Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.9475534_9475535delCA2573050866SETD5n.2727_2728del
c.3868_3869del (p.Ser1290PhefsTer?)
n.4761_4762del
n.2152_2153del
n.6569_6570del
n.6014_6015del
c.3772_3773del (p.Ser1258PhefsTer?)
c.*3918_*3919del (n.*3918_*3919del)
c.*3841_*3842del (n.*3841_*3842del)
c.*4146_*4147del (n.*4146_*4147del)
c.*3877_*3878del (n.*3877_*3878del)
c.3478_3479del (p.Ser1160PhefsTer?)
c.2722+378_2722+379del
c.3829_3830del (p.Ser1277PhefsTer?)
c.2808_2809del
n.903_904del
n.3113_3114del
n.159_160del
n.3936_3937del
c.3946_3947del (p.Ser1316PhefsTer?)
c.3925_3926del (p.Ser1309PhefsTer?)
c.3907_3908del (p.Ser1303PhefsTer?)
c.3889_3890del (p.Ser1297PhefsTer?)
c.3850_3851del (p.Ser1284PhefsTer?)
c.3811_3812del (p.Ser1271PhefsTer?)
c.3535_3536del (p.Ser1179PhefsTer?)
c.3496_3497del (p.Ser1166PhefsTer?)
c.3886_3887del (p.Ser1296PhefsTer?)
c.3793_3794del (p.Ser1265PhefsTer?)
c.3268_3269del (p.Ser1090PhefsTer?)
c.3583_3584del (p.Ser1195PhefsTer?)
n.8155_8156del
 ClinVar
3g.9475534A>CCA351690888SETD5n.2727A>C
c.3868A>C (p.Ser1290Arg)
n.4761A>C
n.2152A>C
n.6569A>C
n.6014A>C
c.3772A>C (p.Ser1258Arg)
c.*3918A>C (n.*3918A>C)
c.*3841A>C (n.*3841A>C)
c.*4146A>C (n.*4146A>C)
c.*3877A>C (n.*3877A>C)
c.3478A>C (p.Ser1160Arg)
c.2722+378A>C
c.3829A>C (p.Ser1277Arg)
c.2808A>C
n.903A>C
n.3113A>C
n.159A>C
n.3936A>C
c.3946A>C (p.Ser1316Arg)
c.3925A>C (p.Ser1309Arg)
c.3907A>C (p.Ser1303Arg)
c.3889A>C (p.Ser1297Arg)
c.3850A>C (p.Ser1284Arg)
c.3811A>C (p.Ser1271Arg)
c.3535A>C (p.Ser1179Arg)
c.3496A>C (p.Ser1166Arg)
c.3886A>C (p.Ser1296Arg)
c.3793A>C (p.Ser1265Arg)
c.3268A>C (p.Ser1090Arg)
c.3583A>C (p.Ser1195Arg)
n.8155A>C
3g.9475534A>GCA351690890SETD5n.2727A>G
c.3868A>G (p.Ser1290Gly)
n.4761A>G
n.2152A>G
n.6569A>G
n.6014A>G
c.3772A>G (p.Ser1258Gly)
c.*3918A>G (n.*3918A>G)
c.*3841A>G (n.*3841A>G)
c.*4146A>G (n.*4146A>G)
c.*3877A>G (n.*3877A>G)
c.3478A>G (p.Ser1160Gly)
c.2722+378A>G
c.3829A>G (p.Ser1277Gly)
c.2808A>G
n.903A>G
n.3113A>G
n.159A>G
n.3936A>G
c.3946A>G (p.Ser1316Gly)
c.3925A>G (p.Ser1309Gly)
c.3907A>G (p.Ser1303Gly)
c.3889A>G (p.Ser1297Gly)
c.3850A>G (p.Ser1284Gly)
c.3811A>G (p.Ser1271Gly)
c.3535A>G (p.Ser1179Gly)
c.3496A>G (p.Ser1166Gly)
c.3886A>G (p.Ser1296Gly)
c.3793A>G (p.Ser1265Gly)
c.3268A>G (p.Ser1090Gly)
c.3583A>G (p.Ser1195Gly)
n.8155A>G
3g.9475534A>TCA351690892SETD5n.2727A>T
c.3868A>T (p.Ser1290Cys)
n.4761A>T
n.2152A>T
n.6569A>T
n.6014A>T
c.3772A>T (p.Ser1258Cys)
c.*3918A>T (n.*3918A>T)
c.*3841A>T (n.*3841A>T)
c.*4146A>T (n.*4146A>T)
c.*3877A>T (n.*3877A>T)
c.3478A>T (p.Ser1160Cys)
c.2722+378A>T
c.3829A>T (p.Ser1277Cys)
c.2808A>T
n.903A>T
n.3113A>T
n.159A>T
n.3936A>T
c.3946A>T (p.Ser1316Cys)
c.3925A>T (p.Ser1309Cys)
c.3907A>T (p.Ser1303Cys)
c.3889A>T (p.Ser1297Cys)
c.3850A>T (p.Ser1284Cys)
c.3811A>T (p.Ser1271Cys)
c.3535A>T (p.Ser1179Cys)
c.3496A>T (p.Ser1166Cys)
c.3886A>T (p.Ser1296Cys)
c.3793A>T (p.Ser1265Cys)
c.3268A>T (p.Ser1090Cys)
c.3583A>T (p.Ser1195Cys)
n.8155A>T
3g.9475535G>ACA2239799SETD5n.2728G>A
c.3869G>A (p.Ser1290Asn)
n.4762G>A
n.2153G>A
n.6570G>A
n.6015G>A
c.3773G>A (p.Ser1258Asn)
c.*3919G>A (n.*3919G>A)
c.*3842G>A (n.*3842G>A)
c.*4147G>A (n.*4147G>A)
c.*3878G>A (n.*3878G>A)
c.3479G>A (p.Ser1160Asn)
c.2722+379G>A
c.3830G>A (p.Ser1277Asn)
c.2809G>A
n.904G>A
n.3114G>A
n.160G>A
n.3937G>A
c.3947G>A (p.Ser1316Asn)
c.3926G>A (p.Ser1309Asn)
c.3908G>A (p.Ser1303Asn)
c.3890G>A (p.Ser1297Asn)
c.3851G>A (p.Ser1284Asn)
c.3812G>A (p.Ser1271Asn)
c.3536G>A (p.Ser1179Asn)
c.3497G>A (p.Ser1166Asn)
c.3887G>A (p.Ser1296Asn)
c.3794G>A (p.Ser1265Asn)
c.3269G>A (p.Ser1090Asn)
c.3584G>A (p.Ser1195Asn)
n.8156G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475535G>CCA351690894SETD5n.2728G>C
c.3869G>C (p.Ser1290Thr)
n.4762G>C
n.2153G>C
n.6570G>C
n.6015G>C
c.3773G>C (p.Ser1258Thr)
c.*3919G>C (n.*3919G>C)
c.*3842G>C (n.*3842G>C)
c.*4147G>C (n.*4147G>C)
c.*3878G>C (n.*3878G>C)
c.3479G>C (p.Ser1160Thr)
c.2722+379G>C
c.3830G>C (p.Ser1277Thr)
c.2809G>C
n.904G>C
n.3114G>C
n.160G>C
n.3937G>C
c.3947G>C (p.Ser1316Thr)
c.3926G>C (p.Ser1309Thr)
c.3908G>C (p.Ser1303Thr)
c.3890G>C (p.Ser1297Thr)
c.3851G>C (p.Ser1284Thr)
c.3812G>C (p.Ser1271Thr)
c.3536G>C (p.Ser1179Thr)
c.3497G>C (p.Ser1166Thr)
c.3887G>C (p.Ser1296Thr)
c.3794G>C (p.Ser1265Thr)
c.3269G>C (p.Ser1090Thr)
c.3584G>C (p.Ser1195Thr)
n.8156G>C
 dbSNP
3g.9475535G=CA1344742348SETD5n.2728G=
c.3869G= (p.Ser1290=)
n.4762G=
n.2153G=
n.6570G=
n.6015G=
c.3773G= (p.Ser1258=)
c.*3919G= (n.*3919G=)
c.*3842G= (n.*3842G=)
c.*4147G= (n.*4147G=)
c.*3878G= (n.*3878G=)
c.3479G= (p.Ser1160=)
c.2722+379G=
c.3830G= (p.Ser1277=)
c.2809G=
n.904G=
n.3114G=
n.160G=
n.3937G=
c.3947G= (p.Ser1316=)
c.3926G= (p.Ser1309=)
c.3908G= (p.Ser1303=)
c.3890G= (p.Ser1297=)
c.3851G= (p.Ser1284=)
c.3812G= (p.Ser1271=)
c.3536G= (p.Ser1179=)
c.3497G= (p.Ser1166=)
c.3887G= (p.Ser1296=)
c.3794G= (p.Ser1265=)
c.3269G= (p.Ser1090=)
c.3584G= (p.Ser1195=)
n.8156G=
3g.9475535G>TCA351690897SETD5n.2728G>T
c.3869G>T (p.Ser1290Ile)
n.4762G>T
n.2153G>T
n.6570G>T
n.6015G>T
c.3773G>T (p.Ser1258Ile)
c.*3919G>T (n.*3919G>T)
c.*3842G>T (n.*3842G>T)
c.*4147G>T (n.*4147G>T)
c.*3878G>T (n.*3878G>T)
c.3479G>T (p.Ser1160Ile)
c.2722+379G>T
c.3830G>T (p.Ser1277Ile)
c.2809G>T
n.904G>T
n.3114G>T
n.160G>T
n.3937G>T
c.3947G>T (p.Ser1316Ile)
c.3926G>T (p.Ser1309Ile)
c.3908G>T (p.Ser1303Ile)
c.3890G>T (p.Ser1297Ile)
c.3851G>T (p.Ser1284Ile)
c.3812G>T (p.Ser1271Ile)
c.3536G>T (p.Ser1179Ile)
c.3497G>T (p.Ser1166Ile)
c.3887G>T (p.Ser1296Ile)
c.3794G>T (p.Ser1265Ile)
c.3269G>T (p.Ser1090Ile)
c.3584G>T (p.Ser1195Ile)
n.8156G>T
3g.9475536T>ACA351690901SETD5n.2729T>A
c.3870T>A (p.Ser1290Arg)
n.4763T>A
n.2154T>A
n.6571T>A
n.6016T>A
c.3774T>A (p.Ser1258Arg)
c.*3920T>A (n.*3920T>A)
c.*3843T>A (n.*3843T>A)
c.*4148T>A (n.*4148T>A)
c.*3879T>A (n.*3879T>A)
c.3480T>A (p.Ser1160Arg)
c.2722+380T>A
c.3831T>A (p.Ser1277Arg)
c.2810T>A
n.905T>A
n.3115T>A
n.161T>A
n.3938T>A
c.3948T>A (p.Ser1316Arg)
c.3927T>A (p.Ser1309Arg)
c.3909T>A (p.Ser1303Arg)
c.3891T>A (p.Ser1297Arg)
c.3852T>A (p.Ser1284Arg)
c.3813T>A (p.Ser1271Arg)
c.3537T>A (p.Ser1179Arg)
c.3498T>A (p.Ser1166Arg)
c.3888T>A (p.Ser1296Arg)
c.3795T>A (p.Ser1265Arg)
c.3270T>A (p.Ser1090Arg)
c.3585T>A (p.Ser1195Arg)
n.8157T>A
3g.9475536T>CCA432528405SETD5n.2729T>C
c.3870T>C (p.Ser1290=)
n.4763T>C
n.2154T>C
n.6571T>C
n.6016T>C
c.3774T>C (p.Ser1258=)
c.*3920T>C (n.*3920T>C)
c.*3843T>C (n.*3843T>C)
c.*4148T>C (n.*4148T>C)
c.*3879T>C (n.*3879T>C)
c.3480T>C (p.Ser1160=)
c.2722+380T>C
c.3831T>C (p.Ser1277=)
c.2810T>C
n.905T>C
n.3115T>C
n.161T>C
n.3938T>C
c.3948T>C (p.Ser1316=)
c.3927T>C (p.Ser1309=)
c.3909T>C (p.Ser1303=)
c.3891T>C (p.Ser1297=)
c.3852T>C (p.Ser1284=)
c.3813T>C (p.Ser1271=)
c.3537T>C (p.Ser1179=)
c.3498T>C (p.Ser1166=)
c.3888T>C (p.Ser1296=)
c.3795T>C (p.Ser1265=)
c.3270T>C (p.Ser1090=)
c.3585T>C (p.Ser1195=)
n.8157T>C
3g.9475536T>GCA351690902SETD5n.2729T>G
c.3870T>G (p.Ser1290Arg)
n.4763T>G
n.2154T>G
n.6571T>G
n.6016T>G
c.3774T>G (p.Ser1258Arg)
c.*3920T>G (n.*3920T>G)
c.*3843T>G (n.*3843T>G)
c.*4148T>G (n.*4148T>G)
c.*3879T>G (n.*3879T>G)
c.3480T>G (p.Ser1160Arg)
c.2722+380T>G
c.3831T>G (p.Ser1277Arg)
c.2810T>G
n.905T>G
n.3115T>G
n.161T>G
n.3938T>G
c.3948T>G (p.Ser1316Arg)
c.3927T>G (p.Ser1309Arg)
c.3909T>G (p.Ser1303Arg)
c.3891T>G (p.Ser1297Arg)
c.3852T>G (p.Ser1284Arg)
c.3813T>G (p.Ser1271Arg)
c.3537T>G (p.Ser1179Arg)
c.3498T>G (p.Ser1166Arg)
c.3888T>G (p.Ser1296Arg)
c.3795T>G (p.Ser1265Arg)
c.3270T>G (p.Ser1090Arg)
c.3585T>G (p.Ser1195Arg)
n.8157T>G
3g.9475537T>ACA351690903SETD5n.2730T>A
c.3871T>A (p.Ser1291Thr)
n.4764T>A
n.2155T>A
n.6572T>A
n.6017T>A
c.3775T>A (p.Ser1259Thr)
c.*3921T>A (n.*3921T>A)
c.*3844T>A (n.*3844T>A)
c.*4149T>A (n.*4149T>A)
c.*3880T>A (n.*3880T>A)
c.3481T>A (p.Ser1161Thr)
c.2722+381T>A
c.3832T>A (p.Ser1278Thr)
c.2811T>A
n.906T>A
n.3116T>A
n.162T>A
n.3939T>A
c.3949T>A (p.Ser1317Thr)
c.3928T>A (p.Ser1310Thr)
c.3910T>A (p.Ser1304Thr)
c.3892T>A (p.Ser1298Thr)
c.3853T>A (p.Ser1285Thr)
c.3814T>A (p.Ser1272Thr)
c.3538T>A (p.Ser1180Thr)
c.3499T>A (p.Ser1167Thr)
c.3889T>A (p.Ser1297Thr)
c.3796T>A (p.Ser1266Thr)
c.3271T>A (p.Ser1091Thr)
c.3586T>A (p.Ser1196Thr)
n.8158T>A
3g.9475537T>CCA351690905SETD5n.2730T>C
c.3871T>C (p.Ser1291Pro)
n.4764T>C
n.2155T>C
n.6572T>C
n.6017T>C
c.3775T>C (p.Ser1259Pro)
c.*3921T>C (n.*3921T>C)
c.*3844T>C (n.*3844T>C)
c.*4149T>C (n.*4149T>C)
c.*3880T>C (n.*3880T>C)
c.3481T>C (p.Ser1161Pro)
c.2722+381T>C
c.3832T>C (p.Ser1278Pro)
c.2811T>C
n.906T>C
n.3116T>C
n.162T>C
n.3939T>C
c.3949T>C (p.Ser1317Pro)
c.3928T>C (p.Ser1310Pro)
c.3910T>C (p.Ser1304Pro)
c.3892T>C (p.Ser1298Pro)
c.3853T>C (p.Ser1285Pro)
c.3814T>C (p.Ser1272Pro)
c.3538T>C (p.Ser1180Pro)
c.3499T>C (p.Ser1167Pro)
c.3889T>C (p.Ser1297Pro)
c.3796T>C (p.Ser1266Pro)
c.3271T>C (p.Ser1091Pro)
c.3586T>C (p.Ser1196Pro)
n.8158T>C
 gnomAD v4
3g.9475537T>GCA351690906SETD5n.2730T>G
c.3871T>G (p.Ser1291Ala)
n.4764T>G
n.2155T>G
n.6572T>G
n.6017T>G
c.3775T>G (p.Ser1259Ala)
c.*3921T>G (n.*3921T>G)
c.*3844T>G (n.*3844T>G)
c.*4149T>G (n.*4149T>G)
c.*3880T>G (n.*3880T>G)
c.3481T>G (p.Ser1161Ala)
c.2722+381T>G
c.3832T>G (p.Ser1278Ala)
c.2811T>G
n.906T>G
n.3116T>G
n.162T>G
n.3939T>G
c.3949T>G (p.Ser1317Ala)
c.3928T>G (p.Ser1310Ala)
c.3910T>G (p.Ser1304Ala)
c.3892T>G (p.Ser1298Ala)
c.3853T>G (p.Ser1285Ala)
c.3814T>G (p.Ser1272Ala)
c.3538T>G (p.Ser1180Ala)
c.3499T>G (p.Ser1167Ala)
c.3889T>G (p.Ser1297Ala)
c.3796T>G (p.Ser1266Ala)
c.3271T>G (p.Ser1091Ala)
c.3586T>G (p.Ser1196Ala)
n.8158T>G
3g.9475538C>ACA351690908SETD5n.2731C>A
c.3872C>A (p.Ser1291Tyr)
n.4765C>A
n.2156C>A
n.6573C>A
n.6018C>A
c.3776C>A (p.Ser1259Tyr)
c.*3922C>A (n.*3922C>A)
c.*3845C>A (n.*3845C>A)
c.*4150C>A (n.*4150C>A)
c.*3881C>A (n.*3881C>A)
c.3482C>A (p.Ser1161Tyr)
c.2722+382C>A
c.3833C>A (p.Ser1278Tyr)
c.2812C>A
n.907C>A
n.3117C>A
n.163C>A
n.3940C>A
c.3950C>A (p.Ser1317Tyr)
c.3929C>A (p.Ser1310Tyr)
c.3911C>A (p.Ser1304Tyr)
c.3893C>A (p.Ser1298Tyr)
c.3854C>A (p.Ser1285Tyr)
c.3815C>A (p.Ser1272Tyr)
c.3539C>A (p.Ser1180Tyr)
c.3500C>A (p.Ser1167Tyr)
c.3890C>A (p.Ser1297Tyr)
c.3797C>A (p.Ser1266Tyr)
c.3272C>A (p.Ser1091Tyr)
c.3587C>A (p.Ser1196Tyr)
n.8159C>A
3g.9475538C=CA1344742351SETD5n.2731C=
c.3872C= (p.Ser1291=)
n.4765C=
n.2156C=
n.6573C=
n.6018C=
c.3776C= (p.Ser1259=)
c.*3922C= (n.*3922C=)
c.*3845C= (n.*3845C=)
c.*4150C= (n.*4150C=)
c.*3881C= (n.*3881C=)
c.3482C= (p.Ser1161=)
c.2722+382C=
c.3833C= (p.Ser1278=)
c.2812C=
n.907C=
n.3117C=
n.163C=
n.3940C=
c.3950C= (p.Ser1317=)
c.3929C= (p.Ser1310=)
c.3911C= (p.Ser1304=)
c.3893C= (p.Ser1298=)
c.3854C= (p.Ser1285=)
c.3815C= (p.Ser1272=)
c.3539C= (p.Ser1180=)
c.3500C= (p.Ser1167=)
c.3890C= (p.Ser1297=)
c.3797C= (p.Ser1266=)
c.3272C= (p.Ser1091=)
c.3587C= (p.Ser1196=)
n.8159C=
3g.9475538C>GCA2239800SETD5n.2731C>G
c.3872C>G (p.Ser1291Cys)
n.4765C>G
n.2156C>G
n.6573C>G
n.6018C>G
c.3776C>G (p.Ser1259Cys)
c.*3922C>G (n.*3922C>G)
c.*3845C>G (n.*3845C>G)
c.*4150C>G (n.*4150C>G)
c.*3881C>G (n.*3881C>G)
c.3482C>G (p.Ser1161Cys)
c.2722+382C>G
c.3833C>G (p.Ser1278Cys)
c.2812C>G
n.907C>G
n.3117C>G
n.163C>G
n.3940C>G
c.3950C>G (p.Ser1317Cys)
c.3929C>G (p.Ser1310Cys)
c.3911C>G (p.Ser1304Cys)
c.3893C>G (p.Ser1298Cys)
c.3854C>G (p.Ser1285Cys)
c.3815C>G (p.Ser1272Cys)
c.3539C>G (p.Ser1180Cys)
c.3500C>G (p.Ser1167Cys)
c.3890C>G (p.Ser1297Cys)
c.3797C>G (p.Ser1266Cys)
c.3272C>G (p.Ser1091Cys)
c.3587C>G (p.Ser1196Cys)
n.8159C>G
 dbSNP ExAC gnomAD v2
3g.9475538C>TCA351690910SETD5n.2731C>T
c.3872C>T (p.Ser1291Phe)
n.4765C>T
n.2156C>T
n.6573C>T
n.6018C>T
c.3776C>T (p.Ser1259Phe)
c.*3922C>T (n.*3922C>T)
c.*3845C>T (n.*3845C>T)
c.*4150C>T (n.*4150C>T)
c.*3881C>T (n.*3881C>T)
c.3482C>T (p.Ser1161Phe)
c.2722+382C>T
c.3833C>T (p.Ser1278Phe)
c.2812C>T
n.907C>T
n.3117C>T
n.163C>T
n.3940C>T
c.3950C>T (p.Ser1317Phe)
c.3929C>T (p.Ser1310Phe)
c.3911C>T (p.Ser1304Phe)
c.3893C>T (p.Ser1298Phe)
c.3854C>T (p.Ser1285Phe)
c.3815C>T (p.Ser1272Phe)
c.3539C>T (p.Ser1180Phe)
c.3500C>T (p.Ser1167Phe)
c.3890C>T (p.Ser1297Phe)
c.3797C>T (p.Ser1266Phe)
c.3272C>T (p.Ser1091Phe)
c.3587C>T (p.Ser1196Phe)
n.8159C>T
3g.9475539C>ACA432528410SETD5n.2732C>A
c.3873C>A (p.Ser1291=)
n.4766C>A
n.2157C>A
n.6574C>A
n.6019C>A
c.3777C>A (p.Ser1259=)
c.*3923C>A (n.*3923C>A)
c.*3846C>A (n.*3846C>A)
c.*4151C>A (n.*4151C>A)
c.*3882C>A (n.*3882C>A)
c.3483C>A (p.Ser1161=)
c.2722+383C>A
c.3834C>A (p.Ser1278=)
c.2813C>A
n.908C>A
n.3118C>A
n.164C>A
n.3941C>A
c.3951C>A (p.Ser1317=)
c.3930C>A (p.Ser1310=)
c.3912C>A (p.Ser1304=)
c.3894C>A (p.Ser1298=)
c.3855C>A (p.Ser1285=)
c.3816C>A (p.Ser1272=)
c.3540C>A (p.Ser1180=)
c.3501C>A (p.Ser1167=)
c.3891C>A (p.Ser1297=)
c.3798C>A (p.Ser1266=)
c.3273C>A (p.Ser1091=)
c.3588C>A (p.Ser1196=)
n.8160C>A
3g.9475539C=CA1344742354SETD5n.2732C=
c.3873C= (p.Ser1291=)
n.4766C=
n.2157C=
n.6574C=
n.6019C=
c.3777C= (p.Ser1259=)
c.*3923C= (n.*3923C=)
c.*3846C= (n.*3846C=)
c.*4151C= (n.*4151C=)
c.*3882C= (n.*3882C=)
c.3483C= (p.Ser1161=)
c.2722+383C=
c.3834C= (p.Ser1278=)
c.2813C=
n.908C=
n.3118C=
n.164C=
n.3941C=
c.3951C= (p.Ser1317=)
c.3930C= (p.Ser1310=)
c.3912C= (p.Ser1304=)
c.3894C= (p.Ser1298=)
c.3855C= (p.Ser1285=)
c.3816C= (p.Ser1272=)
c.3540C= (p.Ser1180=)
c.3501C= (p.Ser1167=)
c.3891C= (p.Ser1297=)
c.3798C= (p.Ser1266=)
c.3273C= (p.Ser1091=)
c.3588C= (p.Ser1196=)
n.8160C=
3g.9475539C>GCA432528411SETD5n.2732C>G
c.3873C>G (p.Ser1291=)
n.4766C>G
n.2157C>G
n.6574C>G
n.6019C>G
c.3777C>G (p.Ser1259=)
c.*3923C>G (n.*3923C>G)
c.*3846C>G (n.*3846C>G)
c.*4151C>G (n.*4151C>G)
c.*3882C>G (n.*3882C>G)
c.3483C>G (p.Ser1161=)
c.2722+383C>G
c.3834C>G (p.Ser1278=)
c.2813C>G
n.908C>G
n.3118C>G
n.164C>G
n.3941C>G
c.3951C>G (p.Ser1317=)
c.3930C>G (p.Ser1310=)
c.3912C>G (p.Ser1304=)
c.3894C>G (p.Ser1298=)
c.3855C>G (p.Ser1285=)
c.3816C>G (p.Ser1272=)
c.3540C>G (p.Ser1180=)
c.3501C>G (p.Ser1167=)
c.3891C>G (p.Ser1297=)
c.3798C>G (p.Ser1266=)
c.3273C>G (p.Ser1091=)
c.3588C>G (p.Ser1196=)
n.8160C>G
3g.9475539C>TCA432528412SETD5n.2732C>T
c.3873C>T (p.Ser1291=)
n.4766C>T
n.2157C>T
n.6574C>T
n.6019C>T
c.3777C>T (p.Ser1259=)
c.*3923C>T (n.*3923C>T)
c.*3846C>T (n.*3846C>T)
c.*4151C>T (n.*4151C>T)
c.*3882C>T (n.*3882C>T)
c.3483C>T (p.Ser1161=)
c.2722+383C>T
c.3834C>T (p.Ser1278=)
c.2813C>T
n.908C>T
n.3118C>T
n.164C>T
n.3941C>T
c.3951C>T (p.Ser1317=)
c.3930C>T (p.Ser1310=)
c.3912C>T (p.Ser1304=)
c.3894C>T (p.Ser1298=)
c.3855C>T (p.Ser1285=)
c.3816C>T (p.Ser1272=)
c.3540C>T (p.Ser1180=)
c.3501C>T (p.Ser1167=)
c.3891C>T (p.Ser1297=)
c.3798C>T (p.Ser1266=)
c.3273C>T (p.Ser1091=)
c.3588C>T (p.Ser1196=)
n.8160C>T
 dbSNP gnomAD v3 gnomAD v4
3g.9475540T>ACA351690916SETD5n.2733T>A
c.3874T>A (p.Ser1292Thr)
n.4767T>A
n.2158T>A
n.6575T>A
n.6020T>A
c.3778T>A (p.Ser1260Thr)
c.*3924T>A (n.*3924T>A)
c.*3847T>A (n.*3847T>A)
c.*4152T>A (n.*4152T>A)
c.*3883T>A (n.*3883T>A)
c.3484T>A (p.Ser1162Thr)
c.2722+384T>A
c.3835T>A (p.Ser1279Thr)
c.2814T>A
n.909T>A
n.3119T>A
n.165T>A
n.3942T>A
c.3952T>A (p.Ser1318Thr)
c.3931T>A (p.Ser1311Thr)
c.3913T>A (p.Ser1305Thr)
c.3895T>A (p.Ser1299Thr)
c.3856T>A (p.Ser1286Thr)
c.3817T>A (p.Ser1273Thr)
c.3541T>A (p.Ser1181Thr)
c.3502T>A (p.Ser1168Thr)
c.3892T>A (p.Ser1298Thr)
c.3799T>A (p.Ser1267Thr)
c.3274T>A (p.Ser1092Thr)
c.3589T>A (p.Ser1197Thr)
n.8161T>A
3g.9475540T>CCA351690918SETD5n.2733T>C
c.3874T>C (p.Ser1292Pro)
n.4767T>C
n.2158T>C
n.6575T>C
n.6020T>C
c.3778T>C (p.Ser1260Pro)
c.*3924T>C (n.*3924T>C)
c.*3847T>C (n.*3847T>C)
c.*4152T>C (n.*4152T>C)
c.*3883T>C (n.*3883T>C)
c.3484T>C (p.Ser1162Pro)
c.2722+384T>C
c.3835T>C (p.Ser1279Pro)
c.2814T>C
n.909T>C
n.3119T>C
n.165T>C
n.3942T>C
c.3952T>C (p.Ser1318Pro)
c.3931T>C (p.Ser1311Pro)
c.3913T>C (p.Ser1305Pro)
c.3895T>C (p.Ser1299Pro)
c.3856T>C (p.Ser1286Pro)
c.3817T>C (p.Ser1273Pro)
c.3541T>C (p.Ser1181Pro)
c.3502T>C (p.Ser1168Pro)
c.3892T>C (p.Ser1298Pro)
c.3799T>C (p.Ser1267Pro)
c.3274T>C (p.Ser1092Pro)
c.3589T>C (p.Ser1197Pro)
n.8161T>C
3g.9475540T>GCA351690914SETD5n.2733T>G
c.3874T>G (p.Ser1292Ala)
n.4767T>G
n.2158T>G
n.6575T>G
n.6020T>G
c.3778T>G (p.Ser1260Ala)
c.*3924T>G (n.*3924T>G)
c.*3847T>G (n.*3847T>G)
c.*4152T>G (n.*4152T>G)
c.*3883T>G (n.*3883T>G)
c.3484T>G (p.Ser1162Ala)
c.2722+384T>G
c.3835T>G (p.Ser1279Ala)
c.2814T>G
n.909T>G
n.3119T>G
n.165T>G
n.3942T>G
c.3952T>G (p.Ser1318Ala)
c.3931T>G (p.Ser1311Ala)
c.3913T>G (p.Ser1305Ala)
c.3895T>G (p.Ser1299Ala)
c.3856T>G (p.Ser1286Ala)
c.3817T>G (p.Ser1273Ala)
c.3541T>G (p.Ser1181Ala)
c.3502T>G (p.Ser1168Ala)
c.3892T>G (p.Ser1298Ala)
c.3799T>G (p.Ser1267Ala)
c.3274T>G (p.Ser1092Ala)
c.3589T>G (p.Ser1197Ala)
n.8161T>G
3g.9475540T=CA1344742359SETD5n.2733T=
c.3874T= (p.Ser1292=)
n.4767T=
n.2158T=
n.6575T=
n.6020T=
c.3778T= (p.Ser1260=)
c.*3924T= (n.*3924T=)
c.*3847T= (n.*3847T=)
c.*4152T= (n.*4152T=)
c.*3883T= (n.*3883T=)
c.3484T= (p.Ser1162=)
c.2722+384T=
c.3835T= (p.Ser1279=)
c.2814T=
n.909T=
n.3119T=
n.165T=
n.3942T=
c.3952T= (p.Ser1318=)
c.3931T= (p.Ser1311=)
c.3913T= (p.Ser1305=)
c.3895T= (p.Ser1299=)
c.3856T= (p.Ser1286=)
c.3817T= (p.Ser1273=)
c.3541T= (p.Ser1181=)
c.3502T= (p.Ser1168=)
c.3892T= (p.Ser1298=)
c.3799T= (p.Ser1267=)
c.3274T= (p.Ser1092=)
c.3589T= (p.Ser1197=)
n.8161T=
3g.9475541C>ACA351690922SETD5n.2734C>A
c.3875C>A (p.Ser1292Tyr)
n.4768C>A
n.2159C>A
n.6576C>A
n.6021C>A
c.3779C>A (p.Ser1260Tyr)
c.*3925C>A (n.*3925C>A)
c.*3848C>A (n.*3848C>A)
c.*4153C>A (n.*4153C>A)
c.*3884C>A (n.*3884C>A)
c.3485C>A (p.Ser1162Tyr)
c.2722+385C>A
c.3836C>A (p.Ser1279Tyr)
c.2815C>A
n.910C>A
n.3120C>A
n.166C>A
n.3943C>A
c.3953C>A (p.Ser1318Tyr)
c.3932C>A (p.Ser1311Tyr)
c.3914C>A (p.Ser1305Tyr)
c.3896C>A (p.Ser1299Tyr)
c.3857C>A (p.Ser1286Tyr)
c.3818C>A (p.Ser1273Tyr)
c.3542C>A (p.Ser1181Tyr)
c.3503C>A (p.Ser1168Tyr)
c.3893C>A (p.Ser1298Tyr)
c.3800C>A (p.Ser1267Tyr)
c.3275C>A (p.Ser1092Tyr)
c.3590C>A (p.Ser1197Tyr)
n.8162C>A
 dbSNP gnomAD v4
3g.9475541C=CA1344742370SETD5n.2734C=
c.3875C= (p.Ser1292=)
n.4768C=
n.2159C=
n.6576C=
n.6021C=
c.3779C= (p.Ser1260=)
c.*3925C= (n.*3925C=)
c.*3848C= (n.*3848C=)
c.*4153C= (n.*4153C=)
c.*3884C= (n.*3884C=)
c.3485C= (p.Ser1162=)
c.2722+385C=
c.3836C= (p.Ser1279=)
c.2815C=
n.910C=
n.3120C=
n.166C=
n.3943C=
c.3953C= (p.Ser1318=)
c.3932C= (p.Ser1311=)
c.3914C= (p.Ser1305=)
c.3896C= (p.Ser1299=)
c.3857C= (p.Ser1286=)
c.3818C= (p.Ser1273=)
c.3542C= (p.Ser1181=)
c.3503C= (p.Ser1168=)
c.3893C= (p.Ser1298=)
c.3800C= (p.Ser1267=)
c.3275C= (p.Ser1092=)
c.3590C= (p.Ser1197=)
n.8162C=
3g.9475541C>GCA351690927SETD5n.2734C>G
c.3875C>G (p.Ser1292Cys)
n.4768C>G
n.2159C>G
n.6576C>G
n.6021C>G
c.3779C>G (p.Ser1260Cys)
c.*3925C>G (n.*3925C>G)
c.*3848C>G (n.*3848C>G)
c.*4153C>G (n.*4153C>G)
c.*3884C>G (n.*3884C>G)
c.3485C>G (p.Ser1162Cys)
c.2722+385C>G
c.3836C>G (p.Ser1279Cys)
c.2815C>G
n.910C>G
n.3120C>G
n.166C>G
n.3943C>G
c.3953C>G (p.Ser1318Cys)
c.3932C>G (p.Ser1311Cys)
c.3914C>G (p.Ser1305Cys)
c.3896C>G (p.Ser1299Cys)
c.3857C>G (p.Ser1286Cys)
c.3818C>G (p.Ser1273Cys)
c.3542C>G (p.Ser1181Cys)
c.3503C>G (p.Ser1168Cys)
c.3893C>G (p.Ser1298Cys)
c.3800C>G (p.Ser1267Cys)
c.3275C>G (p.Ser1092Cys)
c.3590C>G (p.Ser1197Cys)
n.8162C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.9475541C>TCA351690924SETD5n.2734C>T
c.3875C>T (p.Ser1292Phe)
n.4768C>T
n.2159C>T
n.6576C>T
n.6021C>T
c.3779C>T (p.Ser1260Phe)
c.*3925C>T (n.*3925C>T)
c.*3848C>T (n.*3848C>T)
c.*4153C>T (n.*4153C>T)
c.*3884C>T (n.*3884C>T)
c.3485C>T (p.Ser1162Phe)
c.2722+385C>T
c.3836C>T (p.Ser1279Phe)
c.2815C>T
n.910C>T
n.3120C>T
n.166C>T
n.3943C>T
c.3953C>T (p.Ser1318Phe)
c.3932C>T (p.Ser1311Phe)
c.3914C>T (p.Ser1305Phe)
c.3896C>T (p.Ser1299Phe)
c.3857C>T (p.Ser1286Phe)
c.3818C>T (p.Ser1273Phe)
c.3542C>T (p.Ser1181Phe)
c.3503C>T (p.Ser1168Phe)
c.3893C>T (p.Ser1298Phe)
c.3800C>T (p.Ser1267Phe)
c.3275C>T (p.Ser1092Phe)
c.3590C>T (p.Ser1197Phe)
n.8162C>T
 COSMIC COSMIC
3g.9475545dupCA16618016SETD5n.2738dup
c.3879dup (p.Phe1294LeufsTer?)
n.4772dup
n.2163dup
n.6580dup
n.6025dup
c.3783dup (p.Phe1262LeufsTer?)
c.*3929dup (n.*3929dup)
c.*3852dup (n.*3852dup)
c.*4157dup (n.*4157dup)
c.*3888dup (n.*3888dup)
c.3489dup (p.Phe1164LeufsTer?)
c.2722+389dup
c.3840dup (p.Phe1281LeufsTer?)
c.2819dup
n.914dup
n.3124dup
n.170dup
n.3947dup
c.3957dup (p.Phe1320LeufsTer?)
c.3936dup (p.Phe1313LeufsTer?)
c.3918dup (p.Phe1307LeufsTer?)
c.3900dup (p.Phe1301LeufsTer?)
c.3861dup (p.Phe1288LeufsTer?)
c.3822dup (p.Phe1275LeufsTer?)
c.3546dup (p.Phe1183LeufsTer?)
c.3507dup (p.Phe1170LeufsTer?)
c.3897dup (p.Phe1300LeufsTer?)
c.3804dup (p.Phe1269LeufsTer?)
c.3279dup (p.Phe1094LeufsTer?)
c.3594dup (p.Phe1199LeufsTer?)
n.8166dup
 ClinVar dbSNP
3g.9475542C>ACA432528417SETD5n.2735C>A
c.3876C>A (p.Ser1292=)
n.4769C>A
n.2160C>A
n.6577C>A
n.6022C>A
c.3780C>A (p.Ser1260=)
c.*3926C>A (n.*3926C>A)
c.*3849C>A (n.*3849C>A)
c.*4154C>A (n.*4154C>A)
c.*3885C>A (n.*3885C>A)
c.3486C>A (p.Ser1162=)
c.2722+386C>A
c.3837C>A (p.Ser1279=)
c.2816C>A
n.911C>A
n.3121C>A
n.167C>A
n.3944C>A
c.3954C>A (p.Ser1318=)
c.3933C>A (p.Ser1311=)
c.3915C>A (p.Ser1305=)
c.3897C>A (p.Ser1299=)
c.3858C>A (p.Ser1286=)
c.3819C>A (p.Ser1273=)
c.3543C>A (p.Ser1181=)
c.3504C>A (p.Ser1168=)
c.3894C>A (p.Ser1298=)
c.3801C>A (p.Ser1267=)
c.3276C>A (p.Ser1092=)
c.3591C>A (p.Ser1197=)
n.8163C>A
3g.9475542C=CA1344742373SETD5n.2735C=
c.3876C= (p.Ser1292=)
n.4769C=
n.2160C=
n.6577C=
n.6022C=
c.3780C= (p.Ser1260=)
c.*3926C= (n.*3926C=)
c.*3849C= (n.*3849C=)
c.*4154C= (n.*4154C=)
c.*3885C= (n.*3885C=)
c.3486C= (p.Ser1162=)
c.2722+386C=
c.3837C= (p.Ser1279=)
c.2816C=
n.911C=
n.3121C=
n.167C=
n.3944C=
c.3954C= (p.Ser1318=)
c.3933C= (p.Ser1311=)
c.3915C= (p.Ser1305=)
c.3897C= (p.Ser1299=)
c.3858C= (p.Ser1286=)
c.3819C= (p.Ser1273=)
c.3543C= (p.Ser1181=)
c.3504C= (p.Ser1168=)
c.3894C= (p.Ser1298=)
c.3801C= (p.Ser1267=)
c.3276C= (p.Ser1092=)
c.3591C= (p.Ser1197=)
n.8163C=
3g.9475542C>GCA432528420SETD5n.2735C>G
c.3876C>G (p.Ser1292=)
n.4769C>G
n.2160C>G
n.6577C>G
n.6022C>G
c.3780C>G (p.Ser1260=)
c.*3926C>G (n.*3926C>G)
c.*3849C>G (n.*3849C>G)
c.*4154C>G (n.*4154C>G)
c.*3885C>G (n.*3885C>G)
c.3486C>G (p.Ser1162=)
c.2722+386C>G
c.3837C>G (p.Ser1279=)
c.2816C>G
n.911C>G
n.3121C>G
n.167C>G
n.3944C>G
c.3954C>G (p.Ser1318=)
c.3933C>G (p.Ser1311=)
c.3915C>G (p.Ser1305=)
c.3897C>G (p.Ser1299=)
c.3858C>G (p.Ser1286=)
c.3819C>G (p.Ser1273=)
c.3543C>G (p.Ser1181=)
c.3504C>G (p.Ser1168=)
c.3894C>G (p.Ser1298=)
c.3801C>G (p.Ser1267=)
c.3276C>G (p.Ser1092=)
c.3591C>G (p.Ser1197=)
n.8163C>G
 dbSNP gnomAD v4
3g.9475542C>TCA432528419SETD5n.2735C>T
c.3876C>T (p.Ser1292=)
n.4769C>T
n.2160C>T
n.6577C>T
n.6022C>T
c.3780C>T (p.Ser1260=)
c.*3926C>T (n.*3926C>T)
c.*3849C>T (n.*3849C>T)
c.*4154C>T (n.*4154C>T)
c.*3885C>T (n.*3885C>T)
c.3486C>T (p.Ser1162=)
c.2722+386C>T
c.3837C>T (p.Ser1279=)
c.2816C>T
n.911C>T
n.3121C>T
n.167C>T
n.3944C>T
c.3954C>T (p.Ser1318=)
c.3933C>T (p.Ser1311=)
c.3915C>T (p.Ser1305=)
c.3897C>T (p.Ser1299=)
c.3858C>T (p.Ser1286=)
c.3819C>T (p.Ser1273=)
c.3543C>T (p.Ser1181=)
c.3504C>T (p.Ser1168=)
c.3894C>T (p.Ser1298=)
c.3801C>T (p.Ser1267=)
c.3276C>T (p.Ser1092=)
c.3591C>T (p.Ser1197=)
n.8163C>T
 COSMIC COSMIC
3g.9475543C>ACA351690930SETD5n.2736C>A
c.3877C>A (p.Pro1293Thr)
n.4770C>A
n.2161C>A
n.6578C>A
n.6023C>A
c.3781C>A (p.Pro1261Thr)
c.*3927C>A (n.*3927C>A)
c.*3850C>A (n.*3850C>A)
c.*4155C>A (n.*4155C>A)
c.*3886C>A (n.*3886C>A)
c.3487C>A (p.Pro1163Thr)
c.2722+387C>A
c.3838C>A (p.Pro1280Thr)
c.2817C>A
n.912C>A
n.3122C>A
n.168C>A
n.3945C>A
c.3955C>A (p.Pro1319Thr)
c.3934C>A (p.Pro1312Thr)
c.3916C>A (p.Pro1306Thr)
c.3898C>A (p.Pro1300Thr)
c.3859C>A (p.Pro1287Thr)
c.3820C>A (p.Pro1274Thr)
c.3544C>A (p.Pro1182Thr)
c.3505C>A (p.Pro1169Thr)
c.3895C>A (p.Pro1299Thr)
c.3802C>A (p.Pro1268Thr)
c.3277C>A (p.Pro1093Thr)
c.3592C>A (p.Pro1198Thr)
n.8164C>A
3g.9475543C=CA1344742376SETD5n.2736C=
c.3877C= (p.Pro1293=)
n.4770C=
n.2161C=
n.6578C=
n.6023C=
c.3781C= (p.Pro1261=)
c.*3927C= (n.*3927C=)
c.*3850C= (n.*3850C=)
c.*4155C= (n.*4155C=)
c.*3886C= (n.*3886C=)
c.3487C= (p.Pro1163=)
c.2722+387C=
c.3838C= (p.Pro1280=)
c.2817C=
n.912C=
n.3122C=
n.168C=
n.3945C=
c.3955C= (p.Pro1319=)
c.3934C= (p.Pro1312=)
c.3916C= (p.Pro1306=)
c.3898C= (p.Pro1300=)
c.3859C= (p.Pro1287=)
c.3820C= (p.Pro1274=)
c.3544C= (p.Pro1182=)
c.3505C= (p.Pro1169=)
c.3895C= (p.Pro1299=)
c.3802C= (p.Pro1268=)
c.3277C= (p.Pro1093=)
c.3592C= (p.Pro1198=)
n.8164C=
3g.9475543C>GCA351690948SETD5n.2736C>G
c.3877C>G (p.Pro1293Ala)
n.4770C>G
n.2161C>G
n.6578C>G
n.6023C>G
c.3781C>G (p.Pro1261Ala)
c.*3927C>G (n.*3927C>G)
c.*3850C>G (n.*3850C>G)
c.*4155C>G (n.*4155C>G)
c.*3886C>G (n.*3886C>G)
c.3487C>G (p.Pro1163Ala)
c.2722+387C>G
c.3838C>G (p.Pro1280Ala)
c.2817C>G
n.912C>G
n.3122C>G
n.168C>G
n.3945C>G
c.3955C>G (p.Pro1319Ala)
c.3934C>G (p.Pro1312Ala)
c.3916C>G (p.Pro1306Ala)
c.3898C>G (p.Pro1300Ala)
c.3859C>G (p.Pro1287Ala)
c.3820C>G (p.Pro1274Ala)
c.3544C>G (p.Pro1182Ala)
c.3505C>G (p.Pro1169Ala)
c.3895C>G (p.Pro1299Ala)
c.3802C>G (p.Pro1268Ala)
c.3277C>G (p.Pro1093Ala)
c.3592C>G (p.Pro1198Ala)
n.8164C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.9475543C>TCA351690943SETD5n.2736C>T
c.3877C>T (p.Pro1293Ser)
n.4770C>T
n.2161C>T
n.6578C>T
n.6023C>T
c.3781C>T (p.Pro1261Ser)
c.*3927C>T (n.*3927C>T)
c.*3850C>T (n.*3850C>T)
c.*4155C>T (n.*4155C>T)
c.*3886C>T (n.*3886C>T)
c.3487C>T (p.Pro1163Ser)
c.2722+387C>T
c.3838C>T (p.Pro1280Ser)
c.2817C>T
n.912C>T
n.3122C>T
n.168C>T
n.3945C>T
c.3955C>T (p.Pro1319Ser)
c.3934C>T (p.Pro1312Ser)
c.3916C>T (p.Pro1306Ser)
c.3898C>T (p.Pro1300Ser)
c.3859C>T (p.Pro1287Ser)
c.3820C>T (p.Pro1274Ser)
c.3544C>T (p.Pro1182Ser)
c.3505C>T (p.Pro1169Ser)
c.3895C>T (p.Pro1299Ser)
c.3802C>T (p.Pro1268Ser)
c.3277C>T (p.Pro1093Ser)
c.3592C>T (p.Pro1198Ser)
n.8164C>T
3g.9475544C>ACA351690952SETD5n.2737C>A
c.3878C>A (p.Pro1293His)
n.4771C>A
n.2162C>A
n.6579C>A
n.6024C>A
c.3782C>A (p.Pro1261His)
c.*3928C>A (n.*3928C>A)
c.*3851C>A (n.*3851C>A)
c.*4156C>A (n.*4156C>A)
c.*3887C>A (n.*3887C>A)
c.3488C>A (p.Pro1163His)
c.2722+388C>A
c.3839C>A (p.Pro1280His)
c.2818C>A
n.913C>A
n.3123C>A
n.169C>A
n.3946C>A
c.3956C>A (p.Pro1319His)
c.3935C>A (p.Pro1312His)
c.3917C>A (p.Pro1306His)
c.3899C>A (p.Pro1300His)
c.3860C>A (p.Pro1287His)
c.3821C>A (p.Pro1274His)
c.3545C>A (p.Pro1182His)
c.3506C>A (p.Pro1169His)
c.3896C>A (p.Pro1299His)
c.3803C>A (p.Pro1268His)
c.3278C>A (p.Pro1093His)
c.3593C>A (p.Pro1198His)
n.8165C>A
 ClinVar
3g.9475544C=CA1344742379SETD5n.2737C=
c.3878C= (p.Pro1293=)
n.4771C=
n.2162C=
n.6579C=
n.6024C=
c.3782C= (p.Pro1261=)
c.*3928C= (n.*3928C=)
c.*3851C= (n.*3851C=)
c.*4156C= (n.*4156C=)
c.*3887C= (n.*3887C=)
c.3488C= (p.Pro1163=)
c.2722+388C=
c.3839C= (p.Pro1280=)
c.2818C=
n.913C=
n.3123C=
n.169C=
n.3946C=
c.3956C= (p.Pro1319=)
c.3935C= (p.Pro1312=)
c.3917C= (p.Pro1306=)
c.3899C= (p.Pro1300=)
c.3860C= (p.Pro1287=)
c.3821C= (p.Pro1274=)
c.3545C= (p.Pro1182=)
c.3506C= (p.Pro1169=)
c.3896C= (p.Pro1299=)
c.3803C= (p.Pro1268=)
c.3278C= (p.Pro1093=)
c.3593C= (p.Pro1198=)
n.8165C=
3g.9475544C>GCA2239801SETD5n.2737C>G
c.3878C>G (p.Pro1293Arg)
n.4771C>G
n.2162C>G
n.6579C>G
n.6024C>G
c.3782C>G (p.Pro1261Arg)
c.*3928C>G (n.*3928C>G)
c.*3851C>G (n.*3851C>G)
c.*4156C>G (n.*4156C>G)
c.*3887C>G (n.*3887C>G)
c.3488C>G (p.Pro1163Arg)
c.2722+388C>G
c.3839C>G (p.Pro1280Arg)
c.2818C>G
n.913C>G
n.3123C>G
n.169C>G
n.3946C>G
c.3956C>G (p.Pro1319Arg)
c.3935C>G (p.Pro1312Arg)
c.3917C>G (p.Pro1306Arg)
c.3899C>G (p.Pro1300Arg)
c.3860C>G (p.Pro1287Arg)
c.3821C>G (p.Pro1274Arg)
c.3545C>G (p.Pro1182Arg)
c.3506C>G (p.Pro1169Arg)
c.3896C>G (p.Pro1299Arg)
c.3803C>G (p.Pro1268Arg)
c.3278C>G (p.Pro1093Arg)
c.3593C>G (p.Pro1198Arg)
n.8165C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.9475544C>TCA351690962SETD5n.2737C>T
c.3878C>T (p.Pro1293Leu)
n.4771C>T
n.2162C>T
n.6579C>T
n.6024C>T
c.3782C>T (p.Pro1261Leu)
c.*3928C>T (n.*3928C>T)
c.*3851C>T (n.*3851C>T)
c.*4156C>T (n.*4156C>T)
c.*3887C>T (n.*3887C>T)
c.3488C>T (p.Pro1163Leu)
c.2722+388C>T
c.3839C>T (p.Pro1280Leu)
c.2818C>T
n.913C>T
n.3123C>T
n.169C>T
n.3946C>T
c.3956C>T (p.Pro1319Leu)
c.3935C>T (p.Pro1312Leu)
c.3917C>T (p.Pro1306Leu)
c.3899C>T (p.Pro1300Leu)
c.3860C>T (p.Pro1287Leu)
c.3821C>T (p.Pro1274Leu)
c.3545C>T (p.Pro1182Leu)
c.3506C>T (p.Pro1169Leu)
c.3896C>T (p.Pro1299Leu)
c.3803C>T (p.Pro1268Leu)
c.3278C>T (p.Pro1093Leu)
c.3593C>T (p.Pro1198Leu)
n.8165C>T
 ClinVar gnomAD v4
3g.9475545C>ACA432528423SETD5n.2738C>A
c.3879C>A (p.Pro1293=)
n.4772C>A
n.2163C>A
n.6580C>A
n.6025C>A
c.3783C>A (p.Pro1261=)
c.*3929C>A (n.*3929C>A)
c.*3852C>A (n.*3852C>A)
c.*4157C>A (n.*4157C>A)
c.*3888C>A (n.*3888C>A)
c.3489C>A (p.Pro1163=)
c.2722+389C>A
c.3840C>A (p.Pro1280=)
c.2819C>A
n.914C>A
n.3124C>A
n.170C>A
n.3947C>A
c.3957C>A (p.Pro1319=)
c.3936C>A (p.Pro1312=)
c.3918C>A (p.Pro1306=)
c.3900C>A (p.Pro1300=)
c.3861C>A (p.Pro1287=)
c.3822C>A (p.Pro1274=)
c.3546C>A (p.Pro1182=)
c.3507C>A (p.Pro1169=)
c.3897C>A (p.Pro1299=)
c.3804C>A (p.Pro1268=)
c.3279C>A (p.Pro1093=)
c.3594C>A (p.Pro1198=)
n.8166C>A
 ClinVar dbSNP gnomAD v4
3g.9475545C=CA1344742383SETD5n.2738C=
c.3879C= (p.Pro1293=)
n.4772C=
n.2163C=
n.6580C=
n.6025C=
c.3783C= (p.Pro1261=)
c.*3929C= (n.*3929C=)
c.*3852C= (n.*3852C=)
c.*4157C= (n.*4157C=)
c.*3888C= (n.*3888C=)
c.3489C= (p.Pro1163=)
c.2722+389C=
c.3840C= (p.Pro1280=)
c.2819C=
n.914C=
n.3124C=
n.170C=
n.3947C=
c.3957C= (p.Pro1319=)
c.3936C= (p.Pro1312=)
c.3918C= (p.Pro1306=)
c.3900C= (p.Pro1300=)
c.3861C= (p.Pro1287=)
c.3822C= (p.Pro1274=)
c.3546C= (p.Pro1182=)
c.3507C= (p.Pro1169=)
c.3897C= (p.Pro1299=)
c.3804C= (p.Pro1268=)
c.3279C= (p.Pro1093=)
c.3594C= (p.Pro1198=)
n.8166C=
3g.9475545C>GCA432528424SETD5n.2738C>G
c.3879C>G (p.Pro1293=)
n.4772C>G
n.2163C>G
n.6580C>G
n.6025C>G
c.3783C>G (p.Pro1261=)
c.*3929C>G (n.*3929C>G)
c.*3852C>G (n.*3852C>G)
c.*4157C>G (n.*4157C>G)
c.*3888C>G (n.*3888C>G)
c.3489C>G (p.Pro1163=)
c.2722+389C>G
c.3840C>G (p.Pro1280=)
c.2819C>G
n.914C>G
n.3124C>G
n.170C>G
n.3947C>G
c.3957C>G (p.Pro1319=)
c.3936C>G (p.Pro1312=)
c.3918C>G (p.Pro1306=)
c.3900C>G (p.Pro1300=)
c.3861C>G (p.Pro1287=)
c.3822C>G (p.Pro1274=)
c.3546C>G (p.Pro1182=)
c.3507C>G (p.Pro1169=)
c.3897C>G (p.Pro1299=)
c.3804C>G (p.Pro1268=)
c.3279C>G (p.Pro1093=)
c.3594C>G (p.Pro1198=)
n.8166C>G
 dbSNP gnomAD v4
3g.9475545C>TCA432528425SETD5n.2738C>T
c.3879C>T (p.Pro1293=)
n.4772C>T
n.2163C>T
n.6580C>T
n.6025C>T
c.3783C>T (p.Pro1261=)
c.*3929C>T (n.*3929C>T)
c.*3852C>T (n.*3852C>T)
c.*4157C>T (n.*4157C>T)
c.*3888C>T (n.*3888C>T)
c.3489C>T (p.Pro1163=)
c.2722+389C>T
c.3840C>T (p.Pro1280=)
c.2819C>T
n.914C>T
n.3124C>T
n.170C>T
n.3947C>T
c.3957C>T (p.Pro1319=)
c.3936C>T (p.Pro1312=)
c.3918C>T (p.Pro1306=)
c.3900C>T (p.Pro1300=)
c.3861C>T (p.Pro1287=)
c.3822C>T (p.Pro1274=)
c.3546C>T (p.Pro1182=)
c.3507C>T (p.Pro1169=)
c.3897C>T (p.Pro1299=)
c.3804C>T (p.Pro1268=)
c.3279C>T (p.Pro1093=)
c.3594C>T (p.Pro1198=)
n.8166C>T
 gnomAD v4
3g.9475546T>ACA351690967SETD5n.2739T>A
c.3880T>A (p.Phe1294Ile)
n.4773T>A
n.2164T>A
n.6581T>A
n.6026T>A
c.3784T>A (p.Phe1262Ile)
c.*3930T>A (n.*3930T>A)
c.*3853T>A (n.*3853T>A)
c.*4158T>A (n.*4158T>A)
c.*3889T>A (n.*3889T>A)
c.3490T>A (p.Phe1164Ile)
c.2722+390T>A
c.3841T>A (p.Phe1281Ile)
c.2820T>A
n.915T>A
n.3125T>A
n.171T>A
n.3948T>A
c.3958T>A (p.Phe1320Ile)
c.3937T>A (p.Phe1313Ile)
c.3919T>A (p.Phe1307Ile)
c.3901T>A (p.Phe1301Ile)
c.3862T>A (p.Phe1288Ile)
c.3823T>A (p.Phe1275Ile)
c.3547T>A (p.Phe1183Ile)
c.3508T>A (p.Phe1170Ile)
c.3898T>A (p.Phe1300Ile)
c.3805T>A (p.Phe1269Ile)
c.3280T>A (p.Phe1094Ile)
c.3595T>A (p.Phe1199Ile)
n.8167T>A
3g.9475546T>CCA351690971SETD5n.2739T>C
c.3880T>C (p.Phe1294Leu)
n.4773T>C
n.2164T>C
n.6581T>C
n.6026T>C
c.3784T>C (p.Phe1262Leu)
c.*3930T>C (n.*3930T>C)
c.*3853T>C (n.*3853T>C)
c.*4158T>C (n.*4158T>C)
c.*3889T>C (n.*3889T>C)
c.3490T>C (p.Phe1164Leu)
c.2722+390T>C
c.3841T>C (p.Phe1281Leu)
c.2820T>C
n.915T>C
n.3125T>C
n.171T>C
n.3948T>C
c.3958T>C (p.Phe1320Leu)
c.3937T>C (p.Phe1313Leu)
c.3919T>C (p.Phe1307Leu)
c.3901T>C (p.Phe1301Leu)
c.3862T>C (p.Phe1288Leu)
c.3823T>C (p.Phe1275Leu)
c.3547T>C (p.Phe1183Leu)
c.3508T>C (p.Phe1170Leu)
c.3898T>C (p.Phe1300Leu)
c.3805T>C (p.Phe1269Leu)
c.3280T>C (p.Phe1094Leu)
c.3595T>C (p.Phe1199Leu)
n.8167T>C
3g.9475546T>GCA351690975SETD5n.2739T>G
c.3880T>G (p.Phe1294Val)
n.4773T>G
n.2164T>G
n.6581T>G
n.6026T>G
c.3784T>G (p.Phe1262Val)
c.*3930T>G (n.*3930T>G)
c.*3853T>G (n.*3853T>G)
c.*4158T>G (n.*4158T>G)
c.*3889T>G (n.*3889T>G)
c.3490T>G (p.Phe1164Val)
c.2722+390T>G
c.3841T>G (p.Phe1281Val)
c.2820T>G
n.915T>G
n.3125T>G
n.171T>G
n.3948T>G
c.3958T>G (p.Phe1320Val)
c.3937T>G (p.Phe1313Val)
c.3919T>G (p.Phe1307Val)
c.3901T>G (p.Phe1301Val)
c.3862T>G (p.Phe1288Val)
c.3823T>G (p.Phe1275Val)
c.3547T>G (p.Phe1183Val)
c.3508T>G (p.Phe1170Val)
c.3898T>G (p.Phe1300Val)
c.3805T>G (p.Phe1269Val)
c.3280T>G (p.Phe1094Val)
c.3595T>G (p.Phe1199Val)
n.8167T>G

Number of alleles fetched