Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=

Number of alleles fetched