Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.9475576T>ACA351691251SETD5n.2769T>A
c.3910T>A (p.Tyr1304Asn)
n.4803T>A
n.2194T>A
n.6611T>A
n.6056T>A
c.3814T>A (p.Tyr1272Asn)
c.*3960T>A (n.*3960T>A)
c.*3883T>A (n.*3883T>A)
c.*4188T>A (n.*4188T>A)
c.*3919T>A (n.*3919T>A)
c.3520T>A (p.Tyr1174Asn)
c.2722+420T>A
c.3871T>A (p.Tyr1291Asn)
c.2850T>A
n.945T>A
n.3155T>A
n.201T>A
n.3978T>A
c.3988T>A (p.Tyr1330Asn)
c.3967T>A (p.Tyr1323Asn)
c.3949T>A (p.Tyr1317Asn)
c.3931T>A (p.Tyr1311Asn)
c.3892T>A (p.Tyr1298Asn)
c.3853T>A (p.Tyr1285Asn)
c.3577T>A (p.Tyr1193Asn)
c.3538T>A (p.Tyr1180Asn)
c.3928T>A (p.Tyr1310Asn)
c.3835T>A (p.Tyr1279Asn)
c.3310T>A (p.Tyr1104Asn)
c.3625T>A (p.Tyr1209Asn)
n.8197T>A
3g.9475576T>CCA351691247SETD5n.2769T>C
c.3910T>C (p.Tyr1304His)
n.4803T>C
n.2194T>C
n.6611T>C
n.6056T>C
c.3814T>C (p.Tyr1272His)
c.*3960T>C (n.*3960T>C)
c.*3883T>C (n.*3883T>C)
c.*4188T>C (n.*4188T>C)
c.*3919T>C (n.*3919T>C)
c.3520T>C (p.Tyr1174His)
c.2722+420T>C
c.3871T>C (p.Tyr1291His)
c.2850T>C
n.945T>C
n.3155T>C
n.201T>C
n.3978T>C
c.3988T>C (p.Tyr1330His)
c.3967T>C (p.Tyr1323His)
c.3949T>C (p.Tyr1317His)
c.3931T>C (p.Tyr1311His)
c.3892T>C (p.Tyr1298His)
c.3853T>C (p.Tyr1285His)
c.3577T>C (p.Tyr1193His)
c.3538T>C (p.Tyr1180His)
c.3928T>C (p.Tyr1310His)
c.3835T>C (p.Tyr1279His)
c.3310T>C (p.Tyr1104His)
c.3625T>C (p.Tyr1209His)
n.8197T>C
 gnomAD v4
3g.9475576T>GCA351691243SETD5n.2769T>G
c.3910T>G (p.Tyr1304Asp)
n.4803T>G
n.2194T>G
n.6611T>G
n.6056T>G
c.3814T>G (p.Tyr1272Asp)
c.*3960T>G (n.*3960T>G)
c.*3883T>G (n.*3883T>G)
c.*4188T>G (n.*4188T>G)
c.*3919T>G (n.*3919T>G)
c.3520T>G (p.Tyr1174Asp)
c.2722+420T>G
c.3871T>G (p.Tyr1291Asp)
c.2850T>G
n.945T>G
n.3155T>G
n.201T>G
n.3978T>G
c.3988T>G (p.Tyr1330Asp)
c.3967T>G (p.Tyr1323Asp)
c.3949T>G (p.Tyr1317Asp)
c.3931T>G (p.Tyr1311Asp)
c.3892T>G (p.Tyr1298Asp)
c.3853T>G (p.Tyr1285Asp)
c.3577T>G (p.Tyr1193Asp)
c.3538T>G (p.Tyr1180Asp)
c.3928T>G (p.Tyr1310Asp)
c.3835T>G (p.Tyr1279Asp)
c.3310T>G (p.Tyr1104Asp)
c.3625T>G (p.Tyr1209Asp)
n.8197T>G
3g.9475576_9475578delinsTACCA1344742430SETD5n.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
3g.9475577A>CCA351691255SETD5n.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
3g.9475577A>GCA351691260SETD5n.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
3g.9475577A>TCA351691262SETD5n.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
3g.9475578_9475579delCA912791089SETD5n.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
3g.9475578C>ACA351691264SETD5n.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
3g.9475578C=CA1344742435SETD5n.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=
3g.9475578C>GCA351691267SETD5n.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
3g.9475578C>TCA432528520SETD5n.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
3g.9475579A=CA1344742438SETD5n.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=
3g.9475579A>CCA2239804SETD5n.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
3g.9475579A>GCA351691272SETD5n.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
3g.9475579A>TCA351691277SETD5n.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
3g.9475580G>ACA351691281SETD5n.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
3g.9475580G>CCA351691284SETD5n.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
3g.9475580G>TCA351691287SETD5n.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
3g.9475581T>ACA351691294SETD5n.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
3g.9475581T>CCA2239805SETD5n.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
3g.9475581T>GCA351691304SETD5n.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
3g.9475581T=CA1344742443SETD5n.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=
3g.9475582T>ACA351691309SETD5n.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
3g.9475582T>CCA351691312SETD5n.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
3g.9475582T>GCA351691308SETD5n.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
3g.9475583A=CA1344742446SETD5n.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=
3g.9475583A>CCA351691322SETD5n.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
3g.9475583A>GCA2239806SETD5n.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
3g.9475583A>TCA351691324SETD5n.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
3g.9475584T>ACA351691326SETD5n.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
3g.9475584T>CCA2239807SETD5n.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
3g.9475584T>GCA351691329SETD5n.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
3g.9475584T=CA1344742449SETD5n.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=
3g.9475585C>ACA2239808SETD5n.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
3g.9475585C=CA1344742452SETD5n.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=
3g.9475585C>GCA351691333SETD5n.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
3g.9475585C>TCA351691334SETD5n.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
3g.9475586G>ACA351691337SETD5n.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
3g.9475586G>CCA351691339SETD5n.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
3g.9475586G=CA1344742455SETD5n.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=
3g.9475586G>TCA351691340SETD5n.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
3g.9475587A>CCA432528557SETD5n.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
3g.9475587A>GCA432528559SETD5n.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
3g.9475587A>TCA432528560SETD5n.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
3g.9475588A>CCA351691349SETD5n.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
3g.9475588A>GCA351691342SETD5n.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
3g.9475588A>TCA351691348SETD5n.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
3g.9475589C>ACA351691351SETD5n.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
3g.9475589C>GCA351691353SETD5n.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
3g.9475589C>TCA351691355SETD5n.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
3g.9475590T>ACA432528568SETD5n.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
3g.9475590T>CCA432528569SETD5n.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
3g.9475590T>GCA432528570SETD5n.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
3g.9475591A=CA1344742458SETD5n.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=
3g.9475591A>CCA351691360SETD5n.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
3g.9475591A>GCA2239809SETD5n.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
3g.9475591A>TCA351691386SETD5n.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
3g.9475592C>ACA351691394SETD5n.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
3g.9475592C>GCA351691402SETD5n.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
3g.9475592C>TCA351691405SETD5n.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
3g.9475593T>ACA432528581SETD5n.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
3g.9475593T>CCA432528582SETD5n.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
3g.9475593T>GCA432528583SETD5n.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
3g.9475594G>ACA351691411SETD5n.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
3g.9475594G>CCA351691432SETD5n.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
3g.9475594G>TCA351691436SETD5n.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
3g.9475595C>ACA351691439SETD5n.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
3g.9475595C=CA1344742460SETD5n.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=
3g.9475595C>GCA351691441SETD5n.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
3g.9475595C>TCA2239810SETD5n.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
3g.9475596A>CCA432528592SETD5n.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
3g.9475596A>GCA432528593SETD5n.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
3g.9475596A>TCA432528594SETD5n.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
3g.9475597C>ACA351691452SETD5n.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
3g.9475597C>GCA351691451SETD5n.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
3g.9475597C>TCA432528596SETD5n.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
3g.9475598T>ACA351691462SETD5n.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
3g.9475598T>CCA351691454SETD5n.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
3g.9475598T>GCA351691455SETD5n.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
3g.9475599G>ACA432528604SETD5n.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
3g.9475599G>CCA432528605SETD5n.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
3g.9475599G=CA1344742463SETD5n.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=
3g.9475599G>TCA432528602SETD5n.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
3g.9475600A>CCA432528607SETD5n.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
3g.9475600A>GCA351691468SETD5n.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
3g.9475600A>TCA351691471SETD5n.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
3g.9475601G>ACA69951918SETD5n.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
3g.9475601G>CCA351691474SETD5n.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
3g.9475601G=CA1344742466SETD5n.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=
3g.9475601G>TCA351691480SETD5n.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
3g.9475602A>CCA351691483SETD5n.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
3g.9475602A>GCA432528613SETD5n.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
3g.9475602A>TCA351691487SETD5n.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
3g.9475603C>ACA351691491SETD5n.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
3g.9475603C>GCA351691492SETD5n.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
3g.9475603C>TCA351691494SETD5n.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
3g.9475604C>ACA351691516SETD5n.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
3g.9475604C=CA1344742470SETD5n.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=
3g.9475604C>GCA2239812SETD5n.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
3g.9475604C>TCA2239811SETD5n.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
3g.9475605T>ACA432528622SETD5n.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
3g.9475605T>CCA432528625SETD5n.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
3g.9475605T>GCA432528623SETD5n.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
3g.9475606G>ACA351691527SETD5n.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
3g.9475606G>CCA351691538SETD5n.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
3g.9475606G>TCA351691544SETD5n.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
3g.9475607G>ACA351691550SETD5n.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
3g.9475607G>CCA351691551SETD5n.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
3g.9475607G>TCA351691553SETD5n.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
3g.9475608A>CCA432528633SETD5n.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
3g.9475608A>GCA432528634SETD5n.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
3g.9475608A>TCA432528635SETD5n.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
3g.9475609A=CA1344742473SETD5n.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=
3g.9475609A>CCA351691559SETD5n.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
3g.9475609A>GCA351691561SETD5n.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
3g.9475609A>TCA351691563SETD5n.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
3g.9475610A=CA1344742475SETD5n.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=
3g.9475610A>CCA351691576SETD5n.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
3g.9475610A>GCA351691579SETD5n.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
3g.9475610A>TCA351691580SETD5n.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
3g.9475611C>ACA351691582SETD5n.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
3g.9475611C>GCA351691584SETD5n.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
3g.9475611C>TCA432528641SETD5n.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
3g.9475617dupCA645526497SETD5n.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
3g.9475617delCA645526496SETD5n.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
3g.9475612C>ACA351691591SETD5n.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
3g.9475612C=CA1344742486SETD5n.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=
3g.9475612C>GCA2239813SETD5n.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
3g.9475612C>TCA351691593SETD5n.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
3g.9475613C>ACA351691596SETD5n.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
3g.9475613C>GCA351691603SETD5n.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
3g.9475613C>TCA351691606SETD5n.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
3g.9475614C>ACA432528649SETD5n.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
3g.9475614C>GCA432528650SETD5n.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
3g.9475614C>TCA432528651SETD5n.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
3g.9475615C>ACA2239814SETD5n.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
3g.9475615C=CA1344742490SETD5n.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=
3g.9475615C>GCA2239815SETD5n.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
3g.9475615C>TCA2239816SETD5n.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
3g.9475616C>ACA351691621SETD5n.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
3g.9475616C=CA1344742494SETD5n.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=
3g.9475616C>GCA2239817SETD5n.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
3g.9475616C>TCA351691641SETD5n.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
3g.9475616_9475618delinsCCTCA1344742495SETD5n.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
3g.9475617C>ACA69951935SETD5n.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
3g.9475617C=CA1344742503SETD5n.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=
3g.9475617C>GCA2239819SETD5n.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
3g.9475617C>TCA2239818SETD5n.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
3g.9475617_9475618delinsCTCA1344742507SETD5n.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
3g.9475620_9475621delCA1139657878SETD5n.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
3g.9475618delCA251338SETD5n.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
3g.9475618T>ACA351691658SETD5n.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
3g.9475618T>CCA351691676SETD5n.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
3g.9475618T>GCA351691693SETD5n.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
3g.9475618T=CA1344742513SETD5n.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=
3g.9475619C>ACA351691704SETD5n.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
3g.9475619C>GCA351691715SETD5n.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
3g.9475619C>TCA351691730SETD5n.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
3g.9475620T>ACA432528666SETD5n.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
3g.9475620T>CCA432528665SETD5n.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
3g.9475620T>GCA432528664SETD5n.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
3g.9475621C>ACA351691743SETD5n.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
3g.9475621C=CA1344742527SETD5n.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=
3g.9475621C>GCA351691748SETD5n.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
3g.9475621C>TCA2239820SETD5n.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
3g.9475622A>CCA351691761SETD5n.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
3g.9475622A>GCA351691762SETD5n.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
3g.9475622A>TCA351691767SETD5n.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
3g.9475623C>ACA351691768SETD5n.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
3g.9475623C=CA1344742531SETD5n.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=
3g.9475623C>GCA351691770SETD5n.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
3g.9475623C>TCA69951944SETD5n.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
3g.9475624G>ACA2239821SETD5n.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
3g.9475624G>CCA351691774SETD5n.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
3g.9475624G=CA1344742536SETD5n.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=
3g.9475624G>TCA351691776SETD5n.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
3g.9475625G>ACA351691788SETD5n.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
3g.9475625G>CCA351691789SETD5n.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
3g.9475625G=CA1344742541SETD5n.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=
3g.9475625G>TCA351691790SETD5n.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
3g.9475626T>ACA432528690SETD5n.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
3g.9475626T>CCA432528688SETD5n.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
3g.9475626T>GCA432528689SETD5n.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
3g.9475627T>ACA351691801SETD5n.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
3g.9475627T>CCA351691798SETD5n.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
3g.9475627T>GCA351691795SETD5n.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
3g.9475628C>ACA69951948SETD5n.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
3g.9475628C=CA1344742544SETD5n.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=
3g.9475628C>GCA351691812SETD5n.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
3g.9475628C>TCA351691820SETD5n.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
3g.9475629T>ACA432528692SETD5n.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
3g.9475629T>CCA432528694SETD5n.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
3g.9475629T>GCA432528695SETD5n.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
3g.9475630T>ACA351691825SETD5n.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
3g.9475630T>CCA351691826SETD5n.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
3g.9475630T>GCA351691827SETD5n.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
3g.9475631C>ACA351691829SETD5n.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
3g.9475631C=CA1344742547SETD5n.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=
3g.9475631C>GCA351691844SETD5n.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
3g.9475631C>TCA351691834SETD5n.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
3g.9475632A>CCA432528708SETD5n.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
3g.9475632A>GCA432528703SETD5n.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
3g.9475632A>TCA432528706SETD5n.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
3g.9475633G>ACA351691849SETD5n.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
3g.9475633G>CCA351691851SETD5n.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
3g.9475633G=CA1344742550SETD5n.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=
3g.9475633G>TCA351691853SETD5n.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
3g.9475634A>CCA351691860SETD5n.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
3g.9475634A>GCA351691861SETD5n.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
3g.9475634A>TCA351691862SETD5n.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
3g.9475635A>CCA351691867SETD5n.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
3g.9475635A>GCA432528721SETD5n.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
3g.9475635A>TCA351691873SETD5n.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
3g.9475636T>ACA351691877SETD5n.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
3g.9475636T>CCA351691878SETD5n.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
3g.9475636T>GCA351691880SETD5n.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
3g.9475637C>ACA351691922SETD5n.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
3g.9475637C>GCA351691921SETD5n.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
3g.9475637C>TCA351691917SETD5n.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
3g.9475638A=CA1344742555SETD5n.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=
3g.9475638A>CCA432528734SETD5n.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
3g.9475638A>GCA432528735SETD5n.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
3g.9475638A>TCA432528738SETD5n.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
3g.9475639T>ACA351691924SETD5n.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
3g.9475639T>CCA351691927SETD5n.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
3g.9475639T>GCA351691932SETD5n.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
3g.9475640C>ACA351691937SETD5n.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
3g.9475640C>GCA351691939SETD5n.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
3g.9475640C>TCA351691943SETD5n.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
3g.9475641C>ACA432528747SETD5n.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
3g.9475641C>GCA432528750SETD5n.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
3g.9475641C>TCA432528751SETD5n.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
3g.9475642C>ACA351691969SETD5n.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
3g.9475642C=CA1344742559SETD5n.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=
3g.9475642C>GCA351691952SETD5n.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
3g.9475642C>TCA351691947SETD5n.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
3g.9475643T>ACA351691977SETD5n.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
3g.9475643T>CCA351691980SETD5n.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
3g.9475643T>GCA351691983SETD5n.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
3g.9475644C>ACA432528755SETD5n.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
3g.9475644C=CA1344742564SETD5n.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=
3g.9475644C>GCA69951951SETD5n.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
3g.9475644C>TCA432528756SETD5n.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
3g.9475645T>ACA351691985SETD5n.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
3g.9475645T>CCA351691990SETD5n.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
3g.9475645T>GCA351691993SETD5n.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
3g.9475646C>ACA351692001SETD5n.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
3g.9475646C>GCA351692011SETD5n.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
3g.9475646C>TCA351692007SETD5n.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
3g.9475647T>ACA432528765SETD5n.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
3g.9475647T>CCA432528766SETD5n.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
3g.9475647T>GCA432528767SETD5n.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
3g.9475648T>ACA351692014SETD5n.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
3g.9475648T>CCA351692016SETD5n.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
3g.9475648T>GCA351692019SETD5n.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
3g.9475649C>ACA351692023SETD5n.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
3g.9475649C>GCA351692027SETD5n.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
3g.9475649C>TCA351692029SETD5n.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
3g.9475650C>ACA432528775SETD5n.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
3g.9475650C=CA1344742566SETD5n.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=
3g.9475650C>GCA432528776SETD5n.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
3g.9475650C>TCA432528777SETD5n.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
3g.9475651A>CCA351692031SETD5n.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
3g.9475651A>GCA351692034SETD5n.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
3g.9475651A>TCA351692037SETD5n.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
3g.9475652C>ACA351692059SETD5n.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
3g.9475652C=CA1344742570SETD5n.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=
3g.9475652C>GCA351692063SETD5n.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
3g.9475652C>TCA2239822SETD5n.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
3g.9475653G>ACA2239823SETD5n.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
3g.9475653G>CCA432528793SETD5n.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
3g.9475653G=CA1344742576SETD5n.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=
3g.9475653G>TCA432528792SETD5n.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
3g.9475654T>ACA351692076SETD5n.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
3g.9475654T>CCA351692071SETD5n.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
3g.9475654T>GCA351692081SETD5n.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
3g.9475655C>ACA351692104SETD5n.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
3g.9475655C=CA1344742580SETD5n.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=
3g.9475655C>GCA351692108SETD5n.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
3g.9475655C>TCA351692106SETD5n.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
3g.9475656C>ACA2239824SETD5n.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
3g.9475656C=CA1344742584SETD5n.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=
3g.9475656C>GCA432528797SETD5n.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
3g.9475656C>TCA432528798SETD5n.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
3g.9475657T>ACA351692120SETD5n.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
3g.9475657T>CCA351692114SETD5n.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
3g.9475657T>GCA351692117SETD5n.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
3g.9475658A=CA1344742588SETD5n.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=
3g.9475658A>CCA351692128SETD5n.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
3g.9475658A>GCA351692132SETD5n.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
3g.9475658A>TCA69951959SETD5n.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
3g.9475659T>ACA351692154SETD5n.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
3g.9475659T>CCA432528805SETD5n.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
3g.9475659T>GCA351692159SETD5n.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
3g.9475660T>ACA351692166SETD5n.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
3g.9475660T>CCA351692170SETD5n.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
3g.9475660T>GCA351692174SETD5n.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
3g.9475660T=CA1344742592SETD5n.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=
3g.9475661C>ACA351692181SETD5n.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
3g.9475661C=CA1344742596SETD5n.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=
3g.9475661C>GCA351692188SETD5n.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
3g.9475661C>TCA351692195SETD5n.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
3g.9475662C>ACA432528810SETD5n.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
3g.9475662C>GCA432528811SETD5n.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
3g.9475662C>TCA432528812SETD5n.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
3g.9475663A=CA1344742601SETD5n.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=
3g.9475663A>CCA2239825SETD5n.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
3g.9475663A>GCA351692237SETD5n.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
3g.9475663A>TCA351692234SETD5n.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
3g.9475664G>ACA351692245SETD5n.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
3g.9475664G>CCA351692247SETD5n.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
3g.9475664G>TCA351692251SETD5n.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
3g.9475665C>ACA351692261SETD5n.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
3g.9475665C=CA1344742606SETD5n.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=
3g.9475665C>GCA351692270SETD5n.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
3g.9475665C>TCA2239826SETD5n.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
3g.9475666C>ACA351692277SETD5n.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
3g.9475666C=CA1344742610SETD5n.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=
3g.9475666C>GCA351692279SETD5n.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
3g.9475666C>TCA351692284SETD5n.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
3g.9475667C>ACA351692289SETD5n.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
3g.9475667C>GCA351692295SETD5n.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
3g.9475667C>TCA351692328SETD5n.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
3g.9475668C>ACA432528830SETD5n.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
3g.9475668C=CA1344742617SETD5n.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=
3g.9475668C>GCA432528831SETD5n.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
3g.9475668C>TCA2239827SETD5n.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
3g.9475669G>ACA2239828SETD5n.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
3g.9475669G>CCA351692339SETD5n.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
3g.9475669G=CA1344742624SETD5n.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=
3g.9475669G>TCA2239829SETD5n.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
3g.9475670C>ACA351692343SETD5n.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
3g.9475670C>GCA351692347SETD5n.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
3g.9475670C>TCA351692351SETD5n.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
3g.9475671C>ACA432528838SETD5n.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
3g.9475671C>GCA432528840SETD5n.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
3g.9475671C>TCA432528841SETD5n.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
3g.9475672C>ACA351692357SETD5n.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
3g.9475672C>GCA351692358SETD5n.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
3g.9475672C>TCA351692359SETD5n.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
3g.9475673A=CA1344742630SETD5n.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=
3g.9475673A>CCA351692362SETD5n.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
3g.9475673A>GCA351692363SETD5n.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
3g.9475673A>TCA351692366SETD5n.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
3g.9475674C>ACA351692373SETD5n.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
3g.9475674C>GCA351692375SETD5n.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
3g.9475674C>TCA432528847SETD5n.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
3g.9475675C>ACA351692429SETD5n.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
3g.9475675C>GCA351692425SETD5n.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
3g.9475675C>TCA351692379SETD5n.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
3g.9475676C>ACA351692441SETD5n.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
3g.9475676C>GCA351692447SETD5n.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
3g.9475676C>TCA351692474SETD5n.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

Number of alleles fetched