*4203A>G (n.*4203A>G) c.*3934A>G (n.*3934A>G) c.3535A>G (p.Thr1179Ala) c.2722+435A>G c.3886A>G (p.Thr1296Ala) c.2865A>G n.960A>G n.3170A>G n.216A>G n.3993A>G c.4003A>G (p.Thr1335Ala) c.3982A>G (p.Thr1328Ala) c.3964A>G (p.Thr1322Ala) c.3946A>G (p.Thr1316Ala) c.3907A>G (p.Thr1303Ala) c.3868A>G (p.Thr1290Ala) c.3592A>G (p.Thr1198Ala) c.3553A>G (p.Thr1185Ala) c.3943A>G (p.Thr1315Ala) c.3850A>G (p.Thr1284Ala) c.3325A>G (p.Thr1109Ala) c.3640A>G (p.Thr1214Ala) n.8212A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475591A>T | CA351691386 | SETD5 | n.2784A>T c.3925A>T (p.Thr1309Ser) n.4818A>T n.2209A>T n.6626A>T n.6071A>T c.3829A>T (p.Thr1277Ser) c.*3975A>T (n.*3975A>T) c.*3898A>T (n.*3898A>T) c.*4203A>T (n.*4203A>T) c.*3934A>T (n.*3934A>T) c.3535A>T (p.Thr1179Ser) c.2722+435A>T c.3886A>T (p.Thr1296Ser) c.2865A>T n.960A>T n.3170A>T n.216A>T n.3993A>T c.4003A>T (p.Thr1335Ser) c.3982A>T (p.Thr1328Ser) c.3964A>T (p.Thr1322Ser) c.3946A>T (p.Thr1316Ser) c.3907A>T (p.Thr1303Ser) c.3868A>T (p.Thr1290Ser) c.3592A>T (p.Thr1198Ser) c.3553A>T (p.Thr1185Ser) c.3943A>T (p.Thr1315Ser) c.3850A>T (p.Thr1284Ser) c.3325A>T (p.Thr1109Ser) c.3640A>T (p.Thr1214Ser) n.8212A>T | |
3 | g.9475592C>A | CA351691394 | SETD5 | n.2785C>A c.3926C>A (p.Thr1309Asn) n.4819C>A n.2210C>A n.6627C>A n.6072C>A c.3830C>A (p.Thr1277Asn) c.*3976C>A (n.*3976C>A) c.*3899C>A (n.*3899C>A) c.*4204C>A (n.*4204C>A) c.*3935C>A (n.*3935C>A) c.3536C>A (p.Thr1179Asn) c.2722+436C>A c.3887C>A (p.Thr1296Asn) c.2866C>A n.961C>A n.3171C>A n.217C>A n.3994C>A c.4004C>A (p.Thr1335Asn) c.3983C>A (p.Thr1328Asn) c.3965C>A (p.Thr1322Asn) c.3947C>A (p.Thr1316Asn) c.3908C>A (p.Thr1303Asn) c.3869C>A (p.Thr1290Asn) c.3593C>A (p.Thr1198Asn) c.3554C>A (p.Thr1185Asn) c.3944C>A (p.Thr1315Asn) c.3851C>A (p.Thr1284Asn) c.3326C>A (p.Thr1109Asn) c.3641C>A (p.Thr1214Asn) n.8213C>A | |
3 | g.9475592C>G | CA351691402 | SETD5 | n.2785C>G c.3926C>G (p.Thr1309Ser) n.4819C>G n.2210C>G n.6627C>G n.6072C>G c.3830C>G (p.Thr1277Ser) c.*3976C>G (n.*3976C>G) c.*3899C>G (n.*3899C>G) c.*4204C>G (n.*4204C>G) c.*3935C>G (n.*3935C>G) c.3536C>G (p.Thr1179Ser) c.2722+436C>G c.3887C>G (p.Thr1296Ser) c.2866C>G n.961C>G n.3171C>G n.217C>G n.3994C>G c.4004C>G (p.Thr1335Ser) c.3983C>G (p.Thr1328Ser) c.3965C>G (p.Thr1322Ser) c.3947C>G (p.Thr1316Ser) c.3908C>G (p.Thr1303Ser) c.3869C>G (p.Thr1290Ser) c.3593C>G (p.Thr1198Ser) c.3554C>G (p.Thr1185Ser) c.3944C>G (p.Thr1315Ser) c.3851C>G (p.Thr1284Ser) c.3326C>G (p.Thr1109Ser) c.3641C>G (p.Thr1214Ser) n.8213C>G | |
3 | g.9475592C>T | CA351691405 | SETD5 | n.2785C>T c.3926C>T (p.Thr1309Ile) n.4819C>T n.2210C>T n.6627C>T n.6072C>T c.3830C>T (p.Thr1277Ile) c.*3976C>T (n.*3976C>T) c.*3899C>T (n.*3899C>T) c.*4204C>T (n.*4204C>T) c.*3935C>T (n.*3935C>T) c.3536C>T (p.Thr1179Ile) c.2722+436C>T c.3887C>T (p.Thr1296Ile) c.2866C>T n.961C>T n.3171C>T n.217C>T n.3994C>T c.4004C>T (p.Thr1335Ile) c.3983C>T (p.Thr1328Ile) c.3965C>T (p.Thr1322Ile) c.3947C>T (p.Thr1316Ile) c.3908C>T (p.Thr1303Ile) c.3869C>T (p.Thr1290Ile) c.3593C>T (p.Thr1198Ile) c.3554C>T (p.Thr1185Ile) c.3944C>T (p.Thr1315Ile) c.3851C>T (p.Thr1284Ile) c.3326C>T (p.Thr1109Ile) c.3641C>T (p.Thr1214Ile) n.8213C>T | |
3 | g.9475593T>A | CA432528581 | SETD5 | n.2786T>A c.3927T>A (p.Thr1309=) n.4820T>A n.2211T>A n.6628T>A n.6073T>A c.3831T>A (p.Thr1277=) c.*3977T>A (n.*3977T>A) c.*3900T>A (n.*3900T>A) c.*4205T>A (n.*4205T>A) c.*3936T>A (n.*3936T>A) c.3537T>A (p.Thr1179=) c.2722+437T>A c.3888T>A (p.Thr1296=) c.2867T>A n.962T>A n.3172T>A n.218T>A n.3995T>A c.4005T>A (p.Thr1335=) c.3984T>A (p.Thr1328=) c.3966T>A (p.Thr1322=) c.3948T>A (p.Thr1316=) c.3909T>A (p.Thr1303=) c.3870T>A (p.Thr1290=) c.3594T>A (p.Thr1198=) c.3555T>A (p.Thr1185=) c.3945T>A (p.Thr1315=) c.3852T>A (p.Thr1284=) c.3327T>A (p.Thr1109=) c.3642T>A (p.Thr1214=) n.8214T>A | |
3 | g.9475593T>C | CA432528582 | SETD5 | n.2786T>C c.3927T>C (p.Thr1309=) n.4820T>C n.2211T>C n.6628T>C n.6073T>C c.3831T>C (p.Thr1277=) c.*3977T>C (n.*3977T>C) c.*3900T>C (n.*3900T>C) c.*4205T>C (n.*4205T>C) c.*3936T>C (n.*3936T>C) c.3537T>C (p.Thr1179=) c.2722+437T>C c.3888T>C (p.Thr1296=) c.2867T>C n.962T>C n.3172T>C n.218T>C n.3995T>C c.4005T>C (p.Thr1335=) c.3984T>C (p.Thr1328=) c.3966T>C (p.Thr1322=) c.3948T>C (p.Thr1316=) c.3909T>C (p.Thr1303=) c.3870T>C (p.Thr1290=) c.3594T>C (p.Thr1198=) c.3555T>C (p.Thr1185=) c.3945T>C (p.Thr1315=) c.3852T>C (p.Thr1284=) c.3327T>C (p.Thr1109=) c.3642T>C (p.Thr1214=) n.8214T>C | |
3 | g.9475593T>G | CA432528583 | SETD5 | n.2786T>G c.3927T>G (p.Thr1309=) n.4820T>G n.2211T>G n.6628T>G n.6073T>G c.3831T>G (p.Thr1277=) c.*3977T>G (n.*3977T>G) c.*3900T>G (n.*3900T>G) c.*4205T>G (n.*4205T>G) c.*3936T>G (n.*3936T>G) c.3537T>G (p.Thr1179=) c.2722+437T>G c.3888T>G (p.Thr1296=) c.2867T>G n.962T>G n.3172T>G n.218T>G n.3995T>G c.4005T>G (p.Thr1335=) c.3984T>G (p.Thr1328=) c.3966T>G (p.Thr1322=) c.3948T>G (p.Thr1316=) c.3909T>G (p.Thr1303=) c.3870T>G (p.Thr1290=) c.3594T>G (p.Thr1198=) c.3555T>G (p.Thr1185=) c.3945T>G (p.Thr1315=) c.3852T>G (p.Thr1284=) c.3327T>G (p.Thr1109=) c.3642T>G (p.Thr1214=) n.8214T>G | |
3 | g.9475594G>A | CA351691411 | SETD5 | n.2787G>A c.3928G>A (p.Ala1310Thr) n.4821G>A n.2212G>A n.6629G>A n.6074G>A c.3832G>A (p.Ala1278Thr) c.*3978G>A (n.*3978G>A) c.*3901G>A (n.*3901G>A) c.*4206G>A (n.*4206G>A) c.*3937G>A (n.*3937G>A) c.3538G>A (p.Ala1180Thr) c.2722+438G>A c.3889G>A (p.Ala1297Thr) c.2868G>A n.963G>A n.3173G>A n.219G>A n.3996G>A c.4006G>A (p.Ala1336Thr) c.3985G>A (p.Ala1329Thr) c.3967G>A (p.Ala1323Thr) c.3949G>A (p.Ala1317Thr) c.3910G>A (p.Ala1304Thr) c.3871G>A (p.Ala1291Thr) c.3595G>A (p.Ala1199Thr) c.3556G>A (p.Ala1186Thr) c.3946G>A (p.Ala1316Thr) c.3853G>A (p.Ala1285Thr) c.3328G>A (p.Ala1110Thr) c.3643G>A (p.Ala1215Thr) n.8215G>A | |
3 | g.9475594G>C | CA351691432 | SETD5 | n.2787G>C c.3928G>C (p.Ala1310Pro) n.4821G>C n.2212G>C n.6629G>C n.6074G>C c.3832G>C (p.Ala1278Pro) c.*3978G>C (n.*3978G>C) c.*3901G>C (n.*3901G>C) c.*4206G>C (n.*4206G>C) c.*3937G>C (n.*3937G>C) c.3538G>C (p.Ala1180Pro) c.2722+438G>C c.3889G>C (p.Ala1297Pro) c.2868G>C n.963G>C n.3173G>C n.219G>C n.3996G>C c.4006G>C (p.Ala1336Pro) c.3985G>C (p.Ala1329Pro) c.3967G>C (p.Ala1323Pro) c.3949G>C (p.Ala1317Pro) c.3910G>C (p.Ala1304Pro) c.3871G>C (p.Ala1291Pro) c.3595G>C (p.Ala1199Pro) c.3556G>C (p.Ala1186Pro) c.3946G>C (p.Ala1316Pro) c.3853G>C (p.Ala1285Pro) c.3328G>C (p.Ala1110Pro) c.3643G>C (p.Ala1215Pro) n.8215G>C | |
3 | g.9475594G>T | CA351691436 | SETD5 | n.2787G>T c.3928G>T (p.Ala1310Ser) n.4821G>T n.2212G>T n.6629G>T n.6074G>T c.3832G>T (p.Ala1278Ser) c.*3978G>T (n.*3978G>T) c.*3901G>T (n.*3901G>T) c.*4206G>T (n.*4206G>T) c.*3937G>T (n.*3937G>T) c.3538G>T (p.Ala1180Ser) c.2722+438G>T c.3889G>T (p.Ala1297Ser) c.2868G>T n.963G>T n.3173G>T n.219G>T n.3996G>T c.4006G>T (p.Ala1336Ser) c.3985G>T (p.Ala1329Ser) c.3967G>T (p.Ala1323Ser) c.3949G>T (p.Ala1317Ser) c.3910G>T (p.Ala1304Ser) c.3871G>T (p.Ala1291Ser) c.3595G>T (p.Ala1199Ser) c.3556G>T (p.Ala1186Ser) c.3946G>T (p.Ala1316Ser) c.3853G>T (p.Ala1285Ser) c.3328G>T (p.Ala1110Ser) c.3643G>T (p.Ala1215Ser) n.8215G>T | |
3 | g.9475595C>A | CA351691439 | SETD5 | n.2788C>A c.3929C>A (p.Ala1310Glu) n.4822C>A n.2213C>A n.6630C>A n.6075C>A c.3833C>A (p.Ala1278Glu) c.*3979C>A (n.*3979C>A) c.*3902C>A (n.*3902C>A) c.*4207C>A (n.*4207C>A) c.*3938C>A (n.*3938C>A) c.3539C>A (p.Ala1180Glu) c.2722+439C>A c.3890C>A (p.Ala1297Glu) c.2869C>A n.964C>A n.3174C>A n.220C>A n.3997C>A c.4007C>A (p.Ala1336Glu) c.3986C>A (p.Ala1329Glu) c.3968C>A (p.Ala1323Glu) c.3950C>A (p.Ala1317Glu) c.3911C>A (p.Ala1304Glu) c.3872C>A (p.Ala1291Glu) c.3596C>A (p.Ala1199Glu) c.3557C>A (p.Ala1186Glu) c.3947C>A (p.Ala1316Glu) c.3854C>A (p.Ala1285Glu) c.3329C>A (p.Ala1110Glu) c.3644C>A (p.Ala1215Glu) n.8216C>A | |
3 | g.9475595C= | CA1344742460 | SETD5 | n.2788C= c.3929C= (p.Ala1310=) n.4822C= n.2213C= n.6630C= n.6075C= c.3833C= (p.Ala1278=) c.*3979C= (n.*3979C=) c.*3902C= (n.*3902C=) c.*4207C= (n.*4207C=) c.*3938C= (n.*3938C=) c.3539C= (p.Ala1180=) c.2722+439C= c.3890C= (p.Ala1297=) c.2869C= n.964C= n.3174C= n.220C= n.3997C= c.4007C= (p.Ala1336=) c.3986C= (p.Ala1329=) c.3968C= (p.Ala1323=) c.3950C= (p.Ala1317=) c.3911C= (p.Ala1304=) c.3872C= (p.Ala1291=) c.3596C= (p.Ala1199=) c.3557C= (p.Ala1186=) c.3947C= (p.Ala1316=) c.3854C= (p.Ala1285=) c.3329C= (p.Ala1110=) c.3644C= (p.Ala1215=) n.8216C= | |
3 | g.9475595C>G | CA351691441 | SETD5 | n.2788C>G c.3929C>G (p.Ala1310Gly) n.4822C>G n.2213C>G n.6630C>G n.6075C>G c.3833C>G (p.Ala1278Gly) c.*3979C>G (n.*3979C>G) c.*3902C>G (n.*3902C>G) c.*4207C>G (n.*4207C>G) c.*3938C>G (n.*3938C>G) c.3539C>G (p.Ala1180Gly) c.2722+439C>G c.3890C>G (p.Ala1297Gly) c.2869C>G n.964C>G n.3174C>G n.220C>G n.3997C>G c.4007C>G (p.Ala1336Gly) c.3986C>G (p.Ala1329Gly) c.3968C>G (p.Ala1323Gly) c.3950C>G (p.Ala1317Gly) c.3911C>G (p.Ala1304Gly) c.3872C>G (p.Ala1291Gly) c.3596C>G (p.Ala1199Gly) c.3557C>G (p.Ala1186Gly) c.3947C>G (p.Ala1316Gly) c.3854C>G (p.Ala1285Gly) c.3329C>G (p.Ala1110Gly) c.3644C>G (p.Ala1215Gly) n.8216C>G | |
3 | g.9475595C>T | CA2239810 | SETD5 | n.2788C>T c.3929C>T (p.Ala1310Val) n.4822C>T n.2213C>T n.6630C>T n.6075C>T c.3833C>T (p.Ala1278Val) c.*3979C>T (n.*3979C>T) c.*3902C>T (n.*3902C>T) c.*4207C>T (n.*4207C>T) c.*3938C>T (n.*3938C>T) c.3539C>T (p.Ala1180Val) c.2722+439C>T c.3890C>T (p.Ala1297Val) c.2869C>T n.964C>T n.3174C>T n.220C>T n.3997C>T c.4007C>T (p.Ala1336Val) c.3986C>T (p.Ala1329Val) c.3968C>T (p.Ala1323Val) c.3950C>T (p.Ala1317Val) c.3911C>T (p.Ala1304Val) c.3872C>T (p.Ala1291Val) c.3596C>T (p.Ala1199Val) c.3557C>T (p.Ala1186Val) c.3947C>T (p.Ala1316Val) c.3854C>T (p.Ala1285Val) c.3329C>T (p.Ala1110Val) c.3644C>T (p.Ala1215Val) n.8216C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475596A>C | CA432528592 | SETD5 | n.2789A>C c.3930A>C (p.Ala1310=) n.4823A>C n.2214A>C n.6631A>C n.6076A>C c.3834A>C (p.Ala1278=) c.*3980A>C (n.*3980A>C) c.*3903A>C (n.*3903A>C) c.*4208A>C (n.*4208A>C) c.*3939A>C (n.*3939A>C) c.3540A>C (p.Ala1180=) c.2722+440A>C c.3891A>C (p.Ala1297=) c.2870A>C n.965A>C n.3175A>C n.221A>C n.3998A>C c.4008A>C (p.Ala1336=) c.3987A>C (p.Ala1329=) c.3969A>C (p.Ala1323=) c.3951A>C (p.Ala1317=) c.3912A>C (p.Ala1304=) c.3873A>C (p.Ala1291=) c.3597A>C (p.Ala1199=) c.3558A>C (p.Ala1186=) c.3948A>C (p.Ala1316=) c.3855A>C (p.Ala1285=) c.3330A>C (p.Ala1110=) c.3645A>C (p.Ala1215=) n.8217A>C | |
3 | g.9475596A>G | CA432528593 | SETD5 | n.2789A>G c.3930A>G (p.Ala1310=) n.4823A>G n.2214A>G n.6631A>G n.6076A>G c.3834A>G (p.Ala1278=) c.*3980A>G (n.*3980A>G) c.*3903A>G (n.*3903A>G) c.*4208A>G (n.*4208A>G) c.*3939A>G (n.*3939A>G) c.3540A>G (p.Ala1180=) c.2722+440A>G c.3891A>G (p.Ala1297=) c.2870A>G n.965A>G n.3175A>G n.221A>G n.3998A>G c.4008A>G (p.Ala1336=) c.3987A>G (p.Ala1329=) c.3969A>G (p.Ala1323=) c.3951A>G (p.Ala1317=) c.3912A>G (p.Ala1304=) c.3873A>G (p.Ala1291=) c.3597A>G (p.Ala1199=) c.3558A>G (p.Ala1186=) c.3948A>G (p.Ala1316=) c.3855A>G (p.Ala1285=) c.3330A>G (p.Ala1110=) c.3645A>G (p.Ala1215=) n.8217A>G | |
3 | g.9475596A>T | CA432528594 | SETD5 | n.2789A>T c.3930A>T (p.Ala1310=) n.4823A>T n.2214A>T n.6631A>T n.6076A>T c.3834A>T (p.Ala1278=) c.*3980A>T (n.*3980A>T) c.*3903A>T (n.*3903A>T) c.*4208A>T (n.*4208A>T) c.*3939A>T (n.*3939A>T) c.3540A>T (p.Ala1180=) c.2722+440A>T c.3891A>T (p.Ala1297=) c.2870A>T n.965A>T n.3175A>T n.221A>T n.3998A>T c.4008A>T (p.Ala1336=) c.3987A>T (p.Ala1329=) c.3969A>T (p.Ala1323=) c.3951A>T (p.Ala1317=) c.3912A>T (p.Ala1304=) c.3873A>T (p.Ala1291=) c.3597A>T (p.Ala1199=) c.3558A>T (p.Ala1186=) c.3948A>T (p.Ala1316=) c.3855A>T (p.Ala1285=) c.3330A>T (p.Ala1110=) c.3645A>T (p.Ala1215=) n.8217A>T | |
3 | g.9475597C>A | CA351691452 | SETD5 | n.2790C>A c.3931C>A (p.Leu1311Met) n.4824C>A n.2215C>A n.6632C>A n.6077C>A c.3835C>A (p.Leu1279Met) c.*3981C>A (n.*3981C>A) c.*3904C>A (n.*3904C>A) c.*4209C>A (n.*4209C>A) c.*3940C>A (n.*3940C>A) c.3541C>A (p.Leu1181Met) c.2722+441C>A c.3892C>A (p.Leu1298Met) c.2871C>A n.966C>A n.3176C>A n.222C>A n.3999C>A c.4009C>A (p.Leu1337Met) c.3988C>A (p.Leu1330Met) c.3970C>A (p.Leu1324Met) c.3952C>A (p.Leu1318Met) c.3913C>A (p.Leu1305Met) c.3874C>A (p.Leu1292Met) c.3598C>A (p.Leu1200Met) c.3559C>A (p.Leu1187Met) c.3949C>A (p.Leu1317Met) c.3856C>A (p.Leu1286Met) c.3331C>A (p.Leu1111Met) c.3646C>A (p.Leu1216Met) n.8218C>A | |
3 | g.9475597C>G | CA351691451 | SETD5 | n.2790C>G c.3931C>G (p.Leu1311Val) n.4824C>G n.2215C>G n.6632C>G n.6077C>G c.3835C>G (p.Leu1279Val) c.*3981C>G (n.*3981C>G) c.*3904C>G (n.*3904C>G) c.*4209C>G (n.*4209C>G) c.*3940C>G (n.*3940C>G) c.3541C>G (p.Leu1181Val) c.2722+441C>G c.3892C>G (p.Leu1298Val) c.2871C>G n.966C>G n.3176C>G n.222C>G n.3999C>G c.4009C>G (p.Leu1337Val) c.3988C>G (p.Leu1330Val) c.3970C>G (p.Leu1324Val) c.3952C>G (p.Leu1318Val) c.3913C>G (p.Leu1305Val) c.3874C>G (p.Leu1292Val) c.3598C>G (p.Leu1200Val) c.3559C>G (p.Leu1187Val) c.3949C>G (p.Leu1317Val) c.3856C>G (p.Leu1286Val) c.3331C>G (p.Leu1111Val) c.3646C>G (p.Leu1216Val) n.8218C>G | |
3 | g.9475597C>T | CA432528596 | SETD5 | n.2790C>T c.3931C>T (p.Leu1311=) n.4824C>T n.2215C>T n.6632C>T n.6077C>T c.3835C>T (p.Leu1279=) c.*3981C>T (n.*3981C>T) c.*3904C>T (n.*3904C>T) c.*4209C>T (n.*4209C>T) c.*3940C>T (n.*3940C>T) c.3541C>T (p.Leu1181=) c.2722+441C>T c.3892C>T (p.Leu1298=) c.2871C>T n.966C>T n.3176C>T n.222C>T n.3999C>T c.4009C>T (p.Leu1337=) c.3988C>T (p.Leu1330=) c.3970C>T (p.Leu1324=) c.3952C>T (p.Leu1318=) c.3913C>T (p.Leu1305=) c.3874C>T (p.Leu1292=) c.3598C>T (p.Leu1200=) c.3559C>T (p.Leu1187=) c.3949C>T (p.Leu1317=) c.3856C>T (p.Leu1286=) c.3331C>T (p.Leu1111=) c.3646C>T (p.Leu1216=) n.8218C>T | |
3 | g.9475598T>A | CA351691462 | SETD5 | n.2791T>A c.3932T>A (p.Leu1311Gln) n.4825T>A n.2216T>A n.6633T>A n.6078T>A c.3836T>A (p.Leu1279Gln) c.*3982T>A (n.*3982T>A) c.*3905T>A (n.*3905T>A) c.*4210T>A (n.*4210T>A) c.*3941T>A (n.*3941T>A) c.3542T>A (p.Leu1181Gln) c.2722+442T>A c.3893T>A (p.Leu1298Gln) c.2872T>A n.967T>A n.3177T>A n.223T>A n.4000T>A c.4010T>A (p.Leu1337Gln) c.3989T>A (p.Leu1330Gln) c.3971T>A (p.Leu1324Gln) c.3953T>A (p.Leu1318Gln) c.3914T>A (p.Leu1305Gln) c.3875T>A (p.Leu1292Gln) c.3599T>A (p.Leu1200Gln) c.3560T>A (p.Leu1187Gln) c.3950T>A (p.Leu1317Gln) c.3857T>A (p.Leu1286Gln) c.3332T>A (p.Leu1111Gln) c.3647T>A (p.Leu1216Gln) n.8219T>A | |
3 | g.9475598T>C | CA351691454 | SETD5 | n.2791T>C c.3932T>C (p.Leu1311Pro) n.4825T>C n.2216T>C n.6633T>C n.6078T>C c.3836T>C (p.Leu1279Pro) c.*3982T>C (n.*3982T>C) c.*3905T>C (n.*3905T>C) c.*4210T>C (n.*4210T>C) c.*3941T>C (n.*3941T>C) c.3542T>C (p.Leu1181Pro) c.2722+442T>C c.3893T>C (p.Leu1298Pro) c.2872T>C n.967T>C n.3177T>C n.223T>C n.4000T>C c.4010T>C (p.Leu1337Pro) c.3989T>C (p.Leu1330Pro) c.3971T>C (p.Leu1324Pro) c.3953T>C (p.Leu1318Pro) c.3914T>C (p.Leu1305Pro) c.3875T>C (p.Leu1292Pro) c.3599T>C (p.Leu1200Pro) c.3560T>C (p.Leu1187Pro) c.3950T>C (p.Leu1317Pro) c.3857T>C (p.Leu1286Pro) c.3332T>C (p.Leu1111Pro) c.3647T>C (p.Leu1216Pro) n.8219T>C | |
3 | g.9475598T>G | CA351691455 | SETD5 | n.2791T>G c.3932T>G (p.Leu1311Arg) n.4825T>G n.2216T>G n.6633T>G n.6078T>G c.3836T>G (p.Leu1279Arg) c.*3982T>G (n.*3982T>G) c.*3905T>G (n.*3905T>G) c.*4210T>G (n.*4210T>G) c.*3941T>G (n.*3941T>G) c.3542T>G (p.Leu1181Arg) c.2722+442T>G c.3893T>G (p.Leu1298Arg) c.2872T>G n.967T>G n.3177T>G n.223T>G n.4000T>G c.4010T>G (p.Leu1337Arg) c.3989T>G (p.Leu1330Arg) c.3971T>G (p.Leu1324Arg) c.3953T>G (p.Leu1318Arg) c.3914T>G (p.Leu1305Arg) c.3875T>G (p.Leu1292Arg) c.3599T>G (p.Leu1200Arg) c.3560T>G (p.Leu1187Arg) c.3950T>G (p.Leu1317Arg) c.3857T>G (p.Leu1286Arg) c.3332T>G (p.Leu1111Arg) c.3647T>G (p.Leu1216Arg) n.8219T>G | |
3 | g.9475599G>A | CA432528604 | SETD5 | n.2792G>A c.3933G>A (p.Leu1311=) n.4826G>A n.2217G>A n.6634G>A n.6079G>A c.3837G>A (p.Leu1279=) c.*3983G>A (n.*3983G>A) c.*3906G>A (n.*3906G>A) c.*4211G>A (n.*4211G>A) c.*3942G>A (n.*3942G>A) c.3543G>A (p.Leu1181=) c.2722+443G>A c.3894G>A (p.Leu1298=) c.2873G>A n.968G>A n.3178G>A n.224G>A n.4001G>A c.4011G>A (p.Leu1337=) c.3990G>A (p.Leu1330=) c.3972G>A (p.Leu1324=) c.3954G>A (p.Leu1318=) c.3915G>A (p.Leu1305=) c.3876G>A (p.Leu1292=) c.3600G>A (p.Leu1200=) c.3561G>A (p.Leu1187=) c.3951G>A (p.Leu1317=) c.3858G>A (p.Leu1286=) c.3333G>A (p.Leu1111=) c.3648G>A (p.Leu1216=) n.8220G>A | dbSNP gnomAD v3 gnomAD v4 |
3 | g.9475599G>C | CA432528605 | SETD5 | n.2792G>C c.3933G>C (p.Leu1311=) n.4826G>C n.2217G>C n.6634G>C n.6079G>C c.3837G>C (p.Leu1279=) c.*3983G>C (n.*3983G>C) c.*3906G>C (n.*3906G>C) c.*4211G>C (n.*4211G>C) c.*3942G>C (n.*3942G>C) c.3543G>C (p.Leu1181=) c.2722+443G>C c.3894G>C (p.Leu1298=) c.2873G>C n.968G>C n.3178G>C n.224G>C n.4001G>C c.4011G>C (p.Leu1337=) c.3990G>C (p.Leu1330=) c.3972G>C (p.Leu1324=) c.3954G>C (p.Leu1318=) c.3915G>C (p.Leu1305=) c.3876G>C (p.Leu1292=) c.3600G>C (p.Leu1200=) c.3561G>C (p.Leu1187=) c.3951G>C (p.Leu1317=) c.3858G>C (p.Leu1286=) c.3333G>C (p.Leu1111=) c.3648G>C (p.Leu1216=) n.8220G>C | |
3 | g.9475599G= | CA1344742463 | SETD5 | n.2792G= c.3933G= (p.Leu1311=) n.4826G= n.2217G= n.6634G= n.6079G= c.3837G= (p.Leu1279=) c.*3983G= (n.*3983G=) c.*3906G= (n.*3906G=) c.*4211G= (n.*4211G=) c.*3942G= (n.*3942G=) c.3543G= (p.Leu1181=) c.2722+443G= c.3894G= (p.Leu1298=) c.2873G= n.968G= n.3178G= n.224G= n.4001G= c.4011G= (p.Leu1337=) c.3990G= (p.Leu1330=) c.3972G= (p.Leu1324=) c.3954G= (p.Leu1318=) c.3915G= (p.Leu1305=) c.3876G= (p.Leu1292=) c.3600G= (p.Leu1200=) c.3561G= (p.Leu1187=) c.3951G= (p.Leu1317=) c.3858G= (p.Leu1286=) c.3333G= (p.Leu1111=) c.3648G= (p.Leu1216=) n.8220G= | |
3 | g.9475599G>T | CA432528602 | SETD5 | n.2792G>T c.3933G>T (p.Leu1311=) n.4826G>T n.2217G>T n.6634G>T n.6079G>T c.3837G>T (p.Leu1279=) c.*3983G>T (n.*3983G>T) c.*3906G>T (n.*3906G>T) c.*4211G>T (n.*4211G>T) c.*3942G>T (n.*3942G>T) c.3543G>T (p.Leu1181=) c.2722+443G>T c.3894G>T (p.Leu1298=) c.2873G>T n.968G>T n.3178G>T n.224G>T n.4001G>T c.4011G>T (p.Leu1337=) c.3990G>T (p.Leu1330=) c.3972G>T (p.Leu1324=) c.3954G>T (p.Leu1318=) c.3915G>T (p.Leu1305=) c.3876G>T (p.Leu1292=) c.3600G>T (p.Leu1200=) c.3561G>T (p.Leu1187=) c.3951G>T (p.Leu1317=) c.3858G>T (p.Leu1286=) c.3333G>T (p.Leu1111=) c.3648G>T (p.Leu1216=) n.8220G>T | |
3 | g.9475600A>C | CA432528607 | SETD5 | n.2793A>C c.3934A>C (p.Arg1312=) n.4827A>C n.2218A>C n.6635A>C n.6080A>C c.3838A>C (p.Arg1280=) c.*3984A>C (n.*3984A>C) c.*3907A>C (n.*3907A>C) c.*4212A>C (n.*4212A>C) c.*3943A>C (n.*3943A>C) c.3544A>C (p.Arg1182=) c.2722+444A>C c.3895A>C (p.Arg1299=) c.2874A>C n.969A>C n.3179A>C n.225A>C n.4002A>C c.4012A>C (p.Arg1338=) c.3991A>C (p.Arg1331=) c.3973A>C (p.Arg1325=) c.3955A>C (p.Arg1319=) c.3916A>C (p.Arg1306=) c.3877A>C (p.Arg1293=) c.3601A>C (p.Arg1201=) c.3562A>C (p.Arg1188=) c.3952A>C (p.Arg1318=) c.3859A>C (p.Arg1287=) c.3334A>C (p.Arg1112=) c.3649A>C (p.Arg1217=) n.8221A>C | |
3 | g.9475600A>G | CA351691468 | SETD5 | n.2793A>G c.3934A>G (p.Arg1312Gly) n.4827A>G n.2218A>G n.6635A>G n.6080A>G c.3838A>G (p.Arg1280Gly) c.*3984A>G (n.*3984A>G) c.*3907A>G (n.*3907A>G) c.*4212A>G (n.*4212A>G) c.*3943A>G (n.*3943A>G) c.3544A>G (p.Arg1182Gly) c.2722+444A>G c.3895A>G (p.Arg1299Gly) c.2874A>G n.969A>G n.3179A>G n.225A>G n.4002A>G c.4012A>G (p.Arg1338Gly) c.3991A>G (p.Arg1331Gly) c.3973A>G (p.Arg1325Gly) c.3955A>G (p.Arg1319Gly) c.3916A>G (p.Arg1306Gly) c.3877A>G (p.Arg1293Gly) c.3601A>G (p.Arg1201Gly) c.3562A>G (p.Arg1188Gly) c.3952A>G (p.Arg1318Gly) c.3859A>G (p.Arg1287Gly) c.3334A>G (p.Arg1112Gly) c.3649A>G (p.Arg1217Gly) n.8221A>G | |
3 | g.9475600A>T | CA351691471 | SETD5 | n.2793A>T c.3934A>T (p.Arg1312Ter) n.4827A>T n.2218A>T n.6635A>T n.6080A>T c.3838A>T (p.Arg1280Ter) c.*3984A>T (n.*3984A>T) c.*3907A>T (n.*3907A>T) c.*4212A>T (n.*4212A>T) c.*3943A>T (n.*3943A>T) c.3544A>T (p.Arg1182Ter) c.2722+444A>T c.3895A>T (p.Arg1299Ter) c.2874A>T n.969A>T n.3179A>T n.225A>T n.4002A>T c.4012A>T (p.Arg1338Ter) c.3991A>T (p.Arg1331Ter) c.3973A>T (p.Arg1325Ter) c.3955A>T (p.Arg1319Ter) c.3916A>T (p.Arg1306Ter) c.3877A>T (p.Arg1293Ter) c.3601A>T (p.Arg1201Ter) c.3562A>T (p.Arg1188Ter) c.3952A>T (p.Arg1318Ter) c.3859A>T (p.Arg1287Ter) c.3334A>T (p.Arg1112Ter) c.3649A>T (p.Arg1217Ter) n.8221A>T | |
3 | g.9475601G>A | CA69951918 | SETD5 | n.2794G>A c.3935G>A (p.Arg1312Lys) n.4828G>A n.2219G>A n.6636G>A n.6081G>A c.3839G>A (p.Arg1280Lys) c.*3985G>A (n.*3985G>A) c.*3908G>A (n.*3908G>A) c.*4213G>A (n.*4213G>A) c.*3944G>A (n.*3944G>A) c.3545G>A (p.Arg1182Lys) c.2722+445G>A c.3896G>A (p.Arg1299Lys) c.2875G>A n.970G>A n.3180G>A n.226G>A n.4003G>A c.4013G>A (p.Arg1338Lys) c.3992G>A (p.Arg1331Lys) c.3974G>A (p.Arg1325Lys) c.3956G>A (p.Arg1319Lys) c.3917G>A (p.Arg1306Lys) c.3878G>A (p.Arg1293Lys) c.3602G>A (p.Arg1201Lys) c.3563G>A (p.Arg1188Lys) c.3953G>A (p.Arg1318Lys) c.3860G>A (p.Arg1287Lys) c.3335G>A (p.Arg1112Lys) c.3650G>A (p.Arg1217Lys) n.8222G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475601G>C | CA351691474 | SETD5 | n.2794G>C c.3935G>C (p.Arg1312Thr) n.4828G>C n.2219G>C n.6636G>C n.6081G>C c.3839G>C (p.Arg1280Thr) c.*3985G>C (n.*3985G>C) c.*3908G>C (n.*3908G>C) c.*4213G>C (n.*4213G>C) c.*3944G>C (n.*3944G>C) c.3545G>C (p.Arg1182Thr) c.2722+445G>C c.3896G>C (p.Arg1299Thr) c.2875G>C n.970G>C n.3180G>C n.226G>C n.4003G>C c.4013G>C (p.Arg1338Thr) c.3992G>C (p.Arg1331Thr) c.3974G>C (p.Arg1325Thr) c.3956G>C (p.Arg1319Thr) c.3917G>C (p.Arg1306Thr) c.3878G>C (p.Arg1293Thr) c.3602G>C (p.Arg1201Thr) c.3563G>C (p.Arg1188Thr) c.3953G>C (p.Arg1318Thr) c.3860G>C (p.Arg1287Thr) c.3335G>C (p.Arg1112Thr) c.3650G>C (p.Arg1217Thr) n.8222G>C | |
3 | g.9475601G= | CA1344742466 | SETD5 | n.2794G= c.3935G= (p.Arg1312=) n.4828G= n.2219G= n.6636G= n.6081G= c.3839G= (p.Arg1280=) c.*3985G= (n.*3985G=) c.*3908G= (n.*3908G=) c.*4213G= (n.*4213G=) c.*3944G= (n.*3944G=) c.3545G= (p.Arg1182=) c.2722+445G= c.3896G= (p.Arg1299=) c.2875G= n.970G= n.3180G= n.226G= n.4003G= c.4013G= (p.Arg1338=) c.3992G= (p.Arg1331=) c.3974G= (p.Arg1325=) c.3956G= (p.Arg1319=) c.3917G= (p.Arg1306=) c.3878G= (p.Arg1293=) c.3602G= (p.Arg1201=) c.3563G= (p.Arg1188=) c.3953G= (p.Arg1318=) c.3860G= (p.Arg1287=) c.3335G= (p.Arg1112=) c.3650G= (p.Arg1217=) n.8222G= | |
3 | g.9475601G>T | CA351691480 | SETD5 | n.2794G>T c.3935G>T (p.Arg1312Ile) n.4828G>T n.2219G>T n.6636G>T n.6081G>T c.3839G>T (p.Arg1280Ile) c.*3985G>T (n.*3985G>T) c.*3908G>T (n.*3908G>T) c.*4213G>T (n.*4213G>T) c.*3944G>T (n.*3944G>T) c.3545G>T (p.Arg1182Ile) c.2722+445G>T c.3896G>T (p.Arg1299Ile) c.2875G>T n.970G>T n.3180G>T n.226G>T n.4003G>T c.4013G>T (p.Arg1338Ile) c.3992G>T (p.Arg1331Ile) c.3974G>T (p.Arg1325Ile) c.3956G>T (p.Arg1319Ile) c.3917G>T (p.Arg1306Ile) c.3878G>T (p.Arg1293Ile) c.3602G>T (p.Arg1201Ile) c.3563G>T (p.Arg1188Ile) c.3953G>T (p.Arg1318Ile) c.3860G>T (p.Arg1287Ile) c.3335G>T (p.Arg1112Ile) c.3650G>T (p.Arg1217Ile) n.8222G>T | |
3 | g.9475602A>C | CA351691483 | SETD5 | n.2795A>C c.3936A>C (p.Arg1312Ser) n.4829A>C n.2220A>C n.6637A>C n.6082A>C c.3840A>C (p.Arg1280Ser) c.*3986A>C (n.*3986A>C) c.*3909A>C (n.*3909A>C) c.*4214A>C (n.*4214A>C) c.*3945A>C (n.*3945A>C) c.3546A>C (p.Arg1182Ser) c.2722+446A>C c.3897A>C (p.Arg1299Ser) c.2876A>C n.971A>C n.3181A>C n.227A>C n.4004A>C c.4014A>C (p.Arg1338Ser) c.3993A>C (p.Arg1331Ser) c.3975A>C (p.Arg1325Ser) c.3957A>C (p.Arg1319Ser) c.3918A>C (p.Arg1306Ser) c.3879A>C (p.Arg1293Ser) c.3603A>C (p.Arg1201Ser) c.3564A>C (p.Arg1188Ser) c.3954A>C (p.Arg1318Ser) c.3861A>C (p.Arg1287Ser) c.3336A>C (p.Arg1112Ser) c.3651A>C (p.Arg1217Ser) n.8223A>C | |
3 | g.9475602A>G | CA432528613 | SETD5 | n.2795A>G c.3936A>G (p.Arg1312=) n.4829A>G n.2220A>G n.6637A>G n.6082A>G c.3840A>G (p.Arg1280=) c.*3986A>G (n.*3986A>G) c.*3909A>G (n.*3909A>G) c.*4214A>G (n.*4214A>G) c.*3945A>G (n.*3945A>G) c.3546A>G (p.Arg1182=) c.2722+446A>G c.3897A>G (p.Arg1299=) c.2876A>G n.971A>G n.3181A>G n.227A>G n.4004A>G c.4014A>G (p.Arg1338=) c.3993A>G (p.Arg1331=) c.3975A>G (p.Arg1325=) c.3957A>G (p.Arg1319=) c.3918A>G (p.Arg1306=) c.3879A>G (p.Arg1293=) c.3603A>G (p.Arg1201=) c.3564A>G (p.Arg1188=) c.3954A>G (p.Arg1318=) c.3861A>G (p.Arg1287=) c.3336A>G (p.Arg1112=) c.3651A>G (p.Arg1217=) n.8223A>G | |
3 | g.9475602A>T | CA351691487 | SETD5 | n.2795A>T c.3936A>T (p.Arg1312Ser) n.4829A>T n.2220A>T n.6637A>T n.6082A>T c.3840A>T (p.Arg1280Ser) c.*3986A>T (n.*3986A>T) c.*3909A>T (n.*3909A>T) c.*4214A>T (n.*4214A>T) c.*3945A>T (n.*3945A>T) c.3546A>T (p.Arg1182Ser) c.2722+446A>T c.3897A>T (p.Arg1299Ser) c.2876A>T n.971A>T n.3181A>T n.227A>T n.4004A>T c.4014A>T (p.Arg1338Ser) c.3993A>T (p.Arg1331Ser) c.3975A>T (p.Arg1325Ser) c.3957A>T (p.Arg1319Ser) c.3918A>T (p.Arg1306Ser) c.3879A>T (p.Arg1293Ser) c.3603A>T (p.Arg1201Ser) c.3564A>T (p.Arg1188Ser) c.3954A>T (p.Arg1318Ser) c.3861A>T (p.Arg1287Ser) c.3336A>T (p.Arg1112Ser) c.3651A>T (p.Arg1217Ser) n.8223A>T | |
3 | g.9475603C>A | CA351691491 | SETD5 | n.2796C>A c.3937C>A (p.Pro1313Thr) n.4830C>A n.2221C>A n.6638C>A n.6083C>A c.3841C>A (p.Pro1281Thr) c.*3987C>A (n.*3987C>A) c.*3910C>A (n.*3910C>A) c.*4215C>A (n.*4215C>A) c.*3946C>A (n.*3946C>A) c.3547C>A (p.Pro1183Thr) c.2722+447C>A c.3898C>A (p.Pro1300Thr) c.2877C>A n.972C>A n.3182C>A n.228C>A n.4005C>A c.4015C>A (p.Pro1339Thr) c.3994C>A (p.Pro1332Thr) c.3976C>A (p.Pro1326Thr) c.3958C>A (p.Pro1320Thr) c.3919C>A (p.Pro1307Thr) c.3880C>A (p.Pro1294Thr) c.3604C>A (p.Pro1202Thr) c.3565C>A (p.Pro1189Thr) c.3955C>A (p.Pro1319Thr) c.3862C>A (p.Pro1288Thr) c.3337C>A (p.Pro1113Thr) c.3652C>A (p.Pro1218Thr) n.8224C>A | |
3 | g.9475603C>G | CA351691492 | SETD5 | n.2796C>G c.3937C>G (p.Pro1313Ala) n.4830C>G n.2221C>G n.6638C>G n.6083C>G c.3841C>G (p.Pro1281Ala) c.*3987C>G (n.*3987C>G) c.*3910C>G (n.*3910C>G) c.*4215C>G (n.*4215C>G) c.*3946C>G (n.*3946C>G) c.3547C>G (p.Pro1183Ala) c.2722+447C>G c.3898C>G (p.Pro1300Ala) c.2877C>G n.972C>G n.3182C>G n.228C>G n.4005C>G c.4015C>G (p.Pro1339Ala) c.3994C>G (p.Pro1332Ala) c.3976C>G (p.Pro1326Ala) c.3958C>G (p.Pro1320Ala) c.3919C>G (p.Pro1307Ala) c.3880C>G (p.Pro1294Ala) c.3604C>G (p.Pro1202Ala) c.3565C>G (p.Pro1189Ala) c.3955C>G (p.Pro1319Ala) c.3862C>G (p.Pro1288Ala) c.3337C>G (p.Pro1113Ala) c.3652C>G (p.Pro1218Ala) n.8224C>G | |
3 | g.9475603C>T | CA351691494 | SETD5 | n.2796C>T c.3937C>T (p.Pro1313Ser) n.4830C>T n.2221C>T n.6638C>T n.6083C>T c.3841C>T (p.Pro1281Ser) c.*3987C>T (n.*3987C>T) c.*3910C>T (n.*3910C>T) c.*4215C>T (n.*4215C>T) c.*3946C>T (n.*3946C>T) c.3547C>T (p.Pro1183Ser) c.2722+447C>T c.3898C>T (p.Pro1300Ser) c.2877C>T n.972C>T n.3182C>T n.228C>T n.4005C>T c.4015C>T (p.Pro1339Ser) c.3994C>T (p.Pro1332Ser) c.3976C>T (p.Pro1326Ser) c.3958C>T (p.Pro1320Ser) c.3919C>T (p.Pro1307Ser) c.3880C>T (p.Pro1294Ser) c.3604C>T (p.Pro1202Ser) c.3565C>T (p.Pro1189Ser) c.3955C>T (p.Pro1319Ser) c.3862C>T (p.Pro1288Ser) c.3337C>T (p.Pro1113Ser) c.3652C>T (p.Pro1218Ser) n.8224C>T | |
3 | g.9475604C>A | CA351691516 | SETD5 | n.2797C>A c.3938C>A (p.Pro1313His) n.4831C>A n.2222C>A n.6639C>A n.6084C>A c.3842C>A (p.Pro1281His) c.*3988C>A (n.*3988C>A) c.*3911C>A (n.*3911C>A) c.*4216C>A (n.*4216C>A) c.*3947C>A (n.*3947C>A) c.3548C>A (p.Pro1183His) c.2722+448C>A c.3899C>A (p.Pro1300His) c.2878C>A n.973C>A n.3183C>A n.229C>A n.4006C>A c.4016C>A (p.Pro1339His) c.3995C>A (p.Pro1332His) c.3977C>A (p.Pro1326His) c.3959C>A (p.Pro1320His) c.3920C>A (p.Pro1307His) c.3881C>A (p.Pro1294His) c.3605C>A (p.Pro1202His) c.3566C>A (p.Pro1189His) c.3956C>A (p.Pro1319His) c.3863C>A (p.Pro1288His) c.3338C>A (p.Pro1113His) c.3653C>A (p.Pro1218His) n.8225C>A | |
3 | g.9475604C= | CA1344742470 | SETD5 | n.2797C= c.3938C= (p.Pro1313=) n.4831C= n.2222C= n.6639C= n.6084C= c.3842C= (p.Pro1281=) c.*3988C= (n.*3988C=) c.*3911C= (n.*3911C=) c.*4216C= (n.*4216C=) c.*3947C= (n.*3947C=) c.3548C= (p.Pro1183=) c.2722+448C= c.3899C= (p.Pro1300=) c.2878C= n.973C= n.3183C= n.229C= n.4006C= c.4016C= (p.Pro1339=) c.3995C= (p.Pro1332=) c.3977C= (p.Pro1326=) c.3959C= (p.Pro1320=) c.3920C= (p.Pro1307=) c.3881C= (p.Pro1294=) c.3605C= (p.Pro1202=) c.3566C= (p.Pro1189=) c.3956C= (p.Pro1319=) c.3863C= (p.Pro1288=) c.3338C= (p.Pro1113=) c.3653C= (p.Pro1218=) n.8225C= | |
3 | g.9475604C>G | CA2239812 | SETD5 | n.2797C>G c.3938C>G (p.Pro1313Arg) n.4831C>G n.2222C>G n.6639C>G n.6084C>G c.3842C>G (p.Pro1281Arg) c.*3988C>G (n.*3988C>G) c.*3911C>G (n.*3911C>G) c.*4216C>G (n.*4216C>G) c.*3947C>G (n.*3947C>G) c.3548C>G (p.Pro1183Arg) c.2722+448C>G c.3899C>G (p.Pro1300Arg) c.2878C>G n.973C>G n.3183C>G n.229C>G n.4006C>G c.4016C>G (p.Pro1339Arg) c.3995C>G (p.Pro1332Arg) c.3977C>G (p.Pro1326Arg) c.3959C>G (p.Pro1320Arg) c.3920C>G (p.Pro1307Arg) c.3881C>G (p.Pro1294Arg) c.3605C>G (p.Pro1202Arg) c.3566C>G (p.Pro1189Arg) c.3956C>G (p.Pro1319Arg) c.3863C>G (p.Pro1288Arg) c.3338C>G (p.Pro1113Arg) c.3653C>G (p.Pro1218Arg) n.8225C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.9475604C>T | CA2239811 | SETD5 | n.2797C>T c.3938C>T (p.Pro1313Leu) n.4831C>T n.2222C>T n.6639C>T n.6084C>T c.3842C>T (p.Pro1281Leu) c.*3988C>T (n.*3988C>T) c.*3911C>T (n.*3911C>T) c.*4216C>T (n.*4216C>T) c.*3947C>T (n.*3947C>T) c.3548C>T (p.Pro1183Leu) c.2722+448C>T c.3899C>T (p.Pro1300Leu) c.2878C>T n.973C>T n.3183C>T n.229C>T n.4006C>T c.4016C>T (p.Pro1339Leu) c.3995C>T (p.Pro1332Leu) c.3977C>T (p.Pro1326Leu) c.3959C>T (p.Pro1320Leu) c.3920C>T (p.Pro1307Leu) c.3881C>T (p.Pro1294Leu) c.3605C>T (p.Pro1202Leu) c.3566C>T (p.Pro1189Leu) c.3956C>T (p.Pro1319Leu) c.3863C>T (p.Pro1288Leu) c.3338C>T (p.Pro1113Leu) c.3653C>T (p.Pro1218Leu) n.8225C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.9475605T>A | CA432528622 | SETD5 | n.2798T>A c.3939T>A (p.Pro1313=) n.4832T>A n.2223T>A n.6640T>A n.6085T>A c.3843T>A (p.Pro1281=) c.*3989T>A (n.*3989T>A) c.*3912T>A (n.*3912T>A) c.*4217T>A (n.*4217T>A) c.*3948T>A (n.*3948T>A) c.3549T>A (p.Pro1183=) c.2722+449T>A c.3900T>A (p.Pro1300=) c.2879T>A n.974T>A n.3184T>A n.230T>A n.4007T>A c.4017T>A (p.Pro1339=) c.3996T>A (p.Pro1332=) c.3978T>A (p.Pro1326=) c.3960T>A (p.Pro1320=) c.3921T>A (p.Pro1307=) c.3882T>A (p.Pro1294=) c.3606T>A (p.Pro1202=) c.3567T>A (p.Pro1189=) c.3957T>A (p.Pro1319=) c.3864T>A (p.Pro1288=) c.3339T>A (p.Pro1113=) c.3654T>A (p.Pro1218=) n.8226T>A | |
3 | g.9475605T>C | CA432528625 | SETD5 | n.2798T>C c.3939T>C (p.Pro1313=) n.4832T>C n.2223T>C n.6640T>C n.6085T>C c.3843T>C (p.Pro1281=) c.*3989T>C (n.*3989T>C) c.*3912T>C (n.*3912T>C) c.*4217T>C (n.*4217T>C) c.*3948T>C (n.*3948T>C) c.3549T>C (p.Pro1183=) c.2722+449T>C c.3900T>C (p.Pro1300=) c.2879T>C n.974T>C n.3184T>C n.230T>C n.4007T>C c.4017T>C (p.Pro1339=) c.3996T>C (p.Pro1332=) c.3978T>C (p.Pro1326=) c.3960T>C (p.Pro1320=) c.3921T>C (p.Pro1307=) c.3882T>C (p.Pro1294=) c.3606T>C (p.Pro1202=) c.3567T>C (p.Pro1189=) c.3957T>C (p.Pro1319=) c.3864T>C (p.Pro1288=) c.3339T>C (p.Pro1113=) c.3654T>C (p.Pro1218=) n.8226T>C | |
3 | g.9475605T>G | CA432528623 | SETD5 | n.2798T>G c.3939T>G (p.Pro1313=) n.4832T>G n.2223T>G n.6640T>G n.6085T>G c.3843T>G (p.Pro1281=) c.*3989T>G (n.*3989T>G) c.*3912T>G (n.*3912T>G) c.*4217T>G (n.*4217T>G) c.*3948T>G (n.*3948T>G) c.3549T>G (p.Pro1183=) c.2722+449T>G c.3900T>G (p.Pro1300=) c.2879T>G n.974T>G n.3184T>G n.230T>G n.4007T>G c.4017T>G (p.Pro1339=) c.3996T>G (p.Pro1332=) c.3978T>G (p.Pro1326=) c.3960T>G (p.Pro1320=) c.3921T>G (p.Pro1307=) c.3882T>G (p.Pro1294=) c.3606T>G (p.Pro1202=) c.3567T>G (p.Pro1189=) c.3957T>G (p.Pro1319=) c.3864T>G (p.Pro1288=) c.3339T>G (p.Pro1113=) c.3654T>G (p.Pro1218=) n.8226T>G | |
3 | g.9475606G>A | CA351691527 | SETD5 | n.2799G>A c.3940G>A (p.Gly1314Arg) n.4833G>A n.2224G>A n.6641G>A n.6086G>A c.3844G>A (p.Gly1282Arg) c.*3990G>A (n.*3990G>A) c.*3913G>A (n.*3913G>A) c.*4218G>A (n.*4218G>A) c.*3949G>A (n.*3949G>A) c.3550G>A (p.Gly1184Arg) c.2722+450G>A c.3901G>A (p.Gly1301Arg) c.2880G>A n.975G>A n.3185G>A n.231G>A n.4008G>A c.4018G>A (p.Gly1340Arg) c.3997G>A (p.Gly1333Arg) c.3979G>A (p.Gly1327Arg) c.3961G>A (p.Gly1321Arg) c.3922G>A (p.Gly1308Arg) c.3883G>A (p.Gly1295Arg) c.3607G>A (p.Gly1203Arg) c.3568G>A (p.Gly1190Arg) c.3958G>A (p.Gly1320Arg) c.3865G>A (p.Gly1289Arg) c.3340G>A (p.Gly1114Arg) c.3655G>A (p.Gly1219Arg) n.8227G>A | |
3 | g.9475606G>C | CA351691538 | SETD5 | n.2799G>C c.3940G>C (p.Gly1314Arg) n.4833G>C n.2224G>C n.6641G>C n.6086G>C c.3844G>C (p.Gly1282Arg) c.*3990G>C (n.*3990G>C) c.*3913G>C (n.*3913G>C) c.*4218G>C (n.*4218G>C) c.*3949G>C (n.*3949G>C) c.3550G>C (p.Gly1184Arg) c.2722+450G>C c.3901G>C (p.Gly1301Arg) c.2880G>C n.975G>C n.3185G>C n.231G>C n.4008G>C c.4018G>C (p.Gly1340Arg) c.3997G>C (p.Gly1333Arg) c.3979G>C (p.Gly1327Arg) c.3961G>C (p.Gly1321Arg) c.3922G>C (p.Gly1308Arg) c.3883G>C (p.Gly1295Arg) c.3607G>C (p.Gly1203Arg) c.3568G>C (p.Gly1190Arg) c.3958G>C (p.Gly1320Arg) c.3865G>C (p.Gly1289Arg) c.3340G>C (p.Gly1114Arg) c.3655G>C (p.Gly1219Arg) n.8227G>C | |
3 | g.9475606G>T | CA351691544 | SETD5 | n.2799G>T c.3940G>T (p.Gly1314Ter) n.4833G>T n.2224G>T n.6641G>T n.6086G>T c.3844G>T (p.Gly1282Ter) c.*3990G>T (n.*3990G>T) c.*3913G>T (n.*3913G>T) c.*4218G>T (n.*4218G>T) c.*3949G>T (n.*3949G>T) c.3550G>T (p.Gly1184Ter) c.2722+450G>T c.3901G>T (p.Gly1301Ter) c.2880G>T n.975G>T n.3185G>T n.231G>T n.4008G>T c.4018G>T (p.Gly1340Ter) c.3997G>T (p.Gly1333Ter) c.3979G>T (p.Gly1327Ter) c.3961G>T (p.Gly1321Ter) c.3922G>T (p.Gly1308Ter) c.3883G>T (p.Gly1295Ter) c.3607G>T (p.Gly1203Ter) c.3568G>T (p.Gly1190Ter) c.3958G>T (p.Gly1320Ter) c.3865G>T (p.Gly1289Ter) c.3340G>T (p.Gly1114Ter) c.3655G>T (p.Gly1219Ter) n.8227G>T | |
3 | g.9475607G>A | CA351691550 | SETD5 | n.2800G>A c.3941G>A (p.Gly1314Glu) n.4834G>A n.2225G>A n.6642G>A n.6087G>A c.3845G>A (p.Gly1282Glu) c.*3991G>A (n.*3991G>A) c.*3914G>A (n.*3914G>A) c.*4219G>A (n.*4219G>A) c.*3950G>A (n.*3950G>A) c.3551G>A (p.Gly1184Glu) c.2722+451G>A c.3902G>A (p.Gly1301Glu) c.2881G>A n.976G>A n.3186G>A n.232G>A n.4009G>A c.4019G>A (p.Gly1340Glu) c.3998G>A (p.Gly1333Glu) c.3980G>A (p.Gly1327Glu) c.3962G>A (p.Gly1321Glu) c.3923G>A (p.Gly1308Glu) c.3884G>A (p.Gly1295Glu) c.3608G>A (p.Gly1203Glu) c.3569G>A (p.Gly1190Glu) c.3959G>A (p.Gly1320Glu) c.3866G>A (p.Gly1289Glu) c.3341G>A (p.Gly1114Glu) c.3656G>A (p.Gly1219Glu) n.8228G>A | |
3 | g.9475607G>C | CA351691551 | SETD5 | n.2800G>C c.3941G>C (p.Gly1314Ala) n.4834G>C n.2225G>C n.6642G>C n.6087G>C c.3845G>C (p.Gly1282Ala) c.*3991G>C (n.*3991G>C) c.*3914G>C (n.*3914G>C) c.*4219G>C (n.*4219G>C) c.*3950G>C (n.*3950G>C) c.3551G>C (p.Gly1184Ala) c.2722+451G>C c.3902G>C (p.Gly1301Ala) c.2881G>C n.976G>C n.3186G>C n.232G>C n.4009G>C c.4019G>C (p.Gly1340Ala) c.3998G>C (p.Gly1333Ala) c.3980G>C (p.Gly1327Ala) c.3962G>C (p.Gly1321Ala) c.3923G>C (p.Gly1308Ala) c.3884G>C (p.Gly1295Ala) c.3608G>C (p.Gly1203Ala) c.3569G>C (p.Gly1190Ala) c.3959G>C (p.Gly1320Ala) c.3866G>C (p.Gly1289Ala) c.3341G>C (p.Gly1114Ala) c.3656G>C (p.Gly1219Ala) n.8228G>C | gnomAD v4 |
3 | g.9475607G>T | CA351691553 | SETD5 | n.2800G>T c.3941G>T (p.Gly1314Val) n.4834G>T n.2225G>T n.6642G>T n.6087G>T c.3845G>T (p.Gly1282Val) c.*3991G>T (n.*3991G>T) c.*3914G>T (n.*3914G>T) c.*4219G>T (n.*4219G>T) c.*3950G>T (n.*3950G>T) c.3551G>T (p.Gly1184Val) c.2722+451G>T c.3902G>T (p.Gly1301Val) c.2881G>T n.976G>T n.3186G>T n.232G>T n.4009G>T c.4019G>T (p.Gly1340Val) c.3998G>T (p.Gly1333Val) c.3980G>T (p.Gly1327Val) c.3962G>T (p.Gly1321Val) c.3923G>T (p.Gly1308Val) c.3884G>T (p.Gly1295Val) c.3608G>T (p.Gly1203Val) c.3569G>T (p.Gly1190Val) c.3959G>T (p.Gly1320Val) c.3866G>T (p.Gly1289Val) c.3341G>T (p.Gly1114Val) c.3656G>T (p.Gly1219Val) n.8228G>T | |
3 | g.9475608A>C | CA432528633 | SETD5 | n.2801A>C c.3942A>C (p.Gly1314=) n.4835A>C n.2226A>C n.6643A>C n.6088A>C c.3846A>C (p.Gly1282=) c.*3992A>C (n.*3992A>C) c.*3915A>C (n.*3915A>C) c.*4220A>C (n.*4220A>C) c.*3951A>C (n.*3951A>C) c.3552A>C (p.Gly1184=) c.2722+452A>C c.3903A>C (p.Gly1301=) c.2882A>C n.977A>C n.3187A>C n.233A>C n.4010A>C c.4020A>C (p.Gly1340=) c.3999A>C (p.Gly1333=) c.3981A>C (p.Gly1327=) c.3963A>C (p.Gly1321=) c.3924A>C (p.Gly1308=) c.3885A>C (p.Gly1295=) c.3609A>C (p.Gly1203=) c.3570A>C (p.Gly1190=) c.3960A>C (p.Gly1320=) c.3867A>C (p.Gly1289=) c.3342A>C (p.Gly1114=) c.3657A>C (p.Gly1219=) n.8229A>C | |
3 | g.9475608A>G | CA432528634 | SETD5 | n.2801A>G c.3942A>G (p.Gly1314=) n.4835A>G n.2226A>G n.6643A>G n.6088A>G c.3846A>G (p.Gly1282=) c.*3992A>G (n.*3992A>G) c.*3915A>G (n.*3915A>G) c.*4220A>G (n.*4220A>G) c.*3951A>G (n.*3951A>G) c.3552A>G (p.Gly1184=) c.2722+452A>G c.3903A>G (p.Gly1301=) c.2882A>G n.977A>G n.3187A>G n.233A>G n.4010A>G c.4020A>G (p.Gly1340=) c.3999A>G (p.Gly1333=) c.3981A>G (p.Gly1327=) c.3963A>G (p.Gly1321=) c.3924A>G (p.Gly1308=) c.3885A>G (p.Gly1295=) c.3609A>G (p.Gly1203=) c.3570A>G (p.Gly1190=) c.3960A>G (p.Gly1320=) c.3867A>G (p.Gly1289=) c.3342A>G (p.Gly1114=) c.3657A>G (p.Gly1219=) n.8229A>G | |
3 | g.9475608A>T | CA432528635 | SETD5 | n.2801A>T c.3942A>T (p.Gly1314=) n.4835A>T n.2226A>T n.6643A>T n.6088A>T c.3846A>T (p.Gly1282=) c.*3992A>T (n.*3992A>T) c.*3915A>T (n.*3915A>T) c.*4220A>T (n.*4220A>T) c.*3951A>T (n.*3951A>T) c.3552A>T (p.Gly1184=) c.2722+452A>T c.3903A>T (p.Gly1301=) c.2882A>T n.977A>T n.3187A>T n.233A>T n.4010A>T c.4020A>T (p.Gly1340=) c.3999A>T (p.Gly1333=) c.3981A>T (p.Gly1327=) c.3963A>T (p.Gly1321=) c.3924A>T (p.Gly1308=) c.3885A>T (p.Gly1295=) c.3609A>T (p.Gly1203=) c.3570A>T (p.Gly1190=) c.3960A>T (p.Gly1320=) c.3867A>T (p.Gly1289=) c.3342A>T (p.Gly1114=) c.3657A>T (p.Gly1219=) n.8229A>T | |
3 | g.9475609A= | CA1344742473 | SETD5 | n.2802A= c.3943A= (p.Asn1315=) n.4836A= n.2227A= n.6644A= n.6089A= c.3847A= (p.Asn1283=) c.*3993A= (n.*3993A=) c.*3916A= (n.*3916A=) c.*4221A= (n.*4221A=) c.*3952A= (n.*3952A=) c.3553A= (p.Asn1185=) c.2722+453A= c.3904A= (p.Asn1302=) c.2883A= n.978A= n.3188A= n.234A= n.4011A= c.4021A= (p.Asn1341=) c.4000A= (p.Asn1334=) c.3982A= (p.Asn1328=) c.3964A= (p.Asn1322=) c.3925A= (p.Asn1309=) c.3886A= (p.Asn1296=) c.3610A= (p.Asn1204=) c.3571A= (p.Asn1191=) c.3961A= (p.Asn1321=) c.3868A= (p.Asn1290=) c.3343A= (p.Asn1115=) c.3658A= (p.Asn1220=) n.8230A= | |
3 | g.9475609A>C | CA351691559 | SETD5 | n.2802A>C c.3943A>C (p.Asn1315His) n.4836A>C n.2227A>C n.6644A>C n.6089A>C c.3847A>C (p.Asn1283His) c.*3993A>C (n.*3993A>C) c.*3916A>C (n.*3916A>C) c.*4221A>C (n.*4221A>C) c.*3952A>C (n.*3952A>C) c.3553A>C (p.Asn1185His) c.2722+453A>C c.3904A>C (p.Asn1302His) c.2883A>C n.978A>C n.3188A>C n.234A>C n.4011A>C c.4021A>C (p.Asn1341His) c.4000A>C (p.Asn1334His) c.3982A>C (p.Asn1328His) c.3964A>C (p.Asn1322His) c.3925A>C (p.Asn1309His) c.3886A>C (p.Asn1296His) c.3610A>C (p.Asn1204His) c.3571A>C (p.Asn1191His) c.3961A>C (p.Asn1321His) c.3868A>C (p.Asn1290His) c.3343A>C (p.Asn1115His) c.3658A>C (p.Asn1220His) n.8230A>C | |
3 | g.9475609A>G | CA351691561 | SETD5 | n.2802A>G c.3943A>G (p.Asn1315Asp) n.4836A>G n.2227A>G n.6644A>G n.6089A>G c.3847A>G (p.Asn1283Asp) c.*3993A>G (n.*3993A>G) c.*3916A>G (n.*3916A>G) c.*4221A>G (n.*4221A>G) c.*3952A>G (n.*3952A>G) c.3553A>G (p.Asn1185Asp) c.2722+453A>G c.3904A>G (p.Asn1302Asp) c.2883A>G n.978A>G n.3188A>G n.234A>G n.4011A>G c.4021A>G (p.Asn1341Asp) c.4000A>G (p.Asn1334Asp) c.3982A>G (p.Asn1328Asp) c.3964A>G (p.Asn1322Asp) c.3925A>G (p.Asn1309Asp) c.3886A>G (p.Asn1296Asp) c.3610A>G (p.Asn1204Asp) c.3571A>G (p.Asn1191Asp) c.3961A>G (p.Asn1321Asp) c.3868A>G (p.Asn1290Asp) c.3343A>G (p.Asn1115Asp) c.3658A>G (p.Asn1220Asp) n.8230A>G | dbSNP |
3 | g.9475609A>T | CA351691563 | SETD5 | n.2802A>T c.3943A>T (p.Asn1315Tyr) n.4836A>T n.2227A>T n.6644A>T n.6089A>T c.3847A>T (p.Asn1283Tyr) c.*3993A>T (n.*3993A>T) c.*3916A>T (n.*3916A>T) c.*4221A>T (n.*4221A>T) c.*3952A>T (n.*3952A>T) c.3553A>T (p.Asn1185Tyr) c.2722+453A>T c.3904A>T (p.Asn1302Tyr) c.2883A>T n.978A>T n.3188A>T n.234A>T n.4011A>T c.4021A>T (p.Asn1341Tyr) c.4000A>T (p.Asn1334Tyr) c.3982A>T (p.Asn1328Tyr) c.3964A>T (p.Asn1322Tyr) c.3925A>T (p.Asn1309Tyr) c.3886A>T (p.Asn1296Tyr) c.3610A>T (p.Asn1204Tyr) c.3571A>T (p.Asn1191Tyr) c.3961A>T (p.Asn1321Tyr) c.3868A>T (p.Asn1290Tyr) c.3343A>T (p.Asn1115Tyr) c.3658A>T (p.Asn1220Tyr) n.8230A>T | |
3 | g.9475610A= | CA1344742475 | SETD5 | n.2803A= c.3944A= (p.Asn1315=) n.4837A= n.2228A= n.6645A= n.6090A= c.3848A= (p.Asn1283=) c.*3994A= (n.*3994A=) c.*3917A= (n.*3917A=) c.*4222A= (n.*4222A=) c.*3953A= (n.*3953A=) c.3554A= (p.Asn1185=) c.2722+454A= c.3905A= (p.Asn1302=) c.2884A= n.979A= n.3189A= n.235A= n.4012A= c.4022A= (p.Asn1341=) c.4001A= (p.Asn1334=) c.3983A= (p.Asn1328=) c.3965A= (p.Asn1322=) c.3926A= (p.Asn1309=) c.3887A= (p.Asn1296=) c.3611A= (p.Asn1204=) c.3572A= (p.Asn1191=) c.3962A= (p.Asn1321=) c.3869A= (p.Asn1290=) c.3344A= (p.Asn1115=) c.3659A= (p.Asn1220=) n.8231A= | |
3 | g.9475610A>C | CA351691576 | SETD5 | n.2803A>C c.3944A>C (p.Asn1315Thr) n.4837A>C n.2228A>C n.6645A>C n.6090A>C c.3848A>C (p.Asn1283Thr) c.*3994A>C (n.*3994A>C) c.*3917A>C (n.*3917A>C) c.*4222A>C (n.*4222A>C) c.*3953A>C (n.*3953A>C) c.3554A>C (p.Asn1185Thr) c.2722+454A>C c.3905A>C (p.Asn1302Thr) c.2884A>C n.979A>C n.3189A>C n.235A>C n.4012A>C c.4022A>C (p.Asn1341Thr) c.4001A>C (p.Asn1334Thr) c.3983A>C (p.Asn1328Thr) c.3965A>C (p.Asn1322Thr) c.3926A>C (p.Asn1309Thr) c.3887A>C (p.Asn1296Thr) c.3611A>C (p.Asn1204Thr) c.3572A>C (p.Asn1191Thr) c.3962A>C (p.Asn1321Thr) c.3869A>C (p.Asn1290Thr) c.3344A>C (p.Asn1115Thr) c.3659A>C (p.Asn1220Thr) n.8231A>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.9475610A>G | CA351691579 | SETD5 | n.2803A>G c.3944A>G (p.Asn1315Ser) n.4837A>G n.2228A>G n.6645A>G n.6090A>G c.3848A>G (p.Asn1283Ser) c.*3994A>G (n.*3994A>G) c.*3917A>G (n.*3917A>G) c.*4222A>G (n.*4222A>G) c.*3953A>G (n.*3953A>G) c.3554A>G (p.Asn1185Ser) c.2722+454A>G c.3905A>G (p.Asn1302Ser) c.2884A>G n.979A>G n.3189A>G n.235A>G n.4012A>G c.4022A>G (p.Asn1341Ser) c.4001A>G (p.Asn1334Ser) c.3983A>G (p.Asn1328Ser) c.3965A>G (p.Asn1322Ser) c.3926A>G (p.Asn1309Ser) c.3887A>G (p.Asn1296Ser) c.3611A>G (p.Asn1204Ser) c.3572A>G (p.Asn1191Ser) c.3962A>G (p.Asn1321Ser) c.3869A>G (p.Asn1290Ser) c.3344A>G (p.Asn1115Ser) c.3659A>G (p.Asn1220Ser) n.8231A>G | |
3 | g.9475610A>T | CA351691580 | SETD5 | n.2803A>T c.3944A>T (p.Asn1315Ile) n.4837A>T n.2228A>T n.6645A>T n.6090A>T c.3848A>T (p.Asn1283Ile) c.*3994A>T (n.*3994A>T) c.*3917A>T (n.*3917A>T) c.*4222A>T (n.*4222A>T) c.*3953A>T (n.*3953A>T) c.3554A>T (p.Asn1185Ile) c.2722+454A>T c.3905A>T (p.Asn1302Ile) c.2884A>T n.979A>T n.3189A>T n.235A>T n.4012A>T c.4022A>T (p.Asn1341Ile) c.4001A>T (p.Asn1334Ile) c.3983A>T (p.Asn1328Ile) c.3965A>T (p.Asn1322Ile) c.3926A>T (p.Asn1309Ile) c.3887A>T (p.Asn1296Ile) c.3611A>T (p.Asn1204Ile) c.3572A>T (p.Asn1191Ile) c.3962A>T (p.Asn1321Ile) c.3869A>T (p.Asn1290Ile) c.3344A>T (p.Asn1115Ile) c.3659A>T (p.Asn1220Ile) n.8231A>T | |
3 | g.9475611C>A | CA351691582 | SETD5 | n.2804C>A c.3945C>A (p.Asn1315Lys) n.4838C>A n.2229C>A n.6646C>A n.6091C>A c.3849C>A (p.Asn1283Lys) c.*3995C>A (n.*3995C>A) c.*3918C>A (n.*3918C>A) c.*4223C>A (n.*4223C>A) c.*3954C>A (n.*3954C>A) c.3555C>A (p.Asn1185Lys) c.2722+455C>A c.3906C>A (p.Asn1302Lys) c.2885C>A n.980C>A n.3190C>A n.236C>A n.4013C>A c.4023C>A (p.Asn1341Lys) c.4002C>A (p.Asn1334Lys) c.3984C>A (p.Asn1328Lys) c.3966C>A (p.Asn1322Lys) c.3927C>A (p.Asn1309Lys) c.3888C>A (p.Asn1296Lys) c.3612C>A (p.Asn1204Lys) c.3573C>A (p.Asn1191Lys) c.3963C>A (p.Asn1321Lys) c.3870C>A (p.Asn1290Lys) c.3345C>A (p.Asn1115Lys) c.3660C>A (p.Asn1220Lys) n.8232C>A | |
3 | g.9475611C>G | CA351691584 | SETD5 | n.2804C>G c.3945C>G (p.Asn1315Lys) n.4838C>G n.2229C>G n.6646C>G n.6091C>G c.3849C>G (p.Asn1283Lys) c.*3995C>G (n.*3995C>G) c.*3918C>G (n.*3918C>G) c.*4223C>G (n.*4223C>G) c.*3954C>G (n.*3954C>G) c.3555C>G (p.Asn1185Lys) c.2722+455C>G c.3906C>G (p.Asn1302Lys) c.2885C>G n.980C>G n.3190C>G n.236C>G n.4013C>G c.4023C>G (p.Asn1341Lys) c.4002C>G (p.Asn1334Lys) c.3984C>G (p.Asn1328Lys) c.3966C>G (p.Asn1322Lys) c.3927C>G (p.Asn1309Lys) c.3888C>G (p.Asn1296Lys) c.3612C>G (p.Asn1204Lys) c.3573C>G (p.Asn1191Lys) c.3963C>G (p.Asn1321Lys) c.3870C>G (p.Asn1290Lys) c.3345C>G (p.Asn1115Lys) c.3660C>G (p.Asn1220Lys) n.8232C>G | |
3 | g.9475611C>T | CA432528641 | SETD5 | n.2804C>T c.3945C>T (p.Asn1315=) n.4838C>T n.2229C>T n.6646C>T n.6091C>T c.3849C>T (p.Asn1283=) c.*3995C>T (n.*3995C>T) c.*3918C>T (n.*3918C>T) c.*4223C>T (n.*4223C>T) c.*3954C>T (n.*3954C>T) c.3555C>T (p.Asn1185=) c.2722+455C>T c.3906C>T (p.Asn1302=) c.2885C>T n.980C>T n.3190C>T n.236C>T n.4013C>T c.4023C>T (p.Asn1341=) c.4002C>T (p.Asn1334=) c.3984C>T (p.Asn1328=) c.3966C>T (p.Asn1322=) c.3927C>T (p.Asn1309=) c.3888C>T (p.Asn1296=) c.3612C>T (p.Asn1204=) c.3573C>T (p.Asn1191=) c.3963C>T (p.Asn1321=) c.3870C>T (p.Asn1290=) c.3345C>T (p.Asn1115=) c.3660C>T (p.Asn1220=) n.8232C>T | |
3 | g.9475617dup | CA645526497 | SETD5 | n.2810dup c.3951dup (p.Ser1318LeufsTer?) n.4844dup n.2235dup n.6652dup n.6097dup c.3855dup (p.Ser1286LeufsTer?) c.*4001dup (n.*4001dup) c.*3924dup (n.*3924dup) c.*4229dup (n.*4229dup) c.*3960dup (n.*3960dup) c.3561dup (p.Ser1188LeufsTer?) c.2722+461dup c.3912dup (p.Ser1305LeufsTer?) c.2891dup n.986dup n.3196dup n.242dup n.4019dup c.4029dup (p.Ser1344LeufsTer?) c.4008dup (p.Ser1337LeufsTer?) c.3990dup (p.Ser1331LeufsTer?) c.3972dup (p.Ser1325LeufsTer?) c.3933dup (p.Ser1312LeufsTer?) c.3894dup (p.Ser1299LeufsTer?) c.3618dup (p.Ser1207LeufsTer?) c.3579dup (p.Ser1194LeufsTer?) c.3969dup (p.Ser1324LeufsTer?) c.3876dup (p.Ser1293LeufsTer?) c.3351dup (p.Ser1118LeufsTer?) c.3666dup (p.Ser1223LeufsTer?) n.8238dup | ClinVar dbSNP COSMIC COSMIC |
3 | g.9475617del | CA645526496 | SETD5 | n.2810del c.3951del (p.Ser1318LeufsTer?) n.4844del n.2235del n.6652del n.6097del c.3855del (p.Ser1286LeufsTer?) c.*4001del (n.*4001del) c.*3924del (n.*3924del) c.*4229del (n.*4229del) c.*3960del (n.*3960del) c.3561del (p.Ser1188LeufsTer?) c.2722+461del c.3912del (p.Ser1305LeufsTer?) c.2891del n.986del n.3196del n.242del n.4019del c.4029del (p.Ser1344LeufsTer?) c.4008del (p.Ser1337LeufsTer?) c.3990del (p.Ser1331LeufsTer?) c.3972del (p.Ser1325LeufsTer?) c.3933del (p.Ser1312LeufsTer?) c.3894del (p.Ser1299LeufsTer?) c.3618del (p.Ser1207LeufsTer?) c.3579del (p.Ser1194LeufsTer?) c.3969del (p.Ser1324LeufsTer?) c.3876del (p.Ser1293LeufsTer?) c.3351del (p.Ser1118LeufsTer?) c.3666del (p.Ser1223LeufsTer?) n.8238del | ClinVar COSMIC COSMIC |
3 | g.9475612C>A | CA351691591 | SETD5 | n.2805C>A c.3946C>A (p.Pro1316Thr) n.4839C>A n.2230C>A n.6647C>A n.6092C>A c.3850C>A (p.Pro1284Thr) c.*3996C>A (n.*3996C>A) c.*3919C>A (n.*3919C>A) c.*4224C>A (n.*4224C>A) c.*3955C>A (n.*3955C>A) c.3556C>A (p.Pro1186Thr) c.2722+456C>A c.3907C>A (p.Pro1303Thr) c.2886C>A n.981C>A n.3191C>A n.237C>A n.4014C>A c.4024C>A (p.Pro1342Thr) c.4003C>A (p.Pro1335Thr) c.3985C>A (p.Pro1329Thr) c.3967C>A (p.Pro1323Thr) c.3928C>A (p.Pro1310Thr) c.3889C>A (p.Pro1297Thr) c.3613C>A (p.Pro1205Thr) c.3574C>A (p.Pro1192Thr) c.3964C>A (p.Pro1322Thr) c.3871C>A (p.Pro1291Thr) c.3346C>A (p.Pro1116Thr) c.3661C>A (p.Pro1221Thr) n.8233C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475612C= | CA1344742486 | SETD5 | n.2805C= c.3946C= (p.Pro1316=) n.4839C= n.2230C= n.6647C= n.6092C= c.3850C= (p.Pro1284=) c.*3996C= (n.*3996C=) c.*3919C= (n.*3919C=) c.*4224C= (n.*4224C=) c.*3955C= (n.*3955C=) c.3556C= (p.Pro1186=) c.2722+456C= c.3907C= (p.Pro1303=) c.2886C= n.981C= n.3191C= n.237C= n.4014C= c.4024C= (p.Pro1342=) c.4003C= (p.Pro1335=) c.3985C= (p.Pro1329=) c.3967C= (p.Pro1323=) c.3928C= (p.Pro1310=) c.3889C= (p.Pro1297=) c.3613C= (p.Pro1205=) c.3574C= (p.Pro1192=) c.3964C= (p.Pro1322=) c.3871C= (p.Pro1291=) c.3346C= (p.Pro1116=) c.3661C= (p.Pro1221=) n.8233C= | |
3 | g.9475612C>G | CA2239813 | SETD5 | n.2805C>G c.3946C>G (p.Pro1316Ala) n.4839C>G n.2230C>G n.6647C>G n.6092C>G c.3850C>G (p.Pro1284Ala) c.*3996C>G (n.*3996C>G) c.*3919C>G (n.*3919C>G) c.*4224C>G (n.*4224C>G) c.*3955C>G (n.*3955C>G) c.3556C>G (p.Pro1186Ala) c.2722+456C>G c.3907C>G (p.Pro1303Ala) c.2886C>G n.981C>G n.3191C>G n.237C>G n.4014C>G c.4024C>G (p.Pro1342Ala) c.4003C>G (p.Pro1335Ala) c.3985C>G (p.Pro1329Ala) c.3967C>G (p.Pro1323Ala) c.3928C>G (p.Pro1310Ala) c.3889C>G (p.Pro1297Ala) c.3613C>G (p.Pro1205Ala) c.3574C>G (p.Pro1192Ala) c.3964C>G (p.Pro1322Ala) c.3871C>G (p.Pro1291Ala) c.3346C>G (p.Pro1116Ala) c.3661C>G (p.Pro1221Ala) n.8233C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.9475612C>T | CA351691593 | SETD5 | n.2805C>T c.3946C>T (p.Pro1316Ser) n.4839C>T n.2230C>T n.6647C>T n.6092C>T c.3850C>T (p.Pro1284Ser) c.*3996C>T (n.*3996C>T) c.*3919C>T (n.*3919C>T) c.*4224C>T (n.*4224C>T) c.*3955C>T (n.*3955C>T) c.3556C>T (p.Pro1186Ser) c.2722+456C>T c.3907C>T (p.Pro1303Ser) c.2886C>T n.981C>T n.3191C>T n.237C>T n.4014C>T c.4024C>T (p.Pro1342Ser) c.4003C>T (p.Pro1335Ser) c.3985C>T (p.Pro1329Ser) c.3967C>T (p.Pro1323Ser) c.3928C>T (p.Pro1310Ser) c.3889C>T (p.Pro1297Ser) c.3613C>T (p.Pro1205Ser) c.3574C>T (p.Pro1192Ser) c.3964C>T (p.Pro1322Ser) c.3871C>T (p.Pro1291Ser) c.3346C>T (p.Pro1116Ser) c.3661C>T (p.Pro1221Ser) n.8233C>T | gnomAD v4 |
3 | g.9475613C>A | CA351691596 | SETD5 | n.2806C>A c.3947C>A (p.Pro1316His) n.4840C>A n.2231C>A n.6648C>A n.6093C>A c.3851C>A (p.Pro1284His) c.*3997C>A (n.*3997C>A) c.*3920C>A (n.*3920C>A) c.*4225C>A (n.*4225C>A) c.*3956C>A (n.*3956C>A) c.3557C>A (p.Pro1186His) c.2722+457C>A c.3908C>A (p.Pro1303His) c.2887C>A n.982C>A n.3192C>A n.238C>A n.4015C>A c.4025C>A (p.Pro1342His) c.4004C>A (p.Pro1335His) c.3986C>A (p.Pro1329His) c.3968C>A (p.Pro1323His) c.3929C>A (p.Pro1310His) c.3890C>A (p.Pro1297His) c.3614C>A (p.Pro1205His) c.3575C>A (p.Pro1192His) c.3965C>A (p.Pro1322His) c.3872C>A (p.Pro1291His) c.3347C>A (p.Pro1116His) c.3662C>A (p.Pro1221His) n.8234C>A | |
3 | g.9475613C>G | CA351691603 | SETD5 | n.2806C>G c.3947C>G (p.Pro1316Arg) n.4840C>G n.2231C>G n.6648C>G n.6093C>G c.3851C>G (p.Pro1284Arg) c.*3997C>G (n.*3997C>G) c.*3920C>G (n.*3920C>G) c.*4225C>G (n.*4225C>G) c.*3956C>G (n.*3956C>G) c.3557C>G (p.Pro1186Arg) c.2722+457C>G c.3908C>G (p.Pro1303Arg) c.2887C>G n.982C>G n.3192C>G n.238C>G n.4015C>G c.4025C>G (p.Pro1342Arg) c.4004C>G (p.Pro1335Arg) c.3986C>G (p.Pro1329Arg) c.3968C>G (p.Pro1323Arg) c.3929C>G (p.Pro1310Arg) c.3890C>G (p.Pro1297Arg) c.3614C>G (p.Pro1205Arg) c.3575C>G (p.Pro1192Arg) c.3965C>G (p.Pro1322Arg) c.3872C>G (p.Pro1291Arg) c.3347C>G (p.Pro1116Arg) c.3662C>G (p.Pro1221Arg) n.8234C>G | gnomAD v4 |
3 | g.9475613C>T | CA351691606 | SETD5 | n.2806C>T c.3947C>T (p.Pro1316Leu) n.4840C>T n.2231C>T n.6648C>T n.6093C>T c.3851C>T (p.Pro1284Leu) c.*3997C>T (n.*3997C>T) c.*3920C>T (n.*3920C>T) c.*4225C>T (n.*4225C>T) c.*3956C>T (n.*3956C>T) c.3557C>T (p.Pro1186Leu) c.2722+457C>T c.3908C>T (p.Pro1303Leu) c.2887C>T n.982C>T n.3192C>T n.238C>T n.4015C>T c.4025C>T (p.Pro1342Leu) c.4004C>T (p.Pro1335Leu) c.3986C>T (p.Pro1329Leu) c.3968C>T (p.Pro1323Leu) c.3929C>T (p.Pro1310Leu) c.3890C>T (p.Pro1297Leu) c.3614C>T (p.Pro1205Leu) c.3575C>T (p.Pro1192Leu) c.3965C>T (p.Pro1322Leu) c.3872C>T (p.Pro1291Leu) c.3347C>T (p.Pro1116Leu) c.3662C>T (p.Pro1221Leu) n.8234C>T | |
3 | g.9475614C>A | CA432528649 | SETD5 | n.2807C>A c.3948C>A (p.Pro1316=) n.4841C>A n.2232C>A n.6649C>A n.6094C>A c.3852C>A (p.Pro1284=) c.*3998C>A (n.*3998C>A) c.*3921C>A (n.*3921C>A) c.*4226C>A (n.*4226C>A) c.*3957C>A (n.*3957C>A) c.3558C>A (p.Pro1186=) c.2722+458C>A c.3909C>A (p.Pro1303=) c.2888C>A n.983C>A n.3193C>A n.239C>A n.4016C>A c.4026C>A (p.Pro1342=) c.4005C>A (p.Pro1335=) c.3987C>A (p.Pro1329=) c.3969C>A (p.Pro1323=) c.3930C>A (p.Pro1310=) c.3891C>A (p.Pro1297=) c.3615C>A (p.Pro1205=) c.3576C>A (p.Pro1192=) c.3966C>A (p.Pro1322=) c.3873C>A (p.Pro1291=) c.3348C>A (p.Pro1116=) c.3663C>A (p.Pro1221=) n.8235C>A | gnomAD v4 |
3 | g.9475614C>G | CA432528650 | SETD5 | n.2807C>G c.3948C>G (p.Pro1316=) n.4841C>G n.2232C>G n.6649C>G n.6094C>G c.3852C>G (p.Pro1284=) c.*3998C>G (n.*3998C>G) c.*3921C>G (n.*3921C>G) c.*4226C>G (n.*4226C>G) c.*3957C>G (n.*3957C>G) c.3558C>G (p.Pro1186=) c.2722+458C>G c.3909C>G (p.Pro1303=) c.2888C>G n.983C>G n.3193C>G n.239C>G n.4016C>G c.4026C>G (p.Pro1342=) c.4005C>G (p.Pro1335=) c.3987C>G (p.Pro1329=) c.3969C>G (p.Pro1323=) c.3930C>G (p.Pro1310=) c.3891C>G (p.Pro1297=) c.3615C>G (p.Pro1205=) c.3576C>G (p.Pro1192=) c.3966C>G (p.Pro1322=) c.3873C>G (p.Pro1291=) c.3348C>G (p.Pro1116=) c.3663C>G (p.Pro1221=) n.8235C>G | gnomAD v4 |
3 | g.9475614C>T | CA432528651 | SETD5 | n.2807C>T c.3948C>T (p.Pro1316=) n.4841C>T n.2232C>T n.6649C>T n.6094C>T c.3852C>T (p.Pro1284=) c.*3998C>T (n.*3998C>T) c.*3921C>T (n.*3921C>T) c.*4226C>T (n.*4226C>T) c.*3957C>T (n.*3957C>T) c.3558C>T (p.Pro1186=) c.2722+458C>T c.3909C>T (p.Pro1303=) c.2888C>T n.983C>T n.3193C>T n.239C>T n.4016C>T c.4026C>T (p.Pro1342=) c.4005C>T (p.Pro1335=) c.3987C>T (p.Pro1329=) c.3969C>T (p.Pro1323=) c.3930C>T (p.Pro1310=) c.3891C>T (p.Pro1297=) c.3615C>T (p.Pro1205=) c.3576C>T (p.Pro1192=) c.3966C>T (p.Pro1322=) c.3873C>T (p.Pro1291=) c.3348C>T (p.Pro1116=) c.3663C>T (p.Pro1221=) n.8235C>T | |
3 | g.9475615C>A | CA2239814 | SETD5 | n.2808C>A c.3949C>A (p.Pro1317Thr) n.4842C>A n.2233C>A n.6650C>A n.6095C>A c.3853C>A (p.Pro1285Thr) c.*3999C>A (n.*3999C>A) c.*3922C>A (n.*3922C>A) c.*4227C>A (n.*4227C>A) c.*3958C>A (n.*3958C>A) c.3559C>A (p.Pro1187Thr) c.2722+459C>A c.3910C>A (p.Pro1304Thr) c.2889C>A n.984C>A n.3194C>A n.240C>A n.4017C>A c.4027C>A (p.Pro1343Thr) c.4006C>A (p.Pro1336Thr) c.3988C>A (p.Pro1330Thr) c.3970C>A (p.Pro1324Thr) c.3931C>A (p.Pro1311Thr) c.3892C>A (p.Pro1298Thr) c.3616C>A (p.Pro1206Thr) c.3577C>A (p.Pro1193Thr) c.3967C>A (p.Pro1323Thr) c.3874C>A (p.Pro1292Thr) c.3349C>A (p.Pro1117Thr) c.3664C>A (p.Pro1222Thr) n.8236C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.9475615C= | CA1344742490 | SETD5 | n.2808C= c.3949C= (p.Pro1317=) n.4842C= n.2233C= n.6650C= n.6095C= c.3853C= (p.Pro1285=) c.*3999C= (n.*3999C=) c.*3922C= (n.*3922C=) c.*4227C= (n.*4227C=) c.*3958C= (n.*3958C=) c.3559C= (p.Pro1187=) c.2722+459C= c.3910C= (p.Pro1304=) c.2889C= n.984C= n.3194C= n.240C= n.4017C= c.4027C= (p.Pro1343=) c.4006C= (p.Pro1336=) c.3988C= (p.Pro1330=) c.3970C= (p.Pro1324=) c.3931C= (p.Pro1311=) c.3892C= (p.Pro1298=) c.3616C= (p.Pro1206=) c.3577C= (p.Pro1193=) c.3967C= (p.Pro1323=) c.3874C= (p.Pro1292=) c.3349C= (p.Pro1117=) c.3664C= (p.Pro1222=) n.8236C= | |
3 | g.9475615C>G | CA2239815 | SETD5 | n.2808C>G c.3949C>G (p.Pro1317Ala) n.4842C>G n.2233C>G n.6650C>G n.6095C>G c.3853C>G (p.Pro1285Ala) c.*3999C>G (n.*3999C>G) c.*3922C>G (n.*3922C>G) c.*4227C>G (n.*4227C>G) c.*3958C>G (n.*3958C>G) c.3559C>G (p.Pro1187Ala) c.2722+459C>G c.3910C>G (p.Pro1304Ala) c.2889C>G n.984C>G n.3194C>G n.240C>G n.4017C>G c.4027C>G (p.Pro1343Ala) c.4006C>G (p.Pro1336Ala) c.3988C>G (p.Pro1330Ala) c.3970C>G (p.Pro1324Ala) c.3931C>G (p.Pro1311Ala) c.3892C>G (p.Pro1298Ala) c.3616C>G (p.Pro1206Ala) c.3577C>G (p.Pro1193Ala) c.3967C>G (p.Pro1323Ala) c.3874C>G (p.Pro1292Ala) c.3349C>G (p.Pro1117Ala) c.3664C>G (p.Pro1222Ala) n.8236C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475615C>T | CA2239816 | SETD5 | n.2808C>T c.3949C>T (p.Pro1317Ser) n.4842C>T n.2233C>T n.6650C>T n.6095C>T c.3853C>T (p.Pro1285Ser) c.*3999C>T (n.*3999C>T) c.*3922C>T (n.*3922C>T) c.*4227C>T (n.*4227C>T) c.*3958C>T (n.*3958C>T) c.3559C>T (p.Pro1187Ser) c.2722+459C>T c.3910C>T (p.Pro1304Ser) c.2889C>T n.984C>T n.3194C>T n.240C>T n.4017C>T c.4027C>T (p.Pro1343Ser) c.4006C>T (p.Pro1336Ser) c.3988C>T (p.Pro1330Ser) c.3970C>T (p.Pro1324Ser) c.3931C>T (p.Pro1311Ser) c.3892C>T (p.Pro1298Ser) c.3616C>T (p.Pro1206Ser) c.3577C>T (p.Pro1193Ser) c.3967C>T (p.Pro1323Ser) c.3874C>T (p.Pro1292Ser) c.3349C>T (p.Pro1117Ser) c.3664C>T (p.Pro1222Ser) n.8236C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475616C>A | CA351691621 | SETD5 | n.2809C>A c.3950C>A (p.Pro1317His) n.4843C>A n.2234C>A n.6651C>A n.6096C>A c.3854C>A (p.Pro1285His) c.*4000C>A (n.*4000C>A) c.*3923C>A (n.*3923C>A) c.*4228C>A (n.*4228C>A) c.*3959C>A (n.*3959C>A) c.3560C>A (p.Pro1187His) c.2722+460C>A c.3911C>A (p.Pro1304His) c.2890C>A n.985C>A n.3195C>A n.241C>A n.4018C>A c.4028C>A (p.Pro1343His) c.4007C>A (p.Pro1336His) c.3989C>A (p.Pro1330His) c.3971C>A (p.Pro1324His) c.3932C>A (p.Pro1311His) c.3893C>A (p.Pro1298His) c.3617C>A (p.Pro1206His) c.3578C>A (p.Pro1193His) c.3968C>A (p.Pro1323His) c.3875C>A (p.Pro1292His) c.3350C>A (p.Pro1117His) c.3665C>A (p.Pro1222His) n.8237C>A | ClinVar dbSNP gnomAD v4 |
3 | g.9475616C= | CA1344742494 | SETD5 | n.2809C= c.3950C= (p.Pro1317=) n.4843C= n.2234C= n.6651C= n.6096C= c.3854C= (p.Pro1285=) c.*4000C= (n.*4000C=) c.*3923C= (n.*3923C=) c.*4228C= (n.*4228C=) c.*3959C= (n.*3959C=) c.3560C= (p.Pro1187=) c.2722+460C= c.3911C= (p.Pro1304=) c.2890C= n.985C= n.3195C= n.241C= n.4018C= c.4028C= (p.Pro1343=) c.4007C= (p.Pro1336=) c.3989C= (p.Pro1330=) c.3971C= (p.Pro1324=) c.3932C= (p.Pro1311=) c.3893C= (p.Pro1298=) c.3617C= (p.Pro1206=) c.3578C= (p.Pro1193=) c.3968C= (p.Pro1323=) c.3875C= (p.Pro1292=) c.3350C= (p.Pro1117=) c.3665C= (p.Pro1222=) n.8237C= | |
3 | g.9475616C>G | CA2239817 | SETD5 | n.2809C>G c.3950C>G (p.Pro1317Arg) n.4843C>G n.2234C>G n.6651C>G n.6096C>G c.3854C>G (p.Pro1285Arg) c.*4000C>G (n.*4000C>G) c.*3923C>G (n.*3923C>G) c.*4228C>G (n.*4228C>G) c.*3959C>G (n.*3959C>G) c.3560C>G (p.Pro1187Arg) c.2722+460C>G c.3911C>G (p.Pro1304Arg) c.2890C>G n.985C>G n.3195C>G n.241C>G n.4018C>G c.4028C>G (p.Pro1343Arg) c.4007C>G (p.Pro1336Arg) c.3989C>G (p.Pro1330Arg) c.3971C>G (p.Pro1324Arg) c.3932C>G (p.Pro1311Arg) c.3893C>G (p.Pro1298Arg) c.3617C>G (p.Pro1206Arg) c.3578C>G (p.Pro1193Arg) c.3968C>G (p.Pro1323Arg) c.3875C>G (p.Pro1292Arg) c.3350C>G (p.Pro1117Arg) c.3665C>G (p.Pro1222Arg) n.8237C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475616C>T | CA351691641 | SETD5 | n.2809C>T c.3950C>T (p.Pro1317Leu) n.4843C>T n.2234C>T n.6651C>T n.6096C>T c.3854C>T (p.Pro1285Leu) c.*4000C>T (n.*4000C>T) c.*3923C>T (n.*3923C>T) c.*4228C>T (n.*4228C>T) c.*3959C>T (n.*3959C>T) c.3560C>T (p.Pro1187Leu) c.2722+460C>T c.3911C>T (p.Pro1304Leu) c.2890C>T n.985C>T n.3195C>T n.241C>T n.4018C>T c.4028C>T (p.Pro1343Leu) c.4007C>T (p.Pro1336Leu) c.3989C>T (p.Pro1330Leu) c.3971C>T (p.Pro1324Leu) c.3932C>T (p.Pro1311Leu) c.3893C>T (p.Pro1298Leu) c.3617C>T (p.Pro1206Leu) c.3578C>T (p.Pro1193Leu) c.3968C>T (p.Pro1323Leu) c.3875C>T (p.Pro1292Leu) c.3350C>T (p.Pro1117Leu) c.3665C>T (p.Pro1222Leu) n.8237C>T | |
3 | g.9475616_9475618delinsCCT | CA1344742495 | SETD5 | n.2809_2811delinsCCT c.3950_3952delinsCCT (p.Pro1317=) n.4843_4845delinsCCT n.2234_2236delinsCCT n.6651_6653delinsCCT n.6096_6098delinsCCT c.3854_3856delinsCCT (p.Pro1285=) c.*4000_*4002delinsCCT (n.*4000_*4002delinsCCT) c.*3923_*3925delinsCCT (n.*3923_*3925delinsCCT) c.*4228_*4230delinsCCT (n.*4228_*4230delinsCCT) c.*3959_*3961delinsCCT (n.*3959_*3961delinsCCT) c.3560_3562delinsCCT (p.Pro1187=) c.2722+460_2722+462delinsCCT c.3911_3913delinsCCT (p.Pro1304=) c.2890_2892delinsCCT n.985_987delinsCCT n.3195_3197delinsCCT n.241_243delinsCCT n.4018_4020delinsCCT c.4028_4030delinsCCT (p.Pro1343=) c.4007_4009delinsCCT (p.Pro1336=) c.3989_3991delinsCCT (p.Pro1330=) c.3971_3973delinsCCT (p.Pro1324=) c.3932_3934delinsCCT (p.Pro1311=) c.3893_3895delinsCCT (p.Pro1298=) c.3617_3619delinsCCT (p.Pro1206=) c.3578_3580delinsCCT (p.Pro1193=) c.3968_3970delinsCCT (p.Pro1323=) c.3875_3877delinsCCT (p.Pro1292=) c.3350_3352delinsCCT (p.Pro1117=) c.3665_3667delinsCCT (p.Pro1222=) n.8237_8239delinsCCT | |
3 | g.9475617C>A | CA69951935 | SETD5 | n.2810C>A c.3951C>A (p.Pro1317=) n.4844C>A n.2235C>A n.6652C>A n.6097C>A c.3855C>A (p.Pro1285=) c.*4001C>A (n.*4001C>A) c.*3924C>A (n.*3924C>A) c.*4229C>A (n.*4229C>A) c.*3960C>A (n.*3960C>A) c.3561C>A (p.Pro1187=) c.2722+461C>A c.3912C>A (p.Pro1304=) c.2891C>A n.986C>A n.3196C>A n.242C>A n.4019C>A c.4029C>A (p.Pro1343=) c.4008C>A (p.Pro1336=) c.3990C>A (p.Pro1330=) c.3972C>A (p.Pro1324=) c.3933C>A (p.Pro1311=) c.3894C>A (p.Pro1298=) c.3618C>A (p.Pro1206=) c.3579C>A (p.Pro1193=) c.3969C>A (p.Pro1323=) c.3876C>A (p.Pro1292=) c.3351C>A (p.Pro1117=) c.3666C>A (p.Pro1222=) n.8238C>A | dbSNP gnomAD v4 |
3 | g.9475617C= | CA1344742503 | SETD5 | n.2810C= c.3951C= (p.Pro1317=) n.4844C= n.2235C= n.6652C= n.6097C= c.3855C= (p.Pro1285=) c.*4001C= (n.*4001C=) c.*3924C= (n.*3924C=) c.*4229C= (n.*4229C=) c.*3960C= (n.*3960C=) c.3561C= (p.Pro1187=) c.2722+461C= c.3912C= (p.Pro1304=) c.2891C= n.986C= n.3196C= n.242C= n.4019C= c.4029C= (p.Pro1343=) c.4008C= (p.Pro1336=) c.3990C= (p.Pro1330=) c.3972C= (p.Pro1324=) c.3933C= (p.Pro1311=) c.3894C= (p.Pro1298=) c.3618C= (p.Pro1206=) c.3579C= (p.Pro1193=) c.3969C= (p.Pro1323=) c.3876C= (p.Pro1292=) c.3351C= (p.Pro1117=) c.3666C= (p.Pro1222=) n.8238C= | |
3 | g.9475617C>G | CA2239819 | SETD5 | n.2810C>G c.3951C>G (p.Pro1317=) n.4844C>G n.2235C>G n.6652C>G n.6097C>G c.3855C>G (p.Pro1285=) c.*4001C>G (n.*4001C>G) c.*3924C>G (n.*3924C>G) c.*4229C>G (n.*4229C>G) c.*3960C>G (n.*3960C>G) c.3561C>G (p.Pro1187=) c.2722+461C>G c.3912C>G (p.Pro1304=) c.2891C>G n.986C>G n.3196C>G n.242C>G n.4019C>G c.4029C>G (p.Pro1343=) c.4008C>G (p.Pro1336=) c.3990C>G (p.Pro1330=) c.3972C>G (p.Pro1324=) c.3933C>G (p.Pro1311=) c.3894C>G (p.Pro1298=) c.3618C>G (p.Pro1206=) c.3579C>G (p.Pro1193=) c.3969C>G (p.Pro1323=) c.3876C>G (p.Pro1292=) c.3351C>G (p.Pro1117=) c.3666C>G (p.Pro1222=) n.8238C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475617C>T | CA2239818 | SETD5 | n.2810C>T c.3951C>T (p.Pro1317=) n.4844C>T n.2235C>T n.6652C>T n.6097C>T c.3855C>T (p.Pro1285=) c.*4001C>T (n.*4001C>T) c.*3924C>T (n.*3924C>T) c.*4229C>T (n.*4229C>T) c.*3960C>T (n.*3960C>T) c.3561C>T (p.Pro1187=) c.2722+461C>T c.3912C>T (p.Pro1304=) c.2891C>T n.986C>T n.3196C>T n.242C>T n.4019C>T c.4029C>T (p.Pro1343=) c.4008C>T (p.Pro1336=) c.3990C>T (p.Pro1330=) c.3972C>T (p.Pro1324=) c.3933C>T (p.Pro1311=) c.3894C>T (p.Pro1298=) c.3618C>T (p.Pro1206=) c.3579C>T (p.Pro1193=) c.3969C>T (p.Pro1323=) c.3876C>T (p.Pro1292=) c.3351C>T (p.Pro1117=) c.3666C>T (p.Pro1222=) n.8238C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475617_9475618delinsCT | CA1344742507 | SETD5 | n.2810_2811delinsCT c.3951_3952delinsCT (p.Pro1317=) n.4844_4845delinsCT n.2235_2236delinsCT n.6652_6653delinsCT n.6097_6098delinsCT c.3855_3856delinsCT (p.Pro1285=) c.*4001_*4002delinsCT (n.*4001_*4002delinsCT) c.*3924_*3925delinsCT (n.*3924_*3925delinsCT) c.*4229_*4230delinsCT (n.*4229_*4230delinsCT) c.*3960_*3961delinsCT (n.*3960_*3961delinsCT) c.3561_3562delinsCT (p.Pro1187=) c.2722+461_2722+462delinsCT c.3912_3913delinsCT (p.Pro1304=) c.2891_2892delinsCT n.986_987delinsCT n.3196_3197delinsCT n.242_243delinsCT n.4019_4020delinsCT c.4029_4030delinsCT (p.Pro1343=) c.4008_4009delinsCT (p.Pro1336=) c.3990_3991delinsCT (p.Pro1330=) c.3972_3973delinsCT (p.Pro1324=) c.3933_3934delinsCT (p.Pro1311=) c.3894_3895delinsCT (p.Pro1298=) c.3618_3619delinsCT (p.Pro1206=) c.3579_3580delinsCT (p.Pro1193=) c.3969_3970delinsCT (p.Pro1323=) c.3876_3877delinsCT (p.Pro1292=) c.3351_3352delinsCT (p.Pro1117=) c.3666_3667delinsCT (p.Pro1222=) n.8238_8239delinsCT | |
3 | g.9475620_9475621del | CA1139657878 | SETD5 | n.2813_2814del c.3954_3955del (p.His1319ArgfsTer?) n.4847_4848del n.2238_2239del n.6655_6656del n.6100_6101del c.3858_3859del (p.His1287ArgfsTer?) c.*4004_*4005del (n.*4004_*4005del) c.*3927_*3928del (n.*3927_*3928del) c.*4232_*4233del (n.*4232_*4233del) c.*3963_*3964del (n.*3963_*3964del) c.3564_3565del (p.His1189ArgfsTer?) c.2722+464_2722+465del c.3915_3916del (p.His1306ArgfsTer?) c.2894_2895del n.989_990del n.3199_3200del n.245_246del n.4022_4023del c.4032_4033del (p.His1345ArgfsTer?) c.4011_4012del (p.His1338ArgfsTer?) c.3993_3994del (p.His1332ArgfsTer?) c.3975_3976del (p.His1326ArgfsTer?) c.3936_3937del (p.His1313ArgfsTer?) c.3897_3898del (p.His1300ArgfsTer?) c.3621_3622del (p.His1208ArgfsTer?) c.3582_3583del (p.His1195ArgfsTer?) c.3972_3973del (p.His1325ArgfsTer?) c.3879_3880del (p.His1294ArgfsTer?) c.3354_3355del (p.His1119ArgfsTer?) c.3669_3670del (p.His1224ArgfsTer?) n.8241_8242del | ClinVar dbSNP |
3 | g.9475618del | CA251338 | SETD5 | n.2811del c.3952del (p.Ser1318LeufsTer?) n.4845del n.2236del n.6653del n.6098del c.3856del (p.Ser1286LeufsTer?) c.*4002del (n.*4002del) c.*3925del (n.*3925del) c.*4230del (n.*4230del) c.*3961del (n.*3961del) c.3562del (p.Ser1188LeufsTer?) c.2722+462del c.3913del (p.Ser1305LeufsTer?) c.2892del n.987del n.3197del n.243del n.4020del c.4030del (p.Ser1344LeufsTer?) c.4009del (p.Ser1337LeufsTer?) c.3991del (p.Ser1331LeufsTer?) c.3973del (p.Ser1325LeufsTer?) c.3934del (p.Ser1312LeufsTer?) c.3895del (p.Ser1299LeufsTer?) c.3619del (p.Ser1207LeufsTer?) c.3580del (p.Ser1194LeufsTer?) c.3970del (p.Ser1324LeufsTer?) c.3877del (p.Ser1293LeufsTer?) c.3352del (p.Ser1118LeufsTer?) c.3667del (p.Ser1223LeufsTer?) n.8239del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.9475618T>A | CA351691658 | SETD5 | n.2811T>A c.3952T>A (p.Ser1318Thr) n.4845T>A n.2236T>A n.6653T>A n.6098T>A c.3856T>A (p.Ser1286Thr) c.*4002T>A (n.*4002T>A) c.*3925T>A (n.*3925T>A) c.*4230T>A (n.*4230T>A) c.*3961T>A (n.*3961T>A) c.3562T>A (p.Ser1188Thr) c.2722+462T>A c.3913T>A (p.Ser1305Thr) c.2892T>A n.987T>A n.3197T>A n.243T>A n.4020T>A c.4030T>A (p.Ser1344Thr) c.4009T>A (p.Ser1337Thr) c.3991T>A (p.Ser1331Thr) c.3973T>A (p.Ser1325Thr) c.3934T>A (p.Ser1312Thr) c.3895T>A (p.Ser1299Thr) c.3619T>A (p.Ser1207Thr) c.3580T>A (p.Ser1194Thr) c.3970T>A (p.Ser1324Thr) c.3877T>A (p.Ser1293Thr) c.3352T>A (p.Ser1118Thr) c.3667T>A (p.Ser1223Thr) n.8239T>A | |
3 | g.9475618T>C | CA351691676 | SETD5 | n.2811T>C c.3952T>C (p.Ser1318Pro) n.4845T>C n.2236T>C n.6653T>C n.6098T>C c.3856T>C (p.Ser1286Pro) c.*4002T>C (n.*4002T>C) c.*3925T>C (n.*3925T>C) c.*4230T>C (n.*4230T>C) c.*3961T>C (n.*3961T>C) c.3562T>C (p.Ser1188Pro) c.2722+462T>C c.3913T>C (p.Ser1305Pro) c.2892T>C n.987T>C n.3197T>C n.243T>C n.4020T>C c.4030T>C (p.Ser1344Pro) c.4009T>C (p.Ser1337Pro) c.3991T>C (p.Ser1331Pro) c.3973T>C (p.Ser1325Pro) c.3934T>C (p.Ser1312Pro) c.3895T>C (p.Ser1299Pro) c.3619T>C (p.Ser1207Pro) c.3580T>C (p.Ser1194Pro) c.3970T>C (p.Ser1324Pro) c.3877T>C (p.Ser1293Pro) c.3352T>C (p.Ser1118Pro) c.3667T>C (p.Ser1223Pro) n.8239T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475618T>G | CA351691693 | SETD5 | n.2811T>G c.3952T>G (p.Ser1318Ala) n.4845T>G n.2236T>G n.6653T>G n.6098T>G c.3856T>G (p.Ser1286Ala) c.*4002T>G (n.*4002T>G) c.*3925T>G (n.*3925T>G) c.*4230T>G (n.*4230T>G) c.*3961T>G (n.*3961T>G) c.3562T>G (p.Ser1188Ala) c.2722+462T>G c.3913T>G (p.Ser1305Ala) c.2892T>G n.987T>G n.3197T>G n.243T>G n.4020T>G c.4030T>G (p.Ser1344Ala) c.4009T>G (p.Ser1337Ala) c.3991T>G (p.Ser1331Ala) c.3973T>G (p.Ser1325Ala) c.3934T>G (p.Ser1312Ala) c.3895T>G (p.Ser1299Ala) c.3619T>G (p.Ser1207Ala) c.3580T>G (p.Ser1194Ala) c.3970T>G (p.Ser1324Ala) c.3877T>G (p.Ser1293Ala) c.3352T>G (p.Ser1118Ala) c.3667T>G (p.Ser1223Ala) n.8239T>G | |
3 | g.9475618T= | CA1344742513 | SETD5 | n.2811T= c.3952T= (p.Ser1318=) n.4845T= n.2236T= n.6653T= n.6098T= c.3856T= (p.Ser1286=) c.*4002T= (n.*4002T=) c.*3925T= (n.*3925T=) c.*4230T= (n.*4230T=) c.*3961T= (n.*3961T=) c.3562T= (p.Ser1188=) c.2722+462T= c.3913T= (p.Ser1305=) c.2892T= n.987T= n.3197T= n.243T= n.4020T= c.4030T= (p.Ser1344=) c.4009T= (p.Ser1337=) c.3991T= (p.Ser1331=) c.3973T= (p.Ser1325=) c.3934T= (p.Ser1312=) c.3895T= (p.Ser1299=) c.3619T= (p.Ser1207=) c.3580T= (p.Ser1194=) c.3970T= (p.Ser1324=) c.3877T= (p.Ser1293=) c.3352T= (p.Ser1118=) c.3667T= (p.Ser1223=) n.8239T= | |
3 | g.9475619C>A | CA351691704 | SETD5 | n.2812C>A c.3953C>A (p.Ser1318Tyr) n.4846C>A n.2237C>A n.6654C>A n.6099C>A c.3857C>A (p.Ser1286Tyr) c.*4003C>A (n.*4003C>A) c.*3926C>A (n.*3926C>A) c.*4231C>A (n.*4231C>A) c.*3962C>A (n.*3962C>A) c.3563C>A (p.Ser1188Tyr) c.2722+463C>A c.3914C>A (p.Ser1305Tyr) c.2893C>A n.988C>A n.3198C>A n.244C>A n.4021C>A c.4031C>A (p.Ser1344Tyr) c.4010C>A (p.Ser1337Tyr) c.3992C>A (p.Ser1331Tyr) c.3974C>A (p.Ser1325Tyr) c.3935C>A (p.Ser1312Tyr) c.3896C>A (p.Ser1299Tyr) c.3620C>A (p.Ser1207Tyr) c.3581C>A (p.Ser1194Tyr) c.3971C>A (p.Ser1324Tyr) c.3878C>A (p.Ser1293Tyr) c.3353C>A (p.Ser1118Tyr) c.3668C>A (p.Ser1223Tyr) n.8240C>A | |
3 | g.9475619C>G | CA351691715 | SETD5 | n.2812C>G c.3953C>G (p.Ser1318Cys) n.4846C>G n.2237C>G n.6654C>G n.6099C>G c.3857C>G (p.Ser1286Cys) c.*4003C>G (n.*4003C>G) c.*3926C>G (n.*3926C>G) c.*4231C>G (n.*4231C>G) c.*3962C>G (n.*3962C>G) c.3563C>G (p.Ser1188Cys) c.2722+463C>G c.3914C>G (p.Ser1305Cys) c.2893C>G n.988C>G n.3198C>G n.244C>G n.4021C>G c.4031C>G (p.Ser1344Cys) c.4010C>G (p.Ser1337Cys) c.3992C>G (p.Ser1331Cys) c.3974C>G (p.Ser1325Cys) c.3935C>G (p.Ser1312Cys) c.3896C>G (p.Ser1299Cys) c.3620C>G (p.Ser1207Cys) c.3581C>G (p.Ser1194Cys) c.3971C>G (p.Ser1324Cys) c.3878C>G (p.Ser1293Cys) c.3353C>G (p.Ser1118Cys) c.3668C>G (p.Ser1223Cys) n.8240C>G | |
3 | g.9475619C>T | CA351691730 | SETD5 | n.2812C>T c.3953C>T (p.Ser1318Phe) n.4846C>T n.2237C>T n.6654C>T n.6099C>T c.3857C>T (p.Ser1286Phe) c.*4003C>T (n.*4003C>T) c.*3926C>T (n.*3926C>T) c.*4231C>T (n.*4231C>T) c.*3962C>T (n.*3962C>T) c.3563C>T (p.Ser1188Phe) c.2722+463C>T c.3914C>T (p.Ser1305Phe) c.2893C>T n.988C>T n.3198C>T n.244C>T n.4021C>T c.4031C>T (p.Ser1344Phe) c.4010C>T (p.Ser1337Phe) c.3992C>T (p.Ser1331Phe) c.3974C>T (p.Ser1325Phe) c.3935C>T (p.Ser1312Phe) c.3896C>T (p.Ser1299Phe) c.3620C>T (p.Ser1207Phe) c.3581C>T (p.Ser1194Phe) c.3971C>T (p.Ser1324Phe) c.3878C>T (p.Ser1293Phe) c.3353C>T (p.Ser1118Phe) c.3668C>T (p.Ser1223Phe) n.8240C>T | |
3 | g.9475620T>A | CA432528666 | SETD5 | n.2813T>A c.3954T>A (p.Ser1318=) n.4847T>A n.2238T>A n.6655T>A n.6100T>A c.3858T>A (p.Ser1286=) c.*4004T>A (n.*4004T>A) c.*3927T>A (n.*3927T>A) c.*4232T>A (n.*4232T>A) c.*3963T>A (n.*3963T>A) c.3564T>A (p.Ser1188=) c.2722+464T>A c.3915T>A (p.Ser1305=) c.2894T>A n.989T>A n.3199T>A n.245T>A n.4022T>A c.4032T>A (p.Ser1344=) c.4011T>A (p.Ser1337=) c.3993T>A (p.Ser1331=) c.3975T>A (p.Ser1325=) c.3936T>A (p.Ser1312=) c.3897T>A (p.Ser1299=) c.3621T>A (p.Ser1207=) c.3582T>A (p.Ser1194=) c.3972T>A (p.Ser1324=) c.3879T>A (p.Ser1293=) c.3354T>A (p.Ser1118=) c.3669T>A (p.Ser1223=) n.8241T>A | |
3 | g.9475620T>C | CA432528665 | SETD5 | n.2813T>C c.3954T>C (p.Ser1318=) n.4847T>C n.2238T>C n.6655T>C n.6100T>C c.3858T>C (p.Ser1286=) c.*4004T>C (n.*4004T>C) c.*3927T>C (n.*3927T>C) c.*4232T>C (n.*4232T>C) c.*3963T>C (n.*3963T>C) c.3564T>C (p.Ser1188=) c.2722+464T>C c.3915T>C (p.Ser1305=) c.2894T>C n.989T>C n.3199T>C n.245T>C n.4022T>C c.4032T>C (p.Ser1344=) c.4011T>C (p.Ser1337=) c.3993T>C (p.Ser1331=) c.3975T>C (p.Ser1325=) c.3936T>C (p.Ser1312=) c.3897T>C (p.Ser1299=) c.3621T>C (p.Ser1207=) c.3582T>C (p.Ser1194=) c.3972T>C (p.Ser1324=) c.3879T>C (p.Ser1293=) c.3354T>C (p.Ser1118=) c.3669T>C (p.Ser1223=) n.8241T>C | |
3 | g.9475620T>G | CA432528664 | SETD5 | n.2813T>G c.3954T>G (p.Ser1318=) n.4847T>G n.2238T>G n.6655T>G n.6100T>G c.3858T>G (p.Ser1286=) c.*4004T>G (n.*4004T>G) c.*3927T>G (n.*3927T>G) c.*4232T>G (n.*4232T>G) c.*3963T>G (n.*3963T>G) c.3564T>G (p.Ser1188=) c.2722+464T>G c.3915T>G (p.Ser1305=) c.2894T>G n.989T>G n.3199T>G n.245T>G n.4022T>G c.4032T>G (p.Ser1344=) c.4011T>G (p.Ser1337=) c.3993T>G (p.Ser1331=) c.3975T>G (p.Ser1325=) c.3936T>G (p.Ser1312=) c.3897T>G (p.Ser1299=) c.3621T>G (p.Ser1207=) c.3582T>G (p.Ser1194=) c.3972T>G (p.Ser1324=) c.3879T>G (p.Ser1293=) c.3354T>G (p.Ser1118=) c.3669T>G (p.Ser1223=) n.8241T>G | |
3 | g.9475621C>A | CA351691743 | SETD5 | n.2814C>A c.3955C>A (p.His1319Asn) n.4848C>A n.2239C>A n.6656C>A n.6101C>A c.3859C>A (p.His1287Asn) c.*4005C>A (n.*4005C>A) c.*3928C>A (n.*3928C>A) c.*4233C>A (n.*4233C>A) c.*3964C>A (n.*3964C>A) c.3565C>A (p.His1189Asn) c.2722+465C>A c.3916C>A (p.His1306Asn) c.2895C>A n.990C>A n.3200C>A n.246C>A n.4023C>A c.4033C>A (p.His1345Asn) c.4012C>A (p.His1338Asn) c.3994C>A (p.His1332Asn) c.3976C>A (p.His1326Asn) c.3937C>A (p.His1313Asn) c.3898C>A (p.His1300Asn) c.3622C>A (p.His1208Asn) c.3583C>A (p.His1195Asn) c.3973C>A (p.His1325Asn) c.3880C>A (p.His1294Asn) c.3355C>A (p.His1119Asn) c.3670C>A (p.His1224Asn) n.8242C>A | |
3 | g.9475621C= | CA1344742527 | SETD5 | n.2814C= c.3955C= (p.His1319=) n.4848C= n.2239C= n.6656C= n.6101C= c.3859C= (p.His1287=) c.*4005C= (n.*4005C=) c.*3928C= (n.*3928C=) c.*4233C= (n.*4233C=) c.*3964C= (n.*3964C=) c.3565C= (p.His1189=) c.2722+465C= c.3916C= (p.His1306=) c.2895C= n.990C= n.3200C= n.246C= n.4023C= c.4033C= (p.His1345=) c.4012C= (p.His1338=) c.3994C= (p.His1332=) c.3976C= (p.His1326=) c.3937C= (p.His1313=) c.3898C= (p.His1300=) c.3622C= (p.His1208=) c.3583C= (p.His1195=) c.3973C= (p.His1325=) c.3880C= (p.His1294=) c.3355C= (p.His1119=) c.3670C= (p.His1224=) n.8242C= | |
3 | g.9475621C>G | CA351691748 | SETD5 | n.2814C>G c.3955C>G (p.His1319Asp) n.4848C>G n.2239C>G n.6656C>G n.6101C>G c.3859C>G (p.His1287Asp) c.*4005C>G (n.*4005C>G) c.*3928C>G (n.*3928C>G) c.*4233C>G (n.*4233C>G) c.*3964C>G (n.*3964C>G) c.3565C>G (p.His1189Asp) c.2722+465C>G c.3916C>G (p.His1306Asp) c.2895C>G n.990C>G n.3200C>G n.246C>G n.4023C>G c.4033C>G (p.His1345Asp) c.4012C>G (p.His1338Asp) c.3994C>G (p.His1332Asp) c.3976C>G (p.His1326Asp) c.3937C>G (p.His1313Asp) c.3898C>G (p.His1300Asp) c.3622C>G (p.His1208Asp) c.3583C>G (p.His1195Asp) c.3973C>G (p.His1325Asp) c.3880C>G (p.His1294Asp) c.3355C>G (p.His1119Asp) c.3670C>G (p.His1224Asp) n.8242C>G | |
3 | g.9475621C>T | CA2239820 | SETD5 | n.2814C>T c.3955C>T (p.His1319Tyr) n.4848C>T n.2239C>T n.6656C>T n.6101C>T c.3859C>T (p.His1287Tyr) c.*4005C>T (n.*4005C>T) c.*3928C>T (n.*3928C>T) c.*4233C>T (n.*4233C>T) c.*3964C>T (n.*3964C>T) c.3565C>T (p.His1189Tyr) c.2722+465C>T c.3916C>T (p.His1306Tyr) c.2895C>T n.990C>T n.3200C>T n.246C>T n.4023C>T c.4033C>T (p.His1345Tyr) c.4012C>T (p.His1338Tyr) c.3994C>T (p.His1332Tyr) c.3976C>T (p.His1326Tyr) c.3937C>T (p.His1313Tyr) c.3898C>T (p.His1300Tyr) c.3622C>T (p.His1208Tyr) c.3583C>T (p.His1195Tyr) c.3973C>T (p.His1325Tyr) c.3880C>T (p.His1294Tyr) c.3355C>T (p.His1119Tyr) c.3670C>T (p.His1224Tyr) n.8242C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
3 | g.9475622A>C | CA351691761 | SETD5 | n.2815A>C c.3956A>C (p.His1319Pro) n.4849A>C n.2240A>C n.6657A>C n.6102A>C c.3860A>C (p.His1287Pro) c.*4006A>C (n.*4006A>C) c.*3929A>C (n.*3929A>C) c.*4234A>C (n.*4234A>C) c.*3965A>C (n.*3965A>C) c.3566A>C (p.His1189Pro) c.2722+466A>C c.3917A>C (p.His1306Pro) c.2896A>C n.991A>C n.3201A>C n.247A>C n.4024A>C c.4034A>C (p.His1345Pro) c.4013A>C (p.His1338Pro) c.3995A>C (p.His1332Pro) c.3977A>C (p.His1326Pro) c.3938A>C (p.His1313Pro) c.3899A>C (p.His1300Pro) c.3623A>C (p.His1208Pro) c.3584A>C (p.His1195Pro) c.3974A>C (p.His1325Pro) c.3881A>C (p.His1294Pro) c.3356A>C (p.His1119Pro) c.3671A>C (p.His1224Pro) n.8243A>C | |
3 | g.9475622A>G | CA351691762 | SETD5 | n.2815A>G c.3956A>G (p.His1319Arg) n.4849A>G n.2240A>G n.6657A>G n.6102A>G c.3860A>G (p.His1287Arg) c.*4006A>G (n.*4006A>G) c.*3929A>G (n.*3929A>G) c.*4234A>G (n.*4234A>G) c.*3965A>G (n.*3965A>G) c.3566A>G (p.His1189Arg) c.2722+466A>G c.3917A>G (p.His1306Arg) c.2896A>G n.991A>G n.3201A>G n.247A>G n.4024A>G c.4034A>G (p.His1345Arg) c.4013A>G (p.His1338Arg) c.3995A>G (p.His1332Arg) c.3977A>G (p.His1326Arg) c.3938A>G (p.His1313Arg) c.3899A>G (p.His1300Arg) c.3623A>G (p.His1208Arg) c.3584A>G (p.His1195Arg) c.3974A>G (p.His1325Arg) c.3881A>G (p.His1294Arg) c.3356A>G (p.His1119Arg) c.3671A>G (p.His1224Arg) n.8243A>G | |
3 | g.9475622A>T | CA351691767 | SETD5 | n.2815A>T c.3956A>T (p.His1319Leu) n.4849A>T n.2240A>T n.6657A>T n.6102A>T c.3860A>T (p.His1287Leu) c.*4006A>T (n.*4006A>T) c.*3929A>T (n.*3929A>T) c.*4234A>T (n.*4234A>T) c.*3965A>T (n.*3965A>T) c.3566A>T (p.His1189Leu) c.2722+466A>T c.3917A>T (p.His1306Leu) c.2896A>T n.991A>T n.3201A>T n.247A>T n.4024A>T c.4034A>T (p.His1345Leu) c.4013A>T (p.His1338Leu) c.3995A>T (p.His1332Leu) c.3977A>T (p.His1326Leu) c.3938A>T (p.His1313Leu) c.3899A>T (p.His1300Leu) c.3623A>T (p.His1208Leu) c.3584A>T (p.His1195Leu) c.3974A>T (p.His1325Leu) c.3881A>T (p.His1294Leu) c.3356A>T (p.His1119Leu) c.3671A>T (p.His1224Leu) n.8243A>T | |
3 | g.9475623C>A | CA351691768 | SETD5 | n.2816C>A c.3957C>A (p.His1319Gln) n.4850C>A n.2241C>A n.6658C>A n.6103C>A c.3861C>A (p.His1287Gln) c.*4007C>A (n.*4007C>A) c.*3930C>A (n.*3930C>A) c.*4235C>A (n.*4235C>A) c.*3966C>A (n.*3966C>A) c.3567C>A (p.His1189Gln) c.2722+467C>A c.3918C>A (p.His1306Gln) c.2897C>A n.992C>A n.3202C>A n.248C>A n.4025C>A c.4035C>A (p.His1345Gln) c.4014C>A (p.His1338Gln) c.3996C>A (p.His1332Gln) c.3978C>A (p.His1326Gln) c.3939C>A (p.His1313Gln) c.3900C>A (p.His1300Gln) c.3624C>A (p.His1208Gln) c.3585C>A (p.His1195Gln) c.3975C>A (p.His1325Gln) c.3882C>A (p.His1294Gln) c.3357C>A (p.His1119Gln) c.3672C>A (p.His1224Gln) n.8244C>A | |
3 | g.9475623C= | CA1344742531 | SETD5 | n.2816C= c.3957C= (p.His1319=) n.4850C= n.2241C= n.6658C= n.6103C= c.3861C= (p.His1287=) c.*4007C= (n.*4007C=) c.*3930C= (n.*3930C=) c.*4235C= (n.*4235C=) c.*3966C= (n.*3966C=) c.3567C= (p.His1189=) c.2722+467C= c.3918C= (p.His1306=) c.2897C= n.992C= n.3202C= n.248C= n.4025C= c.4035C= (p.His1345=) c.4014C= (p.His1338=) c.3996C= (p.His1332=) c.3978C= (p.His1326=) c.3939C= (p.His1313=) c.3900C= (p.His1300=) c.3624C= (p.His1208=) c.3585C= (p.His1195=) c.3975C= (p.His1325=) c.3882C= (p.His1294=) c.3357C= (p.His1119=) c.3672C= (p.His1224=) n.8244C= | |
3 | g.9475623C>G | CA351691770 | SETD5 | n.2816C>G c.3957C>G (p.His1319Gln) n.4850C>G n.2241C>G n.6658C>G n.6103C>G c.3861C>G (p.His1287Gln) c.*4007C>G (n.*4007C>G) c.*3930C>G (n.*3930C>G) c.*4235C>G (n.*4235C>G) c.*3966C>G (n.*3966C>G) c.3567C>G (p.His1189Gln) c.2722+467C>G c.3918C>G (p.His1306Gln) c.2897C>G n.992C>G n.3202C>G n.248C>G n.4025C>G c.4035C>G (p.His1345Gln) c.4014C>G (p.His1338Gln) c.3996C>G (p.His1332Gln) c.3978C>G (p.His1326Gln) c.3939C>G (p.His1313Gln) c.3900C>G (p.His1300Gln) c.3624C>G (p.His1208Gln) c.3585C>G (p.His1195Gln) c.3975C>G (p.His1325Gln) c.3882C>G (p.His1294Gln) c.3357C>G (p.His1119Gln) c.3672C>G (p.His1224Gln) n.8244C>G | gnomAD v4 |
3 | g.9475623C>T | CA69951944 | SETD5 | n.2816C>T c.3957C>T (p.His1319=) n.4850C>T n.2241C>T n.6658C>T n.6103C>T c.3861C>T (p.His1287=) c.*4007C>T (n.*4007C>T) c.*3930C>T (n.*3930C>T) c.*4235C>T (n.*4235C>T) c.*3966C>T (n.*3966C>T) c.3567C>T (p.His1189=) c.2722+467C>T c.3918C>T (p.His1306=) c.2897C>T n.992C>T n.3202C>T n.248C>T n.4025C>T c.4035C>T (p.His1345=) c.4014C>T (p.His1338=) c.3996C>T (p.His1332=) c.3978C>T (p.His1326=) c.3939C>T (p.His1313=) c.3900C>T (p.His1300=) c.3624C>T (p.His1208=) c.3585C>T (p.His1195=) c.3975C>T (p.His1325=) c.3882C>T (p.His1294=) c.3357C>T (p.His1119=) c.3672C>T (p.His1224=) n.8244C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.9475624G>A | CA2239821 | SETD5 | n.2817G>A c.3958G>A (p.Gly1320Ser) n.4851G>A n.2242G>A n.6659G>A n.6104G>A c.3862G>A (p.Gly1288Ser) c.*4008G>A (n.*4008G>A) c.*3931G>A (n.*3931G>A) c.*4236G>A (n.*4236G>A) c.*3967G>A (n.*3967G>A) c.3568G>A (p.Gly1190Ser) c.2722+468G>A c.3919G>A (p.Gly1307Ser) c.2898G>A n.993G>A n.3203G>A n.249G>A n.4026G>A c.4036G>A (p.Gly1346Ser) c.4015G>A (p.Gly1339Ser) c.3997G>A (p.Gly1333Ser) c.3979G>A (p.Gly1327Ser) c.3940G>A (p.Gly1314Ser) c.3901G>A (p.Gly1301Ser) c.3625G>A (p.Gly1209Ser) c.3586G>A (p.Gly1196Ser) c.3976G>A (p.Gly1326Ser) c.3883G>A (p.Gly1295Ser) c.3358G>A (p.Gly1120Ser) c.3673G>A (p.Gly1225Ser) n.8245G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475624G>C | CA351691774 | SETD5 | n.2817G>C c.3958G>C (p.Gly1320Arg) n.4851G>C n.2242G>C n.6659G>C n.6104G>C c.3862G>C (p.Gly1288Arg) c.*4008G>C (n.*4008G>C) c.*3931G>C (n.*3931G>C) c.*4236G>C (n.*4236G>C) c.*3967G>C (n.*3967G>C) c.3568G>C (p.Gly1190Arg) c.2722+468G>C c.3919G>C (p.Gly1307Arg) c.2898G>C n.993G>C n.3203G>C n.249G>C n.4026G>C c.4036G>C (p.Gly1346Arg) c.4015G>C (p.Gly1339Arg) c.3997G>C (p.Gly1333Arg) c.3979G>C (p.Gly1327Arg) c.3940G>C (p.Gly1314Arg) c.3901G>C (p.Gly1301Arg) c.3625G>C (p.Gly1209Arg) c.3586G>C (p.Gly1196Arg) c.3976G>C (p.Gly1326Arg) c.3883G>C (p.Gly1295Arg) c.3358G>C (p.Gly1120Arg) c.3673G>C (p.Gly1225Arg) n.8245G>C | gnomAD v4 |
3 | g.9475624G= | CA1344742536 | SETD5 | n.2817G= c.3958G= (p.Gly1320=) n.4851G= n.2242G= n.6659G= n.6104G= c.3862G= (p.Gly1288=) c.*4008G= (n.*4008G=) c.*3931G= (n.*3931G=) c.*4236G= (n.*4236G=) c.*3967G= (n.*3967G=) c.3568G= (p.Gly1190=) c.2722+468G= c.3919G= (p.Gly1307=) c.2898G= n.993G= n.3203G= n.249G= n.4026G= c.4036G= (p.Gly1346=) c.4015G= (p.Gly1339=) c.3997G= (p.Gly1333=) c.3979G= (p.Gly1327=) c.3940G= (p.Gly1314=) c.3901G= (p.Gly1301=) c.3625G= (p.Gly1209=) c.3586G= (p.Gly1196=) c.3976G= (p.Gly1326=) c.3883G= (p.Gly1295=) c.3358G= (p.Gly1120=) c.3673G= (p.Gly1225=) n.8245G= | |
3 | g.9475624G>T | CA351691776 | SETD5 | n.2817G>T c.3958G>T (p.Gly1320Cys) n.4851G>T n.2242G>T n.6659G>T n.6104G>T c.3862G>T (p.Gly1288Cys) c.*4008G>T (n.*4008G>T) c.*3931G>T (n.*3931G>T) c.*4236G>T (n.*4236G>T) c.*3967G>T (n.*3967G>T) c.3568G>T (p.Gly1190Cys) c.2722+468G>T c.3919G>T (p.Gly1307Cys) c.2898G>T n.993G>T n.3203G>T n.249G>T n.4026G>T c.4036G>T (p.Gly1346Cys) c.4015G>T (p.Gly1339Cys) c.3997G>T (p.Gly1333Cys) c.3979G>T (p.Gly1327Cys) c.3940G>T (p.Gly1314Cys) c.3901G>T (p.Gly1301Cys) c.3625G>T (p.Gly1209Cys) c.3586G>T (p.Gly1196Cys) c.3976G>T (p.Gly1326Cys) c.3883G>T (p.Gly1295Cys) c.3358G>T (p.Gly1120Cys) c.3673G>T (p.Gly1225Cys) n.8245G>T | gnomAD v4 |
3 | g.9475625G>A | CA351691788 | SETD5 | n.2818G>A c.3959G>A (p.Gly1320Asp) n.4852G>A n.2243G>A n.6660G>A n.6105G>A c.3863G>A (p.Gly1288Asp) c.*4009G>A (n.*4009G>A) c.*3932G>A (n.*3932G>A) c.*4237G>A (n.*4237G>A) c.*3968G>A (n.*3968G>A) c.3569G>A (p.Gly1190Asp) c.2722+469G>A c.3920G>A (p.Gly1307Asp) c.2899G>A n.994G>A n.3204G>A n.250G>A n.4027G>A c.4037G>A (p.Gly1346Asp) c.4016G>A (p.Gly1339Asp) c.3998G>A (p.Gly1333Asp) c.3980G>A (p.Gly1327Asp) c.3941G>A (p.Gly1314Asp) c.3902G>A (p.Gly1301Asp) c.3626G>A (p.Gly1209Asp) c.3587G>A (p.Gly1196Asp) c.3977G>A (p.Gly1326Asp) c.3884G>A (p.Gly1295Asp) c.3359G>A (p.Gly1120Asp) c.3674G>A (p.Gly1225Asp) n.8246G>A | dbSNP gnomAD v3 gnomAD v4 |
3 | g.9475625G>C | CA351691789 | SETD5 | n.2818G>C c.3959G>C (p.Gly1320Ala) n.4852G>C n.2243G>C n.6660G>C n.6105G>C c.3863G>C (p.Gly1288Ala) c.*4009G>C (n.*4009G>C) c.*3932G>C (n.*3932G>C) c.*4237G>C (n.*4237G>C) c.*3968G>C (n.*3968G>C) c.3569G>C (p.Gly1190Ala) c.2722+469G>C c.3920G>C (p.Gly1307Ala) c.2899G>C n.994G>C n.3204G>C n.250G>C n.4027G>C c.4037G>C (p.Gly1346Ala) c.4016G>C (p.Gly1339Ala) c.3998G>C (p.Gly1333Ala) c.3980G>C (p.Gly1327Ala) c.3941G>C (p.Gly1314Ala) c.3902G>C (p.Gly1301Ala) c.3626G>C (p.Gly1209Ala) c.3587G>C (p.Gly1196Ala) c.3977G>C (p.Gly1326Ala) c.3884G>C (p.Gly1295Ala) c.3359G>C (p.Gly1120Ala) c.3674G>C (p.Gly1225Ala) n.8246G>C | |
3 | g.9475625G= | CA1344742541 | SETD5 | n.2818G= c.3959G= (p.Gly1320=) n.4852G= n.2243G= n.6660G= n.6105G= c.3863G= (p.Gly1288=) c.*4009G= (n.*4009G=) c.*3932G= (n.*3932G=) c.*4237G= (n.*4237G=) c.*3968G= (n.*3968G=) c.3569G= (p.Gly1190=) c.2722+469G= c.3920G= (p.Gly1307=) c.2899G= n.994G= n.3204G= n.250G= n.4027G= c.4037G= (p.Gly1346=) c.4016G= (p.Gly1339=) c.3998G= (p.Gly1333=) c.3980G= (p.Gly1327=) c.3941G= (p.Gly1314=) c.3902G= (p.Gly1301=) c.3626G= (p.Gly1209=) c.3587G= (p.Gly1196=) c.3977G= (p.Gly1326=) c.3884G= (p.Gly1295=) c.3359G= (p.Gly1120=) c.3674G= (p.Gly1225=) n.8246G= | |
3 | g.9475625G>T | CA351691790 | SETD5 | n.2818G>T c.3959G>T (p.Gly1320Val) n.4852G>T n.2243G>T n.6660G>T n.6105G>T c.3863G>T (p.Gly1288Val) c.*4009G>T (n.*4009G>T) c.*3932G>T (n.*3932G>T) c.*4237G>T (n.*4237G>T) c.*3968G>T (n.*3968G>T) c.3569G>T (p.Gly1190Val) c.2722+469G>T c.3920G>T (p.Gly1307Val) c.2899G>T n.994G>T n.3204G>T n.250G>T n.4027G>T c.4037G>T (p.Gly1346Val) c.4016G>T (p.Gly1339Val) c.3998G>T (p.Gly1333Val) c.3980G>T (p.Gly1327Val) c.3941G>T (p.Gly1314Val) c.3902G>T (p.Gly1301Val) c.3626G>T (p.Gly1209Val) c.3587G>T (p.Gly1196Val) c.3977G>T (p.Gly1326Val) c.3884G>T (p.Gly1295Val) c.3359G>T (p.Gly1120Val) c.3674G>T (p.Gly1225Val) n.8246G>T | |
3 | g.9475626T>A | CA432528690 | SETD5 | n.2819T>A c.3960T>A (p.Gly1320=) n.4853T>A n.2244T>A n.6661T>A n.6106T>A c.3864T>A (p.Gly1288=) c.*4010T>A (n.*4010T>A) c.*3933T>A (n.*3933T>A) c.*4238T>A (n.*4238T>A) c.*3969T>A (n.*3969T>A) c.3570T>A (p.Gly1190=) c.2722+470T>A c.3921T>A (p.Gly1307=) c.2900T>A n.995T>A n.3205T>A n.251T>A n.4028T>A c.4038T>A (p.Gly1346=) c.4017T>A (p.Gly1339=) c.3999T>A (p.Gly1333=) c.3981T>A (p.Gly1327=) c.3942T>A (p.Gly1314=) c.3903T>A (p.Gly1301=) c.3627T>A (p.Gly1209=) c.3588T>A (p.Gly1196=) c.3978T>A (p.Gly1326=) c.3885T>A (p.Gly1295=) c.3360T>A (p.Gly1120=) c.3675T>A (p.Gly1225=) n.8247T>A | |
3 | g.9475626T>C | CA432528688 | SETD5 | n.2819T>C c.3960T>C (p.Gly1320=) n.4853T>C n.2244T>C n.6661T>C n.6106T>C c.3864T>C (p.Gly1288=) c.*4010T>C (n.*4010T>C) c.*3933T>C (n.*3933T>C) c.*4238T>C (n.*4238T>C) c.*3969T>C (n.*3969T>C) c.3570T>C (p.Gly1190=) c.2722+470T>C c.3921T>C (p.Gly1307=) c.2900T>C n.995T>C n.3205T>C n.251T>C n.4028T>C c.4038T>C (p.Gly1346=) c.4017T>C (p.Gly1339=) c.3999T>C (p.Gly1333=) c.3981T>C (p.Gly1327=) c.3942T>C (p.Gly1314=) c.3903T>C (p.Gly1301=) c.3627T>C (p.Gly1209=) c.3588T>C (p.Gly1196=) c.3978T>C (p.Gly1326=) c.3885T>C (p.Gly1295=) c.3360T>C (p.Gly1120=) c.3675T>C (p.Gly1225=) n.8247T>C | |
3 | g.9475626T>G | CA432528689 | SETD5 | n.2819T>G c.3960T>G (p.Gly1320=) n.4853T>G n.2244T>G n.6661T>G n.6106T>G c.3864T>G (p.Gly1288=) c.*4010T>G (n.*4010T>G) c.*3933T>G (n.*3933T>G) c.*4238T>G (n.*4238T>G) c.*3969T>G (n.*3969T>G) c.3570T>G (p.Gly1190=) c.2722+470T>G c.3921T>G (p.Gly1307=) c.2900T>G n.995T>G n.3205T>G n.251T>G n.4028T>G c.4038T>G (p.Gly1346=) c.4017T>G (p.Gly1339=) c.3999T>G (p.Gly1333=) c.3981T>G (p.Gly1327=) c.3942T>G (p.Gly1314=) c.3903T>G (p.Gly1301=) c.3627T>G (p.Gly1209=) c.3588T>G (p.Gly1196=) c.3978T>G (p.Gly1326=) c.3885T>G (p.Gly1295=) c.3360T>G (p.Gly1120=) c.3675T>G (p.Gly1225=) n.8247T>G | |
3 | g.9475627T>A | CA351691801 | SETD5 | n.2820T>A c.3961T>A (p.Ser1321Thr) n.4854T>A n.2245T>A n.6662T>A n.6107T>A c.3865T>A (p.Ser1289Thr) c.*4011T>A (n.*4011T>A) c.*3934T>A (n.*3934T>A) c.*4239T>A (n.*4239T>A) c.*3970T>A (n.*3970T>A) c.3571T>A (p.Ser1191Thr) c.2722+471T>A c.3922T>A (p.Ser1308Thr) c.2901T>A n.996T>A n.3206T>A n.252T>A n.4029T>A c.4039T>A (p.Ser1347Thr) c.4018T>A (p.Ser1340Thr) c.4000T>A (p.Ser1334Thr) c.3982T>A (p.Ser1328Thr) c.3943T>A (p.Ser1315Thr) c.3904T>A (p.Ser1302Thr) c.3628T>A (p.Ser1210Thr) c.3589T>A (p.Ser1197Thr) c.3979T>A (p.Ser1327Thr) c.3886T>A (p.Ser1296Thr) c.3361T>A (p.Ser1121Thr) c.3676T>A (p.Ser1226Thr) n.8248T>A | |
3 | g.9475627T>C | CA351691798 | SETD5 | n.2820T>C c.3961T>C (p.Ser1321Pro) n.4854T>C n.2245T>C n.6662T>C n.6107T>C c.3865T>C (p.Ser1289Pro) c.*4011T>C (n.*4011T>C) c.*3934T>C (n.*3934T>C) c.*4239T>C (n.*4239T>C) c.*3970T>C (n.*3970T>C) c.3571T>C (p.Ser1191Pro) c.2722+471T>C c.3922T>C (p.Ser1308Pro) c.2901T>C n.996T>C n.3206T>C n.252T>C n.4029T>C c.4039T>C (p.Ser1347Pro) c.4018T>C (p.Ser1340Pro) c.4000T>C (p.Ser1334Pro) c.3982T>C (p.Ser1328Pro) c.3943T>C (p.Ser1315Pro) c.3904T>C (p.Ser1302Pro) c.3628T>C (p.Ser1210Pro) c.3589T>C (p.Ser1197Pro) c.3979T>C (p.Ser1327Pro) c.3886T>C (p.Ser1296Pro) c.3361T>C (p.Ser1121Pro) c.3676T>C (p.Ser1226Pro) n.8248T>C | |
3 | g.9475627T>G | CA351691795 | SETD5 | n.2820T>G c.3961T>G (p.Ser1321Ala) n.4854T>G n.2245T>G n.6662T>G n.6107T>G c.3865T>G (p.Ser1289Ala) c.*4011T>G (n.*4011T>G) c.*3934T>G (n.*3934T>G) c.*4239T>G (n.*4239T>G) c.*3970T>G (n.*3970T>G) c.3571T>G (p.Ser1191Ala) c.2722+471T>G c.3922T>G (p.Ser1308Ala) c.2901T>G n.996T>G n.3206T>G n.252T>G n.4029T>G c.4039T>G (p.Ser1347Ala) c.4018T>G (p.Ser1340Ala) c.4000T>G (p.Ser1334Ala) c.3982T>G (p.Ser1328Ala) c.3943T>G (p.Ser1315Ala) c.3904T>G (p.Ser1302Ala) c.3628T>G (p.Ser1210Ala) c.3589T>G (p.Ser1197Ala) c.3979T>G (p.Ser1327Ala) c.3886T>G (p.Ser1296Ala) c.3361T>G (p.Ser1121Ala) c.3676T>G (p.Ser1226Ala) n.8248T>G | |
3 | g.9475628C>A | CA69951948 | SETD5 | n.2821C>A c.3962C>A (p.Ser1321Tyr) n.4855C>A n.2246C>A n.6663C>A n.6108C>A c.3866C>A (p.Ser1289Tyr) c.*4012C>A (n.*4012C>A) c.*3935C>A (n.*3935C>A) c.*4240C>A (n.*4240C>A) c.*3971C>A (n.*3971C>A) c.3572C>A (p.Ser1191Tyr) c.2722+472C>A c.3923C>A (p.Ser1308Tyr) c.2902C>A n.997C>A n.3207C>A n.253C>A n.4030C>A c.4040C>A (p.Ser1347Tyr) c.4019C>A (p.Ser1340Tyr) c.4001C>A (p.Ser1334Tyr) c.3983C>A (p.Ser1328Tyr) c.3944C>A (p.Ser1315Tyr) c.3905C>A (p.Ser1302Tyr) c.3629C>A (p.Ser1210Tyr) c.3590C>A (p.Ser1197Tyr) c.3980C>A (p.Ser1327Tyr) c.3887C>A (p.Ser1296Tyr) c.3362C>A (p.Ser1121Tyr) c.3677C>A (p.Ser1226Tyr) n.8249C>A | dbSNP |
3 | g.9475628C= | CA1344742544 | SETD5 | n.2821C= c.3962C= (p.Ser1321=) n.4855C= n.2246C= n.6663C= n.6108C= c.3866C= (p.Ser1289=) c.*4012C= (n.*4012C=) c.*3935C= (n.*3935C=) c.*4240C= (n.*4240C=) c.*3971C= (n.*3971C=) c.3572C= (p.Ser1191=) c.2722+472C= c.3923C= (p.Ser1308=) c.2902C= n.997C= n.3207C= n.253C= n.4030C= c.4040C= (p.Ser1347=) c.4019C= (p.Ser1340=) c.4001C= (p.Ser1334=) c.3983C= (p.Ser1328=) c.3944C= (p.Ser1315=) c.3905C= (p.Ser1302=) c.3629C= (p.Ser1210=) c.3590C= (p.Ser1197=) c.3980C= (p.Ser1327=) c.3887C= (p.Ser1296=) c.3362C= (p.Ser1121=) c.3677C= (p.Ser1226=) n.8249C= | |
3 | g.9475628C>G | CA351691812 | SETD5 | n.2821C>G c.3962C>G (p.Ser1321Cys) n.4855C>G n.2246C>G n.6663C>G n.6108C>G c.3866C>G (p.Ser1289Cys) c.*4012C>G (n.*4012C>G) c.*3935C>G (n.*3935C>G) c.*4240C>G (n.*4240C>G) c.*3971C>G (n.*3971C>G) c.3572C>G (p.Ser1191Cys) c.2722+472C>G c.3923C>G (p.Ser1308Cys) c.2902C>G n.997C>G n.3207C>G n.253C>G n.4030C>G c.4040C>G (p.Ser1347Cys) c.4019C>G (p.Ser1340Cys) c.4001C>G (p.Ser1334Cys) c.3983C>G (p.Ser1328Cys) c.3944C>G (p.Ser1315Cys) c.3905C>G (p.Ser1302Cys) c.3629C>G (p.Ser1210Cys) c.3590C>G (p.Ser1197Cys) c.3980C>G (p.Ser1327Cys) c.3887C>G (p.Ser1296Cys) c.3362C>G (p.Ser1121Cys) c.3677C>G (p.Ser1226Cys) n.8249C>G | gnomAD v4 |
3 | g.9475628C>T | CA351691820 | SETD5 | n.2821C>T c.3962C>T (p.Ser1321Phe) n.4855C>T n.2246C>T n.6663C>T n.6108C>T c.3866C>T (p.Ser1289Phe) c.*4012C>T (n.*4012C>T) c.*3935C>T (n.*3935C>T) c.*4240C>T (n.*4240C>T) c.*3971C>T (n.*3971C>T) c.3572C>T (p.Ser1191Phe) c.2722+472C>T c.3923C>T (p.Ser1308Phe) c.2902C>T n.997C>T n.3207C>T n.253C>T n.4030C>T c.4040C>T (p.Ser1347Phe) c.4019C>T (p.Ser1340Phe) c.4001C>T (p.Ser1334Phe) c.3983C>T (p.Ser1328Phe) c.3944C>T (p.Ser1315Phe) c.3905C>T (p.Ser1302Phe) c.3629C>T (p.Ser1210Phe) c.3590C>T (p.Ser1197Phe) c.3980C>T (p.Ser1327Phe) c.3887C>T (p.Ser1296Phe) c.3362C>T (p.Ser1121Phe) c.3677C>T (p.Ser1226Phe) n.8249C>T | dbSNP |
3 | g.9475629T>A | CA432528692 | SETD5 | n.2822T>A c.3963T>A (p.Ser1321=) n.4856T>A n.2247T>A n.6664T>A n.6109T>A c.3867T>A (p.Ser1289=) c.*4013T>A (n.*4013T>A) c.*3936T>A (n.*3936T>A) c.*4241T>A (n.*4241T>A) c.*3972T>A (n.*3972T>A) c.3573T>A (p.Ser1191=) c.2722+473T>A c.3924T>A (p.Ser1308=) c.2903T>A n.998T>A n.3208T>A n.254T>A n.4031T>A c.4041T>A (p.Ser1347=) c.4020T>A (p.Ser1340=) c.4002T>A (p.Ser1334=) c.3984T>A (p.Ser1328=) c.3945T>A (p.Ser1315=) c.3906T>A (p.Ser1302=) c.3630T>A (p.Ser1210=) c.3591T>A (p.Ser1197=) c.3981T>A (p.Ser1327=) c.3888T>A (p.Ser1296=) c.3363T>A (p.Ser1121=) c.3678T>A (p.Ser1226=) n.8250T>A | |
3 | g.9475629T>C | CA432528694 | SETD5 | n.2822T>C c.3963T>C (p.Ser1321=) n.4856T>C n.2247T>C n.6664T>C n.6109T>C c.3867T>C (p.Ser1289=) c.*4013T>C (n.*4013T>C) c.*3936T>C (n.*3936T>C) c.*4241T>C (n.*4241T>C) c.*3972T>C (n.*3972T>C) c.3573T>C (p.Ser1191=) c.2722+473T>C c.3924T>C (p.Ser1308=) c.2903T>C n.998T>C n.3208T>C n.254T>C n.4031T>C c.4041T>C (p.Ser1347=) c.4020T>C (p.Ser1340=) c.4002T>C (p.Ser1334=) c.3984T>C (p.Ser1328=) c.3945T>C (p.Ser1315=) c.3906T>C (p.Ser1302=) c.3630T>C (p.Ser1210=) c.3591T>C (p.Ser1197=) c.3981T>C (p.Ser1327=) c.3888T>C (p.Ser1296=) c.3363T>C (p.Ser1121=) c.3678T>C (p.Ser1226=) n.8250T>C | |
3 | g.9475629T>G | CA432528695 | SETD5 | n.2822T>G c.3963T>G (p.Ser1321=) n.4856T>G n.2247T>G n.6664T>G n.6109T>G c.3867T>G (p.Ser1289=) c.*4013T>G (n.*4013T>G) c.*3936T>G (n.*3936T>G) c.*4241T>G (n.*4241T>G) c.*3972T>G (n.*3972T>G) c.3573T>G (p.Ser1191=) c.2722+473T>G c.3924T>G (p.Ser1308=) c.2903T>G n.998T>G n.3208T>G n.254T>G n.4031T>G c.4041T>G (p.Ser1347=) c.4020T>G (p.Ser1340=) c.4002T>G (p.Ser1334=) c.3984T>G (p.Ser1328=) c.3945T>G (p.Ser1315=) c.3906T>G (p.Ser1302=) c.3630T>G (p.Ser1210=) c.3591T>G (p.Ser1197=) c.3981T>G (p.Ser1327=) c.3888T>G (p.Ser1296=) c.3363T>G (p.Ser1121=) c.3678T>G (p.Ser1226=) n.8250T>G | |
3 | g.9475630T>A | CA351691825 | SETD5 | n.2823T>A c.3964T>A (p.Ser1322Thr) n.4857T>A n.2248T>A n.6665T>A n.6110T>A c.3868T>A (p.Ser1290Thr) c.*4014T>A (n.*4014T>A) c.*3937T>A (n.*3937T>A) c.*4242T>A (n.*4242T>A) c.*3973T>A (n.*3973T>A) c.3574T>A (p.Ser1192Thr) c.2722+474T>A c.3925T>A (p.Ser1309Thr) c.2904T>A n.999T>A n.3209T>A n.255T>A n.4032T>A c.4042T>A (p.Ser1348Thr) c.4021T>A (p.Ser1341Thr) c.4003T>A (p.Ser1335Thr) c.3985T>A (p.Ser1329Thr) c.3946T>A (p.Ser1316Thr) c.3907T>A (p.Ser1303Thr) c.3631T>A (p.Ser1211Thr) c.3592T>A (p.Ser1198Thr) c.3982T>A (p.Ser1328Thr) c.3889T>A (p.Ser1297Thr) c.3364T>A (p.Ser1122Thr) c.3679T>A (p.Ser1227Thr) n.8251T>A | gnomAD v4 |
3 | g.9475630T>C | CA351691826 | SETD5 | n.2823T>C c.3964T>C (p.Ser1322Pro) n.4857T>C n.2248T>C n.6665T>C n.6110T>C c.3868T>C (p.Ser1290Pro) c.*4014T>C (n.*4014T>C) c.*3937T>C (n.*3937T>C) c.*4242T>C (n.*4242T>C) c.*3973T>C (n.*3973T>C) c.3574T>C (p.Ser1192Pro) c.2722+474T>C c.3925T>C (p.Ser1309Pro) c.2904T>C n.999T>C n.3209T>C n.255T>C n.4032T>C c.4042T>C (p.Ser1348Pro) c.4021T>C (p.Ser1341Pro) c.4003T>C (p.Ser1335Pro) c.3985T>C (p.Ser1329Pro) c.3946T>C (p.Ser1316Pro) c.3907T>C (p.Ser1303Pro) c.3631T>C (p.Ser1211Pro) c.3592T>C (p.Ser1198Pro) c.3982T>C (p.Ser1328Pro) c.3889T>C (p.Ser1297Pro) c.3364T>C (p.Ser1122Pro) c.3679T>C (p.Ser1227Pro) n.8251T>C | |
3 | g.9475630T>G | CA351691827 | SETD5 | n.2823T>G c.3964T>G (p.Ser1322Ala) n.4857T>G n.2248T>G n.6665T>G n.6110T>G c.3868T>G (p.Ser1290Ala) c.*4014T>G (n.*4014T>G) c.*3937T>G (n.*3937T>G) c.*4242T>G (n.*4242T>G) c.*3973T>G (n.*3973T>G) c.3574T>G (p.Ser1192Ala) c.2722+474T>G c.3925T>G (p.Ser1309Ala) c.2904T>G n.999T>G n.3209T>G n.255T>G n.4032T>G c.4042T>G (p.Ser1348Ala) c.4021T>G (p.Ser1341Ala) c.4003T>G (p.Ser1335Ala) c.3985T>G (p.Ser1329Ala) c.3946T>G (p.Ser1316Ala) c.3907T>G (p.Ser1303Ala) c.3631T>G (p.Ser1211Ala) c.3592T>G (p.Ser1198Ala) c.3982T>G (p.Ser1328Ala) c.3889T>G (p.Ser1297Ala) c.3364T>G (p.Ser1122Ala) c.3679T>G (p.Ser1227Ala) n.8251T>G | |
3 | g.9475631C>A | CA351691829 | SETD5 | n.2824C>A c.3965C>A (p.Ser1322Ter) n.4858C>A n.2249C>A n.6666C>A n.6111C>A c.3869C>A (p.Ser1290Ter) c.*4015C>A (n.*4015C>A) c.*3938C>A (n.*3938C>A) c.*4243C>A (n.*4243C>A) c.*3974C>A (n.*3974C>A) c.3575C>A (p.Ser1192Ter) c.2722+475C>A c.3926C>A (p.Ser1309Ter) c.2905C>A n.1000C>A n.3210C>A n.256C>A n.4033C>A c.4043C>A (p.Ser1348Ter) c.4022C>A (p.Ser1341Ter) c.4004C>A (p.Ser1335Ter) c.3986C>A (p.Ser1329Ter) c.3947C>A (p.Ser1316Ter) c.3908C>A (p.Ser1303Ter) c.3632C>A (p.Ser1211Ter) c.3593C>A (p.Ser1198Ter) c.3983C>A (p.Ser1328Ter) c.3890C>A (p.Ser1297Ter) c.3365C>A (p.Ser1122Ter) c.3680C>A (p.Ser1227Ter) n.8252C>A | |
3 | g.9475631C= | CA1344742547 | SETD5 | n.2824C= c.3965C= (p.Ser1322=) n.4858C= n.2249C= n.6666C= n.6111C= c.3869C= (p.Ser1290=) c.*4015C= (n.*4015C=) c.*3938C= (n.*3938C=) c.*4243C= (n.*4243C=) c.*3974C= (n.*3974C=) c.3575C= (p.Ser1192=) c.2722+475C= c.3926C= (p.Ser1309=) c.2905C= n.1000C= n.3210C= n.256C= n.4033C= c.4043C= (p.Ser1348=) c.4022C= (p.Ser1341=) c.4004C= (p.Ser1335=) c.3986C= (p.Ser1329=) c.3947C= (p.Ser1316=) c.3908C= (p.Ser1303=) c.3632C= (p.Ser1211=) c.3593C= (p.Ser1198=) c.3983C= (p.Ser1328=) c.3890C= (p.Ser1297=) c.3365C= (p.Ser1122=) c.3680C= (p.Ser1227=) n.8252C= | |
3 | g.9475631C>G | CA351691844 | SETD5 | n.2824C>G c.3965C>G (p.Ser1322Ter) n.4858C>G n.2249C>G n.6666C>G n.6111C>G c.3869C>G (p.Ser1290Ter) c.*4015C>G (n.*4015C>G) c.*3938C>G (n.*3938C>G) c.*4243C>G (n.*4243C>G) c.*3974C>G (n.*3974C>G) c.3575C>G (p.Ser1192Ter) c.2722+475C>G c.3926C>G (p.Ser1309Ter) c.2905C>G n.1000C>G n.3210C>G n.256C>G n.4033C>G c.4043C>G (p.Ser1348Ter) c.4022C>G (p.Ser1341Ter) c.4004C>G (p.Ser1335Ter) c.3986C>G (p.Ser1329Ter) c.3947C>G (p.Ser1316Ter) c.3908C>G (p.Ser1303Ter) c.3632C>G (p.Ser1211Ter) c.3593C>G (p.Ser1198Ter) c.3983C>G (p.Ser1328Ter) c.3890C>G (p.Ser1297Ter) c.3365C>G (p.Ser1122Ter) c.3680C>G (p.Ser1227Ter) n.8252C>G | |
3 | g.9475631C>T | CA351691834 | SETD5 | n.2824C>T c.3965C>T (p.Ser1322Leu) n.4858C>T n.2249C>T n.6666C>T n.6111C>T c.3869C>T (p.Ser1290Leu) c.*4015C>T (n.*4015C>T) c.*3938C>T (n.*3938C>T) c.*4243C>T (n.*4243C>T) c.*3974C>T (n.*3974C>T) c.3575C>T (p.Ser1192Leu) c.2722+475C>T c.3926C>T (p.Ser1309Leu) c.2905C>T n.1000C>T n.3210C>T n.256C>T n.4033C>T c.4043C>T (p.Ser1348Leu) c.4022C>T (p.Ser1341Leu) c.4004C>T (p.Ser1335Leu) c.3986C>T (p.Ser1329Leu) c.3947C>T (p.Ser1316Leu) c.3908C>T (p.Ser1303Leu) c.3632C>T (p.Ser1211Leu) c.3593C>T (p.Ser1198Leu) c.3983C>T (p.Ser1328Leu) c.3890C>T (p.Ser1297Leu) c.3365C>T (p.Ser1122Leu) c.3680C>T (p.Ser1227Leu) n.8252C>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.9475632A>C | CA432528708 | SETD5 | n.2825A>C c.3966A>C (p.Ser1322=) n.4859A>C n.2250A>C n.6667A>C n.6112A>C c.3870A>C (p.Ser1290=) c.*4016A>C (n.*4016A>C) c.*3939A>C (n.*3939A>C) c.*4244A>C (n.*4244A>C) c.*3975A>C (n.*3975A>C) c.3576A>C (p.Ser1192=) c.2722+476A>C c.3927A>C (p.Ser1309=) c.2906A>C n.1001A>C n.3211A>C n.257A>C n.4034A>C c.4044A>C (p.Ser1348=) c.4023A>C (p.Ser1341=) c.4005A>C (p.Ser1335=) c.3987A>C (p.Ser1329=) c.3948A>C (p.Ser1316=) c.3909A>C (p.Ser1303=) c.3633A>C (p.Ser1211=) c.3594A>C (p.Ser1198=) c.3984A>C (p.Ser1328=) c.3891A>C (p.Ser1297=) c.3366A>C (p.Ser1122=) c.3681A>C (p.Ser1227=) n.8253A>C | |
3 | g.9475632A>G | CA432528703 | SETD5 | n.2825A>G c.3966A>G (p.Ser1322=) n.4859A>G n.2250A>G n.6667A>G n.6112A>G c.3870A>G (p.Ser1290=) c.*4016A>G (n.*4016A>G) c.*3939A>G (n.*3939A>G) c.*4244A>G (n.*4244A>G) c.*3975A>G (n.*3975A>G) c.3576A>G (p.Ser1192=) c.2722+476A>G c.3927A>G (p.Ser1309=) c.2906A>G n.1001A>G n.3211A>G n.257A>G n.4034A>G c.4044A>G (p.Ser1348=) c.4023A>G (p.Ser1341=) c.4005A>G (p.Ser1335=) c.3987A>G (p.Ser1329=) c.3948A>G (p.Ser1316=) c.3909A>G (p.Ser1303=) c.3633A>G (p.Ser1211=) c.3594A>G (p.Ser1198=) c.3984A>G (p.Ser1328=) c.3891A>G (p.Ser1297=) c.3366A>G (p.Ser1122=) c.3681A>G (p.Ser1227=) n.8253A>G | |
3 | g.9475632A>T | CA432528706 | SETD5 | n.2825A>T c.3966A>T (p.Ser1322=) n.4859A>T n.2250A>T n.6667A>T n.6112A>T c.3870A>T (p.Ser1290=) c.*4016A>T (n.*4016A>T) c.*3939A>T (n.*3939A>T) c.*4244A>T (n.*4244A>T) c.*3975A>T (n.*3975A>T) c.3576A>T (p.Ser1192=) c.2722+476A>T c.3927A>T (p.Ser1309=) c.2906A>T n.1001A>T n.3211A>T n.257A>T n.4034A>T c.4044A>T (p.Ser1348=) c.4023A>T (p.Ser1341=) c.4005A>T (p.Ser1335=) c.3987A>T (p.Ser1329=) c.3948A>T (p.Ser1316=) c.3909A>T (p.Ser1303=) c.3633A>T (p.Ser1211=) c.3594A>T (p.Ser1198=) c.3984A>T (p.Ser1328=) c.3891A>T (p.Ser1297=) c.3366A>T (p.Ser1122=) c.3681A>T (p.Ser1227=) n.8253A>T | |
3 | g.9475633G>A | CA351691849 | SETD5 | n.2826G>A c.3967G>A (p.Glu1323Lys) n.4860G>A n.2251G>A n.6668G>A n.6113G>A c.3871G>A (p.Glu1291Lys) c.*4017G>A (n.*4017G>A) c.*3940G>A (n.*3940G>A) c.*4245G>A (n.*4245G>A) c.*3976G>A (n.*3976G>A) c.3577G>A (p.Glu1193Lys) c.2722+477G>A c.3928G>A (p.Glu1310Lys) c.2907G>A n.1002G>A n.3212G>A n.258G>A n.4035G>A c.4045G>A (p.Glu1349Lys) c.4024G>A (p.Glu1342Lys) c.4006G>A (p.Glu1336Lys) c.3988G>A (p.Glu1330Lys) c.3949G>A (p.Glu1317Lys) c.3910G>A (p.Glu1304Lys) c.3634G>A (p.Glu1212Lys) c.3595G>A (p.Glu1199Lys) c.3985G>A (p.Glu1329Lys) c.3892G>A (p.Glu1298Lys) c.3367G>A (p.Glu1123Lys) c.3682G>A (p.Glu1228Lys) n.8254G>A | |
3 | g.9475633G>C | CA351691851 | SETD5 | n.2826G>C c.3967G>C (p.Glu1323Gln) n.4860G>C n.2251G>C n.6668G>C n.6113G>C c.3871G>C (p.Glu1291Gln) c.*4017G>C (n.*4017G>C) c.*3940G>C (n.*3940G>C) c.*4245G>C (n.*4245G>C) c.*3976G>C (n.*3976G>C) c.3577G>C (p.Glu1193Gln) c.2722+477G>C c.3928G>C (p.Glu1310Gln) c.2907G>C n.1002G>C n.3212G>C n.258G>C n.4035G>C c.4045G>C (p.Glu1349Gln) c.4024G>C (p.Glu1342Gln) c.4006G>C (p.Glu1336Gln) c.3988G>C (p.Glu1330Gln) c.3949G>C (p.Glu1317Gln) c.3910G>C (p.Glu1304Gln) c.3634G>C (p.Glu1212Gln) c.3595G>C (p.Glu1199Gln) c.3985G>C (p.Glu1329Gln) c.3892G>C (p.Glu1298Gln) c.3367G>C (p.Glu1123Gln) c.3682G>C (p.Glu1228Gln) n.8254G>C | dbSNP |
3 | g.9475633G= | CA1344742550 | SETD5 | n.2826G= c.3967G= (p.Glu1323=) n.4860G= n.2251G= n.6668G= n.6113G= c.3871G= (p.Glu1291=) c.*4017G= (n.*4017G=) c.*3940G= (n.*3940G=) c.*4245G= (n.*4245G=) c.*3976G= (n.*3976G=) c.3577G= (p.Glu1193=) c.2722+477G= c.3928G= (p.Glu1310=) c.2907G= n.1002G= n.3212G= n.258G= n.4035G= c.4045G= (p.Glu1349=) c.4024G= (p.Glu1342=) c.4006G= (p.Glu1336=) c.3988G= (p.Glu1330=) c.3949G= (p.Glu1317=) c.3910G= (p.Glu1304=) c.3634G= (p.Glu1212=) c.3595G= (p.Glu1199=) c.3985G= (p.Glu1329=) c.3892G= (p.Glu1298=) c.3367G= (p.Glu1123=) c.3682G= (p.Glu1228=) n.8254G= | |
3 | g.9475633G>T | CA351691853 | SETD5 | n.2826G>T c.3967G>T (p.Glu1323Ter) n.4860G>T n.2251G>T n.6668G>T n.6113G>T c.3871G>T (p.Glu1291Ter) c.*4017G>T (n.*4017G>T) c.*3940G>T (n.*3940G>T) c.*4245G>T (n.*4245G>T) c.*3976G>T (n.*3976G>T) c.3577G>T (p.Glu1193Ter) c.2722+477G>T c.3928G>T (p.Glu1310Ter) c.2907G>T n.1002G>T n.3212G>T n.258G>T n.4035G>T c.4045G>T (p.Glu1349Ter) c.4024G>T (p.Glu1342Ter) c.4006G>T (p.Glu1336Ter) c.3988G>T (p.Glu1330Ter) c.3949G>T (p.Glu1317Ter) c.3910G>T (p.Glu1304Ter) c.3634G>T (p.Glu1212Ter) c.3595G>T (p.Glu1199Ter) c.3985G>T (p.Glu1329Ter) c.3892G>T (p.Glu1298Ter) c.3367G>T (p.Glu1123Ter) c.3682G>T (p.Glu1228Ter) n.8254G>T | |
3 | g.9475634A>C | CA351691860 | SETD5 | n.2827A>C c.3968A>C (p.Glu1323Ala) n.4861A>C n.2252A>C n.6669A>C n.6114A>C c.3872A>C (p.Glu1291Ala) c.*4018A>C (n.*4018A>C) c.*3941A>C (n.*3941A>C) c.*4246A>C (n.*4246A>C) c.*3977A>C (n.*3977A>C) c.3578A>C (p.Glu1193Ala) c.2722+478A>C c.3929A>C (p.Glu1310Ala) c.2908A>C n.1003A>C n.3213A>C n.259A>C n.4036A>C c.4046A>C (p.Glu1349Ala) c.4025A>C (p.Glu1342Ala) c.4007A>C (p.Glu1336Ala) c.3989A>C (p.Glu1330Ala) c.3950A>C (p.Glu1317Ala) c.3911A>C (p.Glu1304Ala) c.3635A>C (p.Glu1212Ala) c.3596A>C (p.Glu1199Ala) c.3986A>C (p.Glu1329Ala) c.3893A>C (p.Glu1298Ala) c.3368A>C (p.Glu1123Ala) c.3683A>C (p.Glu1228Ala) n.8255A>C | gnomAD v4 |
3 | g.9475634A>G | CA351691861 | SETD5 | n.2827A>G c.3968A>G (p.Glu1323Gly) n.4861A>G n.2252A>G n.6669A>G n.6114A>G c.3872A>G (p.Glu1291Gly) c.*4018A>G (n.*4018A>G) c.*3941A>G (n.*3941A>G) c.*4246A>G (n.*4246A>G) c.*3977A>G (n.*3977A>G) c.3578A>G (p.Glu1193Gly) c.2722+478A>G c.3929A>G (p.Glu1310Gly) c.2908A>G n.1003A>G n.3213A>G n.259A>G n.4036A>G c.4046A>G (p.Glu1349Gly) c.4025A>G (p.Glu1342Gly) c.4007A>G (p.Glu1336Gly) c.3989A>G (p.Glu1330Gly) c.3950A>G (p.Glu1317Gly) c.3911A>G (p.Glu1304Gly) c.3635A>G (p.Glu1212Gly) c.3596A>G (p.Glu1199Gly) c.3986A>G (p.Glu1329Gly) c.3893A>G (p.Glu1298Gly) c.3368A>G (p.Glu1123Gly) c.3683A>G (p.Glu1228Gly) n.8255A>G | |
3 | g.9475634A>T | CA351691862 | SETD5 | n.2827A>T c.3968A>T (p.Glu1323Val) n.4861A>T n.2252A>T n.6669A>T n.6114A>T c.3872A>T (p.Glu1291Val) c.*4018A>T (n.*4018A>T) c.*3941A>T (n.*3941A>T) c.*4246A>T (n.*4246A>T) c.*3977A>T (n.*3977A>T) c.3578A>T (p.Glu1193Val) c.2722+478A>T c.3929A>T (p.Glu1310Val) c.2908A>T n.1003A>T n.3213A>T n.259A>T n.4036A>T c.4046A>T (p.Glu1349Val) c.4025A>T (p.Glu1342Val) c.4007A>T (p.Glu1336Val) c.3989A>T (p.Glu1330Val) c.3950A>T (p.Glu1317Val) c.3911A>T (p.Glu1304Val) c.3635A>T (p.Glu1212Val) c.3596A>T (p.Glu1199Val) c.3986A>T (p.Glu1329Val) c.3893A>T (p.Glu1298Val) c.3368A>T (p.Glu1123Val) c.3683A>T (p.Glu1228Val) n.8255A>T | |
3 | g.9475635A>C | CA351691867 | SETD5 | n.2828A>C c.3969A>C (p.Glu1323Asp) n.4862A>C n.2253A>C n.6670A>C n.6115A>C c.3873A>C (p.Glu1291Asp) c.*4019A>C (n.*4019A>C) c.*3942A>C (n.*3942A>C) c.*4247A>C (n.*4247A>C) c.*3978A>C (n.*3978A>C) c.3579A>C (p.Glu1193Asp) c.2722+479A>C c.3930A>C (p.Glu1310Asp) c.2909A>C n.1004A>C n.3214A>C n.260A>C n.4037A>C c.4047A>C (p.Glu1349Asp) c.4026A>C (p.Glu1342Asp) c.4008A>C (p.Glu1336Asp) c.3990A>C (p.Glu1330Asp) c.3951A>C (p.Glu1317Asp) c.3912A>C (p.Glu1304Asp) c.3636A>C (p.Glu1212Asp) c.3597A>C (p.Glu1199Asp) c.3987A>C (p.Glu1329Asp) c.3894A>C (p.Glu1298Asp) c.3369A>C (p.Glu1123Asp) c.3684A>C (p.Glu1228Asp) n.8256A>C | |
3 | g.9475635A>G | CA432528721 | SETD5 | n.2828A>G c.3969A>G (p.Glu1323=) n.4862A>G n.2253A>G n.6670A>G n.6115A>G c.3873A>G (p.Glu1291=) c.*4019A>G (n.*4019A>G) c.*3942A>G (n.*3942A>G) c.*4247A>G (n.*4247A>G) c.*3978A>G (n.*3978A>G) c.3579A>G (p.Glu1193=) c.2722+479A>G c.3930A>G (p.Glu1310=) c.2909A>G n.1004A>G n.3214A>G n.260A>G n.4037A>G c.4047A>G (p.Glu1349=) c.4026A>G (p.Glu1342=) c.4008A>G (p.Glu1336=) c.3990A>G (p.Glu1330=) c.3951A>G (p.Glu1317=) c.3912A>G (p.Glu1304=) c.3636A>G (p.Glu1212=) c.3597A>G (p.Glu1199=) c.3987A>G (p.Glu1329=) c.3894A>G (p.Glu1298=) c.3369A>G (p.Glu1123=) c.3684A>G (p.Glu1228=) n.8256A>G | |
3 | g.9475635A>T | CA351691873 | SETD5 | n.2828A>T c.3969A>T (p.Glu1323Asp) n.4862A>T n.2253A>T n.6670A>T n.6115A>T c.3873A>T (p.Glu1291Asp) c.*4019A>T (n.*4019A>T) c.*3942A>T (n.*3942A>T) c.*4247A>T (n.*4247A>T) c.*3978A>T (n.*3978A>T) c.3579A>T (p.Glu1193Asp) c.2722+479A>T c.3930A>T (p.Glu1310Asp) c.2909A>T n.1004A>T n.3214A>T n.260A>T n.4037A>T c.4047A>T (p.Glu1349Asp) c.4026A>T (p.Glu1342Asp) c.4008A>T (p.Glu1336Asp) c.3990A>T (p.Glu1330Asp) c.3951A>T (p.Glu1317Asp) c.3912A>T (p.Glu1304Asp) c.3636A>T (p.Glu1212Asp) c.3597A>T (p.Glu1199Asp) c.3987A>T (p.Glu1329Asp) c.3894A>T (p.Glu1298Asp) c.3369A>T (p.Glu1123Asp) c.3684A>T (p.Glu1228Asp) n.8256A>T | |
3 | g.9475636T>A | CA351691877 | SETD5 | n.2829T>A c.3970T>A (p.Ser1324Thr) n.4863T>A n.2254T>A n.6671T>A n.6116T>A c.3874T>A (p.Ser1292Thr) c.*4020T>A (n.*4020T>A) c.*3943T>A (n.*3943T>A) c.*4248T>A (n.*4248T>A) c.*3979T>A (n.*3979T>A) c.3580T>A (p.Ser1194Thr) c.2722+480T>A c.3931T>A (p.Ser1311Thr) c.2910T>A n.1005T>A n.3215T>A n.261T>A n.4038T>A c.4048T>A (p.Ser1350Thr) c.4027T>A (p.Ser1343Thr) c.4009T>A (p.Ser1337Thr) c.3991T>A (p.Ser1331Thr) c.3952T>A (p.Ser1318Thr) c.3913T>A (p.Ser1305Thr) c.3637T>A (p.Ser1213Thr) c.3598T>A (p.Ser1200Thr) c.3988T>A (p.Ser1330Thr) c.3895T>A (p.Ser1299Thr) c.3370T>A (p.Ser1124Thr) c.3685T>A (p.Ser1229Thr) n.8257T>A | |
3 | g.9475636T>C | CA351691878 | SETD5 | n.2829T>C c.3970T>C (p.Ser1324Pro) n.4863T>C n.2254T>C n.6671T>C n.6116T>C c.3874T>C (p.Ser1292Pro) c.*4020T>C (n.*4020T>C) c.*3943T>C (n.*3943T>C) c.*4248T>C (n.*4248T>C) c.*3979T>C (n.*3979T>C) c.3580T>C (p.Ser1194Pro) c.2722+480T>C c.3931T>C (p.Ser1311Pro) c.2910T>C n.1005T>C n.3215T>C n.261T>C n.4038T>C c.4048T>C (p.Ser1350Pro) c.4027T>C (p.Ser1343Pro) c.4009T>C (p.Ser1337Pro) c.3991T>C (p.Ser1331Pro) c.3952T>C (p.Ser1318Pro) c.3913T>C (p.Ser1305Pro) c.3637T>C (p.Ser1213Pro) c.3598T>C (p.Ser1200Pro) c.3988T>C (p.Ser1330Pro) c.3895T>C (p.Ser1299Pro) c.3370T>C (p.Ser1124Pro) c.3685T>C (p.Ser1229Pro) n.8257T>C | |
3 | g.9475636T>G | CA351691880 | SETD5 | n.2829T>G c.3970T>G (p.Ser1324Ala) n.4863T>G n.2254T>G n.6671T>G n.6116T>G c.3874T>G (p.Ser1292Ala) c.*4020T>G (n.*4020T>G) c.*3943T>G (n.*3943T>G) c.*4248T>G (n.*4248T>G) c.*3979T>G (n.*3979T>G) c.3580T>G (p.Ser1194Ala) c.2722+480T>G c.3931T>G (p.Ser1311Ala) c.2910T>G n.1005T>G n.3215T>G n.261T>G n.4038T>G c.4048T>G (p.Ser1350Ala) c.4027T>G (p.Ser1343Ala) c.4009T>G (p.Ser1337Ala) c.3991T>G (p.Ser1331Ala) c.3952T>G (p.Ser1318Ala) c.3913T>G (p.Ser1305Ala) c.3637T>G (p.Ser1213Ala) c.3598T>G (p.Ser1200Ala) c.3988T>G (p.Ser1330Ala) c.3895T>G (p.Ser1299Ala) c.3370T>G (p.Ser1124Ala) c.3685T>G (p.Ser1229Ala) n.8257T>G | |
3 | g.9475637C>A | CA351691922 | SETD5 | n.2830C>A c.3971C>A (p.Ser1324Ter) n.4864C>A n.2255C>A n.6672C>A n.6117C>A c.3875C>A (p.Ser1292Ter) c.*4021C>A (n.*4021C>A) c.*3944C>A (n.*3944C>A) c.*4249C>A (n.*4249C>A) c.*3980C>A (n.*3980C>A) c.3581C>A (p.Ser1194Ter) c.2722+481C>A c.3932C>A (p.Ser1311Ter) c.2911C>A n.1006C>A n.3216C>A n.262C>A n.4039C>A c.4049C>A (p.Ser1350Ter) c.4028C>A (p.Ser1343Ter) c.4010C>A (p.Ser1337Ter) c.3992C>A (p.Ser1331Ter) c.3953C>A (p.Ser1318Ter) c.3914C>A (p.Ser1305Ter) c.3638C>A (p.Ser1213Ter) c.3599C>A (p.Ser1200Ter) c.3989C>A (p.Ser1330Ter) c.3896C>A (p.Ser1299Ter) c.3371C>A (p.Ser1124Ter) c.3686C>A (p.Ser1229Ter) n.8258C>A | |
3 | g.9475637C>G | CA351691921 | SETD5 | n.2830C>G c.3971C>G (p.Ser1324Ter) n.4864C>G n.2255C>G n.6672C>G n.6117C>G c.3875C>G (p.Ser1292Ter) c.*4021C>G (n.*4021C>G) c.*3944C>G (n.*3944C>G) c.*4249C>G (n.*4249C>G) c.*3980C>G (n.*3980C>G) c.3581C>G (p.Ser1194Ter) c.2722+481C>G c.3932C>G (p.Ser1311Ter) c.2911C>G n.1006C>G n.3216C>G n.262C>G n.4039C>G c.4049C>G (p.Ser1350Ter) c.4028C>G (p.Ser1343Ter) c.4010C>G (p.Ser1337Ter) c.3992C>G (p.Ser1331Ter) c.3953C>G (p.Ser1318Ter) c.3914C>G (p.Ser1305Ter) c.3638C>G (p.Ser1213Ter) c.3599C>G (p.Ser1200Ter) c.3989C>G (p.Ser1330Ter) c.3896C>G (p.Ser1299Ter) c.3371C>G (p.Ser1124Ter) c.3686C>G (p.Ser1229Ter) n.8258C>G | |
3 | g.9475637C>T | CA351691917 | SETD5 | n.2830C>T c.3971C>T (p.Ser1324Leu) n.4864C>T n.2255C>T n.6672C>T n.6117C>T c.3875C>T (p.Ser1292Leu) c.*4021C>T (n.*4021C>T) c.*3944C>T (n.*3944C>T) c.*4249C>T (n.*4249C>T) c.*3980C>T (n.*3980C>T) c.3581C>T (p.Ser1194Leu) c.2722+481C>T c.3932C>T (p.Ser1311Leu) c.2911C>T n.1006C>T n.3216C>T n.262C>T n.4039C>T c.4049C>T (p.Ser1350Leu) c.4028C>T (p.Ser1343Leu) c.4010C>T (p.Ser1337Leu) c.3992C>T (p.Ser1331Leu) c.3953C>T (p.Ser1318Leu) c.3914C>T (p.Ser1305Leu) c.3638C>T (p.Ser1213Leu) c.3599C>T (p.Ser1200Leu) c.3989C>T (p.Ser1330Leu) c.3896C>T (p.Ser1299Leu) c.3371C>T (p.Ser1124Leu) c.3686C>T (p.Ser1229Leu) n.8258C>T | |
3 | g.9475638A= | CA1344742555 | SETD5 | n.2831A= c.3972A= (p.Ser1324=) n.4865A= n.2256A= n.6673A= n.6118A= c.3876A= (p.Ser1292=) c.*4022A= (n.*4022A=) c.*3945A= (n.*3945A=) c.*4250A= (n.*4250A=) c.*3981A= (n.*3981A=) c.3582A= (p.Ser1194=) c.2722+482A= c.3933A= (p.Ser1311=) c.2912A= n.1007A= n.3217A= n.263A= n.4040A= c.4050A= (p.Ser1350=) c.4029A= (p.Ser1343=) c.4011A= (p.Ser1337=) c.3993A= (p.Ser1331=) c.3954A= (p.Ser1318=) c.3915A= (p.Ser1305=) c.3639A= (p.Ser1213=) c.3600A= (p.Ser1200=) c.3990A= (p.Ser1330=) c.3897A= (p.Ser1299=) c.3372A= (p.Ser1124=) c.3687A= (p.Ser1229=) n.8259A= | |
3 | g.9475638A>C | CA432528734 | SETD5 | n.2831A>C c.3972A>C (p.Ser1324=) n.4865A>C n.2256A>C n.6673A>C n.6118A>C c.3876A>C (p.Ser1292=) c.*4022A>C (n.*4022A>C) c.*3945A>C (n.*3945A>C) c.*4250A>C (n.*4250A>C) c.*3981A>C (n.*3981A>C) c.3582A>C (p.Ser1194=) c.2722+482A>C c.3933A>C (p.Ser1311=) c.2912A>C n.1007A>C n.3217A>C n.263A>C n.4040A>C c.4050A>C (p.Ser1350=) c.4029A>C (p.Ser1343=) c.4011A>C (p.Ser1337=) c.3993A>C (p.Ser1331=) c.3954A>C (p.Ser1318=) c.3915A>C (p.Ser1305=) c.3639A>C (p.Ser1213=) c.3600A>C (p.Ser1200=) c.3990A>C (p.Ser1330=) c.3897A>C (p.Ser1299=) c.3372A>C (p.Ser1124=) c.3687A>C (p.Ser1229=) n.8259A>C | |
3 | g.9475638A>G | CA432528735 | SETD5 | n.2831A>G c.3972A>G (p.Ser1324=) n.4865A>G n.2256A>G n.6673A>G n.6118A>G c.3876A>G (p.Ser1292=) c.*4022A>G (n.*4022A>G) c.*3945A>G (n.*3945A>G) c.*4250A>G (n.*4250A>G) c.*3981A>G (n.*3981A>G) c.3582A>G (p.Ser1194=) c.2722+482A>G c.3933A>G (p.Ser1311=) c.2912A>G n.1007A>G n.3217A>G n.263A>G n.4040A>G c.4050A>G (p.Ser1350=) c.4029A>G (p.Ser1343=) c.4011A>G (p.Ser1337=) c.3993A>G (p.Ser1331=) c.3954A>G (p.Ser1318=) c.3915A>G (p.Ser1305=) c.3639A>G (p.Ser1213=) c.3600A>G (p.Ser1200=) c.3990A>G (p.Ser1330=) c.3897A>G (p.Ser1299=) c.3372A>G (p.Ser1124=) c.3687A>G (p.Ser1229=) n.8259A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.9475638A>T | CA432528738 | SETD5 | n.2831A>T c.3972A>T (p.Ser1324=) n.4865A>T n.2256A>T n.6673A>T n.6118A>T c.3876A>T (p.Ser1292=) c.*4022A>T (n.*4022A>T) c.*3945A>T (n.*3945A>T) c.*4250A>T (n.*4250A>T) c.*3981A>T (n.*3981A>T) c.3582A>T (p.Ser1194=) c.2722+482A>T c.3933A>T (p.Ser1311=) c.2912A>T n.1007A>T n.3217A>T n.263A>T n.4040A>T c.4050A>T (p.Ser1350=) c.4029A>T (p.Ser1343=) c.4011A>T (p.Ser1337=) c.3993A>T (p.Ser1331=) c.3954A>T (p.Ser1318=) c.3915A>T (p.Ser1305=) c.3639A>T (p.Ser1213=) c.3600A>T (p.Ser1200=) c.3990A>T (p.Ser1330=) c.3897A>T (p.Ser1299=) c.3372A>T (p.Ser1124=) c.3687A>T (p.Ser1229=) n.8259A>T | |
3 | g.9475639T>A | CA351691924 | SETD5 | n.2832T>A c.3973T>A (p.Ser1325Thr) n.4866T>A n.2257T>A n.6674T>A n.6119T>A c.3877T>A (p.Ser1293Thr) c.*4023T>A (n.*4023T>A) c.*3946T>A (n.*3946T>A) c.*4251T>A (n.*4251T>A) c.*3982T>A (n.*3982T>A) c.3583T>A (p.Ser1195Thr) c.2722+483T>A c.3934T>A (p.Ser1312Thr) c.2913T>A n.1008T>A n.3218T>A n.264T>A n.4041T>A c.4051T>A (p.Ser1351Thr) c.4030T>A (p.Ser1344Thr) c.4012T>A (p.Ser1338Thr) c.3994T>A (p.Ser1332Thr) c.3955T>A (p.Ser1319Thr) c.3916T>A (p.Ser1306Thr) c.3640T>A (p.Ser1214Thr) c.3601T>A (p.Ser1201Thr) c.3991T>A (p.Ser1331Thr) c.3898T>A (p.Ser1300Thr) c.3373T>A (p.Ser1125Thr) c.3688T>A (p.Ser1230Thr) n.8260T>A | |
3 | g.9475639T>C | CA351691927 | SETD5 | n.2832T>C c.3973T>C (p.Ser1325Pro) n.4866T>C n.2257T>C n.6674T>C n.6119T>C c.3877T>C (p.Ser1293Pro) c.*4023T>C (n.*4023T>C) c.*3946T>C (n.*3946T>C) c.*4251T>C (n.*4251T>C) c.*3982T>C (n.*3982T>C) c.3583T>C (p.Ser1195Pro) c.2722+483T>C c.3934T>C (p.Ser1312Pro) c.2913T>C n.1008T>C n.3218T>C n.264T>C n.4041T>C c.4051T>C (p.Ser1351Pro) c.4030T>C (p.Ser1344Pro) c.4012T>C (p.Ser1338Pro) c.3994T>C (p.Ser1332Pro) c.3955T>C (p.Ser1319Pro) c.3916T>C (p.Ser1306Pro) c.3640T>C (p.Ser1214Pro) c.3601T>C (p.Ser1201Pro) c.3991T>C (p.Ser1331Pro) c.3898T>C (p.Ser1300Pro) c.3373T>C (p.Ser1125Pro) c.3688T>C (p.Ser1230Pro) n.8260T>C | |
3 | g.9475639T>G | CA351691932 | SETD5 | n.2832T>G c.3973T>G (p.Ser1325Ala) n.4866T>G n.2257T>G n.6674T>G n.6119T>G c.3877T>G (p.Ser1293Ala) c.*4023T>G (n.*4023T>G) c.*3946T>G (n.*3946T>G) c.*4251T>G (n.*4251T>G) c.*3982T>G (n.*3982T>G) c.3583T>G (p.Ser1195Ala) c.2722+483T>G c.3934T>G (p.Ser1312Ala) c.2913T>G n.1008T>G n.3218T>G n.264T>G n.4041T>G c.4051T>G (p.Ser1351Ala) c.4030T>G (p.Ser1344Ala) c.4012T>G (p.Ser1338Ala) c.3994T>G (p.Ser1332Ala) c.3955T>G (p.Ser1319Ala) c.3916T>G (p.Ser1306Ala) c.3640T>G (p.Ser1214Ala) c.3601T>G (p.Ser1201Ala) c.3991T>G (p.Ser1331Ala) c.3898T>G (p.Ser1300Ala) c.3373T>G (p.Ser1125Ala) c.3688T>G (p.Ser1230Ala) n.8260T>G | |
3 | g.9475640C>A | CA351691937 | SETD5 | n.2833C>A c.3974C>A (p.Ser1325Tyr) n.4867C>A n.2258C>A n.6675C>A n.6120C>A c.3878C>A (p.Ser1293Tyr) c.*4024C>A (n.*4024C>A) c.*3947C>A (n.*3947C>A) c.*4252C>A (n.*4252C>A) c.*3983C>A (n.*3983C>A) c.3584C>A (p.Ser1195Tyr) c.2722+484C>A c.3935C>A (p.Ser1312Tyr) c.2914C>A n.1009C>A n.3219C>A n.265C>A n.4042C>A c.4052C>A (p.Ser1351Tyr) c.4031C>A (p.Ser1344Tyr) c.4013C>A (p.Ser1338Tyr) c.3995C>A (p.Ser1332Tyr) c.3956C>A (p.Ser1319Tyr) c.3917C>A (p.Ser1306Tyr) c.3641C>A (p.Ser1214Tyr) c.3602C>A (p.Ser1201Tyr) c.3992C>A (p.Ser1331Tyr) c.3899C>A (p.Ser1300Tyr) c.3374C>A (p.Ser1125Tyr) c.3689C>A (p.Ser1230Tyr) n.8261C>A | |
3 | g.9475640C>G | CA351691939 | SETD5 | n.2833C>G c.3974C>G (p.Ser1325Cys) n.4867C>G n.2258C>G n.6675C>G n.6120C>G c.3878C>G (p.Ser1293Cys) c.*4024C>G (n.*4024C>G) c.*3947C>G (n.*3947C>G) c.*4252C>G (n.*4252C>G) c.*3983C>G (n.*3983C>G) c.3584C>G (p.Ser1195Cys) c.2722+484C>G c.3935C>G (p.Ser1312Cys) c.2914C>G n.1009C>G n.3219C>G n.265C>G n.4042C>G c.4052C>G (p.Ser1351Cys) c.4031C>G (p.Ser1344Cys) c.4013C>G (p.Ser1338Cys) c.3995C>G (p.Ser1332Cys) c.3956C>G (p.Ser1319Cys) c.3917C>G (p.Ser1306Cys) c.3641C>G (p.Ser1214Cys) c.3602C>G (p.Ser1201Cys) c.3992C>G (p.Ser1331Cys) c.3899C>G (p.Ser1300Cys) c.3374C>G (p.Ser1125Cys) c.3689C>G (p.Ser1230Cys) n.8261C>G | |
3 | g.9475640C>T | CA351691943 | SETD5 | n.2833C>T c.3974C>T (p.Ser1325Phe) n.4867C>T n.2258C>T n.6675C>T n.6120C>T c.3878C>T (p.Ser1293Phe) c.*4024C>T (n.*4024C>T) c.*3947C>T (n.*3947C>T) c.*4252C>T (n.*4252C>T) c.*3983C>T (n.*3983C>T) c.3584C>T (p.Ser1195Phe) c.2722+484C>T c.3935C>T (p.Ser1312Phe) c.2914C>T n.1009C>T n.3219C>T n.265C>T n.4042C>T c.4052C>T (p.Ser1351Phe) c.4031C>T (p.Ser1344Phe) c.4013C>T (p.Ser1338Phe) c.3995C>T (p.Ser1332Phe) c.3956C>T (p.Ser1319Phe) c.3917C>T (p.Ser1306Phe) c.3641C>T (p.Ser1214Phe) c.3602C>T (p.Ser1201Phe) c.3992C>T (p.Ser1331Phe) c.3899C>T (p.Ser1300Phe) c.3374C>T (p.Ser1125Phe) c.3689C>T (p.Ser1230Phe) n.8261C>T | gnomAD v4 |
3 | g.9475641C>A | CA432528747 | SETD5 | n.2834C>A c.3975C>A (p.Ser1325=) n.4868C>A n.2259C>A n.6676C>A n.6121C>A c.3879C>A (p.Ser1293=) c.*4025C>A (n.*4025C>A) c.*3948C>A (n.*3948C>A) c.*4253C>A (n.*4253C>A) c.*3984C>A (n.*3984C>A) c.3585C>A (p.Ser1195=) c.2722+485C>A c.3936C>A (p.Ser1312=) c.2915C>A n.1010C>A n.3220C>A n.266C>A n.4043C>A c.4053C>A (p.Ser1351=) c.4032C>A (p.Ser1344=) c.4014C>A (p.Ser1338=) c.3996C>A (p.Ser1332=) c.3957C>A (p.Ser1319=) c.3918C>A (p.Ser1306=) c.3642C>A (p.Ser1214=) c.3603C>A (p.Ser1201=) c.3993C>A (p.Ser1331=) c.3900C>A (p.Ser1300=) c.3375C>A (p.Ser1125=) c.3690C>A (p.Ser1230=) n.8262C>A | |
3 | g.9475641C>G | CA432528750 | SETD5 | n.2834C>G c.3975C>G (p.Ser1325=) n.4868C>G n.2259C>G n.6676C>G n.6121C>G c.3879C>G (p.Ser1293=) c.*4025C>G (n.*4025C>G) c.*3948C>G (n.*3948C>G) c.*4253C>G (n.*4253C>G) c.*3984C>G (n.*3984C>G) c.3585C>G (p.Ser1195=) c.2722+485C>G c.3936C>G (p.Ser1312=) c.2915C>G n.1010C>G n.3220C>G n.266C>G n.4043C>G c.4053C>G (p.Ser1351=) c.4032C>G (p.Ser1344=) c.4014C>G (p.Ser1338=) c.3996C>G (p.Ser1332=) c.3957C>G (p.Ser1319=) c.3918C>G (p.Ser1306=) c.3642C>G (p.Ser1214=) c.3603C>G (p.Ser1201=) c.3993C>G (p.Ser1331=) c.3900C>G (p.Ser1300=) c.3375C>G (p.Ser1125=) c.3690C>G (p.Ser1230=) n.8262C>G | |
3 | g.9475641C>T | CA432528751 | SETD5 | n.2834C>T c.3975C>T (p.Ser1325=) n.4868C>T n.2259C>T n.6676C>T n.6121C>T c.3879C>T (p.Ser1293=) c.*4025C>T (n.*4025C>T) c.*3948C>T (n.*3948C>T) c.*4253C>T (n.*4253C>T) c.*3984C>T (n.*3984C>T) c.3585C>T (p.Ser1195=) c.2722+485C>T c.3936C>T (p.Ser1312=) c.2915C>T n.1010C>T n.3220C>T n.266C>T n.4043C>T c.4053C>T (p.Ser1351=) c.4032C>T (p.Ser1344=) c.4014C>T (p.Ser1338=) c.3996C>T (p.Ser1332=) c.3957C>T (p.Ser1319=) c.3918C>T (p.Ser1306=) c.3642C>T (p.Ser1214=) c.3603C>T (p.Ser1201=) c.3993C>T (p.Ser1331=) c.3900C>T (p.Ser1300=) c.3375C>T (p.Ser1125=) c.3690C>T (p.Ser1230=) n.8262C>T | gnomAD v4 |
3 | g.9475642C>A | CA351691969 | SETD5 | n.2835C>A c.3976C>A (p.Leu1326Ile) n.4869C>A n.2260C>A n.6677C>A n.6122C>A c.3880C>A (p.Leu1294Ile) c.*4026C>A (n.*4026C>A) c.*3949C>A (n.*3949C>A) c.*4254C>A (n.*4254C>A) c.*3985C>A (n.*3985C>A) c.3586C>A (p.Leu1196Ile) c.2722+486C>A c.3937C>A (p.Leu1313Ile) c.2916C>A n.1011C>A n.3221C>A n.267C>A n.4044C>A c.4054C>A (p.Leu1352Ile) c.4033C>A (p.Leu1345Ile) c.4015C>A (p.Leu1339Ile) c.3997C>A (p.Leu1333Ile) c.3958C>A (p.Leu1320Ile) c.3919C>A (p.Leu1307Ile) c.3643C>A (p.Leu1215Ile) c.3604C>A (p.Leu1202Ile) c.3994C>A (p.Leu1332Ile) c.3901C>A (p.Leu1301Ile) c.3376C>A (p.Leu1126Ile) c.3691C>A (p.Leu1231Ile) n.8263C>A | |
3 | g.9475642C= | CA1344742559 | SETD5 | n.2835C= c.3976C= (p.Leu1326=) n.4869C= n.2260C= n.6677C= n.6122C= c.3880C= (p.Leu1294=) c.*4026C= (n.*4026C=) c.*3949C= (n.*3949C=) c.*4254C= (n.*4254C=) c.*3985C= (n.*3985C=) c.3586C= (p.Leu1196=) c.2722+486C= c.3937C= (p.Leu1313=) c.2916C= n.1011C= n.3221C= n.267C= n.4044C= c.4054C= (p.Leu1352=) c.4033C= (p.Leu1345=) c.4015C= (p.Leu1339=) c.3997C= (p.Leu1333=) c.3958C= (p.Leu1320=) c.3919C= (p.Leu1307=) c.3643C= (p.Leu1215=) c.3604C= (p.Leu1202=) c.3994C= (p.Leu1332=) c.3901C= (p.Leu1301=) c.3376C= (p.Leu1126=) c.3691C= (p.Leu1231=) n.8263C= | |
3 | g.9475642C>G | CA351691952 | SETD5 | n.2835C>G c.3976C>G (p.Leu1326Val) n.4869C>G n.2260C>G n.6677C>G n.6122C>G c.3880C>G (p.Leu1294Val) c.*4026C>G (n.*4026C>G) c.*3949C>G (n.*3949C>G) c.*4254C>G (n.*4254C>G) c.*3985C>G (n.*3985C>G) c.3586C>G (p.Leu1196Val) c.2722+486C>G c.3937C>G (p.Leu1313Val) c.2916C>G n.1011C>G n.3221C>G n.267C>G n.4044C>G c.4054C>G (p.Leu1352Val) c.4033C>G (p.Leu1345Val) c.4015C>G (p.Leu1339Val) c.3997C>G (p.Leu1333Val) c.3958C>G (p.Leu1320Val) c.3919C>G (p.Leu1307Val) c.3643C>G (p.Leu1215Val) c.3604C>G (p.Leu1202Val) c.3994C>G (p.Leu1332Val) c.3901C>G (p.Leu1301Val) c.3376C>G (p.Leu1126Val) c.3691C>G (p.Leu1231Val) n.8263C>G | ClinVar dbSNP |
3 | g.9475642C>T | CA351691947 | SETD5 | n.2835C>T c.3976C>T (p.Leu1326Phe) n.4869C>T n.2260C>T n.6677C>T n.6122C>T c.3880C>T (p.Leu1294Phe) c.*4026C>T (n.*4026C>T) c.*3949C>T (n.*3949C>T) c.*4254C>T (n.*4254C>T) c.*3985C>T (n.*3985C>T) c.3586C>T (p.Leu1196Phe) c.2722+486C>T c.3937C>T (p.Leu1313Phe) c.2916C>T n.1011C>T n.3221C>T n.267C>T n.4044C>T c.4054C>T (p.Leu1352Phe) c.4033C>T (p.Leu1345Phe) c.4015C>T (p.Leu1339Phe) c.3997C>T (p.Leu1333Phe) c.3958C>T (p.Leu1320Phe) c.3919C>T (p.Leu1307Phe) c.3643C>T (p.Leu1215Phe) c.3604C>T (p.Leu1202Phe) c.3994C>T (p.Leu1332Phe) c.3901C>T (p.Leu1301Phe) c.3376C>T (p.Leu1126Phe) c.3691C>T (p.Leu1231Phe) n.8263C>T | |
3 | g.9475643T>A | CA351691977 | SETD5 | n.2836T>A c.3977T>A (p.Leu1326His) n.4870T>A n.2261T>A n.6678T>A n.6123T>A c.3881T>A (p.Leu1294His) c.*4027T>A (n.*4027T>A) c.*3950T>A (n.*3950T>A) c.*4255T>A (n.*4255T>A) c.*3986T>A (n.*3986T>A) c.3587T>A (p.Leu1196His) c.2722+487T>A c.3938T>A (p.Leu1313His) c.2917T>A n.1012T>A n.3222T>A n.268T>A n.4045T>A c.4055T>A (p.Leu1352His) c.4034T>A (p.Leu1345His) c.4016T>A (p.Leu1339His) c.3998T>A (p.Leu1333His) c.3959T>A (p.Leu1320His) c.3920T>A (p.Leu1307His) c.3644T>A (p.Leu1215His) c.3605T>A (p.Leu1202His) c.3995T>A (p.Leu1332His) c.3902T>A (p.Leu1301His) c.3377T>A (p.Leu1126His) c.3692T>A (p.Leu1231His) n.8264T>A | |
3 | g.9475643T>C | CA351691980 | SETD5 | n.2836T>C c.3977T>C (p.Leu1326Pro) n.4870T>C n.2261T>C n.6678T>C n.6123T>C c.3881T>C (p.Leu1294Pro) c.*4027T>C (n.*4027T>C) c.*3950T>C (n.*3950T>C) c.*4255T>C (n.*4255T>C) c.*3986T>C (n.*3986T>C) c.3587T>C (p.Leu1196Pro) c.2722+487T>C c.3938T>C (p.Leu1313Pro) c.2917T>C n.1012T>C n.3222T>C n.268T>C n.4045T>C c.4055T>C (p.Leu1352Pro) c.4034T>C (p.Leu1345Pro) c.4016T>C (p.Leu1339Pro) c.3998T>C (p.Leu1333Pro) c.3959T>C (p.Leu1320Pro) c.3920T>C (p.Leu1307Pro) c.3644T>C (p.Leu1215Pro) c.3605T>C (p.Leu1202Pro) c.3995T>C (p.Leu1332Pro) c.3902T>C (p.Leu1301Pro) c.3377T>C (p.Leu1126Pro) c.3692T>C (p.Leu1231Pro) n.8264T>C | |
3 | g.9475643T>G | CA351691983 | SETD5 | n.2836T>G c.3977T>G (p.Leu1326Arg) n.4870T>G n.2261T>G n.6678T>G n.6123T>G c.3881T>G (p.Leu1294Arg) c.*4027T>G (n.*4027T>G) c.*3950T>G (n.*3950T>G) c.*4255T>G (n.*4255T>G) c.*3986T>G (n.*3986T>G) c.3587T>G (p.Leu1196Arg) c.2722+487T>G c.3938T>G (p.Leu1313Arg) c.2917T>G n.1012T>G n.3222T>G n.268T>G n.4045T>G c.4055T>G (p.Leu1352Arg) c.4034T>G (p.Leu1345Arg) c.4016T>G (p.Leu1339Arg) c.3998T>G (p.Leu1333Arg) c.3959T>G (p.Leu1320Arg) c.3920T>G (p.Leu1307Arg) c.3644T>G (p.Leu1215Arg) c.3605T>G (p.Leu1202Arg) c.3995T>G (p.Leu1332Arg) c.3902T>G (p.Leu1301Arg) c.3377T>G (p.Leu1126Arg) c.3692T>G (p.Leu1231Arg) n.8264T>G | |
3 | g.9475644C>A | CA432528755 | SETD5 | n.2837C>A c.3978C>A (p.Leu1326=) n.4871C>A n.2262C>A n.6679C>A n.6124C>A c.3882C>A (p.Leu1294=) c.*4028C>A (n.*4028C>A) c.*3951C>A (n.*3951C>A) c.*4256C>A (n.*4256C>A) c.*3987C>A (n.*3987C>A) c.3588C>A (p.Leu1196=) c.2722+488C>A c.3939C>A (p.Leu1313=) c.2918C>A n.1013C>A n.3223C>A n.269C>A n.4046C>A c.4056C>A (p.Leu1352=) c.4035C>A (p.Leu1345=) c.4017C>A (p.Leu1339=) c.3999C>A (p.Leu1333=) c.3960C>A (p.Leu1320=) c.3921C>A (p.Leu1307=) c.3645C>A (p.Leu1215=) c.3606C>A (p.Leu1202=) c.3996C>A (p.Leu1332=) c.3903C>A (p.Leu1301=) c.3378C>A (p.Leu1126=) c.3693C>A (p.Leu1231=) n.8265C>A | |
3 | g.9475644C= | CA1344742564 | SETD5 | n.2837C= c.3978C= (p.Leu1326=) n.4871C= n.2262C= n.6679C= n.6124C= c.3882C= (p.Leu1294=) c.*4028C= (n.*4028C=) c.*3951C= (n.*3951C=) c.*4256C= (n.*4256C=) c.*3987C= (n.*3987C=) c.3588C= (p.Leu1196=) c.2722+488C= c.3939C= (p.Leu1313=) c.2918C= n.1013C= n.3223C= n.269C= n.4046C= c.4056C= (p.Leu1352=) c.4035C= (p.Leu1345=) c.4017C= (p.Leu1339=) c.3999C= (p.Leu1333=) c.3960C= (p.Leu1320=) c.3921C= (p.Leu1307=) c.3645C= (p.Leu1215=) c.3606C= (p.Leu1202=) c.3996C= (p.Leu1332=) c.3903C= (p.Leu1301=) c.3378C= (p.Leu1126=) c.3693C= (p.Leu1231=) n.8265C= | |
3 | g.9475644C>G | CA69951951 | SETD5 | n.2837C>G c.3978C>G (p.Leu1326=) n.4871C>G n.2262C>G n.6679C>G n.6124C>G c.3882C>G (p.Leu1294=) c.*4028C>G (n.*4028C>G) c.*3951C>G (n.*3951C>G) c.*4256C>G (n.*4256C>G) c.*3987C>G (n.*3987C>G) c.3588C>G (p.Leu1196=) c.2722+488C>G c.3939C>G (p.Leu1313=) c.2918C>G n.1013C>G n.3223C>G n.269C>G n.4046C>G c.4056C>G (p.Leu1352=) c.4035C>G (p.Leu1345=) c.4017C>G (p.Leu1339=) c.3999C>G (p.Leu1333=) c.3960C>G (p.Leu1320=) c.3921C>G (p.Leu1307=) c.3645C>G (p.Leu1215=) c.3606C>G (p.Leu1202=) c.3996C>G (p.Leu1332=) c.3903C>G (p.Leu1301=) c.3378C>G (p.Leu1126=) c.3693C>G (p.Leu1231=) n.8265C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
3 | g.9475644C>T | CA432528756 | SETD5 | n.2837C>T c.3978C>T (p.Leu1326=) n.4871C>T n.2262C>T n.6679C>T n.6124C>T c.3882C>T (p.Leu1294=) c.*4028C>T (n.*4028C>T) c.*3951C>T (n.*3951C>T) c.*4256C>T (n.*4256C>T) c.*3987C>T (n.*3987C>T) c.3588C>T (p.Leu1196=) c.2722+488C>T c.3939C>T (p.Leu1313=) c.2918C>T n.1013C>T n.3223C>T n.269C>T n.4046C>T c.4056C>T (p.Leu1352=) c.4035C>T (p.Leu1345=) c.4017C>T (p.Leu1339=) c.3999C>T (p.Leu1333=) c.3960C>T (p.Leu1320=) c.3921C>T (p.Leu1307=) c.3645C>T (p.Leu1215=) c.3606C>T (p.Leu1202=) c.3996C>T (p.Leu1332=) c.3903C>T (p.Leu1301=) c.3378C>T (p.Leu1126=) c.3693C>T (p.Leu1231=) n.8265C>T | |
3 | g.9475645T>A | CA351691985 | SETD5 | n.2838T>A c.3979T>A (p.Ser1327Thr) n.4872T>A n.2263T>A n.6680T>A n.6125T>A c.3883T>A (p.Ser1295Thr) c.*4029T>A (n.*4029T>A) c.*3952T>A (n.*3952T>A) c.*4257T>A (n.*4257T>A) c.*3988T>A (n.*3988T>A) c.3589T>A (p.Ser1197Thr) c.2722+489T>A c.3940T>A (p.Ser1314Thr) c.2919T>A n.1014T>A n.3224T>A n.270T>A n.4047T>A c.4057T>A (p.Ser1353Thr) c.4036T>A (p.Ser1346Thr) c.4018T>A (p.Ser1340Thr) c.4000T>A (p.Ser1334Thr) c.3961T>A (p.Ser1321Thr) c.3922T>A (p.Ser1308Thr) c.3646T>A (p.Ser1216Thr) c.3607T>A (p.Ser1203Thr) c.3997T>A (p.Ser1333Thr) c.3904T>A (p.Ser1302Thr) c.3379T>A (p.Ser1127Thr) c.3694T>A (p.Ser1232Thr) n.8266T>A | |
3 | g.9475645T>C | CA351691990 | SETD5 | n.2838T>C c.3979T>C (p.Ser1327Pro) n.4872T>C n.2263T>C n.6680T>C n.6125T>C c.3883T>C (p.Ser1295Pro) c.*4029T>C (n.*4029T>C) c.*3952T>C (n.*3952T>C) c.*4257T>C (n.*4257T>C) c.*3988T>C (n.*3988T>C) c.3589T>C (p.Ser1197Pro) c.2722+489T>C c.3940T>C (p.Ser1314Pro) c.2919T>C n.1014T>C n.3224T>C n.270T>C n.4047T>C c.4057T>C (p.Ser1353Pro) c.4036T>C (p.Ser1346Pro) c.4018T>C (p.Ser1340Pro) c.4000T>C (p.Ser1334Pro) c.3961T>C (p.Ser1321Pro) c.3922T>C (p.Ser1308Pro) c.3646T>C (p.Ser1216Pro) c.3607T>C (p.Ser1203Pro) c.3997T>C (p.Ser1333Pro) c.3904T>C (p.Ser1302Pro) c.3379T>C (p.Ser1127Pro) c.3694T>C (p.Ser1232Pro) n.8266T>C | |
3 | g.9475645T>G | CA351691993 | SETD5 | n.2838T>G c.3979T>G (p.Ser1327Ala) n.4872T>G n.2263T>G n.6680T>G n.6125T>G c.3883T>G (p.Ser1295Ala) c.*4029T>G (n.*4029T>G) c.*3952T>G (n.*3952T>G) c.*4257T>G (n.*4257T>G) c.*3988T>G (n.*3988T>G) c.3589T>G (p.Ser1197Ala) c.2722+489T>G c.3940T>G (p.Ser1314Ala) c.2919T>G n.1014T>G n.3224T>G n.270T>G n.4047T>G c.4057T>G (p.Ser1353Ala) c.4036T>G (p.Ser1346Ala) c.4018T>G (p.Ser1340Ala) c.4000T>G (p.Ser1334Ala) c.3961T>G (p.Ser1321Ala) c.3922T>G (p.Ser1308Ala) c.3646T>G (p.Ser1216Ala) c.3607T>G (p.Ser1203Ala) c.3997T>G (p.Ser1333Ala) c.3904T>G (p.Ser1302Ala) c.3379T>G (p.Ser1127Ala) c.3694T>G (p.Ser1232Ala) n.8266T>G | |
3 | g.9475646C>A | CA351692001 | SETD5 | n.2839C>A c.3980C>A (p.Ser1327Tyr) n.4873C>A n.2264C>A n.6681C>A n.6126C>A c.3884C>A (p.Ser1295Tyr) c.*4030C>A (n.*4030C>A) c.*3953C>A (n.*3953C>A) c.*4258C>A (n.*4258C>A) c.*3989C>A (n.*3989C>A) c.3590C>A (p.Ser1197Tyr) c.2722+490C>A c.3941C>A (p.Ser1314Tyr) c.2920C>A n.1015C>A n.3225C>A n.271C>A n.4048C>A c.4058C>A (p.Ser1353Tyr) c.4037C>A (p.Ser1346Tyr) c.4019C>A (p.Ser1340Tyr) c.4001C>A (p.Ser1334Tyr) c.3962C>A (p.Ser1321Tyr) c.3923C>A (p.Ser1308Tyr) c.3647C>A (p.Ser1216Tyr) c.3608C>A (p.Ser1203Tyr) c.3998C>A (p.Ser1333Tyr) c.3905C>A (p.Ser1302Tyr) c.3380C>A (p.Ser1127Tyr) c.3695C>A (p.Ser1232Tyr) n.8267C>A | |
3 | g.9475646C>G | CA351692011 | SETD5 | n.2839C>G c.3980C>G (p.Ser1327Cys) n.4873C>G n.2264C>G n.6681C>G n.6126C>G c.3884C>G (p.Ser1295Cys) c.*4030C>G (n.*4030C>G) c.*3953C>G (n.*3953C>G) c.*4258C>G (n.*4258C>G) c.*3989C>G (n.*3989C>G) c.3590C>G (p.Ser1197Cys) c.2722+490C>G c.3941C>G (p.Ser1314Cys) c.2920C>G n.1015C>G n.3225C>G n.271C>G n.4048C>G c.4058C>G (p.Ser1353Cys) c.4037C>G (p.Ser1346Cys) c.4019C>G (p.Ser1340Cys) c.4001C>G (p.Ser1334Cys) c.3962C>G (p.Ser1321Cys) c.3923C>G (p.Ser1308Cys) c.3647C>G (p.Ser1216Cys) c.3608C>G (p.Ser1203Cys) c.3998C>G (p.Ser1333Cys) c.3905C>G (p.Ser1302Cys) c.3380C>G (p.Ser1127Cys) c.3695C>G (p.Ser1232Cys) n.8267C>G | |
3 | g.9475646C>T | CA351692007 | SETD5 | n.2839C>T c.3980C>T (p.Ser1327Phe) n.4873C>T n.2264C>T n.6681C>T n.6126C>T c.3884C>T (p.Ser1295Phe) c.*4030C>T (n.*4030C>T) c.*3953C>T (n.*3953C>T) c.*4258C>T (n.*4258C>T) c.*3989C>T (n.*3989C>T) c.3590C>T (p.Ser1197Phe) c.2722+490C>T c.3941C>T (p.Ser1314Phe) c.2920C>T n.1015C>T n.3225C>T n.271C>T n.4048C>T c.4058C>T (p.Ser1353Phe) c.4037C>T (p.Ser1346Phe) c.4019C>T (p.Ser1340Phe) c.4001C>T (p.Ser1334Phe) c.3962C>T (p.Ser1321Phe) c.3923C>T (p.Ser1308Phe) c.3647C>T (p.Ser1216Phe) c.3608C>T (p.Ser1203Phe) c.3998C>T (p.Ser1333Phe) c.3905C>T (p.Ser1302Phe) c.3380C>T (p.Ser1127Phe) c.3695C>T (p.Ser1232Phe) n.8267C>T | ClinVar dbSNP |
3 | g.9475647T>A | CA432528765 | SETD5 | n.2840T>A c.3981T>A (p.Ser1327=) n.4874T>A n.2265T>A n.6682T>A n.6127T>A c.3885T>A (p.Ser1295=) c.*4031T>A (n.*4031T>A) c.*3954T>A (n.*3954T>A) c.*4259T>A (n.*4259T>A) c.*3990T>A (n.*3990T>A) c.3591T>A (p.Ser1197=) c.2722+491T>A c.3942T>A (p.Ser1314=) c.2921T>A n.1016T>A n.3226T>A n.272T>A n.4049T>A c.4059T>A (p.Ser1353=) c.4038T>A (p.Ser1346=) c.4020T>A (p.Ser1340=) c.4002T>A (p.Ser1334=) c.3963T>A (p.Ser1321=) c.3924T>A (p.Ser1308=) c.3648T>A (p.Ser1216=) c.3609T>A (p.Ser1203=) c.3999T>A (p.Ser1333=) c.3906T>A (p.Ser1302=) c.3381T>A (p.Ser1127=) c.3696T>A (p.Ser1232=) n.8268T>A | |
3 | g.9475647T>C | CA432528766 | SETD5 | n.2840T>C c.3981T>C (p.Ser1327=) n.4874T>C n.2265T>C n.6682T>C n.6127T>C c.3885T>C (p.Ser1295=) c.*4031T>C (n.*4031T>C) c.*3954T>C (n.*3954T>C) c.*4259T>C (n.*4259T>C) c.*3990T>C (n.*3990T>C) c.3591T>C (p.Ser1197=) c.2722+491T>C c.3942T>C (p.Ser1314=) c.2921T>C n.1016T>C n.3226T>C n.272T>C n.4049T>C c.4059T>C (p.Ser1353=) c.4038T>C (p.Ser1346=) c.4020T>C (p.Ser1340=) c.4002T>C (p.Ser1334=) c.3963T>C (p.Ser1321=) c.3924T>C (p.Ser1308=) c.3648T>C (p.Ser1216=) c.3609T>C (p.Ser1203=) c.3999T>C (p.Ser1333=) c.3906T>C (p.Ser1302=) c.3381T>C (p.Ser1127=) c.3696T>C (p.Ser1232=) n.8268T>C | |
3 | g.9475647T>G | CA432528767 | SETD5 | n.2840T>G c.3981T>G (p.Ser1327=) n.4874T>G n.2265T>G n.6682T>G n.6127T>G c.3885T>G (p.Ser1295=) c.*4031T>G (n.*4031T>G) c.*3954T>G (n.*3954T>G) c.*4259T>G (n.*4259T>G) c.*3990T>G (n.*3990T>G) c.3591T>G (p.Ser1197=) c.2722+491T>G c.3942T>G (p.Ser1314=) c.2921T>G n.1016T>G n.3226T>G n.272T>G n.4049T>G c.4059T>G (p.Ser1353=) c.4038T>G (p.Ser1346=) c.4020T>G (p.Ser1340=) c.4002T>G (p.Ser1334=) c.3963T>G (p.Ser1321=) c.3924T>G (p.Ser1308=) c.3648T>G (p.Ser1216=) c.3609T>G (p.Ser1203=) c.3999T>G (p.Ser1333=) c.3906T>G (p.Ser1302=) c.3381T>G (p.Ser1127=) c.3696T>G (p.Ser1232=) n.8268T>G | |
3 | g.9475648T>A | CA351692014 | SETD5 | n.2841T>A c.3982T>A (p.Ser1328Thr) n.4875T>A n.2266T>A n.6683T>A n.6128T>A c.3886T>A (p.Ser1296Thr) c.*4032T>A (n.*4032T>A) c.*3955T>A (n.*3955T>A) c.*4260T>A (n.*4260T>A) c.*3991T>A (n.*3991T>A) c.3592T>A (p.Ser1198Thr) c.2722+492T>A c.3943T>A (p.Ser1315Thr) c.2922T>A n.1017T>A n.3227T>A n.273T>A n.4050T>A c.4060T>A (p.Ser1354Thr) c.4039T>A (p.Ser1347Thr) c.4021T>A (p.Ser1341Thr) c.4003T>A (p.Ser1335Thr) c.3964T>A (p.Ser1322Thr) c.3925T>A (p.Ser1309Thr) c.3649T>A (p.Ser1217Thr) c.3610T>A (p.Ser1204Thr) c.4000T>A (p.Ser1334Thr) c.3907T>A (p.Ser1303Thr) c.3382T>A (p.Ser1128Thr) c.3697T>A (p.Ser1233Thr) n.8269T>A | |
3 | g.9475648T>C | CA351692016 | SETD5 | n.2841T>C c.3982T>C (p.Ser1328Pro) n.4875T>C n.2266T>C n.6683T>C n.6128T>C c.3886T>C (p.Ser1296Pro) c.*4032T>C (n.*4032T>C) c.*3955T>C (n.*3955T>C) c.*4260T>C (n.*4260T>C) c.*3991T>C (n.*3991T>C) c.3592T>C (p.Ser1198Pro) c.2722+492T>C c.3943T>C (p.Ser1315Pro) c.2922T>C n.1017T>C n.3227T>C n.273T>C n.4050T>C c.4060T>C (p.Ser1354Pro) c.4039T>C (p.Ser1347Pro) c.4021T>C (p.Ser1341Pro) c.4003T>C (p.Ser1335Pro) c.3964T>C (p.Ser1322Pro) c.3925T>C (p.Ser1309Pro) c.3649T>C (p.Ser1217Pro) c.3610T>C (p.Ser1204Pro) c.4000T>C (p.Ser1334Pro) c.3907T>C (p.Ser1303Pro) c.3382T>C (p.Ser1128Pro) c.3697T>C (p.Ser1233Pro) n.8269T>C | gnomAD v4 |
3 | g.9475648T>G | CA351692019 | SETD5 | n.2841T>G c.3982T>G (p.Ser1328Ala) n.4875T>G n.2266T>G n.6683T>G n.6128T>G c.3886T>G (p.Ser1296Ala) c.*4032T>G (n.*4032T>G) c.*3955T>G (n.*3955T>G) c.*4260T>G (n.*4260T>G) c.*3991T>G (n.*3991T>G) c.3592T>G (p.Ser1198Ala) c.2722+492T>G c.3943T>G (p.Ser1315Ala) c.2922T>G n.1017T>G n.3227T>G n.273T>G n.4050T>G c.4060T>G (p.Ser1354Ala) c.4039T>G (p.Ser1347Ala) c.4021T>G (p.Ser1341Ala) c.4003T>G (p.Ser1335Ala) c.3964T>G (p.Ser1322Ala) c.3925T>G (p.Ser1309Ala) c.3649T>G (p.Ser1217Ala) c.3610T>G (p.Ser1204Ala) c.4000T>G (p.Ser1334Ala) c.3907T>G (p.Ser1303Ala) c.3382T>G (p.Ser1128Ala) c.3697T>G (p.Ser1233Ala) n.8269T>G | |
3 | g.9475649C>A | CA351692023 | SETD5 | n.2842C>A c.3983C>A (p.Ser1328Tyr) n.4876C>A n.2267C>A n.6684C>A n.6129C>A c.3887C>A (p.Ser1296Tyr) c.*4033C>A (n.*4033C>A) c.*3956C>A (n.*3956C>A) c.*4261C>A (n.*4261C>A) c.*3992C>A (n.*3992C>A) c.3593C>A (p.Ser1198Tyr) c.2722+493C>A c.3944C>A (p.Ser1315Tyr) c.2923C>A n.1018C>A n.3228C>A n.274C>A n.4051C>A c.4061C>A (p.Ser1354Tyr) c.4040C>A (p.Ser1347Tyr) c.4022C>A (p.Ser1341Tyr) c.4004C>A (p.Ser1335Tyr) c.3965C>A (p.Ser1322Tyr) c.3926C>A (p.Ser1309Tyr) c.3650C>A (p.Ser1217Tyr) c.3611C>A (p.Ser1204Tyr) c.4001C>A (p.Ser1334Tyr) c.3908C>A (p.Ser1303Tyr) c.3383C>A (p.Ser1128Tyr) c.3698C>A (p.Ser1233Tyr) n.8270C>A | |
3 | g.9475649C>G | CA351692027 | SETD5 | n.2842C>G c.3983C>G (p.Ser1328Cys) n.4876C>G n.2267C>G n.6684C>G n.6129C>G c.3887C>G (p.Ser1296Cys) c.*4033C>G (n.*4033C>G) c.*3956C>G (n.*3956C>G) c.*4261C>G (n.*4261C>G) c.*3992C>G (n.*3992C>G) c.3593C>G (p.Ser1198Cys) c.2722+493C>G c.3944C>G (p.Ser1315Cys) c.2923C>G n.1018C>G n.3228C>G n.274C>G n.4051C>G c.4061C>G (p.Ser1354Cys) c.4040C>G (p.Ser1347Cys) c.4022C>G (p.Ser1341Cys) c.4004C>G (p.Ser1335Cys) c.3965C>G (p.Ser1322Cys) c.3926C>G (p.Ser1309Cys) c.3650C>G (p.Ser1217Cys) c.3611C>G (p.Ser1204Cys) c.4001C>G (p.Ser1334Cys) c.3908C>G (p.Ser1303Cys) c.3383C>G (p.Ser1128Cys) c.3698C>G (p.Ser1233Cys) n.8270C>G | |
3 | g.9475649C>T | CA351692029 | SETD5 | n.2842C>T c.3983C>T (p.Ser1328Phe) n.4876C>T n.2267C>T n.6684C>T n.6129C>T c.3887C>T (p.Ser1296Phe) c.*4033C>T (n.*4033C>T) c.*3956C>T (n.*3956C>T) c.*4261C>T (n.*4261C>T) c.*3992C>T (n.*3992C>T) c.3593C>T (p.Ser1198Phe) c.2722+493C>T c.3944C>T (p.Ser1315Phe) c.2923C>T n.1018C>T n.3228C>T n.274C>T n.4051C>T c.4061C>T (p.Ser1354Phe) c.4040C>T (p.Ser1347Phe) c.4022C>T (p.Ser1341Phe) c.4004C>T (p.Ser1335Phe) c.3965C>T (p.Ser1322Phe) c.3926C>T (p.Ser1309Phe) c.3650C>T (p.Ser1217Phe) c.3611C>T (p.Ser1204Phe) c.4001C>T (p.Ser1334Phe) c.3908C>T (p.Ser1303Phe) c.3383C>T (p.Ser1128Phe) c.3698C>T (p.Ser1233Phe) n.8270C>T | |
3 | g.9475650C>A | CA432528775 | SETD5 | n.2843C>A c.3984C>A (p.Ser1328=) n.4877C>A n.2268C>A n.6685C>A n.6130C>A c.3888C>A (p.Ser1296=) c.*4034C>A (n.*4034C>A) c.*3957C>A (n.*3957C>A) c.*4262C>A (n.*4262C>A) c.*3993C>A (n.*3993C>A) c.3594C>A (p.Ser1198=) c.2722+494C>A c.3945C>A (p.Ser1315=) c.2924C>A n.1019C>A n.3229C>A n.275C>A n.4052C>A c.4062C>A (p.Ser1354=) c.4041C>A (p.Ser1347=) c.4023C>A (p.Ser1341=) c.4005C>A (p.Ser1335=) c.3966C>A (p.Ser1322=) c.3927C>A (p.Ser1309=) c.3651C>A (p.Ser1217=) c.3612C>A (p.Ser1204=) c.4002C>A (p.Ser1334=) c.3909C>A (p.Ser1303=) c.3384C>A (p.Ser1128=) c.3699C>A (p.Ser1233=) n.8271C>A | |
3 | g.9475650C= | CA1344742566 | SETD5 | n.2843C= c.3984C= (p.Ser1328=) n.4877C= n.2268C= n.6685C= n.6130C= c.3888C= (p.Ser1296=) c.*4034C= (n.*4034C=) c.*3957C= (n.*3957C=) c.*4262C= (n.*4262C=) c.*3993C= (n.*3993C=) c.3594C= (p.Ser1198=) c.2722+494C= c.3945C= (p.Ser1315=) c.2924C= n.1019C= n.3229C= n.275C= n.4052C= c.4062C= (p.Ser1354=) c.4041C= (p.Ser1347=) c.4023C= (p.Ser1341=) c.4005C= (p.Ser1335=) c.3966C= (p.Ser1322=) c.3927C= (p.Ser1309=) c.3651C= (p.Ser1217=) c.3612C= (p.Ser1204=) c.4002C= (p.Ser1334=) c.3909C= (p.Ser1303=) c.3384C= (p.Ser1128=) c.3699C= (p.Ser1233=) n.8271C= | |
3 | g.9475650C>G | CA432528776 | SETD5 | n.2843C>G c.3984C>G (p.Ser1328=) n.4877C>G n.2268C>G n.6685C>G n.6130C>G c.3888C>G (p.Ser1296=) c.*4034C>G (n.*4034C>G) c.*3957C>G (n.*3957C>G) c.*4262C>G (n.*4262C>G) c.*3993C>G (n.*3993C>G) c.3594C>G (p.Ser1198=) c.2722+494C>G c.3945C>G (p.Ser1315=) c.2924C>G n.1019C>G n.3229C>G n.275C>G n.4052C>G c.4062C>G (p.Ser1354=) c.4041C>G (p.Ser1347=) c.4023C>G (p.Ser1341=) c.4005C>G (p.Ser1335=) c.3966C>G (p.Ser1322=) c.3927C>G (p.Ser1309=) c.3651C>G (p.Ser1217=) c.3612C>G (p.Ser1204=) c.4002C>G (p.Ser1334=) c.3909C>G (p.Ser1303=) c.3384C>G (p.Ser1128=) c.3699C>G (p.Ser1233=) n.8271C>G | |
3 | g.9475650C>T | CA432528777 | SETD5 | n.2843C>T c.3984C>T (p.Ser1328=) n.4877C>T n.2268C>T n.6685C>T n.6130C>T c.3888C>T (p.Ser1296=) c.*4034C>T (n.*4034C>T) c.*3957C>T (n.*3957C>T) c.*4262C>T (n.*4262C>T) c.*3993C>T (n.*3993C>T) c.3594C>T (p.Ser1198=) c.2722+494C>T c.3945C>T (p.Ser1315=) c.2924C>T n.1019C>T n.3229C>T n.275C>T n.4052C>T c.4062C>T (p.Ser1354=) c.4041C>T (p.Ser1347=) c.4023C>T (p.Ser1341=) c.4005C>T (p.Ser1335=) c.3966C>T (p.Ser1322=) c.3927C>T (p.Ser1309=) c.3651C>T (p.Ser1217=) c.3612C>T (p.Ser1204=) c.4002C>T (p.Ser1334=) c.3909C>T (p.Ser1303=) c.3384C>T (p.Ser1128=) c.3699C>T (p.Ser1233=) n.8271C>T | dbSNP gnomAD v4 |
3 | g.9475651A>C | CA351692031 | SETD5 | n.2844A>C c.3985A>C (p.Thr1329Pro) n.4878A>C n.2269A>C n.6686A>C n.6131A>C c.3889A>C (p.Thr1297Pro) c.*4035A>C (n.*4035A>C) c.*3958A>C (n.*3958A>C) c.*4263A>C (n.*4263A>C) c.*3994A>C (n.*3994A>C) c.3595A>C (p.Thr1199Pro) c.2722+495A>C c.3946A>C (p.Thr1316Pro) c.2925A>C n.1020A>C n.3230A>C n.276A>C n.4053A>C c.4063A>C (p.Thr1355Pro) c.4042A>C (p.Thr1348Pro) c.4024A>C (p.Thr1342Pro) c.4006A>C (p.Thr1336Pro) c.3967A>C (p.Thr1323Pro) c.3928A>C (p.Thr1310Pro) c.3652A>C (p.Thr1218Pro) c.3613A>C (p.Thr1205Pro) c.4003A>C (p.Thr1335Pro) c.3910A>C (p.Thr1304Pro) c.3385A>C (p.Thr1129Pro) c.3700A>C (p.Thr1234Pro) n.8272A>C | |
3 | g.9475651A>G | CA351692034 | SETD5 | n.2844A>G c.3985A>G (p.Thr1329Ala) n.4878A>G n.2269A>G n.6686A>G n.6131A>G c.3889A>G (p.Thr1297Ala) c.*4035A>G (n.*4035A>G) c.*3958A>G (n.*3958A>G) c.*4263A>G (n.*4263A>G) c.*3994A>G (n.*3994A>G) c.3595A>G (p.Thr1199Ala) c.2722+495A>G c.3946A>G (p.Thr1316Ala) c.2925A>G n.1020A>G n.3230A>G n.276A>G n.4053A>G c.4063A>G (p.Thr1355Ala) c.4042A>G (p.Thr1348Ala) c.4024A>G (p.Thr1342Ala) c.4006A>G (p.Thr1336Ala) c.3967A>G (p.Thr1323Ala) c.3928A>G (p.Thr1310Ala) c.3652A>G (p.Thr1218Ala) c.3613A>G (p.Thr1205Ala) c.4003A>G (p.Thr1335Ala) c.3910A>G (p.Thr1304Ala) c.3385A>G (p.Thr1129Ala) c.3700A>G (p.Thr1234Ala) n.8272A>G | gnomAD v4 |
3 | g.9475651A>T | CA351692037 | SETD5 | n.2844A>T c.3985A>T (p.Thr1329Ser) n.4878A>T n.2269A>T n.6686A>T n.6131A>T c.3889A>T (p.Thr1297Ser) c.*4035A>T (n.*4035A>T) c.*3958A>T (n.*3958A>T) c.*4263A>T (n.*4263A>T) c.*3994A>T (n.*3994A>T) c.3595A>T (p.Thr1199Ser) c.2722+495A>T c.3946A>T (p.Thr1316Ser) c.2925A>T n.1020A>T n.3230A>T n.276A>T n.4053A>T c.4063A>T (p.Thr1355Ser) c.4042A>T (p.Thr1348Ser) c.4024A>T (p.Thr1342Ser) c.4006A>T (p.Thr1336Ser) c.3967A>T (p.Thr1323Ser) c.3928A>T (p.Thr1310Ser) c.3652A>T (p.Thr1218Ser) c.3613A>T (p.Thr1205Ser) c.4003A>T (p.Thr1335Ser) c.3910A>T (p.Thr1304Ser) c.3385A>T (p.Thr1129Ser) c.3700A>T (p.Thr1234Ser) n.8272A>T | |
3 | g.9475652C>A | CA351692059 | SETD5 | n.2845C>A c.3986C>A (p.Thr1329Lys) n.4879C>A n.2270C>A n.6687C>A n.6132C>A c.3890C>A (p.Thr1297Lys) c.*4036C>A (n.*4036C>A) c.*3959C>A (n.*3959C>A) c.*4264C>A (n.*4264C>A) c.*3995C>A (n.*3995C>A) c.3596C>A (p.Thr1199Lys) c.2722+496C>A c.3947C>A (p.Thr1316Lys) c.2926C>A n.1021C>A n.3231C>A n.277C>A n.4054C>A c.4064C>A (p.Thr1355Lys) c.4043C>A (p.Thr1348Lys) c.4025C>A (p.Thr1342Lys) c.4007C>A (p.Thr1336Lys) c.3968C>A (p.Thr1323Lys) c.3929C>A (p.Thr1310Lys) c.3653C>A (p.Thr1218Lys) c.3614C>A (p.Thr1205Lys) c.4004C>A (p.Thr1335Lys) c.3911C>A (p.Thr1304Lys) c.3386C>A (p.Thr1129Lys) c.3701C>A (p.Thr1234Lys) n.8273C>A | |
3 | g.9475652C= | CA1344742570 | SETD5 | n.2845C= c.3986C= (p.Thr1329=) n.4879C= n.2270C= n.6687C= n.6132C= c.3890C= (p.Thr1297=) c.*4036C= (n.*4036C=) c.*3959C= (n.*3959C=) c.*4264C= (n.*4264C=) c.*3995C= (n.*3995C=) c.3596C= (p.Thr1199=) c.2722+496C= c.3947C= (p.Thr1316=) c.2926C= n.1021C= n.3231C= n.277C= n.4054C= c.4064C= (p.Thr1355=) c.4043C= (p.Thr1348=) c.4025C= (p.Thr1342=) c.4007C= (p.Thr1336=) c.3968C= (p.Thr1323=) c.3929C= (p.Thr1310=) c.3653C= (p.Thr1218=) c.3614C= (p.Thr1205=) c.4004C= (p.Thr1335=) c.3911C= (p.Thr1304=) c.3386C= (p.Thr1129=) c.3701C= (p.Thr1234=) n.8273C= | |
3 | g.9475652C>G | CA351692063 | SETD5 | n.2845C>G c.3986C>G (p.Thr1329Arg) n.4879C>G n.2270C>G n.6687C>G n.6132C>G c.3890C>G (p.Thr1297Arg) c.*4036C>G (n.*4036C>G) c.*3959C>G (n.*3959C>G) c.*4264C>G (n.*4264C>G) c.*3995C>G (n.*3995C>G) c.3596C>G (p.Thr1199Arg) c.2722+496C>G c.3947C>G (p.Thr1316Arg) c.2926C>G n.1021C>G n.3231C>G n.277C>G n.4054C>G c.4064C>G (p.Thr1355Arg) c.4043C>G (p.Thr1348Arg) c.4025C>G (p.Thr1342Arg) c.4007C>G (p.Thr1336Arg) c.3968C>G (p.Thr1323Arg) c.3929C>G (p.Thr1310Arg) c.3653C>G (p.Thr1218Arg) c.3614C>G (p.Thr1205Arg) c.4004C>G (p.Thr1335Arg) c.3911C>G (p.Thr1304Arg) c.3386C>G (p.Thr1129Arg) c.3701C>G (p.Thr1234Arg) n.8273C>G | |
3 | g.9475652C>T | CA2239822 | SETD5 | n.2845C>T c.3986C>T (p.Thr1329Met) n.4879C>T n.2270C>T n.6687C>T n.6132C>T c.3890C>T (p.Thr1297Met) c.*4036C>T (n.*4036C>T) c.*3959C>T (n.*3959C>T) c.*4264C>T (n.*4264C>T) c.*3995C>T (n.*3995C>T) c.3596C>T (p.Thr1199Met) c.2722+496C>T c.3947C>T (p.Thr1316Met) c.2926C>T n.1021C>T n.3231C>T n.277C>T n.4054C>T c.4064C>T (p.Thr1355Met) c.4043C>T (p.Thr1348Met) c.4025C>T (p.Thr1342Met) c.4007C>T (p.Thr1336Met) c.3968C>T (p.Thr1323Met) c.3929C>T (p.Thr1310Met) c.3653C>T (p.Thr1218Met) c.3614C>T (p.Thr1205Met) c.4004C>T (p.Thr1335Met) c.3911C>T (p.Thr1304Met) c.3386C>T (p.Thr1129Met) c.3701C>T (p.Thr1234Met) n.8273C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.9475653G>A | CA2239823 | SETD5 | n.2846G>A c.3987G>A (p.Thr1329=) n.4880G>A n.2271G>A n.6688G>A n.6133G>A c.3891G>A (p.Thr1297=) c.*4037G>A (n.*4037G>A) c.*3960G>A (n.*3960G>A) c.*4265G>A (n.*4265G>A) c.*3996G>A (n.*3996G>A) c.3597G>A (p.Thr1199=) c.2722+497G>A c.3948G>A (p.Thr1316=) c.2927G>A n.1022G>A n.3232G>A n.278G>A n.4055G>A c.4065G>A (p.Thr1355=) c.4044G>A (p.Thr1348=) c.4026G>A (p.Thr1342=) c.4008G>A (p.Thr1336=) c.3969G>A (p.Thr1323=) c.3930G>A (p.Thr1310=) c.3654G>A (p.Thr1218=) c.3615G>A (p.Thr1205=) c.4005G>A (p.Thr1335=) c.3912G>A (p.Thr1304=) c.3387G>A (p.Thr1129=) c.3702G>A (p.Thr1234=) n.8274G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475653G>C | CA432528793 | SETD5 | n.2846G>C c.3987G>C (p.Thr1329=) n.4880G>C n.2271G>C n.6688G>C n.6133G>C c.3891G>C (p.Thr1297=) c.*4037G>C (n.*4037G>C) c.*3960G>C (n.*3960G>C) c.*4265G>C (n.*4265G>C) c.*3996G>C (n.*3996G>C) c.3597G>C (p.Thr1199=) c.2722+497G>C c.3948G>C (p.Thr1316=) c.2927G>C n.1022G>C n.3232G>C n.278G>C n.4055G>C c.4065G>C (p.Thr1355=) c.4044G>C (p.Thr1348=) c.4026G>C (p.Thr1342=) c.4008G>C (p.Thr1336=) c.3969G>C (p.Thr1323=) c.3930G>C (p.Thr1310=) c.3654G>C (p.Thr1218=) c.3615G>C (p.Thr1205=) c.4005G>C (p.Thr1335=) c.3912G>C (p.Thr1304=) c.3387G>C (p.Thr1129=) c.3702G>C (p.Thr1234=) n.8274G>C | gnomAD v4 |
3 | g.9475653G= | CA1344742576 | SETD5 | n.2846G= c.3987G= (p.Thr1329=) n.4880G= n.2271G= n.6688G= n.6133G= c.3891G= (p.Thr1297=) c.*4037G= (n.*4037G=) c.*3960G= (n.*3960G=) c.*4265G= (n.*4265G=) c.*3996G= (n.*3996G=) c.3597G= (p.Thr1199=) c.2722+497G= c.3948G= (p.Thr1316=) c.2927G= n.1022G= n.3232G= n.278G= n.4055G= c.4065G= (p.Thr1355=) c.4044G= (p.Thr1348=) c.4026G= (p.Thr1342=) c.4008G= (p.Thr1336=) c.3969G= (p.Thr1323=) c.3930G= (p.Thr1310=) c.3654G= (p.Thr1218=) c.3615G= (p.Thr1205=) c.4005G= (p.Thr1335=) c.3912G= (p.Thr1304=) c.3387G= (p.Thr1129=) c.3702G= (p.Thr1234=) n.8274G= | |
3 | g.9475653G>T | CA432528792 | SETD5 | n.2846G>T c.3987G>T (p.Thr1329=) n.4880G>T n.2271G>T n.6688G>T n.6133G>T c.3891G>T (p.Thr1297=) c.*4037G>T (n.*4037G>T) c.*3960G>T (n.*3960G>T) c.*4265G>T (n.*4265G>T) c.*3996G>T (n.*3996G>T) c.3597G>T (p.Thr1199=) c.2722+497G>T c.3948G>T (p.Thr1316=) c.2927G>T n.1022G>T n.3232G>T n.278G>T n.4055G>T c.4065G>T (p.Thr1355=) c.4044G>T (p.Thr1348=) c.4026G>T (p.Thr1342=) c.4008G>T (p.Thr1336=) c.3969G>T (p.Thr1323=) c.3930G>T (p.Thr1310=) c.3654G>T (p.Thr1218=) c.3615G>T (p.Thr1205=) c.4005G>T (p.Thr1335=) c.3912G>T (p.Thr1304=) c.3387G>T (p.Thr1129=) c.3702G>T (p.Thr1234=) n.8274G>T | gnomAD v4 |
3 | g.9475654T>A | CA351692076 | SETD5 | n.2847T>A c.3988T>A (p.Ser1330Thr) n.4881T>A n.2272T>A n.6689T>A n.6134T>A c.3892T>A (p.Ser1298Thr) c.*4038T>A (n.*4038T>A) c.*3961T>A (n.*3961T>A) c.*4266T>A (n.*4266T>A) c.*3997T>A (n.*3997T>A) c.3598T>A (p.Ser1200Thr) c.2722+498T>A c.3949T>A (p.Ser1317Thr) c.2928T>A n.1023T>A n.3233T>A n.279T>A n.4056T>A c.4066T>A (p.Ser1356Thr) c.4045T>A (p.Ser1349Thr) c.4027T>A (p.Ser1343Thr) c.4009T>A (p.Ser1337Thr) c.3970T>A (p.Ser1324Thr) c.3931T>A (p.Ser1311Thr) c.3655T>A (p.Ser1219Thr) c.3616T>A (p.Ser1206Thr) c.4006T>A (p.Ser1336Thr) c.3913T>A (p.Ser1305Thr) c.3388T>A (p.Ser1130Thr) c.3703T>A (p.Ser1235Thr) n.8275T>A | |
3 | g.9475654T>C | CA351692071 | SETD5 | n.2847T>C c.3988T>C (p.Ser1330Pro) n.4881T>C n.2272T>C n.6689T>C n.6134T>C c.3892T>C (p.Ser1298Pro) c.*4038T>C (n.*4038T>C) c.*3961T>C (n.*3961T>C) c.*4266T>C (n.*4266T>C) c.*3997T>C (n.*3997T>C) c.3598T>C (p.Ser1200Pro) c.2722+498T>C c.3949T>C (p.Ser1317Pro) c.2928T>C n.1023T>C n.3233T>C n.279T>C n.4056T>C c.4066T>C (p.Ser1356Pro) c.4045T>C (p.Ser1349Pro) c.4027T>C (p.Ser1343Pro) c.4009T>C (p.Ser1337Pro) c.3970T>C (p.Ser1324Pro) c.3931T>C (p.Ser1311Pro) c.3655T>C (p.Ser1219Pro) c.3616T>C (p.Ser1206Pro) c.4006T>C (p.Ser1336Pro) c.3913T>C (p.Ser1305Pro) c.3388T>C (p.Ser1130Pro) c.3703T>C (p.Ser1235Pro) n.8275T>C | |
3 | g.9475654T>G | CA351692081 | SETD5 | n.2847T>G c.3988T>G (p.Ser1330Ala) n.4881T>G n.2272T>G n.6689T>G n.6134T>G c.3892T>G (p.Ser1298Ala) c.*4038T>G (n.*4038T>G) c.*3961T>G (n.*3961T>G) c.*4266T>G (n.*4266T>G) c.*3997T>G (n.*3997T>G) c.3598T>G (p.Ser1200Ala) c.2722+498T>G c.3949T>G (p.Ser1317Ala) c.2928T>G n.1023T>G n.3233T>G n.279T>G n.4056T>G c.4066T>G (p.Ser1356Ala) c.4045T>G (p.Ser1349Ala) c.4027T>G (p.Ser1343Ala) c.4009T>G (p.Ser1337Ala) c.3970T>G (p.Ser1324Ala) c.3931T>G (p.Ser1311Ala) c.3655T>G (p.Ser1219Ala) c.3616T>G (p.Ser1206Ala) c.4006T>G (p.Ser1336Ala) c.3913T>G (p.Ser1305Ala) c.3388T>G (p.Ser1130Ala) c.3703T>G (p.Ser1235Ala) n.8275T>G | |
3 | g.9475655C>A | CA351692104 | SETD5 | n.2848C>A c.3989C>A (p.Ser1330Tyr) n.4882C>A n.2273C>A n.6690C>A n.6135C>A c.3893C>A (p.Ser1298Tyr) c.*4039C>A (n.*4039C>A) c.*3962C>A (n.*3962C>A) c.*4267C>A (n.*4267C>A) c.*3998C>A (n.*3998C>A) c.3599C>A (p.Ser1200Tyr) c.2722+499C>A c.3950C>A (p.Ser1317Tyr) c.2929C>A n.1024C>A n.3234C>A n.280C>A n.4057C>A c.4067C>A (p.Ser1356Tyr) c.4046C>A (p.Ser1349Tyr) c.4028C>A (p.Ser1343Tyr) c.4010C>A (p.Ser1337Tyr) c.3971C>A (p.Ser1324Tyr) c.3932C>A (p.Ser1311Tyr) c.3656C>A (p.Ser1219Tyr) c.3617C>A (p.Ser1206Tyr) c.4007C>A (p.Ser1336Tyr) c.3914C>A (p.Ser1305Tyr) c.3389C>A (p.Ser1130Tyr) c.3704C>A (p.Ser1235Tyr) n.8276C>A | ClinVar dbSNP |
3 | g.9475655C= | CA1344742580 | SETD5 | n.2848C= c.3989C= (p.Ser1330=) n.4882C= n.2273C= n.6690C= n.6135C= c.3893C= (p.Ser1298=) c.*4039C= (n.*4039C=) c.*3962C= (n.*3962C=) c.*4267C= (n.*4267C=) c.*3998C= (n.*3998C=) c.3599C= (p.Ser1200=) c.2722+499C= c.3950C= (p.Ser1317=) c.2929C= n.1024C= n.3234C= n.280C= n.4057C= c.4067C= (p.Ser1356=) c.4046C= (p.Ser1349=) c.4028C= (p.Ser1343=) c.4010C= (p.Ser1337=) c.3971C= (p.Ser1324=) c.3932C= (p.Ser1311=) c.3656C= (p.Ser1219=) c.3617C= (p.Ser1206=) c.4007C= (p.Ser1336=) c.3914C= (p.Ser1305=) c.3389C= (p.Ser1130=) c.3704C= (p.Ser1235=) n.8276C= | |
3 | g.9475655C>G | CA351692108 | SETD5 | n.2848C>G c.3989C>G (p.Ser1330Cys) n.4882C>G n.2273C>G n.6690C>G n.6135C>G c.3893C>G (p.Ser1298Cys) c.*4039C>G (n.*4039C>G) c.*3962C>G (n.*3962C>G) c.*4267C>G (n.*4267C>G) c.*3998C>G (n.*3998C>G) c.3599C>G (p.Ser1200Cys) c.2722+499C>G c.3950C>G (p.Ser1317Cys) c.2929C>G n.1024C>G n.3234C>G n.280C>G n.4057C>G c.4067C>G (p.Ser1356Cys) c.4046C>G (p.Ser1349Cys) c.4028C>G (p.Ser1343Cys) c.4010C>G (p.Ser1337Cys) c.3971C>G (p.Ser1324Cys) c.3932C>G (p.Ser1311Cys) c.3656C>G (p.Ser1219Cys) c.3617C>G (p.Ser1206Cys) c.4007C>G (p.Ser1336Cys) c.3914C>G (p.Ser1305Cys) c.3389C>G (p.Ser1130Cys) c.3704C>G (p.Ser1235Cys) n.8276C>G | |
3 | g.9475655C>T | CA351692106 | SETD5 | n.2848C>T c.3989C>T (p.Ser1330Phe) n.4882C>T n.2273C>T n.6690C>T n.6135C>T c.3893C>T (p.Ser1298Phe) c.*4039C>T (n.*4039C>T) c.*3962C>T (n.*3962C>T) c.*4267C>T (n.*4267C>T) c.*3998C>T (n.*3998C>T) c.3599C>T (p.Ser1200Phe) c.2722+499C>T c.3950C>T (p.Ser1317Phe) c.2929C>T n.1024C>T n.3234C>T n.280C>T n.4057C>T c.4067C>T (p.Ser1356Phe) c.4046C>T (p.Ser1349Phe) c.4028C>T (p.Ser1343Phe) c.4010C>T (p.Ser1337Phe) c.3971C>T (p.Ser1324Phe) c.3932C>T (p.Ser1311Phe) c.3656C>T (p.Ser1219Phe) c.3617C>T (p.Ser1206Phe) c.4007C>T (p.Ser1336Phe) c.3914C>T (p.Ser1305Phe) c.3389C>T (p.Ser1130Phe) c.3704C>T (p.Ser1235Phe) n.8276C>T | |
3 | g.9475656C>A | CA2239824 | SETD5 | n.2849C>A c.3990C>A (p.Ser1330=) n.4883C>A n.2274C>A n.6691C>A n.6136C>A c.3894C>A (p.Ser1298=) c.*4040C>A (n.*4040C>A) c.*3963C>A (n.*3963C>A) c.*4268C>A (n.*4268C>A) c.*3999C>A (n.*3999C>A) c.3600C>A (p.Ser1200=) c.2722+500C>A c.3951C>A (p.Ser1317=) c.2930C>A n.1025C>A n.3235C>A n.281C>A n.4058C>A c.4068C>A (p.Ser1356=) c.4047C>A (p.Ser1349=) c.4029C>A (p.Ser1343=) c.4011C>A (p.Ser1337=) c.3972C>A (p.Ser1324=) c.3933C>A (p.Ser1311=) c.3657C>A (p.Ser1219=) c.3618C>A (p.Ser1206=) c.4008C>A (p.Ser1336=) c.3915C>A (p.Ser1305=) c.3390C>A (p.Ser1130=) c.3705C>A (p.Ser1235=) n.8277C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475656C= | CA1344742584 | SETD5 | n.2849C= c.3990C= (p.Ser1330=) n.4883C= n.2274C= n.6691C= n.6136C= c.3894C= (p.Ser1298=) c.*4040C= (n.*4040C=) c.*3963C= (n.*3963C=) c.*4268C= (n.*4268C=) c.*3999C= (n.*3999C=) c.3600C= (p.Ser1200=) c.2722+500C= c.3951C= (p.Ser1317=) c.2930C= n.1025C= n.3235C= n.281C= n.4058C= c.4068C= (p.Ser1356=) c.4047C= (p.Ser1349=) c.4029C= (p.Ser1343=) c.4011C= (p.Ser1337=) c.3972C= (p.Ser1324=) c.3933C= (p.Ser1311=) c.3657C= (p.Ser1219=) c.3618C= (p.Ser1206=) c.4008C= (p.Ser1336=) c.3915C= (p.Ser1305=) c.3390C= (p.Ser1130=) c.3705C= (p.Ser1235=) n.8277C= | |
3 | g.9475656C>G | CA432528797 | SETD5 | n.2849C>G c.3990C>G (p.Ser1330=) n.4883C>G n.2274C>G n.6691C>G n.6136C>G c.3894C>G (p.Ser1298=) c.*4040C>G (n.*4040C>G) c.*3963C>G (n.*3963C>G) c.*4268C>G (n.*4268C>G) c.*3999C>G (n.*3999C>G) c.3600C>G (p.Ser1200=) c.2722+500C>G c.3951C>G (p.Ser1317=) c.2930C>G n.1025C>G n.3235C>G n.281C>G n.4058C>G c.4068C>G (p.Ser1356=) c.4047C>G (p.Ser1349=) c.4029C>G (p.Ser1343=) c.4011C>G (p.Ser1337=) c.3972C>G (p.Ser1324=) c.3933C>G (p.Ser1311=) c.3657C>G (p.Ser1219=) c.3618C>G (p.Ser1206=) c.4008C>G (p.Ser1336=) c.3915C>G (p.Ser1305=) c.3390C>G (p.Ser1130=) c.3705C>G (p.Ser1235=) n.8277C>G | |
3 | g.9475656C>T | CA432528798 | SETD5 | n.2849C>T c.3990C>T (p.Ser1330=) n.4883C>T n.2274C>T n.6691C>T n.6136C>T c.3894C>T (p.Ser1298=) c.*4040C>T (n.*4040C>T) c.*3963C>T (n.*3963C>T) c.*4268C>T (n.*4268C>T) c.*3999C>T (n.*3999C>T) c.3600C>T (p.Ser1200=) c.2722+500C>T c.3951C>T (p.Ser1317=) c.2930C>T n.1025C>T n.3235C>T n.281C>T n.4058C>T c.4068C>T (p.Ser1356=) c.4047C>T (p.Ser1349=) c.4029C>T (p.Ser1343=) c.4011C>T (p.Ser1337=) c.3972C>T (p.Ser1324=) c.3933C>T (p.Ser1311=) c.3657C>T (p.Ser1219=) c.3618C>T (p.Ser1206=) c.4008C>T (p.Ser1336=) c.3915C>T (p.Ser1305=) c.3390C>T (p.Ser1130=) c.3705C>T (p.Ser1235=) n.8277C>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.9475657T>A | CA351692120 | SETD5 | n.2850T>A c.3991T>A (p.Tyr1331Asn) n.4884T>A n.2275T>A n.6692T>A n.6137T>A c.3895T>A (p.Tyr1299Asn) c.*4041T>A (n.*4041T>A) c.*3964T>A (n.*3964T>A) c.*4269T>A (n.*4269T>A) c.*4000T>A (n.*4000T>A) c.3601T>A (p.Tyr1201Asn) c.2722+501T>A c.3952T>A (p.Tyr1318Asn) c.2931T>A n.1026T>A n.3236T>A n.282T>A n.4059T>A c.4069T>A (p.Tyr1357Asn) c.4048T>A (p.Tyr1350Asn) c.4030T>A (p.Tyr1344Asn) c.4012T>A (p.Tyr1338Asn) c.3973T>A (p.Tyr1325Asn) c.3934T>A (p.Tyr1312Asn) c.3658T>A (p.Tyr1220Asn) c.3619T>A (p.Tyr1207Asn) c.4009T>A (p.Tyr1337Asn) c.3916T>A (p.Tyr1306Asn) c.3391T>A (p.Tyr1131Asn) c.3706T>A (p.Tyr1236Asn) n.8278T>A | |
3 | g.9475657T>C | CA351692114 | SETD5 | n.2850T>C c.3991T>C (p.Tyr1331His) n.4884T>C n.2275T>C n.6692T>C n.6137T>C c.3895T>C (p.Tyr1299His) c.*4041T>C (n.*4041T>C) c.*3964T>C (n.*3964T>C) c.*4269T>C (n.*4269T>C) c.*4000T>C (n.*4000T>C) c.3601T>C (p.Tyr1201His) c.2722+501T>C c.3952T>C (p.Tyr1318His) c.2931T>C n.1026T>C n.3236T>C n.282T>C n.4059T>C c.4069T>C (p.Tyr1357His) c.4048T>C (p.Tyr1350His) c.4030T>C (p.Tyr1344His) c.4012T>C (p.Tyr1338His) c.3973T>C (p.Tyr1325His) c.3934T>C (p.Tyr1312His) c.3658T>C (p.Tyr1220His) c.3619T>C (p.Tyr1207His) c.4009T>C (p.Tyr1337His) c.3916T>C (p.Tyr1306His) c.3391T>C (p.Tyr1131His) c.3706T>C (p.Tyr1236His) n.8278T>C | |
3 | g.9475657T>G | CA351692117 | SETD5 | n.2850T>G c.3991T>G (p.Tyr1331Asp) n.4884T>G n.2275T>G n.6692T>G n.6137T>G c.3895T>G (p.Tyr1299Asp) c.*4041T>G (n.*4041T>G) c.*3964T>G (n.*3964T>G) c.*4269T>G (n.*4269T>G) c.*4000T>G (n.*4000T>G) c.3601T>G (p.Tyr1201Asp) c.2722+501T>G c.3952T>G (p.Tyr1318Asp) c.2931T>G n.1026T>G n.3236T>G n.282T>G n.4059T>G c.4069T>G (p.Tyr1357Asp) c.4048T>G (p.Tyr1350Asp) c.4030T>G (p.Tyr1344Asp) c.4012T>G (p.Tyr1338Asp) c.3973T>G (p.Tyr1325Asp) c.3934T>G (p.Tyr1312Asp) c.3658T>G (p.Tyr1220Asp) c.3619T>G (p.Tyr1207Asp) c.4009T>G (p.Tyr1337Asp) c.3916T>G (p.Tyr1306Asp) c.3391T>G (p.Tyr1131Asp) c.3706T>G (p.Tyr1236Asp) n.8278T>G | |
3 | g.9475658A= | CA1344742588 | SETD5 | n.2851A= c.3992A= (p.Tyr1331=) n.4885A= n.2276A= n.6693A= n.6138A= c.3896A= (p.Tyr1299=) c.*4042A= (n.*4042A=) c.*3965A= (n.*3965A=) c.*4270A= (n.*4270A=) c.*4001A= (n.*4001A=) c.3602A= (p.Tyr1201=) c.2722+502A= c.3953A= (p.Tyr1318=) c.2932A= n.1027A= n.3237A= n.283A= n.4060A= c.4070A= (p.Tyr1357=) c.4049A= (p.Tyr1350=) c.4031A= (p.Tyr1344=) c.4013A= (p.Tyr1338=) c.3974A= (p.Tyr1325=) c.3935A= (p.Tyr1312=) c.3659A= (p.Tyr1220=) c.3620A= (p.Tyr1207=) c.4010A= (p.Tyr1337=) c.3917A= (p.Tyr1306=) c.3392A= (p.Tyr1131=) c.3707A= (p.Tyr1236=) n.8279A= | |
3 | g.9475658A>C | CA351692128 | SETD5 | n.2851A>C c.3992A>C (p.Tyr1331Ser) n.4885A>C n.2276A>C n.6693A>C n.6138A>C c.3896A>C (p.Tyr1299Ser) c.*4042A>C (n.*4042A>C) c.*3965A>C (n.*3965A>C) c.*4270A>C (n.*4270A>C) c.*4001A>C (n.*4001A>C) c.3602A>C (p.Tyr1201Ser) c.2722+502A>C c.3953A>C (p.Tyr1318Ser) c.2932A>C n.1027A>C n.3237A>C n.283A>C n.4060A>C c.4070A>C (p.Tyr1357Ser) c.4049A>C (p.Tyr1350Ser) c.4031A>C (p.Tyr1344Ser) c.4013A>C (p.Tyr1338Ser) c.3974A>C (p.Tyr1325Ser) c.3935A>C (p.Tyr1312Ser) c.3659A>C (p.Tyr1220Ser) c.3620A>C (p.Tyr1207Ser) c.4010A>C (p.Tyr1337Ser) c.3917A>C (p.Tyr1306Ser) c.3392A>C (p.Tyr1131Ser) c.3707A>C (p.Tyr1236Ser) n.8279A>C | |
3 | g.9475658A>G | CA351692132 | SETD5 | n.2851A>G c.3992A>G (p.Tyr1331Cys) n.4885A>G n.2276A>G n.6693A>G n.6138A>G c.3896A>G (p.Tyr1299Cys) c.*4042A>G (n.*4042A>G) c.*3965A>G (n.*3965A>G) c.*4270A>G (n.*4270A>G) c.*4001A>G (n.*4001A>G) c.3602A>G (p.Tyr1201Cys) c.2722+502A>G c.3953A>G (p.Tyr1318Cys) c.2932A>G n.1027A>G n.3237A>G n.283A>G n.4060A>G c.4070A>G (p.Tyr1357Cys) c.4049A>G (p.Tyr1350Cys) c.4031A>G (p.Tyr1344Cys) c.4013A>G (p.Tyr1338Cys) c.3974A>G (p.Tyr1325Cys) c.3935A>G (p.Tyr1312Cys) c.3659A>G (p.Tyr1220Cys) c.3620A>G (p.Tyr1207Cys) c.4010A>G (p.Tyr1337Cys) c.3917A>G (p.Tyr1306Cys) c.3392A>G (p.Tyr1131Cys) c.3707A>G (p.Tyr1236Cys) n.8279A>G | gnomAD v4 |
3 | g.9475658A>T | CA69951959 | SETD5 | n.2851A>T c.3992A>T (p.Tyr1331Phe) n.4885A>T n.2276A>T n.6693A>T n.6138A>T c.3896A>T (p.Tyr1299Phe) c.*4042A>T (n.*4042A>T) c.*3965A>T (n.*3965A>T) c.*4270A>T (n.*4270A>T) c.*4001A>T (n.*4001A>T) c.3602A>T (p.Tyr1201Phe) c.2722+502A>T c.3953A>T (p.Tyr1318Phe) c.2932A>T n.1027A>T n.3237A>T n.283A>T n.4060A>T c.4070A>T (p.Tyr1357Phe) c.4049A>T (p.Tyr1350Phe) c.4031A>T (p.Tyr1344Phe) c.4013A>T (p.Tyr1338Phe) c.3974A>T (p.Tyr1325Phe) c.3935A>T (p.Tyr1312Phe) c.3659A>T (p.Tyr1220Phe) c.3620A>T (p.Tyr1207Phe) c.4010A>T (p.Tyr1337Phe) c.3917A>T (p.Tyr1306Phe) c.3392A>T (p.Tyr1131Phe) c.3707A>T (p.Tyr1236Phe) n.8279A>T | dbSNP |
3 | g.9475659T>A | CA351692154 | SETD5 | n.2852T>A c.3993T>A (p.Tyr1331Ter) n.4886T>A n.2277T>A n.6694T>A n.6139T>A c.3897T>A (p.Tyr1299Ter) c.*4043T>A (n.*4043T>A) c.*3966T>A (n.*3966T>A) c.*4271T>A (n.*4271T>A) c.*4002T>A (n.*4002T>A) c.3603T>A (p.Tyr1201Ter) c.2722+503T>A c.3954T>A (p.Tyr1318Ter) c.2933T>A n.1028T>A n.3238T>A n.284T>A n.4061T>A c.4071T>A (p.Tyr1357Ter) c.4050T>A (p.Tyr1350Ter) c.4032T>A (p.Tyr1344Ter) c.4014T>A (p.Tyr1338Ter) c.3975T>A (p.Tyr1325Ter) c.3936T>A (p.Tyr1312Ter) c.3660T>A (p.Tyr1220Ter) c.3621T>A (p.Tyr1207Ter) c.4011T>A (p.Tyr1337Ter) c.3918T>A (p.Tyr1306Ter) c.3393T>A (p.Tyr1131Ter) c.3708T>A (p.Tyr1236Ter) n.8280T>A | COSMIC COSMIC |
3 | g.9475659T>C | CA432528805 | SETD5 | n.2852T>C c.3993T>C (p.Tyr1331=) n.4886T>C n.2277T>C n.6694T>C n.6139T>C c.3897T>C (p.Tyr1299=) c.*4043T>C (n.*4043T>C) c.*3966T>C (n.*3966T>C) c.*4271T>C (n.*4271T>C) c.*4002T>C (n.*4002T>C) c.3603T>C (p.Tyr1201=) c.2722+503T>C c.3954T>C (p.Tyr1318=) c.2933T>C n.1028T>C n.3238T>C n.284T>C n.4061T>C c.4071T>C (p.Tyr1357=) c.4050T>C (p.Tyr1350=) c.4032T>C (p.Tyr1344=) c.4014T>C (p.Tyr1338=) c.3975T>C (p.Tyr1325=) c.3936T>C (p.Tyr1312=) c.3660T>C (p.Tyr1220=) c.3621T>C (p.Tyr1207=) c.4011T>C (p.Tyr1337=) c.3918T>C (p.Tyr1306=) c.3393T>C (p.Tyr1131=) c.3708T>C (p.Tyr1236=) n.8280T>C | |
3 | g.9475659T>G | CA351692159 | SETD5 | n.2852T>G c.3993T>G (p.Tyr1331Ter) n.4886T>G n.2277T>G n.6694T>G n.6139T>G c.3897T>G (p.Tyr1299Ter) c.*4043T>G (n.*4043T>G) c.*3966T>G (n.*3966T>G) c.*4271T>G (n.*4271T>G) c.*4002T>G (n.*4002T>G) c.3603T>G (p.Tyr1201Ter) c.2722+503T>G c.3954T>G (p.Tyr1318Ter) c.2933T>G n.1028T>G n.3238T>G n.284T>G n.4061T>G c.4071T>G (p.Tyr1357Ter) c.4050T>G (p.Tyr1350Ter) c.4032T>G (p.Tyr1344Ter) c.4014T>G (p.Tyr1338Ter) c.3975T>G (p.Tyr1325Ter) c.3936T>G (p.Tyr1312Ter) c.3660T>G (p.Tyr1220Ter) c.3621T>G (p.Tyr1207Ter) c.4011T>G (p.Tyr1337Ter) c.3918T>G (p.Tyr1306Ter) c.3393T>G (p.Tyr1131Ter) c.3708T>G (p.Tyr1236Ter) n.8280T>G | |
3 | g.9475660T>A | CA351692166 | SETD5 | n.2853T>A c.3994T>A (p.Ser1332Thr) n.4887T>A n.2278T>A n.6695T>A n.6140T>A c.3898T>A (p.Ser1300Thr) c.*4044T>A (n.*4044T>A) c.*3967T>A (n.*3967T>A) c.*4272T>A (n.*4272T>A) c.*4003T>A (n.*4003T>A) c.3604T>A (p.Ser1202Thr) c.2722+504T>A c.3955T>A (p.Ser1319Thr) c.2934T>A n.1029T>A n.3239T>A n.4062T>A c.4072T>A (p.Ser1358Thr) c.4051T>A (p.Ser1351Thr) c.4033T>A (p.Ser1345Thr) c.4015T>A (p.Ser1339Thr) c.3976T>A (p.Ser1326Thr) c.3937T>A (p.Ser1313Thr) c.3661T>A (p.Ser1221Thr) c.3622T>A (p.Ser1208Thr) c.4012T>A (p.Ser1338Thr) c.3919T>A (p.Ser1307Thr) c.3394T>A (p.Ser1132Thr) c.3709T>A (p.Ser1237Thr) n.8281T>A | |
3 | g.9475660T>C | CA351692170 | SETD5 | n.2853T>C c.3994T>C (p.Ser1332Pro) n.4887T>C n.2278T>C n.6695T>C n.6140T>C c.3898T>C (p.Ser1300Pro) c.*4044T>C (n.*4044T>C) c.*3967T>C (n.*3967T>C) c.*4272T>C (n.*4272T>C) c.*4003T>C (n.*4003T>C) c.3604T>C (p.Ser1202Pro) c.2722+504T>C c.3955T>C (p.Ser1319Pro) c.2934T>C n.1029T>C n.3239T>C n.4062T>C c.4072T>C (p.Ser1358Pro) c.4051T>C (p.Ser1351Pro) c.4033T>C (p.Ser1345Pro) c.4015T>C (p.Ser1339Pro) c.3976T>C (p.Ser1326Pro) c.3937T>C (p.Ser1313Pro) c.3661T>C (p.Ser1221Pro) c.3622T>C (p.Ser1208Pro) c.4012T>C (p.Ser1338Pro) c.3919T>C (p.Ser1307Pro) c.3394T>C (p.Ser1132Pro) c.3709T>C (p.Ser1237Pro) n.8281T>C | dbSNP gnomAD v2 |
3 | g.9475660T>G | CA351692174 | SETD5 | n.2853T>G c.3994T>G (p.Ser1332Ala) n.4887T>G n.2278T>G n.6695T>G n.6140T>G c.3898T>G (p.Ser1300Ala) c.*4044T>G (n.*4044T>G) c.*3967T>G (n.*3967T>G) c.*4272T>G (n.*4272T>G) c.*4003T>G (n.*4003T>G) c.3604T>G (p.Ser1202Ala) c.2722+504T>G c.3955T>G (p.Ser1319Ala) c.2934T>G n.1029T>G n.3239T>G n.4062T>G c.4072T>G (p.Ser1358Ala) c.4051T>G (p.Ser1351Ala) c.4033T>G (p.Ser1345Ala) c.4015T>G (p.Ser1339Ala) c.3976T>G (p.Ser1326Ala) c.3937T>G (p.Ser1313Ala) c.3661T>G (p.Ser1221Ala) c.3622T>G (p.Ser1208Ala) c.4012T>G (p.Ser1338Ala) c.3919T>G (p.Ser1307Ala) c.3394T>G (p.Ser1132Ala) c.3709T>G (p.Ser1237Ala) n.8281T>G | |
3 | g.9475660T= | CA1344742592 | SETD5 | n.2853T= c.3994T= (p.Ser1332=) n.4887T= n.2278T= n.6695T= n.6140T= c.3898T= (p.Ser1300=) c.*4044T= (n.*4044T=) c.*3967T= (n.*3967T=) c.*4272T= (n.*4272T=) c.*4003T= (n.*4003T=) c.3604T= (p.Ser1202=) c.2722+504T= c.3955T= (p.Ser1319=) c.2934T= n.1029T= n.3239T= n.4062T= c.4072T= (p.Ser1358=) c.4051T= (p.Ser1351=) c.4033T= (p.Ser1345=) c.4015T= (p.Ser1339=) c.3976T= (p.Ser1326=) c.3937T= (p.Ser1313=) c.3661T= (p.Ser1221=) c.3622T= (p.Ser1208=) c.4012T= (p.Ser1338=) c.3919T= (p.Ser1307=) c.3394T= (p.Ser1132=) c.3709T= (p.Ser1237=) n.8281T= | |
3 | g.9475661C>A | CA351692181 | SETD5 | n.2854C>A c.3995C>A (p.Ser1332Tyr) n.4888C>A n.2279C>A n.6696C>A n.6141C>A c.3899C>A (p.Ser1300Tyr) c.*4045C>A (n.*4045C>A) c.*3968C>A (n.*3968C>A) c.*4273C>A (n.*4273C>A) c.*4004C>A (n.*4004C>A) c.3605C>A (p.Ser1202Tyr) c.2722+505C>A c.3956C>A (p.Ser1319Tyr) c.2935C>A n.1030C>A n.3240C>A n.4063C>A c.4073C>A (p.Ser1358Tyr) c.4052C>A (p.Ser1351Tyr) c.4034C>A (p.Ser1345Tyr) c.4016C>A (p.Ser1339Tyr) c.3977C>A (p.Ser1326Tyr) c.3938C>A (p.Ser1313Tyr) c.3662C>A (p.Ser1221Tyr) c.3623C>A (p.Ser1208Tyr) c.4013C>A (p.Ser1338Tyr) c.3920C>A (p.Ser1307Tyr) c.3395C>A (p.Ser1132Tyr) c.3710C>A (p.Ser1237Tyr) n.8282C>A | |
3 | g.9475661C= | CA1344742596 | SETD5 | n.2854C= c.3995C= (p.Ser1332=) n.4888C= n.2279C= n.6696C= n.6141C= c.3899C= (p.Ser1300=) c.*4045C= (n.*4045C=) c.*3968C= (n.*3968C=) c.*4273C= (n.*4273C=) c.*4004C= (n.*4004C=) c.3605C= (p.Ser1202=) c.2722+505C= c.3956C= (p.Ser1319=) c.2935C= n.1030C= n.3240C= n.4063C= c.4073C= (p.Ser1358=) c.4052C= (p.Ser1351=) c.4034C= (p.Ser1345=) c.4016C= (p.Ser1339=) c.3977C= (p.Ser1326=) c.3938C= (p.Ser1313=) c.3662C= (p.Ser1221=) c.3623C= (p.Ser1208=) c.4013C= (p.Ser1338=) c.3920C= (p.Ser1307=) c.3395C= (p.Ser1132=) c.3710C= (p.Ser1237=) n.8282C= | |
3 | g.9475661C>G | CA351692188 | SETD5 | n.2854C>G c.3995C>G (p.Ser1332Cys) n.4888C>G n.2279C>G n.6696C>G n.6141C>G c.3899C>G (p.Ser1300Cys) c.*4045C>G (n.*4045C>G) c.*3968C>G (n.*3968C>G) c.*4273C>G (n.*4273C>G) c.*4004C>G (n.*4004C>G) c.3605C>G (p.Ser1202Cys) c.2722+505C>G c.3956C>G (p.Ser1319Cys) c.2935C>G n.1030C>G n.3240C>G n.4063C>G c.4073C>G (p.Ser1358Cys) c.4052C>G (p.Ser1351Cys) c.4034C>G (p.Ser1345Cys) c.4016C>G (p.Ser1339Cys) c.3977C>G (p.Ser1326Cys) c.3938C>G (p.Ser1313Cys) c.3662C>G (p.Ser1221Cys) c.3623C>G (p.Ser1208Cys) c.4013C>G (p.Ser1338Cys) c.3920C>G (p.Ser1307Cys) c.3395C>G (p.Ser1132Cys) c.3710C>G (p.Ser1237Cys) n.8282C>G | |
3 | g.9475661C>T | CA351692195 | SETD5 | n.2854C>T c.3995C>T (p.Ser1332Phe) n.4888C>T n.2279C>T n.6696C>T n.6141C>T c.3899C>T (p.Ser1300Phe) c.*4045C>T (n.*4045C>T) c.*3968C>T (n.*3968C>T) c.*4273C>T (n.*4273C>T) c.*4004C>T (n.*4004C>T) c.3605C>T (p.Ser1202Phe) c.2722+505C>T c.3956C>T (p.Ser1319Phe) c.2935C>T n.1030C>T n.3240C>T n.4063C>T c.4073C>T (p.Ser1358Phe) c.4052C>T (p.Ser1351Phe) c.4034C>T (p.Ser1345Phe) c.4016C>T (p.Ser1339Phe) c.3977C>T (p.Ser1326Phe) c.3938C>T (p.Ser1313Phe) c.3662C>T (p.Ser1221Phe) c.3623C>T (p.Ser1208Phe) c.4013C>T (p.Ser1338Phe) c.3920C>T (p.Ser1307Phe) c.3395C>T (p.Ser1132Phe) c.3710C>T (p.Ser1237Phe) n.8282C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
3 | g.9475662C>A | CA432528810 | SETD5 | n.2855C>A c.3996C>A (p.Ser1332=) n.4889C>A n.2280C>A n.6697C>A n.6142C>A c.3900C>A (p.Ser1300=) c.*4046C>A (n.*4046C>A) c.*3969C>A (n.*3969C>A) c.*4274C>A (n.*4274C>A) c.*4005C>A (n.*4005C>A) c.3606C>A (p.Ser1202=) c.2722+506C>A c.3957C>A (p.Ser1319=) c.2936C>A n.1031C>A n.3241C>A n.4064C>A c.4074C>A (p.Ser1358=) c.4053C>A (p.Ser1351=) c.4035C>A (p.Ser1345=) c.4017C>A (p.Ser1339=) c.3978C>A (p.Ser1326=) c.3939C>A (p.Ser1313=) c.3663C>A (p.Ser1221=) c.3624C>A (p.Ser1208=) c.4014C>A (p.Ser1338=) c.3921C>A (p.Ser1307=) c.3396C>A (p.Ser1132=) c.3711C>A (p.Ser1237=) n.8283C>A | |
3 | g.9475662C>G | CA432528811 | SETD5 | n.2855C>G c.3996C>G (p.Ser1332=) n.4889C>G n.2280C>G n.6697C>G n.6142C>G c.3900C>G (p.Ser1300=) c.*4046C>G (n.*4046C>G) c.*3969C>G (n.*3969C>G) c.*4274C>G (n.*4274C>G) c.*4005C>G (n.*4005C>G) c.3606C>G (p.Ser1202=) c.2722+506C>G c.3957C>G (p.Ser1319=) c.2936C>G n.1031C>G n.3241C>G n.4064C>G c.4074C>G (p.Ser1358=) c.4053C>G (p.Ser1351=) c.4035C>G (p.Ser1345=) c.4017C>G (p.Ser1339=) c.3978C>G (p.Ser1326=) c.3939C>G (p.Ser1313=) c.3663C>G (p.Ser1221=) c.3624C>G (p.Ser1208=) c.4014C>G (p.Ser1338=) c.3921C>G (p.Ser1307=) c.3396C>G (p.Ser1132=) c.3711C>G (p.Ser1237=) n.8283C>G | |
3 | g.9475662C>T | CA432528812 | SETD5 | n.2855C>T c.3996C>T (p.Ser1332=) n.4889C>T n.2280C>T n.6697C>T n.6142C>T c.3900C>T (p.Ser1300=) c.*4046C>T (n.*4046C>T) c.*3969C>T (n.*3969C>T) c.*4274C>T (n.*4274C>T) c.*4005C>T (n.*4005C>T) c.3606C>T (p.Ser1202=) c.2722+506C>T c.3957C>T (p.Ser1319=) c.2936C>T n.1031C>T n.3241C>T n.4064C>T c.4074C>T (p.Ser1358=) c.4053C>T (p.Ser1351=) c.4035C>T (p.Ser1345=) c.4017C>T (p.Ser1339=) c.3978C>T (p.Ser1326=) c.3939C>T (p.Ser1313=) c.3663C>T (p.Ser1221=) c.3624C>T (p.Ser1208=) c.4014C>T (p.Ser1338=) c.3921C>T (p.Ser1307=) c.3396C>T (p.Ser1132=) c.3711C>T (p.Ser1237=) n.8283C>T | gnomAD v4 |
3 | g.9475663A= | CA1344742601 | SETD5 | n.2856A= c.3997A= (p.Ser1333=) n.4890A= n.2281A= n.6698A= n.6143A= c.3901A= (p.Ser1301=) c.*4047A= (n.*4047A=) c.*3970A= (n.*3970A=) c.*4275A= (n.*4275A=) c.*4006A= (n.*4006A=) c.3607A= (p.Ser1203=) c.2722+507A= c.3958A= (p.Ser1320=) c.2937A= n.1032A= n.3242A= n.4065A= c.4075A= (p.Ser1359=) c.4054A= (p.Ser1352=) c.4036A= (p.Ser1346=) c.4018A= (p.Ser1340=) c.3979A= (p.Ser1327=) c.3940A= (p.Ser1314=) c.3664A= (p.Ser1222=) c.3625A= (p.Ser1209=) c.4015A= (p.Ser1339=) c.3922A= (p.Ser1308=) c.3397A= (p.Ser1133=) c.3712A= (p.Ser1238=) n.8284A= | |
3 | g.9475663A>C | CA2239825 | SETD5 | n.2856A>C c.3997A>C (p.Ser1333Arg) n.4890A>C n.2281A>C n.6698A>C n.6143A>C c.3901A>C (p.Ser1301Arg) c.*4047A>C (n.*4047A>C) c.*3970A>C (n.*3970A>C) c.*4275A>C (n.*4275A>C) c.*4006A>C (n.*4006A>C) c.3607A>C (p.Ser1203Arg) c.2722+507A>C c.3958A>C (p.Ser1320Arg) c.2937A>C n.1032A>C n.3242A>C n.4065A>C c.4075A>C (p.Ser1359Arg) c.4054A>C (p.Ser1352Arg) c.4036A>C (p.Ser1346Arg) c.4018A>C (p.Ser1340Arg) c.3979A>C (p.Ser1327Arg) c.3940A>C (p.Ser1314Arg) c.3664A>C (p.Ser1222Arg) c.3625A>C (p.Ser1209Arg) c.4015A>C (p.Ser1339Arg) c.3922A>C (p.Ser1308Arg) c.3397A>C (p.Ser1133Arg) c.3712A>C (p.Ser1238Arg) n.8284A>C | dbSNP ExAC gnomAD v2 |
3 | g.9475663A>G | CA351692237 | SETD5 | n.2856A>G c.3997A>G (p.Ser1333Gly) n.4890A>G n.2281A>G n.6698A>G n.6143A>G c.3901A>G (p.Ser1301Gly) c.*4047A>G (n.*4047A>G) c.*3970A>G (n.*3970A>G) c.*4275A>G (n.*4275A>G) c.*4006A>G (n.*4006A>G) c.3607A>G (p.Ser1203Gly) c.2722+507A>G c.3958A>G (p.Ser1320Gly) c.2937A>G n.1032A>G n.3242A>G n.4065A>G c.4075A>G (p.Ser1359Gly) c.4054A>G (p.Ser1352Gly) c.4036A>G (p.Ser1346Gly) c.4018A>G (p.Ser1340Gly) c.3979A>G (p.Ser1327Gly) c.3940A>G (p.Ser1314Gly) c.3664A>G (p.Ser1222Gly) c.3625A>G (p.Ser1209Gly) c.4015A>G (p.Ser1339Gly) c.3922A>G (p.Ser1308Gly) c.3397A>G (p.Ser1133Gly) c.3712A>G (p.Ser1238Gly) n.8284A>G | |
3 | g.9475663A>T | CA351692234 | SETD5 | n.2856A>T c.3997A>T (p.Ser1333Cys) n.4890A>T n.2281A>T n.6698A>T n.6143A>T c.3901A>T (p.Ser1301Cys) c.*4047A>T (n.*4047A>T) c.*3970A>T (n.*3970A>T) c.*4275A>T (n.*4275A>T) c.*4006A>T (n.*4006A>T) c.3607A>T (p.Ser1203Cys) c.2722+507A>T c.3958A>T (p.Ser1320Cys) c.2937A>T n.1032A>T n.3242A>T n.4065A>T c.4075A>T (p.Ser1359Cys) c.4054A>T (p.Ser1352Cys) c.4036A>T (p.Ser1346Cys) c.4018A>T (p.Ser1340Cys) c.3979A>T (p.Ser1327Cys) c.3940A>T (p.Ser1314Cys) c.3664A>T (p.Ser1222Cys) c.3625A>T (p.Ser1209Cys) c.4015A>T (p.Ser1339Cys) c.3922A>T (p.Ser1308Cys) c.3397A>T (p.Ser1133Cys) c.3712A>T (p.Ser1238Cys) n.8284A>T | |
3 | g.9475664G>A | CA351692245 | SETD5 | n.2857G>A c.3998G>A (p.Ser1333Asn) n.4891G>A n.2282G>A n.6699G>A n.6144G>A c.3902G>A (p.Ser1301Asn) c.*4048G>A (n.*4048G>A) c.*3971G>A (n.*3971G>A) c.*4276G>A (n.*4276G>A) c.*4007G>A (n.*4007G>A) c.3608G>A (p.Ser1203Asn) c.2722+508G>A c.3959G>A (p.Ser1320Asn) c.2938G>A n.1033G>A n.3243G>A n.4066G>A c.4076G>A (p.Ser1359Asn) c.4055G>A (p.Ser1352Asn) c.4037G>A (p.Ser1346Asn) c.4019G>A (p.Ser1340Asn) c.3980G>A (p.Ser1327Asn) c.3941G>A (p.Ser1314Asn) c.3665G>A (p.Ser1222Asn) c.3626G>A (p.Ser1209Asn) c.4016G>A (p.Ser1339Asn) c.3923G>A (p.Ser1308Asn) c.3398G>A (p.Ser1133Asn) c.3713G>A (p.Ser1238Asn) n.8285G>A | |
3 | g.9475664G>C | CA351692247 | SETD5 | n.2857G>C c.3998G>C (p.Ser1333Thr) n.4891G>C n.2282G>C n.6699G>C n.6144G>C c.3902G>C (p.Ser1301Thr) c.*4048G>C (n.*4048G>C) c.*3971G>C (n.*3971G>C) c.*4276G>C (n.*4276G>C) c.*4007G>C (n.*4007G>C) c.3608G>C (p.Ser1203Thr) c.2722+508G>C c.3959G>C (p.Ser1320Thr) c.2938G>C n.1033G>C n.3243G>C n.4066G>C c.4076G>C (p.Ser1359Thr) c.4055G>C (p.Ser1352Thr) c.4037G>C (p.Ser1346Thr) c.4019G>C (p.Ser1340Thr) c.3980G>C (p.Ser1327Thr) c.3941G>C (p.Ser1314Thr) c.3665G>C (p.Ser1222Thr) c.3626G>C (p.Ser1209Thr) c.4016G>C (p.Ser1339Thr) c.3923G>C (p.Ser1308Thr) c.3398G>C (p.Ser1133Thr) c.3713G>C (p.Ser1238Thr) n.8285G>C | |
3 | g.9475664G>T | CA351692251 | SETD5 | n.2857G>T c.3998G>T (p.Ser1333Ile) n.4891G>T n.2282G>T n.6699G>T n.6144G>T c.3902G>T (p.Ser1301Ile) c.*4048G>T (n.*4048G>T) c.*3971G>T (n.*3971G>T) c.*4276G>T (n.*4276G>T) c.*4007G>T (n.*4007G>T) c.3608G>T (p.Ser1203Ile) c.2722+508G>T c.3959G>T (p.Ser1320Ile) c.2938G>T n.1033G>T n.3243G>T n.4066G>T c.4076G>T (p.Ser1359Ile) c.4055G>T (p.Ser1352Ile) c.4037G>T (p.Ser1346Ile) c.4019G>T (p.Ser1340Ile) c.3980G>T (p.Ser1327Ile) c.3941G>T (p.Ser1314Ile) c.3665G>T (p.Ser1222Ile) c.3626G>T (p.Ser1209Ile) c.4016G>T (p.Ser1339Ile) c.3923G>T (p.Ser1308Ile) c.3398G>T (p.Ser1133Ile) c.3713G>T (p.Ser1238Ile) n.8285G>T | |
3 | g.9475665C>A | CA351692261 | SETD5 | n.2858C>A c.3999C>A (p.Ser1333Arg) n.4892C>A n.2283C>A n.6700C>A n.6145C>A c.3903C>A (p.Ser1301Arg) c.*4049C>A (n.*4049C>A) c.*3972C>A (n.*3972C>A) c.*4277C>A (n.*4277C>A) c.*4008C>A (n.*4008C>A) c.3609C>A (p.Ser1203Arg) c.2722+509C>A c.3960C>A (p.Ser1320Arg) c.2939C>A n.1034C>A n.3244C>A n.4067C>A c.4077C>A (p.Ser1359Arg) c.4056C>A (p.Ser1352Arg) c.4038C>A (p.Ser1346Arg) c.4020C>A (p.Ser1340Arg) c.3981C>A (p.Ser1327Arg) c.3942C>A (p.Ser1314Arg) c.3666C>A (p.Ser1222Arg) c.3627C>A (p.Ser1209Arg) c.4017C>A (p.Ser1339Arg) c.3924C>A (p.Ser1308Arg) c.3399C>A (p.Ser1133Arg) c.3714C>A (p.Ser1238Arg) n.8286C>A | COSMIC COSMIC |
3 | g.9475665C= | CA1344742606 | SETD5 | n.2858C= c.3999C= (p.Ser1333=) n.4892C= n.2283C= n.6700C= n.6145C= c.3903C= (p.Ser1301=) c.*4049C= (n.*4049C=) c.*3972C= (n.*3972C=) c.*4277C= (n.*4277C=) c.*4008C= (n.*4008C=) c.3609C= (p.Ser1203=) c.2722+509C= c.3960C= (p.Ser1320=) c.2939C= n.1034C= n.3244C= n.4067C= c.4077C= (p.Ser1359=) c.4056C= (p.Ser1352=) c.4038C= (p.Ser1346=) c.4020C= (p.Ser1340=) c.3981C= (p.Ser1327=) c.3942C= (p.Ser1314=) c.3666C= (p.Ser1222=) c.3627C= (p.Ser1209=) c.4017C= (p.Ser1339=) c.3924C= (p.Ser1308=) c.3399C= (p.Ser1133=) c.3714C= (p.Ser1238=) n.8286C= | |
3 | g.9475665C>G | CA351692270 | SETD5 | n.2858C>G c.3999C>G (p.Ser1333Arg) n.4892C>G n.2283C>G n.6700C>G n.6145C>G c.3903C>G (p.Ser1301Arg) c.*4049C>G (n.*4049C>G) c.*3972C>G (n.*3972C>G) c.*4277C>G (n.*4277C>G) c.*4008C>G (n.*4008C>G) c.3609C>G (p.Ser1203Arg) c.2722+509C>G c.3960C>G (p.Ser1320Arg) c.2939C>G n.1034C>G n.3244C>G n.4067C>G c.4077C>G (p.Ser1359Arg) c.4056C>G (p.Ser1352Arg) c.4038C>G (p.Ser1346Arg) c.4020C>G (p.Ser1340Arg) c.3981C>G (p.Ser1327Arg) c.3942C>G (p.Ser1314Arg) c.3666C>G (p.Ser1222Arg) c.3627C>G (p.Ser1209Arg) c.4017C>G (p.Ser1339Arg) c.3924C>G (p.Ser1308Arg) c.3399C>G (p.Ser1133Arg) c.3714C>G (p.Ser1238Arg) n.8286C>G | |
3 | g.9475665C>T | CA2239826 | SETD5 | n.2858C>T c.3999C>T (p.Ser1333=) n.4892C>T n.2283C>T n.6700C>T n.6145C>T c.3903C>T (p.Ser1301=) c.*4049C>T (n.*4049C>T) c.*3972C>T (n.*3972C>T) c.*4277C>T (n.*4277C>T) c.*4008C>T (n.*4008C>T) c.3609C>T (p.Ser1203=) c.2722+509C>T c.3960C>T (p.Ser1320=) c.2939C>T n.1034C>T n.3244C>T n.4067C>T c.4077C>T (p.Ser1359=) c.4056C>T (p.Ser1352=) c.4038C>T (p.Ser1346=) c.4020C>T (p.Ser1340=) c.3981C>T (p.Ser1327=) c.3942C>T (p.Ser1314=) c.3666C>T (p.Ser1222=) c.3627C>T (p.Ser1209=) c.4017C>T (p.Ser1339=) c.3924C>T (p.Ser1308=) c.3399C>T (p.Ser1133=) c.3714C>T (p.Ser1238=) n.8286C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475666C>A | CA351692277 | SETD5 | n.2859C>A c.4000C>A (p.Pro1334Thr) n.4893C>A n.2284C>A n.6701C>A n.6146C>A c.3904C>A (p.Pro1302Thr) c.*4050C>A (n.*4050C>A) c.*3973C>A (n.*3973C>A) c.*4278C>A (n.*4278C>A) c.*4009C>A (n.*4009C>A) c.3610C>A (p.Pro1204Thr) c.2722+510C>A c.3961C>A (p.Pro1321Thr) c.2940C>A n.1035C>A n.3245C>A n.4068C>A c.4078C>A (p.Pro1360Thr) c.4057C>A (p.Pro1353Thr) c.4039C>A (p.Pro1347Thr) c.4021C>A (p.Pro1341Thr) c.3982C>A (p.Pro1328Thr) c.3943C>A (p.Pro1315Thr) c.3667C>A (p.Pro1223Thr) c.3628C>A (p.Pro1210Thr) c.4018C>A (p.Pro1340Thr) c.3925C>A (p.Pro1309Thr) c.3400C>A (p.Pro1134Thr) c.3715C>A (p.Pro1239Thr) n.8287C>A | |
3 | g.9475666C= | CA1344742610 | SETD5 | n.2859C= c.4000C= (p.Pro1334=) n.4893C= n.2284C= n.6701C= n.6146C= c.3904C= (p.Pro1302=) c.*4050C= (n.*4050C=) c.*3973C= (n.*3973C=) c.*4278C= (n.*4278C=) c.*4009C= (n.*4009C=) c.3610C= (p.Pro1204=) c.2722+510C= c.3961C= (p.Pro1321=) c.2940C= n.1035C= n.3245C= n.4068C= c.4078C= (p.Pro1360=) c.4057C= (p.Pro1353=) c.4039C= (p.Pro1347=) c.4021C= (p.Pro1341=) c.3982C= (p.Pro1328=) c.3943C= (p.Pro1315=) c.3667C= (p.Pro1223=) c.3628C= (p.Pro1210=) c.4018C= (p.Pro1340=) c.3925C= (p.Pro1309=) c.3400C= (p.Pro1134=) c.3715C= (p.Pro1239=) n.8287C= | |
3 | g.9475666C>G | CA351692279 | SETD5 | n.2859C>G c.4000C>G (p.Pro1334Ala) n.4893C>G n.2284C>G n.6701C>G n.6146C>G c.3904C>G (p.Pro1302Ala) c.*4050C>G (n.*4050C>G) c.*3973C>G (n.*3973C>G) c.*4278C>G (n.*4278C>G) c.*4009C>G (n.*4009C>G) c.3610C>G (p.Pro1204Ala) c.2722+510C>G c.3961C>G (p.Pro1321Ala) c.2940C>G n.1035C>G n.3245C>G n.4068C>G c.4078C>G (p.Pro1360Ala) c.4057C>G (p.Pro1353Ala) c.4039C>G (p.Pro1347Ala) c.4021C>G (p.Pro1341Ala) c.3982C>G (p.Pro1328Ala) c.3943C>G (p.Pro1315Ala) c.3667C>G (p.Pro1223Ala) c.3628C>G (p.Pro1210Ala) c.4018C>G (p.Pro1340Ala) c.3925C>G (p.Pro1309Ala) c.3400C>G (p.Pro1134Ala) c.3715C>G (p.Pro1239Ala) n.8287C>G | dbSNP |
3 | g.9475666C>T | CA351692284 | SETD5 | n.2859C>T c.4000C>T (p.Pro1334Ser) n.4893C>T n.2284C>T n.6701C>T n.6146C>T c.3904C>T (p.Pro1302Ser) c.*4050C>T (n.*4050C>T) c.*3973C>T (n.*3973C>T) c.*4278C>T (n.*4278C>T) c.*4009C>T (n.*4009C>T) c.3610C>T (p.Pro1204Ser) c.2722+510C>T c.3961C>T (p.Pro1321Ser) c.2940C>T n.1035C>T n.3245C>T n.4068C>T c.4078C>T (p.Pro1360Ser) c.4057C>T (p.Pro1353Ser) c.4039C>T (p.Pro1347Ser) c.4021C>T (p.Pro1341Ser) c.3982C>T (p.Pro1328Ser) c.3943C>T (p.Pro1315Ser) c.3667C>T (p.Pro1223Ser) c.3628C>T (p.Pro1210Ser) c.4018C>T (p.Pro1340Ser) c.3925C>T (p.Pro1309Ser) c.3400C>T (p.Pro1134Ser) c.3715C>T (p.Pro1239Ser) n.8287C>T | ClinVar |
3 | g.9475667C>A | CA351692289 | SETD5 | n.2860C>A c.4001C>A (p.Pro1334His) n.4894C>A n.2285C>A n.6702C>A n.6147C>A c.3905C>A (p.Pro1302His) c.*4051C>A (n.*4051C>A) c.*3974C>A (n.*3974C>A) c.*4279C>A (n.*4279C>A) c.*4010C>A (n.*4010C>A) c.3611C>A (p.Pro1204His) c.2722+511C>A c.3962C>A (p.Pro1321His) c.2941C>A n.1036C>A n.3246C>A n.4069C>A c.4079C>A (p.Pro1360His) c.4058C>A (p.Pro1353His) c.4040C>A (p.Pro1347His) c.4022C>A (p.Pro1341His) c.3983C>A (p.Pro1328His) c.3944C>A (p.Pro1315His) c.3668C>A (p.Pro1223His) c.3629C>A (p.Pro1210His) c.4019C>A (p.Pro1340His) c.3926C>A (p.Pro1309His) c.3401C>A (p.Pro1134His) c.3716C>A (p.Pro1239His) n.8288C>A | COSMIC COSMIC |
3 | g.9475667C>G | CA351692295 | SETD5 | n.2860C>G c.4001C>G (p.Pro1334Arg) n.4894C>G n.2285C>G n.6702C>G n.6147C>G c.3905C>G (p.Pro1302Arg) c.*4051C>G (n.*4051C>G) c.*3974C>G (n.*3974C>G) c.*4279C>G (n.*4279C>G) c.*4010C>G (n.*4010C>G) c.3611C>G (p.Pro1204Arg) c.2722+511C>G c.3962C>G (p.Pro1321Arg) c.2941C>G n.1036C>G n.3246C>G n.4069C>G c.4079C>G (p.Pro1360Arg) c.4058C>G (p.Pro1353Arg) c.4040C>G (p.Pro1347Arg) c.4022C>G (p.Pro1341Arg) c.3983C>G (p.Pro1328Arg) c.3944C>G (p.Pro1315Arg) c.3668C>G (p.Pro1223Arg) c.3629C>G (p.Pro1210Arg) c.4019C>G (p.Pro1340Arg) c.3926C>G (p.Pro1309Arg) c.3401C>G (p.Pro1134Arg) c.3716C>G (p.Pro1239Arg) n.8288C>G | |
3 | g.9475667C>T | CA351692328 | SETD5 | n.2860C>T c.4001C>T (p.Pro1334Leu) n.4894C>T n.2285C>T n.6702C>T n.6147C>T c.3905C>T (p.Pro1302Leu) c.*4051C>T (n.*4051C>T) c.*3974C>T (n.*3974C>T) c.*4279C>T (n.*4279C>T) c.*4010C>T (n.*4010C>T) c.3611C>T (p.Pro1204Leu) c.2722+511C>T c.3962C>T (p.Pro1321Leu) c.2941C>T n.1036C>T n.3246C>T n.4069C>T c.4079C>T (p.Pro1360Leu) c.4058C>T (p.Pro1353Leu) c.4040C>T (p.Pro1347Leu) c.4022C>T (p.Pro1341Leu) c.3983C>T (p.Pro1328Leu) c.3944C>T (p.Pro1315Leu) c.3668C>T (p.Pro1223Leu) c.3629C>T (p.Pro1210Leu) c.4019C>T (p.Pro1340Leu) c.3926C>T (p.Pro1309Leu) c.3401C>T (p.Pro1134Leu) c.3716C>T (p.Pro1239Leu) n.8288C>T | |
3 | g.9475668C>A | CA432528830 | SETD5 | n.2861C>A c.4002C>A (p.Pro1334=) n.4895C>A n.2286C>A n.6703C>A n.6148C>A c.3906C>A (p.Pro1302=) c.*4052C>A (n.*4052C>A) c.*3975C>A (n.*3975C>A) c.*4280C>A (n.*4280C>A) c.*4011C>A (n.*4011C>A) c.3612C>A (p.Pro1204=) c.2722+512C>A c.3963C>A (p.Pro1321=) c.2942C>A n.1037C>A n.3247C>A n.4070C>A c.4080C>A (p.Pro1360=) c.4059C>A (p.Pro1353=) c.4041C>A (p.Pro1347=) c.4023C>A (p.Pro1341=) c.3984C>A (p.Pro1328=) c.3945C>A (p.Pro1315=) c.3669C>A (p.Pro1223=) c.3630C>A (p.Pro1210=) c.4020C>A (p.Pro1340=) c.3927C>A (p.Pro1309=) c.3402C>A (p.Pro1134=) c.3717C>A (p.Pro1239=) n.8289C>A | |
3 | g.9475668C= | CA1344742617 | SETD5 | n.2861C= c.4002C= (p.Pro1334=) n.4895C= n.2286C= n.6703C= n.6148C= c.3906C= (p.Pro1302=) c.*4052C= (n.*4052C=) c.*3975C= (n.*3975C=) c.*4280C= (n.*4280C=) c.*4011C= (n.*4011C=) c.3612C= (p.Pro1204=) c.2722+512C= c.3963C= (p.Pro1321=) c.2942C= n.1037C= n.3247C= n.4070C= c.4080C= (p.Pro1360=) c.4059C= (p.Pro1353=) c.4041C= (p.Pro1347=) c.4023C= (p.Pro1341=) c.3984C= (p.Pro1328=) c.3945C= (p.Pro1315=) c.3669C= (p.Pro1223=) c.3630C= (p.Pro1210=) c.4020C= (p.Pro1340=) c.3927C= (p.Pro1309=) c.3402C= (p.Pro1134=) c.3717C= (p.Pro1239=) n.8289C= | |
3 | g.9475668C>G | CA432528831 | SETD5 | n.2861C>G c.4002C>G (p.Pro1334=) n.4895C>G n.2286C>G n.6703C>G n.6148C>G c.3906C>G (p.Pro1302=) c.*4052C>G (n.*4052C>G) c.*3975C>G (n.*3975C>G) c.*4280C>G (n.*4280C>G) c.*4011C>G (n.*4011C>G) c.3612C>G (p.Pro1204=) c.2722+512C>G c.3963C>G (p.Pro1321=) c.2942C>G n.1037C>G n.3247C>G n.4070C>G c.4080C>G (p.Pro1360=) c.4059C>G (p.Pro1353=) c.4041C>G (p.Pro1347=) c.4023C>G (p.Pro1341=) c.3984C>G (p.Pro1328=) c.3945C>G (p.Pro1315=) c.3669C>G (p.Pro1223=) c.3630C>G (p.Pro1210=) c.4020C>G (p.Pro1340=) c.3927C>G (p.Pro1309=) c.3402C>G (p.Pro1134=) c.3717C>G (p.Pro1239=) n.8289C>G | |
3 | g.9475668C>T | CA2239827 | SETD5 | n.2861C>T c.4002C>T (p.Pro1334=) n.4895C>T n.2286C>T n.6703C>T n.6148C>T c.3906C>T (p.Pro1302=) c.*4052C>T (n.*4052C>T) c.*3975C>T (n.*3975C>T) c.*4280C>T (n.*4280C>T) c.*4011C>T (n.*4011C>T) c.3612C>T (p.Pro1204=) c.2722+512C>T c.3963C>T (p.Pro1321=) c.2942C>T n.1037C>T n.3247C>T n.4070C>T c.4080C>T (p.Pro1360=) c.4059C>T (p.Pro1353=) c.4041C>T (p.Pro1347=) c.4023C>T (p.Pro1341=) c.3984C>T (p.Pro1328=) c.3945C>T (p.Pro1315=) c.3669C>T (p.Pro1223=) c.3630C>T (p.Pro1210=) c.4020C>T (p.Pro1340=) c.3927C>T (p.Pro1309=) c.3402C>T (p.Pro1134=) c.3717C>T (p.Pro1239=) n.8289C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475669G>A | CA2239828 | SETD5 | n.2862G>A c.4003G>A (p.Ala1335Thr) n.4896G>A n.2287G>A n.6704G>A n.6149G>A c.3907G>A (p.Ala1303Thr) c.*4053G>A (n.*4053G>A) c.*3976G>A (n.*3976G>A) c.*4281G>A (n.*4281G>A) c.*4012G>A (n.*4012G>A) c.3613G>A (p.Ala1205Thr) c.2722+513G>A c.3964G>A (p.Ala1322Thr) c.2943G>A n.1038G>A n.3248G>A n.4071G>A c.4081G>A (p.Ala1361Thr) c.4060G>A (p.Ala1354Thr) c.4042G>A (p.Ala1348Thr) c.4024G>A (p.Ala1342Thr) c.3985G>A (p.Ala1329Thr) c.3946G>A (p.Ala1316Thr) c.3670G>A (p.Ala1224Thr) c.3631G>A (p.Ala1211Thr) c.4021G>A (p.Ala1341Thr) c.3928G>A (p.Ala1310Thr) c.3403G>A (p.Ala1135Thr) c.3718G>A (p.Ala1240Thr) n.8290G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
3 | g.9475669G>C | CA351692339 | SETD5 | n.2862G>C c.4003G>C (p.Ala1335Pro) n.4896G>C n.2287G>C n.6704G>C n.6149G>C c.3907G>C (p.Ala1303Pro) c.*4053G>C (n.*4053G>C) c.*3976G>C (n.*3976G>C) c.*4281G>C (n.*4281G>C) c.*4012G>C (n.*4012G>C) c.3613G>C (p.Ala1205Pro) c.2722+513G>C c.3964G>C (p.Ala1322Pro) c.2943G>C n.1038G>C n.3248G>C n.4071G>C c.4081G>C (p.Ala1361Pro) c.4060G>C (p.Ala1354Pro) c.4042G>C (p.Ala1348Pro) c.4024G>C (p.Ala1342Pro) c.3985G>C (p.Ala1329Pro) c.3946G>C (p.Ala1316Pro) c.3670G>C (p.Ala1224Pro) c.3631G>C (p.Ala1211Pro) c.4021G>C (p.Ala1341Pro) c.3928G>C (p.Ala1310Pro) c.3403G>C (p.Ala1135Pro) c.3718G>C (p.Ala1240Pro) n.8290G>C | |
3 | g.9475669G= | CA1344742624 | SETD5 | n.2862G= c.4003G= (p.Ala1335=) n.4896G= n.2287G= n.6704G= n.6149G= c.3907G= (p.Ala1303=) c.*4053G= (n.*4053G=) c.*3976G= (n.*3976G=) c.*4281G= (n.*4281G=) c.*4012G= (n.*4012G=) c.3613G= (p.Ala1205=) c.2722+513G= c.3964G= (p.Ala1322=) c.2943G= n.1038G= n.3248G= n.4071G= c.4081G= (p.Ala1361=) c.4060G= (p.Ala1354=) c.4042G= (p.Ala1348=) c.4024G= (p.Ala1342=) c.3985G= (p.Ala1329=) c.3946G= (p.Ala1316=) c.3670G= (p.Ala1224=) c.3631G= (p.Ala1211=) c.4021G= (p.Ala1341=) c.3928G= (p.Ala1310=) c.3403G= (p.Ala1135=) c.3718G= (p.Ala1240=) n.8290G= | |
3 | g.9475669G>T | CA2239829 | SETD5 | n.2862G>T c.4003G>T (p.Ala1335Ser) n.4896G>T n.2287G>T n.6704G>T n.6149G>T c.3907G>T (p.Ala1303Ser) c.*4053G>T (n.*4053G>T) c.*3976G>T (n.*3976G>T) c.*4281G>T (n.*4281G>T) c.*4012G>T (n.*4012G>T) c.3613G>T (p.Ala1205Ser) c.2722+513G>T c.3964G>T (p.Ala1322Ser) c.2943G>T n.1038G>T n.3248G>T n.4071G>T c.4081G>T (p.Ala1361Ser) c.4060G>T (p.Ala1354Ser) c.4042G>T (p.Ala1348Ser) c.4024G>T (p.Ala1342Ser) c.3985G>T (p.Ala1329Ser) c.3946G>T (p.Ala1316Ser) c.3670G>T (p.Ala1224Ser) c.3631G>T (p.Ala1211Ser) c.4021G>T (p.Ala1341Ser) c.3928G>T (p.Ala1310Ser) c.3403G>T (p.Ala1135Ser) c.3718G>T (p.Ala1240Ser) n.8290G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.9475670C>A | CA351692343 | SETD5 | n.2863C>A c.4004C>A (p.Ala1335Asp) n.4897C>A n.2288C>A n.6705C>A n.6150C>A c.3908C>A (p.Ala1303Asp) c.*4054C>A (n.*4054C>A) c.*3977C>A (n.*3977C>A) c.*4282C>A (n.*4282C>A) c.*4013C>A (n.*4013C>A) c.3614C>A (p.Ala1205Asp) c.2722+514C>A c.3965C>A (p.Ala1322Asp) c.2944C>A n.1039C>A n.3249C>A n.4072C>A c.4082C>A (p.Ala1361Asp) c.4061C>A (p.Ala1354Asp) c.4043C>A (p.Ala1348Asp) c.4025C>A (p.Ala1342Asp) c.3986C>A (p.Ala1329Asp) c.3947C>A (p.Ala1316Asp) c.3671C>A (p.Ala1224Asp) c.3632C>A (p.Ala1211Asp) c.4022C>A (p.Ala1341Asp) c.3929C>A (p.Ala1310Asp) c.3404C>A (p.Ala1135Asp) c.3719C>A (p.Ala1240Asp) n.8291C>A | ClinVar gnomAD v4 |
3 | g.9475670C>G | CA351692347 | SETD5 | n.2863C>G c.4004C>G (p.Ala1335Gly) n.4897C>G n.2288C>G n.6705C>G n.6150C>G c.3908C>G (p.Ala1303Gly) c.*4054C>G (n.*4054C>G) c.*3977C>G (n.*3977C>G) c.*4282C>G (n.*4282C>G) c.*4013C>G (n.*4013C>G) c.3614C>G (p.Ala1205Gly) c.2722+514C>G c.3965C>G (p.Ala1322Gly) c.2944C>G n.1039C>G n.3249C>G n.4072C>G c.4082C>G (p.Ala1361Gly) c.4061C>G (p.Ala1354Gly) c.4043C>G (p.Ala1348Gly) c.4025C>G (p.Ala1342Gly) c.3986C>G (p.Ala1329Gly) c.3947C>G (p.Ala1316Gly) c.3671C>G (p.Ala1224Gly) c.3632C>G (p.Ala1211Gly) c.4022C>G (p.Ala1341Gly) c.3929C>G (p.Ala1310Gly) c.3404C>G (p.Ala1135Gly) c.3719C>G (p.Ala1240Gly) n.8291C>G | |
3 | g.9475670C>T | CA351692351 | SETD5 | n.2863C>T c.4004C>T (p.Ala1335Val) n.4897C>T n.2288C>T n.6705C>T n.6150C>T c.3908C>T (p.Ala1303Val) c.*4054C>T (n.*4054C>T) c.*3977C>T (n.*3977C>T) c.*4282C>T (n.*4282C>T) c.*4013C>T (n.*4013C>T) c.3614C>T (p.Ala1205Val) c.2722+514C>T c.3965C>T (p.Ala1322Val) c.2944C>T n.1039C>T n.3249C>T n.4072C>T c.4082C>T (p.Ala1361Val) c.4061C>T (p.Ala1354Val) c.4043C>T (p.Ala1348Val) c.4025C>T (p.Ala1342Val) c.3986C>T (p.Ala1329Val) c.3947C>T (p.Ala1316Val) c.3671C>T (p.Ala1224Val) c.3632C>T (p.Ala1211Val) c.4022C>T (p.Ala1341Val) c.3929C>T (p.Ala1310Val) c.3404C>T (p.Ala1135Val) c.3719C>T (p.Ala1240Val) n.8291C>T | |
3 | g.9475671C>A | CA432528838 | SETD5 | n.2864C>A c.4005C>A (p.Ala1335=) n.4898C>A n.2289C>A n.6706C>A n.6151C>A c.3909C>A (p.Ala1303=) c.*4055C>A (n.*4055C>A) c.*3978C>A (n.*3978C>A) c.*4283C>A (n.*4283C>A) c.*4014C>A (n.*4014C>A) c.3615C>A (p.Ala1205=) c.2722+515C>A c.3966C>A (p.Ala1322=) c.2945C>A n.1040C>A n.3250C>A n.4073C>A c.4083C>A (p.Ala1361=) c.4062C>A (p.Ala1354=) c.4044C>A (p.Ala1348=) c.4026C>A (p.Ala1342=) c.3987C>A (p.Ala1329=) c.3948C>A (p.Ala1316=) c.3672C>A (p.Ala1224=) c.3633C>A (p.Ala1211=) c.4023C>A (p.Ala1341=) c.3930C>A (p.Ala1310=) c.3405C>A (p.Ala1135=) c.3720C>A (p.Ala1240=) n.8292C>A | |
3 | g.9475671C>G | CA432528840 | SETD5 | n.2864C>G c.4005C>G (p.Ala1335=) n.4898C>G n.2289C>G n.6706C>G n.6151C>G c.3909C>G (p.Ala1303=) c.*4055C>G (n.*4055C>G) c.*3978C>G (n.*3978C>G) c.*4283C>G (n.*4283C>G) c.*4014C>G (n.*4014C>G) c.3615C>G (p.Ala1205=) c.2722+515C>G c.3966C>G (p.Ala1322=) c.2945C>G n.1040C>G n.3250C>G n.4073C>G c.4083C>G (p.Ala1361=) c.4062C>G (p.Ala1354=) c.4044C>G (p.Ala1348=) c.4026C>G (p.Ala1342=) c.3987C>G (p.Ala1329=) c.3948C>G (p.Ala1316=) c.3672C>G (p.Ala1224=) c.3633C>G (p.Ala1211=) c.4023C>G (p.Ala1341=) c.3930C>G (p.Ala1310=) c.3405C>G (p.Ala1135=) c.3720C>G (p.Ala1240=) n.8292C>G | gnomAD v4 |
3 | g.9475671C>T | CA432528841 | SETD5 | n.2864C>T c.4005C>T (p.Ala1335=) n.4898C>T n.2289C>T n.6706C>T n.6151C>T c.3909C>T (p.Ala1303=) c.*4055C>T (n.*4055C>T) c.*3978C>T (n.*3978C>T) c.*4283C>T (n.*4283C>T) c.*4014C>T (n.*4014C>T) c.3615C>T (p.Ala1205=) c.2722+515C>T c.3966C>T (p.Ala1322=) c.2945C>T n.1040C>T n.3250C>T n.4073C>T c.4083C>T (p.Ala1361=) c.4062C>T (p.Ala1354=) c.4044C>T (p.Ala1348=) c.4026C>T (p.Ala1342=) c.3987C>T (p.Ala1329=) c.3948C>T (p.Ala1316=) c.3672C>T (p.Ala1224=) c.3633C>T (p.Ala1211=) c.4023C>T (p.Ala1341=) c.3930C>T (p.Ala1310=) c.3405C>T (p.Ala1135=) c.3720C>T (p.Ala1240=) n.8292C>T | |
3 | g.9475672C>A | CA351692357 | SETD5 | n.2865C>A c.4006C>A (p.His1336Asn) n.4899C>A n.2290C>A n.6707C>A n.6152C>A c.3910C>A (p.His1304Asn) c.*4056C>A (n.*4056C>A) c.*3979C>A (n.*3979C>A) c.*4284C>A (n.*4284C>A) c.*4015C>A (n.*4015C>A) c.3616C>A (p.His1206Asn) c.2722+516C>A c.3967C>A (p.His1323Asn) c.2946C>A n.1041C>A n.3251C>A n.4074C>A c.4084C>A (p.His1362Asn) c.4063C>A (p.His1355Asn) c.4045C>A (p.His1349Asn) c.4027C>A (p.His1343Asn) c.3988C>A (p.His1330Asn) c.3949C>A (p.His1317Asn) c.3673C>A (p.His1225Asn) c.3634C>A (p.His1212Asn) c.4024C>A (p.His1342Asn) c.3931C>A (p.His1311Asn) c.3406C>A (p.His1136Asn) c.3721C>A (p.His1241Asn) n.8293C>A | |
3 | g.9475672C>G | CA351692358 | SETD5 | n.2865C>G c.4006C>G (p.His1336Asp) n.4899C>G n.2290C>G n.6707C>G n.6152C>G c.3910C>G (p.His1304Asp) c.*4056C>G (n.*4056C>G) c.*3979C>G (n.*3979C>G) c.*4284C>G (n.*4284C>G) c.*4015C>G (n.*4015C>G) c.3616C>G (p.His1206Asp) c.2722+516C>G c.3967C>G (p.His1323Asp) c.2946C>G n.1041C>G n.3251C>G n.4074C>G c.4084C>G (p.His1362Asp) c.4063C>G (p.His1355Asp) c.4045C>G (p.His1349Asp) c.4027C>G (p.His1343Asp) c.3988C>G (p.His1330Asp) c.3949C>G (p.His1317Asp) c.3673C>G (p.His1225Asp) c.3634C>G (p.His1212Asp) c.4024C>G (p.His1342Asp) c.3931C>G (p.His1311Asp) c.3406C>G (p.His1136Asp) c.3721C>G (p.His1241Asp) n.8293C>G | |
3 | g.9475672C>T | CA351692359 | SETD5 | n.2865C>T c.4006C>T (p.His1336Tyr) n.4899C>T n.2290C>T n.6707C>T n.6152C>T c.3910C>T (p.His1304Tyr) c.*4056C>T (n.*4056C>T) c.*3979C>T (n.*3979C>T) c.*4284C>T (n.*4284C>T) c.*4015C>T (n.*4015C>T) c.3616C>T (p.His1206Tyr) c.2722+516C>T c.3967C>T (p.His1323Tyr) c.2946C>T n.1041C>T n.3251C>T n.4074C>T c.4084C>T (p.His1362Tyr) c.4063C>T (p.His1355Tyr) c.4045C>T (p.His1349Tyr) c.4027C>T (p.His1343Tyr) c.3988C>T (p.His1330Tyr) c.3949C>T (p.His1317Tyr) c.3673C>T (p.His1225Tyr) c.3634C>T (p.His1212Tyr) c.4024C>T (p.His1342Tyr) c.3931C>T (p.His1311Tyr) c.3406C>T (p.His1136Tyr) c.3721C>T (p.His1241Tyr) n.8293C>T | gnomAD v4 |
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 |