Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.9473310A>CCA432365749SETD5n.1740A>C
c.3366A>C (p.Ala1122=)
n.3774A>C
n.839A>C
n.4345A>C
n.4701A>C
c.3270A>C (p.Ala1090=)
c.*3416A>C (n.*3416A>C)
c.*3339A>C (n.*3339A>C)
c.*3644A>C (n.*3644A>C)
c.*3375A>C (n.*3375A>C)
c.2976A>C (p.Ala992=)
c.2272A>C
c.3327A>C (p.Ala1109=)
c.2306A>C
c.1261A>C
n.2611A>C
n.338A>C
n.75A>C
n.3434A>C
c.3444A>C (p.Ala1148=)
c.3423A>C (p.Ala1141=)
c.3405A>C (p.Ala1135=)
c.3387A>C (p.Ala1129=)
c.3348A>C (p.Ala1116=)
c.3309A>C (p.Ala1103=)
c.3033A>C (p.Ala1011=)
c.2994A>C (p.Ala998=)
c.3384A>C (p.Ala1128=)
c.3291A>C (p.Ala1097=)
c.2766A>C (p.Ala922=)
c.3081A>C (p.Ala1027=)
n.7653A>C
3g.9473310A>GCA432365750SETD5n.1740A>G
c.3366A>G (p.Ala1122=)
n.3774A>G
n.839A>G
n.4345A>G
n.4701A>G
c.3270A>G (p.Ala1090=)
c.*3416A>G (n.*3416A>G)
c.*3339A>G (n.*3339A>G)
c.*3644A>G (n.*3644A>G)
c.*3375A>G (n.*3375A>G)
c.2976A>G (p.Ala992=)
c.2272A>G
c.3327A>G (p.Ala1109=)
c.2306A>G
c.1261A>G
n.2611A>G
n.338A>G
n.75A>G
n.3434A>G
c.3444A>G (p.Ala1148=)
c.3423A>G (p.Ala1141=)
c.3405A>G (p.Ala1135=)
c.3387A>G (p.Ala1129=)
c.3348A>G (p.Ala1116=)
c.3309A>G (p.Ala1103=)
c.3033A>G (p.Ala1011=)
c.2994A>G (p.Ala998=)
c.3384A>G (p.Ala1128=)
c.3291A>G (p.Ala1097=)
c.2766A>G (p.Ala922=)
c.3081A>G (p.Ala1027=)
n.7653A>G
 gnomAD v4
3g.9473310A>TCA432365751SETD5n.1740A>T
c.3366A>T (p.Ala1122=)
n.3774A>T
n.839A>T
n.4345A>T
n.4701A>T
c.3270A>T (p.Ala1090=)
c.*3416A>T (n.*3416A>T)
c.*3339A>T (n.*3339A>T)
c.*3644A>T (n.*3644A>T)
c.*3375A>T (n.*3375A>T)
c.2976A>T (p.Ala992=)
c.2272A>T
c.3327A>T (p.Ala1109=)
c.2306A>T
c.1261A>T
n.2611A>T
n.338A>T
n.75A>T
n.3434A>T
c.3444A>T (p.Ala1148=)
c.3423A>T (p.Ala1141=)
c.3405A>T (p.Ala1135=)
c.3387A>T (p.Ala1129=)
c.3348A>T (p.Ala1116=)
c.3309A>T (p.Ala1103=)
c.3033A>T (p.Ala1011=)
c.2994A>T (p.Ala998=)
c.3384A>T (p.Ala1128=)
c.3291A>T (p.Ala1097=)
c.2766A>T (p.Ala922=)
c.3081A>T (p.Ala1027=)
n.7653A>T
3g.9473311C>ACA351685249SETD5n.1741C>A
c.3367C>A (p.Gln1123Lys)
n.3775C>A
n.840C>A
n.4346C>A
n.4702C>A
c.3271C>A (p.Gln1091Lys)
c.*3417C>A (n.*3417C>A)
c.*3340C>A (n.*3340C>A)
c.*3645C>A (n.*3645C>A)
c.*3376C>A (n.*3376C>A)
c.2977C>A (p.Gln993Lys)
c.2273C>A
c.3328C>A (p.Gln1110Lys)
c.2307C>A
c.1262C>A
n.2612C>A
n.339C>A
n.76C>A
n.3435C>A
c.3445C>A (p.Gln1149Lys)
c.3424C>A (p.Gln1142Lys)
c.3406C>A (p.Gln1136Lys)
c.3388C>A (p.Gln1130Lys)
c.3349C>A (p.Gln1117Lys)
c.3310C>A (p.Gln1104Lys)
c.3034C>A (p.Gln1012Lys)
c.2995C>A (p.Gln999Lys)
c.3385C>A (p.Gln1129Lys)
c.3292C>A (p.Gln1098Lys)
c.2767C>A (p.Gln923Lys)
c.3082C>A (p.Gln1028Lys)
n.7654C>A
3g.9473311C>GCA351685256SETD5n.1741C>G
c.3367C>G (p.Gln1123Glu)
n.3775C>G
n.840C>G
n.4346C>G
n.4702C>G
c.3271C>G (p.Gln1091Glu)
c.*3417C>G (n.*3417C>G)
c.*3340C>G (n.*3340C>G)
c.*3645C>G (n.*3645C>G)
c.*3376C>G (n.*3376C>G)
c.2977C>G (p.Gln993Glu)
c.2273C>G
c.3328C>G (p.Gln1110Glu)
c.2307C>G
c.1262C>G
n.2612C>G
n.339C>G
n.76C>G
n.3435C>G
c.3445C>G (p.Gln1149Glu)
c.3424C>G (p.Gln1142Glu)
c.3406C>G (p.Gln1136Glu)
c.3388C>G (p.Gln1130Glu)
c.3349C>G (p.Gln1117Glu)
c.3310C>G (p.Gln1104Glu)
c.3034C>G (p.Gln1012Glu)
c.2995C>G (p.Gln999Glu)
c.3385C>G (p.Gln1129Glu)
c.3292C>G (p.Gln1098Glu)
c.2767C>G (p.Gln923Glu)
c.3082C>G (p.Gln1028Glu)
n.7654C>G
3g.9473311C>TCA351685259SETD5n.1741C>T
c.3367C>T (p.Gln1123Ter)
n.3775C>T
n.840C>T
n.4346C>T
n.4702C>T
c.3271C>T (p.Gln1091Ter)
c.*3417C>T (n.*3417C>T)
c.*3340C>T (n.*3340C>T)
c.*3645C>T (n.*3645C>T)
c.*3376C>T (n.*3376C>T)
c.2977C>T (p.Gln993Ter)
c.2273C>T
c.3328C>T (p.Gln1110Ter)
c.2307C>T
c.1262C>T
n.2612C>T
n.339C>T
n.76C>T
n.3435C>T
c.3445C>T (p.Gln1149Ter)
c.3424C>T (p.Gln1142Ter)
c.3406C>T (p.Gln1136Ter)
c.3388C>T (p.Gln1130Ter)
c.3349C>T (p.Gln1117Ter)
c.3310C>T (p.Gln1104Ter)
c.3034C>T (p.Gln1012Ter)
c.2995C>T (p.Gln999Ter)
c.3385C>T (p.Gln1129Ter)
c.3292C>T (p.Gln1098Ter)
c.2767C>T (p.Gln923Ter)
c.3082C>T (p.Gln1028Ter)
n.7654C>T
3g.9473312A=CA1344740116SETD5n.1742A=
c.3368A= (p.Gln1123=)
n.3776A=
n.841A=
n.4347A=
n.4703A=
c.3272A= (p.Gln1091=)
c.*3418A= (n.*3418A=)
c.*3341A= (n.*3341A=)
c.*3646A= (n.*3646A=)
c.*3377A= (n.*3377A=)
c.2978A= (p.Gln993=)
c.2274A=
c.3329A= (p.Gln1110=)
c.2308A=
c.1263A=
n.2613A=
n.340A=
n.77A=
n.3436A=
c.3446A= (p.Gln1149=)
c.3425A= (p.Gln1142=)
c.3407A= (p.Gln1136=)
c.3389A= (p.Gln1130=)
c.3350A= (p.Gln1117=)
c.3311A= (p.Gln1104=)
c.3035A= (p.Gln1012=)
c.2996A= (p.Gln999=)
c.3386A= (p.Gln1129=)
c.3293A= (p.Gln1098=)
c.2768A= (p.Gln923=)
c.3083A= (p.Gln1028=)
n.7655A=
3g.9473312A>CCA351685261SETD5n.1742A>C
c.3368A>C (p.Gln1123Pro)
n.3776A>C
n.841A>C
n.4347A>C
n.4703A>C
c.3272A>C (p.Gln1091Pro)
c.*3418A>C (n.*3418A>C)
c.*3341A>C (n.*3341A>C)
c.*3646A>C (n.*3646A>C)
c.*3377A>C (n.*3377A>C)
c.2978A>C (p.Gln993Pro)
c.2274A>C
c.3329A>C (p.Gln1110Pro)
c.2308A>C
c.1263A>C
n.2613A>C
n.340A>C
n.77A>C
n.3436A>C
c.3446A>C (p.Gln1149Pro)
c.3425A>C (p.Gln1142Pro)
c.3407A>C (p.Gln1136Pro)
c.3389A>C (p.Gln1130Pro)
c.3350A>C (p.Gln1117Pro)
c.3311A>C (p.Gln1104Pro)
c.3035A>C (p.Gln1012Pro)
c.2996A>C (p.Gln999Pro)
c.3386A>C (p.Gln1129Pro)
c.3293A>C (p.Gln1098Pro)
c.2768A>C (p.Gln923Pro)
c.3083A>C (p.Gln1028Pro)
n.7655A>C
 dbSNP gnomAD v2 gnomAD v4
3g.9473312A>GCA351685267SETD5n.1742A>G
c.3368A>G (p.Gln1123Arg)
n.3776A>G
n.841A>G
n.4347A>G
n.4703A>G
c.3272A>G (p.Gln1091Arg)
c.*3418A>G (n.*3418A>G)
c.*3341A>G (n.*3341A>G)
c.*3646A>G (n.*3646A>G)
c.*3377A>G (n.*3377A>G)
c.2978A>G (p.Gln993Arg)
c.2274A>G
c.3329A>G (p.Gln1110Arg)
c.2308A>G
c.1263A>G
n.2613A>G
n.340A>G
n.77A>G
n.3436A>G
c.3446A>G (p.Gln1149Arg)
c.3425A>G (p.Gln1142Arg)
c.3407A>G (p.Gln1136Arg)
c.3389A>G (p.Gln1130Arg)
c.3350A>G (p.Gln1117Arg)
c.3311A>G (p.Gln1104Arg)
c.3035A>G (p.Gln1012Arg)
c.2996A>G (p.Gln999Arg)
c.3386A>G (p.Gln1129Arg)
c.3293A>G (p.Gln1098Arg)
c.2768A>G (p.Gln923Arg)
c.3083A>G (p.Gln1028Arg)
n.7655A>G
3g.9473312A>TCA351685270SETD5n.1742A>T
c.3368A>T (p.Gln1123Leu)
n.3776A>T
n.841A>T
n.4347A>T
n.4703A>T
c.3272A>T (p.Gln1091Leu)
c.*3418A>T (n.*3418A>T)
c.*3341A>T (n.*3341A>T)
c.*3646A>T (n.*3646A>T)
c.*3377A>T (n.*3377A>T)
c.2978A>T (p.Gln993Leu)
c.2274A>T
c.3329A>T (p.Gln1110Leu)
c.2308A>T
c.1263A>T
n.2613A>T
n.340A>T
n.77A>T
n.3436A>T
c.3446A>T (p.Gln1149Leu)
c.3425A>T (p.Gln1142Leu)
c.3407A>T (p.Gln1136Leu)
c.3389A>T (p.Gln1130Leu)
c.3350A>T (p.Gln1117Leu)
c.3311A>T (p.Gln1104Leu)
c.3035A>T (p.Gln1012Leu)
c.2996A>T (p.Gln999Leu)
c.3386A>T (p.Gln1129Leu)
c.3293A>T (p.Gln1098Leu)
c.2768A>T (p.Gln923Leu)
c.3083A>T (p.Gln1028Leu)
n.7655A>T
3g.9473313G>ACA432365753SETD5n.1743G>A
c.3369G>A (p.Gln1123=)
n.3777G>A
n.842G>A
n.4348G>A
n.4704G>A
c.3273G>A (p.Gln1091=)
c.*3419G>A (n.*3419G>A)
c.*3342G>A (n.*3342G>A)
c.*3647G>A (n.*3647G>A)
c.*3378G>A (n.*3378G>A)
c.2979G>A (p.Gln993=)
c.2275G>A
c.3330G>A (p.Gln1110=)
c.2309G>A
c.1264G>A
n.2614G>A
n.341G>A
n.78G>A
n.3437G>A
c.3447G>A (p.Gln1149=)
c.3426G>A (p.Gln1142=)
c.3408G>A (p.Gln1136=)
c.3390G>A (p.Gln1130=)
c.3351G>A (p.Gln1117=)
c.3312G>A (p.Gln1104=)
c.3036G>A (p.Gln1012=)
c.2997G>A (p.Gln999=)
c.3387G>A (p.Gln1129=)
c.3294G>A (p.Gln1098=)
c.2769G>A (p.Gln923=)
c.3084G>A (p.Gln1028=)
n.7656G>A
 gnomAD v4
3g.9473313G>CCA351685280SETD5n.1743G>C
c.3369G>C (p.Gln1123His)
n.3777G>C
n.842G>C
n.4348G>C
n.4704G>C
c.3273G>C (p.Gln1091His)
c.*3419G>C (n.*3419G>C)
c.*3342G>C (n.*3342G>C)
c.*3647G>C (n.*3647G>C)
c.*3378G>C (n.*3378G>C)
c.2979G>C (p.Gln993His)
c.2275G>C
c.3330G>C (p.Gln1110His)
c.2309G>C
c.1264G>C
n.2614G>C
n.341G>C
n.78G>C
n.3437G>C
c.3447G>C (p.Gln1149His)
c.3426G>C (p.Gln1142His)
c.3408G>C (p.Gln1136His)
c.3390G>C (p.Gln1130His)
c.3351G>C (p.Gln1117His)
c.3312G>C (p.Gln1104His)
c.3036G>C (p.Gln1012His)
c.2997G>C (p.Gln999His)
c.3387G>C (p.Gln1129His)
c.3294G>C (p.Gln1098His)
c.2769G>C (p.Gln923His)
c.3084G>C (p.Gln1028His)
n.7656G>C
3g.9473313G>TCA351685274SETD5n.1743G>T
c.3369G>T (p.Gln1123His)
n.3777G>T
n.842G>T
n.4348G>T
n.4704G>T
c.3273G>T (p.Gln1091His)
c.*3419G>T (n.*3419G>T)
c.*3342G>T (n.*3342G>T)
c.*3647G>T (n.*3647G>T)
c.*3378G>T (n.*3378G>T)
c.2979G>T (p.Gln993His)
c.2275G>T
c.3330G>T (p.Gln1110His)
c.2309G>T
c.1264G>T
n.2614G>T
n.341G>T
n.78G>T
n.3437G>T
c.3447G>T (p.Gln1149His)
c.3426G>T (p.Gln1142His)
c.3408G>T (p.Gln1136His)
c.3390G>T (p.Gln1130His)
c.3351G>T (p.Gln1117His)
c.3312G>T (p.Gln1104His)
c.3036G>T (p.Gln1012His)
c.2997G>T (p.Gln999His)
c.3387G>T (p.Gln1129His)
c.3294G>T (p.Gln1098His)
c.2769G>T (p.Gln923His)
c.3084G>T (p.Gln1028His)
n.7656G>T
3g.9473314A>CCA351685283SETD5n.1744A>C
c.3370A>C (p.Ser1124Arg)
n.3778A>C
n.843A>C
n.4349A>C
n.4705A>C
c.3274A>C (p.Ser1092Arg)
c.*3420A>C (n.*3420A>C)
c.*3343A>C (n.*3343A>C)
c.*3648A>C (n.*3648A>C)
c.*3379A>C (n.*3379A>C)
c.2980A>C (p.Ser994Arg)
c.2276A>C
c.3331A>C (p.Ser1111Arg)
c.2310A>C
c.1265A>C
n.2615A>C
n.342A>C
n.79A>C
n.3438A>C
c.3448A>C (p.Ser1150Arg)
c.3427A>C (p.Ser1143Arg)
c.3409A>C (p.Ser1137Arg)
c.3391A>C (p.Ser1131Arg)
c.3352A>C (p.Ser1118Arg)
c.3313A>C (p.Ser1105Arg)
c.3037A>C (p.Ser1013Arg)
c.2998A>C (p.Ser1000Arg)
c.3388A>C (p.Ser1130Arg)
c.3295A>C (p.Ser1099Arg)
c.2770A>C (p.Ser924Arg)
c.3085A>C (p.Ser1029Arg)
n.7657A>C
3g.9473314A>GCA351685290SETD5n.1744A>G
c.3370A>G (p.Ser1124Gly)
n.3778A>G
n.843A>G
n.4349A>G
n.4705A>G
c.3274A>G (p.Ser1092Gly)
c.*3420A>G (n.*3420A>G)
c.*3343A>G (n.*3343A>G)
c.*3648A>G (n.*3648A>G)
c.*3379A>G (n.*3379A>G)
c.2980A>G (p.Ser994Gly)
c.2276A>G
c.3331A>G (p.Ser1111Gly)
c.2310A>G
c.1265A>G
n.2615A>G
n.342A>G
n.79A>G
n.3438A>G
c.3448A>G (p.Ser1150Gly)
c.3427A>G (p.Ser1143Gly)
c.3409A>G (p.Ser1137Gly)
c.3391A>G (p.Ser1131Gly)
c.3352A>G (p.Ser1118Gly)
c.3313A>G (p.Ser1105Gly)
c.3037A>G (p.Ser1013Gly)
c.2998A>G (p.Ser1000Gly)
c.3388A>G (p.Ser1130Gly)
c.3295A>G (p.Ser1099Gly)
c.2770A>G (p.Ser924Gly)
c.3085A>G (p.Ser1029Gly)
n.7657A>G
3g.9473314A>TCA351685295SETD5n.1744A>T
c.3370A>T (p.Ser1124Cys)
n.3778A>T
n.843A>T
n.4349A>T
n.4705A>T
c.3274A>T (p.Ser1092Cys)
c.*3420A>T (n.*3420A>T)
c.*3343A>T (n.*3343A>T)
c.*3648A>T (n.*3648A>T)
c.*3379A>T (n.*3379A>T)
c.2980A>T (p.Ser994Cys)
c.2276A>T
c.3331A>T (p.Ser1111Cys)
c.2310A>T
c.1265A>T
n.2615A>T
n.342A>T
n.79A>T
n.3438A>T
c.3448A>T (p.Ser1150Cys)
c.3427A>T (p.Ser1143Cys)
c.3409A>T (p.Ser1137Cys)
c.3391A>T (p.Ser1131Cys)
c.3352A>T (p.Ser1118Cys)
c.3313A>T (p.Ser1105Cys)
c.3037A>T (p.Ser1013Cys)
c.2998A>T (p.Ser1000Cys)
c.3388A>T (p.Ser1130Cys)
c.3295A>T (p.Ser1099Cys)
c.2770A>T (p.Ser924Cys)
c.3085A>T (p.Ser1029Cys)
n.7657A>T
3g.9473315G>ACA2239652SETD5n.1745G>A
c.3371G>A (p.Ser1124Asn)
n.3779G>A
n.844G>A
n.4350G>A
n.4706G>A
c.3275G>A (p.Ser1092Asn)
c.*3421G>A (n.*3421G>A)
c.*3344G>A (n.*3344G>A)
c.*3649G>A (n.*3649G>A)
c.*3380G>A (n.*3380G>A)
c.2981G>A (p.Ser994Asn)
c.2277G>A
c.3332G>A (p.Ser1111Asn)
c.2311G>A
c.1266G>A
n.2616G>A
n.343G>A
n.80G>A
n.3439G>A
c.3449G>A (p.Ser1150Asn)
c.3428G>A (p.Ser1143Asn)
c.3410G>A (p.Ser1137Asn)
c.3392G>A (p.Ser1131Asn)
c.3353G>A (p.Ser1118Asn)
c.3314G>A (p.Ser1105Asn)
c.3038G>A (p.Ser1013Asn)
c.2999G>A (p.Ser1000Asn)
c.3389G>A (p.Ser1130Asn)
c.3296G>A (p.Ser1099Asn)
c.2771G>A (p.Ser924Asn)
c.3086G>A (p.Ser1029Asn)
n.7658G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9473315G>CCA351685301SETD5n.1745G>C
c.3371G>C (p.Ser1124Thr)
n.3779G>C
n.844G>C
n.4350G>C
n.4706G>C
c.3275G>C (p.Ser1092Thr)
c.*3421G>C (n.*3421G>C)
c.*3344G>C (n.*3344G>C)
c.*3649G>C (n.*3649G>C)
c.*3380G>C (n.*3380G>C)
c.2981G>C (p.Ser994Thr)
c.2277G>C
c.3332G>C (p.Ser1111Thr)
c.2311G>C
c.1266G>C
n.2616G>C
n.343G>C
n.80G>C
n.3439G>C
c.3449G>C (p.Ser1150Thr)
c.3428G>C (p.Ser1143Thr)
c.3410G>C (p.Ser1137Thr)
c.3392G>C (p.Ser1131Thr)
c.3353G>C (p.Ser1118Thr)
c.3314G>C (p.Ser1105Thr)
c.3038G>C (p.Ser1013Thr)
c.2999G>C (p.Ser1000Thr)
c.3389G>C (p.Ser1130Thr)
c.3296G>C (p.Ser1099Thr)
c.2771G>C (p.Ser924Thr)
c.3086G>C (p.Ser1029Thr)
n.7658G>C
3g.9473315G=CA1344740119SETD5n.1745G=
c.3371G= (p.Ser1124=)
n.3779G=
n.844G=
n.4350G=
n.4706G=
c.3275G= (p.Ser1092=)
c.*3421G= (n.*3421G=)
c.*3344G= (n.*3344G=)
c.*3649G= (n.*3649G=)
c.*3380G= (n.*3380G=)
c.2981G= (p.Ser994=)
c.2277G=
c.3332G= (p.Ser1111=)
c.2311G=
c.1266G=
n.2616G=
n.343G=
n.80G=
n.3439G=
c.3449G= (p.Ser1150=)
c.3428G= (p.Ser1143=)
c.3410G= (p.Ser1137=)
c.3392G= (p.Ser1131=)
c.3353G= (p.Ser1118=)
c.3314G= (p.Ser1105=)
c.3038G= (p.Ser1013=)
c.2999G= (p.Ser1000=)
c.3389G= (p.Ser1130=)
c.3296G= (p.Ser1099=)
c.2771G= (p.Ser924=)
c.3086G= (p.Ser1029=)
n.7658G=
3g.9473315G>TCA351685305SETD5n.1745G>T
c.3371G>T (p.Ser1124Ile)
n.3779G>T
n.844G>T
n.4350G>T
n.4706G>T
c.3275G>T (p.Ser1092Ile)
c.*3421G>T (n.*3421G>T)
c.*3344G>T (n.*3344G>T)
c.*3649G>T (n.*3649G>T)
c.*3380G>T (n.*3380G>T)
c.2981G>T (p.Ser994Ile)
c.2277G>T
c.3332G>T (p.Ser1111Ile)
c.2311G>T
c.1266G>T
n.2616G>T
n.343G>T
n.80G>T
n.3439G>T
c.3449G>T (p.Ser1150Ile)
c.3428G>T (p.Ser1143Ile)
c.3410G>T (p.Ser1137Ile)
c.3392G>T (p.Ser1131Ile)
c.3353G>T (p.Ser1118Ile)
c.3314G>T (p.Ser1105Ile)
c.3038G>T (p.Ser1013Ile)
c.2999G>T (p.Ser1000Ile)
c.3389G>T (p.Ser1130Ile)
c.3296G>T (p.Ser1099Ile)
c.2771G>T (p.Ser924Ile)
c.3086G>T (p.Ser1029Ile)
n.7658G>T
3g.9473316C>ACA351685309SETD5n.1746C>A
c.3372C>A (p.Ser1124Arg)
n.3780C>A
n.845C>A
n.4351C>A
n.4707C>A
c.3276C>A (p.Ser1092Arg)
c.*3422C>A (n.*3422C>A)
c.*3345C>A (n.*3345C>A)
c.*3650C>A (n.*3650C>A)
c.*3381C>A (n.*3381C>A)
c.2982C>A (p.Ser994Arg)
c.2278C>A
c.3333C>A (p.Ser1111Arg)
c.2312C>A
c.1267C>A
n.2617C>A
n.344C>A
n.81C>A
n.3440C>A
c.3450C>A (p.Ser1150Arg)
c.3429C>A (p.Ser1143Arg)
c.3411C>A (p.Ser1137Arg)
c.3393C>A (p.Ser1131Arg)
c.3354C>A (p.Ser1118Arg)
c.3315C>A (p.Ser1105Arg)
c.3039C>A (p.Ser1013Arg)
c.3000C>A (p.Ser1000Arg)
c.3390C>A (p.Ser1130Arg)
c.3297C>A (p.Ser1099Arg)
c.2772C>A (p.Ser924Arg)
c.3087C>A (p.Ser1029Arg)
n.7659C>A
3g.9473316C=CA1344740125SETD5n.1746C=
c.3372C= (p.Ser1124=)
n.3780C=
n.845C=
n.4351C=
n.4707C=
c.3276C= (p.Ser1092=)
c.*3422C= (n.*3422C=)
c.*3345C= (n.*3345C=)
c.*3650C= (n.*3650C=)
c.*3381C= (n.*3381C=)
c.2982C= (p.Ser994=)
c.2278C=
c.3333C= (p.Ser1111=)
c.2312C=
c.1267C=
n.2617C=
n.344C=
n.81C=
n.3440C=
c.3450C= (p.Ser1150=)
c.3429C= (p.Ser1143=)
c.3411C= (p.Ser1137=)
c.3393C= (p.Ser1131=)
c.3354C= (p.Ser1118=)
c.3315C= (p.Ser1105=)
c.3039C= (p.Ser1013=)
c.3000C= (p.Ser1000=)
c.3390C= (p.Ser1130=)
c.3297C= (p.Ser1099=)
c.2772C= (p.Ser924=)
c.3087C= (p.Ser1029=)
n.7659C=
3g.9473316C>GCA351685312SETD5n.1746C>G
c.3372C>G (p.Ser1124Arg)
n.3780C>G
n.845C>G
n.4351C>G
n.4707C>G
c.3276C>G (p.Ser1092Arg)
c.*3422C>G (n.*3422C>G)
c.*3345C>G (n.*3345C>G)
c.*3650C>G (n.*3650C>G)
c.*3381C>G (n.*3381C>G)
c.2982C>G (p.Ser994Arg)
c.2278C>G
c.3333C>G (p.Ser1111Arg)
c.2312C>G
c.1267C>G
n.2617C>G
n.344C>G
n.81C>G
n.3440C>G
c.3450C>G (p.Ser1150Arg)
c.3429C>G (p.Ser1143Arg)
c.3411C>G (p.Ser1137Arg)
c.3393C>G (p.Ser1131Arg)
c.3354C>G (p.Ser1118Arg)
c.3315C>G (p.Ser1105Arg)
c.3039C>G (p.Ser1013Arg)
c.3000C>G (p.Ser1000Arg)
c.3390C>G (p.Ser1130Arg)
c.3297C>G (p.Ser1099Arg)
c.2772C>G (p.Ser924Arg)
c.3087C>G (p.Ser1029Arg)
n.7659C>G
 ClinVar
3g.9473316C>TCA2239653SETD5n.1746C>T
c.3372C>T (p.Ser1124=)
n.3780C>T
n.845C>T
n.4351C>T
n.4707C>T
c.3276C>T (p.Ser1092=)
c.*3422C>T (n.*3422C>T)
c.*3345C>T (n.*3345C>T)
c.*3650C>T (n.*3650C>T)
c.*3381C>T (n.*3381C>T)
c.2982C>T (p.Ser994=)
c.2278C>T
c.3333C>T (p.Ser1111=)
c.2312C>T
c.1267C>T
n.2617C>T
n.344C>T
n.81C>T
n.3440C>T
c.3450C>T (p.Ser1150=)
c.3429C>T (p.Ser1143=)
c.3411C>T (p.Ser1137=)
c.3393C>T (p.Ser1131=)
c.3354C>T (p.Ser1118=)
c.3315C>T (p.Ser1105=)
c.3039C>T (p.Ser1013=)
c.3000C>T (p.Ser1000=)
c.3390C>T (p.Ser1130=)
c.3297C>T (p.Ser1099=)
c.2772C>T (p.Ser924=)
c.3087C>T (p.Ser1029=)
n.7659C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9473317A=CA1344740131SETD5n.1747A=
c.3373A= (p.Lys1125=)
n.3781A=
n.846A=
n.4352A=
n.4708A=
c.3277A= (p.Lys1093=)
c.*3423A= (n.*3423A=)
c.*3346A= (n.*3346A=)
c.*3651A= (n.*3651A=)
c.*3382A= (n.*3382A=)
c.2983A= (p.Lys995=)
c.2279A=
c.3334A= (p.Lys1112=)
c.2313A=
c.1268A=
n.2618A=
n.345A=
n.82A=
n.3441A=
c.3451A= (p.Lys1151=)
c.3430A= (p.Lys1144=)
c.3412A= (p.Lys1138=)
c.3394A= (p.Lys1132=)
c.3355A= (p.Lys1119=)
c.3316A= (p.Lys1106=)
c.3040A= (p.Lys1014=)
c.3001A= (p.Lys1001=)
c.3391A= (p.Lys1131=)
c.3298A= (p.Lys1100=)
c.2773A= (p.Lys925=)
c.3088A= (p.Lys1030=)
n.7660A=
3g.9473317A>CCA351685315SETD5n.1747A>C
c.3373A>C (p.Lys1125Gln)
n.3781A>C
n.846A>C
n.4352A>C
n.4708A>C
c.3277A>C (p.Lys1093Gln)
c.*3423A>C (n.*3423A>C)
c.*3346A>C (n.*3346A>C)
c.*3651A>C (n.*3651A>C)
c.*3382A>C (n.*3382A>C)
c.2983A>C (p.Lys995Gln)
c.2279A>C
c.3334A>C (p.Lys1112Gln)
c.2313A>C
c.1268A>C
n.2618A>C
n.345A>C
n.82A>C
n.3441A>C
c.3451A>C (p.Lys1151Gln)
c.3430A>C (p.Lys1144Gln)
c.3412A>C (p.Lys1138Gln)
c.3394A>C (p.Lys1132Gln)
c.3355A>C (p.Lys1119Gln)
c.3316A>C (p.Lys1106Gln)
c.3040A>C (p.Lys1014Gln)
c.3001A>C (p.Lys1001Gln)
c.3391A>C (p.Lys1131Gln)
c.3298A>C (p.Lys1100Gln)
c.2773A>C (p.Lys925Gln)
c.3088A>C (p.Lys1030Gln)
n.7660A>C
3g.9473317A>GCA351685318SETD5n.1747A>G
c.3373A>G (p.Lys1125Glu)
n.3781A>G
n.846A>G
n.4352A>G
n.4708A>G
c.3277A>G (p.Lys1093Glu)
c.*3423A>G (n.*3423A>G)
c.*3346A>G (n.*3346A>G)
c.*3651A>G (n.*3651A>G)
c.*3382A>G (n.*3382A>G)
c.2983A>G (p.Lys995Glu)
c.2279A>G
c.3334A>G (p.Lys1112Glu)
c.2313A>G
c.1268A>G
n.2618A>G
n.345A>G
n.82A>G
n.3441A>G
c.3451A>G (p.Lys1151Glu)
c.3430A>G (p.Lys1144Glu)
c.3412A>G (p.Lys1138Glu)
c.3394A>G (p.Lys1132Glu)
c.3355A>G (p.Lys1119Glu)
c.3316A>G (p.Lys1106Glu)
c.3040A>G (p.Lys1014Glu)
c.3001A>G (p.Lys1001Glu)
c.3391A>G (p.Lys1131Glu)
c.3298A>G (p.Lys1100Glu)
c.2773A>G (p.Lys925Glu)
c.3088A>G (p.Lys1030Glu)
n.7660A>G
3g.9473317A>TCA16618014SETD5n.1747A>T
c.3373A>T (p.Lys1125Ter)
n.3781A>T
n.846A>T
n.4352A>T
n.4708A>T
c.3277A>T (p.Lys1093Ter)
c.*3423A>T (n.*3423A>T)
c.*3346A>T (n.*3346A>T)
c.*3651A>T (n.*3651A>T)
c.*3382A>T (n.*3382A>T)
c.2983A>T (p.Lys995Ter)
c.2279A>T
c.3334A>T (p.Lys1112Ter)
c.2313A>T
c.1268A>T
n.2618A>T
n.345A>T
n.82A>T
n.3441A>T
c.3451A>T (p.Lys1151Ter)
c.3430A>T (p.Lys1144Ter)
c.3412A>T (p.Lys1138Ter)
c.3394A>T (p.Lys1132Ter)
c.3355A>T (p.Lys1119Ter)
c.3316A>T (p.Lys1106Ter)
c.3040A>T (p.Lys1014Ter)
c.3001A>T (p.Lys1001Ter)
c.3391A>T (p.Lys1131Ter)
c.3298A>T (p.Lys1100Ter)
c.2773A>T (p.Lys925Ter)
c.3088A>T (p.Lys1030Ter)
n.7660A>T
 ClinVar dbSNP
3g.9473318A>CCA351685327SETD5n.1748A>C
c.3374A>C (p.Lys1125Thr)
n.3782A>C
n.847A>C
n.4353A>C
n.4709A>C
c.3278A>C (p.Lys1093Thr)
c.*3424A>C (n.*3424A>C)
c.*3347A>C (n.*3347A>C)
c.*3652A>C (n.*3652A>C)
c.*3383A>C (n.*3383A>C)
c.2984A>C (p.Lys995Thr)
c.2280A>C
c.3335A>C (p.Lys1112Thr)
c.2314A>C
c.1269A>C
n.2619A>C
n.346A>C
n.83A>C
n.3442A>C
c.3452A>C (p.Lys1151Thr)
c.3431A>C (p.Lys1144Thr)
c.3413A>C (p.Lys1138Thr)
c.3395A>C (p.Lys1132Thr)
c.3356A>C (p.Lys1119Thr)
c.3317A>C (p.Lys1106Thr)
c.3041A>C (p.Lys1014Thr)
c.3002A>C (p.Lys1001Thr)
c.3392A>C (p.Lys1131Thr)
c.3299A>C (p.Lys1100Thr)
c.2774A>C (p.Lys925Thr)
c.3089A>C (p.Lys1030Thr)
n.7661A>C
3g.9473318A>GCA351685328SETD5n.1748A>G
c.3374A>G (p.Lys1125Arg)
n.3782A>G
n.847A>G
n.4353A>G
n.4709A>G
c.3278A>G (p.Lys1093Arg)
c.*3424A>G (n.*3424A>G)
c.*3347A>G (n.*3347A>G)
c.*3652A>G (n.*3652A>G)
c.*3383A>G (n.*3383A>G)
c.2984A>G (p.Lys995Arg)
c.2280A>G
c.3335A>G (p.Lys1112Arg)
c.2314A>G
c.1269A>G
n.2619A>G
n.346A>G
n.83A>G
n.3442A>G
c.3452A>G (p.Lys1151Arg)
c.3431A>G (p.Lys1144Arg)
c.3413A>G (p.Lys1138Arg)
c.3395A>G (p.Lys1132Arg)
c.3356A>G (p.Lys1119Arg)
c.3317A>G (p.Lys1106Arg)
c.3041A>G (p.Lys1014Arg)
c.3002A>G (p.Lys1001Arg)
c.3392A>G (p.Lys1131Arg)
c.3299A>G (p.Lys1100Arg)
c.2774A>G (p.Lys925Arg)
c.3089A>G (p.Lys1030Arg)
n.7661A>G
3g.9473318A>TCA351685329SETD5n.1748A>T
c.3374A>T (p.Lys1125Ile)
n.3782A>T
n.847A>T
n.4353A>T
n.4709A>T
c.3278A>T (p.Lys1093Ile)
c.*3424A>T (n.*3424A>T)
c.*3347A>T (n.*3347A>T)
c.*3652A>T (n.*3652A>T)
c.*3383A>T (n.*3383A>T)
c.2984A>T (p.Lys995Ile)
c.2280A>T
c.3335A>T (p.Lys1112Ile)
c.2314A>T
c.1269A>T
n.2619A>T
n.346A>T
n.83A>T
n.3442A>T
c.3452A>T (p.Lys1151Ile)
c.3431A>T (p.Lys1144Ile)
c.3413A>T (p.Lys1138Ile)
c.3395A>T (p.Lys1132Ile)
c.3356A>T (p.Lys1119Ile)
c.3317A>T (p.Lys1106Ile)
c.3041A>T (p.Lys1014Ile)
c.3002A>T (p.Lys1001Ile)
c.3392A>T (p.Lys1131Ile)
c.3299A>T (p.Lys1100Ile)
c.2774A>T (p.Lys925Ile)
c.3089A>T (p.Lys1030Ile)
n.7661A>T
3g.9473319A=CA1344740135SETD5n.1749A=
c.3375A= (p.Lys1125=)
n.3783A=
n.848A=
n.4354A=
n.4710A=
c.3279A= (p.Lys1093=)
c.*3425A= (n.*3425A=)
c.*3348A= (n.*3348A=)
c.*3653A= (n.*3653A=)
c.*3384A= (n.*3384A=)
c.2985A= (p.Lys995=)
c.2281A=
c.3336A= (p.Lys1112=)
c.2315A=
c.1270A=
n.2620A=
n.347A=
n.84A=
n.3443A=
c.3453A= (p.Lys1151=)
c.3432A= (p.Lys1144=)
c.3414A= (p.Lys1138=)
c.3396A= (p.Lys1132=)
c.3357A= (p.Lys1119=)
c.3318A= (p.Lys1106=)
c.3042A= (p.Lys1014=)
c.3003A= (p.Lys1001=)
c.3393A= (p.Lys1131=)
c.3300A= (p.Lys1100=)
c.2775A= (p.Lys925=)
c.3090A= (p.Lys1030=)
n.7662A=
3g.9473319A>CCA69951057SETD5n.1749A>C
c.3375A>C (p.Lys1125Asn)
n.3783A>C
n.848A>C
n.4354A>C
n.4710A>C
c.3279A>C (p.Lys1093Asn)
c.*3425A>C (n.*3425A>C)
c.*3348A>C (n.*3348A>C)
c.*3653A>C (n.*3653A>C)
c.*3384A>C (n.*3384A>C)
c.2985A>C (p.Lys995Asn)
c.2281A>C
c.3336A>C (p.Lys1112Asn)
c.2315A>C
c.1270A>C
n.2620A>C
n.347A>C
n.84A>C
n.3443A>C
c.3453A>C (p.Lys1151Asn)
c.3432A>C (p.Lys1144Asn)
c.3414A>C (p.Lys1138Asn)
c.3396A>C (p.Lys1132Asn)
c.3357A>C (p.Lys1119Asn)
c.3318A>C (p.Lys1106Asn)
c.3042A>C (p.Lys1014Asn)
c.3003A>C (p.Lys1001Asn)
c.3393A>C (p.Lys1131Asn)
c.3300A>C (p.Lys1100Asn)
c.2775A>C (p.Lys925Asn)
c.3090A>C (p.Lys1030Asn)
n.7662A>C
 ClinVar dbSNP gnomAD v4
3g.9473319A>GCA432365754SETD5n.1749A>G
c.3375A>G (p.Lys1125=)
n.3783A>G
n.848A>G
n.4354A>G
n.4710A>G
c.3279A>G (p.Lys1093=)
c.*3425A>G (n.*3425A>G)
c.*3348A>G (n.*3348A>G)
c.*3653A>G (n.*3653A>G)
c.*3384A>G (n.*3384A>G)
c.2985A>G (p.Lys995=)
c.2281A>G
c.3336A>G (p.Lys1112=)
c.2315A>G
c.1270A>G
n.2620A>G
n.347A>G
n.84A>G
n.3443A>G
c.3453A>G (p.Lys1151=)
c.3432A>G (p.Lys1144=)
c.3414A>G (p.Lys1138=)
c.3396A>G (p.Lys1132=)
c.3357A>G (p.Lys1119=)
c.3318A>G (p.Lys1106=)
c.3042A>G (p.Lys1014=)
c.3003A>G (p.Lys1001=)
c.3393A>G (p.Lys1131=)
c.3300A>G (p.Lys1100=)
c.2775A>G (p.Lys925=)
c.3090A>G (p.Lys1030=)
n.7662A>G
3g.9473319A>TCA351685337SETD5n.1749A>T
c.3375A>T (p.Lys1125Asn)
n.3783A>T
n.848A>T
n.4354A>T
n.4710A>T
c.3279A>T (p.Lys1093Asn)
c.*3425A>T (n.*3425A>T)
c.*3348A>T (n.*3348A>T)
c.*3653A>T (n.*3653A>T)
c.*3384A>T (n.*3384A>T)
c.2985A>T (p.Lys995Asn)
c.2281A>T
c.3336A>T (p.Lys1112Asn)
c.2315A>T
c.1270A>T
n.2620A>T
n.347A>T
n.84A>T
n.3443A>T
c.3453A>T (p.Lys1151Asn)
c.3432A>T (p.Lys1144Asn)
c.3414A>T (p.Lys1138Asn)
c.3396A>T (p.Lys1132Asn)
c.3357A>T (p.Lys1119Asn)
c.3318A>T (p.Lys1106Asn)
c.3042A>T (p.Lys1014Asn)
c.3003A>T (p.Lys1001Asn)
c.3393A>T (p.Lys1131Asn)
c.3300A>T (p.Lys1100Asn)
c.2775A>T (p.Lys925Asn)
c.3090A>T (p.Lys1030Asn)
n.7662A>T
3g.9473320A=CA1344740137SETD5n.1750A=
c.3376A= (p.Ser1126=)
n.3784A=
n.849A=
n.4355A=
n.4711A=
c.3280A= (p.Ser1094=)
c.*3426A= (n.*3426A=)
c.*3349A= (n.*3349A=)
c.*3654A= (n.*3654A=)
c.*3385A= (n.*3385A=)
c.2986A= (p.Ser996=)
c.2282A=
c.3337A= (p.Ser1113=)
c.2316A=
c.1271A=
n.2621A=
n.348A=
n.85A=
n.3444A=
c.3454A= (p.Ser1152=)
c.3433A= (p.Ser1145=)
c.3415A= (p.Ser1139=)
c.3397A= (p.Ser1133=)
c.3358A= (p.Ser1120=)
c.3319A= (p.Ser1107=)
c.3043A= (p.Ser1015=)
c.3004A= (p.Ser1002=)
c.3394A= (p.Ser1132=)
c.3301A= (p.Ser1101=)
c.2776A= (p.Ser926=)
c.3091A= (p.Ser1031=)
n.7663A=
3g.9473320A>CCA351685338SETD5n.1750A>C
c.3376A>C (p.Ser1126Arg)
n.3784A>C
n.849A>C
n.4355A>C
n.4711A>C
c.3280A>C (p.Ser1094Arg)
c.*3426A>C (n.*3426A>C)
c.*3349A>C (n.*3349A>C)
c.*3654A>C (n.*3654A>C)
c.*3385A>C (n.*3385A>C)
c.2986A>C (p.Ser996Arg)
c.2282A>C
c.3337A>C (p.Ser1113Arg)
c.2316A>C
c.1271A>C
n.2621A>C
n.348A>C
n.85A>C
n.3444A>C
c.3454A>C (p.Ser1152Arg)
c.3433A>C (p.Ser1145Arg)
c.3415A>C (p.Ser1139Arg)
c.3397A>C (p.Ser1133Arg)
c.3358A>C (p.Ser1120Arg)
c.3319A>C (p.Ser1107Arg)
c.3043A>C (p.Ser1015Arg)
c.3004A>C (p.Ser1002Arg)
c.3394A>C (p.Ser1132Arg)
c.3301A>C (p.Ser1101Arg)
c.2776A>C (p.Ser926Arg)
c.3091A>C (p.Ser1031Arg)
n.7663A>C
3g.9473320A>GCA351685339SETD5n.1750A>G
c.3376A>G (p.Ser1126Gly)
n.3784A>G
n.849A>G
n.4355A>G
n.4711A>G
c.3280A>G (p.Ser1094Gly)
c.*3426A>G (n.*3426A>G)
c.*3349A>G (n.*3349A>G)
c.*3654A>G (n.*3654A>G)
c.*3385A>G (n.*3385A>G)
c.2986A>G (p.Ser996Gly)
c.2282A>G
c.3337A>G (p.Ser1113Gly)
c.2316A>G
c.1271A>G
n.2621A>G
n.348A>G
n.85A>G
n.3444A>G
c.3454A>G (p.Ser1152Gly)
c.3433A>G (p.Ser1145Gly)
c.3415A>G (p.Ser1139Gly)
c.3397A>G (p.Ser1133Gly)
c.3358A>G (p.Ser1120Gly)
c.3319A>G (p.Ser1107Gly)
c.3043A>G (p.Ser1015Gly)
c.3004A>G (p.Ser1002Gly)
c.3394A>G (p.Ser1132Gly)
c.3301A>G (p.Ser1101Gly)
c.2776A>G (p.Ser926Gly)
c.3091A>G (p.Ser1031Gly)
n.7663A>G
 dbSNP gnomAD v2 gnomAD v4
3g.9473320A>TCA351685341SETD5n.1750A>T
c.3376A>T (p.Ser1126Cys)
n.3784A>T
n.849A>T
n.4355A>T
n.4711A>T
c.3280A>T (p.Ser1094Cys)
c.*3426A>T (n.*3426A>T)
c.*3349A>T (n.*3349A>T)
c.*3654A>T (n.*3654A>T)
c.*3385A>T (n.*3385A>T)
c.2986A>T (p.Ser996Cys)
c.2282A>T
c.3337A>T (p.Ser1113Cys)
c.2316A>T
c.1271A>T
n.2621A>T
n.348A>T
n.85A>T
n.3444A>T
c.3454A>T (p.Ser1152Cys)
c.3433A>T (p.Ser1145Cys)
c.3415A>T (p.Ser1139Cys)
c.3397A>T (p.Ser1133Cys)
c.3358A>T (p.Ser1120Cys)
c.3319A>T (p.Ser1107Cys)
c.3043A>T (p.Ser1015Cys)
c.3004A>T (p.Ser1002Cys)
c.3394A>T (p.Ser1132Cys)
c.3301A>T (p.Ser1101Cys)
c.2776A>T (p.Ser926Cys)
c.3091A>T (p.Ser1031Cys)
n.7663A>T
3g.9473321G>ACA2239654SETD5n.1751G>A
c.3377G>A (p.Ser1126Asn)
n.3785G>A
n.850G>A
n.4356G>A
n.4712G>A
c.3281G>A (p.Ser1094Asn)
c.*3427G>A (n.*3427G>A)
c.*3350G>A (n.*3350G>A)
c.*3655G>A (n.*3655G>A)
c.*3386G>A (n.*3386G>A)
c.2987G>A (p.Ser996Asn)
c.2283G>A
c.3338G>A (p.Ser1113Asn)
c.2317G>A
c.1272G>A
n.2622G>A
n.349G>A
n.86G>A
n.3445G>A
c.3455G>A (p.Ser1152Asn)
c.3434G>A (p.Ser1145Asn)
c.3416G>A (p.Ser1139Asn)
c.3398G>A (p.Ser1133Asn)
c.3359G>A (p.Ser1120Asn)
c.3320G>A (p.Ser1107Asn)
c.3044G>A (p.Ser1015Asn)
c.3005G>A (p.Ser1002Asn)
c.3395G>A (p.Ser1132Asn)
c.3302G>A (p.Ser1101Asn)
c.2777G>A (p.Ser926Asn)
c.3092G>A (p.Ser1031Asn)
n.7664G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.9473321G>CCA351685345SETD5n.1751G>C
c.3377G>C (p.Ser1126Thr)
n.3785G>C
n.850G>C
n.4356G>C
n.4712G>C
c.3281G>C (p.Ser1094Thr)
c.*3427G>C (n.*3427G>C)
c.*3350G>C (n.*3350G>C)
c.*3655G>C (n.*3655G>C)
c.*3386G>C (n.*3386G>C)
c.2987G>C (p.Ser996Thr)
c.2283G>C
c.3338G>C (p.Ser1113Thr)
c.2317G>C
c.1272G>C
n.2622G>C
n.349G>C
n.86G>C
n.3445G>C
c.3455G>C (p.Ser1152Thr)
c.3434G>C (p.Ser1145Thr)
c.3416G>C (p.Ser1139Thr)
c.3398G>C (p.Ser1133Thr)
c.3359G>C (p.Ser1120Thr)
c.3320G>C (p.Ser1107Thr)
c.3044G>C (p.Ser1015Thr)
c.3005G>C (p.Ser1002Thr)
c.3395G>C (p.Ser1132Thr)
c.3302G>C (p.Ser1101Thr)
c.2777G>C (p.Ser926Thr)
c.3092G>C (p.Ser1031Thr)
n.7664G>C
3g.9473321G=CA1344740139SETD5n.1751G=
c.3377G= (p.Ser1126=)
n.3785G=
n.850G=
n.4356G=
n.4712G=
c.3281G= (p.Ser1094=)
c.*3427G= (n.*3427G=)
c.*3350G= (n.*3350G=)
c.*3655G= (n.*3655G=)
c.*3386G= (n.*3386G=)
c.2987G= (p.Ser996=)
c.2283G=
c.3338G= (p.Ser1113=)
c.2317G=
c.1272G=
n.2622G=
n.349G=
n.86G=
n.3445G=
c.3455G= (p.Ser1152=)
c.3434G= (p.Ser1145=)
c.3416G= (p.Ser1139=)
c.3398G= (p.Ser1133=)
c.3359G= (p.Ser1120=)
c.3320G= (p.Ser1107=)
c.3044G= (p.Ser1015=)
c.3005G= (p.Ser1002=)
c.3395G= (p.Ser1132=)
c.3302G= (p.Ser1101=)
c.2777G= (p.Ser926=)
c.3092G= (p.Ser1031=)
n.7664G=
3g.9473321G>TCA351685344SETD5n.1751G>T
c.3377G>T (p.Ser1126Ile)
n.3785G>T
n.850G>T
n.4356G>T
n.4712G>T
c.3281G>T (p.Ser1094Ile)
c.*3427G>T (n.*3427G>T)
c.*3350G>T (n.*3350G>T)
c.*3655G>T (n.*3655G>T)
c.*3386G>T (n.*3386G>T)
c.2987G>T (p.Ser996Ile)
c.2283G>T
c.3338G>T (p.Ser1113Ile)
c.2317G>T
c.1272G>T
n.2622G>T
n.349G>T
n.86G>T
n.3445G>T
c.3455G>T (p.Ser1152Ile)
c.3434G>T (p.Ser1145Ile)
c.3416G>T (p.Ser1139Ile)
c.3398G>T (p.Ser1133Ile)
c.3359G>T (p.Ser1120Ile)
c.3320G>T (p.Ser1107Ile)
c.3044G>T (p.Ser1015Ile)
c.3005G>T (p.Ser1002Ile)
c.3395G>T (p.Ser1132Ile)
c.3302G>T (p.Ser1101Ile)
c.2777G>T (p.Ser926Ile)
c.3092G>T (p.Ser1031Ile)
n.7664G>T
 gnomAD v4
3g.9473322C>ACA351685348SETD5n.1752C>A
c.3378C>A (p.Ser1126Arg)
n.3786C>A
n.851C>A
n.4357C>A
n.4713C>A
c.3282C>A (p.Ser1094Arg)
c.*3428C>A (n.*3428C>A)
c.*3351C>A (n.*3351C>A)
c.*3656C>A (n.*3656C>A)
c.*3387C>A (n.*3387C>A)
c.2988C>A (p.Ser996Arg)
c.2284C>A
c.3339C>A (p.Ser1113Arg)
c.2318C>A
c.1273C>A
n.2623C>A
n.350C>A
n.87C>A
n.3446C>A
c.3456C>A (p.Ser1152Arg)
c.3435C>A (p.Ser1145Arg)
c.3417C>A (p.Ser1139Arg)
c.3399C>A (p.Ser1133Arg)
c.3360C>A (p.Ser1120Arg)
c.3321C>A (p.Ser1107Arg)
c.3045C>A (p.Ser1015Arg)
c.3006C>A (p.Ser1002Arg)
c.3396C>A (p.Ser1132Arg)
c.3303C>A (p.Ser1101Arg)
c.2778C>A (p.Ser926Arg)
c.3093C>A (p.Ser1031Arg)
n.7665C>A
3g.9473322C>GCA351685349SETD5n.1752C>G
c.3378C>G (p.Ser1126Arg)
n.3786C>G
n.851C>G
n.4357C>G
n.4713C>G
c.3282C>G (p.Ser1094Arg)
c.*3428C>G (n.*3428C>G)
c.*3351C>G (n.*3351C>G)
c.*3656C>G (n.*3656C>G)
c.*3387C>G (n.*3387C>G)
c.2988C>G (p.Ser996Arg)
c.2284C>G
c.3339C>G (p.Ser1113Arg)
c.2318C>G
c.1273C>G
n.2623C>G
n.350C>G
n.87C>G
n.3446C>G
c.3456C>G (p.Ser1152Arg)
c.3435C>G (p.Ser1145Arg)
c.3417C>G (p.Ser1139Arg)
c.3399C>G (p.Ser1133Arg)
c.3360C>G (p.Ser1120Arg)
c.3321C>G (p.Ser1107Arg)
c.3045C>G (p.Ser1015Arg)
c.3006C>G (p.Ser1002Arg)
c.3396C>G (p.Ser1132Arg)
c.3303C>G (p.Ser1101Arg)
c.2778C>G (p.Ser926Arg)
c.3093C>G (p.Ser1031Arg)
n.7665C>G
3g.9473322C>TCA432365755SETD5n.1752C>T
c.3378C>T (p.Ser1126=)
n.3786C>T
n.851C>T
n.4357C>T
n.4713C>T
c.3282C>T (p.Ser1094=)
c.*3428C>T (n.*3428C>T)
c.*3351C>T (n.*3351C>T)
c.*3656C>T (n.*3656C>T)
c.*3387C>T (n.*3387C>T)
c.2988C>T (p.Ser996=)
c.2284C>T
c.3339C>T (p.Ser1113=)
c.2318C>T
c.1273C>T
n.2623C>T
n.350C>T
n.87C>T
n.3446C>T
c.3456C>T (p.Ser1152=)
c.3435C>T (p.Ser1145=)
c.3417C>T (p.Ser1139=)
c.3399C>T (p.Ser1133=)
c.3360C>T (p.Ser1120=)
c.3321C>T (p.Ser1107=)
c.3045C>T (p.Ser1015=)
c.3006C>T (p.Ser1002=)
c.3396C>T (p.Ser1132=)
c.3303C>T (p.Ser1101=)
c.2778C>T (p.Ser926=)
c.3093C>T (p.Ser1031=)
n.7665C>T
 ClinVar dbSNP
3g.9473323A>CCA351685353SETD5n.1753A>C
c.3379A>C (p.Lys1127Gln)
n.3787A>C
n.852A>C
n.4358A>C
n.4714A>C
c.3283A>C (p.Lys1095Gln)
c.*3429A>C (n.*3429A>C)
c.*3352A>C (n.*3352A>C)
c.*3657A>C (n.*3657A>C)
c.*3388A>C (n.*3388A>C)
c.2989A>C (p.Lys997Gln)
c.2285A>C
c.3340A>C (p.Lys1114Gln)
c.2319A>C
c.1274A>C
n.2624A>C
n.351A>C
n.88A>C
n.3447A>C
c.3457A>C (p.Lys1153Gln)
c.3436A>C (p.Lys1146Gln)
c.3418A>C (p.Lys1140Gln)
c.3400A>C (p.Lys1134Gln)
c.3361A>C (p.Lys1121Gln)
c.3322A>C (p.Lys1108Gln)
c.3046A>C (p.Lys1016Gln)
c.3007A>C (p.Lys1003Gln)
c.3397A>C (p.Lys1133Gln)
c.3304A>C (p.Lys1102Gln)
c.2779A>C (p.Lys927Gln)
c.3094A>C (p.Lys1032Gln)
n.7666A>C
 gnomAD v4
3g.9473323A>GCA351685356SETD5n.1753A>G
c.3379A>G (p.Lys1127Glu)
n.3787A>G
n.852A>G
n.4358A>G
n.4714A>G
c.3283A>G (p.Lys1095Glu)
c.*3429A>G (n.*3429A>G)
c.*3352A>G (n.*3352A>G)
c.*3657A>G (n.*3657A>G)
c.*3388A>G (n.*3388A>G)
c.2989A>G (p.Lys997Glu)
c.2285A>G
c.3340A>G (p.Lys1114Glu)
c.2319A>G
c.1274A>G
n.2624A>G
n.351A>G
n.88A>G
n.3447A>G
c.3457A>G (p.Lys1153Glu)
c.3436A>G (p.Lys1146Glu)
c.3418A>G (p.Lys1140Glu)
c.3400A>G (p.Lys1134Glu)
c.3361A>G (p.Lys1121Glu)
c.3322A>G (p.Lys1108Glu)
c.3046A>G (p.Lys1016Glu)
c.3007A>G (p.Lys1003Glu)
c.3397A>G (p.Lys1133Glu)
c.3304A>G (p.Lys1102Glu)
c.2779A>G (p.Lys927Glu)
c.3094A>G (p.Lys1032Glu)
n.7666A>G
3g.9473323A>TCA351685360SETD5n.1753A>T
c.3379A>T (p.Lys1127Ter)
n.3787A>T
n.852A>T
n.4358A>T
n.4714A>T
c.3283A>T (p.Lys1095Ter)
c.*3429A>T (n.*3429A>T)
c.*3352A>T (n.*3352A>T)
c.*3657A>T (n.*3657A>T)
c.*3388A>T (n.*3388A>T)
c.2989A>T (p.Lys997Ter)
c.2285A>T
c.3340A>T (p.Lys1114Ter)
c.2319A>T
c.1274A>T
n.2624A>T
n.351A>T
n.88A>T
n.3447A>T
c.3457A>T (p.Lys1153Ter)
c.3436A>T (p.Lys1146Ter)
c.3418A>T (p.Lys1140Ter)
c.3400A>T (p.Lys1134Ter)
c.3361A>T (p.Lys1121Ter)
c.3322A>T (p.Lys1108Ter)
c.3046A>T (p.Lys1016Ter)
c.3007A>T (p.Lys1003Ter)
c.3397A>T (p.Lys1133Ter)
c.3304A>T (p.Lys1102Ter)
c.2779A>T (p.Lys927Ter)
c.3094A>T (p.Lys1032Ter)
n.7666A>T
3g.9473324A>CCA351685364SETD5n.1754A>C
c.3380A>C (p.Lys1127Thr)
n.3788A>C
n.853A>C
n.4359A>C
n.4715A>C
c.3284A>C (p.Lys1095Thr)
c.*3430A>C (n.*3430A>C)
c.*3353A>C (n.*3353A>C)
c.*3658A>C (n.*3658A>C)
c.*3389A>C (n.*3389A>C)
c.2990A>C (p.Lys997Thr)
c.2286A>C
c.3341A>C (p.Lys1114Thr)
c.2320A>C
c.1275A>C
n.2625A>C
n.352A>C
n.89A>C
n.3448A>C
c.3458A>C (p.Lys1153Thr)
c.3437A>C (p.Lys1146Thr)
c.3419A>C (p.Lys1140Thr)
c.3401A>C (p.Lys1134Thr)
c.3362A>C (p.Lys1121Thr)
c.3323A>C (p.Lys1108Thr)
c.3047A>C (p.Lys1016Thr)
c.3008A>C (p.Lys1003Thr)
c.3398A>C (p.Lys1133Thr)
c.3305A>C (p.Lys1102Thr)
c.2780A>C (p.Lys927Thr)
c.3095A>C (p.Lys1032Thr)
n.7667A>C
3g.9473324A>GCA351685365SETD5n.1754A>G
c.3380A>G (p.Lys1127Arg)
n.3788A>G
n.853A>G
n.4359A>G
n.4715A>G
c.3284A>G (p.Lys1095Arg)
c.*3430A>G (n.*3430A>G)
c.*3353A>G (n.*3353A>G)
c.*3658A>G (n.*3658A>G)
c.*3389A>G (n.*3389A>G)
c.2990A>G (p.Lys997Arg)
c.2286A>G
c.3341A>G (p.Lys1114Arg)
c.2320A>G
c.1275A>G
n.2625A>G
n.352A>G
n.89A>G
n.3448A>G
c.3458A>G (p.Lys1153Arg)
c.3437A>G (p.Lys1146Arg)
c.3419A>G (p.Lys1140Arg)
c.3401A>G (p.Lys1134Arg)
c.3362A>G (p.Lys1121Arg)
c.3323A>G (p.Lys1108Arg)
c.3047A>G (p.Lys1016Arg)
c.3008A>G (p.Lys1003Arg)
c.3398A>G (p.Lys1133Arg)
c.3305A>G (p.Lys1102Arg)
c.2780A>G (p.Lys927Arg)
c.3095A>G (p.Lys1032Arg)
n.7667A>G
3g.9473324A>TCA351685378SETD5n.1754A>T
c.3380A>T (p.Lys1127Met)
n.3788A>T
n.853A>T
n.4359A>T
n.4715A>T
c.3284A>T (p.Lys1095Met)
c.*3430A>T (n.*3430A>T)
c.*3353A>T (n.*3353A>T)
c.*3658A>T (n.*3658A>T)
c.*3389A>T (n.*3389A>T)
c.2990A>T (p.Lys997Met)
c.2286A>T
c.3341A>T (p.Lys1114Met)
c.2320A>T
c.1275A>T
n.2625A>T
n.352A>T
n.89A>T
n.3448A>T
c.3458A>T (p.Lys1153Met)
c.3437A>T (p.Lys1146Met)
c.3419A>T (p.Lys1140Met)
c.3401A>T (p.Lys1134Met)
c.3362A>T (p.Lys1121Met)
c.3323A>T (p.Lys1108Met)
c.3047A>T (p.Lys1016Met)
c.3008A>T (p.Lys1003Met)
c.3398A>T (p.Lys1133Met)
c.3305A>T (p.Lys1102Met)
c.2780A>T (p.Lys927Met)
c.3095A>T (p.Lys1032Met)
n.7667A>T
3g.9473325G>ACA432365756SETD5n.1755G>A
c.3381G>A (p.Lys1127=)
n.3789G>A
n.854G>A
n.4360G>A
n.4716G>A
c.3285G>A (p.Lys1095=)
c.*3431G>A (n.*3431G>A)
c.*3354G>A (n.*3354G>A)
c.*3659G>A (n.*3659G>A)
c.*3390G>A (n.*3390G>A)
c.2991G>A (p.Lys997=)
c.2287G>A
c.3342G>A (p.Lys1114=)
c.2321G>A
c.1276G>A
n.2626G>A
n.353G>A
n.90G>A
n.3449G>A
c.3459G>A (p.Lys1153=)
c.3438G>A (p.Lys1146=)
c.3420G>A (p.Lys1140=)
c.3402G>A (p.Lys1134=)
c.3363G>A (p.Lys1121=)
c.3324G>A (p.Lys1108=)
c.3048G>A (p.Lys1016=)
c.3009G>A (p.Lys1003=)
c.3399G>A (p.Lys1133=)
c.3306G>A (p.Lys1102=)
c.2781G>A (p.Lys927=)
c.3096G>A (p.Lys1032=)
n.7668G>A
 gnomAD v4
3g.9473325G>CCA351685383SETD5n.1755G>C
c.3381G>C (p.Lys1127Asn)
n.3789G>C
n.854G>C
n.4360G>C
n.4716G>C
c.3285G>C (p.Lys1095Asn)
c.*3431G>C (n.*3431G>C)
c.*3354G>C (n.*3354G>C)
c.*3659G>C (n.*3659G>C)
c.*3390G>C (n.*3390G>C)
c.2991G>C (p.Lys997Asn)
c.2287G>C
c.3342G>C (p.Lys1114Asn)
c.2321G>C
c.1276G>C
n.2626G>C
n.353G>C
n.90G>C
n.3449G>C
c.3459G>C (p.Lys1153Asn)
c.3438G>C (p.Lys1146Asn)
c.3420G>C (p.Lys1140Asn)
c.3402G>C (p.Lys1134Asn)
c.3363G>C (p.Lys1121Asn)
c.3324G>C (p.Lys1108Asn)
c.3048G>C (p.Lys1016Asn)
c.3009G>C (p.Lys1003Asn)
c.3399G>C (p.Lys1133Asn)
c.3306G>C (p.Lys1102Asn)
c.2781G>C (p.Lys927Asn)
c.3096G>C (p.Lys1032Asn)
n.7668G>C
3g.9473325G>TCA351685386SETD5n.1755G>T
c.3381G>T (p.Lys1127Asn)
n.3789G>T
n.854G>T
n.4360G>T
n.4716G>T
c.3285G>T (p.Lys1095Asn)
c.*3431G>T (n.*3431G>T)
c.*3354G>T (n.*3354G>T)
c.*3659G>T (n.*3659G>T)
c.*3390G>T (n.*3390G>T)
c.2991G>T (p.Lys997Asn)
c.2287G>T
c.3342G>T (p.Lys1114Asn)
c.2321G>T
c.1276G>T
n.2626G>T
n.353G>T
n.90G>T
n.3449G>T
c.3459G>T (p.Lys1153Asn)
c.3438G>T (p.Lys1146Asn)
c.3420G>T (p.Lys1140Asn)
c.3402G>T (p.Lys1134Asn)
c.3363G>T (p.Lys1121Asn)
c.3324G>T (p.Lys1108Asn)
c.3048G>T (p.Lys1016Asn)
c.3009G>T (p.Lys1003Asn)
c.3399G>T (p.Lys1133Asn)
c.3306G>T (p.Lys1102Asn)
c.2781G>T (p.Lys927Asn)
c.3096G>T (p.Lys1032Asn)
n.7668G>T
3g.9473326T>ACA2239655SETD5n.1756T>A
c.3382T>A (p.Ser1128Thr)
n.3790T>A
n.855T>A
n.4361T>A
n.4717T>A
c.3286T>A (p.Ser1096Thr)
c.*3432T>A (n.*3432T>A)
c.*3355T>A (n.*3355T>A)
c.*3660T>A (n.*3660T>A)
c.*3391T>A (n.*3391T>A)
c.2992T>A (p.Ser998Thr)
c.2288T>A
c.3343T>A (p.Ser1115Thr)
c.2322T>A
c.1277T>A
n.2627T>A
n.354T>A
n.91T>A
n.3450T>A
c.3460T>A (p.Ser1154Thr)
c.3439T>A (p.Ser1147Thr)
c.3421T>A (p.Ser1141Thr)
c.3403T>A (p.Ser1135Thr)
c.3364T>A (p.Ser1122Thr)
c.3325T>A (p.Ser1109Thr)
c.3049T>A (p.Ser1017Thr)
c.3010T>A (p.Ser1004Thr)
c.3400T>A (p.Ser1134Thr)
c.3307T>A (p.Ser1103Thr)
c.2782T>A (p.Ser928Thr)
c.3097T>A (p.Ser1033Thr)
n.7669T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.9473326T>CCA351685390SETD5n.1756T>C
c.3382T>C (p.Ser1128Pro)
n.3790T>C
n.855T>C
n.4361T>C
n.4717T>C
c.3286T>C (p.Ser1096Pro)
c.*3432T>C (n.*3432T>C)
c.*3355T>C (n.*3355T>C)
c.*3660T>C (n.*3660T>C)
c.*3391T>C (n.*3391T>C)
c.2992T>C (p.Ser998Pro)
c.2288T>C
c.3343T>C (p.Ser1115Pro)
c.2322T>C
c.1277T>C
n.2627T>C
n.354T>C
n.91T>C
n.3450T>C
c.3460T>C (p.Ser1154Pro)
c.3439T>C (p.Ser1147Pro)
c.3421T>C (p.Ser1141Pro)
c.3403T>C (p.Ser1135Pro)
c.3364T>C (p.Ser1122Pro)
c.3325T>C (p.Ser1109Pro)
c.3049T>C (p.Ser1017Pro)
c.3010T>C (p.Ser1004Pro)
c.3400T>C (p.Ser1134Pro)
c.3307T>C (p.Ser1103Pro)
c.2782T>C (p.Ser928Pro)
c.3097T>C (p.Ser1033Pro)
n.7669T>C
 dbSNP gnomAD v3 gnomAD v4
3g.9473326T>GCA351685394SETD5n.1756T>G
c.3382T>G (p.Ser1128Ala)
n.3790T>G
n.855T>G
n.4361T>G
n.4717T>G
c.3286T>G (p.Ser1096Ala)
c.*3432T>G (n.*3432T>G)
c.*3355T>G (n.*3355T>G)
c.*3660T>G (n.*3660T>G)
c.*3391T>G (n.*3391T>G)
c.2992T>G (p.Ser998Ala)
c.2288T>G
c.3343T>G (p.Ser1115Ala)
c.2322T>G
c.1277T>G
n.2627T>G
n.354T>G
n.91T>G
n.3450T>G
c.3460T>G (p.Ser1154Ala)
c.3439T>G (p.Ser1147Ala)
c.3421T>G (p.Ser1141Ala)
c.3403T>G (p.Ser1135Ala)
c.3364T>G (p.Ser1122Ala)
c.3325T>G (p.Ser1109Ala)
c.3049T>G (p.Ser1017Ala)
c.3010T>G (p.Ser1004Ala)
c.3400T>G (p.Ser1134Ala)
c.3307T>G (p.Ser1103Ala)
c.2782T>G (p.Ser928Ala)
c.3097T>G (p.Ser1033Ala)
n.7669T>G
3g.9473326T=CA1344740142SETD5n.1756T=
c.3382T= (p.Ser1128=)
n.3790T=
n.855T=
n.4361T=
n.4717T=
c.3286T= (p.Ser1096=)
c.*3432T= (n.*3432T=)
c.*3355T= (n.*3355T=)
c.*3660T= (n.*3660T=)
c.*3391T= (n.*3391T=)
c.2992T= (p.Ser998=)
c.2288T=
c.3343T= (p.Ser1115=)
c.2322T=
c.1277T=
n.2627T=
n.354T=
n.91T=
n.3450T=
c.3460T= (p.Ser1154=)
c.3439T= (p.Ser1147=)
c.3421T= (p.Ser1141=)
c.3403T= (p.Ser1135=)
c.3364T= (p.Ser1122=)
c.3325T= (p.Ser1109=)
c.3049T= (p.Ser1017=)
c.3010T= (p.Ser1004=)
c.3400T= (p.Ser1134=)
c.3307T= (p.Ser1103=)
c.2782T= (p.Ser928=)
c.3097T= (p.Ser1033=)
n.7669T=
3g.9473327C>ACA351685409SETD5n.1757C>A
c.3383C>A (p.Ser1128Tyr)
n.3791C>A
n.856C>A
n.4362C>A
n.4718C>A
c.3287C>A (p.Ser1096Tyr)
c.*3433C>A (n.*3433C>A)
c.*3356C>A (n.*3356C>A)
c.*3661C>A (n.*3661C>A)
c.*3392C>A (n.*3392C>A)
c.2993C>A (p.Ser998Tyr)
c.2289C>A
c.3344C>A (p.Ser1115Tyr)
c.2323C>A
c.1278C>A
n.2628C>A
n.355C>A
n.92C>A
n.3451C>A
c.3461C>A (p.Ser1154Tyr)
c.3440C>A (p.Ser1147Tyr)
c.3422C>A (p.Ser1141Tyr)
c.3404C>A (p.Ser1135Tyr)
c.3365C>A (p.Ser1122Tyr)
c.3326C>A (p.Ser1109Tyr)
c.3050C>A (p.Ser1017Tyr)
c.3011C>A (p.Ser1004Tyr)
c.3401C>A (p.Ser1134Tyr)
c.3308C>A (p.Ser1103Tyr)
c.2783C>A (p.Ser928Tyr)
c.3098C>A (p.Ser1033Tyr)
n.7670C>A
3g.9473327C>GCA351685403SETD5n.1757C>G
c.3383C>G (p.Ser1128Cys)
n.3791C>G
n.856C>G
n.4362C>G
n.4718C>G
c.3287C>G (p.Ser1096Cys)
c.*3433C>G (n.*3433C>G)
c.*3356C>G (n.*3356C>G)
c.*3661C>G (n.*3661C>G)
c.*3392C>G (n.*3392C>G)
c.2993C>G (p.Ser998Cys)
c.2289C>G
c.3344C>G (p.Ser1115Cys)
c.2323C>G
c.1278C>G
n.2628C>G
n.355C>G
n.92C>G
n.3451C>G
c.3461C>G (p.Ser1154Cys)
c.3440C>G (p.Ser1147Cys)
c.3422C>G (p.Ser1141Cys)
c.3404C>G (p.Ser1135Cys)
c.3365C>G (p.Ser1122Cys)
c.3326C>G (p.Ser1109Cys)
c.3050C>G (p.Ser1017Cys)
c.3011C>G (p.Ser1004Cys)
c.3401C>G (p.Ser1134Cys)
c.3308C>G (p.Ser1103Cys)
c.2783C>G (p.Ser928Cys)
c.3098C>G (p.Ser1033Cys)
n.7670C>G
 gnomAD v4
3g.9473327C>TCA351685398SETD5n.1757C>T
c.3383C>T (p.Ser1128Phe)
n.3791C>T
n.856C>T
n.4362C>T
n.4718C>T
c.3287C>T (p.Ser1096Phe)
c.*3433C>T (n.*3433C>T)
c.*3356C>T (n.*3356C>T)
c.*3661C>T (n.*3661C>T)
c.*3392C>T (n.*3392C>T)
c.2993C>T (p.Ser998Phe)
c.2289C>T
c.3344C>T (p.Ser1115Phe)
c.2323C>T
c.1278C>T
n.2628C>T
n.355C>T
n.92C>T
n.3451C>T
c.3461C>T (p.Ser1154Phe)
c.3440C>T (p.Ser1147Phe)
c.3422C>T (p.Ser1141Phe)
c.3404C>T (p.Ser1135Phe)
c.3365C>T (p.Ser1122Phe)
c.3326C>T (p.Ser1109Phe)
c.3050C>T (p.Ser1017Phe)
c.3011C>T (p.Ser1004Phe)
c.3401C>T (p.Ser1134Phe)
c.3308C>T (p.Ser1103Phe)
c.2783C>T (p.Ser928Phe)
c.3098C>T (p.Ser1033Phe)
n.7670C>T
3g.9473328T>ACA432365757SETD5n.1758T>A
c.3384T>A (p.Ser1128=)
n.3792T>A
n.857T>A
n.4363T>A
n.4719T>A
c.3288T>A (p.Ser1096=)
c.*3434T>A (n.*3434T>A)
c.*3357T>A (n.*3357T>A)
c.*3662T>A (n.*3662T>A)
c.*3393T>A (n.*3393T>A)
c.2994T>A (p.Ser998=)
c.2290T>A
c.3345T>A (p.Ser1115=)
c.2324T>A
c.1279T>A
n.2629T>A
n.356T>A
n.93T>A
n.3452T>A
c.3462T>A (p.Ser1154=)
c.3441T>A (p.Ser1147=)
c.3423T>A (p.Ser1141=)
c.3405T>A (p.Ser1135=)
c.3366T>A (p.Ser1122=)
c.3327T>A (p.Ser1109=)
c.3051T>A (p.Ser1017=)
c.3012T>A (p.Ser1004=)
c.3402T>A (p.Ser1134=)
c.3309T>A (p.Ser1103=)
c.2784T>A (p.Ser928=)
c.3099T>A (p.Ser1033=)
n.7671T>A
3g.9473328T>CCA432365758SETD5n.1758T>C
c.3384T>C (p.Ser1128=)
n.3792T>C
n.857T>C
n.4363T>C
n.4719T>C
c.3288T>C (p.Ser1096=)
c.*3434T>C (n.*3434T>C)
c.*3357T>C (n.*3357T>C)
c.*3662T>C (n.*3662T>C)
c.*3393T>C (n.*3393T>C)
c.2994T>C (p.Ser998=)
c.2290T>C
c.3345T>C (p.Ser1115=)
c.2324T>C
c.1279T>C
n.2629T>C
n.356T>C
n.93T>C
n.3452T>C
c.3462T>C (p.Ser1154=)
c.3441T>C (p.Ser1147=)
c.3423T>C (p.Ser1141=)
c.3405T>C (p.Ser1135=)
c.3366T>C (p.Ser1122=)
c.3327T>C (p.Ser1109=)
c.3051T>C (p.Ser1017=)
c.3012T>C (p.Ser1004=)
c.3402T>C (p.Ser1134=)
c.3309T>C (p.Ser1103=)
c.2784T>C (p.Ser928=)
c.3099T>C (p.Ser1033=)
n.7671T>C
3g.9473328T>GCA432365759SETD5n.1758T>G
c.3384T>G (p.Ser1128=)
n.3792T>G
n.857T>G
n.4363T>G
n.4719T>G
c.3288T>G (p.Ser1096=)
c.*3434T>G (n.*3434T>G)
c.*3357T>G (n.*3357T>G)
c.*3662T>G (n.*3662T>G)
c.*3393T>G (n.*3393T>G)
c.2994T>G (p.Ser998=)
c.2290T>G
c.3345T>G (p.Ser1115=)
c.2324T>G
c.1279T>G
n.2629T>G
n.356T>G
n.93T>G
n.3452T>G
c.3462T>G (p.Ser1154=)
c.3441T>G (p.Ser1147=)
c.3423T>G (p.Ser1141=)
c.3405T>G (p.Ser1135=)
c.3366T>G (p.Ser1122=)
c.3327T>G (p.Ser1109=)
c.3051T>G (p.Ser1017=)
c.3012T>G (p.Ser1004=)
c.3402T>G (p.Ser1134=)
c.3309T>G (p.Ser1103=)
c.2784T>G (p.Ser928=)
c.3099T>G (p.Ser1033=)
n.7671T>G
3g.9473329G>ACA351685412SETD5n.1759G>A
c.3385G>A (p.Ala1129Thr)
n.3793G>A
n.858G>A
n.4364G>A
n.4720G>A
c.3289G>A (p.Ala1097Thr)
c.*3435G>A (n.*3435G>A)
c.*3358G>A (n.*3358G>A)
c.*3663G>A (n.*3663G>A)
c.*3394G>A (n.*3394G>A)
c.2995G>A (p.Ala999Thr)
c.2291G>A
c.3346G>A (p.Ala1116Thr)
c.2325G>A
c.1280G>A
n.2630G>A
n.357G>A
n.94G>A
n.3453G>A
c.3463G>A (p.Ala1155Thr)
c.3442G>A (p.Ala1148Thr)
c.3424G>A (p.Ala1142Thr)
c.3406G>A (p.Ala1136Thr)
c.3367G>A (p.Ala1123Thr)
c.3328G>A (p.Ala1110Thr)
c.3052G>A (p.Ala1018Thr)
c.3013G>A (p.Ala1005Thr)
c.3403G>A (p.Ala1135Thr)
c.3310G>A (p.Ala1104Thr)
c.2785G>A (p.Ala929Thr)
c.3100G>A (p.Ala1034Thr)
n.7672G>A
 gnomAD v4
3g.9473329G>CCA351685416SETD5n.1759G>C
c.3385G>C (p.Ala1129Pro)
n.3793G>C
n.858G>C
n.4364G>C
n.4720G>C
c.3289G>C (p.Ala1097Pro)
c.*3435G>C (n.*3435G>C)
c.*3358G>C (n.*3358G>C)
c.*3663G>C (n.*3663G>C)
c.*3394G>C (n.*3394G>C)
c.2995G>C (p.Ala999Pro)
c.2291G>C
c.3346G>C (p.Ala1116Pro)
c.2325G>C
c.1280G>C
n.2630G>C
n.357G>C
n.94G>C
n.3453G>C
c.3463G>C (p.Ala1155Pro)
c.3442G>C (p.Ala1148Pro)
c.3424G>C (p.Ala1142Pro)
c.3406G>C (p.Ala1136Pro)
c.3367G>C (p.Ala1123Pro)
c.3328G>C (p.Ala1110Pro)
c.3052G>C (p.Ala1018Pro)
c.3013G>C (p.Ala1005Pro)
c.3403G>C (p.Ala1135Pro)
c.3310G>C (p.Ala1104Pro)
c.2785G>C (p.Ala929Pro)
c.3100G>C (p.Ala1034Pro)
n.7672G>C
3g.9473329G>TCA351685419SETD5n.1759G>T
c.3385G>T (p.Ala1129Ser)
n.3793G>T
n.858G>T
n.4364G>T
n.4720G>T
c.3289G>T (p.Ala1097Ser)
c.*3435G>T (n.*3435G>T)
c.*3358G>T (n.*3358G>T)
c.*3663G>T (n.*3663G>T)
c.*3394G>T (n.*3394G>T)
c.2995G>T (p.Ala999Ser)
c.2291G>T
c.3346G>T (p.Ala1116Ser)
c.2325G>T
c.1280G>T
n.2630G>T
n.357G>T
n.94G>T
n.3453G>T
c.3463G>T (p.Ala1155Ser)
c.3442G>T (p.Ala1148Ser)
c.3424G>T (p.Ala1142Ser)
c.3406G>T (p.Ala1136Ser)
c.3367G>T (p.Ala1123Ser)
c.3328G>T (p.Ala1110Ser)
c.3052G>T (p.Ala1018Ser)
c.3013G>T (p.Ala1005Ser)
c.3403G>T (p.Ala1135Ser)
c.3310G>T (p.Ala1104Ser)
c.2785G>T (p.Ala929Ser)
c.3100G>T (p.Ala1034Ser)
n.7672G>T
 gnomAD v4
3g.9473330C>ACA351685423SETD5n.1760C>A
c.3386C>A (p.Ala1129Glu)
n.3794C>A
n.859C>A
n.4365C>A
n.4721C>A
c.3290C>A (p.Ala1097Glu)
c.*3436C>A (n.*3436C>A)
c.*3359C>A (n.*3359C>A)
c.*3664C>A (n.*3664C>A)
c.*3395C>A (n.*3395C>A)
c.2996C>A (p.Ala999Glu)
c.2292C>A
c.3347C>A (p.Ala1116Glu)
c.2326C>A
c.1281C>A
n.2631C>A
n.358C>A
n.95C>A
n.3454C>A
c.3464C>A (p.Ala1155Glu)
c.3443C>A (p.Ala1148Glu)
c.3425C>A (p.Ala1142Glu)
c.3407C>A (p.Ala1136Glu)
c.3368C>A (p.Ala1123Glu)
c.3329C>A (p.Ala1110Glu)
c.3053C>A (p.Ala1018Glu)
c.3014C>A (p.Ala1005Glu)
c.3404C>A (p.Ala1135Glu)
c.3311C>A (p.Ala1104Glu)
c.2786C>A (p.Ala929Glu)
c.3101C>A (p.Ala1034Glu)
n.7673C>A
3g.9473330C>GCA351685424SETD5n.1760C>G
c.3386C>G (p.Ala1129Gly)
n.3794C>G
n.859C>G
n.4365C>G
n.4721C>G
c.3290C>G (p.Ala1097Gly)
c.*3436C>G (n.*3436C>G)
c.*3359C>G (n.*3359C>G)
c.*3664C>G (n.*3664C>G)
c.*3395C>G (n.*3395C>G)
c.2996C>G (p.Ala999Gly)
c.2292C>G
c.3347C>G (p.Ala1116Gly)
c.2326C>G
c.1281C>G
n.2631C>G
n.358C>G
n.95C>G
n.3454C>G
c.3464C>G (p.Ala1155Gly)
c.3443C>G (p.Ala1148Gly)
c.3425C>G (p.Ala1142Gly)
c.3407C>G (p.Ala1136Gly)
c.3368C>G (p.Ala1123Gly)
c.3329C>G (p.Ala1110Gly)
c.3053C>G (p.Ala1018Gly)
c.3014C>G (p.Ala1005Gly)
c.3404C>G (p.Ala1135Gly)
c.3311C>G (p.Ala1104Gly)
c.2786C>G (p.Ala929Gly)
c.3101C>G (p.Ala1034Gly)
n.7673C>G
 gnomAD v4
3g.9473330C>TCA351685428SETD5n.1760C>T
c.3386C>T (p.Ala1129Val)
n.3794C>T
n.859C>T
n.4365C>T
n.4721C>T
c.3290C>T (p.Ala1097Val)
c.*3436C>T (n.*3436C>T)
c.*3359C>T (n.*3359C>T)
c.*3664C>T (n.*3664C>T)
c.*3395C>T (n.*3395C>T)
c.2996C>T (p.Ala999Val)
c.2292C>T
c.3347C>T (p.Ala1116Val)
c.2326C>T
c.1281C>T
n.2631C>T
n.358C>T
n.95C>T
n.3454C>T
c.3464C>T (p.Ala1155Val)
c.3443C>T (p.Ala1148Val)
c.3425C>T (p.Ala1142Val)
c.3407C>T (p.Ala1136Val)
c.3368C>T (p.Ala1123Val)
c.3329C>T (p.Ala1110Val)
c.3053C>T (p.Ala1018Val)
c.3014C>T (p.Ala1005Val)
c.3404C>T (p.Ala1135Val)
c.3311C>T (p.Ala1104Val)
c.2786C>T (p.Ala929Val)
c.3101C>T (p.Ala1034Val)
n.7673C>T
 gnomAD v4
3g.9473331A>CCA432365760SETD5n.1761A>C
c.3387A>C (p.Ala1129=)
n.3795A>C
n.860A>C
n.4366A>C
n.4722A>C
c.3291A>C (p.Ala1097=)
c.*3437A>C (n.*3437A>C)
c.*3360A>C (n.*3360A>C)
c.*3665A>C (n.*3665A>C)
c.*3396A>C (n.*3396A>C)
c.2997A>C (p.Ala999=)
c.2293A>C
c.3348A>C (p.Ala1116=)
c.2327A>C
c.1282A>C
n.2632A>C
n.359A>C
n.96A>C
n.3455A>C
c.3465A>C (p.Ala1155=)
c.3444A>C (p.Ala1148=)
c.3426A>C (p.Ala1142=)
c.3408A>C (p.Ala1136=)
c.3369A>C (p.Ala1123=)
c.3330A>C (p.Ala1110=)
c.3054A>C (p.Ala1018=)
c.3015A>C (p.Ala1005=)
c.3405A>C (p.Ala1135=)
c.3312A>C (p.Ala1104=)
c.2787A>C (p.Ala929=)
c.3102A>C (p.Ala1034=)
n.7674A>C
3g.9473331A>GCA432365761SETD5n.1761A>G
c.3387A>G (p.Ala1129=)
n.3795A>G
n.860A>G
n.4366A>G
n.4722A>G
c.3291A>G (p.Ala1097=)
c.*3437A>G (n.*3437A>G)
c.*3360A>G (n.*3360A>G)
c.*3665A>G (n.*3665A>G)
c.*3396A>G (n.*3396A>G)
c.2997A>G (p.Ala999=)
c.2293A>G
c.3348A>G (p.Ala1116=)
c.2327A>G
c.1282A>G
n.2632A>G
n.359A>G
n.96A>G
n.3455A>G
c.3465A>G (p.Ala1155=)
c.3444A>G (p.Ala1148=)
c.3426A>G (p.Ala1142=)
c.3408A>G (p.Ala1136=)
c.3369A>G (p.Ala1123=)
c.3330A>G (p.Ala1110=)
c.3054A>G (p.Ala1018=)
c.3015A>G (p.Ala1005=)
c.3405A>G (p.Ala1135=)
c.3312A>G (p.Ala1104=)
c.2787A>G (p.Ala929=)
c.3102A>G (p.Ala1034=)
n.7674A>G
 gnomAD v4
3g.9473331A>TCA432365762SETD5n.1761A>T
c.3387A>T (p.Ala1129=)
n.3795A>T
n.860A>T
n.4366A>T
n.4722A>T
c.3291A>T (p.Ala1097=)
c.*3437A>T (n.*3437A>T)
c.*3360A>T (n.*3360A>T)
c.*3665A>T (n.*3665A>T)
c.*3396A>T (n.*3396A>T)
c.2997A>T (p.Ala999=)
c.2293A>T
c.3348A>T (p.Ala1116=)
c.2327A>T
c.1282A>T
n.2632A>T
n.359A>T
n.96A>T
n.3455A>T
c.3465A>T (p.Ala1155=)
c.3444A>T (p.Ala1148=)
c.3426A>T (p.Ala1142=)
c.3408A>T (p.Ala1136=)
c.3369A>T (p.Ala1123=)
c.3330A>T (p.Ala1110=)
c.3054A>T (p.Ala1018=)
c.3015A>T (p.Ala1005=)
c.3405A>T (p.Ala1135=)
c.3312A>T (p.Ala1104=)
c.2787A>T (p.Ala929=)
c.3102A>T (p.Ala1034=)
n.7674A>T
3g.9473332G>ACA351685433SETD5n.1762G>A
c.3388G>A (p.Gly1130Arg)
n.3796G>A
n.861G>A
n.4367G>A
n.4723G>A
c.3292G>A (p.Gly1098Arg)
c.*3438G>A (n.*3438G>A)
c.*3361G>A (n.*3361G>A)
c.*3666G>A (n.*3666G>A)
c.*3397G>A (n.*3397G>A)
c.2998G>A (p.Gly1000Arg)
c.2294G>A
c.3349G>A (p.Gly1117Arg)
c.2328G>A
c.1283G>A
n.2633G>A
n.360G>A
n.97G>A
n.3456G>A
c.3466G>A (p.Gly1156Arg)
c.3445G>A (p.Gly1149Arg)
c.3427G>A (p.Gly1143Arg)
c.3409G>A (p.Gly1137Arg)
c.3370G>A (p.Gly1124Arg)
c.3331G>A (p.Gly1111Arg)
c.3055G>A (p.Gly1019Arg)
c.3016G>A (p.Gly1006Arg)
c.3406G>A (p.Gly1136Arg)
c.3313G>A (p.Gly1105Arg)
c.2788G>A (p.Gly930Arg)
c.3103G>A (p.Gly1035Arg)
n.7675G>A
 dbSNP gnomAD v2 gnomAD v4
3g.9473332G>CCA351685436SETD5n.1762G>C
c.3388G>C (p.Gly1130Arg)
n.3796G>C
n.861G>C
n.4367G>C
n.4723G>C
c.3292G>C (p.Gly1098Arg)
c.*3438G>C (n.*3438G>C)
c.*3361G>C (n.*3361G>C)
c.*3666G>C (n.*3666G>C)
c.*3397G>C (n.*3397G>C)
c.2998G>C (p.Gly1000Arg)
c.2294G>C
c.3349G>C (p.Gly1117Arg)
c.2328G>C
c.1283G>C
n.2633G>C
n.360G>C
n.97G>C
n.3456G>C
c.3466G>C (p.Gly1156Arg)
c.3445G>C (p.Gly1149Arg)
c.3427G>C (p.Gly1143Arg)
c.3409G>C (p.Gly1137Arg)
c.3370G>C (p.Gly1124Arg)
c.3331G>C (p.Gly1111Arg)
c.3055G>C (p.Gly1019Arg)
c.3016G>C (p.Gly1006Arg)
c.3406G>C (p.Gly1136Arg)
c.3313G>C (p.Gly1105Arg)
c.2788G>C (p.Gly930Arg)
c.3103G>C (p.Gly1035Arg)
n.7675G>C
3g.9473332G=CA1344740146SETD5n.1762G=
c.3388G= (p.Gly1130=)
n.3796G=
n.861G=
n.4367G=
n.4723G=
c.3292G= (p.Gly1098=)
c.*3438G= (n.*3438G=)
c.*3361G= (n.*3361G=)
c.*3666G= (n.*3666G=)
c.*3397G= (n.*3397G=)
c.2998G= (p.Gly1000=)
c.2294G=
c.3349G= (p.Gly1117=)
c.2328G=
c.1283G=
n.2633G=
n.360G=
n.97G=
n.3456G=
c.3466G= (p.Gly1156=)
c.3445G= (p.Gly1149=)
c.3427G= (p.Gly1143=)
c.3409G= (p.Gly1137=)
c.3370G= (p.Gly1124=)
c.3331G= (p.Gly1111=)
c.3055G= (p.Gly1019=)
c.3016G= (p.Gly1006=)
c.3406G= (p.Gly1136=)
c.3313G= (p.Gly1105=)
c.2788G= (p.Gly930=)
c.3103G= (p.Gly1035=)
n.7675G=
3g.9473332G>TCA351685440SETD5n.1762G>T
c.3388G>T (p.Gly1130Ter)
n.3796G>T
n.861G>T
n.4367G>T
n.4723G>T
c.3292G>T (p.Gly1098Ter)
c.*3438G>T (n.*3438G>T)
c.*3361G>T (n.*3361G>T)
c.*3666G>T (n.*3666G>T)
c.*3397G>T (n.*3397G>T)
c.2998G>T (p.Gly1000Ter)
c.2294G>T
c.3349G>T (p.Gly1117Ter)
c.2328G>T
c.1283G>T
n.2633G>T
n.360G>T
n.97G>T
n.3456G>T
c.3466G>T (p.Gly1156Ter)
c.3445G>T (p.Gly1149Ter)
c.3427G>T (p.Gly1143Ter)
c.3409G>T (p.Gly1137Ter)
c.3370G>T (p.Gly1124Ter)
c.3331G>T (p.Gly1111Ter)
c.3055G>T (p.Gly1019Ter)
c.3016G>T (p.Gly1006Ter)
c.3406G>T (p.Gly1136Ter)
c.3313G>T (p.Gly1105Ter)
c.2788G>T (p.Gly930Ter)
c.3103G>T (p.Gly1035Ter)
n.7675G>T
3g.9473333G>ACA351685444SETD5n.1763G>A
c.3389G>A (p.Gly1130Glu)
n.3797G>A
n.862G>A
n.4368G>A
n.4724G>A
c.3293G>A (p.Gly1098Glu)
c.*3439G>A (n.*3439G>A)
c.*3362G>A (n.*3362G>A)
c.*3667G>A (n.*3667G>A)
c.*3398G>A (n.*3398G>A)
c.2999G>A (p.Gly1000Glu)
c.2295G>A
c.3350G>A (p.Gly1117Glu)
c.2329G>A
c.1284G>A
n.2634G>A
n.361G>A
n.98G>A
n.3457G>A
c.3467G>A (p.Gly1156Glu)
c.3446G>A (p.Gly1149Glu)
c.3428G>A (p.Gly1143Glu)
c.3410G>A (p.Gly1137Glu)
c.3371G>A (p.Gly1124Glu)
c.3332G>A (p.Gly1111Glu)
c.3056G>A (p.Gly1019Glu)
c.3017G>A (p.Gly1006Glu)
c.3407G>A (p.Gly1136Glu)
c.3314G>A (p.Gly1105Glu)
c.2789G>A (p.Gly930Glu)
c.3104G>A (p.Gly1035Glu)
n.7676G>A
3g.9473333G>CCA351685447SETD5n.1763G>C
c.3389G>C (p.Gly1130Ala)
n.3797G>C
n.862G>C
n.4368G>C
n.4724G>C
c.3293G>C (p.Gly1098Ala)
c.*3439G>C (n.*3439G>C)
c.*3362G>C (n.*3362G>C)
c.*3667G>C (n.*3667G>C)
c.*3398G>C (n.*3398G>C)
c.2999G>C (p.Gly1000Ala)
c.2295G>C
c.3350G>C (p.Gly1117Ala)
c.2329G>C
c.1284G>C
n.2634G>C
n.361G>C
n.98G>C
n.3457G>C
c.3467G>C (p.Gly1156Ala)
c.3446G>C (p.Gly1149Ala)
c.3428G>C (p.Gly1143Ala)
c.3410G>C (p.Gly1137Ala)
c.3371G>C (p.Gly1124Ala)
c.3332G>C (p.Gly1111Ala)
c.3056G>C (p.Gly1019Ala)
c.3017G>C (p.Gly1006Ala)
c.3407G>C (p.Gly1136Ala)
c.3314G>C (p.Gly1105Ala)
c.2789G>C (p.Gly930Ala)
c.3104G>C (p.Gly1035Ala)
n.7676G>C
3g.9473333G>TCA351685451SETD5n.1763G>T
c.3389G>T (p.Gly1130Val)
n.3797G>T
n.862G>T
n.4368G>T
n.4724G>T
c.3293G>T (p.Gly1098Val)
c.*3439G>T (n.*3439G>T)
c.*3362G>T (n.*3362G>T)
c.*3667G>T (n.*3667G>T)
c.*3398G>T (n.*3398G>T)
c.2999G>T (p.Gly1000Val)
c.2295G>T
c.3350G>T (p.Gly1117Val)
c.2329G>T
c.1284G>T
n.2634G>T
n.361G>T
n.98G>T
n.3457G>T
c.3467G>T (p.Gly1156Val)
c.3446G>T (p.Gly1149Val)
c.3428G>T (p.Gly1143Val)
c.3410G>T (p.Gly1137Val)
c.3371G>T (p.Gly1124Val)
c.3332G>T (p.Gly1111Val)
c.3056G>T (p.Gly1019Val)
c.3017G>T (p.Gly1006Val)
c.3407G>T (p.Gly1136Val)
c.3314G>T (p.Gly1105Val)
c.2789G>T (p.Gly930Val)
c.3104G>T (p.Gly1035Val)
n.7676G>T
3g.9473334A>CCA432365763SETD5n.1764A>C
c.3390A>C (p.Gly1130=)
n.3798A>C
n.863A>C
n.4369A>C
n.4725A>C
c.3294A>C (p.Gly1098=)
c.*3440A>C (n.*3440A>C)
c.*3363A>C (n.*3363A>C)
c.*3668A>C (n.*3668A>C)
c.*3399A>C (n.*3399A>C)
c.3000A>C (p.Gly1000=)
c.2296A>C
c.3351A>C (p.Gly1117=)
c.2330A>C
c.1285A>C
n.2635A>C
n.362A>C
n.99A>C
n.3458A>C
c.3468A>C (p.Gly1156=)
c.3447A>C (p.Gly1149=)
c.3429A>C (p.Gly1143=)
c.3411A>C (p.Gly1137=)
c.3372A>C (p.Gly1124=)
c.3333A>C (p.Gly1111=)
c.3057A>C (p.Gly1019=)
c.3018A>C (p.Gly1006=)
c.3408A>C (p.Gly1136=)
c.3315A>C (p.Gly1105=)
c.2790A>C (p.Gly930=)
c.3105A>C (p.Gly1035=)
n.7677A>C
3g.9473334A>GCA432365764SETD5n.1764A>G
c.3390A>G (p.Gly1130=)
n.3798A>G
n.863A>G
n.4369A>G
n.4725A>G
c.3294A>G (p.Gly1098=)
c.*3440A>G (n.*3440A>G)
c.*3363A>G (n.*3363A>G)
c.*3668A>G (n.*3668A>G)
c.*3399A>G (n.*3399A>G)
c.3000A>G (p.Gly1000=)
c.2296A>G
c.3351A>G (p.Gly1117=)
c.2330A>G
c.1285A>G
n.2635A>G
n.362A>G
n.99A>G
n.3458A>G
c.3468A>G (p.Gly1156=)
c.3447A>G (p.Gly1149=)
c.3429A>G (p.Gly1143=)
c.3411A>G (p.Gly1137=)
c.3372A>G (p.Gly1124=)
c.3333A>G (p.Gly1111=)
c.3057A>G (p.Gly1019=)
c.3018A>G (p.Gly1006=)
c.3408A>G (p.Gly1136=)
c.3315A>G (p.Gly1105=)
c.2790A>G (p.Gly930=)
c.3105A>G (p.Gly1035=)
n.7677A>G
 gnomAD v4
3g.9473334A>TCA432365765SETD5n.1764A>T
c.3390A>T (p.Gly1130=)
n.3798A>T
n.863A>T
n.4369A>T
n.4725A>T
c.3294A>T (p.Gly1098=)
c.*3440A>T (n.*3440A>T)
c.*3363A>T (n.*3363A>T)
c.*3668A>T (n.*3668A>T)
c.*3399A>T (n.*3399A>T)
c.3000A>T (p.Gly1000=)
c.2296A>T
c.3351A>T (p.Gly1117=)
c.2330A>T
c.1285A>T
n.2635A>T
n.362A>T
n.99A>T
n.3458A>T
c.3468A>T (p.Gly1156=)
c.3447A>T (p.Gly1149=)
c.3429A>T (p.Gly1143=)
c.3411A>T (p.Gly1137=)
c.3372A>T (p.Gly1124=)
c.3333A>T (p.Gly1111=)
c.3057A>T (p.Gly1019=)
c.3018A>T (p.Gly1006=)
c.3408A>T (p.Gly1136=)
c.3315A>T (p.Gly1105=)
c.2790A>T (p.Gly930=)
c.3105A>T (p.Gly1035=)
n.7677A>T
3g.9473335G>ACA351685453SETD5n.1765G>A
c.3391G>A (p.Ala1131Thr)
n.3799G>A
n.864G>A
n.4370G>A
n.4726G>A
c.3295G>A (p.Ala1099Thr)
c.*3441G>A (n.*3441G>A)
c.*3364G>A (n.*3364G>A)
c.*3669G>A (n.*3669G>A)
c.*3400G>A (n.*3400G>A)
c.3001G>A (p.Ala1001Thr)
c.2297G>A
c.3352G>A (p.Ala1118Thr)
c.2331G>A
c.1286G>A
n.2636G>A
n.363G>A
n.100G>A
n.3459G>A
c.3469G>A (p.Ala1157Thr)
c.3448G>A (p.Ala1150Thr)
c.3430G>A (p.Ala1144Thr)
c.3412G>A (p.Ala1138Thr)
c.3373G>A (p.Ala1125Thr)
c.3334G>A (p.Ala1112Thr)
c.3058G>A (p.Ala1020Thr)
c.3019G>A (p.Ala1007Thr)
c.3409G>A (p.Ala1137Thr)
c.3316G>A (p.Ala1106Thr)
c.2791G>A (p.Ala931Thr)
c.3106G>A (p.Ala1036Thr)
n.7678G>A
3g.9473335G>CCA351685456SETD5n.1765G>C
c.3391G>C (p.Ala1131Pro)
n.3799G>C
n.864G>C
n.4370G>C
n.4726G>C
c.3295G>C (p.Ala1099Pro)
c.*3441G>C (n.*3441G>C)
c.*3364G>C (n.*3364G>C)
c.*3669G>C (n.*3669G>C)
c.*3400G>C (n.*3400G>C)
c.3001G>C (p.Ala1001Pro)
c.2297G>C
c.3352G>C (p.Ala1118Pro)
c.2331G>C
c.1286G>C
n.2636G>C
n.363G>C
n.100G>C
n.3459G>C
c.3469G>C (p.Ala1157Pro)
c.3448G>C (p.Ala1150Pro)
c.3430G>C (p.Ala1144Pro)
c.3412G>C (p.Ala1138Pro)
c.3373G>C (p.Ala1125Pro)
c.3334G>C (p.Ala1112Pro)
c.3058G>C (p.Ala1020Pro)
c.3019G>C (p.Ala1007Pro)
c.3409G>C (p.Ala1137Pro)
c.3316G>C (p.Ala1106Pro)
c.2791G>C (p.Ala931Pro)
c.3106G>C (p.Ala1036Pro)
n.7678G>C
3g.9473335G>TCA351685452SETD5n.1765G>T
c.3391G>T (p.Ala1131Ser)
n.3799G>T
n.864G>T
n.4370G>T
n.4726G>T
c.3295G>T (p.Ala1099Ser)
c.*3441G>T (n.*3441G>T)
c.*3364G>T (n.*3364G>T)
c.*3669G>T (n.*3669G>T)
c.*3400G>T (n.*3400G>T)
c.3001G>T (p.Ala1001Ser)
c.2297G>T
c.3352G>T (p.Ala1118Ser)
c.2331G>T
c.1286G>T
n.2636G>T
n.363G>T
n.100G>T
n.3459G>T
c.3469G>T (p.Ala1157Ser)
c.3448G>T (p.Ala1150Ser)
c.3430G>T (p.Ala1144Ser)
c.3412G>T (p.Ala1138Ser)
c.3373G>T (p.Ala1125Ser)
c.3334G>T (p.Ala1112Ser)
c.3058G>T (p.Ala1020Ser)
c.3019G>T (p.Ala1007Ser)
c.3409G>T (p.Ala1137Ser)
c.3316G>T (p.Ala1106Ser)
c.2791G>T (p.Ala931Ser)
c.3106G>T (p.Ala1036Ser)
n.7678G>T
3g.9473336C>ACA351685464SETD5n.1766C>A
c.3392C>A (p.Ala1131Asp)
n.3800C>A
n.865C>A
n.4371C>A
n.4727C>A
c.3296C>A (p.Ala1099Asp)
c.*3442C>A (n.*3442C>A)
c.*3365C>A (n.*3365C>A)
c.*3670C>A (n.*3670C>A)
c.*3401C>A (n.*3401C>A)
c.3002C>A (p.Ala1001Asp)
c.2298C>A
c.3353C>A (p.Ala1118Asp)
c.2332C>A
c.1287C>A
n.2637C>A
n.364C>A
n.101C>A
n.3460C>A
c.3470C>A (p.Ala1157Asp)
c.3449C>A (p.Ala1150Asp)
c.3431C>A (p.Ala1144Asp)
c.3413C>A (p.Ala1138Asp)
c.3374C>A (p.Ala1125Asp)
c.3335C>A (p.Ala1112Asp)
c.3059C>A (p.Ala1020Asp)
c.3020C>A (p.Ala1007Asp)
c.3410C>A (p.Ala1137Asp)
c.3317C>A (p.Ala1106Asp)
c.2792C>A (p.Ala931Asp)
c.3107C>A (p.Ala1036Asp)
n.7679C>A
3g.9473336C>GCA351685468SETD5n.1766C>G
c.3392C>G (p.Ala1131Gly)
n.3800C>G
n.865C>G
n.4371C>G
n.4727C>G
c.3296C>G (p.Ala1099Gly)
c.*3442C>G (n.*3442C>G)
c.*3365C>G (n.*3365C>G)
c.*3670C>G (n.*3670C>G)
c.*3401C>G (n.*3401C>G)
c.3002C>G (p.Ala1001Gly)
c.2298C>G
c.3353C>G (p.Ala1118Gly)
c.2332C>G
c.1287C>G
n.2637C>G
n.364C>G
n.101C>G
n.3460C>G
c.3470C>G (p.Ala1157Gly)
c.3449C>G (p.Ala1150Gly)
c.3431C>G (p.Ala1144Gly)
c.3413C>G (p.Ala1138Gly)
c.3374C>G (p.Ala1125Gly)
c.3335C>G (p.Ala1112Gly)
c.3059C>G (p.Ala1020Gly)
c.3020C>G (p.Ala1007Gly)
c.3410C>G (p.Ala1137Gly)
c.3317C>G (p.Ala1106Gly)
c.2792C>G (p.Ala931Gly)
c.3107C>G (p.Ala1036Gly)
n.7679C>G
3g.9473336C>TCA351685470SETD5n.1766C>T
c.3392C>T (p.Ala1131Val)
n.3800C>T
n.865C>T
n.4371C>T
n.4727C>T
c.3296C>T (p.Ala1099Val)
c.*3442C>T (n.*3442C>T)
c.*3365C>T (n.*3365C>T)
c.*3670C>T (n.*3670C>T)
c.*3401C>T (n.*3401C>T)
c.3002C>T (p.Ala1001Val)
c.2298C>T
c.3353C>T (p.Ala1118Val)
c.2332C>T
c.1287C>T
n.2637C>T
n.364C>T
n.101C>T
n.3460C>T
c.3470C>T (p.Ala1157Val)
c.3449C>T (p.Ala1150Val)
c.3431C>T (p.Ala1144Val)
c.3413C>T (p.Ala1138Val)
c.3374C>T (p.Ala1125Val)
c.3335C>T (p.Ala1112Val)
c.3059C>T (p.Ala1020Val)
c.3020C>T (p.Ala1007Val)
c.3410C>T (p.Ala1137Val)
c.3317C>T (p.Ala1106Val)
c.2792C>T (p.Ala931Val)
c.3107C>T (p.Ala1036Val)
n.7679C>T
 gnomAD v4
3g.9473337T>ACA432365766SETD5n.1767T>A
c.3393T>A (p.Ala1131=)
n.3801T>A
n.866T>A
n.4372T>A
n.4728T>A
c.3297T>A (p.Ala1099=)
c.*3443T>A (n.*3443T>A)
c.*3366T>A (n.*3366T>A)
c.*3671T>A (n.*3671T>A)
c.*3402T>A (n.*3402T>A)
c.3003T>A (p.Ala1001=)
c.2299T>A
c.3354T>A (p.Ala1118=)
c.2333T>A
c.1288T>A
n.2638T>A
n.365T>A
n.102T>A
n.3461T>A
c.3471T>A (p.Ala1157=)
c.3450T>A (p.Ala1150=)
c.3432T>A (p.Ala1144=)
c.3414T>A (p.Ala1138=)
c.3375T>A (p.Ala1125=)
c.3336T>A (p.Ala1112=)
c.3060T>A (p.Ala1020=)
c.3021T>A (p.Ala1007=)
c.3411T>A (p.Ala1137=)
c.3318T>A (p.Ala1106=)
c.2793T>A (p.Ala931=)
c.3108T>A (p.Ala1036=)
n.7680T>A
3g.9473337T>CCA432365767SETD5n.1767T>C
c.3393T>C (p.Ala1131=)
n.3801T>C
n.866T>C
n.4372T>C
n.4728T>C
c.3297T>C (p.Ala1099=)
c.*3443T>C (n.*3443T>C)
c.*3366T>C (n.*3366T>C)
c.*3671T>C (n.*3671T>C)
c.*3402T>C (n.*3402T>C)
c.3003T>C (p.Ala1001=)
c.2299T>C
c.3354T>C (p.Ala1118=)
c.2333T>C
c.1288T>C
n.2638T>C
n.365T>C
n.102T>C
n.3461T>C
c.3471T>C (p.Ala1157=)
c.3450T>C (p.Ala1150=)
c.3432T>C (p.Ala1144=)
c.3414T>C (p.Ala1138=)
c.3375T>C (p.Ala1125=)
c.3336T>C (p.Ala1112=)
c.3060T>C (p.Ala1020=)
c.3021T>C (p.Ala1007=)
c.3411T>C (p.Ala1137=)
c.3318T>C (p.Ala1106=)
c.2793T>C (p.Ala931=)
c.3108T>C (p.Ala1036=)
n.7680T>C
3g.9473337T>GCA432365768SETD5n.1767T>G
c.3393T>G (p.Ala1131=)
n.3801T>G
n.866T>G
n.4372T>G
n.4728T>G
c.3297T>G (p.Ala1099=)
c.*3443T>G (n.*3443T>G)
c.*3366T>G (n.*3366T>G)
c.*3671T>G (n.*3671T>G)
c.*3402T>G (n.*3402T>G)
c.3003T>G (p.Ala1001=)
c.2299T>G
c.3354T>G (p.Ala1118=)
c.2333T>G
c.1288T>G
n.2638T>G
n.365T>G
n.102T>G
n.3461T>G
c.3471T>G (p.Ala1157=)
c.3450T>G (p.Ala1150=)
c.3432T>G (p.Ala1144=)
c.3414T>G (p.Ala1138=)
c.3375T>G (p.Ala1125=)
c.3336T>G (p.Ala1112=)
c.3060T>G (p.Ala1020=)
c.3021T>G (p.Ala1007=)
c.3411T>G (p.Ala1137=)
c.3318T>G (p.Ala1106=)
c.2793T>G (p.Ala931=)
c.3108T>G (p.Ala1036=)
n.7680T>G
3g.9473338G>ACA351685475SETD5n.1768G>A
c.3394G>A (p.Gly1132Arg)
n.3802G>A
n.867G>A
n.4373G>A
n.4729G>A
c.3298G>A (p.Gly1100Arg)
c.*3444G>A (n.*3444G>A)
c.*3367G>A (n.*3367G>A)
c.*3672G>A (n.*3672G>A)
c.*3403G>A (n.*3403G>A)
c.3004G>A (p.Gly1002Arg)
c.2300G>A
c.3355G>A (p.Gly1119Arg)
c.2334G>A
c.1289G>A
n.2639G>A
n.366G>A
n.103G>A
n.3462G>A
c.3472G>A (p.Gly1158Arg)
c.3451G>A (p.Gly1151Arg)
c.3433G>A (p.Gly1145Arg)
c.3415G>A (p.Gly1139Arg)
c.3376G>A (p.Gly1126Arg)
c.3337G>A (p.Gly1113Arg)
c.3061G>A (p.Gly1021Arg)
c.3022G>A (p.Gly1008Arg)
c.3412G>A (p.Gly1138Arg)
c.3319G>A (p.Gly1107Arg)
c.2794G>A (p.Gly932Arg)
c.3109G>A (p.Gly1037Arg)
n.7681G>A
 ClinVar
3g.9473338G>CCA351685477SETD5n.1768G>C
c.3394G>C (p.Gly1132Arg)
n.3802G>C
n.867G>C
n.4373G>C
n.4729G>C
c.3298G>C (p.Gly1100Arg)
c.*3444G>C (n.*3444G>C)
c.*3367G>C (n.*3367G>C)
c.*3672G>C (n.*3672G>C)
c.*3403G>C (n.*3403G>C)
c.3004G>C (p.Gly1002Arg)
c.2300G>C
c.3355G>C (p.Gly1119Arg)
c.2334G>C
c.1289G>C
n.2639G>C
n.366G>C
n.103G>C
n.3462G>C
c.3472G>C (p.Gly1158Arg)
c.3451G>C (p.Gly1151Arg)
c.3433G>C (p.Gly1145Arg)
c.3415G>C (p.Gly1139Arg)
c.3376G>C (p.Gly1126Arg)
c.3337G>C (p.Gly1113Arg)
c.3061G>C (p.Gly1021Arg)
c.3022G>C (p.Gly1008Arg)
c.3412G>C (p.Gly1138Arg)
c.3319G>C (p.Gly1107Arg)
c.2794G>C (p.Gly932Arg)
c.3109G>C (p.Gly1037Arg)
n.7681G>C
3g.9473338G>TCA351685479SETD5n.1768G>T
c.3394G>T (p.Gly1132Trp)
n.3802G>T
n.867G>T
n.4373G>T
n.4729G>T
c.3298G>T (p.Gly1100Trp)
c.*3444G>T (n.*3444G>T)
c.*3367G>T (n.*3367G>T)
c.*3672G>T (n.*3672G>T)
c.*3403G>T (n.*3403G>T)
c.3004G>T (p.Gly1002Trp)
c.2300G>T
c.3355G>T (p.Gly1119Trp)
c.2334G>T
c.1289G>T
n.2639G>T
n.366G>T
n.103G>T
n.3462G>T
c.3472G>T (p.Gly1158Trp)
c.3451G>T (p.Gly1151Trp)
c.3433G>T (p.Gly1145Trp)
c.3415G>T (p.Gly1139Trp)
c.3376G>T (p.Gly1126Trp)
c.3337G>T (p.Gly1113Trp)
c.3061G>T (p.Gly1021Trp)
c.3022G>T (p.Gly1008Trp)
c.3412G>T (p.Gly1138Trp)
c.3319G>T (p.Gly1107Trp)
c.2794G>T (p.Gly932Trp)
c.3109G>T (p.Gly1037Trp)
n.7681G>T
3g.9473339G>ACA351685484SETD5n.1769G>A
c.3395G>A (p.Gly1132Glu)
n.3803G>A
n.868G>A
n.4374G>A
n.4730G>A
c.3299G>A (p.Gly1100Glu)
c.*3445G>A (n.*3445G>A)
c.*3368G>A (n.*3368G>A)
c.*3673G>A (n.*3673G>A)
c.*3404G>A (n.*3404G>A)
c.3005G>A (p.Gly1002Glu)
c.2301G>A
c.3356G>A (p.Gly1119Glu)
c.2335G>A
c.1290G>A
n.2640G>A
n.367G>A
n.104G>A
n.3463G>A
c.3473G>A (p.Gly1158Glu)
c.3452G>A (p.Gly1151Glu)
c.3434G>A (p.Gly1145Glu)
c.3416G>A (p.Gly1139Glu)
c.3377G>A (p.Gly1126Glu)
c.3338G>A (p.Gly1113Glu)
c.3062G>A (p.Gly1021Glu)
c.3023G>A (p.Gly1008Glu)
c.3413G>A (p.Gly1138Glu)
c.3320G>A (p.Gly1107Glu)
c.2795G>A (p.Gly932Glu)
c.3110G>A (p.Gly1037Glu)
n.7682G>A
3g.9473339G>CCA351685487SETD5n.1769G>C
c.3395G>C (p.Gly1132Ala)
n.3803G>C
n.868G>C
n.4374G>C
n.4730G>C
c.3299G>C (p.Gly1100Ala)
c.*3445G>C (n.*3445G>C)
c.*3368G>C (n.*3368G>C)
c.*3673G>C (n.*3673G>C)
c.*3404G>C (n.*3404G>C)
c.3005G>C (p.Gly1002Ala)
c.2301G>C
c.3356G>C (p.Gly1119Ala)
c.2335G>C
c.1290G>C
n.2640G>C
n.367G>C
n.104G>C
n.3463G>C
c.3473G>C (p.Gly1158Ala)
c.3452G>C (p.Gly1151Ala)
c.3434G>C (p.Gly1145Ala)
c.3416G>C (p.Gly1139Ala)
c.3377G>C (p.Gly1126Ala)
c.3338G>C (p.Gly1113Ala)
c.3062G>C (p.Gly1021Ala)
c.3023G>C (p.Gly1008Ala)
c.3413G>C (p.Gly1138Ala)
c.3320G>C (p.Gly1107Ala)
c.2795G>C (p.Gly932Ala)
c.3110G>C (p.Gly1037Ala)
n.7682G>C
3g.9473339G>TCA351685489SETD5n.1769G>T
c.3395G>T (p.Gly1132Val)
n.3803G>T
n.868G>T
n.4374G>T
n.4730G>T
c.3299G>T (p.Gly1100Val)
c.*3445G>T (n.*3445G>T)
c.*3368G>T (n.*3368G>T)
c.*3673G>T (n.*3673G>T)
c.*3404G>T (n.*3404G>T)
c.3005G>T (p.Gly1002Val)
c.2301G>T
c.3356G>T (p.Gly1119Val)
c.2335G>T
c.1290G>T
n.2640G>T
n.367G>T
n.104G>T
n.3463G>T
c.3473G>T (p.Gly1158Val)
c.3452G>T (p.Gly1151Val)
c.3434G>T (p.Gly1145Val)
c.3416G>T (p.Gly1139Val)
c.3377G>T (p.Gly1126Val)
c.3338G>T (p.Gly1113Val)
c.3062G>T (p.Gly1021Val)
c.3023G>T (p.Gly1008Val)
c.3413G>T (p.Gly1138Val)
c.3320G>T (p.Gly1107Val)
c.2795G>T (p.Gly932Val)
c.3110G>T (p.Gly1037Val)
n.7682G>T
 dbSNP COSMIC COSMIC
3g.9473340G>ACA432365769SETD5n.1770G>A
c.3396G>A (p.Gly1132=)
n.3804G>A
n.869G>A
n.4375G>A
n.4731G>A
c.3300G>A (p.Gly1100=)
c.*3446G>A (n.*3446G>A)
c.*3369G>A (n.*3369G>A)
c.*3674G>A (n.*3674G>A)
c.*3405G>A (n.*3405G>A)
c.3006G>A (p.Gly1002=)
c.2302G>A
c.3357G>A (p.Gly1119=)
c.2336G>A
c.1291G>A
n.2641G>A
n.368G>A
n.105G>A
n.3464G>A
c.3474G>A (p.Gly1158=)
c.3453G>A (p.Gly1151=)
c.3435G>A (p.Gly1145=)
c.3417G>A (p.Gly1139=)
c.3378G>A (p.Gly1126=)
c.3339G>A (p.Gly1113=)
c.3063G>A (p.Gly1021=)
c.3024G>A (p.Gly1008=)
c.3414G>A (p.Gly1138=)
c.3321G>A (p.Gly1107=)
c.2796G>A (p.Gly932=)
c.3111G>A (p.Gly1037=)
n.7683G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.9473340G>CCA432365770SETD5n.1770G>C
c.3396G>C (p.Gly1132=)
n.3804G>C
n.869G>C
n.4375G>C
n.4731G>C
c.3300G>C (p.Gly1100=)
c.*3446G>C (n.*3446G>C)
c.*3369G>C (n.*3369G>C)
c.*3674G>C (n.*3674G>C)
c.*3405G>C (n.*3405G>C)
c.3006G>C (p.Gly1002=)
c.2302G>C
c.3357G>C (p.Gly1119=)
c.2336G>C
c.1291G>C
n.2641G>C
n.368G>C
n.105G>C
n.3464G>C
c.3474G>C (p.Gly1158=)
c.3453G>C (p.Gly1151=)
c.3435G>C (p.Gly1145=)
c.3417G>C (p.Gly1139=)
c.3378G>C (p.Gly1126=)
c.3339G>C (p.Gly1113=)
c.3063G>C (p.Gly1021=)
c.3024G>C (p.Gly1008=)
c.3414G>C (p.Gly1138=)
c.3321G>C (p.Gly1107=)
c.2796G>C (p.Gly932=)
c.3111G>C (p.Gly1037=)
n.7683G>C
3g.9473340G=CA1344740149SETD5n.1770G=
c.3396G= (p.Gly1132=)
n.3804G=
n.869G=
n.4375G=
n.4731G=
c.3300G= (p.Gly1100=)
c.*3446G= (n.*3446G=)
c.*3369G= (n.*3369G=)
c.*3674G= (n.*3674G=)
c.*3405G= (n.*3405G=)
c.3006G= (p.Gly1002=)
c.2302G=
c.3357G= (p.Gly1119=)
c.2336G=
c.1291G=
n.2641G=
n.368G=
n.105G=
n.3464G=
c.3474G= (p.Gly1158=)
c.3453G= (p.Gly1151=)
c.3435G= (p.Gly1145=)
c.3417G= (p.Gly1139=)
c.3378G= (p.Gly1126=)
c.3339G= (p.Gly1113=)
c.3063G= (p.Gly1021=)
c.3024G= (p.Gly1008=)
c.3414G= (p.Gly1138=)
c.3321G= (p.Gly1107=)
c.2796G= (p.Gly932=)
c.3111G= (p.Gly1037=)
n.7683G=
3g.9473340G>TCA432365771SETD5n.1770G>T
c.3396G>T (p.Gly1132=)
n.3804G>T
n.869G>T
n.4375G>T
n.4731G>T
c.3300G>T (p.Gly1100=)
c.*3446G>T (n.*3446G>T)
c.*3369G>T (n.*3369G>T)
c.*3674G>T (n.*3674G>T)
c.*3405G>T (n.*3405G>T)
c.3006G>T (p.Gly1002=)
c.2302G>T
c.3357G>T (p.Gly1119=)
c.2336G>T
c.1291G>T
n.2641G>T
n.368G>T
n.105G>T
n.3464G>T
c.3474G>T (p.Gly1158=)
c.3453G>T (p.Gly1151=)
c.3435G>T (p.Gly1145=)
c.3417G>T (p.Gly1139=)
c.3378G>T (p.Gly1126=)
c.3339G>T (p.Gly1113=)
c.3063G>T (p.Gly1021=)
c.3024G>T (p.Gly1008=)
c.3414G>T (p.Gly1138=)
c.3321G>T (p.Gly1107=)
c.2796G>T (p.Gly932=)
c.3111G>T (p.Gly1037=)
n.7683G>T
3g.9473341C>ACA351685493SETD5n.1771C>A
c.3397C>A (p.Gln1133Lys)
n.3805C>A
n.870C>A
n.4376C>A
n.4732C>A
c.3301C>A (p.Gln1101Lys)
c.*3447C>A (n.*3447C>A)
c.*3370C>A (n.*3370C>A)
c.*3675C>A (n.*3675C>A)
c.*3406C>A (n.*3406C>A)
c.3007C>A (p.Gln1003Lys)
c.2303C>A
c.3358C>A (p.Gln1120Lys)
c.2337C>A
c.1292C>A
n.2642C>A
n.369C>A
n.106C>A
n.3465C>A
c.3475C>A (p.Gln1159Lys)
c.3454C>A (p.Gln1152Lys)
c.3436C>A (p.Gln1146Lys)
c.3418C>A (p.Gln1140Lys)
c.3379C>A (p.Gln1127Lys)
c.3340C>A (p.Gln1114Lys)
c.3064C>A (p.Gln1022Lys)
c.3025C>A (p.Gln1009Lys)
c.3415C>A (p.Gln1139Lys)
c.3322C>A (p.Gln1108Lys)
c.2797C>A (p.Gln933Lys)
c.3112C>A (p.Gln1038Lys)
n.7684C>A
3g.9473341C=CA1344740153SETD5n.1771C=
c.3397C= (p.Gln1133=)
n.3805C=
n.870C=
n.4376C=
n.4732C=
c.3301C= (p.Gln1101=)
c.*3447C= (n.*3447C=)
c.*3370C= (n.*3370C=)
c.*3675C= (n.*3675C=)
c.*3406C= (n.*3406C=)
c.3007C= (p.Gln1003=)
c.2303C=
c.3358C= (p.Gln1120=)
c.2337C=
c.1292C=
n.2642C=
n.369C=
n.106C=
n.3465C=
c.3475C= (p.Gln1159=)
c.3454C= (p.Gln1152=)
c.3436C= (p.Gln1146=)
c.3418C= (p.Gln1140=)
c.3379C= (p.Gln1127=)
c.3340C= (p.Gln1114=)
c.3064C= (p.Gln1022=)
c.3025C= (p.Gln1009=)
c.3415C= (p.Gln1139=)
c.3322C= (p.Gln1108=)
c.2797C= (p.Gln933=)
c.3112C= (p.Gln1038=)
n.7684C=
3g.9473341C>GCA351685495SETD5n.1771C>G
c.3397C>G (p.Gln1133Glu)
n.3805C>G
n.870C>G
n.4376C>G
n.4732C>G
c.3301C>G (p.Gln1101Glu)
c.*3447C>G (n.*3447C>G)
c.*3370C>G (n.*3370C>G)
c.*3675C>G (n.*3675C>G)
c.*3406C>G (n.*3406C>G)
c.3007C>G (p.Gln1003Glu)
c.2303C>G
c.3358C>G (p.Gln1120Glu)
c.2337C>G
c.1292C>G
n.2642C>G
n.369C>G
n.106C>G
n.3465C>G
c.3475C>G (p.Gln1159Glu)
c.3454C>G (p.Gln1152Glu)
c.3436C>G (p.Gln1146Glu)
c.3418C>G (p.Gln1140Glu)
c.3379C>G (p.Gln1127Glu)
c.3340C>G (p.Gln1114Glu)
c.3064C>G (p.Gln1022Glu)
c.3025C>G (p.Gln1009Glu)
c.3415C>G (p.Gln1139Glu)
c.3322C>G (p.Gln1108Glu)
c.2797C>G (p.Gln933Glu)
c.3112C>G (p.Gln1038Glu)
n.7684C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.9473341C>TCA351685498SETD5n.1771C>T
c.3397C>T (p.Gln1133Ter)
n.3805C>T
n.870C>T
n.4376C>T
n.4732C>T
c.3301C>T (p.Gln1101Ter)
c.*3447C>T (n.*3447C>T)
c.*3370C>T (n.*3370C>T)
c.*3675C>T (n.*3675C>T)
c.*3406C>T (n.*3406C>T)
c.3007C>T (p.Gln1003Ter)
c.2303C>T
c.3358C>T (p.Gln1120Ter)
c.2337C>T
c.1292C>T
n.2642C>T
n.369C>T
n.106C>T
n.3465C>T
c.3475C>T (p.Gln1159Ter)
c.3454C>T (p.Gln1152Ter)
c.3436C>T (p.Gln1146Ter)
c.3418C>T (p.Gln1140Ter)
c.3379C>T (p.Gln1127Ter)
c.3340C>T (p.Gln1114Ter)
c.3064C>T (p.Gln1022Ter)
c.3025C>T (p.Gln1009Ter)
c.3415C>T (p.Gln1139Ter)
c.3322C>T (p.Gln1108Ter)
c.2797C>T (p.Gln933Ter)
c.3112C>T (p.Gln1038Ter)
n.7684C>T
 ClinVar dbSNP
3g.9473342A>CCA351685505SETD5n.1772A>C
c.3398A>C (p.Gln1133Pro)
n.3806A>C
n.871A>C
n.4377A>C
n.4733A>C
c.3302A>C (p.Gln1101Pro)
c.*3448A>C (n.*3448A>C)
c.*3371A>C (n.*3371A>C)
c.*3676A>C (n.*3676A>C)
c.*3407A>C (n.*3407A>C)
c.3008A>C (p.Gln1003Pro)
c.2304A>C
c.3359A>C (p.Gln1120Pro)
c.2338A>C
c.1293A>C
n.2643A>C
n.370A>C
n.107A>C
n.3466A>C
c.3476A>C (p.Gln1159Pro)
c.3455A>C (p.Gln1152Pro)
c.3437A>C (p.Gln1146Pro)
c.3419A>C (p.Gln1140Pro)
c.3380A>C (p.Gln1127Pro)
c.3341A>C (p.Gln1114Pro)
c.3065A>C (p.Gln1022Pro)
c.3026A>C (p.Gln1009Pro)
c.3416A>C (p.Gln1139Pro)
c.3323A>C (p.Gln1108Pro)
c.2798A>C (p.Gln933Pro)
c.3113A>C (p.Gln1038Pro)
n.7685A>C
3g.9473342A>GCA351685508SETD5n.1772A>G
c.3398A>G (p.Gln1133Arg)
n.3806A>G
n.871A>G
n.4377A>G
n.4733A>G
c.3302A>G (p.Gln1101Arg)
c.*3448A>G (n.*3448A>G)
c.*3371A>G (n.*3371A>G)
c.*3676A>G (n.*3676A>G)
c.*3407A>G (n.*3407A>G)
c.3008A>G (p.Gln1003Arg)
c.2304A>G
c.3359A>G (p.Gln1120Arg)
c.2338A>G
c.1293A>G
n.2643A>G
n.370A>G
n.107A>G
n.3466A>G
c.3476A>G (p.Gln1159Arg)
c.3455A>G (p.Gln1152Arg)
c.3437A>G (p.Gln1146Arg)
c.3419A>G (p.Gln1140Arg)
c.3380A>G (p.Gln1127Arg)
c.3341A>G (p.Gln1114Arg)
c.3065A>G (p.Gln1022Arg)
c.3026A>G (p.Gln1009Arg)
c.3416A>G (p.Gln1139Arg)
c.3323A>G (p.Gln1108Arg)
c.2798A>G (p.Gln933Arg)
c.3113A>G (p.Gln1038Arg)
n.7685A>G
3g.9473342A>TCA351685501SETD5n.1772A>T
c.3398A>T (p.Gln1133Leu)
n.3806A>T
n.871A>T
n.4377A>T
n.4733A>T
c.3302A>T (p.Gln1101Leu)
c.*3448A>T (n.*3448A>T)
c.*3371A>T (n.*3371A>T)
c.*3676A>T (n.*3676A>T)
c.*3407A>T (n.*3407A>T)
c.3008A>T (p.Gln1003Leu)
c.2304A>T
c.3359A>T (p.Gln1120Leu)
c.2338A>T
c.1293A>T
n.2643A>T
n.370A>T
n.107A>T
n.3466A>T
c.3476A>T (p.Gln1159Leu)
c.3455A>T (p.Gln1152Leu)
c.3437A>T (p.Gln1146Leu)
c.3419A>T (p.Gln1140Leu)
c.3380A>T (p.Gln1127Leu)
c.3341A>T (p.Gln1114Leu)
c.3065A>T (p.Gln1022Leu)
c.3026A>T (p.Gln1009Leu)
c.3416A>T (p.Gln1139Leu)
c.3323A>T (p.Gln1108Leu)
c.2798A>T (p.Gln933Leu)
c.3113A>T (p.Gln1038Leu)
n.7685A>T
3g.9473343A=CA1344740158SETD5n.1773A=
c.3399A= (p.Gln1133=)
n.3807A=
n.872A=
n.4378A=
n.4734A=
c.3303A= (p.Gln1101=)
c.*3449A= (n.*3449A=)
c.*3372A= (n.*3372A=)
c.*3677A= (n.*3677A=)
c.*3408A= (n.*3408A=)
c.3009A= (p.Gln1003=)
c.2305A=
c.3360A= (p.Gln1120=)
c.2339A=
c.1294A=
n.2644A=
n.371A=
n.108A=
n.3467A=
c.3477A= (p.Gln1159=)
c.3456A= (p.Gln1152=)
c.3438A= (p.Gln1146=)
c.3420A= (p.Gln1140=)
c.3381A= (p.Gln1127=)
c.3342A= (p.Gln1114=)
c.3066A= (p.Gln1022=)
c.3027A= (p.Gln1009=)
c.3417A= (p.Gln1139=)
c.3324A= (p.Gln1108=)
c.2799A= (p.Gln933=)
c.3114A= (p.Gln1038=)
n.7686A=
3g.9473343A>CCA351685512SETD5n.1773A>C
c.3399A>C (p.Gln1133His)
n.3807A>C
n.872A>C
n.4378A>C
n.4734A>C
c.3303A>C (p.Gln1101His)
c.*3449A>C (n.*3449A>C)
c.*3372A>C (n.*3372A>C)
c.*3677A>C (n.*3677A>C)
c.*3408A>C (n.*3408A>C)
c.3009A>C (p.Gln1003His)
c.2305A>C
c.3360A>C (p.Gln1120His)
c.2339A>C
c.1294A>C
n.2644A>C
n.371A>C
n.108A>C
n.3467A>C
c.3477A>C (p.Gln1159His)
c.3456A>C (p.Gln1152His)
c.3438A>C (p.Gln1146His)
c.3420A>C (p.Gln1140His)
c.3381A>C (p.Gln1127His)
c.3342A>C (p.Gln1114His)
c.3066A>C (p.Gln1022His)
c.3027A>C (p.Gln1009His)
c.3417A>C (p.Gln1139His)
c.3324A>C (p.Gln1108His)
c.2799A>C (p.Gln933His)
c.3114A>C (p.Gln1038His)
n.7686A>C
 gnomAD v4
3g.9473343A>GCA432365772SETD5n.1773A>G
c.3399A>G (p.Gln1133=)
n.3807A>G
n.872A>G
n.4378A>G
n.4734A>G
c.3303A>G (p.Gln1101=)
c.*3449A>G (n.*3449A>G)
c.*3372A>G (n.*3372A>G)
c.*3677A>G (n.*3677A>G)
c.*3408A>G (n.*3408A>G)
c.3009A>G (p.Gln1003=)
c.2305A>G
c.3360A>G (p.Gln1120=)
c.2339A>G
c.1294A>G
n.2644A>G
n.371A>G
n.108A>G
n.3467A>G
c.3477A>G (p.Gln1159=)
c.3456A>G (p.Gln1152=)
c.3438A>G (p.Gln1146=)
c.3420A>G (p.Gln1140=)
c.3381A>G (p.Gln1127=)
c.3342A>G (p.Gln1114=)
c.3066A>G (p.Gln1022=)
c.3027A>G (p.Gln1009=)
c.3417A>G (p.Gln1139=)
c.3324A>G (p.Gln1108=)
c.2799A>G (p.Gln933=)
c.3114A>G (p.Gln1038=)
n.7686A>G
 dbSNP gnomAD v4
3g.9473343A>TCA351685514SETD5n.1773A>T
c.3399A>T (p.Gln1133His)
n.3807A>T
n.872A>T
n.4378A>T
n.4734A>T
c.3303A>T (p.Gln1101His)
c.*3449A>T (n.*3449A>T)
c.*3372A>T (n.*3372A>T)
c.*3677A>T (n.*3677A>T)
c.*3408A>T (n.*3408A>T)
c.3009A>T (p.Gln1003His)
c.2305A>T
c.3360A>T (p.Gln1120His)
c.2339A>T
c.1294A>T
n.2644A>T
n.371A>T
n.108A>T
n.3467A>T
c.3477A>T (p.Gln1159His)
c.3456A>T (p.Gln1152His)
c.3438A>T (p.Gln1146His)
c.3420A>T (p.Gln1140His)
c.3381A>T (p.Gln1127His)
c.3342A>T (p.Gln1114His)
c.3066A>T (p.Gln1022His)
c.3027A>T (p.Gln1009His)
c.3417A>T (p.Gln1139His)
c.3324A>T (p.Gln1108His)
c.2799A>T (p.Gln933His)
c.3114A>T (p.Gln1038His)
n.7686A>T
3g.9473344G>ACA351685518SETD5n.1774G>A
c.3400G>A (p.Gly1134Ser)
n.3808G>A
n.873G>A
n.4379G>A
n.4735G>A
c.3304G>A (p.Gly1102Ser)
c.*3450G>A (n.*3450G>A)
c.*3373G>A (n.*3373G>A)
c.*3678G>A (n.*3678G>A)
c.*3409G>A (n.*3409G>A)
c.3010G>A (p.Gly1004Ser)
c.2306G>A
c.3361G>A (p.Gly1121Ser)
c.2340G>A
c.1295G>A
n.2645G>A
n.372G>A
n.109G>A
n.3468G>A
c.3478G>A (p.Gly1160Ser)
c.3457G>A (p.Gly1153Ser)
c.3439G>A (p.Gly1147Ser)
c.3421G>A (p.Gly1141Ser)
c.3382G>A (p.Gly1128Ser)
c.3343G>A (p.Gly1115Ser)
c.3067G>A (p.Gly1023Ser)
c.3028G>A (p.Gly1010Ser)
c.3418G>A (p.Gly1140Ser)
c.3325G>A (p.Gly1109Ser)
c.2800G>A (p.Gly934Ser)
c.3115G>A (p.Gly1039Ser)
n.7687G>A
 gnomAD v4
3g.9473344G>CCA351685522SETD5n.1774G>C
c.3400G>C (p.Gly1134Arg)
n.3808G>C
n.873G>C
n.4379G>C
n.4735G>C
c.3304G>C (p.Gly1102Arg)
c.*3450G>C (n.*3450G>C)
c.*3373G>C (n.*3373G>C)
c.*3678G>C (n.*3678G>C)
c.*3409G>C (n.*3409G>C)
c.3010G>C (p.Gly1004Arg)
c.2306G>C
c.3361G>C (p.Gly1121Arg)
c.2340G>C
c.1295G>C
n.2645G>C
n.372G>C
n.109G>C
n.3468G>C
c.3478G>C (p.Gly1160Arg)
c.3457G>C (p.Gly1153Arg)
c.3439G>C (p.Gly1147Arg)
c.3421G>C (p.Gly1141Arg)
c.3382G>C (p.Gly1128Arg)
c.3343G>C (p.Gly1115Arg)
c.3067G>C (p.Gly1023Arg)
c.3028G>C (p.Gly1010Arg)
c.3418G>C (p.Gly1140Arg)
c.3325G>C (p.Gly1109Arg)
c.2800G>C (p.Gly934Arg)
c.3115G>C (p.Gly1039Arg)
n.7687G>C
3g.9473344G>TCA351685526SETD5n.1774G>T
c.3400G>T (p.Gly1134Cys)
n.3808G>T
n.873G>T
n.4379G>T
n.4735G>T
c.3304G>T (p.Gly1102Cys)
c.*3450G>T (n.*3450G>T)
c.*3373G>T (n.*3373G>T)
c.*3678G>T (n.*3678G>T)
c.*3409G>T (n.*3409G>T)
c.3010G>T (p.Gly1004Cys)
c.2306G>T
c.3361G>T (p.Gly1121Cys)
c.2340G>T
c.1295G>T
n.2645G>T
n.372G>T
n.109G>T
n.3468G>T
c.3478G>T (p.Gly1160Cys)
c.3457G>T (p.Gly1153Cys)
c.3439G>T (p.Gly1147Cys)
c.3421G>T (p.Gly1141Cys)
c.3382G>T (p.Gly1128Cys)
c.3343G>T (p.Gly1115Cys)
c.3067G>T (p.Gly1023Cys)
c.3028G>T (p.Gly1010Cys)
c.3418G>T (p.Gly1140Cys)
c.3325G>T (p.Gly1109Cys)
c.2800G>T (p.Gly934Cys)
c.3115G>T (p.Gly1039Cys)
n.7687G>T
3g.9473345G>ACA2239656SETD5n.1775G>A
c.3401G>A (p.Gly1134Asp)
n.3809G>A
n.874G>A
n.4380G>A
n.4736G>A
c.3305G>A (p.Gly1102Asp)
c.*3451G>A (n.*3451G>A)
c.*3374G>A (n.*3374G>A)
c.*3679G>A (n.*3679G>A)
c.*3410G>A (n.*3410G>A)
c.3011G>A (p.Gly1004Asp)
c.2307G>A
c.3362G>A (p.Gly1121Asp)
c.2341G>A
c.1296G>A
n.2646G>A
n.373G>A
n.110G>A
n.3469G>A
c.3479G>A (p.Gly1160Asp)
c.3458G>A (p.Gly1153Asp)
c.3440G>A (p.Gly1147Asp)
c.3422G>A (p.Gly1141Asp)
c.3383G>A (p.Gly1128Asp)
c.3344G>A (p.Gly1115Asp)
c.3068G>A (p.Gly1023Asp)
c.3029G>A (p.Gly1010Asp)
c.3419G>A (p.Gly1140Asp)
c.3326G>A (p.Gly1109Asp)
c.2801G>A (p.Gly934Asp)
c.3116G>A (p.Gly1039Asp)
n.7688G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9473345G>CCA351685533SETD5n.1775G>C
c.3401G>C (p.Gly1134Ala)
n.3809G>C
n.874G>C
n.4380G>C
n.4736G>C
c.3305G>C (p.Gly1102Ala)
c.*3451G>C (n.*3451G>C)
c.*3374G>C (n.*3374G>C)
c.*3679G>C (n.*3679G>C)
c.*3410G>C (n.*3410G>C)
c.3011G>C (p.Gly1004Ala)
c.2307G>C
c.3362G>C (p.Gly1121Ala)
c.2341G>C
c.1296G>C
n.2646G>C
n.373G>C
n.110G>C
n.3469G>C
c.3479G>C (p.Gly1160Ala)
c.3458G>C (p.Gly1153Ala)
c.3440G>C (p.Gly1147Ala)
c.3422G>C (p.Gly1141Ala)
c.3383G>C (p.Gly1128Ala)
c.3344G>C (p.Gly1115Ala)
c.3068G>C (p.Gly1023Ala)
c.3029G>C (p.Gly1010Ala)
c.3419G>C (p.Gly1140Ala)
c.3326G>C (p.Gly1109Ala)
c.2801G>C (p.Gly934Ala)
c.3116G>C (p.Gly1039Ala)
n.7688G>C
3g.9473345G=CA1344740164SETD5n.1775G=
c.3401G= (p.Gly1134=)
n.3809G=
n.874G=
n.4380G=
n.4736G=
c.3305G= (p.Gly1102=)
c.*3451G= (n.*3451G=)
c.*3374G= (n.*3374G=)
c.*3679G= (n.*3679G=)
c.*3410G= (n.*3410G=)
c.3011G= (p.Gly1004=)
c.2307G=
c.3362G= (p.Gly1121=)
c.2341G=
c.1296G=
n.2646G=
n.373G=
n.110G=
n.3469G=
c.3479G= (p.Gly1160=)
c.3458G= (p.Gly1153=)
c.3440G= (p.Gly1147=)
c.3422G= (p.Gly1141=)
c.3383G= (p.Gly1128=)
c.3344G= (p.Gly1115=)
c.3068G= (p.Gly1023=)
c.3029G= (p.Gly1010=)
c.3419G= (p.Gly1140=)
c.3326G= (p.Gly1109=)
c.2801G= (p.Gly934=)
c.3116G= (p.Gly1039=)
n.7688G=
3g.9473345G>TCA2239657SETD5n.1775G>T
c.3401G>T (p.Gly1134Val)
n.3809G>T
n.874G>T
n.4380G>T
n.4736G>T
c.3305G>T (p.Gly1102Val)
c.*3451G>T (n.*3451G>T)
c.*3374G>T (n.*3374G>T)
c.*3679G>T (n.*3679G>T)
c.*3410G>T (n.*3410G>T)
c.3011G>T (p.Gly1004Val)
c.2307G>T
c.3362G>T (p.Gly1121Val)
c.2341G>T
c.1296G>T
n.2646G>T
n.373G>T
n.110G>T
n.3469G>T
c.3479G>T (p.Gly1160Val)
c.3458G>T (p.Gly1153Val)
c.3440G>T (p.Gly1147Val)
c.3422G>T (p.Gly1141Val)
c.3383G>T (p.Gly1128Val)
c.3344G>T (p.Gly1115Val)
c.3068G>T (p.Gly1023Val)
c.3029G>T (p.Gly1010Val)
c.3419G>T (p.Gly1140Val)
c.3326G>T (p.Gly1109Val)
c.2801G>T (p.Gly934Val)
c.3116G>T (p.Gly1039Val)
n.7688G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.9473346C>ACA432365774SETD5n.1776C>A
c.3402C>A (p.Gly1134=)
n.3810C>A
n.875C>A
n.4381C>A
n.4737C>A
c.3306C>A (p.Gly1102=)
c.*3452C>A (n.*3452C>A)
c.*3375C>A (n.*3375C>A)
c.*3680C>A (n.*3680C>A)
c.*3411C>A (n.*3411C>A)
c.3012C>A (p.Gly1004=)
c.2308C>A
c.3363C>A (p.Gly1121=)
c.2342C>A
c.1297C>A
n.2647C>A
n.374C>A
n.111C>A
n.3470C>A
c.3480C>A (p.Gly1160=)
c.3459C>A (p.Gly1153=)
c.3441C>A (p.Gly1147=)
c.3423C>A (p.Gly1141=)
c.3384C>A (p.Gly1128=)
c.3345C>A (p.Gly1115=)
c.3069C>A (p.Gly1023=)
c.3030C>A (p.Gly1010=)
c.3420C>A (p.Gly1140=)
c.3327C>A (p.Gly1109=)
c.2802C>A (p.Gly934=)
c.3117C>A (p.Gly1039=)
n.7689C>A
3g.9473346C>GCA432365775SETD5n.1776C>G
c.3402C>G (p.Gly1134=)
n.3810C>G
n.875C>G
n.4381C>G
n.4737C>G
c.3306C>G (p.Gly1102=)
c.*3452C>G (n.*3452C>G)
c.*3375C>G (n.*3375C>G)
c.*3680C>G (n.*3680C>G)
c.*3411C>G (n.*3411C>G)
c.3012C>G (p.Gly1004=)
c.2308C>G
c.3363C>G (p.Gly1121=)
c.2342C>G
c.1297C>G
n.2647C>G
n.374C>G
n.111C>G
n.3470C>G
c.3480C>G (p.Gly1160=)
c.3459C>G (p.Gly1153=)
c.3441C>G (p.Gly1147=)
c.3423C>G (p.Gly1141=)
c.3384C>G (p.Gly1128=)
c.3345C>G (p.Gly1115=)
c.3069C>G (p.Gly1023=)
c.3030C>G (p.Gly1010=)
c.3420C>G (p.Gly1140=)
c.3327C>G (p.Gly1109=)
c.2802C>G (p.Gly934=)
c.3117C>G (p.Gly1039=)
n.7689C>G
3g.9473346C>TCA432365773SETD5n.1776C>T
c.3402C>T (p.Gly1134=)
n.3810C>T
n.875C>T
n.4381C>T
n.4737C>T
c.3306C>T (p.Gly1102=)
c.*3452C>T (n.*3452C>T)
c.*3375C>T (n.*3375C>T)
c.*3680C>T (n.*3680C>T)
c.*3411C>T (n.*3411C>T)
c.3012C>T (p.Gly1004=)
c.2308C>T
c.3363C>T (p.Gly1121=)
c.2342C>T
c.1297C>T
n.2647C>T
n.374C>T
n.111C>T
n.3470C>T
c.3480C>T (p.Gly1160=)
c.3459C>T (p.Gly1153=)
c.3441C>T (p.Gly1147=)
c.3423C>T (p.Gly1141=)
c.3384C>T (p.Gly1128=)
c.3345C>T (p.Gly1115=)
c.3069C>T (p.Gly1023=)
c.3030C>T (p.Gly1010=)
c.3420C>T (p.Gly1140=)
c.3327C>T (p.Gly1109=)
c.2802C>T (p.Gly934=)
c.3117C>T (p.Gly1039=)
n.7689C>T
3g.9473347A>CCA351685546SETD5n.1777A>C
c.3403A>C (p.Ser1135Arg)
n.3811A>C
n.876A>C
n.4382A>C
n.4738A>C
c.3307A>C (p.Ser1103Arg)
c.*3453A>C (n.*3453A>C)
c.*3376A>C (n.*3376A>C)
c.*3681A>C (n.*3681A>C)
c.*3412A>C (n.*3412A>C)
c.3013A>C (p.Ser1005Arg)
c.2309A>C
c.3364A>C (p.Ser1122Arg)
c.2343A>C
c.1298A>C
n.2648A>C
n.375A>C
n.112A>C
n.3471A>C
c.3481A>C (p.Ser1161Arg)
c.3460A>C (p.Ser1154Arg)
c.3442A>C (p.Ser1148Arg)
c.3424A>C (p.Ser1142Arg)
c.3385A>C (p.Ser1129Arg)
c.3346A>C (p.Ser1116Arg)
c.3070A>C (p.Ser1024Arg)
c.3031A>C (p.Ser1011Arg)
c.3421A>C (p.Ser1141Arg)
c.3328A>C (p.Ser1110Arg)
c.2803A>C (p.Ser935Arg)
c.3118A>C (p.Ser1040Arg)
n.7690A>C
3g.9473347A>GCA351685549SETD5n.1777A>G
c.3403A>G (p.Ser1135Gly)
n.3811A>G
n.876A>G
n.4382A>G
n.4738A>G
c.3307A>G (p.Ser1103Gly)
c.*3453A>G (n.*3453A>G)
c.*3376A>G (n.*3376A>G)
c.*3681A>G (n.*3681A>G)
c.*3412A>G (n.*3412A>G)
c.3013A>G (p.Ser1005Gly)
c.2309A>G
c.3364A>G (p.Ser1122Gly)
c.2343A>G
c.1298A>G
n.2648A>G
n.375A>G
n.112A>G
n.3471A>G
c.3481A>G (p.Ser1161Gly)
c.3460A>G (p.Ser1154Gly)
c.3442A>G (p.Ser1148Gly)
c.3424A>G (p.Ser1142Gly)
c.3385A>G (p.Ser1129Gly)
c.3346A>G (p.Ser1116Gly)
c.3070A>G (p.Ser1024Gly)
c.3031A>G (p.Ser1011Gly)
c.3421A>G (p.Ser1141Gly)
c.3328A>G (p.Ser1110Gly)
c.2803A>G (p.Ser935Gly)
c.3118A>G (p.Ser1040Gly)
n.7690A>G
 ClinVar dbSNP
3g.9473347A>TCA351685553SETD5n.1777A>T
c.3403A>T (p.Ser1135Cys)
n.3811A>T
n.876A>T
n.4382A>T
n.4738A>T
c.3307A>T (p.Ser1103Cys)
c.*3453A>T (n.*3453A>T)
c.*3376A>T (n.*3376A>T)
c.*3681A>T (n.*3681A>T)
c.*3412A>T (n.*3412A>T)
c.3013A>T (p.Ser1005Cys)
c.2309A>T
c.3364A>T (p.Ser1122Cys)
c.2343A>T
c.1298A>T
n.2648A>T
n.375A>T
n.112A>T
n.3471A>T
c.3481A>T (p.Ser1161Cys)
c.3460A>T (p.Ser1154Cys)
c.3442A>T (p.Ser1148Cys)
c.3424A>T (p.Ser1142Cys)
c.3385A>T (p.Ser1129Cys)
c.3346A>T (p.Ser1116Cys)
c.3070A>T (p.Ser1024Cys)
c.3031A>T (p.Ser1011Cys)
c.3421A>T (p.Ser1141Cys)
c.3328A>T (p.Ser1110Cys)
c.2803A>T (p.Ser935Cys)
c.3118A>T (p.Ser1040Cys)
n.7690A>T
3g.9473348G>ACA351685559SETD5n.1778G>A
c.3404G>A (p.Ser1135Asn)
n.3812G>A
n.877G>A
n.4383G>A
n.4739G>A
c.3308G>A (p.Ser1103Asn)
c.*3454G>A (n.*3454G>A)
c.*3377G>A (n.*3377G>A)
c.*3682G>A (n.*3682G>A)
c.*3413G>A (n.*3413G>A)
c.3014G>A (p.Ser1005Asn)
c.2310G>A
c.3365G>A (p.Ser1122Asn)
c.2344G>A
c.1299G>A
n.2649G>A
n.376G>A
n.113G>A
n.3472G>A
c.3482G>A (p.Ser1161Asn)
c.3461G>A (p.Ser1154Asn)
c.3443G>A (p.Ser1148Asn)
c.3425G>A (p.Ser1142Asn)
c.3386G>A (p.Ser1129Asn)
c.3347G>A (p.Ser1116Asn)
c.3071G>A (p.Ser1024Asn)
c.3032G>A (p.Ser1011Asn)
c.3422G>A (p.Ser1141Asn)
c.3329G>A (p.Ser1110Asn)
c.2804G>A (p.Ser935Asn)
c.3119G>A (p.Ser1040Asn)
n.7691G>A
 gnomAD v4
3g.9473348G>CCA351685562SETD5n.1778G>C
c.3404G>C (p.Ser1135Thr)
n.3812G>C
n.877G>C
n.4383G>C
n.4739G>C
c.3308G>C (p.Ser1103Thr)
c.*3454G>C (n.*3454G>C)
c.*3377G>C (n.*3377G>C)
c.*3682G>C (n.*3682G>C)
c.*3413G>C (n.*3413G>C)
c.3014G>C (p.Ser1005Thr)
c.2310G>C
c.3365G>C (p.Ser1122Thr)
c.2344G>C
c.1299G>C
n.2649G>C
n.376G>C
n.113G>C
n.3472G>C
c.3482G>C (p.Ser1161Thr)
c.3461G>C (p.Ser1154Thr)
c.3443G>C (p.Ser1148Thr)
c.3425G>C (p.Ser1142Thr)
c.3386G>C (p.Ser1129Thr)
c.3347G>C (p.Ser1116Thr)
c.3071G>C (p.Ser1024Thr)
c.3032G>C (p.Ser1011Thr)
c.3422G>C (p.Ser1141Thr)
c.3329G>C (p.Ser1110Thr)
c.2804G>C (p.Ser935Thr)
c.3119G>C (p.Ser1040Thr)
n.7691G>C
3g.9473348G>TCA351685565SETD5n.1778G>T
c.3404G>T (p.Ser1135Ile)
n.3812G>T
n.877G>T
n.4383G>T
n.4739G>T
c.3308G>T (p.Ser1103Ile)
c.*3454G>T (n.*3454G>T)
c.*3377G>T (n.*3377G>T)
c.*3682G>T (n.*3682G>T)
c.*3413G>T (n.*3413G>T)
c.3014G>T (p.Ser1005Ile)
c.2310G>T
c.3365G>T (p.Ser1122Ile)
c.2344G>T
c.1299G>T
n.2649G>T
n.376G>T
n.113G>T
n.3472G>T
c.3482G>T (p.Ser1161Ile)
c.3461G>T (p.Ser1154Ile)
c.3443G>T (p.Ser1148Ile)
c.3425G>T (p.Ser1142Ile)
c.3386G>T (p.Ser1129Ile)
c.3347G>T (p.Ser1116Ile)
c.3071G>T (p.Ser1024Ile)
c.3032G>T (p.Ser1011Ile)
c.3422G>T (p.Ser1141Ile)
c.3329G>T (p.Ser1110Ile)
c.2804G>T (p.Ser935Ile)
c.3119G>T (p.Ser1040Ile)
n.7691G>T
 gnomAD v4
3g.9473349C>ACA351685571SETD5n.1779C>A
c.3405C>A (p.Ser1135Arg)
n.3813C>A
n.878C>A
n.4384C>A
n.4740C>A
c.3309C>A (p.Ser1103Arg)
c.*3455C>A (n.*3455C>A)
c.*3378C>A (n.*3378C>A)
c.*3683C>A (n.*3683C>A)
c.*3414C>A (n.*3414C>A)
c.3015C>A (p.Ser1005Arg)
c.2311C>A
c.3366C>A (p.Ser1122Arg)
c.2345C>A
c.1300C>A
n.2650C>A
n.377C>A
n.114C>A
n.3473C>A
c.3483C>A (p.Ser1161Arg)
c.3462C>A (p.Ser1154Arg)
c.3444C>A (p.Ser1148Arg)
c.3426C>A (p.Ser1142Arg)
c.3387C>A (p.Ser1129Arg)
c.3348C>A (p.Ser1116Arg)
c.3072C>A (p.Ser1024Arg)
c.3033C>A (p.Ser1011Arg)
c.3423C>A (p.Ser1141Arg)
c.3330C>A (p.Ser1110Arg)
c.2805C>A (p.Ser935Arg)
c.3120C>A (p.Ser1040Arg)
n.7692C>A
3g.9473349C=CA1344740167SETD5n.1779C=
c.3405C= (p.Ser1135=)
n.3813C=
n.878C=
n.4384C=
n.4740C=
c.3309C= (p.Ser1103=)
c.*3455C= (n.*3455C=)
c.*3378C= (n.*3378C=)
c.*3683C= (n.*3683C=)
c.*3414C= (n.*3414C=)
c.3015C= (p.Ser1005=)
c.2311C=
c.3366C= (p.Ser1122=)
c.2345C=
c.1300C=
n.2650C=
n.377C=
n.114C=
n.3473C=
c.3483C= (p.Ser1161=)
c.3462C= (p.Ser1154=)
c.3444C= (p.Ser1148=)
c.3426C= (p.Ser1142=)
c.3387C= (p.Ser1129=)
c.3348C= (p.Ser1116=)
c.3072C= (p.Ser1024=)
c.3033C= (p.Ser1011=)
c.3423C= (p.Ser1141=)
c.3330C= (p.Ser1110=)
c.2805C= (p.Ser935=)
c.3120C= (p.Ser1040=)
n.7692C=
3g.9473349C>GCA351685575SETD5n.1779C>G
c.3405C>G (p.Ser1135Arg)
n.3813C>G
n.878C>G
n.4384C>G
n.4740C>G
c.3309C>G (p.Ser1103Arg)
c.*3455C>G (n.*3455C>G)
c.*3378C>G (n.*3378C>G)
c.*3683C>G (n.*3683C>G)
c.*3414C>G (n.*3414C>G)
c.3015C>G (p.Ser1005Arg)
c.2311C>G
c.3366C>G (p.Ser1122Arg)
c.2345C>G
c.1300C>G
n.2650C>G
n.377C>G
n.114C>G
n.3473C>G
c.3483C>G (p.Ser1161Arg)
c.3462C>G (p.Ser1154Arg)
c.3444C>G (p.Ser1148Arg)
c.3426C>G (p.Ser1142Arg)
c.3387C>G (p.Ser1129Arg)
c.3348C>G (p.Ser1116Arg)
c.3072C>G (p.Ser1024Arg)
c.3033C>G (p.Ser1011Arg)
c.3423C>G (p.Ser1141Arg)
c.3330C>G (p.Ser1110Arg)
c.2805C>G (p.Ser935Arg)
c.3120C>G (p.Ser1040Arg)
n.7692C>G
3g.9473349C>TCA2239658SETD5n.1779C>T
c.3405C>T (p.Ser1135=)
n.3813C>T
n.878C>T
n.4384C>T
n.4740C>T
c.3309C>T (p.Ser1103=)
c.*3455C>T (n.*3455C>T)
c.*3378C>T (n.*3378C>T)
c.*3683C>T (n.*3683C>T)
c.*3414C>T (n.*3414C>T)
c.3015C>T (p.Ser1005=)
c.2311C>T
c.3366C>T (p.Ser1122=)
c.2345C>T
c.1300C>T
n.2650C>T
n.377C>T
n.114C>T
n.3473C>T
c.3483C>T (p.Ser1161=)
c.3462C>T (p.Ser1154=)
c.3444C>T (p.Ser1148=)
c.3426C>T (p.Ser1142=)
c.3387C>T (p.Ser1129=)
c.3348C>T (p.Ser1116=)
c.3072C>T (p.Ser1024=)
c.3033C>T (p.Ser1011=)
c.3423C>T (p.Ser1141=)
c.3330C>T (p.Ser1110=)
c.2805C>T (p.Ser935=)
c.3120C>T (p.Ser1040=)
n.7692C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9473350A>CCA351685579SETD5n.1780A>C
c.3406A>C (p.Ser1136Arg)
n.3814A>C
n.879A>C
n.4385A>C
n.4741A>C
c.3310A>C (p.Ser1104Arg)
c.*3456A>C (n.*3456A>C)
c.*3379A>C (n.*3379A>C)
c.*3684A>C (n.*3684A>C)
c.*3415A>C (n.*3415A>C)
c.3016A>C (p.Ser1006Arg)
c.2312A>C
c.3367A>C (p.Ser1123Arg)
c.2346A>C
c.1301A>C
n.2651A>C
n.378A>C
n.115A>C
n.3474A>C
c.3484A>C (p.Ser1162Arg)
c.3463A>C (p.Ser1155Arg)
c.3445A>C (p.Ser1149Arg)
c.3427A>C (p.Ser1143Arg)
c.3388A>C (p.Ser1130Arg)
c.3349A>C (p.Ser1117Arg)
c.3073A>C (p.Ser1025Arg)
c.3034A>C (p.Ser1012Arg)
c.3424A>C (p.Ser1142Arg)
c.3331A>C (p.Ser1111Arg)
c.2806A>C (p.Ser936Arg)
c.3121A>C (p.Ser1041Arg)
n.7693A>C
3g.9473350A>GCA351685585SETD5n.1780A>G
c.3406A>G (p.Ser1136Gly)
n.3814A>G
n.879A>G
n.4385A>G
n.4741A>G
c.3310A>G (p.Ser1104Gly)
c.*3456A>G (n.*3456A>G)
c.*3379A>G (n.*3379A>G)
c.*3684A>G (n.*3684A>G)
c.*3415A>G (n.*3415A>G)
c.3016A>G (p.Ser1006Gly)
c.2312A>G
c.3367A>G (p.Ser1123Gly)
c.2346A>G
c.1301A>G
n.2651A>G
n.378A>G
n.115A>G
n.3474A>G
c.3484A>G (p.Ser1162Gly)
c.3463A>G (p.Ser1155Gly)
c.3445A>G (p.Ser1149Gly)
c.3427A>G (p.Ser1143Gly)
c.3388A>G (p.Ser1130Gly)
c.3349A>G (p.Ser1117Gly)
c.3073A>G (p.Ser1025Gly)
c.3034A>G (p.Ser1012Gly)
c.3424A>G (p.Ser1142Gly)
c.3331A>G (p.Ser1111Gly)
c.2806A>G (p.Ser936Gly)
c.3121A>G (p.Ser1041Gly)
n.7693A>G
3g.9473350A>TCA351685583SETD5n.1780A>T
c.3406A>T (p.Ser1136Cys)
n.3814A>T
n.879A>T
n.4385A>T
n.4741A>T
c.3310A>T (p.Ser1104Cys)
c.*3456A>T (n.*3456A>T)
c.*3379A>T (n.*3379A>T)
c.*3684A>T (n.*3684A>T)
c.*3415A>T (n.*3415A>T)
c.3016A>T (p.Ser1006Cys)
c.2312A>T
c.3367A>T (p.Ser1123Cys)
c.2346A>T
c.1301A>T
n.2651A>T
n.378A>T
n.115A>T
n.3474A>T
c.3484A>T (p.Ser1162Cys)
c.3463A>T (p.Ser1155Cys)
c.3445A>T (p.Ser1149Cys)
c.3427A>T (p.Ser1143Cys)
c.3388A>T (p.Ser1130Cys)
c.3349A>T (p.Ser1117Cys)
c.3073A>T (p.Ser1025Cys)
c.3034A>T (p.Ser1012Cys)
c.3424A>T (p.Ser1142Cys)
c.3331A>T (p.Ser1111Cys)
c.2806A>T (p.Ser936Cys)
c.3121A>T (p.Ser1041Cys)
n.7693A>T
3g.9473351G>ACA351685593SETD5n.1781G>A
c.3407G>A (p.Ser1136Asn)
n.3815G>A
n.880G>A
n.4386G>A
n.4742G>A
c.3311G>A (p.Ser1104Asn)
c.*3457G>A (n.*3457G>A)
c.*3380G>A (n.*3380G>A)
c.*3685G>A (n.*3685G>A)
c.*3416G>A (n.*3416G>A)
c.3017G>A (p.Ser1006Asn)
c.2313G>A
c.3368G>A (p.Ser1123Asn)
c.2347G>A
c.1302G>A
n.2652G>A
n.379G>A
n.116G>A
n.3475G>A
c.3485G>A (p.Ser1162Asn)
c.3464G>A (p.Ser1155Asn)
c.3446G>A (p.Ser1149Asn)
c.3428G>A (p.Ser1143Asn)
c.3389G>A (p.Ser1130Asn)
c.3350G>A (p.Ser1117Asn)
c.3074G>A (p.Ser1025Asn)
c.3035G>A (p.Ser1012Asn)
c.3425G>A (p.Ser1142Asn)
c.3332G>A (p.Ser1111Asn)
c.2807G>A (p.Ser936Asn)
c.3122G>A (p.Ser1041Asn)
n.7694G>A
3g.9473351G>CCA351685598SETD5n.1781G>C
c.3407G>C (p.Ser1136Thr)
n.3815G>C
n.880G>C
n.4386G>C
n.4742G>C
c.3311G>C (p.Ser1104Thr)
c.*3457G>C (n.*3457G>C)
c.*3380G>C (n.*3380G>C)
c.*3685G>C (n.*3685G>C)
c.*3416G>C (n.*3416G>C)
c.3017G>C (p.Ser1006Thr)
c.2313G>C
c.3368G>C (p.Ser1123Thr)
c.2347G>C
c.1302G>C
n.2652G>C
n.379G>C
n.116G>C
n.3475G>C
c.3485G>C (p.Ser1162Thr)
c.3464G>C (p.Ser1155Thr)
c.3446G>C (p.Ser1149Thr)
c.3428G>C (p.Ser1143Thr)
c.3389G>C (p.Ser1130Thr)
c.3350G>C (p.Ser1117Thr)
c.3074G>C (p.Ser1025Thr)
c.3035G>C (p.Ser1012Thr)
c.3425G>C (p.Ser1142Thr)
c.3332G>C (p.Ser1111Thr)
c.2807G>C (p.Ser936Thr)
c.3122G>C (p.Ser1041Thr)
n.7694G>C
3g.9473351G>TCA351685596SETD5n.1781G>T
c.3407G>T (p.Ser1136Ile)
n.3815G>T
n.880G>T
n.4386G>T
n.4742G>T
c.3311G>T (p.Ser1104Ile)
c.*3457G>T (n.*3457G>T)
c.*3380G>T (n.*3380G>T)
c.*3685G>T (n.*3685G>T)
c.*3416G>T (n.*3416G>T)
c.3017G>T (p.Ser1006Ile)
c.2313G>T
c.3368G>T (p.Ser1123Ile)
c.2347G>T
c.1302G>T
n.2652G>T
n.379G>T
n.116G>T
n.3475G>T
c.3485G>T (p.Ser1162Ile)
c.3464G>T (p.Ser1155Ile)
c.3446G>T (p.Ser1149Ile)
c.3428G>T (p.Ser1143Ile)
c.3389G>T (p.Ser1130Ile)
c.3350G>T (p.Ser1117Ile)
c.3074G>T (p.Ser1025Ile)
c.3035G>T (p.Ser1012Ile)
c.3425G>T (p.Ser1142Ile)
c.3332G>T (p.Ser1111Ile)
c.2807G>T (p.Ser936Ile)
c.3122G>T (p.Ser1041Ile)
n.7694G>T
3g.9473352T>ACA351685606SETD5n.1782T>A
c.3408T>A (p.Ser1136Arg)
n.3816T>A
n.881T>A
n.4387T>A
n.4743T>A
c.3312T>A (p.Ser1104Arg)
c.*3458T>A (n.*3458T>A)
c.*3381T>A (n.*3381T>A)
c.*3686T>A (n.*3686T>A)
c.*3417T>A (n.*3417T>A)
c.3018T>A (p.Ser1006Arg)
c.2314T>A
c.3369T>A (p.Ser1123Arg)
c.2348T>A
c.1303T>A
n.2653T>A
n.380T>A
n.117T>A
n.3476T>A
c.3486T>A (p.Ser1162Arg)
c.3465T>A (p.Ser1155Arg)
c.3447T>A (p.Ser1149Arg)
c.3429T>A (p.Ser1143Arg)
c.3390T>A (p.Ser1130Arg)
c.3351T>A (p.Ser1117Arg)
c.3075T>A (p.Ser1025Arg)
c.3036T>A (p.Ser1012Arg)
c.3426T>A (p.Ser1142Arg)
c.3333T>A (p.Ser1111Arg)
c.2808T>A (p.Ser936Arg)
c.3123T>A (p.Ser1041Arg)
n.7695T>A
3g.9473352T>CCA432365776SETD5n.1782T>C
c.3408T>C (p.Ser1136=)
n.3816T>C
n.881T>C
n.4387T>C
n.4743T>C
c.3312T>C (p.Ser1104=)
c.*3458T>C (n.*3458T>C)
c.*3381T>C (n.*3381T>C)
c.*3686T>C (n.*3686T>C)
c.*3417T>C (n.*3417T>C)
c.3018T>C (p.Ser1006=)
c.2314T>C
c.3369T>C (p.Ser1123=)
c.2348T>C
c.1303T>C
n.2653T>C
n.380T>C
n.117T>C
n.3476T>C
c.3486T>C (p.Ser1162=)
c.3465T>C (p.Ser1155=)
c.3447T>C (p.Ser1149=)
c.3429T>C (p.Ser1143=)
c.3390T>C (p.Ser1130=)
c.3351T>C (p.Ser1117=)
c.3075T>C (p.Ser1025=)
c.3036T>C (p.Ser1012=)
c.3426T>C (p.Ser1142=)
c.3333T>C (p.Ser1111=)
c.2808T>C (p.Ser936=)
c.3123T>C (p.Ser1041=)
n.7695T>C
3g.9473352T>GCA351685611SETD5n.1782T>G
c.3408T>G (p.Ser1136Arg)
n.3816T>G
n.881T>G
n.4387T>G
n.4743T>G
c.3312T>G (p.Ser1104Arg)
c.*3458T>G (n.*3458T>G)
c.*3381T>G (n.*3381T>G)
c.*3686T>G (n.*3686T>G)
c.*3417T>G (n.*3417T>G)
c.3018T>G (p.Ser1006Arg)
c.2314T>G
c.3369T>G (p.Ser1123Arg)
c.2348T>G
c.1303T>G
n.2653T>G
n.380T>G
n.117T>G
n.3476T>G
c.3486T>G (p.Ser1162Arg)
c.3465T>G (p.Ser1155Arg)
c.3447T>G (p.Ser1149Arg)
c.3429T>G (p.Ser1143Arg)
c.3390T>G (p.Ser1130Arg)
c.3351T>G (p.Ser1117Arg)
c.3075T>G (p.Ser1025Arg)
c.3036T>G (p.Ser1012Arg)
c.3426T>G (p.Ser1142Arg)
c.3333T>G (p.Ser1111Arg)
c.2808T>G (p.Ser936Arg)
c.3123T>G (p.Ser1041Arg)
n.7695T>G
3g.9473353A=CA1344740171SETD5n.1783A=
c.3409A= (p.Asn1137=)
n.3817A=
n.882A=
n.4388A=
n.4744A=
c.3313A= (p.Asn1105=)
c.*3459A= (n.*3459A=)
c.*3382A= (n.*3382A=)
c.*3687A= (n.*3687A=)
c.*3418A= (n.*3418A=)
c.3019A= (p.Asn1007=)
c.2315A=
c.3370A= (p.Asn1124=)
c.2349A=
c.1304A=
n.2654A=
n.381A=
n.118A=
n.3477A=
c.3487A= (p.Asn1163=)
c.3466A= (p.Asn1156=)
c.3448A= (p.Asn1150=)
c.3430A= (p.Asn1144=)
c.3391A= (p.Asn1131=)
c.3352A= (p.Asn1118=)
c.3076A= (p.Asn1026=)
c.3037A= (p.Asn1013=)
c.3427A= (p.Asn1143=)
c.3334A= (p.Asn1112=)
c.2809A= (p.Asn937=)
c.3124A= (p.Asn1042=)
n.7696A=
3g.9473353A>CCA351685615SETD5n.1783A>C
c.3409A>C (p.Asn1137His)
n.3817A>C
n.882A>C
n.4388A>C
n.4744A>C
c.3313A>C (p.Asn1105His)
c.*3459A>C (n.*3459A>C)
c.*3382A>C (n.*3382A>C)
c.*3687A>C (n.*3687A>C)
c.*3418A>C (n.*3418A>C)
c.3019A>C (p.Asn1007His)
c.2315A>C
c.3370A>C (p.Asn1124His)
c.2349A>C
c.1304A>C
n.2654A>C
n.381A>C
n.118A>C
n.3477A>C
c.3487A>C (p.Asn1163His)
c.3466A>C (p.Asn1156His)
c.3448A>C (p.Asn1150His)
c.3430A>C (p.Asn1144His)
c.3391A>C (p.Asn1131His)
c.3352A>C (p.Asn1118His)
c.3076A>C (p.Asn1026His)
c.3037A>C (p.Asn1013His)
c.3427A>C (p.Asn1143His)
c.3334A>C (p.Asn1112His)
c.2809A>C (p.Asn937His)
c.3124A>C (p.Asn1042His)
n.7696A>C
3g.9473353A>GCA2239659SETD5n.1783A>G
c.3409A>G (p.Asn1137Asp)
n.3817A>G
n.882A>G
n.4388A>G
n.4744A>G
c.3313A>G (p.Asn1105Asp)
c.*3459A>G (n.*3459A>G)
c.*3382A>G (n.*3382A>G)
c.*3687A>G (n.*3687A>G)
c.*3418A>G (n.*3418A>G)
c.3019A>G (p.Asn1007Asp)
c.2315A>G
c.3370A>G (p.Asn1124Asp)
c.2349A>G
c.1304A>G
n.2654A>G
n.381A>G
n.118A>G
n.3477A>G
c.3487A>G (p.Asn1163Asp)
c.3466A>G (p.Asn1156Asp)
c.3448A>G (p.Asn1150Asp)
c.3430A>G (p.Asn1144Asp)
c.3391A>G (p.Asn1131Asp)
c.3352A>G (p.Asn1118Asp)
c.3076A>G (p.Asn1026Asp)
c.3037A>G (p.Asn1013Asp)
c.3427A>G (p.Asn1143Asp)
c.3334A>G (p.Asn1112Asp)
c.2809A>G (p.Asn937Asp)
c.3124A>G (p.Asn1042Asp)
n.7696A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.9473353A>TCA351685620SETD5n.1783A>T
c.3409A>T (p.Asn1137Tyr)
n.3817A>T
n.882A>T
n.4388A>T
n.4744A>T
c.3313A>T (p.Asn1105Tyr)
c.*3459A>T (n.*3459A>T)
c.*3382A>T (n.*3382A>T)
c.*3687A>T (n.*3687A>T)
c.*3418A>T (n.*3418A>T)
c.3019A>T (p.Asn1007Tyr)
c.2315A>T
c.3370A>T (p.Asn1124Tyr)
c.2349A>T
c.1304A>T
n.2654A>T
n.381A>T
n.118A>T
n.3477A>T
c.3487A>T (p.Asn1163Tyr)
c.3466A>T (p.Asn1156Tyr)
c.3448A>T (p.Asn1150Tyr)
c.3430A>T (p.Asn1144Tyr)
c.3391A>T (p.Asn1131Tyr)
c.3352A>T (p.Asn1118Tyr)
c.3076A>T (p.Asn1026Tyr)
c.3037A>T (p.Asn1013Tyr)
c.3427A>T (p.Asn1143Tyr)
c.3334A>T (p.Asn1112Tyr)
c.2809A>T (p.Asn937Tyr)
c.3124A>T (p.Asn1042Tyr)
n.7696A>T
3g.9473354A>CCA351685626SETD5n.1784A>C
c.3410A>C (p.Asn1137Thr)
n.3818A>C
n.883A>C
n.4389A>C
n.4745A>C
c.3314A>C (p.Asn1105Thr)
c.*3460A>C (n.*3460A>C)
c.*3383A>C (n.*3383A>C)
c.*3688A>C (n.*3688A>C)
c.*3419A>C (n.*3419A>C)
c.3020A>C (p.Asn1007Thr)
c.2316A>C
c.3371A>C (p.Asn1124Thr)
c.2350A>C
c.1305A>C
n.2655A>C
n.382A>C
n.119A>C
n.3478A>C
c.3488A>C (p.Asn1163Thr)
c.3467A>C (p.Asn1156Thr)
c.3449A>C (p.Asn1150Thr)
c.3431A>C (p.Asn1144Thr)
c.3392A>C (p.Asn1131Thr)
c.3353A>C (p.Asn1118Thr)
c.3077A>C (p.Asn1026Thr)
c.3038A>C (p.Asn1013Thr)
c.3428A>C (p.Asn1143Thr)
c.3335A>C (p.Asn1112Thr)
c.2810A>C (p.Asn937Thr)
c.3125A>C (p.Asn1042Thr)
n.7697A>C
3g.9473354A>GCA351685629SETD5n.1784A>G
c.3410A>G (p.Asn1137Ser)
n.3818A>G
n.883A>G
n.4389A>G
n.4745A>G
c.3314A>G (p.Asn1105Ser)
c.*3460A>G (n.*3460A>G)
c.*3383A>G (n.*3383A>G)
c.*3688A>G (n.*3688A>G)
c.*3419A>G (n.*3419A>G)
c.3020A>G (p.Asn1007Ser)
c.2316A>G
c.3371A>G (p.Asn1124Ser)
c.2350A>G
c.1305A>G
n.2655A>G
n.382A>G
n.119A>G
n.3478A>G
c.3488A>G (p.Asn1163Ser)
c.3467A>G (p.Asn1156Ser)
c.3449A>G (p.Asn1150Ser)
c.3431A>G (p.Asn1144Ser)
c.3392A>G (p.Asn1131Ser)
c.3353A>G (p.Asn1118Ser)
c.3077A>G (p.Asn1026Ser)
c.3038A>G (p.Asn1013Ser)
c.3428A>G (p.Asn1143Ser)
c.3335A>G (p.Asn1112Ser)
c.2810A>G (p.Asn937Ser)
c.3125A>G (p.Asn1042Ser)
n.7697A>G
3g.9473354A>TCA351685633SETD5n.1784A>T
c.3410A>T (p.Asn1137Ile)
n.3818A>T
n.883A>T
n.4389A>T
n.4745A>T
c.3314A>T (p.Asn1105Ile)
c.*3460A>T (n.*3460A>T)
c.*3383A>T (n.*3383A>T)
c.*3688A>T (n.*3688A>T)
c.*3419A>T (n.*3419A>T)
c.3020A>T (p.Asn1007Ile)
c.2316A>T
c.3371A>T (p.Asn1124Ile)
c.2350A>T
c.1305A>T
n.2655A>T
n.382A>T
n.119A>T
n.3478A>T
c.3488A>T (p.Asn1163Ile)
c.3467A>T (p.Asn1156Ile)
c.3449A>T (p.Asn1150Ile)
c.3431A>T (p.Asn1144Ile)
c.3392A>T (p.Asn1131Ile)
c.3353A>T (p.Asn1118Ile)
c.3077A>T (p.Asn1026Ile)
c.3038A>T (p.Asn1013Ile)
c.3428A>T (p.Asn1143Ile)
c.3335A>T (p.Asn1112Ile)
c.2810A>T (p.Asn937Ile)
c.3125A>T (p.Asn1042Ile)
n.7697A>T
3g.9473355C>ACA351685639SETD5n.1785C>A
c.3411C>A (p.Asn1137Lys)
n.3819C>A
n.884C>A
n.4390C>A
n.4746C>A
c.3315C>A (p.Asn1105Lys)
c.*3461C>A (n.*3461C>A)
c.*3384C>A (n.*3384C>A)
c.*3689C>A (n.*3689C>A)
c.*3420C>A (n.*3420C>A)
c.3021C>A (p.Asn1007Lys)
c.2317C>A
c.3372C>A (p.Asn1124Lys)
c.2351C>A
c.1306C>A
n.2656C>A
n.383C>A
n.120C>A
n.3479C>A
c.3489C>A (p.Asn1163Lys)
c.3468C>A (p.Asn1156Lys)
c.3450C>A (p.Asn1150Lys)
c.3432C>A (p.Asn1144Lys)
c.3393C>A (p.Asn1131Lys)
c.3354C>A (p.Asn1118Lys)
c.3078C>A (p.Asn1026Lys)
c.3039C>A (p.Asn1013Lys)
c.3429C>A (p.Asn1143Lys)
c.3336C>A (p.Asn1112Lys)
c.2811C>A (p.Asn937Lys)
c.3126C>A (p.Asn1042Lys)
n.7698C>A
3g.9473355C=CA1344740174SETD5n.1785C=
c.3411C= (p.Asn1137=)
n.3819C=
n.884C=
n.4390C=
n.4746C=
c.3315C= (p.Asn1105=)
c.*3461C= (n.*3461C=)
c.*3384C= (n.*3384C=)
c.*3689C= (n.*3689C=)
c.*3420C= (n.*3420C=)
c.3021C= (p.Asn1007=)
c.2317C=
c.3372C= (p.Asn1124=)
c.2351C=
c.1306C=
n.2656C=
n.383C=
n.120C=
n.3479C=
c.3489C= (p.Asn1163=)
c.3468C= (p.Asn1156=)
c.3450C= (p.Asn1150=)
c.3432C= (p.Asn1144=)
c.3393C= (p.Asn1131=)
c.3354C= (p.Asn1118=)
c.3078C= (p.Asn1026=)
c.3039C= (p.Asn1013=)
c.3429C= (p.Asn1143=)
c.3336C= (p.Asn1112=)
c.2811C= (p.Asn937=)
c.3126C= (p.Asn1042=)
n.7698C=
3g.9473355C>GCA351685641SETD5n.1785C>G
c.3411C>G (p.Asn1137Lys)
n.3819C>G
n.884C>G
n.4390C>G
n.4746C>G
c.3315C>G (p.Asn1105Lys)
c.*3461C>G (n.*3461C>G)
c.*3384C>G (n.*3384C>G)
c.*3689C>G (n.*3689C>G)
c.*3420C>G (n.*3420C>G)
c.3021C>G (p.Asn1007Lys)
c.2317C>G
c.3372C>G (p.Asn1124Lys)
c.2351C>G
c.1306C>G
n.2656C>G
n.383C>G
n.120C>G
n.3479C>G
c.3489C>G (p.Asn1163Lys)
c.3468C>G (p.Asn1156Lys)
c.3450C>G (p.Asn1150Lys)
c.3432C>G (p.Asn1144Lys)
c.3393C>G (p.Asn1131Lys)
c.3354C>G (p.Asn1118Lys)
c.3078C>G (p.Asn1026Lys)
c.3039C>G (p.Asn1013Lys)
c.3429C>G (p.Asn1143Lys)
c.3336C>G (p.Asn1112Lys)
c.2811C>G (p.Asn937Lys)
c.3126C>G (p.Asn1042Lys)
n.7698C>G
3g.9473355C>TCA2239660SETD5n.1785C>T
c.3411C>T (p.Asn1137=)
n.3819C>T
n.884C>T
n.4390C>T
n.4746C>T
c.3315C>T (p.Asn1105=)
c.*3461C>T (n.*3461C>T)
c.*3384C>T (n.*3384C>T)
c.*3689C>T (n.*3689C>T)
c.*3420C>T (n.*3420C>T)
c.3021C>T (p.Asn1007=)
c.2317C>T
c.3372C>T (p.Asn1124=)
c.2351C>T
c.1306C>T
n.2656C>T
n.383C>T
n.120C>T
n.3479C>T
c.3489C>T (p.Asn1163=)
c.3468C>T (p.Asn1156=)
c.3450C>T (p.Asn1150=)
c.3432C>T (p.Asn1144=)
c.3393C>T (p.Asn1131=)
c.3354C>T (p.Asn1118=)
c.3078C>T (p.Asn1026=)
c.3039C>T (p.Asn1013=)
c.3429C>T (p.Asn1143=)
c.3336C>T (p.Asn1112=)
c.2811C>T (p.Asn937=)
c.3126C>T (p.Asn1042=)
n.7698C>T
 dbSNP ExAC gnomAD v2
3g.9473356T>ACA351685651SETD5n.1786T>A
c.3412T>A (p.Ser1138Thr)
n.3820T>A
n.885T>A
n.4391T>A
n.4747T>A
c.3316T>A (p.Ser1106Thr)
c.*3462T>A (n.*3462T>A)
c.*3385T>A (n.*3385T>A)
c.*3690T>A (n.*3690T>A)
c.*3421T>A (n.*3421T>A)
c.3022T>A (p.Ser1008Thr)
c.2318T>A
c.3373T>A (p.Ser1125Thr)
c.2352T>A
c.1307T>A
n.2657T>A
n.384T>A
n.121T>A
n.3480T>A
c.3490T>A (p.Ser1164Thr)
c.3469T>A (p.Ser1157Thr)
c.3451T>A (p.Ser1151Thr)
c.3433T>A (p.Ser1145Thr)
c.3394T>A (p.Ser1132Thr)
c.3355T>A (p.Ser1119Thr)
c.3079T>A (p.Ser1027Thr)
c.3040T>A (p.Ser1014Thr)
c.3430T>A (p.Ser1144Thr)
c.3337T>A (p.Ser1113Thr)
c.2812T>A (p.Ser938Thr)
c.3127T>A (p.Ser1043Thr)
n.7699T>A
3g.9473356T>CCA351685655SETD5n.1786T>C
c.3412T>C (p.Ser1138Pro)
n.3820T>C
n.885T>C
n.4391T>C
n.4747T>C
c.3316T>C (p.Ser1106Pro)
c.*3462T>C (n.*3462T>C)
c.*3385T>C (n.*3385T>C)
c.*3690T>C (n.*3690T>C)
c.*3421T>C (n.*3421T>C)
c.3022T>C (p.Ser1008Pro)
c.2318T>C
c.3373T>C (p.Ser1125Pro)
c.2352T>C
c.1307T>C
n.2657T>C
n.384T>C
n.121T>C
n.3480T>C
c.3490T>C (p.Ser1164Pro)
c.3469T>C (p.Ser1157Pro)
c.3451T>C (p.Ser1151Pro)
c.3433T>C (p.Ser1145Pro)
c.3394T>C (p.Ser1132Pro)
c.3355T>C (p.Ser1119Pro)
c.3079T>C (p.Ser1027Pro)
c.3040T>C (p.Ser1014Pro)
c.3430T>C (p.Ser1144Pro)
c.3337T>C (p.Ser1113Pro)
c.2812T>C (p.Ser938Pro)
c.3127T>C (p.Ser1043Pro)
n.7699T>C
3g.9473356T>GCA351685660SETD5n.1786T>G
c.3412T>G (p.Ser1138Ala)
n.3820T>G
n.885T>G
n.4391T>G
n.4747T>G
c.3316T>G (p.Ser1106Ala)
c.*3462T>G (n.*3462T>G)
c.*3385T>G (n.*3385T>G)
c.*3690T>G (n.*3690T>G)
c.*3421T>G (n.*3421T>G)
c.3022T>G (p.Ser1008Ala)
c.2318T>G
c.3373T>G (p.Ser1125Ala)
c.2352T>G
c.1307T>G
n.2657T>G
n.384T>G
n.121T>G
n.3480T>G
c.3490T>G (p.Ser1164Ala)
c.3469T>G (p.Ser1157Ala)
c.3451T>G (p.Ser1151Ala)
c.3433T>G (p.Ser1145Ala)
c.3394T>G (p.Ser1132Ala)
c.3355T>G (p.Ser1119Ala)
c.3079T>G (p.Ser1027Ala)
c.3040T>G (p.Ser1014Ala)
c.3430T>G (p.Ser1144Ala)
c.3337T>G (p.Ser1113Ala)
c.2812T>G (p.Ser938Ala)
c.3127T>G (p.Ser1043Ala)
n.7699T>G
3g.9473357C>ACA351685671SETD5n.1787C>A
c.3413C>A (p.Ser1138Tyr)
n.3821C>A
n.886C>A
n.4392C>A
n.4748C>A
c.3317C>A (p.Ser1106Tyr)
c.*3463C>A (n.*3463C>A)
c.*3386C>A (n.*3386C>A)
c.*3691C>A (n.*3691C>A)
c.*3422C>A (n.*3422C>A)
c.3023C>A (p.Ser1008Tyr)
c.2319C>A
c.3374C>A (p.Ser1125Tyr)
c.2353C>A
c.1308C>A
n.2658C>A
n.385C>A
n.122C>A
n.3481C>A
c.3491C>A (p.Ser1164Tyr)
c.3470C>A (p.Ser1157Tyr)
c.3452C>A (p.Ser1151Tyr)
c.3434C>A (p.Ser1145Tyr)
c.3395C>A (p.Ser1132Tyr)
c.3356C>A (p.Ser1119Tyr)
c.3080C>A (p.Ser1027Tyr)
c.3041C>A (p.Ser1014Tyr)
c.3431C>A (p.Ser1144Tyr)
c.3338C>A (p.Ser1113Tyr)
c.2813C>A (p.Ser938Tyr)
c.3128C>A (p.Ser1043Tyr)
n.7700C>A
3g.9473357C>GCA351685675SETD5n.1787C>G
c.3413C>G (p.Ser1138Cys)
n.3821C>G
n.886C>G
n.4392C>G
n.4748C>G
c.3317C>G (p.Ser1106Cys)
c.*3463C>G (n.*3463C>G)
c.*3386C>G (n.*3386C>G)
c.*3691C>G (n.*3691C>G)
c.*3422C>G (n.*3422C>G)
c.3023C>G (p.Ser1008Cys)
c.2319C>G
c.3374C>G (p.Ser1125Cys)
c.2353C>G
c.1308C>G
n.2658C>G
n.385C>G
n.122C>G
n.3481C>G
c.3491C>G (p.Ser1164Cys)
c.3470C>G (p.Ser1157Cys)
c.3452C>G (p.Ser1151Cys)
c.3434C>G (p.Ser1145Cys)
c.3395C>G (p.Ser1132Cys)
c.3356C>G (p.Ser1119Cys)
c.3080C>G (p.Ser1027Cys)
c.3041C>G (p.Ser1014Cys)
c.3431C>G (p.Ser1144Cys)
c.3338C>G (p.Ser1113Cys)
c.2813C>G (p.Ser938Cys)
c.3128C>G (p.Ser1043Cys)
n.7700C>G
3g.9473357C>TCA351685666SETD5n.1787C>T
c.3413C>T (p.Ser1138Phe)
n.3821C>T
n.886C>T
n.4392C>T
n.4748C>T
c.3317C>T (p.Ser1106Phe)
c.*3463C>T (n.*3463C>T)
c.*3386C>T (n.*3386C>T)
c.*3691C>T (n.*3691C>T)
c.*3422C>T (n.*3422C>T)
c.3023C>T (p.Ser1008Phe)
c.2319C>T
c.3374C>T (p.Ser1125Phe)
c.2353C>T
c.1308C>T
n.2658C>T
n.385C>T
n.122C>T
n.3481C>T
c.3491C>T (p.Ser1164Phe)
c.3470C>T (p.Ser1157Phe)
c.3452C>T (p.Ser1151Phe)
c.3434C>T (p.Ser1145Phe)
c.3395C>T (p.Ser1132Phe)
c.3356C>T (p.Ser1119Phe)
c.3080C>T (p.Ser1027Phe)
c.3041C>T (p.Ser1014Phe)
c.3431C>T (p.Ser1144Phe)
c.3338C>T (p.Ser1113Phe)
c.2813C>T (p.Ser938Phe)
c.3128C>T (p.Ser1043Phe)
n.7700C>T
3g.9473358C>ACA2239661SETD5n.1788C>A
c.3414C>A (p.Ser1138=)
n.3822C>A
n.887C>A
n.4393C>A
n.4749C>A
c.3318C>A (p.Ser1106=)
c.*3464C>A (n.*3464C>A)
c.*3387C>A (n.*3387C>A)
c.*3692C>A (n.*3692C>A)
c.*3423C>A (n.*3423C>A)
c.3024C>A (p.Ser1008=)
c.2320C>A
c.3375C>A (p.Ser1125=)
c.2354C>A
c.1309C>A
n.2659C>A
n.386C>A
n.123C>A
n.3482C>A
c.3492C>A (p.Ser1164=)
c.3471C>A (p.Ser1157=)
c.3453C>A (p.Ser1151=)
c.3435C>A (p.Ser1145=)
c.3396C>A (p.Ser1132=)
c.3357C>A (p.Ser1119=)
c.3081C>A (p.Ser1027=)
c.3042C>A (p.Ser1014=)
c.3432C>A (p.Ser1144=)
c.3339C>A (p.Ser1113=)
c.2814C>A (p.Ser938=)
c.3129C>A (p.Ser1043=)
n.7701C>A
 dbSNP ExAC
3g.9473358C=CA1344740175SETD5n.1788C=
c.3414C= (p.Ser1138=)
n.3822C=
n.887C=
n.4393C=
n.4749C=
c.3318C= (p.Ser1106=)
c.*3464C= (n.*3464C=)
c.*3387C= (n.*3387C=)
c.*3692C= (n.*3692C=)
c.*3423C= (n.*3423C=)
c.3024C= (p.Ser1008=)
c.2320C=
c.3375C= (p.Ser1125=)
c.2354C=
c.1309C=
n.2659C=
n.386C=
n.123C=
n.3482C=
c.3492C= (p.Ser1164=)
c.3471C= (p.Ser1157=)
c.3453C= (p.Ser1151=)
c.3435C= (p.Ser1145=)
c.3396C= (p.Ser1132=)
c.3357C= (p.Ser1119=)
c.3081C= (p.Ser1027=)
c.3042C= (p.Ser1014=)
c.3432C= (p.Ser1144=)
c.3339C= (p.Ser1113=)
c.2814C= (p.Ser938=)
c.3129C= (p.Ser1043=)
n.7701C=
3g.9473358C>GCA432365777SETD5n.1788C>G
c.3414C>G (p.Ser1138=)
n.3822C>G
n.887C>G
n.4393C>G
n.4749C>G
c.3318C>G (p.Ser1106=)
c.*3464C>G (n.*3464C>G)
c.*3387C>G (n.*3387C>G)
c.*3692C>G (n.*3692C>G)
c.*3423C>G (n.*3423C>G)
c.3024C>G (p.Ser1008=)
c.2320C>G
c.3375C>G (p.Ser1125=)
c.2354C>G
c.1309C>G
n.2659C>G
n.386C>G
n.123C>G
n.3482C>G
c.3492C>G (p.Ser1164=)
c.3471C>G (p.Ser1157=)
c.3453C>G (p.Ser1151=)
c.3435C>G (p.Ser1145=)
c.3396C>G (p.Ser1132=)
c.3357C>G (p.Ser1119=)
c.3081C>G (p.Ser1027=)
c.3042C>G (p.Ser1014=)
c.3432C>G (p.Ser1144=)
c.3339C>G (p.Ser1113=)
c.2814C>G (p.Ser938=)
c.3129C>G (p.Ser1043=)
n.7701C>G
3g.9473358C>TCA2239662SETD5n.1788C>T
c.3414C>T (p.Ser1138=)
n.3822C>T
n.887C>T
n.4393C>T
n.4749C>T
c.3318C>T (p.Ser1106=)
c.*3464C>T (n.*3464C>T)
c.*3387C>T (n.*3387C>T)
c.*3692C>T (n.*3692C>T)
c.*3423C>T (n.*3423C>T)
c.3024C>T (p.Ser1008=)
c.2320C>T
c.3375C>T (p.Ser1125=)
c.2354C>T
c.1309C>T
n.2659C>T
n.386C>T
n.123C>T
n.3482C>T
c.3492C>T (p.Ser1164=)
c.3471C>T (p.Ser1157=)
c.3453C>T (p.Ser1151=)
c.3435C>T (p.Ser1145=)
c.3396C>T (p.Ser1132=)
c.3357C>T (p.Ser1119=)
c.3081C>T (p.Ser1027=)
c.3042C>T (p.Ser1014=)
c.3432C>T (p.Ser1144=)
c.3339C>T (p.Ser1113=)
c.2814C>T (p.Ser938=)
c.3129C>T (p.Ser1043=)
n.7701C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.9473359G>ACA2239663SETD5n.1789G>A
c.3415G>A (p.Val1139Ile)
n.3823G>A
n.888G>A
n.4394G>A
n.4750G>A
c.3319G>A (p.Val1107Ile)
c.*3465G>A (n.*3465G>A)
c.*3388G>A (n.*3388G>A)
c.*3693G>A (n.*3693G>A)
c.*3424G>A (n.*3424G>A)
c.3025G>A (p.Val1009Ile)
c.2321G>A
c.3376G>A (p.Val1126Ile)
c.2355G>A
c.1310G>A
n.2660G>A
n.387G>A
n.124G>A
n.3483G>A
c.3493G>A (p.Val1165Ile)
c.3472G>A (p.Val1158Ile)
c.3454G>A (p.Val1152Ile)
c.3436G>A (p.Val1146Ile)
c.3397G>A (p.Val1133Ile)
c.3358G>A (p.Val1120Ile)
c.3082G>A (p.Val1028Ile)
c.3043G>A (p.Val1015Ile)
c.3433G>A (p.Val1145Ile)
c.3340G>A (p.Val1114Ile)
c.2815G>A (p.Val939Ile)
c.3130G>A (p.Val1044Ile)
n.7702G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9473359G>CCA351685693SETD5n.1789G>C
c.3415G>C (p.Val1139Leu)
n.3823G>C
n.888G>C
n.4394G>C
n.4750G>C
c.3319G>C (p.Val1107Leu)
c.*3465G>C (n.*3465G>C)
c.*3388G>C (n.*3388G>C)
c.*3693G>C (n.*3693G>C)
c.*3424G>C (n.*3424G>C)
c.3025G>C (p.Val1009Leu)
c.2321G>C
c.3376G>C (p.Val1126Leu)
c.2355G>C
c.1310G>C
n.2660G>C
n.387G>C
n.124G>C
n.3483G>C
c.3493G>C (p.Val1165Leu)
c.3472G>C (p.Val1158Leu)
c.3454G>C (p.Val1152Leu)
c.3436G>C (p.Val1146Leu)
c.3397G>C (p.Val1133Leu)
c.3358G>C (p.Val1120Leu)
c.3082G>C (p.Val1028Leu)
c.3043G>C (p.Val1015Leu)
c.3433G>C (p.Val1145Leu)
c.3340G>C (p.Val1114Leu)
c.2815G>C (p.Val939Leu)
c.3130G>C (p.Val1044Leu)
n.7702G>C
3g.9473359G=CA1344740180SETD5n.1789G=
c.3415G= (p.Val1139=)
n.3823G=
n.888G=
n.4394G=
n.4750G=
c.3319G= (p.Val1107=)
c.*3465G= (n.*3465G=)
c.*3388G= (n.*3388G=)
c.*3693G= (n.*3693G=)
c.*3424G= (n.*3424G=)
c.3025G= (p.Val1009=)
c.2321G=
c.3376G= (p.Val1126=)
c.2355G=
c.1310G=
n.2660G=
n.387G=
n.124G=
n.3483G=
c.3493G= (p.Val1165=)
c.3472G= (p.Val1158=)
c.3454G= (p.Val1152=)
c.3436G= (p.Val1146=)
c.3397G= (p.Val1133=)
c.3358G= (p.Val1120=)
c.3082G= (p.Val1028=)
c.3043G= (p.Val1015=)
c.3433G= (p.Val1145=)
c.3340G= (p.Val1114=)
c.2815G= (p.Val939=)
c.3130G= (p.Val1044=)
n.7702G=
3g.9473359G>TCA351685696SETD5n.1789G>T
c.3415G>T (p.Val1139Phe)
n.3823G>T
n.888G>T
n.4394G>T
n.4750G>T
c.3319G>T (p.Val1107Phe)
c.*3465G>T (n.*3465G>T)
c.*3388G>T (n.*3388G>T)
c.*3693G>T (n.*3693G>T)
c.*3424G>T (n.*3424G>T)
c.3025G>T (p.Val1009Phe)
c.2321G>T
c.3376G>T (p.Val1126Phe)
c.2355G>T
c.1310G>T
n.2660G>T
n.387G>T
n.124G>T
n.3483G>T
c.3493G>T (p.Val1165Phe)
c.3472G>T (p.Val1158Phe)
c.3454G>T (p.Val1152Phe)
c.3436G>T (p.Val1146Phe)
c.3397G>T (p.Val1133Phe)
c.3358G>T (p.Val1120Phe)
c.3082G>T (p.Val1028Phe)
c.3043G>T (p.Val1015Phe)
c.3433G>T (p.Val1145Phe)
c.3340G>T (p.Val1114Phe)
c.2815G>T (p.Val939Phe)
c.3130G>T (p.Val1044Phe)
n.7702G>T
 dbSNP gnomAD v2 gnomAD v4
3g.9473360T>ACA351685708SETD5n.1790T>A
c.3416T>A (p.Val1139Asp)
n.3824T>A
n.889T>A
n.4395T>A
n.4751T>A
c.3320T>A (p.Val1107Asp)
c.*3466T>A (n.*3466T>A)
c.*3389T>A (n.*3389T>A)
c.*3694T>A (n.*3694T>A)
c.*3425T>A (n.*3425T>A)
c.3026T>A (p.Val1009Asp)
c.2322T>A
c.3377T>A (p.Val1126Asp)
c.2356T>A
c.1311T>A
n.2661T>A
n.388T>A
n.125T>A
n.3484T>A
c.3494T>A (p.Val1165Asp)
c.3473T>A (p.Val1158Asp)
c.3455T>A (p.Val1152Asp)
c.3437T>A (p.Val1146Asp)
c.3398T>A (p.Val1133Asp)
c.3359T>A (p.Val1120Asp)
c.3083T>A (p.Val1028Asp)
c.3044T>A (p.Val1015Asp)
c.3434T>A (p.Val1145Asp)
c.3341T>A (p.Val1114Asp)
c.2816T>A (p.Val939Asp)
c.3131T>A (p.Val1044Asp)
n.7703T>A
3g.9473360T>CCA351685702SETD5n.1790T>C
c.3416T>C (p.Val1139Ala)
n.3824T>C
n.889T>C
n.4395T>C
n.4751T>C
c.3320T>C (p.Val1107Ala)
c.*3466T>C (n.*3466T>C)
c.*3389T>C (n.*3389T>C)
c.*3694T>C (n.*3694T>C)
c.*3425T>C (n.*3425T>C)
c.3026T>C (p.Val1009Ala)
c.2322T>C
c.3377T>C (p.Val1126Ala)
c.2356T>C
c.1311T>C
n.2661T>C
n.388T>C
n.125T>C
n.3484T>C
c.3494T>C (p.Val1165Ala)
c.3473T>C (p.Val1158Ala)
c.3455T>C (p.Val1152Ala)
c.3437T>C (p.Val1146Ala)
c.3398T>C (p.Val1133Ala)
c.3359T>C (p.Val1120Ala)
c.3083T>C (p.Val1028Ala)
c.3044T>C (p.Val1015Ala)
c.3434T>C (p.Val1145Ala)
c.3341T>C (p.Val1114Ala)
c.2816T>C (p.Val939Ala)
c.3131T>C (p.Val1044Ala)
n.7703T>C
3g.9473360T>GCA351685705SETD5n.1790T>G
c.3416T>G (p.Val1139Gly)
n.3824T>G
n.889T>G
n.4395T>G
n.4751T>G
c.3320T>G (p.Val1107Gly)
c.*3466T>G (n.*3466T>G)
c.*3389T>G (n.*3389T>G)
c.*3694T>G (n.*3694T>G)
c.*3425T>G (n.*3425T>G)
c.3026T>G (p.Val1009Gly)
c.2322T>G
c.3377T>G (p.Val1126Gly)
c.2356T>G
c.1311T>G
n.2661T>G
n.388T>G
n.125T>G
n.3484T>G
c.3494T>G (p.Val1165Gly)
c.3473T>G (p.Val1158Gly)
c.3455T>G (p.Val1152Gly)
c.3437T>G (p.Val1146Gly)
c.3398T>G (p.Val1133Gly)
c.3359T>G (p.Val1120Gly)
c.3083T>G (p.Val1028Gly)
c.3044T>G (p.Val1015Gly)
c.3434T>G (p.Val1145Gly)
c.3341T>G (p.Val1114Gly)
c.2816T>G (p.Val939Gly)
c.3131T>G (p.Val1044Gly)
n.7703T>G
3g.9473361T>ACA432365778SETD5n.1791T>A
c.3417T>A (p.Val1139=)
n.3825T>A
n.890T>A
n.4396T>A
n.4752T>A
c.3321T>A (p.Val1107=)
c.*3467T>A (n.*3467T>A)
c.*3390T>A (n.*3390T>A)
c.*3695T>A (n.*3695T>A)
c.*3426T>A (n.*3426T>A)
c.3027T>A (p.Val1009=)
c.2323T>A
c.3378T>A (p.Val1126=)
c.2357T>A
c.1312T>A
n.2662T>A
n.389T>A
n.126T>A
n.3485T>A
c.3495T>A (p.Val1165=)
c.3474T>A (p.Val1158=)
c.3456T>A (p.Val1152=)
c.3438T>A (p.Val1146=)
c.3399T>A (p.Val1133=)
c.3360T>A (p.Val1120=)
c.3084T>A (p.Val1028=)
c.3045T>A (p.Val1015=)
c.3435T>A (p.Val1145=)
c.3342T>A (p.Val1114=)
c.2817T>A (p.Val939=)
c.3132T>A (p.Val1044=)
n.7704T>A
3g.9473361T>CCA432365779SETD5n.1791T>C
c.3417T>C (p.Val1139=)
n.3825T>C
n.890T>C
n.4396T>C
n.4752T>C
c.3321T>C (p.Val1107=)
c.*3467T>C (n.*3467T>C)
c.*3390T>C (n.*3390T>C)
c.*3695T>C (n.*3695T>C)
c.*3426T>C (n.*3426T>C)
c.3027T>C (p.Val1009=)
c.2323T>C
c.3378T>C (p.Val1126=)
c.2357T>C
c.1312T>C
n.2662T>C
n.389T>C
n.126T>C
n.3485T>C
c.3495T>C (p.Val1165=)
c.3474T>C (p.Val1158=)
c.3456T>C (p.Val1152=)
c.3438T>C (p.Val1146=)
c.3399T>C (p.Val1133=)
c.3360T>C (p.Val1120=)
c.3084T>C (p.Val1028=)
c.3045T>C (p.Val1015=)
c.3435T>C (p.Val1145=)
c.3342T>C (p.Val1114=)
c.2817T>C (p.Val939=)
c.3132T>C (p.Val1044=)
n.7704T>C
3g.9473361T>GCA432365780SETD5n.1791T>G
c.3417T>G (p.Val1139=)
n.3825T>G
n.890T>G
n.4396T>G
n.4752T>G
c.3321T>G (p.Val1107=)
c.*3467T>G (n.*3467T>G)
c.*3390T>G (n.*3390T>G)
c.*3695T>G (n.*3695T>G)
c.*3426T>G (n.*3426T>G)
c.3027T>G (p.Val1009=)
c.2323T>G
c.3378T>G (p.Val1126=)
c.2357T>G
c.1312T>G
n.2662T>G
n.389T>G
n.126T>G
n.3485T>G
c.3495T>G (p.Val1165=)
c.3474T>G (p.Val1158=)
c.3456T>G (p.Val1152=)
c.3438T>G (p.Val1146=)
c.3399T>G (p.Val1133=)
c.3360T>G (p.Val1120=)
c.3084T>G (p.Val1028=)
c.3045T>G (p.Val1015=)
c.3435T>G (p.Val1145=)
c.3342T>G (p.Val1114=)
c.2817T>G (p.Val939=)
c.3132T>G (p.Val1044=)
n.7704T>G
3g.9473362T>ACA351685711SETD5n.1792T>A
c.3418T>A (p.Ser1140Thr)
n.3826T>A
n.891T>A
n.4397T>A
n.4753T>A
c.3322T>A (p.Ser1108Thr)
c.*3468T>A (n.*3468T>A)
c.*3391T>A (n.*3391T>A)
c.*3696T>A (n.*3696T>A)
c.*3427T>A (n.*3427T>A)
c.3028T>A (p.Ser1010Thr)
c.2324T>A
c.3379T>A (p.Ser1127Thr)
c.2358T>A
c.1313T>A
n.2663T>A
n.390T>A
n.127T>A
n.3486T>A
c.3496T>A (p.Ser1166Thr)
c.3475T>A (p.Ser1159Thr)
c.3457T>A (p.Ser1153Thr)
c.3439T>A (p.Ser1147Thr)
c.3400T>A (p.Ser1134Thr)
c.3361T>A (p.Ser1121Thr)
c.3085T>A (p.Ser1029Thr)
c.3046T>A (p.Ser1016Thr)
c.3436T>A (p.Ser1146Thr)
c.3343T>A (p.Ser1115Thr)
c.2818T>A (p.Ser940Thr)
c.3133T>A (p.Ser1045Thr)
n.7705T>A
 dbSNP gnomAD v3 gnomAD v4
3g.9473362T>CCA351685715SETD5n.1792T>C
c.3418T>C (p.Ser1140Pro)
n.3826T>C
n.891T>C
n.4397T>C
n.4753T>C
c.3322T>C (p.Ser1108Pro)
c.*3468T>C (n.*3468T>C)
c.*3391T>C (n.*3391T>C)
c.*3696T>C (n.*3696T>C)
c.*3427T>C (n.*3427T>C)
c.3028T>C (p.Ser1010Pro)
c.2324T>C
c.3379T>C (p.Ser1127Pro)
c.2358T>C
c.1313T>C
n.2663T>C
n.390T>C
n.127T>C
n.3486T>C
c.3496T>C (p.Ser1166Pro)
c.3475T>C (p.Ser1159Pro)
c.3457T>C (p.Ser1153Pro)
c.3439T>C (p.Ser1147Pro)
c.3400T>C (p.Ser1134Pro)
c.3361T>C (p.Ser1121Pro)
c.3085T>C (p.Ser1029Pro)
c.3046T>C (p.Ser1016Pro)
c.3436T>C (p.Ser1146Pro)
c.3343T>C (p.Ser1115Pro)
c.2818T>C (p.Ser940Pro)
c.3133T>C (p.Ser1045Pro)
n.7705T>C
3g.9473362T>GCA351685721SETD5n.1792T>G
c.3418T>G (p.Ser1140Ala)
n.3826T>G
n.891T>G
n.4397T>G
n.4753T>G
c.3322T>G (p.Ser1108Ala)
c.*3468T>G (n.*3468T>G)
c.*3391T>G (n.*3391T>G)
c.*3696T>G (n.*3696T>G)
c.*3427T>G (n.*3427T>G)
c.3028T>G (p.Ser1010Ala)
c.2324T>G
c.3379T>G (p.Ser1127Ala)
c.2358T>G
c.1313T>G
n.2663T>G
n.390T>G
n.127T>G
n.3486T>G
c.3496T>G (p.Ser1166Ala)
c.3475T>G (p.Ser1159Ala)
c.3457T>G (p.Ser1153Ala)
c.3439T>G (p.Ser1147Ala)
c.3400T>G (p.Ser1134Ala)
c.3361T>G (p.Ser1121Ala)
c.3085T>G (p.Ser1029Ala)
c.3046T>G (p.Ser1016Ala)
c.3436T>G (p.Ser1146Ala)
c.3343T>G (p.Ser1115Ala)
c.2818T>G (p.Ser940Ala)
c.3133T>G (p.Ser1045Ala)
n.7705T>G
3g.9473362T=CA1344740183SETD5n.1792T=
c.3418T= (p.Ser1140=)
n.3826T=
n.891T=
n.4397T=
n.4753T=
c.3322T= (p.Ser1108=)
c.*3468T= (n.*3468T=)
c.*3391T= (n.*3391T=)
c.*3696T= (n.*3696T=)
c.*3427T= (n.*3427T=)
c.3028T= (p.Ser1010=)
c.2324T=
c.3379T= (p.Ser1127=)
c.2358T=
c.1313T=
n.2663T=
n.390T=
n.127T=
n.3486T=
c.3496T= (p.Ser1166=)
c.3475T= (p.Ser1159=)
c.3457T= (p.Ser1153=)
c.3439T= (p.Ser1147=)
c.3400T= (p.Ser1134=)
c.3361T= (p.Ser1121=)
c.3085T= (p.Ser1029=)
c.3046T= (p.Ser1016=)
c.3436T= (p.Ser1146=)
c.3343T= (p.Ser1115=)
c.2818T= (p.Ser940=)
c.3133T= (p.Ser1045=)
n.7705T=
3g.9473363C>ACA351685725SETD5n.1793C>A
c.3419C>A (p.Ser1140Tyr)
n.3827C>A
n.892C>A
n.4398C>A
n.4754C>A
c.3323C>A (p.Ser1108Tyr)
c.*3469C>A (n.*3469C>A)
c.*3392C>A (n.*3392C>A)
c.*3697C>A (n.*3697C>A)
c.*3428C>A (n.*3428C>A)
c.3029C>A (p.Ser1010Tyr)
c.2325C>A
c.3380C>A (p.Ser1127Tyr)
c.2359C>A
c.1314C>A
n.2664C>A
n.391C>A
n.128C>A
n.3487C>A
c.3497C>A (p.Ser1166Tyr)
c.3476C>A (p.Ser1159Tyr)
c.3458C>A (p.Ser1153Tyr)
c.3440C>A (p.Ser1147Tyr)
c.3401C>A (p.Ser1134Tyr)
c.3362C>A (p.Ser1121Tyr)
c.3086C>A (p.Ser1029Tyr)
c.3047C>A (p.Ser1016Tyr)
c.3437C>A (p.Ser1146Tyr)
c.3344C>A (p.Ser1115Tyr)
c.2819C>A (p.Ser940Tyr)
c.3134C>A (p.Ser1045Tyr)
n.7706C>A
3g.9473363C>GCA351685728SETD5n.1793C>G
c.3419C>G (p.Ser1140Cys)
n.3827C>G
n.892C>G
n.4398C>G
n.4754C>G
c.3323C>G (p.Ser1108Cys)
c.*3469C>G (n.*3469C>G)
c.*3392C>G (n.*3392C>G)
c.*3697C>G (n.*3697C>G)
c.*3428C>G (n.*3428C>G)
c.3029C>G (p.Ser1010Cys)
c.2325C>G
c.3380C>G (p.Ser1127Cys)
c.2359C>G
c.1314C>G
n.2664C>G
n.391C>G
n.128C>G
n.3487C>G
c.3497C>G (p.Ser1166Cys)
c.3476C>G (p.Ser1159Cys)
c.3458C>G (p.Ser1153Cys)
c.3440C>G (p.Ser1147Cys)
c.3401C>G (p.Ser1134Cys)
c.3362C>G (p.Ser1121Cys)
c.3086C>G (p.Ser1029Cys)
c.3047C>G (p.Ser1016Cys)
c.3437C>G (p.Ser1146Cys)
c.3344C>G (p.Ser1115Cys)
c.2819C>G (p.Ser940Cys)
c.3134C>G (p.Ser1045Cys)
n.7706C>G
3g.9473363C>TCA351685731SETD5n.1793C>T
c.3419C>T (p.Ser1140Phe)
n.3827C>T
n.892C>T
n.4398C>T
n.4754C>T
c.3323C>T (p.Ser1108Phe)
c.*3469C>T (n.*3469C>T)
c.*3392C>T (n.*3392C>T)
c.*3697C>T (n.*3697C>T)
c.*3428C>T (n.*3428C>T)
c.3029C>T (p.Ser1010Phe)
c.2325C>T
c.3380C>T (p.Ser1127Phe)
c.2359C>T
c.1314C>T
n.2664C>T
n.391C>T
n.128C>T
n.3487C>T
c.3497C>T (p.Ser1166Phe)
c.3476C>T (p.Ser1159Phe)
c.3458C>T (p.Ser1153Phe)
c.3440C>T (p.Ser1147Phe)
c.3401C>T (p.Ser1134Phe)
c.3362C>T (p.Ser1121Phe)
c.3086C>T (p.Ser1029Phe)
c.3047C>T (p.Ser1016Phe)
c.3437C>T (p.Ser1146Phe)
c.3344C>T (p.Ser1115Phe)
c.2819C>T (p.Ser940Phe)
c.3134C>T (p.Ser1045Phe)
n.7706C>T
3g.9473364C>ACA432365782SETD5n.1794C>A
c.3420C>A (p.Ser1140=)
n.3828C>A
n.893C>A
n.4399C>A
n.4755C>A
c.3324C>A (p.Ser1108=)
c.*3470C>A (n.*3470C>A)
c.*3393C>A (n.*3393C>A)
c.*3698C>A (n.*3698C>A)
c.*3429C>A (n.*3429C>A)
c.3030C>A (p.Ser1010=)
c.2326C>A
c.3381C>A (p.Ser1127=)
c.2360C>A
c.1315C>A
n.2665C>A
n.392C>A
n.129C>A
n.3488C>A
c.3498C>A (p.Ser1166=)
c.3477C>A (p.Ser1159=)
c.3459C>A (p.Ser1153=)
c.3441C>A (p.Ser1147=)
c.3402C>A (p.Ser1134=)
c.3363C>A (p.Ser1121=)
c.3087C>A (p.Ser1029=)
c.3048C>A (p.Ser1016=)
c.3438C>A (p.Ser1146=)
c.3345C>A (p.Ser1115=)
c.2820C>A (p.Ser940=)
c.3135C>A (p.Ser1045=)
n.7707C>A
3g.9473364C=CA1344740188SETD5n.1794C=
c.3420C= (p.Ser1140=)
n.3828C=
n.893C=
n.4399C=
n.4755C=
c.3324C= (p.Ser1108=)
c.*3470C= (n.*3470C=)
c.*3393C= (n.*3393C=)
c.*3698C= (n.*3698C=)
c.*3429C= (n.*3429C=)
c.3030C= (p.Ser1010=)
c.2326C=
c.3381C= (p.Ser1127=)
c.2360C=
c.1315C=
n.2665C=
n.392C=
n.129C=
n.3488C=
c.3498C= (p.Ser1166=)
c.3477C= (p.Ser1159=)
c.3459C= (p.Ser1153=)
c.3441C= (p.Ser1147=)
c.3402C= (p.Ser1134=)
c.3363C= (p.Ser1121=)
c.3087C= (p.Ser1029=)
c.3048C= (p.Ser1016=)
c.3438C= (p.Ser1146=)
c.3345C= (p.Ser1115=)
c.2820C= (p.Ser940=)
c.3135C= (p.Ser1045=)
n.7707C=
3g.9473364C>GCA432365783SETD5n.1794C>G
c.3420C>G (p.Ser1140=)
n.3828C>G
n.893C>G
n.4399C>G
n.4755C>G
c.3324C>G (p.Ser1108=)
c.*3470C>G (n.*3470C>G)
c.*3393C>G (n.*3393C>G)
c.*3698C>G (n.*3698C>G)
c.*3429C>G (n.*3429C>G)
c.3030C>G (p.Ser1010=)
c.2326C>G
c.3381C>G (p.Ser1127=)
c.2360C>G
c.1315C>G
n.2665C>G
n.392C>G
n.129C>G
n.3488C>G
c.3498C>G (p.Ser1166=)
c.3477C>G (p.Ser1159=)
c.3459C>G (p.Ser1153=)
c.3441C>G (p.Ser1147=)
c.3402C>G (p.Ser1134=)
c.3363C>G (p.Ser1121=)
c.3087C>G (p.Ser1029=)
c.3048C>G (p.Ser1016=)
c.3438C>G (p.Ser1146=)
c.3345C>G (p.Ser1115=)
c.2820C>G (p.Ser940=)
c.3135C>G (p.Ser1045=)
n.7707C>G
3g.9473364C>TCA2239664SETD5n.1794C>T
c.3420C>T (p.Ser1140=)
n.3828C>T
n.893C>T
n.4399C>T
n.4755C>T
c.3324C>T (p.Ser1108=)
c.*3470C>T (n.*3470C>T)
c.*3393C>T (n.*3393C>T)
c.*3698C>T (n.*3698C>T)
c.*3429C>T (n.*3429C>T)
c.3030C>T (p.Ser1010=)
c.2326C>T
c.3381C>T (p.Ser1127=)
c.2360C>T
c.1315C>T
n.2665C>T
n.392C>T
n.129C>T
n.3488C>T
c.3498C>T (p.Ser1166=)
c.3477C>T (p.Ser1159=)
c.3459C>T (p.Ser1153=)
c.3441C>T (p.Ser1147=)
c.3402C>T (p.Ser1134=)
c.3363C>T (p.Ser1121=)
c.3087C>T (p.Ser1029=)
c.3048C>T (p.Ser1016=)
c.3438C>T (p.Ser1146=)
c.3345C>T (p.Ser1115=)
c.2820C>T (p.Ser940=)
c.3135C>T (p.Ser1045=)
n.7707C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9473365G>ACA2239665SETD5n.1795G>A
c.3421G>A (p.Asp1141Asn)
n.3829G>A
n.894G>A
n.4400G>A
n.4756G>A
c.3325G>A (p.Asp1109Asn)
c.*3471G>A (n.*3471G>A)
c.*3394G>A (n.*3394G>A)
c.*3699G>A (n.*3699G>A)
c.*3430G>A (n.*3430G>A)
c.3031G>A (p.Asp1011Asn)
c.2327G>A
c.3382G>A (p.Asp1128Asn)
c.2361G>A
c.1316G>A
n.2666G>A
n.393G>A
n.130G>A
n.3489G>A
c.3499G>A (p.Asp1167Asn)
c.3478G>A (p.Asp1160Asn)
c.3460G>A (p.Asp1154Asn)
c.3442G>A (p.Asp1148Asn)
c.3403G>A (p.Asp1135Asn)
c.3364G>A (p.Asp1122Asn)
c.3088G>A (p.Asp1030Asn)
c.3049G>A (p.Asp1017Asn)
c.3439G>A (p.Asp1147Asn)
c.3346G>A (p.Asp1116Asn)
c.2821G>A (p.Asp941Asn)
c.3136G>A (p.Asp1046Asn)
n.7708G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9473365G>CCA351685736SETD5n.1795G>C
c.3421G>C (p.Asp1141His)
n.3829G>C
n.894G>C
n.4400G>C
n.4756G>C
c.3325G>C (p.Asp1109His)
c.*3471G>C (n.*3471G>C)
c.*3394G>C (n.*3394G>C)
c.*3699G>C (n.*3699G>C)
c.*3430G>C (n.*3430G>C)
c.3031G>C (p.Asp1011His)
c.2327G>C
c.3382G>C (p.Asp1128His)
c.2361G>C
c.1316G>C
n.2666G>C
n.393G>C
n.130G>C
n.3489G>C
c.3499G>C (p.Asp1167His)
c.3478G>C (p.Asp1160His)
c.3460G>C (p.Asp1154His)
c.3442G>C (p.Asp1148His)
c.3403G>C (p.Asp1135His)
c.3364G>C (p.Asp1122His)
c.3088G>C (p.Asp1030His)
c.3049G>C (p.Asp1017His)
c.3439G>C (p.Asp1147His)
c.3346G>C (p.Asp1116His)
c.2821G>C (p.Asp941His)
c.3136G>C (p.Asp1046His)
n.7708G>C
3g.9473365G=CA1344740197SETD5n.1795G=
c.3421G= (p.Asp1141=)
n.3829G=
n.894G=
n.4400G=
n.4756G=
c.3325G= (p.Asp1109=)
c.*3471G= (n.*3471G=)
c.*3394G= (n.*3394G=)
c.*3699G= (n.*3699G=)
c.*3430G= (n.*3430G=)
c.3031G= (p.Asp1011=)
c.2327G=
c.3382G= (p.Asp1128=)
c.2361G=
c.1316G=
n.2666G=
n.393G=
n.130G=
n.3489G=
c.3499G= (p.Asp1167=)
c.3478G= (p.Asp1160=)
c.3460G= (p.Asp1154=)
c.3442G= (p.Asp1148=)
c.3403G= (p.Asp1135=)
c.3364G= (p.Asp1122=)
c.3088G= (p.Asp1030=)
c.3049G= (p.Asp1017=)
c.3439G= (p.Asp1147=)
c.3346G= (p.Asp1116=)
c.2821G= (p.Asp941=)
c.3136G= (p.Asp1046=)
n.7708G=
3g.9473365G>TCA351685741SETD5n.1795G>T
c.3421G>T (p.Asp1141Tyr)
n.3829G>T
n.894G>T
n.4400G>T
n.4756G>T
c.3325G>T (p.Asp1109Tyr)
c.*3471G>T (n.*3471G>T)
c.*3394G>T (n.*3394G>T)
c.*3699G>T (n.*3699G>T)
c.*3430G>T (n.*3430G>T)
c.3031G>T (p.Asp1011Tyr)
c.2327G>T
c.3382G>T (p.Asp1128Tyr)
c.2361G>T
c.1316G>T
n.2666G>T
n.393G>T
n.130G>T
n.3489G>T
c.3499G>T (p.Asp1167Tyr)
c.3478G>T (p.Asp1160Tyr)
c.3460G>T (p.Asp1154Tyr)
c.3442G>T (p.Asp1148Tyr)
c.3403G>T (p.Asp1135Tyr)
c.3364G>T (p.Asp1122Tyr)
c.3088G>T (p.Asp1030Tyr)
c.3049G>T (p.Asp1017Tyr)
c.3439G>T (p.Asp1147Tyr)
c.3346G>T (p.Asp1116Tyr)
c.2821G>T (p.Asp941Tyr)
c.3136G>T (p.Asp1046Tyr)
n.7708G>T
3g.9473366A=CA1344740200SETD5n.1796A=
c.3422A= (p.Asp1141=)
n.3830A=
n.895A=
n.4401A=
n.4757A=
c.3326A= (p.Asp1109=)
c.*3472A= (n.*3472A=)
c.*3395A= (n.*3395A=)
c.*3700A= (n.*3700A=)
c.*3431A= (n.*3431A=)
c.3032A= (p.Asp1011=)
c.2328A=
c.3383A= (p.Asp1128=)
c.2362A=
c.1317A=
n.2667A=
n.394A=
n.131A=
n.3490A=
c.3500A= (p.Asp1167=)
c.3479A= (p.Asp1160=)
c.3461A= (p.Asp1154=)
c.3443A= (p.Asp1148=)
c.3404A= (p.Asp1135=)
c.3365A= (p.Asp1122=)
c.3089A= (p.Asp1030=)
c.3050A= (p.Asp1017=)
c.3440A= (p.Asp1147=)
c.3347A= (p.Asp1116=)
c.2822A= (p.Asp941=)
c.3137A= (p.Asp1046=)
n.7709A=
3g.9473366A>CCA351685744SETD5n.1796A>C
c.3422A>C (p.Asp1141Ala)
n.3830A>C
n.895A>C
n.4401A>C
n.4757A>C
c.3326A>C (p.Asp1109Ala)
c.*3472A>C (n.*3472A>C)
c.*3395A>C (n.*3395A>C)
c.*3700A>C (n.*3700A>C)
c.*3431A>C (n.*3431A>C)
c.3032A>C (p.Asp1011Ala)
c.2328A>C
c.3383A>C (p.Asp1128Ala)
c.2362A>C
c.1317A>C
n.2667A>C
n.394A>C
n.131A>C
n.3490A>C
c.3500A>C (p.Asp1167Ala)
c.3479A>C (p.Asp1160Ala)
c.3461A>C (p.Asp1154Ala)
c.3443A>C (p.Asp1148Ala)
c.3404A>C (p.Asp1135Ala)
c.3365A>C (p.Asp1122Ala)
c.3089A>C (p.Asp1030Ala)
c.3050A>C (p.Asp1017Ala)
c.3440A>C (p.Asp1147Ala)
c.3347A>C (p.Asp1116Ala)
c.2822A>C (p.Asp941Ala)
c.3137A>C (p.Asp1046Ala)
n.7709A>C
3g.9473366A>GCA351685747SETD5n.1796A>G
c.3422A>G (p.Asp1141Gly)
n.3830A>G
n.895A>G
n.4401A>G
n.4757A>G
c.3326A>G (p.Asp1109Gly)
c.*3472A>G (n.*3472A>G)
c.*3395A>G (n.*3395A>G)
c.*3700A>G (n.*3700A>G)
c.*3431A>G (n.*3431A>G)
c.3032A>G (p.Asp1011Gly)
c.2328A>G
c.3383A>G (p.Asp1128Gly)
c.2362A>G
c.1317A>G
n.2667A>G
n.394A>G
n.131A>G
n.3490A>G
c.3500A>G (p.Asp1167Gly)
c.3479A>G (p.Asp1160Gly)
c.3461A>G (p.Asp1154Gly)
c.3443A>G (p.Asp1148Gly)
c.3404A>G (p.Asp1135Gly)
c.3365A>G (p.Asp1122Gly)
c.3089A>G (p.Asp1030Gly)
c.3050A>G (p.Asp1017Gly)
c.3440A>G (p.Asp1147Gly)
c.3347A>G (p.Asp1116Gly)
c.2822A>G (p.Asp941Gly)
c.3137A>G (p.Asp1046Gly)
n.7709A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.9473366A>TCA351685750SETD5n.1796A>T
c.3422A>T (p.Asp1141Val)
n.3830A>T
n.895A>T
n.4401A>T
n.4757A>T
c.3326A>T (p.Asp1109Val)
c.*3472A>T (n.*3472A>T)
c.*3395A>T (n.*3395A>T)
c.*3700A>T (n.*3700A>T)
c.*3431A>T (n.*3431A>T)
c.3032A>T (p.Asp1011Val)
c.2328A>T
c.3383A>T (p.Asp1128Val)
c.2362A>T
c.1317A>T
n.2667A>T
n.394A>T
n.131A>T
n.3490A>T
c.3500A>T (p.Asp1167Val)
c.3479A>T (p.Asp1160Val)
c.3461A>T (p.Asp1154Val)
c.3443A>T (p.Asp1148Val)
c.3404A>T (p.Asp1135Val)
c.3365A>T (p.Asp1122Val)
c.3089A>T (p.Asp1030Val)
c.3050A>T (p.Asp1017Val)
c.3440A>T (p.Asp1147Val)
c.3347A>T (p.Asp1116Val)
c.2822A>T (p.Asp941Val)
c.3137A>T (p.Asp1046Val)
n.7709A>T
3g.9473367C>ACA2239666SETD5n.1797C>A
c.3423C>A (p.Asp1141Glu)
n.3831C>A
n.896C>A
n.4402C>A
n.4758C>A
c.3327C>A (p.Asp1109Glu)
c.*3473C>A (n.*3473C>A)
c.*3396C>A (n.*3396C>A)
c.*3701C>A (n.*3701C>A)
c.*3432C>A (n.*3432C>A)
c.3033C>A (p.Asp1011Glu)
c.2329C>A
c.3384C>A (p.Asp1128Glu)
c.2363C>A
c.1318C>A
n.2668C>A
n.395C>A
n.132C>A
n.3491C>A
c.3501C>A (p.Asp1167Glu)
c.3480C>A (p.Asp1160Glu)
c.3462C>A (p.Asp1154Glu)
c.3444C>A (p.Asp1148Glu)
c.3405C>A (p.Asp1135Glu)
c.3366C>A (p.Asp1122Glu)
c.3090C>A (p.Asp1030Glu)
c.3051C>A (p.Asp1017Glu)
c.3441C>A (p.Asp1147Glu)
c.3348C>A (p.Asp1116Glu)
c.2823C>A (p.Asp941Glu)
c.3138C>A (p.Asp1046Glu)
n.7710C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9473367C=CA1344740202SETD5n.1797C=
c.3423C= (p.Asp1141=)
n.3831C=
n.896C=
n.4402C=
n.4758C=
c.3327C= (p.Asp1109=)
c.*3473C= (n.*3473C=)
c.*3396C= (n.*3396C=)
c.*3701C= (n.*3701C=)
c.*3432C= (n.*3432C=)
c.3033C= (p.Asp1011=)
c.2329C=
c.3384C= (p.Asp1128=)
c.2363C=
c.1318C=
n.2668C=
n.395C=
n.132C=
n.3491C=
c.3501C= (p.Asp1167=)
c.3480C= (p.Asp1160=)
c.3462C= (p.Asp1154=)
c.3444C= (p.Asp1148=)
c.3405C= (p.Asp1135=)
c.3366C= (p.Asp1122=)
c.3090C= (p.Asp1030=)
c.3051C= (p.Asp1017=)
c.3441C= (p.Asp1147=)
c.3348C= (p.Asp1116=)
c.2823C= (p.Asp941=)
c.3138C= (p.Asp1046=)
n.7710C=
3g.9473367C>GCA351685757SETD5n.1797C>G
c.3423C>G (p.Asp1141Glu)
n.3831C>G
n.896C>G
n.4402C>G
n.4758C>G
c.3327C>G (p.Asp1109Glu)
c.*3473C>G (n.*3473C>G)
c.*3396C>G (n.*3396C>G)
c.*3701C>G (n.*3701C>G)
c.*3432C>G (n.*3432C>G)
c.3033C>G (p.Asp1011Glu)
c.2329C>G
c.3384C>G (p.Asp1128Glu)
c.2363C>G
c.1318C>G
n.2668C>G
n.395C>G
n.132C>G
n.3491C>G
c.3501C>G (p.Asp1167Glu)
c.3480C>G (p.Asp1160Glu)
c.3462C>G (p.Asp1154Glu)
c.3444C>G (p.Asp1148Glu)
c.3405C>G (p.Asp1135Glu)
c.3366C>G (p.Asp1122Glu)
c.3090C>G (p.Asp1030Glu)
c.3051C>G (p.Asp1017Glu)
c.3441C>G (p.Asp1147Glu)
c.3348C>G (p.Asp1116Glu)
c.2823C>G (p.Asp941Glu)
c.3138C>G (p.Asp1046Glu)
n.7710C>G
3g.9473367C>TCA432365785SETD5n.1797C>T
c.3423C>T (p.Asp1141=)
n.3831C>T
n.896C>T
n.4402C>T
n.4758C>T
c.3327C>T (p.Asp1109=)
c.*3473C>T (n.*3473C>T)
c.*3396C>T (n.*3396C>T)
c.*3701C>T (n.*3701C>T)
c.*3432C>T (n.*3432C>T)
c.3033C>T (p.Asp1011=)
c.2329C>T
c.3384C>T (p.Asp1128=)
c.2363C>T
c.1318C>T
n.2668C>T
n.395C>T
n.132C>T
n.3491C>T
c.3501C>T (p.Asp1167=)
c.3480C>T (p.Asp1160=)
c.3462C>T (p.Asp1154=)
c.3444C>T (p.Asp1148=)
c.3405C>T (p.Asp1135=)
c.3366C>T (p.Asp1122=)
c.3090C>T (p.Asp1030=)
c.3051C>T (p.Asp1017=)
c.3441C>T (p.Asp1147=)
c.3348C>T (p.Asp1116=)
c.2823C>T (p.Asp941=)
c.3138C>T (p.Asp1046=)
n.7710C>T
 dbSNP gnomAD v4
3g.9473368A>CCA351685760SETD5n.1798A>C
c.3424A>C (p.Thr1142Pro)
n.3832A>C
n.897A>C
n.4403A>C
n.4759A>C
c.3328A>C (p.Thr1110Pro)
c.*3474A>C (n.*3474A>C)
c.*3397A>C (n.*3397A>C)
c.*3702A>C (n.*3702A>C)
c.*3433A>C (n.*3433A>C)
c.3034A>C (p.Thr1012Pro)
c.2330A>C
c.3385A>C (p.Thr1129Pro)
c.2364A>C
c.1319A>C
n.2669A>C
n.396A>C
n.133A>C
n.3492A>C
c.3502A>C (p.Thr1168Pro)
c.3481A>C (p.Thr1161Pro)
c.3463A>C (p.Thr1155Pro)
c.3445A>C (p.Thr1149Pro)
c.3406A>C (p.Thr1136Pro)
c.3367A>C (p.Thr1123Pro)
c.3091A>C (p.Thr1031Pro)
c.3052A>C (p.Thr1018Pro)
c.3442A>C (p.Thr1148Pro)
c.3349A>C (p.Thr1117Pro)
c.2824A>C (p.Thr942Pro)
c.3139A>C (p.Thr1047Pro)
n.7711A>C
3g.9473368A>GCA351685761SETD5n.1798A>G
c.3424A>G (p.Thr1142Ala)
n.3832A>G
n.897A>G
n.4403A>G
n.4759A>G
c.3328A>G (p.Thr1110Ala)
c.*3474A>G (n.*3474A>G)
c.*3397A>G (n.*3397A>G)
c.*3702A>G (n.*3702A>G)
c.*3433A>G (n.*3433A>G)
c.3034A>G (p.Thr1012Ala)
c.2330A>G
c.3385A>G (p.Thr1129Ala)
c.2364A>G
c.1319A>G
n.2669A>G
n.396A>G
n.133A>G
n.3492A>G
c.3502A>G (p.Thr1168Ala)
c.3481A>G (p.Thr1161Ala)
c.3463A>G (p.Thr1155Ala)
c.3445A>G (p.Thr1149Ala)
c.3406A>G (p.Thr1136Ala)
c.3367A>G (p.Thr1123Ala)
c.3091A>G (p.Thr1031Ala)
c.3052A>G (p.Thr1018Ala)
c.3442A>G (p.Thr1148Ala)
c.3349A>G (p.Thr1117Ala)
c.2824A>G (p.Thr942Ala)
c.3139A>G (p.Thr1047Ala)
n.7711A>G
3g.9473368A>TCA351685762SETD5n.1798A>T
c.3424A>T (p.Thr1142Ser)
n.3832A>T
n.897A>T
n.4403A>T
n.4759A>T
c.3328A>T (p.Thr1110Ser)
c.*3474A>T (n.*3474A>T)
c.*3397A>T (n.*3397A>T)
c.*3702A>T (n.*3702A>T)
c.*3433A>T (n.*3433A>T)
c.3034A>T (p.Thr1012Ser)
c.2330A>T
c.3385A>T (p.Thr1129Ser)
c.2364A>T
c.1319A>T
n.2669A>T
n.396A>T
n.133A>T
n.3492A>T
c.3502A>T (p.Thr1168Ser)
c.3481A>T (p.Thr1161Ser)
c.3463A>T (p.Thr1155Ser)
c.3445A>T (p.Thr1149Ser)
c.3406A>T (p.Thr1136Ser)
c.3367A>T (p.Thr1123Ser)
c.3091A>T (p.Thr1031Ser)
c.3052A>T (p.Thr1018Ser)
c.3442A>T (p.Thr1148Ser)
c.3349A>T (p.Thr1117Ser)
c.2824A>T (p.Thr942Ser)
c.3139A>T (p.Thr1047Ser)
n.7711A>T
3g.9473369C>ACA351685765SETD5n.1799C>A
c.3425C>A (p.Thr1142Asn)
n.3833C>A
n.898C>A
n.4404C>A
n.4760C>A
c.3329C>A (p.Thr1110Asn)
c.*3475C>A (n.*3475C>A)
c.*3398C>A (n.*3398C>A)
c.*3703C>A (n.*3703C>A)
c.*3434C>A (n.*3434C>A)
c.3035C>A (p.Thr1012Asn)
c.2331C>A
c.3386C>A (p.Thr1129Asn)
c.2365C>A
c.1320C>A
n.2670C>A
n.397C>A
n.134C>A
n.3493C>A
c.3503C>A (p.Thr1168Asn)
c.3482C>A (p.Thr1161Asn)
c.3464C>A (p.Thr1155Asn)
c.3446C>A (p.Thr1149Asn)
c.3407C>A (p.Thr1136Asn)
c.3368C>A (p.Thr1123Asn)
c.3092C>A (p.Thr1031Asn)
c.3053C>A (p.Thr1018Asn)
c.3443C>A (p.Thr1148Asn)
c.3350C>A (p.Thr1117Asn)
c.2825C>A (p.Thr942Asn)
c.3140C>A (p.Thr1047Asn)
n.7712C>A
3g.9473369C>GCA351685768SETD5n.1799C>G
c.3425C>G (p.Thr1142Ser)
n.3833C>G
n.898C>G
n.4404C>G
n.4760C>G
c.3329C>G (p.Thr1110Ser)
c.*3475C>G (n.*3475C>G)
c.*3398C>G (n.*3398C>G)
c.*3703C>G (n.*3703C>G)
c.*3434C>G (n.*3434C>G)
c.3035C>G (p.Thr1012Ser)
c.2331C>G
c.3386C>G (p.Thr1129Ser)
c.2365C>G
c.1320C>G
n.2670C>G
n.397C>G
n.134C>G
n.3493C>G
c.3503C>G (p.Thr1168Ser)
c.3482C>G (p.Thr1161Ser)
c.3464C>G (p.Thr1155Ser)
c.3446C>G (p.Thr1149Ser)
c.3407C>G (p.Thr1136Ser)
c.3368C>G (p.Thr1123Ser)
c.3092C>G (p.Thr1031Ser)
c.3053C>G (p.Thr1018Ser)
c.3443C>G (p.Thr1148Ser)
c.3350C>G (p.Thr1117Ser)
c.2825C>G (p.Thr942Ser)
c.3140C>G (p.Thr1047Ser)
n.7712C>G
3g.9473369C>TCA351685771SETD5n.1799C>T
c.3425C>T (p.Thr1142Ile)
n.3833C>T
n.898C>T
n.4404C>T
n.4760C>T
c.3329C>T (p.Thr1110Ile)
c.*3475C>T (n.*3475C>T)
c.*3398C>T (n.*3398C>T)
c.*3703C>T (n.*3703C>T)
c.*3434C>T (n.*3434C>T)
c.3035C>T (p.Thr1012Ile)
c.2331C>T
c.3386C>T (p.Thr1129Ile)
c.2365C>T
c.1320C>T
n.2670C>T
n.397C>T
n.134C>T
n.3493C>T
c.3503C>T (p.Thr1168Ile)
c.3482C>T (p.Thr1161Ile)
c.3464C>T (p.Thr1155Ile)
c.3446C>T (p.Thr1149Ile)
c.3407C>T (p.Thr1136Ile)
c.3368C>T (p.Thr1123Ile)
c.3092C>T (p.Thr1031Ile)
c.3053C>T (p.Thr1018Ile)
c.3443C>T (p.Thr1148Ile)
c.3350C>T (p.Thr1117Ile)
c.2825C>T (p.Thr942Ile)
c.3140C>T (p.Thr1047Ile)
n.7712C>T
3g.9473370T>ACA432365787SETD5n.1800T>A
c.3426T>A (p.Thr1142=)
n.3834T>A
n.899T>A
n.4405T>A
n.4761T>A
c.3330T>A (p.Thr1110=)
c.*3476T>A (n.*3476T>A)
c.*3399T>A (n.*3399T>A)
c.*3704T>A (n.*3704T>A)
c.*3435T>A (n.*3435T>A)
c.3036T>A (p.Thr1012=)
c.2332T>A
c.3387T>A (p.Thr1129=)
c.2366T>A
c.1321T>A
n.2671T>A
n.398T>A
n.135T>A
n.3494T>A
c.3504T>A (p.Thr1168=)
c.3483T>A (p.Thr1161=)
c.3465T>A (p.Thr1155=)
c.3447T>A (p.Thr1149=)
c.3408T>A (p.Thr1136=)
c.3369T>A (p.Thr1123=)
c.3093T>A (p.Thr1031=)
c.3054T>A (p.Thr1018=)
c.3444T>A (p.Thr1148=)
c.3351T>A (p.Thr1117=)
c.2826T>A (p.Thr942=)
c.3141T>A (p.Thr1047=)
n.7713T>A
3g.9473370T>CCA2239667SETD5n.1800T>C
c.3426T>C (p.Thr1142=)
n.3834T>C
n.899T>C
n.4405T>C
n.4761T>C
c.3330T>C (p.Thr1110=)
c.*3476T>C (n.*3476T>C)
c.*3399T>C (n.*3399T>C)
c.*3704T>C (n.*3704T>C)
c.*3435T>C (n.*3435T>C)
c.3036T>C (p.Thr1012=)
c.2332T>C
c.3387T>C (p.Thr1129=)
c.2366T>C
c.1321T>C
n.2671T>C
n.398T>C
n.135T>C
n.3494T>C
c.3504T>C (p.Thr1168=)
c.3483T>C (p.Thr1161=)
c.3465T>C (p.Thr1155=)
c.3447T>C (p.Thr1149=)
c.3408T>C (p.Thr1136=)
c.3369T>C (p.Thr1123=)
c.3093T>C (p.Thr1031=)
c.3054T>C (p.Thr1018=)
c.3444T>C (p.Thr1148=)
c.3351T>C (p.Thr1117=)
c.2826T>C (p.Thr942=)
c.3141T>C (p.Thr1047=)
n.7713T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9473370T>GCA432365788SETD5n.1800T>G
c.3426T>G (p.Thr1142=)
n.3834T>G
n.899T>G
n.4405T>G
n.4761T>G
c.3330T>G (p.Thr1110=)
c.*3476T>G (n.*3476T>G)
c.*3399T>G (n.*3399T>G)
c.*3704T>G (n.*3704T>G)
c.*3435T>G (n.*3435T>G)
c.3036T>G (p.Thr1012=)
c.2332T>G
c.3387T>G (p.Thr1129=)
c.2366T>G
c.1321T>G
n.2671T>G
n.398T>G
n.135T>G
n.3494T>G
c.3504T>G (p.Thr1168=)
c.3483T>G (p.Thr1161=)
c.3465T>G (p.Thr1155=)
c.3447T>G (p.Thr1149=)
c.3408T>G (p.Thr1136=)
c.3369T>G (p.Thr1123=)
c.3093T>G (p.Thr1031=)
c.3054T>G (p.Thr1018=)
c.3444T>G (p.Thr1148=)
c.3351T>G (p.Thr1117=)
c.2826T>G (p.Thr942=)
c.3141T>G (p.Thr1047=)
n.7713T>G
 gnomAD v4
3g.9473370T=CA1344740207SETD5n.1800T=
c.3426T= (p.Thr1142=)
n.3834T=
n.899T=
n.4405T=
n.4761T=
c.3330T= (p.Thr1110=)
c.*3476T= (n.*3476T=)
c.*3399T= (n.*3399T=)
c.*3704T= (n.*3704T=)
c.*3435T= (n.*3435T=)
c.3036T= (p.Thr1012=)
c.2332T=
c.3387T= (p.Thr1129=)
c.2366T=
c.1321T=
n.2671T=
n.398T=
n.135T=
n.3494T=
c.3504T= (p.Thr1168=)
c.3483T= (p.Thr1161=)
c.3465T= (p.Thr1155=)
c.3447T= (p.Thr1149=)
c.3408T= (p.Thr1136=)
c.3369T= (p.Thr1123=)
c.3093T= (p.Thr1031=)
c.3054T= (p.Thr1018=)
c.3444T= (p.Thr1148=)
c.3351T= (p.Thr1117=)
c.2826T= (p.Thr942=)
c.3141T= (p.Thr1047=)
n.7713T=
3g.9473371G>ACA351685784SETD5n.1801G>A
c.3427G>A (p.Gly1143Ser)
n.3835G>A
n.900G>A
n.4406G>A
n.4762G>A
c.3331G>A (p.Gly1111Ser)
c.*3477G>A (n.*3477G>A)
c.*3400G>A (n.*3400G>A)
c.*3705G>A (n.*3705G>A)
c.*3436G>A (n.*3436G>A)
c.3037G>A (p.Gly1013Ser)
c.2333G>A
c.3388G>A (p.Gly1130Ser)
c.2367G>A
c.1322G>A
n.2672G>A
n.399G>A
n.136G>A
n.3495G>A
c.3505G>A (p.Gly1169Ser)
c.3484G>A (p.Gly1162Ser)
c.3466G>A (p.Gly1156Ser)
c.3448G>A (p.Gly1150Ser)
c.3409G>A (p.Gly1137Ser)
c.3370G>A (p.Gly1124Ser)
c.3094G>A (p.Gly1032Ser)
c.3055G>A (p.Gly1019Ser)
c.3445G>A (p.Gly1149Ser)
c.3352G>A (p.Gly1118Ser)
c.2827G>A (p.Gly943Ser)
c.3142G>A (p.Gly1048Ser)
n.7714G>A
 gnomAD v4
3g.9473371G>CCA351685781SETD5n.1801G>C
c.3427G>C (p.Gly1143Arg)
n.3835G>C
n.900G>C
n.4406G>C
n.4762G>C
c.3331G>C (p.Gly1111Arg)
c.*3477G>C (n.*3477G>C)
c.*3400G>C (n.*3400G>C)
c.*3705G>C (n.*3705G>C)
c.*3436G>C (n.*3436G>C)
c.3037G>C (p.Gly1013Arg)
c.2333G>C
c.3388G>C (p.Gly1130Arg)
c.2367G>C
c.1322G>C
n.2672G>C
n.399G>C
n.136G>C
n.3495G>C
c.3505G>C (p.Gly1169Arg)
c.3484G>C (p.Gly1162Arg)
c.3466G>C (p.Gly1156Arg)
c.3448G>C (p.Gly1150Arg)
c.3409G>C (p.Gly1137Arg)
c.3370G>C (p.Gly1124Arg)
c.3094G>C (p.Gly1032Arg)
c.3055G>C (p.Gly1019Arg)
c.3445G>C (p.Gly1149Arg)
c.3352G>C (p.Gly1118Arg)
c.2827G>C (p.Gly943Arg)
c.3142G>C (p.Gly1048Arg)
n.7714G>C
 ClinVar
3g.9473371G>TCA351685777SETD5n.1801G>T
c.3427G>T (p.Gly1143Cys)
n.3835G>T
n.900G>T
n.4406G>T
n.4762G>T
c.3331G>T (p.Gly1111Cys)
c.*3477G>T (n.*3477G>T)
c.*3400G>T (n.*3400G>T)
c.*3705G>T (n.*3705G>T)
c.*3436G>T (n.*3436G>T)
c.3037G>T (p.Gly1013Cys)
c.2333G>T
c.3388G>T (p.Gly1130Cys)
c.2367G>T
c.1322G>T
n.2672G>T
n.399G>T
n.136G>T
n.3495G>T
c.3505G>T (p.Gly1169Cys)
c.3484G>T (p.Gly1162Cys)
c.3466G>T (p.Gly1156Cys)
c.3448G>T (p.Gly1150Cys)
c.3409G>T (p.Gly1137Cys)
c.3370G>T (p.Gly1124Cys)
c.3094G>T (p.Gly1032Cys)
c.3055G>T (p.Gly1019Cys)
c.3445G>T (p.Gly1149Cys)
c.3352G>T (p.Gly1118Cys)
c.2827G>T (p.Gly943Cys)
c.3142G>T (p.Gly1048Cys)
n.7714G>T
3g.9473372G>ACA69951089SETD5n.1802G>A
c.3428G>A (p.Gly1143Asp)
n.3836G>A
n.901G>A
n.4407G>A
n.4763G>A
c.3332G>A (p.Gly1111Asp)
c.*3478G>A (n.*3478G>A)
c.*3401G>A (n.*3401G>A)
c.*3706G>A (n.*3706G>A)
c.*3437G>A (n.*3437G>A)
c.3038G>A (p.Gly1013Asp)
c.2334G>A
c.3389G>A (p.Gly1130Asp)
c.2368G>A
c.1323G>A
n.2673G>A
n.400G>A
n.137G>A
n.3496G>A
c.3506G>A (p.Gly1169Asp)
c.3485G>A (p.Gly1162Asp)
c.3467G>A (p.Gly1156Asp)
c.3449G>A (p.Gly1150Asp)
c.3410G>A (p.Gly1137Asp)
c.3371G>A (p.Gly1124Asp)
c.3095G>A (p.Gly1032Asp)
c.3056G>A (p.Gly1019Asp)
c.3446G>A (p.Gly1149Asp)
c.3353G>A (p.Gly1118Asp)
c.2828G>A (p.Gly943Asp)
c.3143G>A (p.Gly1048Asp)
n.7715G>A
 dbSNP gnomAD v4
3g.9473372G>CCA351685789SETD5n.1802G>C
c.3428G>C (p.Gly1143Ala)
n.3836G>C
n.901G>C
n.4407G>C
n.4763G>C
c.3332G>C (p.Gly1111Ala)
c.*3478G>C (n.*3478G>C)
c.*3401G>C (n.*3401G>C)
c.*3706G>C (n.*3706G>C)
c.*3437G>C (n.*3437G>C)
c.3038G>C (p.Gly1013Ala)
c.2334G>C
c.3389G>C (p.Gly1130Ala)
c.2368G>C
c.1323G>C
n.2673G>C
n.400G>C
n.137G>C
n.3496G>C
c.3506G>C (p.Gly1169Ala)
c.3485G>C (p.Gly1162Ala)
c.3467G>C (p.Gly1156Ala)
c.3449G>C (p.Gly1150Ala)
c.3410G>C (p.Gly1137Ala)
c.3371G>C (p.Gly1124Ala)
c.3095G>C (p.Gly1032Ala)
c.3056G>C (p.Gly1019Ala)
c.3446G>C (p.Gly1149Ala)
c.3353G>C (p.Gly1118Ala)
c.2828G>C (p.Gly943Ala)
c.3143G>C (p.Gly1048Ala)
n.7715G>C
3g.9473372G=CA1344740212SETD5n.1802G=
c.3428G= (p.Gly1143=)
n.3836G=
n.901G=
n.4407G=
n.4763G=
c.3332G= (p.Gly1111=)
c.*3478G= (n.*3478G=)
c.*3401G= (n.*3401G=)
c.*3706G= (n.*3706G=)
c.*3437G= (n.*3437G=)
c.3038G= (p.Gly1013=)
c.2334G=
c.3389G= (p.Gly1130=)
c.2368G=
c.1323G=
n.2673G=
n.400G=
n.137G=
n.3496G=
c.3506G= (p.Gly1169=)
c.3485G= (p.Gly1162=)
c.3467G= (p.Gly1156=)
c.3449G= (p.Gly1150=)
c.3410G= (p.Gly1137=)
c.3371G= (p.Gly1124=)
c.3095G= (p.Gly1032=)
c.3056G= (p.Gly1019=)
c.3446G= (p.Gly1149=)
c.3353G= (p.Gly1118=)
c.2828G= (p.Gly943=)
c.3143G= (p.Gly1048=)
n.7715G=
3g.9473372G>TCA351685801SETD5n.1802G>T
c.3428G>T (p.Gly1143Val)
n.3836G>T
n.901G>T
n.4407G>T
n.4763G>T
c.3332G>T (p.Gly1111Val)
c.*3478G>T (n.*3478G>T)
c.*3401G>T (n.*3401G>T)
c.*3706G>T (n.*3706G>T)
c.*3437G>T (n.*3437G>T)
c.3038G>T (p.Gly1013Val)
c.2334G>T
c.3389G>T (p.Gly1130Val)
c.2368G>T
c.1323G>T
n.2673G>T
n.400G>T
n.137G>T
n.3496G>T
c.3506G>T (p.Gly1169Val)
c.3485G>T (p.Gly1162Val)
c.3467G>T (p.Gly1156Val)
c.3449G>T (p.Gly1150Val)
c.3410G>T (p.Gly1137Val)
c.3371G>T (p.Gly1124Val)
c.3095G>T (p.Gly1032Val)
c.3056G>T (p.Gly1019Val)
c.3446G>T (p.Gly1149Val)
c.3353G>T (p.Gly1118Val)
c.2828G>T (p.Gly943Val)
c.3143G>T (p.Gly1048Val)
n.7715G>T
3g.9473373T>ACA432365789SETD5n.1803T>A
c.3429T>A (p.Gly1143=)
n.3837T>A
n.902T>A
n.4408T>A
n.4764T>A
c.3333T>A (p.Gly1111=)
c.*3479T>A (n.*3479T>A)
c.*3402T>A (n.*3402T>A)
c.*3707T>A (n.*3707T>A)
c.*3438T>A (n.*3438T>A)
c.3039T>A (p.Gly1013=)
c.2335T>A
c.3390T>A (p.Gly1130=)
c.2369T>A
n.2674T>A
n.401T>A
n.138T>A
n.3497T>A
c.3507T>A (p.Gly1169=)
c.3486T>A (p.Gly1162=)
c.3468T>A (p.Gly1156=)
c.3450T>A (p.Gly1150=)
c.3411T>A (p.Gly1137=)
c.3372T>A (p.Gly1124=)
c.3096T>A (p.Gly1032=)
c.3057T>A (p.Gly1019=)
c.3447T>A (p.Gly1149=)
c.3354T>A (p.Gly1118=)
c.2829T>A (p.Gly943=)
c.3144T>A (p.Gly1048=)
n.7716T>A
3g.9473373T>CCA432365790SETD5n.1803T>C
c.3429T>C (p.Gly1143=)
n.3837T>C
n.902T>C
n.4408T>C
n.4764T>C
c.3333T>C (p.Gly1111=)
c.*3479T>C (n.*3479T>C)
c.*3402T>C (n.*3402T>C)
c.*3707T>C (n.*3707T>C)
c.*3438T>C (n.*3438T>C)
c.3039T>C (p.Gly1013=)
c.2335T>C
c.3390T>C (p.Gly1130=)
c.2369T>C
n.2674T>C
n.401T>C
n.138T>C
n.3497T>C
c.3507T>C (p.Gly1169=)
c.3486T>C (p.Gly1162=)
c.3468T>C (p.Gly1156=)
c.3450T>C (p.Gly1150=)
c.3411T>C (p.Gly1137=)
c.3372T>C (p.Gly1124=)
c.3096T>C (p.Gly1032=)
c.3057T>C (p.Gly1019=)
c.3447T>C (p.Gly1149=)
c.3354T>C (p.Gly1118=)
c.2829T>C (p.Gly943=)
c.3144T>C (p.Gly1048=)
n.7716T>C
3g.9473373T>GCA432365791SETD5n.1803T>G
c.3429T>G (p.Gly1143=)
n.3837T>G
n.902T>G
n.4408T>G
n.4764T>G
c.3333T>G (p.Gly1111=)
c.*3479T>G (n.*3479T>G)
c.*3402T>G (n.*3402T>G)
c.*3707T>G (n.*3707T>G)
c.*3438T>G (n.*3438T>G)
c.3039T>G (p.Gly1013=)
c.2335T>G
c.3390T>G (p.Gly1130=)
c.2369T>G
n.2674T>G
n.401T>G
n.138T>G
n.3497T>G
c.3507T>G (p.Gly1169=)
c.3486T>G (p.Gly1162=)
c.3468T>G (p.Gly1156=)
c.3450T>G (p.Gly1150=)
c.3411T>G (p.Gly1137=)
c.3372T>G (p.Gly1124=)
c.3096T>G (p.Gly1032=)
c.3057T>G (p.Gly1019=)
c.3447T>G (p.Gly1149=)
c.3354T>G (p.Gly1118=)
c.2829T>G (p.Gly943=)
c.3144T>G (p.Gly1048=)
n.7716T>G
3g.9473374G>ACA351685806SETD5n.1804G>A
c.3430G>A (p.Ala1144Thr)
n.3838G>A
n.903G>A
n.4409G>A
n.4765G>A
c.3334G>A (p.Ala1112Thr)
c.*3480G>A (n.*3480G>A)
c.*3403G>A (n.*3403G>A)
c.*3708G>A (n.*3708G>A)
c.*3439G>A (n.*3439G>A)
c.3040G>A (p.Ala1014Thr)
c.2336G>A
c.3391G>A (p.Ala1131Thr)
c.2370G>A
n.2675G>A
n.402G>A
n.139G>A
n.3498G>A
c.3508G>A (p.Ala1170Thr)
c.3487G>A (p.Ala1163Thr)
c.3469G>A (p.Ala1157Thr)
c.3451G>A (p.Ala1151Thr)
c.3412G>A (p.Ala1138Thr)
c.3373G>A (p.Ala1125Thr)
c.3097G>A (p.Ala1033Thr)
c.3058G>A (p.Ala1020Thr)
c.3448G>A (p.Ala1150Thr)
c.3355G>A (p.Ala1119Thr)
c.2830G>A (p.Ala944Thr)
c.3145G>A (p.Ala1049Thr)
n.7717G>A
3g.9473374G>CCA351685810SETD5n.1804G>C
c.3430G>C (p.Ala1144Pro)
n.3838G>C
n.903G>C
n.4409G>C
n.4765G>C
c.3334G>C (p.Ala1112Pro)
c.*3480G>C (n.*3480G>C)
c.*3403G>C (n.*3403G>C)
c.*3708G>C (n.*3708G>C)
c.*3439G>C (n.*3439G>C)
c.3040G>C (p.Ala1014Pro)
c.2336G>C
c.3391G>C (p.Ala1131Pro)
c.2370G>C
n.2675G>C
n.402G>C
n.139G>C
n.3498G>C
c.3508G>C (p.Ala1170Pro)
c.3487G>C (p.Ala1163Pro)
c.3469G>C (p.Ala1157Pro)
c.3451G>C (p.Ala1151Pro)
c.3412G>C (p.Ala1138Pro)
c.3373G>C (p.Ala1125Pro)
c.3097G>C (p.Ala1033Pro)
c.3058G>C (p.Ala1020Pro)
c.3448G>C (p.Ala1150Pro)
c.3355G>C (p.Ala1119Pro)
c.2830G>C (p.Ala944Pro)
c.3145G>C (p.Ala1049Pro)
n.7717G>C
3g.9473374G>TCA351685814SETD5n.1804G>T
c.3430G>T (p.Ala1144Ser)
n.3838G>T
n.903G>T
n.4409G>T
n.4765G>T
c.3334G>T (p.Ala1112Ser)
c.*3480G>T (n.*3480G>T)
c.*3403G>T (n.*3403G>T)
c.*3708G>T (n.*3708G>T)
c.*3439G>T (n.*3439G>T)
c.3040G>T (p.Ala1014Ser)
c.2336G>T
c.3391G>T (p.Ala1131Ser)
c.2370G>T
n.2675G>T
n.402G>T
n.139G>T
n.3498G>T
c.3508G>T (p.Ala1170Ser)
c.3487G>T (p.Ala1163Ser)
c.3469G>T (p.Ala1157Ser)
c.3451G>T (p.Ala1151Ser)
c.3412G>T (p.Ala1138Ser)
c.3373G>T (p.Ala1125Ser)
c.3097G>T (p.Ala1033Ser)
c.3058G>T (p.Ala1020Ser)
c.3448G>T (p.Ala1150Ser)
c.3355G>T (p.Ala1119Ser)
c.2830G>T (p.Ala944Ser)
c.3145G>T (p.Ala1049Ser)
n.7717G>T
 gnomAD v4
3g.9473375C>ACA351685819SETD5n.1805C>A
c.3431C>A (p.Ala1144Asp)
n.3839C>A
n.904C>A
n.4410C>A
n.4766C>A
c.3335C>A (p.Ala1112Asp)
c.*3481C>A (n.*3481C>A)
c.*3404C>A (n.*3404C>A)
c.*3709C>A (n.*3709C>A)
c.*3440C>A (n.*3440C>A)
c.3041C>A (p.Ala1014Asp)
c.2337C>A
c.3392C>A (p.Ala1131Asp)
c.2371C>A
n.2676C>A
n.403C>A
n.140C>A
n.3499C>A
c.3509C>A (p.Ala1170Asp)
c.3488C>A (p.Ala1163Asp)
c.3470C>A (p.Ala1157Asp)
c.3452C>A (p.Ala1151Asp)
c.3413C>A (p.Ala1138Asp)
c.3374C>A (p.Ala1125Asp)
c.3098C>A (p.Ala1033Asp)
c.3059C>A (p.Ala1020Asp)
c.3449C>A (p.Ala1150Asp)
c.3356C>A (p.Ala1119Asp)
c.2831C>A (p.Ala944Asp)
c.3146C>A (p.Ala1049Asp)
n.7718C>A
3g.9473375C=CA1344740217SETD5n.1805C=
c.3431C= (p.Ala1144=)
n.3839C=
n.904C=
n.4410C=
n.4766C=
c.3335C= (p.Ala1112=)
c.*3481C= (n.*3481C=)
c.*3404C= (n.*3404C=)
c.*3709C= (n.*3709C=)
c.*3440C= (n.*3440C=)
c.3041C= (p.Ala1014=)
c.2337C=
c.3392C= (p.Ala1131=)
c.2371C=
n.2676C=
n.403C=
n.140C=
n.3499C=
c.3509C= (p.Ala1170=)
c.3488C= (p.Ala1163=)
c.3470C= (p.Ala1157=)
c.3452C= (p.Ala1151=)
c.3413C= (p.Ala1138=)
c.3374C= (p.Ala1125=)
c.3098C= (p.Ala1033=)
c.3059C= (p.Ala1020=)
c.3449C= (p.Ala1150=)
c.3356C= (p.Ala1119=)
c.2831C= (p.Ala944=)
c.3146C= (p.Ala1049=)
n.7718C=
3g.9473375C>GCA351685822SETD5n.1805C>G
c.3431C>G (p.Ala1144Gly)
n.3839C>G
n.904C>G
n.4410C>G
n.4766C>G
c.3335C>G (p.Ala1112Gly)
c.*3481C>G (n.*3481C>G)
c.*3404C>G (n.*3404C>G)
c.*3709C>G (n.*3709C>G)
c.*3440C>G (n.*3440C>G)
c.3041C>G (p.Ala1014Gly)
c.2337C>G
c.3392C>G (p.Ala1131Gly)
c.2371C>G
n.2676C>G
n.403C>G
n.140C>G
n.3499C>G
c.3509C>G (p.Ala1170Gly)
c.3488C>G (p.Ala1163Gly)
c.3470C>G (p.Ala1157Gly)
c.3452C>G (p.Ala1151Gly)
c.3413C>G (p.Ala1138Gly)
c.3374C>G (p.Ala1125Gly)
c.3098C>G (p.Ala1033Gly)
c.3059C>G (p.Ala1020Gly)
c.3449C>G (p.Ala1150Gly)
c.3356C>G (p.Ala1119Gly)
c.2831C>G (p.Ala944Gly)
c.3146C>G (p.Ala1049Gly)
n.7718C>G
3g.9473375C>TCA2239668SETD5n.1805C>T
c.3431C>T (p.Ala1144Val)
n.3839C>T
n.904C>T
n.4410C>T
n.4766C>T
c.3335C>T (p.Ala1112Val)
c.*3481C>T (n.*3481C>T)
c.*3404C>T (n.*3404C>T)
c.*3709C>T (n.*3709C>T)
c.*3440C>T (n.*3440C>T)
c.3041C>T (p.Ala1014Val)
c.2337C>T
c.3392C>T (p.Ala1131Val)
c.2371C>T
n.2676C>T
n.403C>T
n.140C>T
n.3499C>T
c.3509C>T (p.Ala1170Val)
c.3488C>T (p.Ala1163Val)
c.3470C>T (p.Ala1157Val)
c.3452C>T (p.Ala1151Val)
c.3413C>T (p.Ala1138Val)
c.3374C>T (p.Ala1125Val)
c.3098C>T (p.Ala1033Val)
c.3059C>T (p.Ala1020Val)
c.3449C>T (p.Ala1150Val)
c.3356C>T (p.Ala1119Val)
c.2831C>T (p.Ala944Val)
c.3146C>T (p.Ala1049Val)
n.7718C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
3g.9473376C>ACA432365792SETD5n.1806C>A
c.3432C>A (p.Ala1144=)
n.3840C>A
n.905C>A
n.4411C>A
n.4767C>A
c.3336C>A (p.Ala1112=)
c.*3482C>A (n.*3482C>A)
c.*3405C>A (n.*3405C>A)
c.*3710C>A (n.*3710C>A)
c.*3441C>A (n.*3441C>A)
c.3042C>A (p.Ala1014=)
c.2338C>A
c.3393C>A (p.Ala1131=)
c.2372C>A
n.2677C>A
n.404C>A
n.141C>A
n.3500C>A
c.3510C>A (p.Ala1170=)
c.3489C>A (p.Ala1163=)
c.3471C>A (p.Ala1157=)
c.3453C>A (p.Ala1151=)
c.3414C>A (p.Ala1138=)
c.3375C>A (p.Ala1125=)
c.3099C>A (p.Ala1033=)
c.3060C>A (p.Ala1020=)
c.3450C>A (p.Ala1150=)
c.3357C>A (p.Ala1119=)
c.2832C>A (p.Ala944=)
c.3147C>A (p.Ala1049=)
n.7719C>A
3g.9473376C>GCA432365793SETD5n.1806C>G
c.3432C>G (p.Ala1144=)
n.3840C>G
n.905C>G
n.4411C>G
n.4767C>G
c.3336C>G (p.Ala1112=)
c.*3482C>G (n.*3482C>G)
c.*3405C>G (n.*3405C>G)
c.*3710C>G (n.*3710C>G)
c.*3441C>G (n.*3441C>G)
c.3042C>G (p.Ala1014=)
c.2338C>G
c.3393C>G (p.Ala1131=)
c.2372C>G
n.2677C>G
n.404C>G
n.141C>G
n.3500C>G
c.3510C>G (p.Ala1170=)
c.3489C>G (p.Ala1163=)
c.3471C>G (p.Ala1157=)
c.3453C>G (p.Ala1151=)
c.3414C>G (p.Ala1138=)
c.3375C>G (p.Ala1125=)
c.3099C>G (p.Ala1033=)
c.3060C>G (p.Ala1020=)
c.3450C>G (p.Ala1150=)
c.3357C>G (p.Ala1119=)
c.2832C>G (p.Ala944=)
c.3147C>G (p.Ala1049=)
n.7719C>G
3g.9473376C>TCA432365794SETD5n.1806C>T
c.3432C>T (p.Ala1144=)
n.3840C>T
n.905C>T
n.4411C>T
n.4767C>T
c.3336C>T (p.Ala1112=)
c.*3482C>T (n.*3482C>T)
c.*3405C>T (n.*3405C>T)
c.*3710C>T (n.*3710C>T)
c.*3441C>T (n.*3441C>T)
c.3042C>T (p.Ala1014=)
c.2338C>T
c.3393C>T (p.Ala1131=)
c.2372C>T
n.2677C>T
n.404C>T
n.141C>T
n.3500C>T
c.3510C>T (p.Ala1170=)
c.3489C>T (p.Ala1163=)
c.3471C>T (p.Ala1157=)
c.3453C>T (p.Ala1151=)
c.3414C>T (p.Ala1138=)
c.3375C>T (p.Ala1125=)
c.3099C>T (p.Ala1033=)
c.3060C>T (p.Ala1020=)
c.3450C>T (p.Ala1150=)
c.3357C>T (p.Ala1119=)
c.2832C>T (p.Ala944=)
c.3147C>T (p.Ala1049=)
n.7719C>T
3g.9473377C>ACA351685831SETD5n.1807C>A
c.3433C>A (p.His1145Asn)
n.3841C>A
n.906C>A
n.4412C>A
n.4768C>A
c.3337C>A (p.His1113Asn)
c.*3483C>A (n.*3483C>A)
c.*3406C>A (n.*3406C>A)
c.*3711C>A (n.*3711C>A)
c.*3442C>A (n.*3442C>A)
c.3043C>A (p.His1015Asn)
c.2339C>A
c.3394C>A (p.His1132Asn)
c.2373C>A
n.2678C>A
n.405C>A
n.142C>A
n.3501C>A
c.3511C>A (p.His1171Asn)
c.3490C>A (p.His1164Asn)
c.3472C>A (p.His1158Asn)
c.3454C>A (p.His1152Asn)
c.3415C>A (p.His1139Asn)
c.3376C>A (p.His1126Asn)
c.3100C>A (p.His1034Asn)
c.3061C>A (p.His1021Asn)
c.3451C>A (p.His1151Asn)
c.3358C>A (p.His1120Asn)
c.2833C>A (p.His945Asn)
c.3148C>A (p.His1050Asn)
n.7720C>A
3g.9473377C=CA1344740221SETD5n.1807C=
c.3433C= (p.His1145=)
n.3841C=
n.906C=
n.4412C=
n.4768C=
c.3337C= (p.His1113=)
c.*3483C= (n.*3483C=)
c.*3406C= (n.*3406C=)
c.*3711C= (n.*3711C=)
c.*3442C= (n.*3442C=)
c.3043C= (p.His1015=)
c.2339C=
c.3394C= (p.His1132=)
c.2373C=
n.2678C=
n.405C=
n.142C=
n.3501C=
c.3511C= (p.His1171=)
c.3490C= (p.His1164=)
c.3472C= (p.His1158=)
c.3454C= (p.His1152=)
c.3415C= (p.His1139=)
c.3376C= (p.His1126=)
c.3100C= (p.His1034=)
c.3061C= (p.His1021=)
c.3451C= (p.His1151=)
c.3358C= (p.His1120=)
c.2833C= (p.His945=)
c.3148C= (p.His1050=)
n.7720C=
3g.9473377C>GCA351685834SETD5n.1807C>G
c.3433C>G (p.His1145Asp)
n.3841C>G
n.906C>G
n.4412C>G
n.4768C>G
c.3337C>G (p.His1113Asp)
c.*3483C>G (n.*3483C>G)
c.*3406C>G (n.*3406C>G)
c.*3711C>G (n.*3711C>G)
c.*3442C>G (n.*3442C>G)
c.3043C>G (p.His1015Asp)
c.2339C>G
c.3394C>G (p.His1132Asp)
c.2373C>G
n.2678C>G
n.405C>G
n.142C>G
n.3501C>G
c.3511C>G (p.His1171Asp)
c.3490C>G (p.His1164Asp)
c.3472C>G (p.His1158Asp)
c.3454C>G (p.His1152Asp)
c.3415C>G (p.His1139Asp)
c.3376C>G (p.His1126Asp)
c.3100C>G (p.His1034Asp)
c.3061C>G (p.His1021Asp)
c.3451C>G (p.His1151Asp)
c.3358C>G (p.His1120Asp)
c.2833C>G (p.His945Asp)
c.3148C>G (p.His1050Asp)
n.7720C>G
 gnomAD v4
3g.9473377C>TCA2239669SETD5n.1807C>T
c.3433C>T (p.His1145Tyr)
n.3841C>T
n.906C>T
n.4412C>T
n.4768C>T
c.3337C>T (p.His1113Tyr)
c.*3483C>T (n.*3483C>T)
c.*3406C>T (n.*3406C>T)
c.*3711C>T (n.*3711C>T)
c.*3442C>T (n.*3442C>T)
c.3043C>T (p.His1015Tyr)
c.2339C>T
c.3394C>T (p.His1132Tyr)
c.2373C>T
n.2678C>T
n.405C>T
n.142C>T
n.3501C>T
c.3511C>T (p.His1171Tyr)
c.3490C>T (p.His1164Tyr)
c.3472C>T (p.His1158Tyr)
c.3454C>T (p.His1152Tyr)
c.3415C>T (p.His1139Tyr)
c.3376C>T (p.His1126Tyr)
c.3100C>T (p.His1034Tyr)
c.3061C>T (p.His1021Tyr)
c.3451C>T (p.His1151Tyr)
c.3358C>T (p.His1120Tyr)
c.2833C>T (p.His945Tyr)
c.3148C>T (p.His1050Tyr)
n.7720C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.9473378A=CA1344740227SETD5n.1808A=
c.3434A= (p.His1145=)
n.3842A=
n.907A=
n.4413A=
n.4769A=
c.3338A= (p.His1113=)
c.*3484A= (n.*3484A=)
c.*3407A= (n.*3407A=)
c.*3712A= (n.*3712A=)
c.*3443A= (n.*3443A=)
c.3044A= (p.His1015=)
c.2340A=
c.3395A= (p.His1132=)
c.2374A=
n.2679A=
n.406A=
n.143A=
n.3502A=
c.3512A= (p.His1171=)
c.3491A= (p.His1164=)
c.3473A= (p.His1158=)
c.3455A= (p.His1152=)
c.3416A= (p.His1139=)
c.3377A= (p.His1126=)
c.3101A= (p.His1034=)
c.3062A= (p.His1021=)
c.3452A= (p.His1151=)
c.3359A= (p.His1120=)
c.2834A= (p.His945=)
c.3149A= (p.His1050=)
n.7721A=
3g.9473378A>CCA351685841SETD5n.1808A>C
c.3434A>C (p.His1145Pro)
n.3842A>C
n.907A>C
n.4413A>C
n.4769A>C
c.3338A>C (p.His1113Pro)
c.*3484A>C (n.*3484A>C)
c.*3407A>C (n.*3407A>C)
c.*3712A>C (n.*3712A>C)
c.*3443A>C (n.*3443A>C)
c.3044A>C (p.His1015Pro)
c.2340A>C
c.3395A>C (p.His1132Pro)
c.2374A>C
n.2679A>C
n.406A>C
n.143A>C
n.3502A>C
c.3512A>C (p.His1171Pro)
c.3491A>C (p.His1164Pro)
c.3473A>C (p.His1158Pro)
c.3455A>C (p.His1152Pro)
c.3416A>C (p.His1139Pro)
c.3377A>C (p.His1126Pro)
c.3101A>C (p.His1034Pro)
c.3062A>C (p.His1021Pro)
c.3452A>C (p.His1151Pro)
c.3359A>C (p.His1120Pro)
c.2834A>C (p.His945Pro)
c.3149A>C (p.His1050Pro)
n.7721A>C
3g.9473378A>GCA2239670SETD5n.1808A>G
c.3434A>G (p.His1145Arg)
n.3842A>G
n.907A>G
n.4413A>G
n.4769A>G
c.3338A>G (p.His1113Arg)
c.*3484A>G (n.*3484A>G)
c.*3407A>G (n.*3407A>G)
c.*3712A>G (n.*3712A>G)
c.*3443A>G (n.*3443A>G)
c.3044A>G (p.His1015Arg)
c.2340A>G
c.3395A>G (p.His1132Arg)
c.2374A>G
n.2679A>G
n.406A>G
n.143A>G
n.3502A>G
c.3512A>G (p.His1171Arg)
c.3491A>G (p.His1164Arg)
c.3473A>G (p.His1158Arg)
c.3455A>G (p.His1152Arg)
c.3416A>G (p.His1139Arg)
c.3377A>G (p.His1126Arg)
c.3101A>G (p.His1034Arg)
c.3062A>G (p.His1021Arg)
c.3452A>G (p.His1151Arg)
c.3359A>G (p.His1120Arg)
c.2834A>G (p.His945Arg)
c.3149A>G (p.His1050Arg)
n.7721A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9473378A>TCA351685843SETD5n.1808A>T
c.3434A>T (p.His1145Leu)
n.3842A>T
n.907A>T
n.4413A>T
n.4769A>T
c.3338A>T (p.His1113Leu)
c.*3484A>T (n.*3484A>T)
c.*3407A>T (n.*3407A>T)
c.*3712A>T (n.*3712A>T)
c.*3443A>T (n.*3443A>T)
c.3044A>T (p.His1015Leu)
c.2340A>T
c.3395A>T (p.His1132Leu)
c.2374A>T
n.2679A>T
n.406A>T
n.143A>T
n.3502A>T
c.3512A>T (p.His1171Leu)
c.3491A>T (p.His1164Leu)
c.3473A>T (p.His1158Leu)
c.3455A>T (p.His1152Leu)
c.3416A>T (p.His1139Leu)
c.3377A>T (p.His1126Leu)
c.3101A>T (p.His1034Leu)
c.3062A>T (p.His1021Leu)
c.3452A>T (p.His1151Leu)
c.3359A>T (p.His1120Leu)
c.2834A>T (p.His945Leu)
c.3149A>T (p.His1050Leu)
n.7721A>T
3g.9473379T>ACA351685853SETD5n.1809T>A
c.3435T>A (p.His1145Gln)
n.3843T>A
n.908T>A
n.4414T>A
n.4770T>A
c.3339T>A (p.His1113Gln)
c.*3485T>A (n.*3485T>A)
c.*3408T>A (n.*3408T>A)
c.*3713T>A (n.*3713T>A)
c.*3444T>A (n.*3444T>A)
c.3045T>A (p.His1015Gln)
c.2341T>A
c.3396T>A (p.His1132Gln)
c.2375T>A
n.2680T>A
n.407T>A
n.144T>A
n.3503T>A
c.3513T>A (p.His1171Gln)
c.3492T>A (p.His1164Gln)
c.3474T>A (p.His1158Gln)
c.3456T>A (p.His1152Gln)
c.3417T>A (p.His1139Gln)
c.3378T>A (p.His1126Gln)
c.3102T>A (p.His1034Gln)
c.3063T>A (p.His1021Gln)
c.3453T>A (p.His1151Gln)
c.3360T>A (p.His1120Gln)
c.2835T>A (p.His945Gln)
c.3150T>A (p.His1050Gln)
n.7722T>A
3g.9473379T>CCA432365795SETD5n.1809T>C
c.3435T>C (p.His1145=)
n.3843T>C
n.908T>C
n.4414T>C
n.4770T>C
c.3339T>C (p.His1113=)
c.*3485T>C (n.*3485T>C)
c.*3408T>C (n.*3408T>C)
c.*3713T>C (n.*3713T>C)
c.*3444T>C (n.*3444T>C)
c.3045T>C (p.His1015=)
c.2341T>C
c.3396T>C (p.His1132=)
c.2375T>C
n.2680T>C
n.407T>C
n.144T>C
n.3503T>C
c.3513T>C (p.His1171=)
c.3492T>C (p.His1164=)
c.3474T>C (p.His1158=)
c.3456T>C (p.His1152=)
c.3417T>C (p.His1139=)
c.3378T>C (p.His1126=)
c.3102T>C (p.His1034=)
c.3063T>C (p.His1021=)
c.3453T>C (p.His1151=)
c.3360T>C (p.His1120=)
c.2835T>C (p.His945=)
c.3150T>C (p.His1050=)
n.7722T>C
3g.9473379T>GCA351685855SETD5n.1809T>G
c.3435T>G (p.His1145Gln)
n.3843T>G
n.908T>G
n.4414T>G
n.4770T>G
c.3339T>G (p.His1113Gln)
c.*3485T>G (n.*3485T>G)
c.*3408T>G (n.*3408T>G)
c.*3713T>G (n.*3713T>G)
c.*3444T>G (n.*3444T>G)
c.3045T>G (p.His1015Gln)
c.2341T>G
c.3396T>G (p.His1132Gln)
c.2375T>G
n.2680T>G
n.407T>G
n.144T>G
n.3503T>G
c.3513T>G (p.His1171Gln)
c.3492T>G (p.His1164Gln)
c.3474T>G (p.His1158Gln)
c.3456T>G (p.His1152Gln)
c.3417T>G (p.His1139Gln)
c.3378T>G (p.His1126Gln)
c.3102T>G (p.His1034Gln)
c.3063T>G (p.His1021Gln)
c.3453T>G (p.His1151Gln)
c.3360T>G (p.His1120Gln)
c.2835T>G (p.His945Gln)
c.3150T>G (p.His1050Gln)
n.7722T>G
3g.9473380G>ACA351685860SETD5n.1810G>A
c.3436G>A (p.Gly1146Ser)
n.3844G>A
n.909G>A
n.4415G>A
n.4771G>A
c.3340G>A (p.Gly1114Ser)
c.*3486G>A (n.*3486G>A)
c.*3409G>A (n.*3409G>A)
c.*3714G>A (n.*3714G>A)
c.*3445G>A (n.*3445G>A)
c.3046G>A (p.Gly1016Ser)
c.2342G>A
c.3397G>A (p.Gly1133Ser)
c.2376G>A
n.2681G>A
n.408G>A
n.145G>A
n.3504G>A
c.3514G>A (p.Gly1172Ser)
c.3493G>A (p.Gly1165Ser)
c.3475G>A (p.Gly1159Ser)
c.3457G>A (p.Gly1153Ser)
c.3418G>A (p.Gly1140Ser)
c.3379G>A (p.Gly1127Ser)
c.3103G>A (p.Gly1035Ser)
c.3064G>A (p.Gly1022Ser)
c.3454G>A (p.Gly1152Ser)
c.3361G>A (p.Gly1121Ser)
c.2836G>A (p.Gly946Ser)
c.3151G>A (p.Gly1051Ser)
n.7723G>A
 gnomAD v4
3g.9473380G>CCA351685864SETD5n.1810G>C
c.3436G>C (p.Gly1146Arg)
n.3844G>C
n.909G>C
n.4415G>C
n.4771G>C
c.3340G>C (p.Gly1114Arg)
c.*3486G>C (n.*3486G>C)
c.*3409G>C (n.*3409G>C)
c.*3714G>C (n.*3714G>C)
c.*3445G>C (n.*3445G>C)
c.3046G>C (p.Gly1016Arg)
c.2342G>C
c.3397G>C (p.Gly1133Arg)
c.2376G>C
n.2681G>C
n.408G>C
n.145G>C
n.3504G>C
c.3514G>C (p.Gly1172Arg)
c.3493G>C (p.Gly1165Arg)
c.3475G>C (p.Gly1159Arg)
c.3457G>C (p.Gly1153Arg)
c.3418G>C (p.Gly1140Arg)
c.3379G>C (p.Gly1127Arg)
c.3103G>C (p.Gly1035Arg)
c.3064G>C (p.Gly1022Arg)
c.3454G>C (p.Gly1152Arg)
c.3361G>C (p.Gly1121Arg)
c.2836G>C (p.Gly946Arg)
c.3151G>C (p.Gly1051Arg)
n.7723G>C
3g.9473380G>TCA351685867SETD5n.1810G>T
c.3436G>T (p.Gly1146Cys)
n.3844G>T
n.909G>T
n.4415G>T
n.4771G>T
c.3340G>T (p.Gly1114Cys)
c.*3486G>T (n.*3486G>T)
c.*3409G>T (n.*3409G>T)
c.*3714G>T (n.*3714G>T)
c.*3445G>T (n.*3445G>T)
c.3046G>T (p.Gly1016Cys)
c.2342G>T
c.3397G>T (p.Gly1133Cys)
c.2376G>T
n.2681G>T
n.408G>T
n.145G>T
n.3504G>T
c.3514G>T (p.Gly1172Cys)
c.3493G>T (p.Gly1165Cys)
c.3475G>T (p.Gly1159Cys)
c.3457G>T (p.Gly1153Cys)
c.3418G>T (p.Gly1140Cys)
c.3379G>T (p.Gly1127Cys)
c.3103G>T (p.Gly1035Cys)
c.3064G>T (p.Gly1022Cys)
c.3454G>T (p.Gly1152Cys)
c.3361G>T (p.Gly1121Cys)
c.2836G>T (p.Gly946Cys)
c.3151G>T (p.Gly1051Cys)
n.7723G>T
3g.9473381G>ACA2239671SETD5n.1811G>A
c.3437G>A (p.Gly1146Asp)
n.3845G>A
n.910G>A
n.4416G>A
n.4772G>A
c.3341G>A (p.Gly1114Asp)
c.*3487G>A (n.*3487G>A)
c.*3410G>A (n.*3410G>A)
c.*3715G>A (n.*3715G>A)
c.*3446G>A (n.*3446G>A)
c.3047G>A (p.Gly1016Asp)
c.2343G>A
c.3398G>A (p.Gly1133Asp)
c.2377G>A
n.2682G>A
n.409G>A
n.146G>A
n.3505G>A
c.3515G>A (p.Gly1172Asp)
c.3494G>A (p.Gly1165Asp)
c.3476G>A (p.Gly1159Asp)
c.3458G>A (p.Gly1153Asp)
c.3419G>A (p.Gly1140Asp)
c.3380G>A (p.Gly1127Asp)
c.3104G>A (p.Gly1035Asp)
c.3065G>A (p.Gly1022Asp)
c.3455G>A (p.Gly1152Asp)
c.3362G>A (p.Gly1121Asp)
c.2837G>A (p.Gly946Asp)
c.3152G>A (p.Gly1051Asp)
n.7724G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9473381G>CCA351685880SETD5n.1811G>C
c.3437G>C (p.Gly1146Ala)
n.3845G>C
n.910G>C
n.4416G>C
n.4772G>C
c.3341G>C (p.Gly1114Ala)
c.*3487G>C (n.*3487G>C)
c.*3410G>C (n.*3410G>C)
c.*3715G>C (n.*3715G>C)
c.*3446G>C (n.*3446G>C)
c.3047G>C (p.Gly1016Ala)
c.2343G>C
c.3398G>C (p.Gly1133Ala)
c.2377G>C
n.2682G>C
n.409G>C
n.146G>C
n.3505G>C
c.3515G>C (p.Gly1172Ala)
c.3494G>C (p.Gly1165Ala)
c.3476G>C (p.Gly1159Ala)
c.3458G>C (p.Gly1153Ala)
c.3419G>C (p.Gly1140Ala)
c.3380G>C (p.Gly1127Ala)
c.3104G>C (p.Gly1035Ala)
c.3065G>C (p.Gly1022Ala)
c.3455G>C (p.Gly1152Ala)
c.3362G>C (p.Gly1121Ala)
c.2837G>C (p.Gly946Ala)
c.3152G>C (p.Gly1051Ala)
n.7724G>C
3g.9473381G=CA1344740233SETD5n.1811G=
c.3437G= (p.Gly1146=)
n.3845G=
n.910G=
n.4416G=
n.4772G=
c.3341G= (p.Gly1114=)
c.*3487G= (n.*3487G=)
c.*3410G= (n.*3410G=)
c.*3715G= (n.*3715G=)
c.*3446G= (n.*3446G=)
c.3047G= (p.Gly1016=)
c.2343G=
c.3398G= (p.Gly1133=)
c.2377G=
n.2682G=
n.409G=
n.146G=
n.3505G=
c.3515G= (p.Gly1172=)
c.3494G= (p.Gly1165=)
c.3476G= (p.Gly1159=)
c.3458G= (p.Gly1153=)
c.3419G= (p.Gly1140=)
c.3380G= (p.Gly1127=)
c.3104G= (p.Gly1035=)
c.3065G= (p.Gly1022=)
c.3455G= (p.Gly1152=)
c.3362G= (p.Gly1121=)
c.2837G= (p.Gly946=)
c.3152G= (p.Gly1051=)
n.7724G=
3g.9473381G>TCA2239672SETD5n.1811G>T
c.3437G>T (p.Gly1146Val)
n.3845G>T
n.910G>T
n.4416G>T
n.4772G>T
c.3341G>T (p.Gly1114Val)
c.*3487G>T (n.*3487G>T)
c.*3410G>T (n.*3410G>T)
c.*3715G>T (n.*3715G>T)
c.*3446G>T (n.*3446G>T)
c.3047G>T (p.Gly1016Val)
c.2343G>T
c.3398G>T (p.Gly1133Val)
c.2377G>T
n.2682G>T
n.409G>T
n.146G>T
n.3505G>T
c.3515G>T (p.Gly1172Val)
c.3494G>T (p.Gly1165Val)
c.3476G>T (p.Gly1159Val)
c.3458G>T (p.Gly1153Val)
c.3419G>T (p.Gly1140Val)
c.3380G>T (p.Gly1127Val)
c.3104G>T (p.Gly1035Val)
c.3065G>T (p.Gly1022Val)
c.3455G>T (p.Gly1152Val)
c.3362G>T (p.Gly1121Val)
c.2837G>T (p.Gly946Val)
c.3152G>T (p.Gly1051Val)
n.7724G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9473382T>ACA432365796SETD5n.1812T>A
c.3438T>A (p.Gly1146=)
n.3846T>A
n.911T>A
n.4417T>A
n.4773T>A
c.3342T>A (p.Gly1114=)
c.*3488T>A (n.*3488T>A)
c.*3411T>A (n.*3411T>A)
c.*3716T>A (n.*3716T>A)
c.*3447T>A (n.*3447T>A)
c.3048T>A (p.Gly1016=)
c.2344T>A
c.3399T>A (p.Gly1133=)
c.2378T>A
n.2683T>A
n.410T>A
n.147T>A
n.3506T>A
c.3516T>A (p.Gly1172=)
c.3495T>A (p.Gly1165=)
c.3477T>A (p.Gly1159=)
c.3459T>A (p.Gly1153=)
c.3420T>A (p.Gly1140=)
c.3381T>A (p.Gly1127=)
c.3105T>A (p.Gly1035=)
c.3066T>A (p.Gly1022=)
c.3456T>A (p.Gly1152=)
c.3363T>A (p.Gly1121=)
c.2838T>A (p.Gly946=)
c.3153T>A (p.Gly1051=)
n.7725T>A
3g.9473382T>CCA432365797SETD5n.1812T>C
c.3438T>C (p.Gly1146=)
n.3846T>C
n.911T>C
n.4417T>C
n.4773T>C
c.3342T>C (p.Gly1114=)
c.*3488T>C (n.*3488T>C)
c.*3411T>C (n.*3411T>C)
c.*3716T>C (n.*3716T>C)
c.*3447T>C (n.*3447T>C)
c.3048T>C (p.Gly1016=)
c.2344T>C
c.3399T>C (p.Gly1133=)
c.2378T>C
n.2683T>C
n.410T>C
n.147T>C
n.3506T>C
c.3516T>C (p.Gly1172=)
c.3495T>C (p.Gly1165=)
c.3477T>C (p.Gly1159=)
c.3459T>C (p.Gly1153=)
c.3420T>C (p.Gly1140=)
c.3381T>C (p.Gly1127=)
c.3105T>C (p.Gly1035=)
c.3066T>C (p.Gly1022=)
c.3456T>C (p.Gly1152=)
c.3363T>C (p.Gly1121=)
c.2838T>C (p.Gly946=)
c.3153T>C (p.Gly1051=)
n.7725T>C
3g.9473382T>GCA432365798SETD5n.1812T>G
c.3438T>G (p.Gly1146=)
n.3846T>G
n.911T>G
n.4417T>G
n.4773T>G
c.3342T>G (p.Gly1114=)
c.*3488T>G (n.*3488T>G)
c.*3411T>G (n.*3411T>G)
c.*3716T>G (n.*3716T>G)
c.*3447T>G (n.*3447T>G)
c.3048T>G (p.Gly1016=)
c.2344T>G
c.3399T>G (p.Gly1133=)
c.2378T>G
n.2683T>G
n.410T>G
n.147T>G
n.3506T>G
c.3516T>G (p.Gly1172=)
c.3495T>G (p.Gly1165=)
c.3477T>G (p.Gly1159=)
c.3459T>G (p.Gly1153=)
c.3420T>G (p.Gly1140=)
c.3381T>G (p.Gly1127=)
c.3105T>G (p.Gly1035=)
c.3066T>G (p.Gly1022=)
c.3456T>G (p.Gly1152=)
c.3363T>G (p.Gly1121=)
c.2838T>G (p.Gly946=)
c.3153T>G (p.Gly1051=)
n.7725T>G
3g.9473383G>ACA2239673SETD5n.1813G>A
c.3439G>A (p.Val1147Met)
n.3847G>A
n.912G>A
n.4418G>A
n.4774G>A
c.3343G>A (p.Val1115Met)
c.*3489G>A (n.*3489G>A)
c.*3412G>A (n.*3412G>A)
c.*3717G>A (n.*3717G>A)
c.*3448G>A (n.*3448G>A)
c.3049G>A (p.Val1017Met)
c.2345G>A
c.3400G>A (p.Val1134Met)
c.2379G>A
n.2684G>A
n.411G>A
n.148G>A
n.3507G>A
c.3517G>A (p.Val1173Met)
c.3496G>A (p.Val1166Met)
c.3478G>A (p.Val1160Met)
c.3460G>A (p.Val1154Met)
c.3421G>A (p.Val1141Met)
c.3382G>A (p.Val1128Met)
c.3106G>A (p.Val1036Met)
c.3067G>A (p.Val1023Met)
c.3457G>A (p.Val1153Met)
c.3364G>A (p.Val1122Met)
c.2839G>A (p.Val947Met)
c.3154G>A (p.Val1052Met)
n.7726G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.9473383G>CCA351685891SETD5n.1813G>C
c.3439G>C (p.Val1147Leu)
n.3847G>C
n.912G>C
n.4418G>C
n.4774G>C
c.3343G>C (p.Val1115Leu)
c.*3489G>C (n.*3489G>C)
c.*3412G>C (n.*3412G>C)
c.*3717G>C (n.*3717G>C)
c.*3448G>C (n.*3448G>C)
c.3049G>C (p.Val1017Leu)
c.2345G>C
c.3400G>C (p.Val1134Leu)
c.2379G>C
n.2684G>C
n.411G>C
n.148G>C
n.3507G>C
c.3517G>C (p.Val1173Leu)
c.3496G>C (p.Val1166Leu)
c.3478G>C (p.Val1160Leu)
c.3460G>C (p.Val1154Leu)
c.3421G>C (p.Val1141Leu)
c.3382G>C (p.Val1128Leu)
c.3106G>C (p.Val1036Leu)
c.3067G>C (p.Val1023Leu)
c.3457G>C (p.Val1153Leu)
c.3364G>C (p.Val1122Leu)
c.2839G>C (p.Val947Leu)
c.3154G>C (p.Val1052Leu)
n.7726G>C
3g.9473383G=CA1344740238SETD5n.1813G=
c.3439G= (p.Val1147=)
n.3847G=
n.912G=
n.4418G=
n.4774G=
c.3343G= (p.Val1115=)
c.*3489G= (n.*3489G=)
c.*3412G= (n.*3412G=)
c.*3717G= (n.*3717G=)
c.*3448G= (n.*3448G=)
c.3049G= (p.Val1017=)
c.2345G=
c.3400G= (p.Val1134=)
c.2379G=
n.2684G=
n.411G=
n.148G=
n.3507G=
c.3517G= (p.Val1173=)
c.3496G= (p.Val1166=)
c.3478G= (p.Val1160=)
c.3460G= (p.Val1154=)
c.3421G= (p.Val1141=)
c.3382G= (p.Val1128=)
c.3106G= (p.Val1036=)
c.3067G= (p.Val1023=)
c.3457G= (p.Val1153=)
c.3364G= (p.Val1122=)
c.2839G= (p.Val947=)
c.3154G= (p.Val1052=)
n.7726G=
3g.9473383G>TCA351685888SETD5n.1813G>T
c.3439G>T (p.Val1147Leu)
n.3847G>T
n.912G>T
n.4418G>T
n.4774G>T
c.3343G>T (p.Val1115Leu)
c.*3489G>T (n.*3489G>T)
c.*3412G>T (n.*3412G>T)
c.*3717G>T (n.*3717G>T)
c.*3448G>T (n.*3448G>T)
c.3049G>T (p.Val1017Leu)
c.2345G>T
c.3400G>T (p.Val1134Leu)
c.2379G>T
n.2684G>T
n.411G>T
n.148G>T
n.3507G>T
c.3517G>T (p.Val1173Leu)
c.3496G>T (p.Val1166Leu)
c.3478G>T (p.Val1160Leu)
c.3460G>T (p.Val1154Leu)
c.3421G>T (p.Val1141Leu)
c.3382G>T (p.Val1128Leu)
c.3106G>T (p.Val1036Leu)
c.3067G>T (p.Val1023Leu)
c.3457G>T (p.Val1153Leu)
c.3364G>T (p.Val1122Leu)
c.2839G>T (p.Val947Leu)
c.3154G>T (p.Val1052Leu)
n.7726G>T
 COSMIC COSMIC
3g.9473384T>ACA351685895SETD5n.1814T>A
c.3440T>A (p.Val1147Glu)
n.3848T>A
n.913T>A
n.4419T>A
n.4775T>A
c.3344T>A (p.Val1115Glu)
c.*3490T>A (n.*3490T>A)
c.*3413T>A (n.*3413T>A)
c.*3718T>A (n.*3718T>A)
c.*3449T>A (n.*3449T>A)
c.3050T>A (p.Val1017Glu)
c.2346T>A
c.3401T>A (p.Val1134Glu)
c.2380T>A
n.2685T>A
n.412T>A
n.149T>A
n.3508T>A
c.3518T>A (p.Val1173Glu)
c.3497T>A (p.Val1166Glu)
c.3479T>A (p.Val1160Glu)
c.3461T>A (p.Val1154Glu)
c.3422T>A (p.Val1141Glu)
c.3383T>A (p.Val1128Glu)
c.3107T>A (p.Val1036Glu)
c.3068T>A (p.Val1023Glu)
c.3458T>A (p.Val1153Glu)
c.3365T>A (p.Val1122Glu)
c.2840T>A (p.Val947Glu)
c.3155T>A (p.Val1052Glu)
n.7727T>A
3g.9473384T>CCA351685898SETD5n.1814T>C
c.3440T>C (p.Val1147Ala)
n.3848T>C
n.913T>C
n.4419T>C
n.4775T>C
c.3344T>C (p.Val1115Ala)
c.*3490T>C (n.*3490T>C)
c.*3413T>C (n.*3413T>C)
c.*3718T>C (n.*3718T>C)
c.*3449T>C (n.*3449T>C)
c.3050T>C (p.Val1017Ala)
c.2346T>C
c.3401T>C (p.Val1134Ala)
c.2380T>C
n.2685T>C
n.412T>C
n.149T>C
n.3508T>C
c.3518T>C (p.Val1173Ala)
c.3497T>C (p.Val1166Ala)
c.3479T>C (p.Val1160Ala)
c.3461T>C (p.Val1154Ala)
c.3422T>C (p.Val1141Ala)
c.3383T>C (p.Val1128Ala)
c.3107T>C (p.Val1036Ala)
c.3068T>C (p.Val1023Ala)
c.3458T>C (p.Val1153Ala)
c.3365T>C (p.Val1122Ala)
c.2840T>C (p.Val947Ala)
c.3155T>C (p.Val1052Ala)
n.7727T>C
3g.9473384T>GCA351685905SETD5n.1814T>G
c.3440T>G (p.Val1147Gly)
n.3848T>G
n.913T>G
n.4419T>G
n.4775T>G
c.3344T>G (p.Val1115Gly)
c.*3490T>G (n.*3490T>G)
c.*3413T>G (n.*3413T>G)
c.*3718T>G (n.*3718T>G)
c.*3449T>G (n.*3449T>G)
c.3050T>G (p.Val1017Gly)
c.2346T>G
c.3401T>G (p.Val1134Gly)
c.2380T>G
n.2685T>G
n.412T>G
n.149T>G
n.3508T>G
c.3518T>G (p.Val1173Gly)
c.3497T>G (p.Val1166Gly)
c.3479T>G (p.Val1160Gly)
c.3461T>G (p.Val1154Gly)
c.3422T>G (p.Val1141Gly)
c.3383T>G (p.Val1128Gly)
c.3107T>G (p.Val1036Gly)
c.3068T>G (p.Val1023Gly)
c.3458T>G (p.Val1153Gly)
c.3365T>G (p.Val1122Gly)
c.2840T>G (p.Val947Gly)
c.3155T>G (p.Val1052Gly)
n.7727T>G
3g.9473385G>ACA2239674SETD5n.1815G>A
c.3441G>A (p.Val1147=)
n.3849G>A
n.914G>A
n.4420G>A
n.4776G>A
c.3345G>A (p.Val1115=)
c.*3491G>A (n.*3491G>A)
c.*3414G>A (n.*3414G>A)
c.*3719G>A (n.*3719G>A)
c.*3450G>A (n.*3450G>A)
c.3051G>A (p.Val1017=)
c.2347G>A
c.3402G>A (p.Val1134=)
c.2381G>A
n.2686G>A
n.413G>A
n.150G>A
n.3509G>A
c.3519G>A (p.Val1173=)
c.3498G>A (p.Val1166=)
c.3480G>A (p.Val1160=)
c.3462G>A (p.Val1154=)
c.3423G>A (p.Val1141=)
c.3384G>A (p.Val1128=)
c.3108G>A (p.Val1036=)
c.3069G>A (p.Val1023=)
c.3459G>A (p.Val1153=)
c.3366G>A (p.Val1122=)
c.2841G>A (p.Val947=)
c.3156G>A (p.Val1052=)
n.7728G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9473385G>CCA432365799SETD5n.1815G>C
c.3441G>C (p.Val1147=)
n.3849G>C
n.914G>C
n.4420G>C
n.4776G>C
c.3345G>C (p.Val1115=)
c.*3491G>C (n.*3491G>C)
c.*3414G>C (n.*3414G>C)
c.*3719G>C (n.*3719G>C)
c.*3450G>C (n.*3450G>C)
c.3051G>C (p.Val1017=)
c.2347G>C
c.3402G>C (p.Val1134=)
c.2381G>C
n.2686G>C
n.413G>C
n.150G>C
n.3509G>C
c.3519G>C (p.Val1173=)
c.3498G>C (p.Val1166=)
c.3480G>C (p.Val1160=)
c.3462G>C (p.Val1154=)
c.3423G>C (p.Val1141=)
c.3384G>C (p.Val1128=)
c.3108G>C (p.Val1036=)
c.3069G>C (p.Val1023=)
c.3459G>C (p.Val1153=)
c.3366G>C (p.Val1122=)
c.2841G>C (p.Val947=)
c.3156G>C (p.Val1052=)
n.7728G>C
3g.9473385G=CA1344740245SETD5n.1815G=
c.3441G= (p.Val1147=)
n.3849G=
n.914G=
n.4420G=
n.4776G=
c.3345G= (p.Val1115=)
c.*3491G= (n.*3491G=)
c.*3414G= (n.*3414G=)
c.*3719G= (n.*3719G=)
c.*3450G= (n.*3450G=)
c.3051G= (p.Val1017=)
c.2347G=
c.3402G= (p.Val1134=)
c.2381G=
n.2686G=
n.413G=
n.150G=
n.3509G=
c.3519G= (p.Val1173=)
c.3498G= (p.Val1166=)
c.3480G= (p.Val1160=)
c.3462G= (p.Val1154=)
c.3423G= (p.Val1141=)
c.3384G= (p.Val1128=)
c.3108G= (p.Val1036=)
c.3069G= (p.Val1023=)
c.3459G= (p.Val1153=)
c.3366G= (p.Val1122=)
c.2841G= (p.Val947=)
c.3156G= (p.Val1052=)
n.7728G=
3g.9473385G>TCA432365800SETD5n.1815G>T
c.3441G>T (p.Val1147=)
n.3849G>T
n.914G>T
n.4420G>T
n.4776G>T
c.3345G>T (p.Val1115=)
c.*3491G>T (n.*3491G>T)
c.*3414G>T (n.*3414G>T)
c.*3719G>T (n.*3719G>T)
c.*3450G>T (n.*3450G>T)
c.3051G>T (p.Val1017=)
c.2347G>T
c.3402G>T (p.Val1134=)
c.2381G>T
n.2686G>T
n.413G>T
n.150G>T
n.3509G>T
c.3519G>T (p.Val1173=)
c.3498G>T (p.Val1166=)
c.3480G>T (p.Val1160=)
c.3462G>T (p.Val1154=)
c.3423G>T (p.Val1141=)
c.3384G>T (p.Val1128=)
c.3108G>T (p.Val1036=)
c.3069G>T (p.Val1023=)
c.3459G>T (p.Val1153=)
c.3366G>T (p.Val1122=)
c.2841G>T (p.Val947=)
c.3156G>T (p.Val1052=)
n.7728G>T
 dbSNP gnomAD v4
3g.9473386C>ACA351685913SETD5n.1816C>A
c.3442C>A (p.Gln1148Lys)
n.3850C>A
n.915C>A
n.4421C>A
n.4777C>A
c.3346C>A (p.Gln1116Lys)
c.*3492C>A (n.*3492C>A)
c.*3415C>A (n.*3415C>A)
c.*3720C>A (n.*3720C>A)
c.*3451C>A (n.*3451C>A)
c.3052C>A (p.Gln1018Lys)
c.2348C>A
c.3403C>A (p.Gln1135Lys)
c.2382C>A
n.2687C>A
n.414C>A
n.151C>A
n.3510C>A
c.3520C>A (p.Gln1174Lys)
c.3499C>A (p.Gln1167Lys)
c.3481C>A (p.Gln1161Lys)
c.3463C>A (p.Gln1155Lys)
c.3424C>A (p.Gln1142Lys)
c.3385C>A (p.Gln1129Lys)
c.3109C>A (p.Gln1037Lys)
c.3070C>A (p.Gln1024Lys)
c.3460C>A (p.Gln1154Lys)
c.3367C>A (p.Gln1123Lys)
c.2842C>A (p.Gln948Lys)
c.3157C>A (p.Gln1053Lys)
n.7729C>A
3g.9473386C>GCA351685919SETD5n.1816C>G
c.3442C>G (p.Gln1148Glu)
n.3850C>G
n.915C>G
n.4421C>G
n.4777C>G
c.3346C>G (p.Gln1116Glu)
c.*3492C>G (n.*3492C>G)
c.*3415C>G (n.*3415C>G)
c.*3720C>G (n.*3720C>G)
c.*3451C>G (n.*3451C>G)
c.3052C>G (p.Gln1018Glu)
c.2348C>G
c.3403C>G (p.Gln1135Glu)
c.2382C>G
n.2687C>G
n.414C>G
n.151C>G
n.3510C>G
c.3520C>G (p.Gln1174Glu)
c.3499C>G (p.Gln1167Glu)
c.3481C>G (p.Gln1161Glu)
c.3463C>G (p.Gln1155Glu)
c.3424C>G (p.Gln1142Glu)
c.3385C>G (p.Gln1129Glu)
c.3109C>G (p.Gln1037Glu)
c.3070C>G (p.Gln1024Glu)
c.3460C>G (p.Gln1154Glu)
c.3367C>G (p.Gln1123Glu)
c.2842C>G (p.Gln948Glu)
c.3157C>G (p.Gln1053Glu)
n.7729C>G
3g.9473386C>TCA351685915SETD5n.1816C>T
c.3442C>T (p.Gln1148Ter)
n.3850C>T
n.915C>T
n.4421C>T
n.4777C>T
c.3346C>T (p.Gln1116Ter)
c.*3492C>T (n.*3492C>T)
c.*3415C>T (n.*3415C>T)
c.*3720C>T (n.*3720C>T)
c.*3451C>T (n.*3451C>T)
c.3052C>T (p.Gln1018Ter)
c.2348C>T
c.3403C>T (p.Gln1135Ter)
c.2382C>T
n.2687C>T
n.414C>T
n.151C>T
n.3510C>T
c.3520C>T (p.Gln1174Ter)
c.3499C>T (p.Gln1167Ter)
c.3481C>T (p.Gln1161Ter)
c.3463C>T (p.Gln1155Ter)
c.3424C>T (p.Gln1142Ter)
c.3385C>T (p.Gln1129Ter)
c.3109C>T (p.Gln1037Ter)
c.3070C>T (p.Gln1024Ter)
c.3460C>T (p.Gln1154Ter)
c.3367C>T (p.Gln1123Ter)
c.2842C>T (p.Gln948Ter)
c.3157C>T (p.Gln1053Ter)
n.7729C>T
3g.9473387A=CA1344740248SETD5n.1817A=
c.3443A= (p.Gln1148=)
n.3851A=
n.916A=
n.4422A=
n.4778A=
c.3347A= (p.Gln1116=)
c.*3493A= (n.*3493A=)
c.*3416A= (n.*3416A=)
c.*3721A= (n.*3721A=)
c.*3452A= (n.*3452A=)
c.3053A= (p.Gln1018=)
c.2349A=
c.3404A= (p.Gln1135=)
c.2383A=
n.2688A=
n.415A=
n.152A=
n.3511A=
c.3521A= (p.Gln1174=)
c.3500A= (p.Gln1167=)
c.3482A= (p.Gln1161=)
c.3464A= (p.Gln1155=)
c.3425A= (p.Gln1142=)
c.3386A= (p.Gln1129=)
c.3110A= (p.Gln1037=)
c.3071A= (p.Gln1024=)
c.3461A= (p.Gln1154=)
c.3368A= (p.Gln1123=)
c.2843A= (p.Gln948=)
c.3158A= (p.Gln1053=)
n.7730A=
3g.9473387A>CCA351685923SETD5n.1817A>C
c.3443A>C (p.Gln1148Pro)
n.3851A>C
n.916A>C
n.4422A>C
n.4778A>C
c.3347A>C (p.Gln1116Pro)
c.*3493A>C (n.*3493A>C)
c.*3416A>C (n.*3416A>C)
c.*3721A>C (n.*3721A>C)
c.*3452A>C (n.*3452A>C)
c.3053A>C (p.Gln1018Pro)
c.2349A>C
c.3404A>C (p.Gln1135Pro)
c.2383A>C
n.2688A>C
n.415A>C
n.152A>C
n.3511A>C
c.3521A>C (p.Gln1174Pro)
c.3500A>C (p.Gln1167Pro)
c.3482A>C (p.Gln1161Pro)
c.3464A>C (p.Gln1155Pro)
c.3425A>C (p.Gln1142Pro)
c.3386A>C (p.Gln1129Pro)
c.3110A>C (p.Gln1037Pro)
c.3071A>C (p.Gln1024Pro)
c.3461A>C (p.Gln1154Pro)
c.3368A>C (p.Gln1123Pro)
c.2843A>C (p.Gln948Pro)
c.3158A>C (p.Gln1053Pro)
n.7730A>C
3g.9473387A>GCA2239675SETD5n.1817A>G
c.3443A>G (p.Gln1148Arg)
n.3851A>G
n.916A>G
n.4422A>G
n.4778A>G
c.3347A>G (p.Gln1116Arg)
c.*3493A>G (n.*3493A>G)
c.*3416A>G (n.*3416A>G)
c.*3721A>G (n.*3721A>G)
c.*3452A>G (n.*3452A>G)
c.3053A>G (p.Gln1018Arg)
c.2349A>G
c.3404A>G (p.Gln1135Arg)
c.2383A>G
n.2688A>G
n.415A>G
n.152A>G
n.3511A>G
c.3521A>G (p.Gln1174Arg)
c.3500A>G (p.Gln1167Arg)
c.3482A>G (p.Gln1161Arg)
c.3464A>G (p.Gln1155Arg)
c.3425A>G (p.Gln1142Arg)
c.3386A>G (p.Gln1129Arg)
c.3110A>G (p.Gln1037Arg)
c.3071A>G (p.Gln1024Arg)
c.3461A>G (p.Gln1154Arg)
c.3368A>G (p.Gln1123Arg)
c.2843A>G (p.Gln948Arg)
c.3158A>G (p.Gln1053Arg)
n.7730A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.9473387A>TCA351685929SETD5n.1817A>T
c.3443A>T (p.Gln1148Leu)
n.3851A>T
n.916A>T
n.4422A>T
n.4778A>T
c.3347A>T (p.Gln1116Leu)
c.*3493A>T (n.*3493A>T)
c.*3416A>T (n.*3416A>T)
c.*3721A>T (n.*3721A>T)
c.*3452A>T (n.*3452A>T)
c.3053A>T (p.Gln1018Leu)
c.2349A>T
c.3404A>T (p.Gln1135Leu)
c.2383A>T
n.2688A>T
n.415A>T
n.152A>T
n.3511A>T
c.3521A>T (p.Gln1174Leu)
c.3500A>T (p.Gln1167Leu)
c.3482A>T (p.Gln1161Leu)
c.3464A>T (p.Gln1155Leu)
c.3425A>T (p.Gln1142Leu)
c.3386A>T (p.Gln1129Leu)
c.3110A>T (p.Gln1037Leu)
c.3071A>T (p.Gln1024Leu)
c.3461A>T (p.Gln1154Leu)
c.3368A>T (p.Gln1123Leu)
c.2843A>T (p.Gln948Leu)
c.3158A>T (p.Gln1053Leu)
n.7730A>T
3g.9473388G>ACA2239676SETD5n.1818G>A
c.3444G>A (p.Gln1148=)
n.3852G>A
n.917G>A
n.4423G>A
n.4779G>A
c.3348G>A (p.Gln1116=)
c.*3494G>A (n.*3494G>A)
c.*3417G>A (n.*3417G>A)
c.*3722G>A (n.*3722G>A)
c.*3453G>A (n.*3453G>A)
c.3054G>A (p.Gln1018=)
c.2350G>A
c.3405G>A (p.Gln1135=)
c.2384G>A
n.2689G>A
n.416G>A
n.153G>A
n.3512G>A
c.3522G>A (p.Gln1174=)
c.3501G>A (p.Gln1167=)
c.3483G>A (p.Gln1161=)
c.3465G>A (p.Gln1155=)
c.3426G>A (p.Gln1142=)
c.3387G>A (p.Gln1129=)
c.3111G>A (p.Gln1037=)
c.3072G>A (p.Gln1024=)
c.3462G>A (p.Gln1154=)
c.3369G>A (p.Gln1123=)
c.2844G>A (p.Gln948=)
c.3159G>A (p.Gln1053=)
n.7731G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9473388G>CCA351685935SETD5n.1818G>C
c.3444G>C (p.Gln1148His)
n.3852G>C
n.917G>C
n.4423G>C
n.4779G>C
c.3348G>C (p.Gln1116His)
c.*3494G>C (n.*3494G>C)
c.*3417G>C (n.*3417G>C)
c.*3722G>C (n.*3722G>C)
c.*3453G>C (n.*3453G>C)
c.3054G>C (p.Gln1018His)
c.2350G>C
c.3405G>C (p.Gln1135His)
c.2384G>C
n.2689G>C
n.416G>C
n.153G>C
n.3512G>C
c.3522G>C (p.Gln1174His)
c.3501G>C (p.Gln1167His)
c.3483G>C (p.Gln1161His)
c.3465G>C (p.Gln1155His)
c.3426G>C (p.Gln1142His)
c.3387G>C (p.Gln1129His)
c.3111G>C (p.Gln1037His)
c.3072G>C (p.Gln1024His)
c.3462G>C (p.Gln1154His)
c.3369G>C (p.Gln1123His)
c.2844G>C (p.Gln948His)
c.3159G>C (p.Gln1053His)
n.7731G>C
3g.9473388G=CA1344740251SETD5n.1818G=
c.3444G= (p.Gln1148=)
n.3852G=
n.917G=
n.4423G=
n.4779G=
c.3348G= (p.Gln1116=)
c.*3494G= (n.*3494G=)
c.*3417G= (n.*3417G=)
c.*3722G= (n.*3722G=)
c.*3453G= (n.*3453G=)
c.3054G= (p.Gln1018=)
c.2350G=
c.3405G= (p.Gln1135=)
c.2384G=
n.2689G=
n.416G=
n.153G=
n.3512G=
c.3522G= (p.Gln1174=)
c.3501G= (p.Gln1167=)
c.3483G= (p.Gln1161=)
c.3465G= (p.Gln1155=)
c.3426G= (p.Gln1142=)
c.3387G= (p.Gln1129=)
c.3111G= (p.Gln1037=)
c.3072G= (p.Gln1024=)
c.3462G= (p.Gln1154=)
c.3369G= (p.Gln1123=)
c.2844G= (p.Gln948=)
c.3159G= (p.Gln1053=)
n.7731G=
3g.9473388G>TCA351685937SETD5n.1818G>T
c.3444G>T (p.Gln1148His)
n.3852G>T
n.917G>T
n.4423G>T
n.4779G>T
c.3348G>T (p.Gln1116His)
c.*3494G>T (n.*3494G>T)
c.*3417G>T (n.*3417G>T)
c.*3722G>T (n.*3722G>T)
c.*3453G>T (n.*3453G>T)
c.3054G>T (p.Gln1018His)
c.2350G>T
c.3405G>T (p.Gln1135His)
c.2384G>T
n.2689G>T
n.416G>T
n.153G>T
n.3512G>T
c.3522G>T (p.Gln1174His)
c.3501G>T (p.Gln1167His)
c.3483G>T (p.Gln1161His)
c.3465G>T (p.Gln1155His)
c.3426G>T (p.Gln1142His)
c.3387G>T (p.Gln1129His)
c.3111G>T (p.Gln1037His)
c.3072G>T (p.Gln1024His)
c.3462G>T (p.Gln1154His)
c.3369G>T (p.Gln1123His)
c.2844G>T (p.Gln948His)
c.3159G>T (p.Gln1053His)
n.7731G>T
3g.9473389G>ACA351685940SETD5n.1819G>A
c.3445G>A (p.Gly1149Arg)
n.3853G>A
n.918G>A
n.4424G>A
n.4780G>A
c.3349G>A (p.Gly1117Arg)
c.*3495G>A (n.*3495G>A)
c.*3418G>A (n.*3418G>A)
c.*3723G>A (n.*3723G>A)
c.*3454G>A (n.*3454G>A)
c.3055G>A (p.Gly1019Arg)
c.2351G>A
c.3406G>A (p.Gly1136Arg)
c.2385G>A
n.2690G>A
n.417G>A
n.154G>A
n.3513G>A
c.3523G>A (p.Gly1175Arg)
c.3502G>A (p.Gly1168Arg)
c.3484G>A (p.Gly1162Arg)
c.3466G>A (p.Gly1156Arg)
c.3427G>A (p.Gly1143Arg)
c.3388G>A (p.Gly1130Arg)
c.3112G>A (p.Gly1038Arg)
c.3073G>A (p.Gly1025Arg)
c.3463G>A (p.Gly1155Arg)
c.3370G>A (p.Gly1124Arg)
c.2845G>A (p.Gly949Arg)
c.3160G>A (p.Gly1054Arg)
n.7732G>A
3g.9473389G>CCA351685942SETD5n.1819G>C
c.3445G>C (p.Gly1149Arg)
n.3853G>C
n.918G>C
n.4424G>C
n.4780G>C
c.3349G>C (p.Gly1117Arg)
c.*3495G>C (n.*3495G>C)
c.*3418G>C (n.*3418G>C)
c.*3723G>C (n.*3723G>C)
c.*3454G>C (n.*3454G>C)
c.3055G>C (p.Gly1019Arg)
c.2351G>C
c.3406G>C (p.Gly1136Arg)
c.2385G>C
n.2690G>C
n.417G>C
n.154G>C
n.3513G>C
c.3523G>C (p.Gly1175Arg)
c.3502G>C (p.Gly1168Arg)
c.3484G>C (p.Gly1162Arg)
c.3466G>C (p.Gly1156Arg)
c.3427G>C (p.Gly1143Arg)
c.3388G>C (p.Gly1130Arg)
c.3112G>C (p.Gly1038Arg)
c.3073G>C (p.Gly1025Arg)
c.3463G>C (p.Gly1155Arg)
c.3370G>C (p.Gly1124Arg)
c.2845G>C (p.Gly949Arg)
c.3160G>C (p.Gly1054Arg)
n.7732G>C
3g.9473389G>TCA351685944SETD5n.1819G>T
c.3445G>T (p.Gly1149Ter)
n.3853G>T
n.918G>T
n.4424G>T
n.4780G>T
c.3349G>T (p.Gly1117Ter)
c.*3495G>T (n.*3495G>T)
c.*3418G>T (n.*3418G>T)
c.*3723G>T (n.*3723G>T)
c.*3454G>T (n.*3454G>T)
c.3055G>T (p.Gly1019Ter)
c.2351G>T
c.3406G>T (p.Gly1136Ter)
c.2385G>T
n.2690G>T
n.417G>T
n.154G>T
n.3513G>T
c.3523G>T (p.Gly1175Ter)
c.3502G>T (p.Gly1168Ter)
c.3484G>T (p.Gly1162Ter)
c.3466G>T (p.Gly1156Ter)
c.3427G>T (p.Gly1143Ter)
c.3388G>T (p.Gly1130Ter)
c.3112G>T (p.Gly1038Ter)
c.3073G>T (p.Gly1025Ter)
c.3463G>T (p.Gly1155Ter)
c.3370G>T (p.Gly1124Ter)
c.2845G>T (p.Gly949Ter)
c.3160G>T (p.Gly1054Ter)
n.7732G>T
3g.9473390G>ACA351685946SETD5n.1820G>A
c.3446G>A (p.Gly1149Glu)
n.3854G>A
n.919G>A
n.4425G>A
n.4781G>A
c.3350G>A (p.Gly1117Glu)
c.*3496G>A (n.*3496G>A)
c.*3419G>A (n.*3419G>A)
c.*3724G>A (n.*3724G>A)
c.*3455G>A (n.*3455G>A)
c.3056G>A (p.Gly1019Glu)
c.2352G>A
c.3407G>A (p.Gly1136Glu)
c.2386G>A
n.2691G>A
n.418G>A
n.155G>A
n.3514G>A
c.3524G>A (p.Gly1175Glu)
c.3503G>A (p.Gly1168Glu)
c.3485G>A (p.Gly1162Glu)
c.3467G>A (p.Gly1156Glu)
c.3428G>A (p.Gly1143Glu)
c.3389G>A (p.Gly1130Glu)
c.3113G>A (p.Gly1038Glu)
c.3074G>A (p.Gly1025Glu)
c.3464G>A (p.Gly1155Glu)
c.3371G>A (p.Gly1124Glu)
c.2846G>A (p.Gly949Glu)
c.3161G>A (p.Gly1054Glu)
n.7733G>A
3g.9473390G>CCA351685949SETD5n.1820G>C
c.3446G>C (p.Gly1149Ala)
n.3854G>C
n.919G>C
n.4425G>C
n.4781G>C
c.3350G>C (p.Gly1117Ala)
c.*3496G>C (n.*3496G>C)
c.*3419G>C (n.*3419G>C)
c.*3724G>C (n.*3724G>C)
c.*3455G>C (n.*3455G>C)
c.3056G>C (p.Gly1019Ala)
c.2352G>C
c.3407G>C (p.Gly1136Ala)
c.2386G>C
n.2691G>C
n.418G>C
n.155G>C
n.3514G>C
c.3524G>C (p.Gly1175Ala)
c.3503G>C (p.Gly1168Ala)
c.3485G>C (p.Gly1162Ala)
c.3467G>C (p.Gly1156Ala)
c.3428G>C (p.Gly1143Ala)
c.3389G>C (p.Gly1130Ala)
c.3113G>C (p.Gly1038Ala)
c.3074G>C (p.Gly1025Ala)
c.3464G>C (p.Gly1155Ala)
c.3371G>C (p.Gly1124Ala)
c.2846G>C (p.Gly949Ala)
c.3161G>C (p.Gly1054Ala)
n.7733G>C
3g.9473390G>TCA351685951SETD5n.1820G>T
c.3446G>T (p.Gly1149Val)
n.3854G>T
n.919G>T
n.4425G>T
n.4781G>T
c.3350G>T (p.Gly1117Val)
c.*3496G>T (n.*3496G>T)
c.*3419G>T (n.*3419G>T)
c.*3724G>T (n.*3724G>T)
c.*3455G>T (n.*3455G>T)
c.3056G>T (p.Gly1019Val)
c.2352G>T
c.3407G>T (p.Gly1136Val)
c.2386G>T
n.2691G>T
n.418G>T
n.155G>T
n.3514G>T
c.3524G>T (p.Gly1175Val)
c.3503G>T (p.Gly1168Val)
c.3485G>T (p.Gly1162Val)
c.3467G>T (p.Gly1156Val)
c.3428G>T (p.Gly1143Val)
c.3389G>T (p.Gly1130Val)
c.3113G>T (p.Gly1038Val)
c.3074G>T (p.Gly1025Val)
c.3464G>T (p.Gly1155Val)
c.3371G>T (p.Gly1124Val)
c.2846G>T (p.Gly949Val)
c.3161G>T (p.Gly1054Val)
n.7733G>T
3g.9473391A=CA1344740253SETD5n.1821A=
c.3447A= (p.Gly1149=)
n.3855A=
n.920A=
n.4426A=
n.4782A=
c.3351A= (p.Gly1117=)
c.*3497A= (n.*3497A=)
c.*3420A= (n.*3420A=)
c.*3725A= (n.*3725A=)
c.*3456A= (n.*3456A=)
c.3057A= (p.Gly1019=)
c.2353A=
c.3408A= (p.Gly1136=)
c.2387A=
n.2692A=
n.419A=
n.156A=
n.3515A=
c.3525A= (p.Gly1175=)
c.3504A= (p.Gly1168=)
c.3486A= (p.Gly1162=)
c.3468A= (p.Gly1156=)
c.3429A= (p.Gly1143=)
c.3390A= (p.Gly1130=)
c.3114A= (p.Gly1038=)
c.3075A= (p.Gly1025=)
c.3465A= (p.Gly1155=)
c.3372A= (p.Gly1124=)
c.2847A= (p.Gly949=)
c.3162A= (p.Gly1054=)
n.7734A=
3g.9473391A>CCA432365803SETD5n.1821A>C
c.3447A>C (p.Gly1149=)
n.3855A>C
n.920A>C
n.4426A>C
n.4782A>C
c.3351A>C (p.Gly1117=)
c.*3497A>C (n.*3497A>C)
c.*3420A>C (n.*3420A>C)
c.*3725A>C (n.*3725A>C)
c.*3456A>C (n.*3456A>C)
c.3057A>C (p.Gly1019=)
c.2353A>C
c.3408A>C (p.Gly1136=)
c.2387A>C
n.2692A>C
n.419A>C
n.156A>C
n.3515A>C
c.3525A>C (p.Gly1175=)
c.3504A>C (p.Gly1168=)
c.3486A>C (p.Gly1162=)
c.3468A>C (p.Gly1156=)
c.3429A>C (p.Gly1143=)
c.3390A>C (p.Gly1130=)
c.3114A>C (p.Gly1038=)
c.3075A>C (p.Gly1025=)
c.3465A>C (p.Gly1155=)
c.3372A>C (p.Gly1124=)
c.2847A>C (p.Gly949=)
c.3162A>C (p.Gly1054=)
n.7734A>C
3g.9473391A>GCA432365802SETD5n.1821A>G
c.3447A>G (p.Gly1149=)
n.3855A>G
n.920A>G
n.4426A>G
n.4782A>G
c.3351A>G (p.Gly1117=)
c.*3497A>G (n.*3497A>G)
c.*3420A>G (n.*3420A>G)
c.*3725A>G (n.*3725A>G)
c.*3456A>G (n.*3456A>G)
c.3057A>G (p.Gly1019=)
c.2353A>G
c.3408A>G (p.Gly1136=)
c.2387A>G
n.2692A>G
n.419A>G
n.156A>G
n.3515A>G
c.3525A>G (p.Gly1175=)
c.3504A>G (p.Gly1168=)
c.3486A>G (p.Gly1162=)
c.3468A>G (p.Gly1156=)
c.3429A>G (p.Gly1143=)
c.3390A>G (p.Gly1130=)
c.3114A>G (p.Gly1038=)
c.3075A>G (p.Gly1025=)
c.3465A>G (p.Gly1155=)
c.3372A>G (p.Gly1124=)
c.2847A>G (p.Gly949=)
c.3162A>G (p.Gly1054=)
n.7734A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.9473391A>TCA432365801SETD5n.1821A>T
c.3447A>T (p.Gly1149=)
n.3855A>T
n.920A>T
n.4426A>T
n.4782A>T
c.3351A>T (p.Gly1117=)
c.*3497A>T (n.*3497A>T)
c.*3420A>T (n.*3420A>T)
c.*3725A>T (n.*3725A>T)
c.*3456A>T (n.*3456A>T)
c.3057A>T (p.Gly1019=)
c.2353A>T
c.3408A>T (p.Gly1136=)
c.2387A>T
n.2692A>T
n.419A>T
n.156A>T
n.3515A>T
c.3525A>T (p.Gly1175=)
c.3504A>T (p.Gly1168=)
c.3486A>T (p.Gly1162=)
c.3468A>T (p.Gly1156=)
c.3429A>T (p.Gly1143=)
c.3390A>T (p.Gly1130=)
c.3114A>T (p.Gly1038=)
c.3075A>T (p.Gly1025=)
c.3465A>T (p.Gly1155=)
c.3372A>T (p.Gly1124=)
c.2847A>T (p.Gly949=)
c.3162A>T (p.Gly1054=)
n.7734A>T
 gnomAD v4
3g.9473392T>ACA351685953SETD5n.1822T>A
c.3448T>A (p.Ser1150Thr)
n.3856T>A
n.921T>A
n.4427T>A
n.4783T>A
c.3352T>A (p.Ser1118Thr)
c.*3498T>A (n.*3498T>A)
c.*3421T>A (n.*3421T>A)
c.*3726T>A (n.*3726T>A)
c.*3457T>A (n.*3457T>A)
c.3058T>A (p.Ser1020Thr)
c.2354T>A
c.3409T>A (p.Ser1137Thr)
c.2388T>A
n.2693T>A
n.420T>A
n.157T>A
n.3516T>A
c.3526T>A (p.Ser1176Thr)
c.3505T>A (p.Ser1169Thr)
c.3487T>A (p.Ser1163Thr)
c.3469T>A (p.Ser1157Thr)
c.3430T>A (p.Ser1144Thr)
c.3391T>A (p.Ser1131Thr)
c.3115T>A (p.Ser1039Thr)
c.3076T>A (p.Ser1026Thr)
c.3466T>A (p.Ser1156Thr)
c.3373T>A (p.Ser1125Thr)
c.2848T>A (p.Ser950Thr)
c.3163T>A (p.Ser1055Thr)
n.7735T>A
3g.9473392T>CCA351685958SETD5n.1822T>C
c.3448T>C (p.Ser1150Pro)
n.3856T>C
n.921T>C
n.4427T>C
n.4783T>C
c.3352T>C (p.Ser1118Pro)
c.*3498T>C (n.*3498T>C)
c.*3421T>C (n.*3421T>C)
c.*3726T>C (n.*3726T>C)
c.*3457T>C (n.*3457T>C)
c.3058T>C (p.Ser1020Pro)
c.2354T>C
c.3409T>C (p.Ser1137Pro)
c.2388T>C
n.2693T>C
n.420T>C
n.157T>C
n.3516T>C
c.3526T>C (p.Ser1176Pro)
c.3505T>C (p.Ser1169Pro)
c.3487T>C (p.Ser1163Pro)
c.3469T>C (p.Ser1157Pro)
c.3430T>C (p.Ser1144Pro)
c.3391T>C (p.Ser1131Pro)
c.3115T>C (p.Ser1039Pro)
c.3076T>C (p.Ser1026Pro)
c.3466T>C (p.Ser1156Pro)
c.3373T>C (p.Ser1125Pro)
c.2848T>C (p.Ser950Pro)
c.3163T>C (p.Ser1055Pro)
n.7735T>C
3g.9473392T>GCA351685956SETD5n.1822T>G
c.3448T>G (p.Ser1150Ala)
n.3856T>G
n.921T>G
n.4427T>G
n.4783T>G
c.3352T>G (p.Ser1118Ala)
c.*3498T>G (n.*3498T>G)
c.*3421T>G (n.*3421T>G)
c.*3726T>G (n.*3726T>G)
c.*3457T>G (n.*3457T>G)
c.3058T>G (p.Ser1020Ala)
c.2354T>G
c.3409T>G (p.Ser1137Ala)
c.2388T>G
n.2693T>G
n.420T>G
n.157T>G
n.3516T>G
c.3526T>G (p.Ser1176Ala)
c.3505T>G (p.Ser1169Ala)
c.3487T>G (p.Ser1163Ala)
c.3469T>G (p.Ser1157Ala)
c.3430T>G (p.Ser1144Ala)
c.3391T>G (p.Ser1131Ala)
c.3115T>G (p.Ser1039Ala)
c.3076T>G (p.Ser1026Ala)
c.3466T>G (p.Ser1156Ala)
c.3373T>G (p.Ser1125Ala)
c.2848T>G (p.Ser950Ala)
c.3163T>G (p.Ser1055Ala)
n.7735T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.9473392T=CA1344740257SETD5n.1822T=
c.3448T= (p.Ser1150=)
n.3856T=
n.921T=
n.4427T=
n.4783T=
c.3352T= (p.Ser1118=)
c.*3498T= (n.*3498T=)
c.*3421T= (n.*3421T=)
c.*3726T= (n.*3726T=)
c.*3457T= (n.*3457T=)
c.3058T= (p.Ser1020=)
c.2354T=
c.3409T= (p.Ser1137=)
c.2388T=
n.2693T=
n.420T=
n.157T=
n.3516T=
c.3526T= (p.Ser1176=)
c.3505T= (p.Ser1169=)
c.3487T= (p.Ser1163=)
c.3469T= (p.Ser1157=)
c.3430T= (p.Ser1144=)
c.3391T= (p.Ser1131=)
c.3115T= (p.Ser1039=)
c.3076T= (p.Ser1026=)
c.3466T= (p.Ser1156=)
c.3373T= (p.Ser1125=)
c.2848T= (p.Ser950=)
c.3163T= (p.Ser1055=)
n.7735T=
3g.9473393C>ACA351685960SETD5n.1823C>A
c.3449C>A (p.Ser1150Tyr)
n.3857C>A
n.922C>A
n.4428C>A
n.4784C>A
c.3353C>A (p.Ser1118Tyr)
c.*3499C>A (n.*3499C>A)
c.*3422C>A (n.*3422C>A)
c.*3727C>A (n.*3727C>A)
c.*3458C>A (n.*3458C>A)
c.3059C>A (p.Ser1020Tyr)
c.2355C>A
c.3410C>A (p.Ser1137Tyr)
c.2389C>A
n.2694C>A
n.421C>A
n.158C>A
n.3517C>A
c.3527C>A (p.Ser1176Tyr)
c.3506C>A (p.Ser1169Tyr)
c.3488C>A (p.Ser1163Tyr)
c.3470C>A (p.Ser1157Tyr)
c.3431C>A (p.Ser1144Tyr)
c.3392C>A (p.Ser1131Tyr)
c.3116C>A (p.Ser1039Tyr)
c.3077C>A (p.Ser1026Tyr)
c.3467C>A (p.Ser1156Tyr)
c.3374C>A (p.Ser1125Tyr)
c.2849C>A (p.Ser950Tyr)
c.3164C>A (p.Ser1055Tyr)
n.7736C>A
3g.9473393C=CA1344740259SETD5n.1823C=
c.3449C= (p.Ser1150=)
n.3857C=
n.922C=
n.4428C=
n.4784C=
c.3353C= (p.Ser1118=)
c.*3499C= (n.*3499C=)
c.*3422C= (n.*3422C=)
c.*3727C= (n.*3727C=)
c.*3458C= (n.*3458C=)
c.3059C= (p.Ser1020=)
c.2355C=
c.3410C= (p.Ser1137=)
c.2389C=
n.2694C=
n.421C=
n.158C=
n.3517C=
c.3527C= (p.Ser1176=)
c.3506C= (p.Ser1169=)
c.3488C= (p.Ser1163=)
c.3470C= (p.Ser1157=)
c.3431C= (p.Ser1144=)
c.3392C= (p.Ser1131=)
c.3116C= (p.Ser1039=)
c.3077C= (p.Ser1026=)
c.3467C= (p.Ser1156=)
c.3374C= (p.Ser1125=)
c.2849C= (p.Ser950=)
c.3164C= (p.Ser1055=)
n.7736C=
3g.9473393C>GCA351685969SETD5n.1823C>G
c.3449C>G (p.Ser1150Cys)
n.3857C>G
n.922C>G
n.4428C>G
n.4784C>G
c.3353C>G (p.Ser1118Cys)
c.*3499C>G (n.*3499C>G)
c.*3422C>G (n.*3422C>G)
c.*3727C>G (n.*3727C>G)
c.*3458C>G (n.*3458C>G)
c.3059C>G (p.Ser1020Cys)
c.2355C>G
c.3410C>G (p.Ser1137Cys)
c.2389C>G
n.2694C>G
n.421C>G
n.158C>G
n.3517C>G
c.3527C>G (p.Ser1176Cys)
c.3506C>G (p.Ser1169Cys)
c.3488C>G (p.Ser1163Cys)
c.3470C>G (p.Ser1157Cys)
c.3431C>G (p.Ser1144Cys)
c.3392C>G (p.Ser1131Cys)
c.3116C>G (p.Ser1039Cys)
c.3077C>G (p.Ser1026Cys)
c.3467C>G (p.Ser1156Cys)
c.3374C>G (p.Ser1125Cys)
c.2849C>G (p.Ser950Cys)
c.3164C>G (p.Ser1055Cys)
n.7736C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.9473393C>TCA351685971SETD5n.1823C>T
c.3449C>T (p.Ser1150Phe)
n.3857C>T
n.922C>T
n.4428C>T
n.4784C>T
c.3353C>T (p.Ser1118Phe)
c.*3499C>T (n.*3499C>T)
c.*3422C>T (n.*3422C>T)
c.*3727C>T (n.*3727C>T)
c.*3458C>T (n.*3458C>T)
c.3059C>T (p.Ser1020Phe)
c.2355C>T
c.3410C>T (p.Ser1137Phe)
c.2389C>T
n.2694C>T
n.421C>T
n.158C>T
n.3517C>T
c.3527C>T (p.Ser1176Phe)
c.3506C>T (p.Ser1169Phe)
c.3488C>T (p.Ser1163Phe)
c.3470C>T (p.Ser1157Phe)
c.3431C>T (p.Ser1144Phe)
c.3392C>T (p.Ser1131Phe)
c.3116C>T (p.Ser1039Phe)
c.3077C>T (p.Ser1026Phe)
c.3467C>T (p.Ser1156Phe)
c.3374C>T (p.Ser1125Phe)
c.2849C>T (p.Ser950Phe)
c.3164C>T (p.Ser1055Phe)
n.7736C>T
3g.9473394C>ACA432365804SETD5n.1824C>A
c.3450C>A (p.Ser1150=)
n.3858C>A
n.923C>A
n.4429C>A
n.4785C>A
c.3354C>A (p.Ser1118=)
c.*3500C>A (n.*3500C>A)
c.*3423C>A (n.*3423C>A)
c.*3728C>A (n.*3728C>A)
c.*3459C>A (n.*3459C>A)
c.3060C>A (p.Ser1020=)
c.2356C>A
c.3411C>A (p.Ser1137=)
c.2390C>A
n.2695C>A
n.422C>A
n.159C>A
n.3518C>A
c.3528C>A (p.Ser1176=)
c.3507C>A (p.Ser1169=)
c.3489C>A (p.Ser1163=)
c.3471C>A (p.Ser1157=)
c.3432C>A (p.Ser1144=)
c.3393C>A (p.Ser1131=)
c.3117C>A (p.Ser1039=)
c.3078C>A (p.Ser1026=)
c.3468C>A (p.Ser1156=)
c.3375C>A (p.Ser1125=)
c.2850C>A (p.Ser950=)
c.3165C>A (p.Ser1055=)
n.7737C>A
3g.9473394C>GCA432365806SETD5n.1824C>G
c.3450C>G (p.Ser1150=)
n.3858C>G
n.923C>G
n.4429C>G
n.4785C>G
c.3354C>G (p.Ser1118=)
c.*3500C>G (n.*3500C>G)
c.*3423C>G (n.*3423C>G)
c.*3728C>G (n.*3728C>G)
c.*3459C>G (n.*3459C>G)
c.3060C>G (p.Ser1020=)
c.2356C>G
c.3411C>G (p.Ser1137=)
c.2390C>G
n.2695C>G
n.422C>G
n.159C>G
n.3518C>G
c.3528C>G (p.Ser1176=)
c.3507C>G (p.Ser1169=)
c.3489C>G (p.Ser1163=)
c.3471C>G (p.Ser1157=)
c.3432C>G (p.Ser1144=)
c.3393C>G (p.Ser1131=)
c.3117C>G (p.Ser1039=)
c.3078C>G (p.Ser1026=)
c.3468C>G (p.Ser1156=)
c.3375C>G (p.Ser1125=)
c.2850C>G (p.Ser950=)
c.3165C>G (p.Ser1055=)
n.7737C>G
 gnomAD v4
3g.9473394C>TCA432365805SETD5n.1824C>T
c.3450C>T (p.Ser1150=)
n.3858C>T
n.923C>T
n.4429C>T
n.4785C>T
c.3354C>T (p.Ser1118=)
c.*3500C>T (n.*3500C>T)
c.*3423C>T (n.*3423C>T)
c.*3728C>T (n.*3728C>T)
c.*3459C>T (n.*3459C>T)
c.3060C>T (p.Ser1020=)
c.2356C>T
c.3411C>T (p.Ser1137=)
c.2390C>T
n.2695C>T
n.422C>T
n.159C>T
n.3518C>T
c.3528C>T (p.Ser1176=)
c.3507C>T (p.Ser1169=)
c.3489C>T (p.Ser1163=)
c.3471C>T (p.Ser1157=)
c.3432C>T (p.Ser1144=)
c.3393C>T (p.Ser1131=)
c.3117C>T (p.Ser1039=)
c.3078C>T (p.Ser1026=)
c.3468C>T (p.Ser1156=)
c.3375C>T (p.Ser1125=)
c.2850C>T (p.Ser950=)
c.3165C>T (p.Ser1055=)
n.7737C>T
3g.9473395T>ACA351685975SETD5n.1825T>A
c.3451T>A (p.Ser1151Thr)
n.3859T>A
n.924T>A
n.4430T>A
n.4786T>A
c.3355T>A (p.Ser1119Thr)
c.*3501T>A (n.*3501T>A)
c.*3424T>A (n.*3424T>A)
c.*3729T>A (n.*3729T>A)
c.*3460T>A (n.*3460T>A)
c.3061T>A (p.Ser1021Thr)
c.2357T>A
c.3412T>A (p.Ser1138Thr)
c.2391T>A
n.1T>A
n.2696T>A
n.423T>A
n.160T>A
n.3519T>A
c.3529T>A (p.Ser1177Thr)
c.3508T>A (p.Ser1170Thr)
c.3490T>A (p.Ser1164Thr)
c.3472T>A (p.Ser1158Thr)
c.3433T>A (p.Ser1145Thr)
c.3394T>A (p.Ser1132Thr)
c.3118T>A (p.Ser1040Thr)
c.3079T>A (p.Ser1027Thr)
c.3469T>A (p.Ser1157Thr)
c.3376T>A (p.Ser1126Thr)
c.2851T>A (p.Ser951Thr)
c.3166T>A (p.Ser1056Thr)
n.7738T>A
3g.9473395T>CCA351685977SETD5n.1825T>C
c.3451T>C (p.Ser1151Pro)
n.3859T>C
n.924T>C
n.4430T>C
n.4786T>C
c.3355T>C (p.Ser1119Pro)
c.*3501T>C (n.*3501T>C)
c.*3424T>C (n.*3424T>C)
c.*3729T>C (n.*3729T>C)
c.*3460T>C (n.*3460T>C)
c.3061T>C (p.Ser1021Pro)
c.2357T>C
c.3412T>C (p.Ser1138Pro)
c.2391T>C
n.1T>C
n.2696T>C
n.423T>C
n.160T>C
n.3519T>C
c.3529T>C (p.Ser1177Pro)
c.3508T>C (p.Ser1170Pro)
c.3490T>C (p.Ser1164Pro)
c.3472T>C (p.Ser1158Pro)
c.3433T>C (p.Ser1145Pro)
c.3394T>C (p.Ser1132Pro)
c.3118T>C (p.Ser1040Pro)
c.3079T>C (p.Ser1027Pro)
c.3469T>C (p.Ser1157Pro)
c.3376T>C (p.Ser1126Pro)
c.2851T>C (p.Ser951Pro)
c.3166T>C (p.Ser1056Pro)
n.7738T>C
 dbSNP gnomAD v2 gnomAD v4
3g.9473395T>GCA351685978SETD5n.1825T>G
c.3451T>G (p.Ser1151Ala)
n.3859T>G
n.924T>G
n.4430T>G
n.4786T>G
c.3355T>G (p.Ser1119Ala)
c.*3501T>G (n.*3501T>G)
c.*3424T>G (n.*3424T>G)
c.*3729T>G (n.*3729T>G)
c.*3460T>G (n.*3460T>G)
c.3061T>G (p.Ser1021Ala)
c.2357T>G
c.3412T>G (p.Ser1138Ala)
c.2391T>G
n.1T>G
n.2696T>G
n.423T>G
n.160T>G
n.3519T>G
c.3529T>G (p.Ser1177Ala)
c.3508T>G (p.Ser1170Ala)
c.3490T>G (p.Ser1164Ala)
c.3472T>G (p.Ser1158Ala)
c.3433T>G (p.Ser1145Ala)
c.3394T>G (p.Ser1132Ala)
c.3118T>G (p.Ser1040Ala)
c.3079T>G (p.Ser1027Ala)
c.3469T>G (p.Ser1157Ala)
c.3376T>G (p.Ser1126Ala)
c.2851T>G (p.Ser951Ala)
c.3166T>G (p.Ser1056Ala)
n.7738T>G
3g.9473395T=CA1344740262SETD5n.1825T=
c.3451T= (p.Ser1151=)
n.3859T=
n.924T=
n.4430T=
n.4786T=
c.3355T= (p.Ser1119=)
c.*3501T= (n.*3501T=)
c.*3424T= (n.*3424T=)
c.*3729T= (n.*3729T=)
c.*3460T= (n.*3460T=)
c.3061T= (p.Ser1021=)
c.2357T=
c.3412T= (p.Ser1138=)
c.2391T=
n.1T=
n.2696T=
n.423T=
n.160T=
n.3519T=
c.3529T= (p.Ser1177=)
c.3508T= (p.Ser1170=)
c.3490T= (p.Ser1164=)
c.3472T= (p.Ser1158=)
c.3433T= (p.Ser1145=)
c.3394T= (p.Ser1132=)
c.3118T= (p.Ser1040=)
c.3079T= (p.Ser1027=)
c.3469T= (p.Ser1157=)
c.3376T= (p.Ser1126=)
c.2851T= (p.Ser951=)
c.3166T= (p.Ser1056=)
n.7738T=
3g.9473396C>ACA351685979SETD5n.1826C>A
c.3452C>A (p.Ser1151Ter)
n.3860C>A
n.925C>A
n.4431C>A
n.4787C>A
c.3356C>A (p.Ser1119Ter)
c.*3502C>A (n.*3502C>A)
c.*3425C>A (n.*3425C>A)
c.*3730C>A (n.*3730C>A)
c.*3461C>A (n.*3461C>A)
c.3062C>A (p.Ser1021Ter)
c.2358C>A
c.3413C>A (p.Ser1138Ter)
c.2392C>A
n.2C>A
n.2697C>A
n.424C>A
n.161C>A
n.3520C>A
c.3530C>A (p.Ser1177Ter)
c.3509C>A (p.Ser1170Ter)
c.3491C>A (p.Ser1164Ter)
c.3473C>A (p.Ser1158Ter)
c.3434C>A (p.Ser1145Ter)
c.3395C>A (p.Ser1132Ter)
c.3119C>A (p.Ser1040Ter)
c.3080C>A (p.Ser1027Ter)
c.3470C>A (p.Ser1157Ter)
c.3377C>A (p.Ser1126Ter)
c.2852C>A (p.Ser951Ter)
c.3167C>A (p.Ser1056Ter)
n.7739C>A
3g.9473396C>GCA351685980SETD5n.1826C>G
c.3452C>G (p.Ser1151Ter)
n.3860C>G
n.925C>G
n.4431C>G
n.4787C>G
c.3356C>G (p.Ser1119Ter)
c.*3502C>G (n.*3502C>G)
c.*3425C>G (n.*3425C>G)
c.*3730C>G (n.*3730C>G)
c.*3461C>G (n.*3461C>G)
c.3062C>G (p.Ser1021Ter)
c.2358C>G
c.3413C>G (p.Ser1138Ter)
c.2392C>G
n.2C>G
n.2697C>G
n.424C>G
n.161C>G
n.3520C>G
c.3530C>G (p.Ser1177Ter)
c.3509C>G (p.Ser1170Ter)
c.3491C>G (p.Ser1164Ter)
c.3473C>G (p.Ser1158Ter)
c.3434C>G (p.Ser1145Ter)
c.3395C>G (p.Ser1132Ter)
c.3119C>G (p.Ser1040Ter)
c.3080C>G (p.Ser1027Ter)
c.3470C>G (p.Ser1157Ter)
c.3377C>G (p.Ser1126Ter)
c.2852C>G (p.Ser951Ter)
c.3167C>G (p.Ser1056Ter)
n.7739C>G
3g.9473396C>TCA351685982SETD5n.1826C>T
c.3452C>T (p.Ser1151Leu)
n.3860C>T
n.925C>T
n.4431C>T
n.4787C>T
c.3356C>T (p.Ser1119Leu)
c.*3502C>T (n.*3502C>T)
c.*3425C>T (n.*3425C>T)
c.*3730C>T (n.*3730C>T)
c.*3461C>T (n.*3461C>T)
c.3062C>T (p.Ser1021Leu)
c.2358C>T
c.3413C>T (p.Ser1138Leu)
c.2392C>T
n.2C>T
n.2697C>T
n.424C>T
n.161C>T
n.3520C>T
c.3530C>T (p.Ser1177Leu)
c.3509C>T (p.Ser1170Leu)
c.3491C>T (p.Ser1164Leu)
c.3473C>T (p.Ser1158Leu)
c.3434C>T (p.Ser1145Leu)
c.3395C>T (p.Ser1132Leu)
c.3119C>T (p.Ser1040Leu)
c.3080C>T (p.Ser1027Leu)
c.3470C>T (p.Ser1157Leu)
c.3377C>T (p.Ser1126Leu)
c.2852C>T (p.Ser951Leu)
c.3167C>T (p.Ser1056Leu)
n.7739C>T
3g.9473397A>CCA432365807SETD5n.1827A>C
c.3453A>C (p.Ser1151=)
n.3861A>C
n.926A>C
n.4432A>C
n.4788A>C
c.3357A>C (p.Ser1119=)
c.*3503A>C (n.*3503A>C)
c.*3426A>C (n.*3426A>C)
c.*3731A>C (n.*3731A>C)
c.*3462A>C (n.*3462A>C)
c.3063A>C (p.Ser1021=)
c.2359A>C
c.3414A>C (p.Ser1138=)
c.2393A>C
n.3A>C
n.2698A>C
n.425A>C
n.162A>C
n.3521A>C
c.3531A>C (p.Ser1177=)
c.3510A>C (p.Ser1170=)
c.3492A>C (p.Ser1164=)
c.3474A>C (p.Ser1158=)
c.3435A>C (p.Ser1145=)
c.3396A>C (p.Ser1132=)
c.3120A>C (p.Ser1040=)
c.3081A>C (p.Ser1027=)
c.3471A>C (p.Ser1157=)
c.3378A>C (p.Ser1126=)
c.2853A>C (p.Ser951=)
c.3168A>C (p.Ser1056=)
n.7740A>C
3g.9473397A>GCA432365808SETD5n.1827A>G
c.3453A>G (p.Ser1151=)
n.3861A>G
n.926A>G
n.4432A>G
n.4788A>G
c.3357A>G (p.Ser1119=)
c.*3503A>G (n.*3503A>G)
c.*3426A>G (n.*3426A>G)
c.*3731A>G (n.*3731A>G)
c.*3462A>G (n.*3462A>G)
c.3063A>G (p.Ser1021=)
c.2359A>G
c.3414A>G (p.Ser1138=)
c.2393A>G
n.3A>G
n.2698A>G
n.425A>G
n.162A>G
n.3521A>G
c.3531A>G (p.Ser1177=)
c.3510A>G (p.Ser1170=)
c.3492A>G (p.Ser1164=)
c.3474A>G (p.Ser1158=)
c.3435A>G (p.Ser1145=)
c.3396A>G (p.Ser1132=)
c.3120A>G (p.Ser1040=)
c.3081A>G (p.Ser1027=)
c.3471A>G (p.Ser1157=)
c.3378A>G (p.Ser1126=)
c.2853A>G (p.Ser951=)
c.3168A>G (p.Ser1056=)
n.7740A>G
 COSMIC COSMIC
3g.9473397A>TCA432365809SETD5n.1827A>T
c.3453A>T (p.Ser1151=)
n.3861A>T
n.926A>T
n.4432A>T
n.4788A>T
c.3357A>T (p.Ser1119=)
c.*3503A>T (n.*3503A>T)
c.*3426A>T (n.*3426A>T)
c.*3731A>T (n.*3731A>T)
c.*3462A>T (n.*3462A>T)
c.3063A>T (p.Ser1021=)
c.2359A>T
c.3414A>T (p.Ser1138=)
c.2393A>T
n.3A>T
n.2698A>T
n.425A>T
n.162A>T
n.3521A>T
c.3531A>T (p.Ser1177=)
c.3510A>T (p.Ser1170=)
c.3492A>T (p.Ser1164=)
c.3474A>T (p.Ser1158=)
c.3435A>T (p.Ser1145=)
c.3396A>T (p.Ser1132=)
c.3120A>T (p.Ser1040=)
c.3081A>T (p.Ser1027=)
c.3471A>T (p.Ser1157=)
c.3378A>T (p.Ser1126=)
c.2853A>T (p.Ser951=)
c.3168A>T (p.Ser1056=)
n.7740A>T
3g.9473398G>ACA351685985SETD5n.1828G>A
c.3454G>A (p.Ala1152Thr)
n.3862G>A
n.927G>A
n.4433G>A
n.4789G>A
c.3358G>A (p.Ala1120Thr)
c.*3504G>A (n.*3504G>A)
c.*3427G>A (n.*3427G>A)
c.*3732G>A (n.*3732G>A)
c.*3463G>A (n.*3463G>A)
c.3064G>A (p.Ala1022Thr)
c.2360G>A
c.3415G>A (p.Ala1139Thr)
c.2394G>A
n.4G>A
n.2699G>A
n.426G>A
n.163G>A
n.3522G>A
c.3532G>A (p.Ala1178Thr)
c.3511G>A (p.Ala1171Thr)
c.3493G>A (p.Ala1165Thr)
c.3475G>A (p.Ala1159Thr)
c.3436G>A (p.Ala1146Thr)
c.3397G>A (p.Ala1133Thr)
c.3121G>A (p.Ala1041Thr)
c.3082G>A (p.Ala1028Thr)
c.3472G>A (p.Ala1158Thr)
c.3379G>A (p.Ala1127Thr)
c.2854G>A (p.Ala952Thr)
c.3169G>A (p.Ala1057Thr)
n.7741G>A
3g.9473398G>CCA351685988SETD5n.1828G>C
c.3454G>C (p.Ala1152Pro)
n.3862G>C
n.927G>C
n.4433G>C
n.4789G>C
c.3358G>C (p.Ala1120Pro)
c.*3504G>C (n.*3504G>C)
c.*3427G>C (n.*3427G>C)
c.*3732G>C (n.*3732G>C)
c.*3463G>C (n.*3463G>C)
c.3064G>C (p.Ala1022Pro)
c.2360G>C
c.3415G>C (p.Ala1139Pro)
c.2394G>C
n.4G>C
n.2699G>C
n.426G>C
n.163G>C
n.3522G>C
c.3532G>C (p.Ala1178Pro)
c.3511G>C (p.Ala1171Pro)
c.3493G>C (p.Ala1165Pro)
c.3475G>C (p.Ala1159Pro)
c.3436G>C (p.Ala1146Pro)
c.3397G>C (p.Ala1133Pro)
c.3121G>C (p.Ala1041Pro)
c.3082G>C (p.Ala1028Pro)
c.3472G>C (p.Ala1158Pro)
c.3379G>C (p.Ala1127Pro)
c.2854G>C (p.Ala952Pro)
c.3169G>C (p.Ala1057Pro)
n.7741G>C
3g.9473398G>TCA351685990SETD5n.1828G>T
c.3454G>T (p.Ala1152Ser)
n.3862G>T
n.927G>T
n.4433G>T
n.4789G>T
c.3358G>T (p.Ala1120Ser)
c.*3504G>T (n.*3504G>T)
c.*3427G>T (n.*3427G>T)
c.*3732G>T (n.*3732G>T)
c.*3463G>T (n.*3463G>T)
c.3064G>T (p.Ala1022Ser)
c.2360G>T
c.3415G>T (p.Ala1139Ser)
c.2394G>T
n.4G>T
n.2699G>T
n.426G>T
n.163G>T
n.3522G>T
c.3532G>T (p.Ala1178Ser)
c.3511G>T (p.Ala1171Ser)
c.3493G>T (p.Ala1165Ser)
c.3475G>T (p.Ala1159Ser)
c.3436G>T (p.Ala1146Ser)
c.3397G>T (p.Ala1133Ser)
c.3121G>T (p.Ala1041Ser)
c.3082G>T (p.Ala1028Ser)
c.3472G>T (p.Ala1158Ser)
c.3379G>T (p.Ala1127Ser)
c.2854G>T (p.Ala952Ser)
c.3169G>T (p.Ala1057Ser)
n.7741G>T
3g.9473398_9473399delinsGCCA1344740264SETD5n.1828_1829delinsGC
c.3454_3455delinsGC (p.Ala1152=)
n.3862_3863delinsGC
n.927_928delinsGC
n.4433_4434delinsGC
n.4789_4790delinsGC
c.3358_3359delinsGC (p.Ala1120=)
c.*3504_*3505delinsGC (n.*3504_*3505delinsGC)
c.*3427_*3428delinsGC (n.*3427_*3428delinsGC)
c.*3732_*3733delinsGC (n.*3732_*3733delinsGC)
c.*3463_*3464delinsGC (n.*3463_*3464delinsGC)
c.3064_3065delinsGC (p.Ala1022=)
c.2360_2361delinsGC
c.3415_3416delinsGC (p.Ala1139=)
c.2394_2395delinsGC
n.4_5delinsGC
n.2699_2700delinsGC
n.426_427delinsGC
n.163_164delinsGC
n.3522_3523delinsGC
c.3532_3533delinsGC (p.Ala1178=)
c.3511_3512delinsGC (p.Ala1171=)
c.3493_3494delinsGC (p.Ala1165=)
c.3475_3476delinsGC (p.Ala1159=)
c.3436_3437delinsGC (p.Ala1146=)
c.3397_3398delinsGC (p.Ala1133=)
c.3121_3122delinsGC (p.Ala1041=)
c.3082_3083delinsGC (p.Ala1028=)
c.3472_3473delinsGC (p.Ala1158=)
c.3379_3380delinsGC (p.Ala1127=)
c.2854_2855delinsGC (p.Ala952=)
c.3169_3170delinsGC (p.Ala1057=)
n.7741_7742delinsGC
3g.9473399C>ACA2239677SETD5n.1829C>A
c.3455C>A (p.Ala1152Asp)
n.3863C>A
n.928C>A
n.4434C>A
n.4790C>A
c.3359C>A (p.Ala1120Asp)
c.*3505C>A (n.*3505C>A)
c.*3428C>A (n.*3428C>A)
c.*3733C>A (n.*3733C>A)
c.*3464C>A (n.*3464C>A)
c.3065C>A (p.Ala1022Asp)
c.2361C>A
c.3416C>A (p.Ala1139Asp)
c.2395C>A
n.5C>A
n.2700C>A
n.427C>A
n.164C>A
n.3523C>A
c.3533C>A (p.Ala1178Asp)
c.3512C>A (p.Ala1171Asp)
c.3494C>A (p.Ala1165Asp)
c.3476C>A (p.Ala1159Asp)
c.3437C>A (p.Ala1146Asp)
c.3398C>A (p.Ala1133Asp)
c.3122C>A (p.Ala1041Asp)
c.3083C>A (p.Ala1028Asp)
c.3473C>A (p.Ala1158Asp)
c.3380C>A (p.Ala1127Asp)
c.2855C>A (p.Ala952Asp)
c.3170C>A (p.Ala1057Asp)
n.7742C>A
 dbSNP ExAC
3g.9473399C=CA1344740272SETD5n.1829C=
c.3455C= (p.Ala1152=)
n.3863C=
n.928C=
n.4434C=
n.4790C=
c.3359C= (p.Ala1120=)
c.*3505C= (n.*3505C=)
c.*3428C= (n.*3428C=)
c.*3733C= (n.*3733C=)
c.*3464C= (n.*3464C=)
c.3065C= (p.Ala1022=)
c.2361C=
c.3416C= (p.Ala1139=)
c.2395C=
n.5C=
n.2700C=
n.427C=
n.164C=
n.3523C=
c.3533C= (p.Ala1178=)
c.3512C= (p.Ala1171=)
c.3494C= (p.Ala1165=)
c.3476C= (p.Ala1159=)
c.3437C= (p.Ala1146=)
c.3398C= (p.Ala1133=)
c.3122C= (p.Ala1041=)
c.3083C= (p.Ala1028=)
c.3473C= (p.Ala1158=)
c.3380C= (p.Ala1127=)
c.2855C= (p.Ala952=)
c.3170C= (p.Ala1057=)
n.7742C=
3g.9473399C>GCA351685993SETD5n.1829C>G
c.3455C>G (p.Ala1152Gly)
n.3863C>G
n.928C>G
n.4434C>G
n.4790C>G
c.3359C>G (p.Ala1120Gly)
c.*3505C>G (n.*3505C>G)
c.*3428C>G (n.*3428C>G)
c.*3733C>G (n.*3733C>G)
c.*3464C>G (n.*3464C>G)
c.3065C>G (p.Ala1022Gly)
c.2361C>G
c.3416C>G (p.Ala1139Gly)
c.2395C>G
n.5C>G
n.2700C>G
n.427C>G
n.164C>G
n.3523C>G
c.3533C>G (p.Ala1178Gly)
c.3512C>G (p.Ala1171Gly)
c.3494C>G (p.Ala1165Gly)
c.3476C>G (p.Ala1159Gly)
c.3437C>G (p.Ala1146Gly)
c.3398C>G (p.Ala1133Gly)
c.3122C>G (p.Ala1041Gly)
c.3083C>G (p.Ala1028Gly)
c.3473C>G (p.Ala1158Gly)
c.3380C>G (p.Ala1127Gly)
c.2855C>G (p.Ala952Gly)
c.3170C>G (p.Ala1057Gly)
n.7742C>G
3g.9473399C>TCA69951111SETD5n.1829C>T
c.3455C>T (p.Ala1152Val)
n.3863C>T
n.928C>T
n.4434C>T
n.4790C>T
c.3359C>T (p.Ala1120Val)
c.*3505C>T (n.*3505C>T)
c.*3428C>T (n.*3428C>T)
c.*3733C>T (n.*3733C>T)
c.*3464C>T (n.*3464C>T)
c.3065C>T (p.Ala1022Val)
c.2361C>T
c.3416C>T (p.Ala1139Val)
c.2395C>T
n.5C>T
n.2700C>T
n.427C>T
n.164C>T
n.3523C>T
c.3533C>T (p.Ala1178Val)
c.3512C>T (p.Ala1171Val)
c.3494C>T (p.Ala1165Val)
c.3476C>T (p.Ala1159Val)
c.3437C>T (p.Ala1146Val)
c.3398C>T (p.Ala1133Val)
c.3122C>T (p.Ala1041Val)
c.3083C>T (p.Ala1028Val)
c.3473C>T (p.Ala1158Val)
c.3380C>T (p.Ala1127Val)
c.2855C>T (p.Ala952Val)
c.3170C>T (p.Ala1057Val)
n.7742C>T
 dbSNP gnomAD v2 gnomAD v4
3g.9473401delCA658796228SETD5n.1831del
c.3457del (p.Arg1153GlufsTer23)
n.3865del
n.930del
n.4436del
n.4792del
c.3361del (p.Arg1121GlufsTer23)
c.*3507del (n.*3507del)
c.*3430del (n.*3430del)
c.*3735del (n.*3735del)
c.*3466del (n.*3466del)
c.3067del (p.Arg1023GlufsTer23)
c.2363del
c.3418del (p.Arg1140GlufsTer23)
c.2397del
n.7del
n.2702del
n.429del
n.166del
n.3525del
c.3535del (p.Arg1179GlufsTer23)
c.3514del (p.Arg1172GlufsTer23)
c.3496del (p.Arg1166GlufsTer23)
c.3478del (p.Arg1160GlufsTer23)
c.3439del (p.Arg1147GlufsTer23)
c.3400del (p.Arg1134GlufsTer23)
c.3124del (p.Arg1042GlufsTer23)
c.3085del (p.Arg1029GlufsTer23)
c.3475del (p.Arg1159GlufsTer23)
c.3382del (p.Arg1128GlufsTer23)
c.2857del (p.Arg953GlufsTer23)
c.3172del (p.Arg1058GlufsTer23)
n.7744del
 ClinVar dbSNP
3g.9473400C>ACA432365810SETD5n.1830C>A
c.3456C>A (p.Ala1152=)
n.3864C>A
n.929C>A
n.4435C>A
n.4791C>A
c.3360C>A (p.Ala1120=)
c.*3506C>A (n.*3506C>A)
c.*3429C>A (n.*3429C>A)
c.*3734C>A (n.*3734C>A)
c.*3465C>A (n.*3465C>A)
c.3066C>A (p.Ala1022=)
c.2362C>A
c.3417C>A (p.Ala1139=)
c.2396C>A
n.6C>A
n.2701C>A
n.428C>A
n.165C>A
n.3524C>A
c.3534C>A (p.Ala1178=)
c.3513C>A (p.Ala1171=)
c.3495C>A (p.Ala1165=)
c.3477C>A (p.Ala1159=)
c.3438C>A (p.Ala1146=)
c.3399C>A (p.Ala1133=)
c.3123C>A (p.Ala1041=)
c.3084C>A (p.Ala1028=)
c.3474C>A (p.Ala1158=)
c.3381C>A (p.Ala1127=)
c.2856C>A (p.Ala952=)
c.3171C>A (p.Ala1057=)
n.7743C>A
3g.9473400C>GCA432365811SETD5n.1830C>G
c.3456C>G (p.Ala1152=)
n.3864C>G
n.929C>G
n.4435C>G
n.4791C>G
c.3360C>G (p.Ala1120=)
c.*3506C>G (n.*3506C>G)
c.*3429C>G (n.*3429C>G)
c.*3734C>G (n.*3734C>G)
c.*3465C>G (n.*3465C>G)
c.3066C>G (p.Ala1022=)
c.2362C>G
c.3417C>G (p.Ala1139=)
c.2396C>G
n.6C>G
n.2701C>G
n.428C>G
n.165C>G
n.3524C>G
c.3534C>G (p.Ala1178=)
c.3513C>G (p.Ala1171=)
c.3495C>G (p.Ala1165=)
c.3477C>G (p.Ala1159=)
c.3438C>G (p.Ala1146=)
c.3399C>G (p.Ala1133=)
c.3123C>G (p.Ala1041=)
c.3084C>G (p.Ala1028=)
c.3474C>G (p.Ala1158=)
c.3381C>G (p.Ala1127=)
c.2856C>G (p.Ala952=)
c.3171C>G (p.Ala1057=)
n.7743C>G
3g.9473400C>TCA432365812SETD5n.1830C>T
c.3456C>T (p.Ala1152=)
n.3864C>T
n.929C>T
n.4435C>T
n.4791C>T
c.3360C>T (p.Ala1120=)
c.*3506C>T (n.*3506C>T)
c.*3429C>T (n.*3429C>T)
c.*3734C>T (n.*3734C>T)
c.*3465C>T (n.*3465C>T)
c.3066C>T (p.Ala1022=)
c.2362C>T
c.3417C>T (p.Ala1139=)
c.2396C>T
n.6C>T
n.2701C>T
n.428C>T
n.165C>T
n.3524C>T
c.3534C>T (p.Ala1178=)
c.3513C>T (p.Ala1171=)
c.3495C>T (p.Ala1165=)
c.3477C>T (p.Ala1159=)
c.3438C>T (p.Ala1146=)
c.3399C>T (p.Ala1133=)
c.3123C>T (p.Ala1041=)
c.3084C>T (p.Ala1028=)
c.3474C>T (p.Ala1158=)
c.3381C>T (p.Ala1127=)
c.2856C>T (p.Ala952=)
c.3171C>T (p.Ala1057=)
n.7743C>T
 gnomAD v4
3g.9473401C>ACA432365813SETD5n.1831C>A
c.3457C>A (p.Arg1153=)
n.3865C>A
n.930C>A
n.4436C>A
n.4792C>A
c.3361C>A (p.Arg1121=)
c.*3507C>A (n.*3507C>A)
c.*3430C>A (n.*3430C>A)
c.*3735C>A (n.*3735C>A)
c.*3466C>A (n.*3466C>A)
c.3067C>A (p.Arg1023=)
c.2363C>A
c.3418C>A (p.Arg1140=)
c.2397C>A
n.7C>A
n.2702C>A
n.429C>A
n.166C>A
n.3525C>A
c.3535C>A (p.Arg1179=)
c.3514C>A (p.Arg1172=)
c.3496C>A (p.Arg1166=)
c.3478C>A (p.Arg1160=)
c.3439C>A (p.Arg1147=)
c.3400C>A (p.Arg1134=)
c.3124C>A (p.Arg1042=)
c.3085C>A (p.Arg1029=)
c.3475C>A (p.Arg1159=)
c.3382C>A (p.Arg1128=)
c.2857C>A (p.Arg953=)
c.3172C>A (p.Arg1058=)
n.7744C>A
3g.9473401C>GCA351686000SETD5n.1831C>G
c.3457C>G (p.Arg1153Gly)
n.3865C>G
n.930C>G
n.4436C>G
n.4792C>G
c.3361C>G (p.Arg1121Gly)
c.*3507C>G (n.*3507C>G)
c.*3430C>G (n.*3430C>G)
c.*3735C>G (n.*3735C>G)
c.*3466C>G (n.*3466C>G)
c.3067C>G (p.Arg1023Gly)
c.2363C>G
c.3418C>G (p.Arg1140Gly)
c.2397C>G
n.7C>G
n.2702C>G
n.429C>G
n.166C>G
n.3525C>G
c.3535C>G (p.Arg1179Gly)
c.3514C>G (p.Arg1172Gly)
c.3496C>G (p.Arg1166Gly)
c.3478C>G (p.Arg1160Gly)
c.3439C>G (p.Arg1147Gly)
c.3400C>G (p.Arg1134Gly)
c.3124C>G (p.Arg1042Gly)
c.3085C>G (p.Arg1029Gly)
c.3475C>G (p.Arg1159Gly)
c.3382C>G (p.Arg1128Gly)
c.2857C>G (p.Arg953Gly)
c.3172C>G (p.Arg1058Gly)
n.7744C>G
 gnomAD v4
3g.9473401C>TCA351686004SETD5n.1831C>T
c.3457C>T (p.Arg1153Ter)
n.3865C>T
n.930C>T
n.4436C>T
n.4792C>T
c.3361C>T (p.Arg1121Ter)
c.*3507C>T (n.*3507C>T)
c.*3430C>T (n.*3430C>T)
c.*3735C>T (n.*3735C>T)
c.*3466C>T (n.*3466C>T)
c.3067C>T (p.Arg1023Ter)
c.2363C>T
c.3418C>T (p.Arg1140Ter)
c.2397C>T
n.7C>T
n.2702C>T
n.429C>T
n.166C>T
n.3525C>T
c.3535C>T (p.Arg1179Ter)
c.3514C>T (p.Arg1172Ter)
c.3496C>T (p.Arg1166Ter)
c.3478C>T (p.Arg1160Ter)
c.3439C>T (p.Arg1147Ter)
c.3400C>T (p.Arg1134Ter)
c.3124C>T (p.Arg1042Ter)
c.3085C>T (p.Arg1029Ter)
c.3475C>T (p.Arg1159Ter)
c.3382C>T (p.Arg1128Ter)
c.2857C>T (p.Arg953Ter)
c.3172C>T (p.Arg1058Ter)
n.7744C>T
 ClinVar
3g.9473402G>ACA69951118SETD5n.1832G>A
c.3458G>A (p.Arg1153Gln)
n.3866G>A
n.931G>A
n.4437G>A
n.4793G>A
c.3362G>A (p.Arg1121Gln)
c.*3508G>A (n.*3508G>A)
c.*3431G>A (n.*3431G>A)
c.*3736G>A (n.*3736G>A)
c.*3467G>A (n.*3467G>A)
c.3068G>A (p.Arg1023Gln)
c.2364G>A
c.3419G>A (p.Arg1140Gln)
c.2398G>A
n.8G>A
n.2703G>A
n.430G>A
n.167G>A
n.3526G>A
c.3536G>A (p.Arg1179Gln)
c.3515G>A (p.Arg1172Gln)
c.3497G>A (p.Arg1166Gln)
c.3479G>A (p.Arg1160Gln)
c.3440G>A (p.Arg1147Gln)
c.3401G>A (p.Arg1134Gln)
c.3125G>A (p.Arg1042Gln)
c.3086G>A (p.Arg1029Gln)
c.3476G>A (p.Arg1159Gln)
c.3383G>A (p.Arg1128Gln)
c.2858G>A (p.Arg953Gln)
c.3173G>A (p.Arg1058Gln)
n.7745G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.9473402G>CCA351686008SETD5n.1832G>C
c.3458G>C (p.Arg1153Pro)
n.3866G>C
n.931G>C
n.4437G>C
n.4793G>C
c.3362G>C (p.Arg1121Pro)
c.*3508G>C (n.*3508G>C)
c.*3431G>C (n.*3431G>C)
c.*3736G>C (n.*3736G>C)
c.*3467G>C (n.*3467G>C)
c.3068G>C (p.Arg1023Pro)
c.2364G>C
c.3419G>C (p.Arg1140Pro)
c.2398G>C
n.8G>C
n.2703G>C
n.430G>C
n.167G>C
n.3526G>C
c.3536G>C (p.Arg1179Pro)
c.3515G>C (p.Arg1172Pro)
c.3497G>C (p.Arg1166Pro)
c.3479G>C (p.Arg1160Pro)
c.3440G>C (p.Arg1147Pro)
c.3401G>C (p.Arg1134Pro)
c.3125G>C (p.Arg1042Pro)
c.3086G>C (p.Arg1029Pro)
c.3476G>C (p.Arg1159Pro)
c.3383G>C (p.Arg1128Pro)
c.2858G>C (p.Arg953Pro)
c.3173G>C (p.Arg1058Pro)
n.7745G>C
 COSMIC COSMIC
3g.9473402G=CA1344740283SETD5n.1832G=
c.3458G= (p.Arg1153=)
n.3866G=
n.931G=
n.4437G=
n.4793G=
c.3362G= (p.Arg1121=)
c.*3508G= (n.*3508G=)
c.*3431G= (n.*3431G=)
c.*3736G= (n.*3736G=)
c.*3467G= (n.*3467G=)
c.3068G= (p.Arg1023=)
c.2364G=
c.3419G= (p.Arg1140=)
c.2398G=
n.8G=
n.2703G=
n.430G=
n.167G=
n.3526G=
c.3536G= (p.Arg1179=)
c.3515G= (p.Arg1172=)
c.3497G= (p.Arg1166=)
c.3479G= (p.Arg1160=)
c.3440G= (p.Arg1147=)
c.3401G= (p.Arg1134=)
c.3125G= (p.Arg1042=)
c.3086G= (p.Arg1029=)
c.3476G= (p.Arg1159=)
c.3383G= (p.Arg1128=)
c.2858G= (p.Arg953=)
c.3173G= (p.Arg1058=)
n.7745G=
3g.9473402G>TCA351686010SETD5n.1832G>T
c.3458G>T (p.Arg1153Leu)
n.3866G>T
n.931G>T
n.4437G>T
n.4793G>T
c.3362G>T (p.Arg1121Leu)
c.*3508G>T (n.*3508G>T)
c.*3431G>T (n.*3431G>T)
c.*3736G>T (n.*3736G>T)
c.*3467G>T (n.*3467G>T)
c.3068G>T (p.Arg1023Leu)
c.2364G>T
c.3419G>T (p.Arg1140Leu)
c.2398G>T
n.8G>T
n.2703G>T
n.430G>T
n.167G>T
n.3526G>T
c.3536G>T (p.Arg1179Leu)
c.3515G>T (p.Arg1172Leu)
c.3497G>T (p.Arg1166Leu)
c.3479G>T (p.Arg1160Leu)
c.3440G>T (p.Arg1147Leu)
c.3401G>T (p.Arg1134Leu)
c.3125G>T (p.Arg1042Leu)
c.3086G>T (p.Arg1029Leu)
c.3476G>T (p.Arg1159Leu)
c.3383G>T (p.Arg1128Leu)
c.2858G>T (p.Arg953Leu)
c.3173G>T (p.Arg1058Leu)
n.7745G>T
 dbSNP gnomAD v2 gnomAD v4
3g.9473403A>CCA432365814SETD5n.1833A>C
c.3459A>C (p.Arg1153=)
n.3867A>C
n.932A>C
n.4438A>C
n.4794A>C
c.3363A>C (p.Arg1121=)
c.*3509A>C (n.*3509A>C)
c.*3432A>C (n.*3432A>C)
c.*3737A>C (n.*3737A>C)
c.*3468A>C (n.*3468A>C)
c.3069A>C (p.Arg1023=)
c.2365A>C
c.3420A>C (p.Arg1140=)
c.2399A>C
n.9A>C
n.2704A>C
n.431A>C
n.168A>C
n.3527A>C
c.3537A>C (p.Arg1179=)
c.3516A>C (p.Arg1172=)
c.3498A>C (p.Arg1166=)
c.3480A>C (p.Arg1160=)
c.3441A>C (p.Arg1147=)
c.3402A>C (p.Arg1134=)
c.3126A>C (p.Arg1042=)
c.3087A>C (p.Arg1029=)
c.3477A>C (p.Arg1159=)
c.3384A>C (p.Arg1128=)
c.2859A>C (p.Arg953=)
c.3174A>C (p.Arg1058=)
n.7746A>C
3g.9473403A>GCA432365815SETD5n.1833A>G
c.3459A>G (p.Arg1153=)
n.3867A>G
n.932A>G
n.4438A>G
n.4794A>G
c.3363A>G (p.Arg1121=)
c.*3509A>G (n.*3509A>G)
c.*3432A>G (n.*3432A>G)
c.*3737A>G (n.*3737A>G)
c.*3468A>G (n.*3468A>G)
c.3069A>G (p.Arg1023=)
c.2365A>G
c.3420A>G (p.Arg1140=)
c.2399A>G
n.9A>G
n.2704A>G
n.431A>G
n.168A>G
n.3527A>G
c.3537A>G (p.Arg1179=)
c.3516A>G (p.Arg1172=)
c.3498A>G (p.Arg1166=)
c.3480A>G (p.Arg1160=)
c.3441A>G (p.Arg1147=)
c.3402A>G (p.Arg1134=)
c.3126A>G (p.Arg1042=)
c.3087A>G (p.Arg1029=)
c.3477A>G (p.Arg1159=)
c.3384A>G (p.Arg1128=)
c.2859A>G (p.Arg953=)
c.3174A>G (p.Arg1058=)
n.7746A>G
3g.9473403A>TCA432365816SETD5n.1833A>T
c.3459A>T (p.Arg1153=)
n.3867A>T
n.932A>T
n.4438A>T
n.4794A>T
c.3363A>T (p.Arg1121=)
c.*3509A>T (n.*3509A>T)
c.*3432A>T (n.*3432A>T)
c.*3737A>T (n.*3737A>T)
c.*3468A>T (n.*3468A>T)
c.3069A>T (p.Arg1023=)
c.2365A>T
c.3420A>T (p.Arg1140=)
c.2399A>T
n.9A>T
n.2704A>T
n.431A>T
n.168A>T
n.3527A>T
c.3537A>T (p.Arg1179=)
c.3516A>T (p.Arg1172=)
c.3498A>T (p.Arg1166=)
c.3480A>T (p.Arg1160=)
c.3441A>T (p.Arg1147=)
c.3402A>T (p.Arg1134=)
c.3126A>T (p.Arg1042=)
c.3087A>T (p.Arg1029=)
c.3477A>T (p.Arg1159=)
c.3384A>T (p.Arg1128=)
c.2859A>T (p.Arg953=)
c.3174A>T (p.Arg1058=)
n.7746A>T
3g.9473404A>CCA351686012SETD5n.1834A>C
c.3460A>C (p.Thr1154Pro)
n.3868A>C
n.933A>C
n.4439A>C
n.4795A>C
c.3364A>C (p.Thr1122Pro)
c.*3510A>C (n.*3510A>C)
c.*3433A>C (n.*3433A>C)
c.*3738A>C (n.*3738A>C)
c.*3469A>C (n.*3469A>C)
c.3070A>C (p.Thr1024Pro)
c.2366A>C
c.3421A>C (p.Thr1141Pro)
c.2400A>C
n.10A>C
n.2705A>C
n.432A>C
n.169A>C
n.3528A>C
c.3538A>C (p.Thr1180Pro)
c.3517A>C (p.Thr1173Pro)
c.3499A>C (p.Thr1167Pro)
c.3481A>C (p.Thr1161Pro)
c.3442A>C (p.Thr1148Pro)
c.3403A>C (p.Thr1135Pro)
c.3127A>C (p.Thr1043Pro)
c.3088A>C (p.Thr1030Pro)
c.3478A>C (p.Thr1160Pro)
c.3385A>C (p.Thr1129Pro)
c.2860A>C (p.Thr954Pro)
c.3175A>C (p.Thr1059Pro)
n.7747A>C
3g.9473404A>GCA351686013SETD5n.1834A>G
c.3460A>G (p.Thr1154Ala)
n.3868A>G
n.933A>G
n.4439A>G
n.4795A>G
c.3364A>G (p.Thr1122Ala)
c.*3510A>G (n.*3510A>G)
c.*3433A>G (n.*3433A>G)
c.*3738A>G (n.*3738A>G)
c.*3469A>G (n.*3469A>G)
c.3070A>G (p.Thr1024Ala)
c.2366A>G
c.3421A>G (p.Thr1141Ala)
c.2400A>G
n.10A>G
n.2705A>G
n.432A>G
n.169A>G
n.3528A>G
c.3538A>G (p.Thr1180Ala)
c.3517A>G (p.Thr1173Ala)
c.3499A>G (p.Thr1167Ala)
c.3481A>G (p.Thr1161Ala)
c.3442A>G (p.Thr1148Ala)
c.3403A>G (p.Thr1135Ala)
c.3127A>G (p.Thr1043Ala)
c.3088A>G (p.Thr1030Ala)
c.3478A>G (p.Thr1160Ala)
c.3385A>G (p.Thr1129Ala)
c.2860A>G (p.Thr954Ala)
c.3175A>G (p.Thr1059Ala)
n.7747A>G
3g.9473404A>TCA351686014SETD5n.1834A>T
c.3460A>T (p.Thr1154Ser)
n.3868A>T
n.933A>T
n.4439A>T
n.4795A>T
c.3364A>T (p.Thr1122Ser)
c.*3510A>T (n.*3510A>T)
c.*3433A>T (n.*3433A>T)
c.*3738A>T (n.*3738A>T)
c.*3469A>T (n.*3469A>T)
c.3070A>T (p.Thr1024Ser)
c.2366A>T
c.3421A>T (p.Thr1141Ser)
c.2400A>T
n.10A>T
n.2705A>T
n.432A>T
n.169A>T
n.3528A>T
c.3538A>T (p.Thr1180Ser)
c.3517A>T (p.Thr1173Ser)
c.3499A>T (p.Thr1167Ser)
c.3481A>T (p.Thr1161Ser)
c.3442A>T (p.Thr1148Ser)
c.3403A>T (p.Thr1135Ser)
c.3127A>T (p.Thr1043Ser)
c.3088A>T (p.Thr1030Ser)
c.3478A>T (p.Thr1160Ser)
c.3385A>T (p.Thr1129Ser)
c.2860A>T (p.Thr954Ser)
c.3175A>T (p.Thr1059Ser)
n.7747A>T
3g.9473405C>ACA351686017SETD5n.1835C>A
c.3461C>A (p.Thr1154Asn)
n.3869C>A
n.934C>A
n.4440C>A
n.4796C>A
c.3365C>A (p.Thr1122Asn)
c.*3511C>A (n.*3511C>A)
c.*3434C>A (n.*3434C>A)
c.*3739C>A (n.*3739C>A)
c.*3470C>A (n.*3470C>A)
c.3071C>A (p.Thr1024Asn)
c.2367C>A
c.3422C>A (p.Thr1141Asn)
c.2401C>A
n.11C>A
n.2706C>A
n.433C>A
n.170C>A
n.3529C>A
c.3539C>A (p.Thr1180Asn)
c.3518C>A (p.Thr1173Asn)
c.3500C>A (p.Thr1167Asn)
c.3482C>A (p.Thr1161Asn)
c.3443C>A (p.Thr1148Asn)
c.3404C>A (p.Thr1135Asn)
c.3128C>A (p.Thr1043Asn)
c.3089C>A (p.Thr1030Asn)
c.3479C>A (p.Thr1160Asn)
c.3386C>A (p.Thr1129Asn)
c.2861C>A (p.Thr954Asn)
c.3176C>A (p.Thr1059Asn)
n.7748C>A
3g.9473405C=CA1344740285SETD5n.1835C=
c.3461C= (p.Thr1154=)
n.3869C=
n.934C=
n.4440C=
n.4796C=
c.3365C= (p.Thr1122=)
c.*3511C= (n.*3511C=)
c.*3434C= (n.*3434C=)
c.*3739C= (n.*3739C=)
c.*3470C= (n.*3470C=)
c.3071C= (p.Thr1024=)
c.2367C=
c.3422C= (p.Thr1141=)
c.2401C=
n.11C=
n.2706C=
n.433C=
n.170C=
n.3529C=
c.3539C= (p.Thr1180=)
c.3518C= (p.Thr1173=)
c.3500C= (p.Thr1167=)
c.3482C= (p.Thr1161=)
c.3443C= (p.Thr1148=)
c.3404C= (p.Thr1135=)
c.3128C= (p.Thr1043=)
c.3089C= (p.Thr1030=)
c.3479C= (p.Thr1160=)
c.3386C= (p.Thr1129=)
c.2861C= (p.Thr954=)
c.3176C= (p.Thr1059=)
n.7748C=
3g.9473405C>GCA351686019SETD5n.1835C>G
c.3461C>G (p.Thr1154Ser)
n.3869C>G
n.934C>G
n.4440C>G
n.4796C>G
c.3365C>G (p.Thr1122Ser)
c.*3511C>G (n.*3511C>G)
c.*3434C>G (n.*3434C>G)
c.*3739C>G (n.*3739C>G)
c.*3470C>G (n.*3470C>G)
c.3071C>G (p.Thr1024Ser)
c.2367C>G
c.3422C>G (p.Thr1141Ser)
c.2401C>G
n.11C>G
n.2706C>G
n.433C>G
n.170C>G
n.3529C>G
c.3539C>G (p.Thr1180Ser)
c.3518C>G (p.Thr1173Ser)
c.3500C>G (p.Thr1167Ser)
c.3482C>G (p.Thr1161Ser)
c.3443C>G (p.Thr1148Ser)
c.3404C>G (p.Thr1135Ser)
c.3128C>G (p.Thr1043Ser)
c.3089C>G (p.Thr1030Ser)
c.3479C>G (p.Thr1160Ser)
c.3386C>G (p.Thr1129Ser)
c.2861C>G (p.Thr954Ser)
c.3176C>G (p.Thr1059Ser)
n.7748C>G
3g.9473405C>TCA2239678SETD5n.1835C>T
c.3461C>T (p.Thr1154Ile)
n.3869C>T
n.934C>T
n.4440C>T
n.4796C>T
c.3365C>T (p.Thr1122Ile)
c.*3511C>T (n.*3511C>T)
c.*3434C>T (n.*3434C>T)
c.*3739C>T (n.*3739C>T)
c.*3470C>T (n.*3470C>T)
c.3071C>T (p.Thr1024Ile)
c.2367C>T
c.3422C>T (p.Thr1141Ile)
c.2401C>T
n.11C>T
n.2706C>T
n.433C>T
n.170C>T
n.3529C>T
c.3539C>T (p.Thr1180Ile)
c.3518C>T (p.Thr1173Ile)
c.3500C>T (p.Thr1167Ile)
c.3482C>T (p.Thr1161Ile)
c.3443C>T (p.Thr1148Ile)
c.3404C>T (p.Thr1135Ile)
c.3128C>T (p.Thr1043Ile)
c.3089C>T (p.Thr1030Ile)
c.3479C>T (p.Thr1160Ile)
c.3386C>T (p.Thr1129Ile)
c.2861C>T (p.Thr954Ile)
c.3176C>T (p.Thr1059Ile)
n.7748C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.9473406T>ACA432365817SETD5n.1836T>A
c.3462T>A (p.Thr1154=)
n.3870T>A
n.935T>A
n.4441T>A
n.4797T>A
c.3366T>A (p.Thr1122=)
c.*3512T>A (n.*3512T>A)
c.*3435T>A (n.*3435T>A)
c.*3740T>A (n.*3740T>A)
c.*3471T>A (n.*3471T>A)
c.3072T>A (p.Thr1024=)
c.2368T>A
c.3423T>A (p.Thr1141=)
c.2402T>A
n.12T>A
n.2707T>A
n.434T>A
n.171T>A
n.3530T>A
c.3540T>A (p.Thr1180=)
c.3519T>A (p.Thr1173=)
c.3501T>A (p.Thr1167=)
c.3483T>A (p.Thr1161=)
c.3444T>A (p.Thr1148=)
c.3405T>A (p.Thr1135=)
c.3129T>A (p.Thr1043=)
c.3090T>A (p.Thr1030=)
c.3480T>A (p.Thr1160=)
c.3387T>A (p.Thr1129=)
c.2862T>A (p.Thr954=)
c.3177T>A (p.Thr1059=)
n.7749T>A
3g.9473406T>CCA432365818SETD5n.1836T>C
c.3462T>C (p.Thr1154=)
n.3870T>C
n.935T>C
n.4441T>C
n.4797T>C
c.3366T>C (p.Thr1122=)
c.*3512T>C (n.*3512T>C)
c.*3435T>C (n.*3435T>C)
c.*3740T>C (n.*3740T>C)
c.*3471T>C (n.*3471T>C)
c.3072T>C (p.Thr1024=)
c.2368T>C
c.3423T>C (p.Thr1141=)
c.2402T>C
n.12T>C
n.2707T>C
n.434T>C
n.171T>C
n.3530T>C
c.3540T>C (p.Thr1180=)
c.3519T>C (p.Thr1173=)
c.3501T>C (p.Thr1167=)
c.3483T>C (p.Thr1161=)
c.3444T>C (p.Thr1148=)
c.3405T>C (p.Thr1135=)
c.3129T>C (p.Thr1043=)
c.3090T>C (p.Thr1030=)
c.3480T>C (p.Thr1160=)
c.3387T>C (p.Thr1129=)
c.2862T>C (p.Thr954=)
c.3177T>C (p.Thr1059=)
n.7749T>C
3g.9473406T>GCA432365819SETD5n.1836T>G
c.3462T>G (p.Thr1154=)
n.3870T>G
n.935T>G
n.4441T>G
n.4797T>G
c.3366T>G (p.Thr1122=)
c.*3512T>G (n.*3512T>G)
c.*3435T>G (n.*3435T>G)
c.*3740T>G (n.*3740T>G)
c.*3471T>G (n.*3471T>G)
c.3072T>G (p.Thr1024=)
c.2368T>G
c.3423T>G (p.Thr1141=)
c.2402T>G
n.12T>G
n.2707T>G
n.434T>G
n.171T>G
n.3530T>G
c.3540T>G (p.Thr1180=)
c.3519T>G (p.Thr1173=)
c.3501T>G (p.Thr1167=)
c.3483T>G (p.Thr1161=)
c.3444T>G (p.Thr1148=)
c.3405T>G (p.Thr1135=)
c.3129T>G (p.Thr1043=)
c.3090T>G (p.Thr1030=)
c.3480T>G (p.Thr1160=)
c.3387T>G (p.Thr1129=)
c.2862T>G (p.Thr954=)
c.3177T>G (p.Thr1059=)
n.7749T>G
3g.9473407C>ACA351686022SETD5n.1837C>A
c.3463C>A (p.Pro1155Thr)
n.3871C>A
n.936C>A
n.4442C>A
n.4798C>A
c.3367C>A (p.Pro1123Thr)
c.*3513C>A (n.*3513C>A)
c.*3436C>A (n.*3436C>A)
c.*3741C>A (n.*3741C>A)
c.*3472C>A (n.*3472C>A)
c.3073C>A (p.Pro1025Thr)
c.2369C>A
c.3424C>A (p.Pro1142Thr)
c.2403C>A
n.13C>A
n.2708C>A
n.435C>A
n.172C>A
n.3531C>A
c.3541C>A (p.Pro1181Thr)
c.3520C>A (p.Pro1174Thr)
c.3502C>A (p.Pro1168Thr)
c.3484C>A (p.Pro1162Thr)
c.3445C>A (p.Pro1149Thr)
c.3406C>A (p.Pro1136Thr)
c.3130C>A (p.Pro1044Thr)
c.3091C>A (p.Pro1031Thr)
c.3481C>A (p.Pro1161Thr)
c.3388C>A (p.Pro1130Thr)
c.2863C>A (p.Pro955Thr)
c.3178C>A (p.Pro1060Thr)
n.7750C>A
3g.9473407C=CA1344740287SETD5n.1837C=
c.3463C= (p.Pro1155=)
n.3871C=
n.936C=
n.4442C=
n.4798C=
c.3367C= (p.Pro1123=)
c.*3513C= (n.*3513C=)
c.*3436C= (n.*3436C=)
c.*3741C= (n.*3741C=)
c.*3472C= (n.*3472C=)
c.3073C= (p.Pro1025=)
c.2369C=
c.3424C= (p.Pro1142=)
c.2403C=
n.13C=
n.2708C=
n.435C=
n.172C=
n.3531C=
c.3541C= (p.Pro1181=)
c.3520C= (p.Pro1174=)
c.3502C= (p.Pro1168=)
c.3484C= (p.Pro1162=)
c.3445C= (p.Pro1149=)
c.3406C= (p.Pro1136=)
c.3130C= (p.Pro1044=)
c.3091C= (p.Pro1031=)
c.3481C= (p.Pro1161=)
c.3388C= (p.Pro1130=)
c.2863C= (p.Pro955=)
c.3178C= (p.Pro1060=)
n.7750C=
3g.9473407C>GCA351686027SETD5n.1837C>G
c.3463C>G (p.Pro1155Ala)
n.3871C>G
n.936C>G
n.4442C>G
n.4798C>G
c.3367C>G (p.Pro1123Ala)
c.*3513C>G (n.*3513C>G)
c.*3436C>G (n.*3436C>G)
c.*3741C>G (n.*3741C>G)
c.*3472C>G (n.*3472C>G)
c.3073C>G (p.Pro1025Ala)
c.2369C>G
c.3424C>G (p.Pro1142Ala)
c.2403C>G
n.13C>G
n.2708C>G
n.435C>G
n.172C>G
n.3531C>G
c.3541C>G (p.Pro1181Ala)
c.3520C>G (p.Pro1174Ala)
c.3502C>G (p.Pro1168Ala)
c.3484C>G (p.Pro1162Ala)
c.3445C>G (p.Pro1149Ala)
c.3406C>G (p.Pro1136Ala)
c.3130C>G (p.Pro1044Ala)
c.3091C>G (p.Pro1031Ala)
c.3481C>G (p.Pro1161Ala)
c.3388C>G (p.Pro1130Ala)
c.2863C>G (p.Pro955Ala)
c.3178C>G (p.Pro1060Ala)
n.7750C>G
3g.9473407C>TCA351686025SETD5n.1837C>T
c.3463C>T (p.Pro1155Ser)
n.3871C>T
n.936C>T
n.4442C>T
n.4798C>T
c.3367C>T (p.Pro1123Ser)
c.*3513C>T (n.*3513C>T)
c.*3436C>T (n.*3436C>T)
c.*3741C>T (n.*3741C>T)
c.*3472C>T (n.*3472C>T)
c.3073C>T (p.Pro1025Ser)
c.2369C>T
c.3424C>T (p.Pro1142Ser)
c.2403C>T
n.13C>T
n.2708C>T
n.435C>T
n.172C>T
n.3531C>T
c.3541C>T (p.Pro1181Ser)
c.3520C>T (p.Pro1174Ser)
c.3502C>T (p.Pro1168Ser)
c.3484C>T (p.Pro1162Ser)
c.3445C>T (p.Pro1149Ser)
c.3406C>T (p.Pro1136Ser)
c.3130C>T (p.Pro1044Ser)
c.3091C>T (p.Pro1031Ser)
c.3481C>T (p.Pro1161Ser)
c.3388C>T (p.Pro1130Ser)
c.2863C>T (p.Pro955Ser)
c.3178C>T (p.Pro1060Ser)
n.7750C>T
3g.9473408dupCA2586971688SETD5n.1838dup
c.3464dup (p.Ser1156IlefsTer?)
n.3872dup
n.937dup
n.4443dup
n.4799dup
c.3368dup (p.Ser1124IlefsTer?)
c.*3514dup (n.*3514dup)
c.*3437dup (n.*3437dup)
c.*3742dup (n.*3742dup)
c.*3473dup (n.*3473dup)
c.3074dup (p.Ser1026IlefsTer?)
c.2370dup
c.3425dup (p.Ser1143IlefsTer?)
c.2404dup
n.14dup
n.2709dup
n.436dup
n.173dup
n.3532dup
c.3542dup (p.Ser1182IlefsTer?)
c.3521dup (p.Ser1175IlefsTer?)
c.3503dup (p.Ser1169IlefsTer?)
c.3485dup (p.Ser1163IlefsTer?)
c.3446dup (p.Ser1150IlefsTer?)
c.3407dup (p.Ser1137IlefsTer?)
c.3131dup (p.Ser1045IlefsTer?)
c.3092dup (p.Ser1032IlefsTer?)
c.3482dup (p.Ser1162IlefsTer?)
c.3389dup (p.Ser1131IlefsTer?)
c.2864dup (p.Ser956IlefsTer?)
c.3179dup (p.Ser1061IlefsTer?)
n.7751dup
3g.9473407_9473408insGCA1139657877SETD5n.1837_1838insG
c.3463_3464insG (p.Pro1155ArgfsTer?)
n.3871_3872insG
n.936_937insG
n.4442_4443insG
n.4798_4799insG
c.3367_3368insG (p.Pro1123ArgfsTer?)
c.*3513_*3514insG (n.*3513_*3514insG)
c.*3436_*3437insG (n.*3436_*3437insG)
c.*3741_*3742insG (n.*3741_*3742insG)
c.*3472_*3473insG (n.*3472_*3473insG)
c.3073_3074insG (p.Pro1025ArgfsTer?)
c.2369_2370insG
c.3424_3425insG (p.Pro1142ArgfsTer?)
c.2403_2404insG
n.13_14insG
n.2708_2709insG
n.435_436insG
n.172_173insG
n.3531_3532insG
c.3541_3542insG (p.Pro1181ArgfsTer?)
c.3520_3521insG (p.Pro1174ArgfsTer?)
c.3502_3503insG (p.Pro1168ArgfsTer?)
c.3484_3485insG (p.Pro1162ArgfsTer?)
c.3445_3446insG (p.Pro1149ArgfsTer?)
c.3406_3407insG (p.Pro1136ArgfsTer?)
c.3130_3131insG (p.Pro1044ArgfsTer?)
c.3091_3092insG (p.Pro1031ArgfsTer?)
c.3481_3482insG (p.Pro1161ArgfsTer?)
c.3388_3389insG (p.Pro1130ArgfsTer?)
c.2863_2864insG (p.Pro955ArgfsTer?)
c.3178_3179insG (p.Pro1060ArgfsTer?)
n.7750_7751insG
 ClinVar dbSNP
3g.9473408C>ACA351686028SETD5n.1838C>A
c.3464C>A (p.Pro1155Gln)
n.3872C>A
n.937C>A
n.4443C>A
n.4799C>A
c.3368C>A (p.Pro1123Gln)
c.*3514C>A (n.*3514C>A)
c.*3437C>A (n.*3437C>A)
c.*3742C>A (n.*3742C>A)
c.*3473C>A (n.*3473C>A)
c.3074C>A (p.Pro1025Gln)
c.2370C>A
c.3425C>A (p.Pro1142Gln)
c.2404C>A
n.14C>A
n.2709C>A
n.436C>A
n.173C>A
n.3532C>A
c.3542C>A (p.Pro1181Gln)
c.3521C>A (p.Pro1174Gln)
c.3503C>A (p.Pro1168Gln)
c.3485C>A (p.Pro1162Gln)
c.3446C>A (p.Pro1149Gln)
c.3407C>A (p.Pro1136Gln)
c.3131C>A (p.Pro1044Gln)
c.3092C>A (p.Pro1031Gln)
c.3482C>A (p.Pro1161Gln)
c.3389C>A (p.Pro1130Gln)
c.2864C>A (p.Pro955Gln)
c.3179C>A (p.Pro1060Gln)
n.7751C>A
3g.9473408C=CA1344740291SETD5n.1838C=
c.3464C= (p.Pro1155=)
n.3872C=
n.937C=
n.4443C=
n.4799C=
c.3368C= (p.Pro1123=)
c.*3514C= (n.*3514C=)
c.*3437C= (n.*3437C=)
c.*3742C= (n.*3742C=)
c.*3473C= (n.*3473C=)
c.3074C= (p.Pro1025=)
c.2370C=
c.3425C= (p.Pro1142=)
c.2404C=
n.14C=
n.2709C=
n.436C=
n.173C=
n.3532C=
c.3542C= (p.Pro1181=)
c.3521C= (p.Pro1174=)
c.3503C= (p.Pro1168=)
c.3485C= (p.Pro1162=)
c.3446C= (p.Pro1149=)
c.3407C= (p.Pro1136=)
c.3131C= (p.Pro1044=)
c.3092C= (p.Pro1031=)
c.3482C= (p.Pro1161=)
c.3389C= (p.Pro1130=)
c.2864C= (p.Pro955=)
c.3179C= (p.Pro1060=)
n.7751C=
3g.9473408C>GCA351686032SETD5n.1838C>G
c.3464C>G (p.Pro1155Arg)
n.3872C>G
n.937C>G
n.4443C>G
n.4799C>G
c.3368C>G (p.Pro1123Arg)
c.*3514C>G (n.*3514C>G)
c.*3437C>G (n.*3437C>G)
c.*3742C>G (n.*3742C>G)
c.*3473C>G (n.*3473C>G)
c.3074C>G (p.Pro1025Arg)
c.2370C>G
c.3425C>G (p.Pro1142Arg)
c.2404C>G
n.14C>G
n.2709C>G
n.436C>G
n.173C>G
n.3532C>G
c.3542C>G (p.Pro1181Arg)
c.3521C>G (p.Pro1174Arg)
c.3503C>G (p.Pro1168Arg)
c.3485C>G (p.Pro1162Arg)
c.3446C>G (p.Pro1149Arg)
c.3407C>G (p.Pro1136Arg)
c.3131C>G (p.Pro1044Arg)
c.3092C>G (p.Pro1031Arg)
c.3482C>G (p.Pro1161Arg)
c.3389C>G (p.Pro1130Arg)
c.2864C>G (p.Pro955Arg)
c.3179C>G (p.Pro1060Arg)
n.7751C>G
3g.9473408C>TCA351686029SETD5n.1838C>T
c.3464C>T (p.Pro1155Leu)
n.3872C>T
n.937C>T
n.4443C>T
n.4799C>T
c.3368C>T (p.Pro1123Leu)
c.*3514C>T (n.*3514C>T)
c.*3437C>T (n.*3437C>T)
c.*3742C>T (n.*3742C>T)
c.*3473C>T (n.*3473C>T)
c.3074C>T (p.Pro1025Leu)
c.2370C>T
c.3425C>T (p.Pro1142Leu)
c.2404C>T
n.14C>T
n.2709C>T
n.436C>T
n.173C>T
n.3532C>T
c.3542C>T (p.Pro1181Leu)
c.3521C>T (p.Pro1174Leu)
c.3503C>T (p.Pro1168Leu)
c.3485C>T (p.Pro1162Leu)
c.3446C>T (p.Pro1149Leu)
c.3407C>T (p.Pro1136Leu)
c.3131C>T (p.Pro1044Leu)
c.3092C>T (p.Pro1031Leu)
c.3482C>T (p.Pro1161Leu)
c.3389C>T (p.Pro1130Leu)
c.2864C>T (p.Pro955Leu)
c.3179C>T (p.Pro1060Leu)
n.7751C>T
 ClinVar dbSNP
3g.9473409A=CA1344740297SETD5n.1839A=
c.3465A= (p.Pro1155=)
n.3873A=
n.938A=
n.4444A=
n.4800A=
c.3369A= (p.Pro1123=)
c.*3515A= (n.*3515A=)
c.*3438A= (n.*3438A=)
c.*3743A= (n.*3743A=)
c.*3474A= (n.*3474A=)
c.3075A= (p.Pro1025=)
c.2371A=
c.3426A= (p.Pro1142=)
c.2405A=
n.15A=
n.2710A=
n.437A=
n.174A=
n.3533A=
c.3543A= (p.Pro1181=)
c.3522A= (p.Pro1174=)
c.3504A= (p.Pro1168=)
c.3486A= (p.Pro1162=)
c.3447A= (p.Pro1149=)
c.3408A= (p.Pro1136=)
c.3132A= (p.Pro1044=)
c.3093A= (p.Pro1031=)
c.3483A= (p.Pro1161=)
c.3390A= (p.Pro1130=)
c.2865A= (p.Pro955=)
c.3180A= (p.Pro1060=)
n.7752A=
3g.9473409A>CCA432365821SETD5n.1839A>C
c.3465A>C (p.Pro1155=)
n.3873A>C
n.938A>C
n.4444A>C
n.4800A>C
c.3369A>C (p.Pro1123=)
c.*3515A>C (n.*3515A>C)
c.*3438A>C (n.*3438A>C)
c.*3743A>C (n.*3743A>C)
c.*3474A>C (n.*3474A>C)
c.3075A>C (p.Pro1025=)
c.2371A>C
c.3426A>C (p.Pro1142=)
c.2405A>C
n.15A>C
n.2710A>C
n.437A>C
n.174A>C
n.3533A>C
c.3543A>C (p.Pro1181=)
c.3522A>C (p.Pro1174=)
c.3504A>C (p.Pro1168=)
c.3486A>C (p.Pro1162=)
c.3447A>C (p.Pro1149=)
c.3408A>C (p.Pro1136=)
c.3132A>C (p.Pro1044=)
c.3093A>C (p.Pro1031=)
c.3483A>C (p.Pro1161=)
c.3390A>C (p.Pro1130=)
c.2865A>C (p.Pro955=)
c.3180A>C (p.Pro1060=)
n.7752A>C
3g.9473409A>GCA2239679SETD5n.1839A>G
c.3465A>G (p.Pro1155=)
n.3873A>G
n.938A>G
n.4444A>G
n.4800A>G
c.3369A>G (p.Pro1123=)
c.*3515A>G (n.*3515A>G)
c.*3438A>G (n.*3438A>G)
c.*3743A>G (n.*3743A>G)
c.*3474A>G (n.*3474A>G)
c.3075A>G (p.Pro1025=)
c.2371A>G
c.3426A>G (p.Pro1142=)
c.2405A>G
n.15A>G
n.2710A>G
n.437A>G
n.174A>G
n.3533A>G
c.3543A>G (p.Pro1181=)
c.3522A>G (p.Pro1174=)
c.3504A>G (p.Pro1168=)
c.3486A>G (p.Pro1162=)
c.3447A>G (p.Pro1149=)
c.3408A>G (p.Pro1136=)
c.3132A>G (p.Pro1044=)
c.3093A>G (p.Pro1031=)
c.3483A>G (p.Pro1161=)
c.3390A>G (p.Pro1130=)
c.2865A>G (p.Pro955=)
c.3180A>G (p.Pro1060=)
n.7752A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9473409A>TCA432365820SETD5n.1839A>T
c.3465A>T (p.Pro1155=)
n.3873A>T
n.938A>T
n.4444A>T
n.4800A>T
c.3369A>T (p.Pro1123=)
c.*3515A>T (n.*3515A>T)
c.*3438A>T (n.*3438A>T)
c.*3743A>T (n.*3743A>T)
c.*3474A>T (n.*3474A>T)
c.3075A>T (p.Pro1025=)
c.2371A>T
c.3426A>T (p.Pro1142=)
c.2405A>T
n.15A>T
n.2710A>T
n.437A>T
n.174A>T
n.3533A>T
c.3543A>T (p.Pro1181=)
c.3522A>T (p.Pro1174=)
c.3504A>T (p.Pro1168=)
c.3486A>T (p.Pro1162=)
c.3447A>T (p.Pro1149=)
c.3408A>T (p.Pro1136=)
c.3132A>T (p.Pro1044=)
c.3093A>T (p.Pro1031=)
c.3483A>T (p.Pro1161=)
c.3390A>T (p.Pro1130=)
c.2865A>T (p.Pro955=)
c.3180A>T (p.Pro1060=)
n.7752A>T
 ClinVar gnomAD v4
3g.9473410T>ACA351686039SETD5n.1840T>A
c.3466T>A (p.Ser1156Thr)
n.3874T>A
n.939T>A
n.4445T>A
n.4801T>A
c.3370T>A (p.Ser1124Thr)
c.*3516T>A (n.*3516T>A)
c.*3439T>A (n.*3439T>A)
c.*3744T>A (n.*3744T>A)
c.*3475T>A (n.*3475T>A)
c.3076T>A (p.Ser1026Thr)
c.2372T>A
c.3427T>A (p.Ser1143Thr)
c.2406T>A
n.16T>A
n.2711T>A
n.438T>A
n.175T>A
n.3534T>A
c.3544T>A (p.Ser1182Thr)
c.3523T>A (p.Ser1175Thr)
c.3505T>A (p.Ser1169Thr)
c.3487T>A (p.Ser1163Thr)
c.3448T>A (p.Ser1150Thr)
c.3409T>A (p.Ser1137Thr)
c.3133T>A (p.Ser1045Thr)
c.3094T>A (p.Ser1032Thr)
c.3484T>A (p.Ser1162Thr)
c.3391T>A (p.Ser1131Thr)
c.2866T>A (p.Ser956Thr)
c.3181T>A (p.Ser1061Thr)
n.7753T>A
 dbSNP
3g.9473410T>CCA351686035SETD5n.1840T>C
c.3466T>C (p.Ser1156Pro)
n.3874T>C
n.939T>C
n.4445T>C
n.4801T>C
c.3370T>C (p.Ser1124Pro)
c.*3516T>C (n.*3516T>C)
c.*3439T>C (n.*3439T>C)
c.*3744T>C (n.*3744T>C)
c.*3475T>C (n.*3475T>C)
c.3076T>C (p.Ser1026Pro)
c.2372T>C
c.3427T>C (p.Ser1143Pro)
c.2406T>C
n.16T>C
n.2711T>C
n.438T>C
n.175T>C
n.3534T>C
c.3544T>C (p.Ser1182Pro)
c.3523T>C (p.Ser1175Pro)
c.3505T>C (p.Ser1169Pro)
c.3487T>C (p.Ser1163Pro)
c.3448T>C (p.Ser1150Pro)
c.3409T>C (p.Ser1137Pro)
c.3133T>C (p.Ser1045Pro)
c.3094T>C (p.Ser1032Pro)
c.3484T>C (p.Ser1162Pro)
c.3391T>C (p.Ser1131Pro)
c.2866T>C (p.Ser956Pro)
c.3181T>C (p.Ser1061Pro)
n.7753T>C
3g.9473410T>GCA351686038SETD5n.1840T>G
c.3466T>G (p.Ser1156Ala)
n.3874T>G
n.939T>G
n.4445T>G
n.4801T>G
c.3370T>G (p.Ser1124Ala)
c.*3516T>G (n.*3516T>G)
c.*3439T>G (n.*3439T>G)
c.*3744T>G (n.*3744T>G)
c.*3475T>G (n.*3475T>G)
c.3076T>G (p.Ser1026Ala)
c.2372T>G
c.3427T>G (p.Ser1143Ala)
c.2406T>G
n.16T>G
n.2711T>G
n.438T>G
n.175T>G
n.3534T>G
c.3544T>G (p.Ser1182Ala)
c.3523T>G (p.Ser1175Ala)
c.3505T>G (p.Ser1169Ala)
c.3487T>G (p.Ser1163Ala)
c.3448T>G (p.Ser1150Ala)
c.3409T>G (p.Ser1137Ala)
c.3133T>G (p.Ser1045Ala)
c.3094T>G (p.Ser1032Ala)
c.3484T>G (p.Ser1162Ala)
c.3391T>G (p.Ser1131Ala)
c.2866T>G (p.Ser956Ala)
c.3181T>G (p.Ser1061Ala)
n.7753T>G
3g.9473410T=CA1344740301SETD5n.1840T=
c.3466T= (p.Ser1156=)
n.3874T=
n.939T=
n.4445T=
n.4801T=
c.3370T= (p.Ser1124=)
c.*3516T= (n.*3516T=)
c.*3439T= (n.*3439T=)
c.*3744T= (n.*3744T=)
c.*3475T= (n.*3475T=)
c.3076T= (p.Ser1026=)
c.2372T=
c.3427T= (p.Ser1143=)
c.2406T=
n.16T=
n.2711T=
n.438T=
n.175T=
n.3534T=
c.3544T= (p.Ser1182=)
c.3523T= (p.Ser1175=)
c.3505T= (p.Ser1169=)
c.3487T= (p.Ser1163=)
c.3448T= (p.Ser1150=)
c.3409T= (p.Ser1137=)
c.3133T= (p.Ser1045=)
c.3094T= (p.Ser1032=)
c.3484T= (p.Ser1162=)
c.3391T= (p.Ser1131=)
c.2866T= (p.Ser956=)
c.3181T= (p.Ser1061=)
n.7753T=

Number of alleles fetched