Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.9475529A>CCA351690851SETD5n.2722A>C
c.3863A>C (p.Gln1288Pro)
n.4756A>C
n.2147A>C
n.6564A>C
n.6009A>C
c.3767A>C (p.Gln1256Pro)
c.*3913A>C (n.*3913A>C)
c.*3836A>C (n.*3836A>C)
c.*4141A>C (n.*4141A>C)
c.*3872A>C (n.*3872A>C)
c.3473A>C (p.Gln1158Pro)
c.2722+373A>C
c.3824A>C (p.Gln1275Pro)
c.2803A>C
n.898A>C
n.3108A>C
n.154A>C
n.3931A>C
c.3941A>C (p.Gln1314Pro)
c.3920A>C (p.Gln1307Pro)
c.3902A>C (p.Gln1301Pro)
c.3884A>C (p.Gln1295Pro)
c.3845A>C (p.Gln1282Pro)
c.3806A>C (p.Gln1269Pro)
c.3530A>C (p.Gln1177Pro)
c.3491A>C (p.Gln1164Pro)
c.3881A>C (p.Gln1294Pro)
c.3788A>C (p.Gln1263Pro)
c.3263A>C (p.Gln1088Pro)
c.3578A>C (p.Gln1193Pro)
n.8150A>C
3g.9475529A>GCA351690854SETD5n.2722A>G
c.3863A>G (p.Gln1288Arg)
n.4756A>G
n.2147A>G
n.6564A>G
n.6009A>G
c.3767A>G (p.Gln1256Arg)
c.*3913A>G (n.*3913A>G)
c.*3836A>G (n.*3836A>G)
c.*4141A>G (n.*4141A>G)
c.*3872A>G (n.*3872A>G)
c.3473A>G (p.Gln1158Arg)
c.2722+373A>G
c.3824A>G (p.Gln1275Arg)
c.2803A>G
n.898A>G
n.3108A>G
n.154A>G
n.3931A>G
c.3941A>G (p.Gln1314Arg)
c.3920A>G (p.Gln1307Arg)
c.3902A>G (p.Gln1301Arg)
c.3884A>G (p.Gln1295Arg)
c.3845A>G (p.Gln1282Arg)
c.3806A>G (p.Gln1269Arg)
c.3530A>G (p.Gln1177Arg)
c.3491A>G (p.Gln1164Arg)
c.3881A>G (p.Gln1294Arg)
c.3788A>G (p.Gln1263Arg)
c.3263A>G (p.Gln1088Arg)
c.3578A>G (p.Gln1193Arg)
n.8150A>G
3g.9475529A>TCA351690860SETD5n.2722A>T
c.3863A>T (p.Gln1288Leu)
n.4756A>T
n.2147A>T
n.6564A>T
n.6009A>T
c.3767A>T (p.Gln1256Leu)
c.*3913A>T (n.*3913A>T)
c.*3836A>T (n.*3836A>T)
c.*4141A>T (n.*4141A>T)
c.*3872A>T (n.*3872A>T)
c.3473A>T (p.Gln1158Leu)
c.2722+373A>T
c.3824A>T (p.Gln1275Leu)
c.2803A>T
n.898A>T
n.3108A>T
n.154A>T
n.3931A>T
c.3941A>T (p.Gln1314Leu)
c.3920A>T (p.Gln1307Leu)
c.3902A>T (p.Gln1301Leu)
c.3884A>T (p.Gln1295Leu)
c.3845A>T (p.Gln1282Leu)
c.3806A>T (p.Gln1269Leu)
c.3530A>T (p.Gln1177Leu)
c.3491A>T (p.Gln1164Leu)
c.3881A>T (p.Gln1294Leu)
c.3788A>T (p.Gln1263Leu)
c.3263A>T (p.Gln1088Leu)
c.3578A>T (p.Gln1193Leu)
n.8150A>T
3g.9475530G>ACA432528392SETD5n.2723G>A
c.3864G>A (p.Gln1288=)
n.4757G>A
n.2148G>A
n.6565G>A
n.6010G>A
c.3768G>A (p.Gln1256=)
c.*3914G>A (n.*3914G>A)
c.*3837G>A (n.*3837G>A)
c.*4142G>A (n.*4142G>A)
c.*3873G>A (n.*3873G>A)
c.3474G>A (p.Gln1158=)
c.2722+374G>A
c.3825G>A (p.Gln1275=)
c.2804G>A
n.899G>A
n.3109G>A
n.155G>A
n.3932G>A
c.3942G>A (p.Gln1314=)
c.3921G>A (p.Gln1307=)
c.3903G>A (p.Gln1301=)
c.3885G>A (p.Gln1295=)
c.3846G>A (p.Gln1282=)
c.3807G>A (p.Gln1269=)
c.3531G>A (p.Gln1177=)
c.3492G>A (p.Gln1164=)
c.3882G>A (p.Gln1294=)
c.3789G>A (p.Gln1263=)
c.3264G>A (p.Gln1088=)
c.3579G>A (p.Gln1193=)
n.8151G>A
3g.9475530G>CCA351690863SETD5n.2723G>C
c.3864G>C (p.Gln1288His)
n.4757G>C
n.2148G>C
n.6565G>C
n.6010G>C
c.3768G>C (p.Gln1256His)
c.*3914G>C (n.*3914G>C)
c.*3837G>C (n.*3837G>C)
c.*4142G>C (n.*4142G>C)
c.*3873G>C (n.*3873G>C)
c.3474G>C (p.Gln1158His)
c.2722+374G>C
c.3825G>C (p.Gln1275His)
c.2804G>C
n.899G>C
n.3109G>C
n.155G>C
n.3932G>C
c.3942G>C (p.Gln1314His)
c.3921G>C (p.Gln1307His)
c.3903G>C (p.Gln1301His)
c.3885G>C (p.Gln1295His)
c.3846G>C (p.Gln1282His)
c.3807G>C (p.Gln1269His)
c.3531G>C (p.Gln1177His)
c.3492G>C (p.Gln1164His)
c.3882G>C (p.Gln1294His)
c.3789G>C (p.Gln1263His)
c.3264G>C (p.Gln1088His)
c.3579G>C (p.Gln1193His)
n.8151G>C
3g.9475530G>TCA351690865SETD5n.2723G>T
c.3864G>T (p.Gln1288His)
n.4757G>T
n.2148G>T
n.6565G>T
n.6010G>T
c.3768G>T (p.Gln1256His)
c.*3914G>T (n.*3914G>T)
c.*3837G>T (n.*3837G>T)
c.*4142G>T (n.*4142G>T)
c.*3873G>T (n.*3873G>T)
c.3474G>T (p.Gln1158His)
c.2722+374G>T
c.3825G>T (p.Gln1275His)
c.2804G>T
n.899G>T
n.3109G>T
n.155G>T
n.3932G>T
c.3942G>T (p.Gln1314His)
c.3921G>T (p.Gln1307His)
c.3903G>T (p.Gln1301His)
c.3885G>T (p.Gln1295His)
c.3846G>T (p.Gln1282His)
c.3807G>T (p.Gln1269His)
c.3531G>T (p.Gln1177His)
c.3492G>T (p.Gln1164His)
c.3882G>T (p.Gln1294His)
c.3789G>T (p.Gln1263His)
c.3264G>T (p.Gln1088His)
c.3579G>T (p.Gln1193His)
n.8151G>T
3g.9475531C>ACA351690868SETD5n.2724C>A
c.3865C>A (p.Gln1289Lys)
n.4758C>A
n.2149C>A
n.6566C>A
n.6011C>A
c.3769C>A (p.Gln1257Lys)
c.*3915C>A (n.*3915C>A)
c.*3838C>A (n.*3838C>A)
c.*4143C>A (n.*4143C>A)
c.*3874C>A (n.*3874C>A)
c.3475C>A (p.Gln1159Lys)
c.2722+375C>A
c.3826C>A (p.Gln1276Lys)
c.2805C>A
n.900C>A
n.3110C>A
n.156C>A
n.3933C>A
c.3943C>A (p.Gln1315Lys)
c.3922C>A (p.Gln1308Lys)
c.3904C>A (p.Gln1302Lys)
c.3886C>A (p.Gln1296Lys)
c.3847C>A (p.Gln1283Lys)
c.3808C>A (p.Gln1270Lys)
c.3532C>A (p.Gln1178Lys)
c.3493C>A (p.Gln1165Lys)
c.3883C>A (p.Gln1295Lys)
c.3790C>A (p.Gln1264Lys)
c.3265C>A (p.Gln1089Lys)
c.3580C>A (p.Gln1194Lys)
n.8152C>A
3g.9475531C>GCA351690869SETD5n.2724C>G
c.3865C>G (p.Gln1289Glu)
n.4758C>G
n.2149C>G
n.6566C>G
n.6011C>G
c.3769C>G (p.Gln1257Glu)
c.*3915C>G (n.*3915C>G)
c.*3838C>G (n.*3838C>G)
c.*4143C>G (n.*4143C>G)
c.*3874C>G (n.*3874C>G)
c.3475C>G (p.Gln1159Glu)
c.2722+375C>G
c.3826C>G (p.Gln1276Glu)
c.2805C>G
n.900C>G
n.3110C>G
n.156C>G
n.3933C>G
c.3943C>G (p.Gln1315Glu)
c.3922C>G (p.Gln1308Glu)
c.3904C>G (p.Gln1302Glu)
c.3886C>G (p.Gln1296Glu)
c.3847C>G (p.Gln1283Glu)
c.3808C>G (p.Gln1270Glu)
c.3532C>G (p.Gln1178Glu)
c.3493C>G (p.Gln1165Glu)
c.3883C>G (p.Gln1295Glu)
c.3790C>G (p.Gln1264Glu)
c.3265C>G (p.Gln1089Glu)
c.3580C>G (p.Gln1194Glu)
n.8152C>G
3g.9475531C>TCA351690872SETD5n.2724C>T
c.3865C>T (p.Gln1289Ter)
n.4758C>T
n.2149C>T
n.6566C>T
n.6011C>T
c.3769C>T (p.Gln1257Ter)
c.*3915C>T (n.*3915C>T)
c.*3838C>T (n.*3838C>T)
c.*4143C>T (n.*4143C>T)
c.*3874C>T (n.*3874C>T)
c.3475C>T (p.Gln1159Ter)
c.2722+375C>T
c.3826C>T (p.Gln1276Ter)
c.2805C>T
n.900C>T
n.3110C>T
n.156C>T
n.3933C>T
c.3943C>T (p.Gln1315Ter)
c.3922C>T (p.Gln1308Ter)
c.3904C>T (p.Gln1302Ter)
c.3886C>T (p.Gln1296Ter)
c.3847C>T (p.Gln1283Ter)
c.3808C>T (p.Gln1270Ter)
c.3532C>T (p.Gln1178Ter)
c.3493C>T (p.Gln1165Ter)
c.3883C>T (p.Gln1295Ter)
c.3790C>T (p.Gln1264Ter)
c.3265C>T (p.Gln1089Ter)
c.3580C>T (p.Gln1194Ter)
n.8152C>T
3g.9475532A=CA1344742331SETD5n.2725A=
c.3866A= (p.Gln1289=)
n.4759A=
n.2150A=
n.6567A=
n.6012A=
c.3770A= (p.Gln1257=)
c.*3916A= (n.*3916A=)
c.*3839A= (n.*3839A=)
c.*4144A= (n.*4144A=)
c.*3875A= (n.*3875A=)
c.3476A= (p.Gln1159=)
c.2722+376A=
c.3827A= (p.Gln1276=)
c.2806A=
n.901A=
n.3111A=
n.157A=
n.3934A=
c.3944A= (p.Gln1315=)
c.3923A= (p.Gln1308=)
c.3905A= (p.Gln1302=)
c.3887A= (p.Gln1296=)
c.3848A= (p.Gln1283=)
c.3809A= (p.Gln1270=)
c.3533A= (p.Gln1178=)
c.3494A= (p.Gln1165=)
c.3884A= (p.Gln1295=)
c.3791A= (p.Gln1264=)
c.3266A= (p.Gln1089=)
c.3581A= (p.Gln1194=)
n.8153A=
3g.9475532A>CCA351690876SETD5n.2725A>C
c.3866A>C (p.Gln1289Pro)
n.4759A>C
n.2150A>C
n.6567A>C
n.6012A>C
c.3770A>C (p.Gln1257Pro)
c.*3916A>C (n.*3916A>C)
c.*3839A>C (n.*3839A>C)
c.*4144A>C (n.*4144A>C)
c.*3875A>C (n.*3875A>C)
c.3476A>C (p.Gln1159Pro)
c.2722+376A>C
c.3827A>C (p.Gln1276Pro)
c.2806A>C
n.901A>C
n.3111A>C
n.157A>C
n.3934A>C
c.3944A>C (p.Gln1315Pro)
c.3923A>C (p.Gln1308Pro)
c.3905A>C (p.Gln1302Pro)
c.3887A>C (p.Gln1296Pro)
c.3848A>C (p.Gln1283Pro)
c.3809A>C (p.Gln1270Pro)
c.3533A>C (p.Gln1178Pro)
c.3494A>C (p.Gln1165Pro)
c.3884A>C (p.Gln1295Pro)
c.3791A>C (p.Gln1264Pro)
c.3266A>C (p.Gln1089Pro)
c.3581A>C (p.Gln1194Pro)
n.8153A>C
3g.9475532A>GCA2239797SETD5n.2725A>G
c.3866A>G (p.Gln1289Arg)
n.4759A>G
n.2150A>G
n.6567A>G
n.6012A>G
c.3770A>G (p.Gln1257Arg)
c.*3916A>G (n.*3916A>G)
c.*3839A>G (n.*3839A>G)
c.*4144A>G (n.*4144A>G)
c.*3875A>G (n.*3875A>G)
c.3476A>G (p.Gln1159Arg)
c.2722+376A>G
c.3827A>G (p.Gln1276Arg)
c.2806A>G
n.901A>G
n.3111A>G
n.157A>G
n.3934A>G
c.3944A>G (p.Gln1315Arg)
c.3923A>G (p.Gln1308Arg)
c.3905A>G (p.Gln1302Arg)
c.3887A>G (p.Gln1296Arg)
c.3848A>G (p.Gln1283Arg)
c.3809A>G (p.Gln1270Arg)
c.3533A>G (p.Gln1178Arg)
c.3494A>G (p.Gln1165Arg)
c.3884A>G (p.Gln1295Arg)
c.3791A>G (p.Gln1264Arg)
c.3266A>G (p.Gln1089Arg)
c.3581A>G (p.Gln1194Arg)
n.8153A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.9475532A>TCA351690880SETD5n.2725A>T
c.3866A>T (p.Gln1289Leu)
n.4759A>T
n.2150A>T
n.6567A>T
n.6012A>T
c.3770A>T (p.Gln1257Leu)
c.*3916A>T (n.*3916A>T)
c.*3839A>T (n.*3839A>T)
c.*4144A>T (n.*4144A>T)
c.*3875A>T (n.*3875A>T)
c.3476A>T (p.Gln1159Leu)
c.2722+376A>T
c.3827A>T (p.Gln1276Leu)
c.2806A>T
n.901A>T
n.3111A>T
n.157A>T
n.3934A>T
c.3944A>T (p.Gln1315Leu)
c.3923A>T (p.Gln1308Leu)
c.3905A>T (p.Gln1302Leu)
c.3887A>T (p.Gln1296Leu)
c.3848A>T (p.Gln1283Leu)
c.3809A>T (p.Gln1270Leu)
c.3533A>T (p.Gln1178Leu)
c.3494A>T (p.Gln1165Leu)
c.3884A>T (p.Gln1295Leu)
c.3791A>T (p.Gln1264Leu)
c.3266A>T (p.Gln1089Leu)
c.3581A>T (p.Gln1194Leu)
n.8153A>T
3g.9475534_9475535delCA2573050866SETD5n.2727_2728del
c.3868_3869del (p.Ser1290PhefsTer?)
n.4761_4762del
n.2152_2153del
n.6569_6570del
n.6014_6015del
c.3772_3773del (p.Ser1258PhefsTer?)
c.*3918_*3919del (n.*3918_*3919del)
c.*3841_*3842del (n.*3841_*3842del)
c.*4146_*4147del (n.*4146_*4147del)
c.*3877_*3878del (n.*3877_*3878del)
c.3478_3479del (p.Ser1160PhefsTer?)
c.2722+378_2722+379del
c.3829_3830del (p.Ser1277PhefsTer?)
c.2808_2809del
n.903_904del
n.3113_3114del
n.159_160del
n.3936_3937del
c.3946_3947del (p.Ser1316PhefsTer?)
c.3925_3926del (p.Ser1309PhefsTer?)
c.3907_3908del (p.Ser1303PhefsTer?)
c.3889_3890del (p.Ser1297PhefsTer?)
c.3850_3851del (p.Ser1284PhefsTer?)
c.3811_3812del (p.Ser1271PhefsTer?)
c.3535_3536del (p.Ser1179PhefsTer?)
c.3496_3497del (p.Ser1166PhefsTer?)
c.3886_3887del (p.Ser1296PhefsTer?)
c.3793_3794del (p.Ser1265PhefsTer?)
c.3268_3269del (p.Ser1090PhefsTer?)
c.3583_3584del (p.Ser1195PhefsTer?)
n.8155_8156del
 ClinVar
3g.9475533G>ACA432528397SETD5n.2726G>A
c.3867G>A (p.Gln1289=)
n.4760G>A
n.2151G>A
n.6568G>A
n.6013G>A
c.3771G>A (p.Gln1257=)
c.*3917G>A (n.*3917G>A)
c.*3840G>A (n.*3840G>A)
c.*4145G>A (n.*4145G>A)
c.*3876G>A (n.*3876G>A)
c.3477G>A (p.Gln1159=)
c.2722+377G>A
c.3828G>A (p.Gln1276=)
c.2807G>A
n.902G>A
n.3112G>A
n.158G>A
n.3935G>A
c.3945G>A (p.Gln1315=)
c.3924G>A (p.Gln1308=)
c.3906G>A (p.Gln1302=)
c.3888G>A (p.Gln1296=)
c.3849G>A (p.Gln1283=)
c.3810G>A (p.Gln1270=)
c.3534G>A (p.Gln1178=)
c.3495G>A (p.Gln1165=)
c.3885G>A (p.Gln1295=)
c.3792G>A (p.Gln1264=)
c.3267G>A (p.Gln1089=)
c.3582G>A (p.Gln1194=)
n.8154G>A
3g.9475533G>CCA2239798SETD5n.2726G>C
c.3867G>C (p.Gln1289His)
n.4760G>C
n.2151G>C
n.6568G>C
n.6013G>C
c.3771G>C (p.Gln1257His)
c.*3917G>C (n.*3917G>C)
c.*3840G>C (n.*3840G>C)
c.*4145G>C (n.*4145G>C)
c.*3876G>C (n.*3876G>C)
c.3477G>C (p.Gln1159His)
c.2722+377G>C
c.3828G>C (p.Gln1276His)
c.2807G>C
n.902G>C
n.3112G>C
n.158G>C
n.3935G>C
c.3945G>C (p.Gln1315His)
c.3924G>C (p.Gln1308His)
c.3906G>C (p.Gln1302His)
c.3888G>C (p.Gln1296His)
c.3849G>C (p.Gln1283His)
c.3810G>C (p.Gln1270His)
c.3534G>C (p.Gln1178His)
c.3495G>C (p.Gln1165His)
c.3885G>C (p.Gln1295His)
c.3792G>C (p.Gln1264His)
c.3267G>C (p.Gln1089His)
c.3582G>C (p.Gln1194His)
n.8154G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475533G=CA1344742338SETD5n.2726G=
c.3867G= (p.Gln1289=)
n.4760G=
n.2151G=
n.6568G=
n.6013G=
c.3771G= (p.Gln1257=)
c.*3917G= (n.*3917G=)
c.*3840G= (n.*3840G=)
c.*4145G= (n.*4145G=)
c.*3876G= (n.*3876G=)
c.3477G= (p.Gln1159=)
c.2722+377G=
c.3828G= (p.Gln1276=)
c.2807G=
n.902G=
n.3112G=
n.158G=
n.3935G=
c.3945G= (p.Gln1315=)
c.3924G= (p.Gln1308=)
c.3906G= (p.Gln1302=)
c.3888G= (p.Gln1296=)
c.3849G= (p.Gln1283=)
c.3810G= (p.Gln1270=)
c.3534G= (p.Gln1178=)
c.3495G= (p.Gln1165=)
c.3885G= (p.Gln1295=)
c.3792G= (p.Gln1264=)
c.3267G= (p.Gln1089=)
c.3582G= (p.Gln1194=)
n.8154G=
3g.9475533G>TCA351690885SETD5n.2726G>T
c.3867G>T (p.Gln1289His)
n.4760G>T
n.2151G>T
n.6568G>T
n.6013G>T
c.3771G>T (p.Gln1257His)
c.*3917G>T (n.*3917G>T)
c.*3840G>T (n.*3840G>T)
c.*4145G>T (n.*4145G>T)
c.*3876G>T (n.*3876G>T)
c.3477G>T (p.Gln1159His)
c.2722+377G>T
c.3828G>T (p.Gln1276His)
c.2807G>T
n.902G>T
n.3112G>T
n.158G>T
n.3935G>T
c.3945G>T (p.Gln1315His)
c.3924G>T (p.Gln1308His)
c.3906G>T (p.Gln1302His)
c.3888G>T (p.Gln1296His)
c.3849G>T (p.Gln1283His)
c.3810G>T (p.Gln1270His)
c.3534G>T (p.Gln1178His)
c.3495G>T (p.Gln1165His)
c.3885G>T (p.Gln1295His)
c.3792G>T (p.Gln1264His)
c.3267G>T (p.Gln1089His)
c.3582G>T (p.Gln1194His)
n.8154G>T
3g.9475533dupCA251337SETD5n.2726dup
c.3867dup (p.Ser1290GlufsTer?)
n.4760dup
n.2151dup
n.6568dup
n.6013dup
c.3771dup (p.Ser1258GlufsTer?)
c.*3917dup (n.*3917dup)
c.*3840dup (n.*3840dup)
c.*4145dup (n.*4145dup)
c.*3876dup (n.*3876dup)
c.3477dup (p.Ser1160GlufsTer?)
c.2722+377dup
c.3828dup (p.Ser1277GlufsTer?)
c.2807dup
n.902dup
n.3112dup
n.158dup
n.3935dup
c.3945dup (p.Ser1316GlufsTer?)
c.3924dup (p.Ser1309GlufsTer?)
c.3906dup (p.Ser1303GlufsTer?)
c.3888dup (p.Ser1297GlufsTer?)
c.3849dup (p.Ser1284GlufsTer?)
c.3810dup (p.Ser1271GlufsTer?)
c.3534dup (p.Ser1179GlufsTer?)
c.3495dup (p.Ser1166GlufsTer?)
c.3885dup (p.Ser1296GlufsTer?)
c.3792dup (p.Ser1265GlufsTer?)
c.3267dup (p.Ser1090GlufsTer?)
c.3582dup (p.Ser1195GlufsTer?)
n.8154dup
 ClinVar dbSNP
3g.9475534A>CCA351690888SETD5n.2727A>C
c.3868A>C (p.Ser1290Arg)
n.4761A>C
n.2152A>C
n.6569A>C
n.6014A>C
c.3772A>C (p.Ser1258Arg)
c.*3918A>C (n.*3918A>C)
c.*3841A>C (n.*3841A>C)
c.*4146A>C (n.*4146A>C)
c.*3877A>C (n.*3877A>C)
c.3478A>C (p.Ser1160Arg)
c.2722+378A>C
c.3829A>C (p.Ser1277Arg)
c.2808A>C
n.903A>C
n.3113A>C
n.159A>C
n.3936A>C
c.3946A>C (p.Ser1316Arg)
c.3925A>C (p.Ser1309Arg)
c.3907A>C (p.Ser1303Arg)
c.3889A>C (p.Ser1297Arg)
c.3850A>C (p.Ser1284Arg)
c.3811A>C (p.Ser1271Arg)
c.3535A>C (p.Ser1179Arg)
c.3496A>C (p.Ser1166Arg)
c.3886A>C (p.Ser1296Arg)
c.3793A>C (p.Ser1265Arg)
c.3268A>C (p.Ser1090Arg)
c.3583A>C (p.Ser1195Arg)
n.8155A>C
3g.9475534A>GCA351690890SETD5n.2727A>G
c.3868A>G (p.Ser1290Gly)
n.4761A>G
n.2152A>G
n.6569A>G
n.6014A>G
c.3772A>G (p.Ser1258Gly)
c.*3918A>G (n.*3918A>G)
c.*3841A>G (n.*3841A>G)
c.*4146A>G (n.*4146A>G)
c.*3877A>G (n.*3877A>G)
c.3478A>G (p.Ser1160Gly)
c.2722+378A>G
c.3829A>G (p.Ser1277Gly)
c.2808A>G
n.903A>G
n.3113A>G
n.159A>G
n.3936A>G
c.3946A>G (p.Ser1316Gly)
c.3925A>G (p.Ser1309Gly)
c.3907A>G (p.Ser1303Gly)
c.3889A>G (p.Ser1297Gly)
c.3850A>G (p.Ser1284Gly)
c.3811A>G (p.Ser1271Gly)
c.3535A>G (p.Ser1179Gly)
c.3496A>G (p.Ser1166Gly)
c.3886A>G (p.Ser1296Gly)
c.3793A>G (p.Ser1265Gly)
c.3268A>G (p.Ser1090Gly)
c.3583A>G (p.Ser1195Gly)
n.8155A>G
3g.9475534A>TCA351690892SETD5n.2727A>T
c.3868A>T (p.Ser1290Cys)
n.4761A>T
n.2152A>T
n.6569A>T
n.6014A>T
c.3772A>T (p.Ser1258Cys)
c.*3918A>T (n.*3918A>T)
c.*3841A>T (n.*3841A>T)
c.*4146A>T (n.*4146A>T)
c.*3877A>T (n.*3877A>T)
c.3478A>T (p.Ser1160Cys)
c.2722+378A>T
c.3829A>T (p.Ser1277Cys)
c.2808A>T
n.903A>T
n.3113A>T
n.159A>T
n.3936A>T
c.3946A>T (p.Ser1316Cys)
c.3925A>T (p.Ser1309Cys)
c.3907A>T (p.Ser1303Cys)
c.3889A>T (p.Ser1297Cys)
c.3850A>T (p.Ser1284Cys)
c.3811A>T (p.Ser1271Cys)
c.3535A>T (p.Ser1179Cys)
c.3496A>T (p.Ser1166Cys)
c.3886A>T (p.Ser1296Cys)
c.3793A>T (p.Ser1265Cys)
c.3268A>T (p.Ser1090Cys)
c.3583A>T (p.Ser1195Cys)
n.8155A>T
3g.9475535G>ACA2239799SETD5n.2728G>A
c.3869G>A (p.Ser1290Asn)
n.4762G>A
n.2153G>A
n.6570G>A
n.6015G>A
c.3773G>A (p.Ser1258Asn)
c.*3919G>A (n.*3919G>A)
c.*3842G>A (n.*3842G>A)
c.*4147G>A (n.*4147G>A)
c.*3878G>A (n.*3878G>A)
c.3479G>A (p.Ser1160Asn)
c.2722+379G>A
c.3830G>A (p.Ser1277Asn)
c.2809G>A
n.904G>A
n.3114G>A
n.160G>A
n.3937G>A
c.3947G>A (p.Ser1316Asn)
c.3926G>A (p.Ser1309Asn)
c.3908G>A (p.Ser1303Asn)
c.3890G>A (p.Ser1297Asn)
c.3851G>A (p.Ser1284Asn)
c.3812G>A (p.Ser1271Asn)
c.3536G>A (p.Ser1179Asn)
c.3497G>A (p.Ser1166Asn)
c.3887G>A (p.Ser1296Asn)
c.3794G>A (p.Ser1265Asn)
c.3269G>A (p.Ser1090Asn)
c.3584G>A (p.Ser1195Asn)
n.8156G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475535G>CCA351690894SETD5n.2728G>C
c.3869G>C (p.Ser1290Thr)
n.4762G>C
n.2153G>C
n.6570G>C
n.6015G>C
c.3773G>C (p.Ser1258Thr)
c.*3919G>C (n.*3919G>C)
c.*3842G>C (n.*3842G>C)
c.*4147G>C (n.*4147G>C)
c.*3878G>C (n.*3878G>C)
c.3479G>C (p.Ser1160Thr)
c.2722+379G>C
c.3830G>C (p.Ser1277Thr)
c.2809G>C
n.904G>C
n.3114G>C
n.160G>C
n.3937G>C
c.3947G>C (p.Ser1316Thr)
c.3926G>C (p.Ser1309Thr)
c.3908G>C (p.Ser1303Thr)
c.3890G>C (p.Ser1297Thr)
c.3851G>C (p.Ser1284Thr)
c.3812G>C (p.Ser1271Thr)
c.3536G>C (p.Ser1179Thr)
c.3497G>C (p.Ser1166Thr)
c.3887G>C (p.Ser1296Thr)
c.3794G>C (p.Ser1265Thr)
c.3269G>C (p.Ser1090Thr)
c.3584G>C (p.Ser1195Thr)
n.8156G>C
 dbSNP
3g.9475535G=CA1344742348SETD5n.2728G=
c.3869G= (p.Ser1290=)
n.4762G=
n.2153G=
n.6570G=
n.6015G=
c.3773G= (p.Ser1258=)
c.*3919G= (n.*3919G=)
c.*3842G= (n.*3842G=)
c.*4147G= (n.*4147G=)
c.*3878G= (n.*3878G=)
c.3479G= (p.Ser1160=)
c.2722+379G=
c.3830G= (p.Ser1277=)
c.2809G=
n.904G=
n.3114G=
n.160G=
n.3937G=
c.3947G= (p.Ser1316=)
c.3926G= (p.Ser1309=)
c.3908G= (p.Ser1303=)
c.3890G= (p.Ser1297=)
c.3851G= (p.Ser1284=)
c.3812G= (p.Ser1271=)
c.3536G= (p.Ser1179=)
c.3497G= (p.Ser1166=)
c.3887G= (p.Ser1296=)
c.3794G= (p.Ser1265=)
c.3269G= (p.Ser1090=)
c.3584G= (p.Ser1195=)
n.8156G=
3g.9475535G>TCA351690897SETD5n.2728G>T
c.3869G>T (p.Ser1290Ile)
n.4762G>T
n.2153G>T
n.6570G>T
n.6015G>T
c.3773G>T (p.Ser1258Ile)
c.*3919G>T (n.*3919G>T)
c.*3842G>T (n.*3842G>T)
c.*4147G>T (n.*4147G>T)
c.*3878G>T (n.*3878G>T)
c.3479G>T (p.Ser1160Ile)
c.2722+379G>T
c.3830G>T (p.Ser1277Ile)
c.2809G>T
n.904G>T
n.3114G>T
n.160G>T
n.3937G>T
c.3947G>T (p.Ser1316Ile)
c.3926G>T (p.Ser1309Ile)
c.3908G>T (p.Ser1303Ile)
c.3890G>T (p.Ser1297Ile)
c.3851G>T (p.Ser1284Ile)
c.3812G>T (p.Ser1271Ile)
c.3536G>T (p.Ser1179Ile)
c.3497G>T (p.Ser1166Ile)
c.3887G>T (p.Ser1296Ile)
c.3794G>T (p.Ser1265Ile)
c.3269G>T (p.Ser1090Ile)
c.3584G>T (p.Ser1195Ile)
n.8156G>T
3g.9475536T>ACA351690901SETD5n.2729T>A
c.3870T>A (p.Ser1290Arg)
n.4763T>A
n.2154T>A
n.6571T>A
n.6016T>A
c.3774T>A (p.Ser1258Arg)
c.*3920T>A (n.*3920T>A)
c.*3843T>A (n.*3843T>A)
c.*4148T>A (n.*4148T>A)
c.*3879T>A (n.*3879T>A)
c.3480T>A (p.Ser1160Arg)
c.2722+380T>A
c.3831T>A (p.Ser1277Arg)
c.2810T>A
n.905T>A
n.3115T>A
n.161T>A
n.3938T>A
c.3948T>A (p.Ser1316Arg)
c.3927T>A (p.Ser1309Arg)
c.3909T>A (p.Ser1303Arg)
c.3891T>A (p.Ser1297Arg)
c.3852T>A (p.Ser1284Arg)
c.3813T>A (p.Ser1271Arg)
c.3537T>A (p.Ser1179Arg)
c.3498T>A (p.Ser1166Arg)
c.3888T>A (p.Ser1296Arg)
c.3795T>A (p.Ser1265Arg)
c.3270T>A (p.Ser1090Arg)
c.3585T>A (p.Ser1195Arg)
n.8157T>A
3g.9475536T>CCA432528405SETD5n.2729T>C
c.3870T>C (p.Ser1290=)
n.4763T>C
n.2154T>C
n.6571T>C
n.6016T>C
c.3774T>C (p.Ser1258=)
c.*3920T>C (n.*3920T>C)
c.*3843T>C (n.*3843T>C)
c.*4148T>C (n.*4148T>C)
c.*3879T>C (n.*3879T>C)
c.3480T>C (p.Ser1160=)
c.2722+380T>C
c.3831T>C (p.Ser1277=)
c.2810T>C
n.905T>C
n.3115T>C
n.161T>C
n.3938T>C
c.3948T>C (p.Ser1316=)
c.3927T>C (p.Ser1309=)
c.3909T>C (p.Ser1303=)
c.3891T>C (p.Ser1297=)
c.3852T>C (p.Ser1284=)
c.3813T>C (p.Ser1271=)
c.3537T>C (p.Ser1179=)
c.3498T>C (p.Ser1166=)
c.3888T>C (p.Ser1296=)
c.3795T>C (p.Ser1265=)
c.3270T>C (p.Ser1090=)
c.3585T>C (p.Ser1195=)
n.8157T>C
3g.9475536T>GCA351690902SETD5n.2729T>G
c.3870T>G (p.Ser1290Arg)
n.4763T>G
n.2154T>G
n.6571T>G
n.6016T>G
c.3774T>G (p.Ser1258Arg)
c.*3920T>G (n.*3920T>G)
c.*3843T>G (n.*3843T>G)
c.*4148T>G (n.*4148T>G)
c.*3879T>G (n.*3879T>G)
c.3480T>G (p.Ser1160Arg)
c.2722+380T>G
c.3831T>G (p.Ser1277Arg)
c.2810T>G
n.905T>G
n.3115T>G
n.161T>G
n.3938T>G
c.3948T>G (p.Ser1316Arg)
c.3927T>G (p.Ser1309Arg)
c.3909T>G (p.Ser1303Arg)
c.3891T>G (p.Ser1297Arg)
c.3852T>G (p.Ser1284Arg)
c.3813T>G (p.Ser1271Arg)
c.3537T>G (p.Ser1179Arg)
c.3498T>G (p.Ser1166Arg)
c.3888T>G (p.Ser1296Arg)
c.3795T>G (p.Ser1265Arg)
c.3270T>G (p.Ser1090Arg)
c.3585T>G (p.Ser1195Arg)
n.8157T>G
3g.9475537T>ACA351690903SETD5n.2730T>A
c.3871T>A (p.Ser1291Thr)
n.4764T>A
n.2155T>A
n.6572T>A
n.6017T>A
c.3775T>A (p.Ser1259Thr)
c.*3921T>A (n.*3921T>A)
c.*3844T>A (n.*3844T>A)
c.*4149T>A (n.*4149T>A)
c.*3880T>A (n.*3880T>A)
c.3481T>A (p.Ser1161Thr)
c.2722+381T>A
c.3832T>A (p.Ser1278Thr)
c.2811T>A
n.906T>A
n.3116T>A
n.162T>A
n.3939T>A
c.3949T>A (p.Ser1317Thr)
c.3928T>A (p.Ser1310Thr)
c.3910T>A (p.Ser1304Thr)
c.3892T>A (p.Ser1298Thr)
c.3853T>A (p.Ser1285Thr)
c.3814T>A (p.Ser1272Thr)
c.3538T>A (p.Ser1180Thr)
c.3499T>A (p.Ser1167Thr)
c.3889T>A (p.Ser1297Thr)
c.3796T>A (p.Ser1266Thr)
c.3271T>A (p.Ser1091Thr)
c.3586T>A (p.Ser1196Thr)
n.8158T>A
3g.9475537T>CCA351690905SETD5n.2730T>C
c.3871T>C (p.Ser1291Pro)
n.4764T>C
n.2155T>C
n.6572T>C
n.6017T>C
c.3775T>C (p.Ser1259Pro)
c.*3921T>C (n.*3921T>C)
c.*3844T>C (n.*3844T>C)
c.*4149T>C (n.*4149T>C)
c.*3880T>C (n.*3880T>C)
c.3481T>C (p.Ser1161Pro)
c.2722+381T>C
c.3832T>C (p.Ser1278Pro)
c.2811T>C
n.906T>C
n.3116T>C
n.162T>C
n.3939T>C
c.3949T>C (p.Ser1317Pro)
c.3928T>C (p.Ser1310Pro)
c.3910T>C (p.Ser1304Pro)
c.3892T>C (p.Ser1298Pro)
c.3853T>C (p.Ser1285Pro)
c.3814T>C (p.Ser1272Pro)
c.3538T>C (p.Ser1180Pro)
c.3499T>C (p.Ser1167Pro)
c.3889T>C (p.Ser1297Pro)
c.3796T>C (p.Ser1266Pro)
c.3271T>C (p.Ser1091Pro)
c.3586T>C (p.Ser1196Pro)
n.8158T>C
 gnomAD v4
3g.9475537T>GCA351690906SETD5n.2730T>G
c.3871T>G (p.Ser1291Ala)
n.4764T>G
n.2155T>G
n.6572T>G
n.6017T>G
c.3775T>G (p.Ser1259Ala)
c.*3921T>G (n.*3921T>G)
c.*3844T>G (n.*3844T>G)
c.*4149T>G (n.*4149T>G)
c.*3880T>G (n.*3880T>G)
c.3481T>G (p.Ser1161Ala)
c.2722+381T>G
c.3832T>G (p.Ser1278Ala)
c.2811T>G
n.906T>G
n.3116T>G
n.162T>G
n.3939T>G
c.3949T>G (p.Ser1317Ala)
c.3928T>G (p.Ser1310Ala)
c.3910T>G (p.Ser1304Ala)
c.3892T>G (p.Ser1298Ala)
c.3853T>G (p.Ser1285Ala)
c.3814T>G (p.Ser1272Ala)
c.3538T>G (p.Ser1180Ala)
c.3499T>G (p.Ser1167Ala)
c.3889T>G (p.Ser1297Ala)
c.3796T>G (p.Ser1266Ala)
c.3271T>G (p.Ser1091Ala)
c.3586T>G (p.Ser1196Ala)
n.8158T>G
3g.9475538C>ACA351690908SETD5n.2731C>A
c.3872C>A (p.Ser1291Tyr)
n.4765C>A
n.2156C>A
n.6573C>A
n.6018C>A
c.3776C>A (p.Ser1259Tyr)
c.*3922C>A (n.*3922C>A)
c.*3845C>A (n.*3845C>A)
c.*4150C>A (n.*4150C>A)
c.*3881C>A (n.*3881C>A)
c.3482C>A (p.Ser1161Tyr)
c.2722+382C>A
c.3833C>A (p.Ser1278Tyr)
c.2812C>A
n.907C>A
n.3117C>A
n.163C>A
n.3940C>A
c.3950C>A (p.Ser1317Tyr)
c.3929C>A (p.Ser1310Tyr)
c.3911C>A (p.Ser1304Tyr)
c.3893C>A (p.Ser1298Tyr)
c.3854C>A (p.Ser1285Tyr)
c.3815C>A (p.Ser1272Tyr)
c.3539C>A (p.Ser1180Tyr)
c.3500C>A (p.Ser1167Tyr)
c.3890C>A (p.Ser1297Tyr)
c.3797C>A (p.Ser1266Tyr)
c.3272C>A (p.Ser1091Tyr)
c.3587C>A (p.Ser1196Tyr)
n.8159C>A
3g.9475538C=CA1344742351SETD5n.2731C=
c.3872C= (p.Ser1291=)
n.4765C=
n.2156C=
n.6573C=
n.6018C=
c.3776C= (p.Ser1259=)
c.*3922C= (n.*3922C=)
c.*3845C= (n.*3845C=)
c.*4150C= (n.*4150C=)
c.*3881C= (n.*3881C=)
c.3482C= (p.Ser1161=)
c.2722+382C=
c.3833C= (p.Ser1278=)
c.2812C=
n.907C=
n.3117C=
n.163C=
n.3940C=
c.3950C= (p.Ser1317=)
c.3929C= (p.Ser1310=)
c.3911C= (p.Ser1304=)
c.3893C= (p.Ser1298=)
c.3854C= (p.Ser1285=)
c.3815C= (p.Ser1272=)
c.3539C= (p.Ser1180=)
c.3500C= (p.Ser1167=)
c.3890C= (p.Ser1297=)
c.3797C= (p.Ser1266=)
c.3272C= (p.Ser1091=)
c.3587C= (p.Ser1196=)
n.8159C=
3g.9475538C>GCA2239800SETD5n.2731C>G
c.3872C>G (p.Ser1291Cys)
n.4765C>G
n.2156C>G
n.6573C>G
n.6018C>G
c.3776C>G (p.Ser1259Cys)
c.*3922C>G (n.*3922C>G)
c.*3845C>G (n.*3845C>G)
c.*4150C>G (n.*4150C>G)
c.*3881C>G (n.*3881C>G)
c.3482C>G (p.Ser1161Cys)
c.2722+382C>G
c.3833C>G (p.Ser1278Cys)
c.2812C>G
n.907C>G
n.3117C>G
n.163C>G
n.3940C>G
c.3950C>G (p.Ser1317Cys)
c.3929C>G (p.Ser1310Cys)
c.3911C>G (p.Ser1304Cys)
c.3893C>G (p.Ser1298Cys)
c.3854C>G (p.Ser1285Cys)
c.3815C>G (p.Ser1272Cys)
c.3539C>G (p.Ser1180Cys)
c.3500C>G (p.Ser1167Cys)
c.3890C>G (p.Ser1297Cys)
c.3797C>G (p.Ser1266Cys)
c.3272C>G (p.Ser1091Cys)
c.3587C>G (p.Ser1196Cys)
n.8159C>G
 dbSNP ExAC gnomAD v2
3g.9475538C>TCA351690910SETD5n.2731C>T
c.3872C>T (p.Ser1291Phe)
n.4765C>T
n.2156C>T
n.6573C>T
n.6018C>T
c.3776C>T (p.Ser1259Phe)
c.*3922C>T (n.*3922C>T)
c.*3845C>T (n.*3845C>T)
c.*4150C>T (n.*4150C>T)
c.*3881C>T (n.*3881C>T)
c.3482C>T (p.Ser1161Phe)
c.2722+382C>T
c.3833C>T (p.Ser1278Phe)
c.2812C>T
n.907C>T
n.3117C>T
n.163C>T
n.3940C>T
c.3950C>T (p.Ser1317Phe)
c.3929C>T (p.Ser1310Phe)
c.3911C>T (p.Ser1304Phe)
c.3893C>T (p.Ser1298Phe)
c.3854C>T (p.Ser1285Phe)
c.3815C>T (p.Ser1272Phe)
c.3539C>T (p.Ser1180Phe)
c.3500C>T (p.Ser1167Phe)
c.3890C>T (p.Ser1297Phe)
c.3797C>T (p.Ser1266Phe)
c.3272C>T (p.Ser1091Phe)
c.3587C>T (p.Ser1196Phe)
n.8159C>T
3g.9475539C>ACA432528410SETD5n.2732C>A
c.3873C>A (p.Ser1291=)
n.4766C>A
n.2157C>A
n.6574C>A
n.6019C>A
c.3777C>A (p.Ser1259=)
c.*3923C>A (n.*3923C>A)
c.*3846C>A (n.*3846C>A)
c.*4151C>A (n.*4151C>A)
c.*3882C>A (n.*3882C>A)
c.3483C>A (p.Ser1161=)
c.2722+383C>A
c.3834C>A (p.Ser1278=)
c.2813C>A
n.908C>A
n.3118C>A
n.164C>A
n.3941C>A
c.3951C>A (p.Ser1317=)
c.3930C>A (p.Ser1310=)
c.3912C>A (p.Ser1304=)
c.3894C>A (p.Ser1298=)
c.3855C>A (p.Ser1285=)
c.3816C>A (p.Ser1272=)
c.3540C>A (p.Ser1180=)
c.3501C>A (p.Ser1167=)
c.3891C>A (p.Ser1297=)
c.3798C>A (p.Ser1266=)
c.3273C>A (p.Ser1091=)
c.3588C>A (p.Ser1196=)
n.8160C>A
3g.9475539C=CA1344742354SETD5n.2732C=
c.3873C= (p.Ser1291=)
n.4766C=
n.2157C=
n.6574C=
n.6019C=
c.3777C= (p.Ser1259=)
c.*3923C= (n.*3923C=)
c.*3846C= (n.*3846C=)
c.*4151C= (n.*4151C=)
c.*3882C= (n.*3882C=)
c.3483C= (p.Ser1161=)
c.2722+383C=
c.3834C= (p.Ser1278=)
c.2813C=
n.908C=
n.3118C=
n.164C=
n.3941C=
c.3951C= (p.Ser1317=)
c.3930C= (p.Ser1310=)
c.3912C= (p.Ser1304=)
c.3894C= (p.Ser1298=)
c.3855C= (p.Ser1285=)
c.3816C= (p.Ser1272=)
c.3540C= (p.Ser1180=)
c.3501C= (p.Ser1167=)
c.3891C= (p.Ser1297=)
c.3798C= (p.Ser1266=)
c.3273C= (p.Ser1091=)
c.3588C= (p.Ser1196=)
n.8160C=
3g.9475539C>GCA432528411SETD5n.2732C>G
c.3873C>G (p.Ser1291=)
n.4766C>G
n.2157C>G
n.6574C>G
n.6019C>G
c.3777C>G (p.Ser1259=)
c.*3923C>G (n.*3923C>G)
c.*3846C>G (n.*3846C>G)
c.*4151C>G (n.*4151C>G)
c.*3882C>G (n.*3882C>G)
c.3483C>G (p.Ser1161=)
c.2722+383C>G
c.3834C>G (p.Ser1278=)
c.2813C>G
n.908C>G
n.3118C>G
n.164C>G
n.3941C>G
c.3951C>G (p.Ser1317=)
c.3930C>G (p.Ser1310=)
c.3912C>G (p.Ser1304=)
c.3894C>G (p.Ser1298=)
c.3855C>G (p.Ser1285=)
c.3816C>G (p.Ser1272=)
c.3540C>G (p.Ser1180=)
c.3501C>G (p.Ser1167=)
c.3891C>G (p.Ser1297=)
c.3798C>G (p.Ser1266=)
c.3273C>G (p.Ser1091=)
c.3588C>G (p.Ser1196=)
n.8160C>G
3g.9475539C>TCA432528412SETD5n.2732C>T
c.3873C>T (p.Ser1291=)
n.4766C>T
n.2157C>T
n.6574C>T
n.6019C>T
c.3777C>T (p.Ser1259=)
c.*3923C>T (n.*3923C>T)
c.*3846C>T (n.*3846C>T)
c.*4151C>T (n.*4151C>T)
c.*3882C>T (n.*3882C>T)
c.3483C>T (p.Ser1161=)
c.2722+383C>T
c.3834C>T (p.Ser1278=)
c.2813C>T
n.908C>T
n.3118C>T
n.164C>T
n.3941C>T
c.3951C>T (p.Ser1317=)
c.3930C>T (p.Ser1310=)
c.3912C>T (p.Ser1304=)
c.3894C>T (p.Ser1298=)
c.3855C>T (p.Ser1285=)
c.3816C>T (p.Ser1272=)
c.3540C>T (p.Ser1180=)
c.3501C>T (p.Ser1167=)
c.3891C>T (p.Ser1297=)
c.3798C>T (p.Ser1266=)
c.3273C>T (p.Ser1091=)
c.3588C>T (p.Ser1196=)
n.8160C>T
 dbSNP gnomAD v3 gnomAD v4
3g.9475540T>ACA351690916SETD5n.2733T>A
c.3874T>A (p.Ser1292Thr)
n.4767T>A
n.2158T>A
n.6575T>A
n.6020T>A
c.3778T>A (p.Ser1260Thr)
c.*3924T>A (n.*3924T>A)
c.*3847T>A (n.*3847T>A)
c.*4152T>A (n.*4152T>A)
c.*3883T>A (n.*3883T>A)
c.3484T>A (p.Ser1162Thr)
c.2722+384T>A
c.3835T>A (p.Ser1279Thr)
c.2814T>A
n.909T>A
n.3119T>A
n.165T>A
n.3942T>A
c.3952T>A (p.Ser1318Thr)
c.3931T>A (p.Ser1311Thr)
c.3913T>A (p.Ser1305Thr)
c.3895T>A (p.Ser1299Thr)
c.3856T>A (p.Ser1286Thr)
c.3817T>A (p.Ser1273Thr)
c.3541T>A (p.Ser1181Thr)
c.3502T>A (p.Ser1168Thr)
c.3892T>A (p.Ser1298Thr)
c.3799T>A (p.Ser1267Thr)
c.3274T>A (p.Ser1092Thr)
c.3589T>A (p.Ser1197Thr)
n.8161T>A
3g.9475540T>CCA351690918SETD5n.2733T>C
c.3874T>C (p.Ser1292Pro)
n.4767T>C
n.2158T>C
n.6575T>C
n.6020T>C
c.3778T>C (p.Ser1260Pro)
c.*3924T>C (n.*3924T>C)
c.*3847T>C (n.*3847T>C)
c.*4152T>C (n.*4152T>C)
c.*3883T>C (n.*3883T>C)
c.3484T>C (p.Ser1162Pro)
c.2722+384T>C
c.3835T>C (p.Ser1279Pro)
c.2814T>C
n.909T>C
n.3119T>C
n.165T>C
n.3942T>C
c.3952T>C (p.Ser1318Pro)
c.3931T>C (p.Ser1311Pro)
c.3913T>C (p.Ser1305Pro)
c.3895T>C (p.Ser1299Pro)
c.3856T>C (p.Ser1286Pro)
c.3817T>C (p.Ser1273Pro)
c.3541T>C (p.Ser1181Pro)
c.3502T>C (p.Ser1168Pro)
c.3892T>C (p.Ser1298Pro)
c.3799T>C (p.Ser1267Pro)
c.3274T>C (p.Ser1092Pro)
c.3589T>C (p.Ser1197Pro)
n.8161T>C
3g.9475540T>GCA351690914SETD5n.2733T>G
c.3874T>G (p.Ser1292Ala)
n.4767T>G
n.2158T>G
n.6575T>G
n.6020T>G
c.3778T>G (p.Ser1260Ala)
c.*3924T>G (n.*3924T>G)
c.*3847T>G (n.*3847T>G)
c.*4152T>G (n.*4152T>G)
c.*3883T>G (n.*3883T>G)
c.3484T>G (p.Ser1162Ala)
c.2722+384T>G
c.3835T>G (p.Ser1279Ala)
c.2814T>G
n.909T>G
n.3119T>G
n.165T>G
n.3942T>G
c.3952T>G (p.Ser1318Ala)
c.3931T>G (p.Ser1311Ala)
c.3913T>G (p.Ser1305Ala)
c.3895T>G (p.Ser1299Ala)
c.3856T>G (p.Ser1286Ala)
c.3817T>G (p.Ser1273Ala)
c.3541T>G (p.Ser1181Ala)
c.3502T>G (p.Ser1168Ala)
c.3892T>G (p.Ser1298Ala)
c.3799T>G (p.Ser1267Ala)
c.3274T>G (p.Ser1092Ala)
c.3589T>G (p.Ser1197Ala)
n.8161T>G
3g.9475540T=CA1344742359SETD5n.2733T=
c.3874T= (p.Ser1292=)
n.4767T=
n.2158T=
n.6575T=
n.6020T=
c.3778T= (p.Ser1260=)
c.*3924T= (n.*3924T=)
c.*3847T= (n.*3847T=)
c.*4152T= (n.*4152T=)
c.*3883T= (n.*3883T=)
c.3484T= (p.Ser1162=)
c.2722+384T=
c.3835T= (p.Ser1279=)
c.2814T=
n.909T=
n.3119T=
n.165T=
n.3942T=
c.3952T= (p.Ser1318=)
c.3931T= (p.Ser1311=)
c.3913T= (p.Ser1305=)
c.3895T= (p.Ser1299=)
c.3856T= (p.Ser1286=)
c.3817T= (p.Ser1273=)
c.3541T= (p.Ser1181=)
c.3502T= (p.Ser1168=)
c.3892T= (p.Ser1298=)
c.3799T= (p.Ser1267=)
c.3274T= (p.Ser1092=)
c.3589T= (p.Ser1197=)
n.8161T=
3g.9475541C>ACA351690922SETD5n.2734C>A
c.3875C>A (p.Ser1292Tyr)
n.4768C>A
n.2159C>A
n.6576C>A
n.6021C>A
c.3779C>A (p.Ser1260Tyr)
c.*3925C>A (n.*3925C>A)
c.*3848C>A (n.*3848C>A)
c.*4153C>A (n.*4153C>A)
c.*3884C>A (n.*3884C>A)
c.3485C>A (p.Ser1162Tyr)
c.2722+385C>A
c.3836C>A (p.Ser1279Tyr)
c.2815C>A
n.910C>A
n.3120C>A
n.166C>A
n.3943C>A
c.3953C>A (p.Ser1318Tyr)
c.3932C>A (p.Ser1311Tyr)
c.3914C>A (p.Ser1305Tyr)
c.3896C>A (p.Ser1299Tyr)
c.3857C>A (p.Ser1286Tyr)
c.3818C>A (p.Ser1273Tyr)
c.3542C>A (p.Ser1181Tyr)
c.3503C>A (p.Ser1168Tyr)
c.3893C>A (p.Ser1298Tyr)
c.3800C>A (p.Ser1267Tyr)
c.3275C>A (p.Ser1092Tyr)
c.3590C>A (p.Ser1197Tyr)
n.8162C>A
 dbSNP gnomAD v4
3g.9475541C=CA1344742370SETD5n.2734C=
c.3875C= (p.Ser1292=)
n.4768C=
n.2159C=
n.6576C=
n.6021C=
c.3779C= (p.Ser1260=)
c.*3925C= (n.*3925C=)
c.*3848C= (n.*3848C=)
c.*4153C= (n.*4153C=)
c.*3884C= (n.*3884C=)
c.3485C= (p.Ser1162=)
c.2722+385C=
c.3836C= (p.Ser1279=)
c.2815C=
n.910C=
n.3120C=
n.166C=
n.3943C=
c.3953C= (p.Ser1318=)
c.3932C= (p.Ser1311=)
c.3914C= (p.Ser1305=)
c.3896C= (p.Ser1299=)
c.3857C= (p.Ser1286=)
c.3818C= (p.Ser1273=)
c.3542C= (p.Ser1181=)
c.3503C= (p.Ser1168=)
c.3893C= (p.Ser1298=)
c.3800C= (p.Ser1267=)
c.3275C= (p.Ser1092=)
c.3590C= (p.Ser1197=)
n.8162C=
3g.9475541C>GCA351690927SETD5n.2734C>G
c.3875C>G (p.Ser1292Cys)
n.4768C>G
n.2159C>G
n.6576C>G
n.6021C>G
c.3779C>G (p.Ser1260Cys)
c.*3925C>G (n.*3925C>G)
c.*3848C>G (n.*3848C>G)
c.*4153C>G (n.*4153C>G)
c.*3884C>G (n.*3884C>G)
c.3485C>G (p.Ser1162Cys)
c.2722+385C>G
c.3836C>G (p.Ser1279Cys)
c.2815C>G
n.910C>G
n.3120C>G
n.166C>G
n.3943C>G
c.3953C>G (p.Ser1318Cys)
c.3932C>G (p.Ser1311Cys)
c.3914C>G (p.Ser1305Cys)
c.3896C>G (p.Ser1299Cys)
c.3857C>G (p.Ser1286Cys)
c.3818C>G (p.Ser1273Cys)
c.3542C>G (p.Ser1181Cys)
c.3503C>G (p.Ser1168Cys)
c.3893C>G (p.Ser1298Cys)
c.3800C>G (p.Ser1267Cys)
c.3275C>G (p.Ser1092Cys)
c.3590C>G (p.Ser1197Cys)
n.8162C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.9475541C>TCA351690924SETD5n.2734C>T
c.3875C>T (p.Ser1292Phe)
n.4768C>T
n.2159C>T
n.6576C>T
n.6021C>T
c.3779C>T (p.Ser1260Phe)
c.*3925C>T (n.*3925C>T)
c.*3848C>T (n.*3848C>T)
c.*4153C>T (n.*4153C>T)
c.*3884C>T (n.*3884C>T)
c.3485C>T (p.Ser1162Phe)
c.2722+385C>T
c.3836C>T (p.Ser1279Phe)
c.2815C>T
n.910C>T
n.3120C>T
n.166C>T
n.3943C>T
c.3953C>T (p.Ser1318Phe)
c.3932C>T (p.Ser1311Phe)
c.3914C>T (p.Ser1305Phe)
c.3896C>T (p.Ser1299Phe)
c.3857C>T (p.Ser1286Phe)
c.3818C>T (p.Ser1273Phe)
c.3542C>T (p.Ser1181Phe)
c.3503C>T (p.Ser1168Phe)
c.3893C>T (p.Ser1298Phe)
c.3800C>T (p.Ser1267Phe)
c.3275C>T (p.Ser1092Phe)
c.3590C>T (p.Ser1197Phe)
n.8162C>T
 COSMIC COSMIC
3g.9475545dupCA16618016SETD5n.2738dup
c.3879dup (p.Phe1294LeufsTer?)
n.4772dup
n.2163dup
n.6580dup
n.6025dup
c.3783dup (p.Phe1262LeufsTer?)
c.*3929dup (n.*3929dup)
c.*3852dup (n.*3852dup)
c.*4157dup (n.*4157dup)
c.*3888dup (n.*3888dup)
c.3489dup (p.Phe1164LeufsTer?)
c.2722+389dup
c.3840dup (p.Phe1281LeufsTer?)
c.2819dup
n.914dup
n.3124dup
n.170dup
n.3947dup
c.3957dup (p.Phe1320LeufsTer?)
c.3936dup (p.Phe1313LeufsTer?)
c.3918dup (p.Phe1307LeufsTer?)
c.3900dup (p.Phe1301LeufsTer?)
c.3861dup (p.Phe1288LeufsTer?)
c.3822dup (p.Phe1275LeufsTer?)
c.3546dup (p.Phe1183LeufsTer?)
c.3507dup (p.Phe1170LeufsTer?)
c.3897dup (p.Phe1300LeufsTer?)
c.3804dup (p.Phe1269LeufsTer?)
c.3279dup (p.Phe1094LeufsTer?)
c.3594dup (p.Phe1199LeufsTer?)
n.8166dup
 ClinVar dbSNP
3g.9475542C>ACA432528417SETD5n.2735C>A
c.3876C>A (p.Ser1292=)
n.4769C>A
n.2160C>A
n.6577C>A
n.6022C>A
c.3780C>A (p.Ser1260=)
c.*3926C>A (n.*3926C>A)
c.*3849C>A (n.*3849C>A)
c.*4154C>A (n.*4154C>A)
c.*3885C>A (n.*3885C>A)
c.3486C>A (p.Ser1162=)
c.2722+386C>A
c.3837C>A (p.Ser1279=)
c.2816C>A
n.911C>A
n.3121C>A
n.167C>A
n.3944C>A
c.3954C>A (p.Ser1318=)
c.3933C>A (p.Ser1311=)
c.3915C>A (p.Ser1305=)
c.3897C>A (p.Ser1299=)
c.3858C>A (p.Ser1286=)
c.3819C>A (p.Ser1273=)
c.3543C>A (p.Ser1181=)
c.3504C>A (p.Ser1168=)
c.3894C>A (p.Ser1298=)
c.3801C>A (p.Ser1267=)
c.3276C>A (p.Ser1092=)
c.3591C>A (p.Ser1197=)
n.8163C>A
3g.9475542C=CA1344742373SETD5n.2735C=
c.3876C= (p.Ser1292=)
n.4769C=
n.2160C=
n.6577C=
n.6022C=
c.3780C= (p.Ser1260=)
c.*3926C= (n.*3926C=)
c.*3849C= (n.*3849C=)
c.*4154C= (n.*4154C=)
c.*3885C= (n.*3885C=)
c.3486C= (p.Ser1162=)
c.2722+386C=
c.3837C= (p.Ser1279=)
c.2816C=
n.911C=
n.3121C=
n.167C=
n.3944C=
c.3954C= (p.Ser1318=)
c.3933C= (p.Ser1311=)
c.3915C= (p.Ser1305=)
c.3897C= (p.Ser1299=)
c.3858C= (p.Ser1286=)
c.3819C= (p.Ser1273=)
c.3543C= (p.Ser1181=)
c.3504C= (p.Ser1168=)
c.3894C= (p.Ser1298=)
c.3801C= (p.Ser1267=)
c.3276C= (p.Ser1092=)
c.3591C= (p.Ser1197=)
n.8163C=
3g.9475542C>GCA432528420SETD5n.2735C>G
c.3876C>G (p.Ser1292=)
n.4769C>G
n.2160C>G
n.6577C>G
n.6022C>G
c.3780C>G (p.Ser1260=)
c.*3926C>G (n.*3926C>G)
c.*3849C>G (n.*3849C>G)
c.*4154C>G (n.*4154C>G)
c.*3885C>G (n.*3885C>G)
c.3486C>G (p.Ser1162=)
c.2722+386C>G
c.3837C>G (p.Ser1279=)
c.2816C>G
n.911C>G
n.3121C>G
n.167C>G
n.3944C>G
c.3954C>G (p.Ser1318=)
c.3933C>G (p.Ser1311=)
c.3915C>G (p.Ser1305=)
c.3897C>G (p.Ser1299=)
c.3858C>G (p.Ser1286=)
c.3819C>G (p.Ser1273=)
c.3543C>G (p.Ser1181=)
c.3504C>G (p.Ser1168=)
c.3894C>G (p.Ser1298=)
c.3801C>G (p.Ser1267=)
c.3276C>G (p.Ser1092=)
c.3591C>G (p.Ser1197=)
n.8163C>G
 dbSNP gnomAD v4
3g.9475542C>TCA432528419SETD5n.2735C>T
c.3876C>T (p.Ser1292=)
n.4769C>T
n.2160C>T
n.6577C>T
n.6022C>T
c.3780C>T (p.Ser1260=)
c.*3926C>T (n.*3926C>T)
c.*3849C>T (n.*3849C>T)
c.*4154C>T (n.*4154C>T)
c.*3885C>T (n.*3885C>T)
c.3486C>T (p.Ser1162=)
c.2722+386C>T
c.3837C>T (p.Ser1279=)
c.2816C>T
n.911C>T
n.3121C>T
n.167C>T
n.3944C>T
c.3954C>T (p.Ser1318=)
c.3933C>T (p.Ser1311=)
c.3915C>T (p.Ser1305=)
c.3897C>T (p.Ser1299=)
c.3858C>T (p.Ser1286=)
c.3819C>T (p.Ser1273=)
c.3543C>T (p.Ser1181=)
c.3504C>T (p.Ser1168=)
c.3894C>T (p.Ser1298=)
c.3801C>T (p.Ser1267=)
c.3276C>T (p.Ser1092=)
c.3591C>T (p.Ser1197=)
n.8163C>T
 COSMIC COSMIC
3g.9475543C>ACA351690930SETD5n.2736C>A
c.3877C>A (p.Pro1293Thr)
n.4770C>A
n.2161C>A
n.6578C>A
n.6023C>A
c.3781C>A (p.Pro1261Thr)
c.*3927C>A (n.*3927C>A)
c.*3850C>A (n.*3850C>A)
c.*4155C>A (n.*4155C>A)
c.*3886C>A (n.*3886C>A)
c.3487C>A (p.Pro1163Thr)
c.2722+387C>A
c.3838C>A (p.Pro1280Thr)
c.2817C>A
n.912C>A
n.3122C>A
n.168C>A
n.3945C>A
c.3955C>A (p.Pro1319Thr)
c.3934C>A (p.Pro1312Thr)
c.3916C>A (p.Pro1306Thr)
c.3898C>A (p.Pro1300Thr)
c.3859C>A (p.Pro1287Thr)
c.3820C>A (p.Pro1274Thr)
c.3544C>A (p.Pro1182Thr)
c.3505C>A (p.Pro1169Thr)
c.3895C>A (p.Pro1299Thr)
c.3802C>A (p.Pro1268Thr)
c.3277C>A (p.Pro1093Thr)
c.3592C>A (p.Pro1198Thr)
n.8164C>A
3g.9475543C=CA1344742376SETD5n.2736C=
c.3877C= (p.Pro1293=)
n.4770C=
n.2161C=
n.6578C=
n.6023C=
c.3781C= (p.Pro1261=)
c.*3927C= (n.*3927C=)
c.*3850C= (n.*3850C=)
c.*4155C= (n.*4155C=)
c.*3886C= (n.*3886C=)
c.3487C= (p.Pro1163=)
c.2722+387C=
c.3838C= (p.Pro1280=)
c.2817C=
n.912C=
n.3122C=
n.168C=
n.3945C=
c.3955C= (p.Pro1319=)
c.3934C= (p.Pro1312=)
c.3916C= (p.Pro1306=)
c.3898C= (p.Pro1300=)
c.3859C= (p.Pro1287=)
c.3820C= (p.Pro1274=)
c.3544C= (p.Pro1182=)
c.3505C= (p.Pro1169=)
c.3895C= (p.Pro1299=)
c.3802C= (p.Pro1268=)
c.3277C= (p.Pro1093=)
c.3592C= (p.Pro1198=)
n.8164C=
3g.9475543C>GCA351690948SETD5n.2736C>G
c.3877C>G (p.Pro1293Ala)
n.4770C>G
n.2161C>G
n.6578C>G
n.6023C>G
c.3781C>G (p.Pro1261Ala)
c.*3927C>G (n.*3927C>G)
c.*3850C>G (n.*3850C>G)
c.*4155C>G (n.*4155C>G)
c.*3886C>G (n.*3886C>G)
c.3487C>G (p.Pro1163Ala)
c.2722+387C>G
c.3838C>G (p.Pro1280Ala)
c.2817C>G
n.912C>G
n.3122C>G
n.168C>G
n.3945C>G
c.3955C>G (p.Pro1319Ala)
c.3934C>G (p.Pro1312Ala)
c.3916C>G (p.Pro1306Ala)
c.3898C>G (p.Pro1300Ala)
c.3859C>G (p.Pro1287Ala)
c.3820C>G (p.Pro1274Ala)
c.3544C>G (p.Pro1182Ala)
c.3505C>G (p.Pro1169Ala)
c.3895C>G (p.Pro1299Ala)
c.3802C>G (p.Pro1268Ala)
c.3277C>G (p.Pro1093Ala)
c.3592C>G (p.Pro1198Ala)
n.8164C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.9475543C>TCA351690943SETD5n.2736C>T
c.3877C>T (p.Pro1293Ser)
n.4770C>T
n.2161C>T
n.6578C>T
n.6023C>T
c.3781C>T (p.Pro1261Ser)
c.*3927C>T (n.*3927C>T)
c.*3850C>T (n.*3850C>T)
c.*4155C>T (n.*4155C>T)
c.*3886C>T (n.*3886C>T)
c.3487C>T (p.Pro1163Ser)
c.2722+387C>T
c.3838C>T (p.Pro1280Ser)
c.2817C>T
n.912C>T
n.3122C>T
n.168C>T
n.3945C>T
c.3955C>T (p.Pro1319Ser)
c.3934C>T (p.Pro1312Ser)
c.3916C>T (p.Pro1306Ser)
c.3898C>T (p.Pro1300Ser)
c.3859C>T (p.Pro1287Ser)
c.3820C>T (p.Pro1274Ser)
c.3544C>T (p.Pro1182Ser)
c.3505C>T (p.Pro1169Ser)
c.3895C>T (p.Pro1299Ser)
c.3802C>T (p.Pro1268Ser)
c.3277C>T (p.Pro1093Ser)
c.3592C>T (p.Pro1198Ser)
n.8164C>T
3g.9475544C>ACA351690952SETD5n.2737C>A
c.3878C>A (p.Pro1293His)
n.4771C>A
n.2162C>A
n.6579C>A
n.6024C>A
c.3782C>A (p.Pro1261His)
c.*3928C>A (n.*3928C>A)
c.*3851C>A (n.*3851C>A)
c.*4156C>A (n.*4156C>A)
c.*3887C>A (n.*3887C>A)
c.3488C>A (p.Pro1163His)
c.2722+388C>A
c.3839C>A (p.Pro1280His)
c.2818C>A
n.913C>A
n.3123C>A
n.169C>A
n.3946C>A
c.3956C>A (p.Pro1319His)
c.3935C>A (p.Pro1312His)
c.3917C>A (p.Pro1306His)
c.3899C>A (p.Pro1300His)
c.3860C>A (p.Pro1287His)
c.3821C>A (p.Pro1274His)
c.3545C>A (p.Pro1182His)
c.3506C>A (p.Pro1169His)
c.3896C>A (p.Pro1299His)
c.3803C>A (p.Pro1268His)
c.3278C>A (p.Pro1093His)
c.3593C>A (p.Pro1198His)
n.8165C>A
 ClinVar
3g.9475544C=CA1344742379SETD5n.2737C=
c.3878C= (p.Pro1293=)
n.4771C=
n.2162C=
n.6579C=
n.6024C=
c.3782C= (p.Pro1261=)
c.*3928C= (n.*3928C=)
c.*3851C= (n.*3851C=)
c.*4156C= (n.*4156C=)
c.*3887C= (n.*3887C=)
c.3488C= (p.Pro1163=)
c.2722+388C=
c.3839C= (p.Pro1280=)
c.2818C=
n.913C=
n.3123C=
n.169C=
n.3946C=
c.3956C= (p.Pro1319=)
c.3935C= (p.Pro1312=)
c.3917C= (p.Pro1306=)
c.3899C= (p.Pro1300=)
c.3860C= (p.Pro1287=)
c.3821C= (p.Pro1274=)
c.3545C= (p.Pro1182=)
c.3506C= (p.Pro1169=)
c.3896C= (p.Pro1299=)
c.3803C= (p.Pro1268=)
c.3278C= (p.Pro1093=)
c.3593C= (p.Pro1198=)
n.8165C=
3g.9475544C>GCA2239801SETD5n.2737C>G
c.3878C>G (p.Pro1293Arg)
n.4771C>G
n.2162C>G
n.6579C>G
n.6024C>G
c.3782C>G (p.Pro1261Arg)
c.*3928C>G (n.*3928C>G)
c.*3851C>G (n.*3851C>G)
c.*4156C>G (n.*4156C>G)
c.*3887C>G (n.*3887C>G)
c.3488C>G (p.Pro1163Arg)
c.2722+388C>G
c.3839C>G (p.Pro1280Arg)
c.2818C>G
n.913C>G
n.3123C>G
n.169C>G
n.3946C>G
c.3956C>G (p.Pro1319Arg)
c.3935C>G (p.Pro1312Arg)
c.3917C>G (p.Pro1306Arg)
c.3899C>G (p.Pro1300Arg)
c.3860C>G (p.Pro1287Arg)
c.3821C>G (p.Pro1274Arg)
c.3545C>G (p.Pro1182Arg)
c.3506C>G (p.Pro1169Arg)
c.3896C>G (p.Pro1299Arg)
c.3803C>G (p.Pro1268Arg)
c.3278C>G (p.Pro1093Arg)
c.3593C>G (p.Pro1198Arg)
n.8165C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.9475544C>TCA351690962SETD5n.2737C>T
c.3878C>T (p.Pro1293Leu)
n.4771C>T
n.2162C>T
n.6579C>T
n.6024C>T
c.3782C>T (p.Pro1261Leu)
c.*3928C>T (n.*3928C>T)
c.*3851C>T (n.*3851C>T)
c.*4156C>T (n.*4156C>T)
c.*3887C>T (n.*3887C>T)
c.3488C>T (p.Pro1163Leu)
c.2722+388C>T
c.3839C>T (p.Pro1280Leu)
c.2818C>T
n.913C>T
n.3123C>T
n.169C>T
n.3946C>T
c.3956C>T (p.Pro1319Leu)
c.3935C>T (p.Pro1312Leu)
c.3917C>T (p.Pro1306Leu)
c.3899C>T (p.Pro1300Leu)
c.3860C>T (p.Pro1287Leu)
c.3821C>T (p.Pro1274Leu)
c.3545C>T (p.Pro1182Leu)
c.3506C>T (p.Pro1169Leu)
c.3896C>T (p.Pro1299Leu)
c.3803C>T (p.Pro1268Leu)
c.3278C>T (p.Pro1093Leu)
c.3593C>T (p.Pro1198Leu)
n.8165C>T
 ClinVar gnomAD v4
3g.9475545C>ACA432528423SETD5n.2738C>A
c.3879C>A (p.Pro1293=)
n.4772C>A
n.2163C>A
n.6580C>A
n.6025C>A
c.3783C>A (p.Pro1261=)
c.*3929C>A (n.*3929C>A)
c.*3852C>A (n.*3852C>A)
c.*4157C>A (n.*4157C>A)
c.*3888C>A (n.*3888C>A)
c.3489C>A (p.Pro1163=)
c.2722+389C>A
c.3840C>A (p.Pro1280=)
c.2819C>A
n.914C>A
n.3124C>A
n.170C>A
n.3947C>A
c.3957C>A (p.Pro1319=)
c.3936C>A (p.Pro1312=)
c.3918C>A (p.Pro1306=)
c.3900C>A (p.Pro1300=)
c.3861C>A (p.Pro1287=)
c.3822C>A (p.Pro1274=)
c.3546C>A (p.Pro1182=)
c.3507C>A (p.Pro1169=)
c.3897C>A (p.Pro1299=)
c.3804C>A (p.Pro1268=)
c.3279C>A (p.Pro1093=)
c.3594C>A (p.Pro1198=)
n.8166C>A
 ClinVar dbSNP gnomAD v4
3g.9475545C=CA1344742383SETD5n.2738C=
c.3879C= (p.Pro1293=)
n.4772C=
n.2163C=
n.6580C=
n.6025C=
c.3783C= (p.Pro1261=)
c.*3929C= (n.*3929C=)
c.*3852C= (n.*3852C=)
c.*4157C= (n.*4157C=)
c.*3888C= (n.*3888C=)
c.3489C= (p.Pro1163=)
c.2722+389C=
c.3840C= (p.Pro1280=)
c.2819C=
n.914C=
n.3124C=
n.170C=
n.3947C=
c.3957C= (p.Pro1319=)
c.3936C= (p.Pro1312=)
c.3918C= (p.Pro1306=)
c.3900C= (p.Pro1300=)
c.3861C= (p.Pro1287=)
c.3822C= (p.Pro1274=)
c.3546C= (p.Pro1182=)
c.3507C= (p.Pro1169=)
c.3897C= (p.Pro1299=)
c.3804C= (p.Pro1268=)
c.3279C= (p.Pro1093=)
c.3594C= (p.Pro1198=)
n.8166C=
3g.9475545C>GCA432528424SETD5n.2738C>G
c.3879C>G (p.Pro1293=)
n.4772C>G
n.2163C>G
n.6580C>G
n.6025C>G
c.3783C>G (p.Pro1261=)
c.*3929C>G (n.*3929C>G)
c.*3852C>G (n.*3852C>G)
c.*4157C>G (n.*4157C>G)
c.*3888C>G (n.*3888C>G)
c.3489C>G (p.Pro1163=)
c.2722+389C>G
c.3840C>G (p.Pro1280=)
c.2819C>G
n.914C>G
n.3124C>G
n.170C>G
n.3947C>G
c.3957C>G (p.Pro1319=)
c.3936C>G (p.Pro1312=)
c.3918C>G (p.Pro1306=)
c.3900C>G (p.Pro1300=)
c.3861C>G (p.Pro1287=)
c.3822C>G (p.Pro1274=)
c.3546C>G (p.Pro1182=)
c.3507C>G (p.Pro1169=)
c.3897C>G (p.Pro1299=)
c.3804C>G (p.Pro1268=)
c.3279C>G (p.Pro1093=)
c.3594C>G (p.Pro1198=)
n.8166C>G
 dbSNP gnomAD v4
3g.9475545C>TCA432528425SETD5n.2738C>T
c.3879C>T (p.Pro1293=)
n.4772C>T
n.2163C>T
n.6580C>T
n.6025C>T
c.3783C>T (p.Pro1261=)
c.*3929C>T (n.*3929C>T)
c.*3852C>T (n.*3852C>T)
c.*4157C>T (n.*4157C>T)
c.*3888C>T (n.*3888C>T)
c.3489C>T (p.Pro1163=)
c.2722+389C>T
c.3840C>T (p.Pro1280=)
c.2819C>T
n.914C>T
n.3124C>T
n.170C>T
n.3947C>T
c.3957C>T (p.Pro1319=)
c.3936C>T (p.Pro1312=)
c.3918C>T (p.Pro1306=)
c.3900C>T (p.Pro1300=)
c.3861C>T (p.Pro1287=)
c.3822C>T (p.Pro1274=)
c.3546C>T (p.Pro1182=)
c.3507C>T (p.Pro1169=)
c.3897C>T (p.Pro1299=)
c.3804C>T (p.Pro1268=)
c.3279C>T (p.Pro1093=)
c.3594C>T (p.Pro1198=)
n.8166C>T
 gnomAD v4
3g.9475546T>ACA351690967SETD5n.2739T>A
c.3880T>A (p.Phe1294Ile)
n.4773T>A
n.2164T>A
n.6581T>A
n.6026T>A
c.3784T>A (p.Phe1262Ile)
c.*3930T>A (n.*3930T>A)
c.*3853T>A (n.*3853T>A)
c.*4158T>A (n.*4158T>A)
c.*3889T>A (n.*3889T>A)
c.3490T>A (p.Phe1164Ile)
c.2722+390T>A
c.3841T>A (p.Phe1281Ile)
c.2820T>A
n.915T>A
n.3125T>A
n.171T>A
n.3948T>A
c.3958T>A (p.Phe1320Ile)
c.3937T>A (p.Phe1313Ile)
c.3919T>A (p.Phe1307Ile)
c.3901T>A (p.Phe1301Ile)
c.3862T>A (p.Phe1288Ile)
c.3823T>A (p.Phe1275Ile)
c.3547T>A (p.Phe1183Ile)
c.3508T>A (p.Phe1170Ile)
c.3898T>A (p.Phe1300Ile)
c.3805T>A (p.Phe1269Ile)
c.3280T>A (p.Phe1094Ile)
c.3595T>A (p.Phe1199Ile)
n.8167T>A
3g.9475546T>CCA351690971SETD5n.2739T>C
c.3880T>C (p.Phe1294Leu)
n.4773T>C
n.2164T>C
n.6581T>C
n.6026T>C
c.3784T>C (p.Phe1262Leu)
c.*3930T>C (n.*3930T>C)
c.*3853T>C (n.*3853T>C)
c.*4158T>C (n.*4158T>C)
c.*3889T>C (n.*3889T>C)
c.3490T>C (p.Phe1164Leu)
c.2722+390T>C
c.3841T>C (p.Phe1281Leu)
c.2820T>C
n.915T>C
n.3125T>C
n.171T>C
n.3948T>C
c.3958T>C (p.Phe1320Leu)
c.3937T>C (p.Phe1313Leu)
c.3919T>C (p.Phe1307Leu)
c.3901T>C (p.Phe1301Leu)
c.3862T>C (p.Phe1288Leu)
c.3823T>C (p.Phe1275Leu)
c.3547T>C (p.Phe1183Leu)
c.3508T>C (p.Phe1170Leu)
c.3898T>C (p.Phe1300Leu)
c.3805T>C (p.Phe1269Leu)
c.3280T>C (p.Phe1094Leu)
c.3595T>C (p.Phe1199Leu)
n.8167T>C
3g.9475546T>GCA351690975SETD5n.2739T>G
c.3880T>G (p.Phe1294Val)
n.4773T>G
n.2164T>G
n.6581T>G
n.6026T>G
c.3784T>G (p.Phe1262Val)
c.*3930T>G (n.*3930T>G)
c.*3853T>G (n.*3853T>G)
c.*4158T>G (n.*4158T>G)
c.*3889T>G (n.*3889T>G)
c.3490T>G (p.Phe1164Val)
c.2722+390T>G
c.3841T>G (p.Phe1281Val)
c.2820T>G
n.915T>G
n.3125T>G
n.171T>G
n.3948T>G
c.3958T>G (p.Phe1320Val)
c.3937T>G (p.Phe1313Val)
c.3919T>G (p.Phe1307Val)
c.3901T>G (p.Phe1301Val)
c.3862T>G (p.Phe1288Val)
c.3823T>G (p.Phe1275Val)
c.3547T>G (p.Phe1183Val)
c.3508T>G (p.Phe1170Val)
c.3898T>G (p.Phe1300Val)
c.3805T>G (p.Phe1269Val)
c.3280T>G (p.Phe1094Val)
c.3595T>G (p.Phe1199Val)
n.8167T>G
3g.9475547T>ACA351690982SETD5n.2740T>A
c.3881T>A (p.Phe1294Tyr)
n.4774T>A
n.2165T>A
n.6582T>A
n.6027T>A
c.3785T>A (p.Phe1262Tyr)
c.*3931T>A (n.*3931T>A)
c.*3854T>A (n.*3854T>A)
c.*4159T>A (n.*4159T>A)
c.*3890T>A (n.*3890T>A)
c.3491T>A (p.Phe1164Tyr)
c.2722+391T>A
c.3842T>A (p.Phe1281Tyr)
c.2821T>A
n.916T>A
n.3126T>A
n.172T>A
n.3949T>A
c.3959T>A (p.Phe1320Tyr)
c.3938T>A (p.Phe1313Tyr)
c.3920T>A (p.Phe1307Tyr)
c.3902T>A (p.Phe1301Tyr)
c.3863T>A (p.Phe1288Tyr)
c.3824T>A (p.Phe1275Tyr)
c.3548T>A (p.Phe1183Tyr)
c.3509T>A (p.Phe1170Tyr)
c.3899T>A (p.Phe1300Tyr)
c.3806T>A (p.Phe1269Tyr)
c.3281T>A (p.Phe1094Tyr)
c.3596T>A (p.Phe1199Tyr)
n.8168T>A
3g.9475547T>CCA351690997SETD5n.2740T>C
c.3881T>C (p.Phe1294Ser)
n.4774T>C
n.2165T>C
n.6582T>C
n.6027T>C
c.3785T>C (p.Phe1262Ser)
c.*3931T>C (n.*3931T>C)
c.*3854T>C (n.*3854T>C)
c.*4159T>C (n.*4159T>C)
c.*3890T>C (n.*3890T>C)
c.3491T>C (p.Phe1164Ser)
c.2722+391T>C
c.3842T>C (p.Phe1281Ser)
c.2821T>C
n.916T>C
n.3126T>C
n.172T>C
n.3949T>C
c.3959T>C (p.Phe1320Ser)
c.3938T>C (p.Phe1313Ser)
c.3920T>C (p.Phe1307Ser)
c.3902T>C (p.Phe1301Ser)
c.3863T>C (p.Phe1288Ser)
c.3824T>C (p.Phe1275Ser)
c.3548T>C (p.Phe1183Ser)
c.3509T>C (p.Phe1170Ser)
c.3899T>C (p.Phe1300Ser)
c.3806T>C (p.Phe1269Ser)
c.3281T>C (p.Phe1094Ser)
c.3596T>C (p.Phe1199Ser)
n.8168T>C
3g.9475547T>GCA351690999SETD5n.2740T>G
c.3881T>G (p.Phe1294Cys)
n.4774T>G
n.2165T>G
n.6582T>G
n.6027T>G
c.3785T>G (p.Phe1262Cys)
c.*3931T>G (n.*3931T>G)
c.*3854T>G (n.*3854T>G)
c.*4159T>G (n.*4159T>G)
c.*3890T>G (n.*3890T>G)
c.3491T>G (p.Phe1164Cys)
c.2722+391T>G
c.3842T>G (p.Phe1281Cys)
c.2821T>G
n.916T>G
n.3126T>G
n.172T>G
n.3949T>G
c.3959T>G (p.Phe1320Cys)
c.3938T>G (p.Phe1313Cys)
c.3920T>G (p.Phe1307Cys)
c.3902T>G (p.Phe1301Cys)
c.3863T>G (p.Phe1288Cys)
c.3824T>G (p.Phe1275Cys)
c.3548T>G (p.Phe1183Cys)
c.3509T>G (p.Phe1170Cys)
c.3899T>G (p.Phe1300Cys)
c.3806T>G (p.Phe1269Cys)
c.3281T>G (p.Phe1094Cys)
c.3596T>G (p.Phe1199Cys)
n.8168T>G
3g.9475548C>ACA351691008SETD5n.2741C>A
c.3882C>A (p.Phe1294Leu)
n.4775C>A
n.2166C>A
n.6583C>A
n.6028C>A
c.3786C>A (p.Phe1262Leu)
c.*3932C>A (n.*3932C>A)
c.*3855C>A (n.*3855C>A)
c.*4160C>A (n.*4160C>A)
c.*3891C>A (n.*3891C>A)
c.3492C>A (p.Phe1164Leu)
c.2722+392C>A
c.3843C>A (p.Phe1281Leu)
c.2822C>A
n.917C>A
n.3127C>A
n.173C>A
n.3950C>A
c.3960C>A (p.Phe1320Leu)
c.3939C>A (p.Phe1313Leu)
c.3921C>A (p.Phe1307Leu)
c.3903C>A (p.Phe1301Leu)
c.3864C>A (p.Phe1288Leu)
c.3825C>A (p.Phe1275Leu)
c.3549C>A (p.Phe1183Leu)
c.3510C>A (p.Phe1170Leu)
c.3900C>A (p.Phe1300Leu)
c.3807C>A (p.Phe1269Leu)
c.3282C>A (p.Phe1094Leu)
c.3597C>A (p.Phe1199Leu)
n.8169C>A
3g.9475548C=CA1344742385SETD5n.2741C=
c.3882C= (p.Phe1294=)
n.4775C=
n.2166C=
n.6583C=
n.6028C=
c.3786C= (p.Phe1262=)
c.*3932C= (n.*3932C=)
c.*3855C= (n.*3855C=)
c.*4160C= (n.*4160C=)
c.*3891C= (n.*3891C=)
c.3492C= (p.Phe1164=)
c.2722+392C=
c.3843C= (p.Phe1281=)
c.2822C=
n.917C=
n.3127C=
n.173C=
n.3950C=
c.3960C= (p.Phe1320=)
c.3939C= (p.Phe1313=)
c.3921C= (p.Phe1307=)
c.3903C= (p.Phe1301=)
c.3864C= (p.Phe1288=)
c.3825C= (p.Phe1275=)
c.3549C= (p.Phe1183=)
c.3510C= (p.Phe1170=)
c.3900C= (p.Phe1300=)
c.3807C= (p.Phe1269=)
c.3282C= (p.Phe1094=)
c.3597C= (p.Phe1199=)
n.8169C=
3g.9475548C>GCA351691013SETD5n.2741C>G
c.3882C>G (p.Phe1294Leu)
n.4775C>G
n.2166C>G
n.6583C>G
n.6028C>G
c.3786C>G (p.Phe1262Leu)
c.*3932C>G (n.*3932C>G)
c.*3855C>G (n.*3855C>G)
c.*4160C>G (n.*4160C>G)
c.*3891C>G (n.*3891C>G)
c.3492C>G (p.Phe1164Leu)
c.2722+392C>G
c.3843C>G (p.Phe1281Leu)
c.2822C>G
n.917C>G
n.3127C>G
n.173C>G
n.3950C>G
c.3960C>G (p.Phe1320Leu)
c.3939C>G (p.Phe1313Leu)
c.3921C>G (p.Phe1307Leu)
c.3903C>G (p.Phe1301Leu)
c.3864C>G (p.Phe1288Leu)
c.3825C>G (p.Phe1275Leu)
c.3549C>G (p.Phe1183Leu)
c.3510C>G (p.Phe1170Leu)
c.3900C>G (p.Phe1300Leu)
c.3807C>G (p.Phe1269Leu)
c.3282C>G (p.Phe1094Leu)
c.3597C>G (p.Phe1199Leu)
n.8169C>G
3g.9475548C>TCA432528438SETD5n.2741C>T
c.3882C>T (p.Phe1294=)
n.4775C>T
n.2166C>T
n.6583C>T
n.6028C>T
c.3786C>T (p.Phe1262=)
c.*3932C>T (n.*3932C>T)
c.*3855C>T (n.*3855C>T)
c.*4160C>T (n.*4160C>T)
c.*3891C>T (n.*3891C>T)
c.3492C>T (p.Phe1164=)
c.2722+392C>T
c.3843C>T (p.Phe1281=)
c.2822C>T
n.917C>T
n.3127C>T
n.173C>T
n.3950C>T
c.3960C>T (p.Phe1320=)
c.3939C>T (p.Phe1313=)
c.3921C>T (p.Phe1307=)
c.3903C>T (p.Phe1301=)
c.3864C>T (p.Phe1288=)
c.3825C>T (p.Phe1275=)
c.3549C>T (p.Phe1183=)
c.3510C>T (p.Phe1170=)
c.3900C>T (p.Phe1300=)
c.3807C>T (p.Phe1269=)
c.3282C>T (p.Phe1094=)
c.3597C>T (p.Phe1199=)
n.8169C>T
 dbSNP
3g.9475549A>CCA432528439SETD5n.2742A>C
c.3883A>C (p.Arg1295=)
n.4776A>C
n.2167A>C
n.6584A>C
n.6029A>C
c.3787A>C (p.Arg1263=)
c.*3933A>C (n.*3933A>C)
c.*3856A>C (n.*3856A>C)
c.*4161A>C (n.*4161A>C)
c.*3892A>C (n.*3892A>C)
c.3493A>C (p.Arg1165=)
c.2722+393A>C
c.3844A>C (p.Arg1282=)
c.2823A>C
n.918A>C
n.3128A>C
n.174A>C
n.3951A>C
c.3961A>C (p.Arg1321=)
c.3940A>C (p.Arg1314=)
c.3922A>C (p.Arg1308=)
c.3904A>C (p.Arg1302=)
c.3865A>C (p.Arg1289=)
c.3826A>C (p.Arg1276=)
c.3550A>C (p.Arg1184=)
c.3511A>C (p.Arg1171=)
c.3901A>C (p.Arg1301=)
c.3808A>C (p.Arg1270=)
c.3283A>C (p.Arg1095=)
c.3598A>C (p.Arg1200=)
n.8170A>C
3g.9475549A>GCA351691016SETD5n.2742A>G
c.3883A>G (p.Arg1295Gly)
n.4776A>G
n.2167A>G
n.6584A>G
n.6029A>G
c.3787A>G (p.Arg1263Gly)
c.*3933A>G (n.*3933A>G)
c.*3856A>G (n.*3856A>G)
c.*4161A>G (n.*4161A>G)
c.*3892A>G (n.*3892A>G)
c.3493A>G (p.Arg1165Gly)
c.2722+393A>G
c.3844A>G (p.Arg1282Gly)
c.2823A>G
n.918A>G
n.3128A>G
n.174A>G
n.3951A>G
c.3961A>G (p.Arg1321Gly)
c.3940A>G (p.Arg1314Gly)
c.3922A>G (p.Arg1308Gly)
c.3904A>G (p.Arg1302Gly)
c.3865A>G (p.Arg1289Gly)
c.3826A>G (p.Arg1276Gly)
c.3550A>G (p.Arg1184Gly)
c.3511A>G (p.Arg1171Gly)
c.3901A>G (p.Arg1301Gly)
c.3808A>G (p.Arg1270Gly)
c.3283A>G (p.Arg1095Gly)
c.3598A>G (p.Arg1200Gly)
n.8170A>G
3g.9475549A>TCA351691019SETD5n.2742A>T
c.3883A>T (p.Arg1295Ter)
n.4776A>T
n.2167A>T
n.6584A>T
n.6029A>T
c.3787A>T (p.Arg1263Ter)
c.*3933A>T (n.*3933A>T)
c.*3856A>T (n.*3856A>T)
c.*4161A>T (n.*4161A>T)
c.*3892A>T (n.*3892A>T)
c.3493A>T (p.Arg1165Ter)
c.2722+393A>T
c.3844A>T (p.Arg1282Ter)
c.2823A>T
n.918A>T
n.3128A>T
n.174A>T
n.3951A>T
c.3961A>T (p.Arg1321Ter)
c.3940A>T (p.Arg1314Ter)
c.3922A>T (p.Arg1308Ter)
c.3904A>T (p.Arg1302Ter)
c.3865A>T (p.Arg1289Ter)
c.3826A>T (p.Arg1276Ter)
c.3550A>T (p.Arg1184Ter)
c.3511A>T (p.Arg1171Ter)
c.3901A>T (p.Arg1301Ter)
c.3808A>T (p.Arg1270Ter)
c.3283A>T (p.Arg1095Ter)
c.3598A>T (p.Arg1200Ter)
n.8170A>T
3g.9475550G>ACA69951894SETD5n.2743G>A
c.3884G>A (p.Arg1295Lys)
n.4777G>A
n.2168G>A
n.6585G>A
n.6030G>A
c.3788G>A (p.Arg1263Lys)
c.*3934G>A (n.*3934G>A)
c.*3857G>A (n.*3857G>A)
c.*4162G>A (n.*4162G>A)
c.*3893G>A (n.*3893G>A)
c.3494G>A (p.Arg1165Lys)
c.2722+394G>A
c.3845G>A (p.Arg1282Lys)
c.2824G>A
n.919G>A
n.3129G>A
n.175G>A
n.3952G>A
c.3962G>A (p.Arg1321Lys)
c.3941G>A (p.Arg1314Lys)
c.3923G>A (p.Arg1308Lys)
c.3905G>A (p.Arg1302Lys)
c.3866G>A (p.Arg1289Lys)
c.3827G>A (p.Arg1276Lys)
c.3551G>A (p.Arg1184Lys)
c.3512G>A (p.Arg1171Lys)
c.3902G>A (p.Arg1301Lys)
c.3809G>A (p.Arg1270Lys)
c.3284G>A (p.Arg1095Lys)
c.3599G>A (p.Arg1200Lys)
n.8171G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.9475550G>CCA351691025SETD5n.2743G>C
c.3884G>C (p.Arg1295Thr)
n.4777G>C
n.2168G>C
n.6585G>C
n.6030G>C
c.3788G>C (p.Arg1263Thr)
c.*3934G>C (n.*3934G>C)
c.*3857G>C (n.*3857G>C)
c.*4162G>C (n.*4162G>C)
c.*3893G>C (n.*3893G>C)
c.3494G>C (p.Arg1165Thr)
c.2722+394G>C
c.3845G>C (p.Arg1282Thr)
c.2824G>C
n.919G>C
n.3129G>C
n.175G>C
n.3952G>C
c.3962G>C (p.Arg1321Thr)
c.3941G>C (p.Arg1314Thr)
c.3923G>C (p.Arg1308Thr)
c.3905G>C (p.Arg1302Thr)
c.3866G>C (p.Arg1289Thr)
c.3827G>C (p.Arg1276Thr)
c.3551G>C (p.Arg1184Thr)
c.3512G>C (p.Arg1171Thr)
c.3902G>C (p.Arg1301Thr)
c.3809G>C (p.Arg1270Thr)
c.3284G>C (p.Arg1095Thr)
c.3599G>C (p.Arg1200Thr)
n.8171G>C
3g.9475550G=CA1344742388SETD5n.2743G=
c.3884G= (p.Arg1295=)
n.4777G=
n.2168G=
n.6585G=
n.6030G=
c.3788G= (p.Arg1263=)
c.*3934G= (n.*3934G=)
c.*3857G= (n.*3857G=)
c.*4162G= (n.*4162G=)
c.*3893G= (n.*3893G=)
c.3494G= (p.Arg1165=)
c.2722+394G=
c.3845G= (p.Arg1282=)
c.2824G=
n.919G=
n.3129G=
n.175G=
n.3952G=
c.3962G= (p.Arg1321=)
c.3941G= (p.Arg1314=)
c.3923G= (p.Arg1308=)
c.3905G= (p.Arg1302=)
c.3866G= (p.Arg1289=)
c.3827G= (p.Arg1276=)
c.3551G= (p.Arg1184=)
c.3512G= (p.Arg1171=)
c.3902G= (p.Arg1301=)
c.3809G= (p.Arg1270=)
c.3284G= (p.Arg1095=)
c.3599G= (p.Arg1200=)
n.8171G=
3g.9475550G>TCA351691032SETD5n.2743G>T
c.3884G>T (p.Arg1295Ile)
n.4777G>T
n.2168G>T
n.6585G>T
n.6030G>T
c.3788G>T (p.Arg1263Ile)
c.*3934G>T (n.*3934G>T)
c.*3857G>T (n.*3857G>T)
c.*4162G>T (n.*4162G>T)
c.*3893G>T (n.*3893G>T)
c.3494G>T (p.Arg1165Ile)
c.2722+394G>T
c.3845G>T (p.Arg1282Ile)
c.2824G>T
n.919G>T
n.3129G>T
n.175G>T
n.3952G>T
c.3962G>T (p.Arg1321Ile)
c.3941G>T (p.Arg1314Ile)
c.3923G>T (p.Arg1308Ile)
c.3905G>T (p.Arg1302Ile)
c.3866G>T (p.Arg1289Ile)
c.3827G>T (p.Arg1276Ile)
c.3551G>T (p.Arg1184Ile)
c.3512G>T (p.Arg1171Ile)
c.3902G>T (p.Arg1301Ile)
c.3809G>T (p.Arg1270Ile)
c.3284G>T (p.Arg1095Ile)
c.3599G>T (p.Arg1200Ile)
n.8171G>T
3g.9475551A>CCA351691040SETD5n.2744A>C
c.3885A>C (p.Arg1295Ser)
n.4778A>C
n.2169A>C
n.6586A>C
n.6031A>C
c.3789A>C (p.Arg1263Ser)
c.*3935A>C (n.*3935A>C)
c.*3858A>C (n.*3858A>C)
c.*4163A>C (n.*4163A>C)
c.*3894A>C (n.*3894A>C)
c.3495A>C (p.Arg1165Ser)
c.2722+395A>C
c.3846A>C (p.Arg1282Ser)
c.2825A>C
n.920A>C
n.3130A>C
n.176A>C
n.3953A>C
c.3963A>C (p.Arg1321Ser)
c.3942A>C (p.Arg1314Ser)
c.3924A>C (p.Arg1308Ser)
c.3906A>C (p.Arg1302Ser)
c.3867A>C (p.Arg1289Ser)
c.3828A>C (p.Arg1276Ser)
c.3552A>C (p.Arg1184Ser)
c.3513A>C (p.Arg1171Ser)
c.3903A>C (p.Arg1301Ser)
c.3810A>C (p.Arg1270Ser)
c.3285A>C (p.Arg1095Ser)
c.3600A>C (p.Arg1200Ser)
n.8172A>C
3g.9475551A>GCA432528442SETD5n.2744A>G
c.3885A>G (p.Arg1295=)
n.4778A>G
n.2169A>G
n.6586A>G
n.6031A>G
c.3789A>G (p.Arg1263=)
c.*3935A>G (n.*3935A>G)
c.*3858A>G (n.*3858A>G)
c.*4163A>G (n.*4163A>G)
c.*3894A>G (n.*3894A>G)
c.3495A>G (p.Arg1165=)
c.2722+395A>G
c.3846A>G (p.Arg1282=)
c.2825A>G
n.920A>G
n.3130A>G
n.176A>G
n.3953A>G
c.3963A>G (p.Arg1321=)
c.3942A>G (p.Arg1314=)
c.3924A>G (p.Arg1308=)
c.3906A>G (p.Arg1302=)
c.3867A>G (p.Arg1289=)
c.3828A>G (p.Arg1276=)
c.3552A>G (p.Arg1184=)
c.3513A>G (p.Arg1171=)
c.3903A>G (p.Arg1301=)
c.3810A>G (p.Arg1270=)
c.3285A>G (p.Arg1095=)
c.3600A>G (p.Arg1200=)
n.8172A>G
3g.9475551A>TCA351691046SETD5n.2744A>T
c.3885A>T (p.Arg1295Ser)
n.4778A>T
n.2169A>T
n.6586A>T
n.6031A>T
c.3789A>T (p.Arg1263Ser)
c.*3935A>T (n.*3935A>T)
c.*3858A>T (n.*3858A>T)
c.*4163A>T (n.*4163A>T)
c.*3894A>T (n.*3894A>T)
c.3495A>T (p.Arg1165Ser)
c.2722+395A>T
c.3846A>T (p.Arg1282Ser)
c.2825A>T
n.920A>T
n.3130A>T
n.176A>T
n.3953A>T
c.3963A>T (p.Arg1321Ser)
c.3942A>T (p.Arg1314Ser)
c.3924A>T (p.Arg1308Ser)
c.3906A>T (p.Arg1302Ser)
c.3867A>T (p.Arg1289Ser)
c.3828A>T (p.Arg1276Ser)
c.3552A>T (p.Arg1184Ser)
c.3513A>T (p.Arg1171Ser)
c.3903A>T (p.Arg1301Ser)
c.3810A>T (p.Arg1270Ser)
c.3285A>T (p.Arg1095Ser)
c.3600A>T (p.Arg1200Ser)
n.8172A>T
3g.9475552G>ACA351691051SETD5n.2745G>A
c.3886G>A (p.Gly1296Arg)
n.4779G>A
n.2170G>A
n.6587G>A
n.6032G>A
c.3790G>A (p.Gly1264Arg)
c.*3936G>A (n.*3936G>A)
c.*3859G>A (n.*3859G>A)
c.*4164G>A (n.*4164G>A)
c.*3895G>A (n.*3895G>A)
c.3496G>A (p.Gly1166Arg)
c.2722+396G>A
c.3847G>A (p.Gly1283Arg)
c.2826G>A
n.921G>A
n.3131G>A
n.177G>A
n.3954G>A
c.3964G>A (p.Gly1322Arg)
c.3943G>A (p.Gly1315Arg)
c.3925G>A (p.Gly1309Arg)
c.3907G>A (p.Gly1303Arg)
c.3868G>A (p.Gly1290Arg)
c.3829G>A (p.Gly1277Arg)
c.3553G>A (p.Gly1185Arg)
c.3514G>A (p.Gly1172Arg)
c.3904G>A (p.Gly1302Arg)
c.3811G>A (p.Gly1271Arg)
c.3286G>A (p.Gly1096Arg)
c.3601G>A (p.Gly1201Arg)
n.8173G>A
 dbSNP
3g.9475552G>CCA351691055SETD5n.2745G>C
c.3886G>C (p.Gly1296Arg)
n.4779G>C
n.2170G>C
n.6587G>C
n.6032G>C
c.3790G>C (p.Gly1264Arg)
c.*3936G>C (n.*3936G>C)
c.*3859G>C (n.*3859G>C)
c.*4164G>C (n.*4164G>C)
c.*3895G>C (n.*3895G>C)
c.3496G>C (p.Gly1166Arg)
c.2722+396G>C
c.3847G>C (p.Gly1283Arg)
c.2826G>C
n.921G>C
n.3131G>C
n.177G>C
n.3954G>C
c.3964G>C (p.Gly1322Arg)
c.3943G>C (p.Gly1315Arg)
c.3925G>C (p.Gly1309Arg)
c.3907G>C (p.Gly1303Arg)
c.3868G>C (p.Gly1290Arg)
c.3829G>C (p.Gly1277Arg)
c.3553G>C (p.Gly1185Arg)
c.3514G>C (p.Gly1172Arg)
c.3904G>C (p.Gly1302Arg)
c.3811G>C (p.Gly1271Arg)
c.3286G>C (p.Gly1096Arg)
c.3601G>C (p.Gly1201Arg)
n.8173G>C
3g.9475552G=CA1344742394SETD5n.2745G=
c.3886G= (p.Gly1296=)
n.4779G=
n.2170G=
n.6587G=
n.6032G=
c.3790G= (p.Gly1264=)
c.*3936G= (n.*3936G=)
c.*3859G= (n.*3859G=)
c.*4164G= (n.*4164G=)
c.*3895G= (n.*3895G=)
c.3496G= (p.Gly1166=)
c.2722+396G=
c.3847G= (p.Gly1283=)
c.2826G=
n.921G=
n.3131G=
n.177G=
n.3954G=
c.3964G= (p.Gly1322=)
c.3943G= (p.Gly1315=)
c.3925G= (p.Gly1309=)
c.3907G= (p.Gly1303=)
c.3868G= (p.Gly1290=)
c.3829G= (p.Gly1277=)
c.3553G= (p.Gly1185=)
c.3514G= (p.Gly1172=)
c.3904G= (p.Gly1302=)
c.3811G= (p.Gly1271=)
c.3286G= (p.Gly1096=)
c.3601G= (p.Gly1201=)
n.8173G=
3g.9475552G>TCA351691056SETD5n.2745G>T
c.3886G>T (p.Gly1296Ter)
n.4779G>T
n.2170G>T
n.6587G>T
n.6032G>T
c.3790G>T (p.Gly1264Ter)
c.*3936G>T (n.*3936G>T)
c.*3859G>T (n.*3859G>T)
c.*4164G>T (n.*4164G>T)
c.*3895G>T (n.*3895G>T)
c.3496G>T (p.Gly1166Ter)
c.2722+396G>T
c.3847G>T (p.Gly1283Ter)
c.2826G>T
n.921G>T
n.3131G>T
n.177G>T
n.3954G>T
c.3964G>T (p.Gly1322Ter)
c.3943G>T (p.Gly1315Ter)
c.3925G>T (p.Gly1309Ter)
c.3907G>T (p.Gly1303Ter)
c.3868G>T (p.Gly1290Ter)
c.3829G>T (p.Gly1277Ter)
c.3553G>T (p.Gly1185Ter)
c.3514G>T (p.Gly1172Ter)
c.3904G>T (p.Gly1302Ter)
c.3811G>T (p.Gly1271Ter)
c.3286G>T (p.Gly1096Ter)
c.3601G>T (p.Gly1201Ter)
n.8173G>T
3g.9475553G>ACA351691057SETD5n.2746G>A
c.3887G>A (p.Gly1296Glu)
n.4780G>A
n.2171G>A
n.6588G>A
n.6033G>A
c.3791G>A (p.Gly1264Glu)
c.*3937G>A (n.*3937G>A)
c.*3860G>A (n.*3860G>A)
c.*4165G>A (n.*4165G>A)
c.*3896G>A (n.*3896G>A)
c.3497G>A (p.Gly1166Glu)
c.2722+397G>A
c.3848G>A (p.Gly1283Glu)
c.2827G>A
n.922G>A
n.3132G>A
n.178G>A
n.3955G>A
c.3965G>A (p.Gly1322Glu)
c.3944G>A (p.Gly1315Glu)
c.3926G>A (p.Gly1309Glu)
c.3908G>A (p.Gly1303Glu)
c.3869G>A (p.Gly1290Glu)
c.3830G>A (p.Gly1277Glu)
c.3554G>A (p.Gly1185Glu)
c.3515G>A (p.Gly1172Glu)
c.3905G>A (p.Gly1302Glu)
c.3812G>A (p.Gly1271Glu)
c.3287G>A (p.Gly1096Glu)
c.3602G>A (p.Gly1201Glu)
n.8174G>A
3g.9475553G>CCA351691058SETD5n.2746G>C
c.3887G>C (p.Gly1296Ala)
n.4780G>C
n.2171G>C
n.6588G>C
n.6033G>C
c.3791G>C (p.Gly1264Ala)
c.*3937G>C (n.*3937G>C)
c.*3860G>C (n.*3860G>C)
c.*4165G>C (n.*4165G>C)
c.*3896G>C (n.*3896G>C)
c.3497G>C (p.Gly1166Ala)
c.2722+397G>C
c.3848G>C (p.Gly1283Ala)
c.2827G>C
n.922G>C
n.3132G>C
n.178G>C
n.3955G>C
c.3965G>C (p.Gly1322Ala)
c.3944G>C (p.Gly1315Ala)
c.3926G>C (p.Gly1309Ala)
c.3908G>C (p.Gly1303Ala)
c.3869G>C (p.Gly1290Ala)
c.3830G>C (p.Gly1277Ala)
c.3554G>C (p.Gly1185Ala)
c.3515G>C (p.Gly1172Ala)
c.3905G>C (p.Gly1302Ala)
c.3812G>C (p.Gly1271Ala)
c.3287G>C (p.Gly1096Ala)
c.3602G>C (p.Gly1201Ala)
n.8174G>C
3g.9475553G>TCA351691061SETD5n.2746G>T
c.3887G>T (p.Gly1296Val)
n.4780G>T
n.2171G>T
n.6588G>T
n.6033G>T
c.3791G>T (p.Gly1264Val)
c.*3937G>T (n.*3937G>T)
c.*3860G>T (n.*3860G>T)
c.*4165G>T (n.*4165G>T)
c.*3896G>T (n.*3896G>T)
c.3497G>T (p.Gly1166Val)
c.2722+397G>T
c.3848G>T (p.Gly1283Val)
c.2827G>T
n.922G>T
n.3132G>T
n.178G>T
n.3955G>T
c.3965G>T (p.Gly1322Val)
c.3944G>T (p.Gly1315Val)
c.3926G>T (p.Gly1309Val)
c.3908G>T (p.Gly1303Val)
c.3869G>T (p.Gly1290Val)
c.3830G>T (p.Gly1277Val)
c.3554G>T (p.Gly1185Val)
c.3515G>T (p.Gly1172Val)
c.3905G>T (p.Gly1302Val)
c.3812G>T (p.Gly1271Val)
c.3287G>T (p.Gly1096Val)
c.3602G>T (p.Gly1201Val)
n.8174G>T
3g.9475554A=CA1344742398SETD5n.2747A=
c.3888A= (p.Gly1296=)
n.4781A=
n.2172A=
n.6589A=
n.6034A=
c.3792A= (p.Gly1264=)
c.*3938A= (n.*3938A=)
c.*3861A= (n.*3861A=)
c.*4166A= (n.*4166A=)
c.*3897A= (n.*3897A=)
c.3498A= (p.Gly1166=)
c.2722+398A=
c.3849A= (p.Gly1283=)
c.2828A=
n.923A=
n.3133A=
n.179A=
n.3956A=
c.3966A= (p.Gly1322=)
c.3945A= (p.Gly1315=)
c.3927A= (p.Gly1309=)
c.3909A= (p.Gly1303=)
c.3870A= (p.Gly1290=)
c.3831A= (p.Gly1277=)
c.3555A= (p.Gly1185=)
c.3516A= (p.Gly1172=)
c.3906A= (p.Gly1302=)
c.3813A= (p.Gly1271=)
c.3288A= (p.Gly1096=)
c.3603A= (p.Gly1201=)
n.8175A=
3g.9475554A>CCA432528446SETD5n.2747A>C
c.3888A>C (p.Gly1296=)
n.4781A>C
n.2172A>C
n.6589A>C
n.6034A>C
c.3792A>C (p.Gly1264=)
c.*3938A>C (n.*3938A>C)
c.*3861A>C (n.*3861A>C)
c.*4166A>C (n.*4166A>C)
c.*3897A>C (n.*3897A>C)
c.3498A>C (p.Gly1166=)
c.2722+398A>C
c.3849A>C (p.Gly1283=)
c.2828A>C
n.923A>C
n.3133A>C
n.179A>C
n.3956A>C
c.3966A>C (p.Gly1322=)
c.3945A>C (p.Gly1315=)
c.3927A>C (p.Gly1309=)
c.3909A>C (p.Gly1303=)
c.3870A>C (p.Gly1290=)
c.3831A>C (p.Gly1277=)
c.3555A>C (p.Gly1185=)
c.3516A>C (p.Gly1172=)
c.3906A>C (p.Gly1302=)
c.3813A>C (p.Gly1271=)
c.3288A>C (p.Gly1096=)
c.3603A>C (p.Gly1201=)
n.8175A>C
3g.9475554A>GCA432528447SETD5n.2747A>G
c.3888A>G (p.Gly1296=)
n.4781A>G
n.2172A>G
n.6589A>G
n.6034A>G
c.3792A>G (p.Gly1264=)
c.*3938A>G (n.*3938A>G)
c.*3861A>G (n.*3861A>G)
c.*4166A>G (n.*4166A>G)
c.*3897A>G (n.*3897A>G)
c.3498A>G (p.Gly1166=)
c.2722+398A>G
c.3849A>G (p.Gly1283=)
c.2828A>G
n.923A>G
n.3133A>G
n.179A>G
n.3956A>G
c.3966A>G (p.Gly1322=)
c.3945A>G (p.Gly1315=)
c.3927A>G (p.Gly1309=)
c.3909A>G (p.Gly1303=)
c.3870A>G (p.Gly1290=)
c.3831A>G (p.Gly1277=)
c.3555A>G (p.Gly1185=)
c.3516A>G (p.Gly1172=)
c.3906A>G (p.Gly1302=)
c.3813A>G (p.Gly1271=)
c.3288A>G (p.Gly1096=)
c.3603A>G (p.Gly1201=)
n.8175A>G
 dbSNP gnomAD v4
3g.9475554A>TCA432528449SETD5n.2747A>T
c.3888A>T (p.Gly1296=)
n.4781A>T
n.2172A>T
n.6589A>T
n.6034A>T
c.3792A>T (p.Gly1264=)
c.*3938A>T (n.*3938A>T)
c.*3861A>T (n.*3861A>T)
c.*4166A>T (n.*4166A>T)
c.*3897A>T (n.*3897A>T)
c.3498A>T (p.Gly1166=)
c.2722+398A>T
c.3849A>T (p.Gly1283=)
c.2828A>T
n.923A>T
n.3133A>T
n.179A>T
n.3956A>T
c.3966A>T (p.Gly1322=)
c.3945A>T (p.Gly1315=)
c.3927A>T (p.Gly1309=)
c.3909A>T (p.Gly1303=)
c.3870A>T (p.Gly1290=)
c.3831A>T (p.Gly1277=)
c.3555A>T (p.Gly1185=)
c.3516A>T (p.Gly1172=)
c.3906A>T (p.Gly1302=)
c.3813A>T (p.Gly1271=)
c.3288A>T (p.Gly1096=)
c.3603A>T (p.Gly1201=)
n.8175A>T
3g.9475555C>ACA351691066SETD5n.2748C>A
c.3889C>A (p.His1297Asn)
n.4782C>A
n.2173C>A
n.6590C>A
n.6035C>A
c.3793C>A (p.His1265Asn)
c.*3939C>A (n.*3939C>A)
c.*3862C>A (n.*3862C>A)
c.*4167C>A (n.*4167C>A)
c.*3898C>A (n.*3898C>A)
c.3499C>A (p.His1167Asn)
c.2722+399C>A
c.3850C>A (p.His1284Asn)
c.2829C>A
n.924C>A
n.3134C>A
n.180C>A
n.3957C>A
c.3967C>A (p.His1323Asn)
c.3946C>A (p.His1316Asn)
c.3928C>A (p.His1310Asn)
c.3910C>A (p.His1304Asn)
c.3871C>A (p.His1291Asn)
c.3832C>A (p.His1278Asn)
c.3556C>A (p.His1186Asn)
c.3517C>A (p.His1173Asn)
c.3907C>A (p.His1303Asn)
c.3814C>A (p.His1272Asn)
c.3289C>A (p.His1097Asn)
c.3604C>A (p.His1202Asn)
n.8176C>A
 COSMIC COSMIC
3g.9475555C=CA1344742402SETD5n.2748C=
c.3889C= (p.His1297=)
n.4782C=
n.2173C=
n.6590C=
n.6035C=
c.3793C= (p.His1265=)
c.*3939C= (n.*3939C=)
c.*3862C= (n.*3862C=)
c.*4167C= (n.*4167C=)
c.*3898C= (n.*3898C=)
c.3499C= (p.His1167=)
c.2722+399C=
c.3850C= (p.His1284=)
c.2829C=
n.924C=
n.3134C=
n.180C=
n.3957C=
c.3967C= (p.His1323=)
c.3946C= (p.His1316=)
c.3928C= (p.His1310=)
c.3910C= (p.His1304=)
c.3871C= (p.His1291=)
c.3832C= (p.His1278=)
c.3556C= (p.His1186=)
c.3517C= (p.His1173=)
c.3907C= (p.His1303=)
c.3814C= (p.His1272=)
c.3289C= (p.His1097=)
c.3604C= (p.His1202=)
n.8176C=
3g.9475555C>GCA351691073SETD5n.2748C>G
c.3889C>G (p.His1297Asp)
n.4782C>G
n.2173C>G
n.6590C>G
n.6035C>G
c.3793C>G (p.His1265Asp)
c.*3939C>G (n.*3939C>G)
c.*3862C>G (n.*3862C>G)
c.*4167C>G (n.*4167C>G)
c.*3898C>G (n.*3898C>G)
c.3499C>G (p.His1167Asp)
c.2722+399C>G
c.3850C>G (p.His1284Asp)
c.2829C>G
n.924C>G
n.3134C>G
n.180C>G
n.3957C>G
c.3967C>G (p.His1323Asp)
c.3946C>G (p.His1316Asp)
c.3928C>G (p.His1310Asp)
c.3910C>G (p.His1304Asp)
c.3871C>G (p.His1291Asp)
c.3832C>G (p.His1278Asp)
c.3556C>G (p.His1186Asp)
c.3517C>G (p.His1173Asp)
c.3907C>G (p.His1303Asp)
c.3814C>G (p.His1272Asp)
c.3289C>G (p.His1097Asp)
c.3604C>G (p.His1202Asp)
n.8176C>G
3g.9475555C>TCA351691077SETD5n.2748C>T
c.3889C>T (p.His1297Tyr)
n.4782C>T
n.2173C>T
n.6590C>T
n.6035C>T
c.3793C>T (p.His1265Tyr)
c.*3939C>T (n.*3939C>T)
c.*3862C>T (n.*3862C>T)
c.*4167C>T (n.*4167C>T)
c.*3898C>T (n.*3898C>T)
c.3499C>T (p.His1167Tyr)
c.2722+399C>T
c.3850C>T (p.His1284Tyr)
c.2829C>T
n.924C>T
n.3134C>T
n.180C>T
n.3957C>T
c.3967C>T (p.His1323Tyr)
c.3946C>T (p.His1316Tyr)
c.3928C>T (p.His1310Tyr)
c.3910C>T (p.His1304Tyr)
c.3871C>T (p.His1291Tyr)
c.3832C>T (p.His1278Tyr)
c.3556C>T (p.His1186Tyr)
c.3517C>T (p.His1173Tyr)
c.3907C>T (p.His1303Tyr)
c.3814C>T (p.His1272Tyr)
c.3289C>T (p.His1097Tyr)
c.3604C>T (p.His1202Tyr)
n.8176C>T
 dbSNP gnomAD v4
3g.9475556A>CCA351691081SETD5n.2749A>C
c.3890A>C (p.His1297Pro)
n.4783A>C
n.2174A>C
n.6591A>C
n.6036A>C
c.3794A>C (p.His1265Pro)
c.*3940A>C (n.*3940A>C)
c.*3863A>C (n.*3863A>C)
c.*4168A>C (n.*4168A>C)
c.*3899A>C (n.*3899A>C)
c.3500A>C (p.His1167Pro)
c.2722+400A>C
c.3851A>C (p.His1284Pro)
c.2830A>C
n.925A>C
n.3135A>C
n.181A>C
n.3958A>C
c.3968A>C (p.His1323Pro)
c.3947A>C (p.His1316Pro)
c.3929A>C (p.His1310Pro)
c.3911A>C (p.His1304Pro)
c.3872A>C (p.His1291Pro)
c.3833A>C (p.His1278Pro)
c.3557A>C (p.His1186Pro)
c.3518A>C (p.His1173Pro)
c.3908A>C (p.His1303Pro)
c.3815A>C (p.His1272Pro)
c.3290A>C (p.His1097Pro)
c.3605A>C (p.His1202Pro)
n.8177A>C
3g.9475556A>GCA351691088SETD5n.2749A>G
c.3890A>G (p.His1297Arg)
n.4783A>G
n.2174A>G
n.6591A>G
n.6036A>G
c.3794A>G (p.His1265Arg)
c.*3940A>G (n.*3940A>G)
c.*3863A>G (n.*3863A>G)
c.*4168A>G (n.*4168A>G)
c.*3899A>G (n.*3899A>G)
c.3500A>G (p.His1167Arg)
c.2722+400A>G
c.3851A>G (p.His1284Arg)
c.2830A>G
n.925A>G
n.3135A>G
n.181A>G
n.3958A>G
c.3968A>G (p.His1323Arg)
c.3947A>G (p.His1316Arg)
c.3929A>G (p.His1310Arg)
c.3911A>G (p.His1304Arg)
c.3872A>G (p.His1291Arg)
c.3833A>G (p.His1278Arg)
c.3557A>G (p.His1186Arg)
c.3518A>G (p.His1173Arg)
c.3908A>G (p.His1303Arg)
c.3815A>G (p.His1272Arg)
c.3290A>G (p.His1097Arg)
c.3605A>G (p.His1202Arg)
n.8177A>G
3g.9475556A>TCA351691085SETD5n.2749A>T
c.3890A>T (p.His1297Leu)
n.4783A>T
n.2174A>T
n.6591A>T
n.6036A>T
c.3794A>T (p.His1265Leu)
c.*3940A>T (n.*3940A>T)
c.*3863A>T (n.*3863A>T)
c.*4168A>T (n.*4168A>T)
c.*3899A>T (n.*3899A>T)
c.3500A>T (p.His1167Leu)
c.2722+400A>T
c.3851A>T (p.His1284Leu)
c.2830A>T
n.925A>T
n.3135A>T
n.181A>T
n.3958A>T
c.3968A>T (p.His1323Leu)
c.3947A>T (p.His1316Leu)
c.3929A>T (p.His1310Leu)
c.3911A>T (p.His1304Leu)
c.3872A>T (p.His1291Leu)
c.3833A>T (p.His1278Leu)
c.3557A>T (p.His1186Leu)
c.3518A>T (p.His1173Leu)
c.3908A>T (p.His1303Leu)
c.3815A>T (p.His1272Leu)
c.3290A>T (p.His1097Leu)
c.3605A>T (p.His1202Leu)
n.8177A>T
3g.9475557T>ACA351691092SETD5n.2750T>A
c.3891T>A (p.His1297Gln)
n.4784T>A
n.2175T>A
n.6592T>A
n.6037T>A
c.3795T>A (p.His1265Gln)
c.*3941T>A (n.*3941T>A)
c.*3864T>A (n.*3864T>A)
c.*4169T>A (n.*4169T>A)
c.*3900T>A (n.*3900T>A)
c.3501T>A (p.His1167Gln)
c.2722+401T>A
c.3852T>A (p.His1284Gln)
c.2831T>A
n.926T>A
n.3136T>A
n.182T>A
n.3959T>A
c.3969T>A (p.His1323Gln)
c.3948T>A (p.His1316Gln)
c.3930T>A (p.His1310Gln)
c.3912T>A (p.His1304Gln)
c.3873T>A (p.His1291Gln)
c.3834T>A (p.His1278Gln)
c.3558T>A (p.His1186Gln)
c.3519T>A (p.His1173Gln)
c.3909T>A (p.His1303Gln)
c.3816T>A (p.His1272Gln)
c.3291T>A (p.His1097Gln)
c.3606T>A (p.His1202Gln)
n.8178T>A
 dbSNP gnomAD v4
3g.9475557T>CCA432528455SETD5n.2750T>C
c.3891T>C (p.His1297=)
n.4784T>C
n.2175T>C
n.6592T>C
n.6037T>C
c.3795T>C (p.His1265=)
c.*3941T>C (n.*3941T>C)
c.*3864T>C (n.*3864T>C)
c.*4169T>C (n.*4169T>C)
c.*3900T>C (n.*3900T>C)
c.3501T>C (p.His1167=)
c.2722+401T>C
c.3852T>C (p.His1284=)
c.2831T>C
n.926T>C
n.3136T>C
n.182T>C
n.3959T>C
c.3969T>C (p.His1323=)
c.3948T>C (p.His1316=)
c.3930T>C (p.His1310=)
c.3912T>C (p.His1304=)
c.3873T>C (p.His1291=)
c.3834T>C (p.His1278=)
c.3558T>C (p.His1186=)
c.3519T>C (p.His1173=)
c.3909T>C (p.His1303=)
c.3816T>C (p.His1272=)
c.3291T>C (p.His1097=)
c.3606T>C (p.His1202=)
n.8178T>C
 gnomAD v4
3g.9475557T>GCA351691093SETD5n.2750T>G
c.3891T>G (p.His1297Gln)
n.4784T>G
n.2175T>G
n.6592T>G
n.6037T>G
c.3795T>G (p.His1265Gln)
c.*3941T>G (n.*3941T>G)
c.*3864T>G (n.*3864T>G)
c.*4169T>G (n.*4169T>G)
c.*3900T>G (n.*3900T>G)
c.3501T>G (p.His1167Gln)
c.2722+401T>G
c.3852T>G (p.His1284Gln)
c.2831T>G
n.926T>G
n.3136T>G
n.182T>G
n.3959T>G
c.3969T>G (p.His1323Gln)
c.3948T>G (p.His1316Gln)
c.3930T>G (p.His1310Gln)
c.3912T>G (p.His1304Gln)
c.3873T>G (p.His1291Gln)
c.3834T>G (p.His1278Gln)
c.3558T>G (p.His1186Gln)
c.3519T>G (p.His1173Gln)
c.3909T>G (p.His1303Gln)
c.3816T>G (p.His1272Gln)
c.3291T>G (p.His1097Gln)
c.3606T>G (p.His1202Gln)
n.8178T>G
3g.9475557T=CA1344742404SETD5n.2750T=
c.3891T= (p.His1297=)
n.4784T=
n.2175T=
n.6592T=
n.6037T=
c.3795T= (p.His1265=)
c.*3941T= (n.*3941T=)
c.*3864T= (n.*3864T=)
c.*4169T= (n.*4169T=)
c.*3900T= (n.*3900T=)
c.3501T= (p.His1167=)
c.2722+401T=
c.3852T= (p.His1284=)
c.2831T=
n.926T=
n.3136T=
n.182T=
n.3959T=
c.3969T= (p.His1323=)
c.3948T= (p.His1316=)
c.3930T= (p.His1310=)
c.3912T= (p.His1304=)
c.3873T= (p.His1291=)
c.3834T= (p.His1278=)
c.3558T= (p.His1186=)
c.3519T= (p.His1173=)
c.3909T= (p.His1303=)
c.3816T= (p.His1272=)
c.3291T= (p.His1097=)
c.3606T= (p.His1202=)
n.8178T=
3g.9475558C>ACA351691099SETD5n.2751C>A
c.3892C>A (p.Pro1298Thr)
n.4785C>A
n.2176C>A
n.6593C>A
n.6038C>A
c.3796C>A (p.Pro1266Thr)
c.*3942C>A (n.*3942C>A)
c.*3865C>A (n.*3865C>A)
c.*4170C>A (n.*4170C>A)
c.*3901C>A (n.*3901C>A)
c.3502C>A (p.Pro1168Thr)
c.2722+402C>A
c.3853C>A (p.Pro1285Thr)
c.2832C>A
n.927C>A
n.3137C>A
n.183C>A
n.3960C>A
c.3970C>A (p.Pro1324Thr)
c.3949C>A (p.Pro1317Thr)
c.3931C>A (p.Pro1311Thr)
c.3913C>A (p.Pro1305Thr)
c.3874C>A (p.Pro1292Thr)
c.3835C>A (p.Pro1279Thr)
c.3559C>A (p.Pro1187Thr)
c.3520C>A (p.Pro1174Thr)
c.3910C>A (p.Pro1304Thr)
c.3817C>A (p.Pro1273Thr)
c.3292C>A (p.Pro1098Thr)
c.3607C>A (p.Pro1203Thr)
n.8179C>A
3g.9475558C=CA1344742406SETD5n.2751C=
c.3892C= (p.Pro1298=)
n.4785C=
n.2176C=
n.6593C=
n.6038C=
c.3796C= (p.Pro1266=)
c.*3942C= (n.*3942C=)
c.*3865C= (n.*3865C=)
c.*4170C= (n.*4170C=)
c.*3901C= (n.*3901C=)
c.3502C= (p.Pro1168=)
c.2722+402C=
c.3853C= (p.Pro1285=)
c.2832C=
n.927C=
n.3137C=
n.183C=
n.3960C=
c.3970C= (p.Pro1324=)
c.3949C= (p.Pro1317=)
c.3931C= (p.Pro1311=)
c.3913C= (p.Pro1305=)
c.3874C= (p.Pro1292=)
c.3835C= (p.Pro1279=)
c.3559C= (p.Pro1187=)
c.3520C= (p.Pro1174=)
c.3910C= (p.Pro1304=)
c.3817C= (p.Pro1273=)
c.3292C= (p.Pro1098=)
c.3607C= (p.Pro1203=)
n.8179C=
3g.9475558C>GCA351691104SETD5n.2751C>G
c.3892C>G (p.Pro1298Ala)
n.4785C>G
n.2176C>G
n.6593C>G
n.6038C>G
c.3796C>G (p.Pro1266Ala)
c.*3942C>G (n.*3942C>G)
c.*3865C>G (n.*3865C>G)
c.*4170C>G (n.*4170C>G)
c.*3901C>G (n.*3901C>G)
c.3502C>G (p.Pro1168Ala)
c.2722+402C>G
c.3853C>G (p.Pro1285Ala)
c.2832C>G
n.927C>G
n.3137C>G
n.183C>G
n.3960C>G
c.3970C>G (p.Pro1324Ala)
c.3949C>G (p.Pro1317Ala)
c.3931C>G (p.Pro1311Ala)
c.3913C>G (p.Pro1305Ala)
c.3874C>G (p.Pro1292Ala)
c.3835C>G (p.Pro1279Ala)
c.3559C>G (p.Pro1187Ala)
c.3520C>G (p.Pro1174Ala)
c.3910C>G (p.Pro1304Ala)
c.3817C>G (p.Pro1273Ala)
c.3292C>G (p.Pro1098Ala)
c.3607C>G (p.Pro1203Ala)
n.8179C>G
3g.9475558C>TCA351691107SETD5n.2751C>T
c.3892C>T (p.Pro1298Ser)
n.4785C>T
n.2176C>T
n.6593C>T
n.6038C>T
c.3796C>T (p.Pro1266Ser)
c.*3942C>T (n.*3942C>T)
c.*3865C>T (n.*3865C>T)
c.*4170C>T (n.*4170C>T)
c.*3901C>T (n.*3901C>T)
c.3502C>T (p.Pro1168Ser)
c.2722+402C>T
c.3853C>T (p.Pro1285Ser)
c.2832C>T
n.927C>T
n.3137C>T
n.183C>T
n.3960C>T
c.3970C>T (p.Pro1324Ser)
c.3949C>T (p.Pro1317Ser)
c.3931C>T (p.Pro1311Ser)
c.3913C>T (p.Pro1305Ser)
c.3874C>T (p.Pro1292Ser)
c.3835C>T (p.Pro1279Ser)
c.3559C>T (p.Pro1187Ser)
c.3520C>T (p.Pro1174Ser)
c.3910C>T (p.Pro1304Ser)
c.3817C>T (p.Pro1273Ser)
c.3292C>T (p.Pro1098Ser)
c.3607C>T (p.Pro1203Ser)
n.8179C>T
 dbSNP
3g.9475559C>ACA351691112SETD5n.2752C>A
c.3893C>A (p.Pro1298His)
n.4786C>A
n.2177C>A
n.6594C>A
n.6039C>A
c.3797C>A (p.Pro1266His)
c.*3943C>A (n.*3943C>A)
c.*3866C>A (n.*3866C>A)
c.*4171C>A (n.*4171C>A)
c.*3902C>A (n.*3902C>A)
c.3503C>A (p.Pro1168His)
c.2722+403C>A
c.3854C>A (p.Pro1285His)
c.2833C>A
n.928C>A
n.3138C>A
n.184C>A
n.3961C>A
c.3971C>A (p.Pro1324His)
c.3950C>A (p.Pro1317His)
c.3932C>A (p.Pro1311His)
c.3914C>A (p.Pro1305His)
c.3875C>A (p.Pro1292His)
c.3836C>A (p.Pro1279His)
c.3560C>A (p.Pro1187His)
c.3521C>A (p.Pro1174His)
c.3911C>A (p.Pro1304His)
c.3818C>A (p.Pro1273His)
c.3293C>A (p.Pro1098His)
c.3608C>A (p.Pro1203His)
n.8180C>A
 dbSNP
3g.9475559C=CA1344742409SETD5n.2752C=
c.3893C= (p.Pro1298=)
n.4786C=
n.2177C=
n.6594C=
n.6039C=
c.3797C= (p.Pro1266=)
c.*3943C= (n.*3943C=)
c.*3866C= (n.*3866C=)
c.*4171C= (n.*4171C=)
c.*3902C= (n.*3902C=)
c.3503C= (p.Pro1168=)
c.2722+403C=
c.3854C= (p.Pro1285=)
c.2833C=
n.928C=
n.3138C=
n.184C=
n.3961C=
c.3971C= (p.Pro1324=)
c.3950C= (p.Pro1317=)
c.3932C= (p.Pro1311=)
c.3914C= (p.Pro1305=)
c.3875C= (p.Pro1292=)
c.3836C= (p.Pro1279=)
c.3560C= (p.Pro1187=)
c.3521C= (p.Pro1174=)
c.3911C= (p.Pro1304=)
c.3818C= (p.Pro1273=)
c.3293C= (p.Pro1098=)
c.3608C= (p.Pro1203=)
n.8180C=
3g.9475559C>GCA351691116SETD5n.2752C>G
c.3893C>G (p.Pro1298Arg)
n.4786C>G
n.2177C>G
n.6594C>G
n.6039C>G
c.3797C>G (p.Pro1266Arg)
c.*3943C>G (n.*3943C>G)
c.*3866C>G (n.*3866C>G)
c.*4171C>G (n.*4171C>G)
c.*3902C>G (n.*3902C>G)
c.3503C>G (p.Pro1168Arg)
c.2722+403C>G
c.3854C>G (p.Pro1285Arg)
c.2833C>G
n.928C>G
n.3138C>G
n.184C>G
n.3961C>G
c.3971C>G (p.Pro1324Arg)
c.3950C>G (p.Pro1317Arg)
c.3932C>G (p.Pro1311Arg)
c.3914C>G (p.Pro1305Arg)
c.3875C>G (p.Pro1292Arg)
c.3836C>G (p.Pro1279Arg)
c.3560C>G (p.Pro1187Arg)
c.3521C>G (p.Pro1174Arg)
c.3911C>G (p.Pro1304Arg)
c.3818C>G (p.Pro1273Arg)
c.3293C>G (p.Pro1098Arg)
c.3608C>G (p.Pro1203Arg)
n.8180C>G
3g.9475559C>TCA351691117SETD5n.2752C>T
c.3893C>T (p.Pro1298Leu)
n.4786C>T
n.2177C>T
n.6594C>T
n.6039C>T
c.3797C>T (p.Pro1266Leu)
c.*3943C>T (n.*3943C>T)
c.*3866C>T (n.*3866C>T)
c.*4171C>T (n.*4171C>T)
c.*3902C>T (n.*3902C>T)
c.3503C>T (p.Pro1168Leu)
c.2722+403C>T
c.3854C>T (p.Pro1285Leu)
c.2833C>T
n.928C>T
n.3138C>T
n.184C>T
n.3961C>T
c.3971C>T (p.Pro1324Leu)
c.3950C>T (p.Pro1317Leu)
c.3932C>T (p.Pro1311Leu)
c.3914C>T (p.Pro1305Leu)
c.3875C>T (p.Pro1292Leu)
c.3836C>T (p.Pro1279Leu)
c.3560C>T (p.Pro1187Leu)
c.3521C>T (p.Pro1174Leu)
c.3911C>T (p.Pro1304Leu)
c.3818C>T (p.Pro1273Leu)
c.3293C>T (p.Pro1098Leu)
c.3608C>T (p.Pro1203Leu)
n.8180C>T
3g.9475560T>ACA432528464SETD5n.2753T>A
c.3894T>A (p.Pro1298=)
n.4787T>A
n.2178T>A
n.6595T>A
n.6040T>A
c.3798T>A (p.Pro1266=)
c.*3944T>A (n.*3944T>A)
c.*3867T>A (n.*3867T>A)
c.*4172T>A (n.*4172T>A)
c.*3903T>A (n.*3903T>A)
c.3504T>A (p.Pro1168=)
c.2722+404T>A
c.3855T>A (p.Pro1285=)
c.2834T>A
n.929T>A
n.3139T>A
n.185T>A
n.3962T>A
c.3972T>A (p.Pro1324=)
c.3951T>A (p.Pro1317=)
c.3933T>A (p.Pro1311=)
c.3915T>A (p.Pro1305=)
c.3876T>A (p.Pro1292=)
c.3837T>A (p.Pro1279=)
c.3561T>A (p.Pro1187=)
c.3522T>A (p.Pro1174=)
c.3912T>A (p.Pro1304=)
c.3819T>A (p.Pro1273=)
c.3294T>A (p.Pro1098=)
c.3609T>A (p.Pro1203=)
n.8181T>A
3g.9475560T>CCA432528466SETD5n.2753T>C
c.3894T>C (p.Pro1298=)
n.4787T>C
n.2178T>C
n.6595T>C
n.6040T>C
c.3798T>C (p.Pro1266=)
c.*3944T>C (n.*3944T>C)
c.*3867T>C (n.*3867T>C)
c.*4172T>C (n.*4172T>C)
c.*3903T>C (n.*3903T>C)
c.3504T>C (p.Pro1168=)
c.2722+404T>C
c.3855T>C (p.Pro1285=)
c.2834T>C
n.929T>C
n.3139T>C
n.185T>C
n.3962T>C
c.3972T>C (p.Pro1324=)
c.3951T>C (p.Pro1317=)
c.3933T>C (p.Pro1311=)
c.3915T>C (p.Pro1305=)
c.3876T>C (p.Pro1292=)
c.3837T>C (p.Pro1279=)
c.3561T>C (p.Pro1187=)
c.3522T>C (p.Pro1174=)
c.3912T>C (p.Pro1304=)
c.3819T>C (p.Pro1273=)
c.3294T>C (p.Pro1098=)
c.3609T>C (p.Pro1203=)
n.8181T>C
 dbSNP gnomAD v4
3g.9475560T>GCA432528468SETD5n.2753T>G
c.3894T>G (p.Pro1298=)
n.4787T>G
n.2178T>G
n.6595T>G
n.6040T>G
c.3798T>G (p.Pro1266=)
c.*3944T>G (n.*3944T>G)
c.*3867T>G (n.*3867T>G)
c.*4172T>G (n.*4172T>G)
c.*3903T>G (n.*3903T>G)
c.3504T>G (p.Pro1168=)
c.2722+404T>G
c.3855T>G (p.Pro1285=)
c.2834T>G
n.929T>G
n.3139T>G
n.185T>G
n.3962T>G
c.3972T>G (p.Pro1324=)
c.3951T>G (p.Pro1317=)
c.3933T>G (p.Pro1311=)
c.3915T>G (p.Pro1305=)
c.3876T>G (p.Pro1292=)
c.3837T>G (p.Pro1279=)
c.3561T>G (p.Pro1187=)
c.3522T>G (p.Pro1174=)
c.3912T>G (p.Pro1304=)
c.3819T>G (p.Pro1273=)
c.3294T>G (p.Pro1098=)
c.3609T>G (p.Pro1203=)
n.8181T>G
3g.9475560T=CA1344742412SETD5n.2753T=
c.3894T= (p.Pro1298=)
n.4787T=
n.2178T=
n.6595T=
n.6040T=
c.3798T= (p.Pro1266=)
c.*3944T= (n.*3944T=)
c.*3867T= (n.*3867T=)
c.*4172T= (n.*4172T=)
c.*3903T= (n.*3903T=)
c.3504T= (p.Pro1168=)
c.2722+404T=
c.3855T= (p.Pro1285=)
c.2834T=
n.929T=
n.3139T=
n.185T=
n.3962T=
c.3972T= (p.Pro1324=)
c.3951T= (p.Pro1317=)
c.3933T= (p.Pro1311=)
c.3915T= (p.Pro1305=)
c.3876T= (p.Pro1292=)
c.3837T= (p.Pro1279=)
c.3561T= (p.Pro1187=)
c.3522T= (p.Pro1174=)
c.3912T= (p.Pro1304=)
c.3819T= (p.Pro1273=)
c.3294T= (p.Pro1098=)
c.3609T= (p.Pro1203=)
n.8181T=
3g.9475561A=CA1344742415SETD5n.2754A=
c.3895A= (p.Thr1299=)
n.4788A=
n.2179A=
n.6596A=
n.6041A=
c.3799A= (p.Thr1267=)
c.*3945A= (n.*3945A=)
c.*3868A= (n.*3868A=)
c.*4173A= (n.*4173A=)
c.*3904A= (n.*3904A=)
c.3505A= (p.Thr1169=)
c.2722+405A=
c.3856A= (p.Thr1286=)
c.2835A=
n.930A=
n.3140A=
n.186A=
n.3963A=
c.3973A= (p.Thr1325=)
c.3952A= (p.Thr1318=)
c.3934A= (p.Thr1312=)
c.3916A= (p.Thr1306=)
c.3877A= (p.Thr1293=)
c.3838A= (p.Thr1280=)
c.3562A= (p.Thr1188=)
c.3523A= (p.Thr1175=)
c.3913A= (p.Thr1305=)
c.3820A= (p.Thr1274=)
c.3295A= (p.Thr1099=)
c.3610A= (p.Thr1204=)
n.8182A=
3g.9475561A>CCA351691121SETD5n.2754A>C
c.3895A>C (p.Thr1299Pro)
n.4788A>C
n.2179A>C
n.6596A>C
n.6041A>C
c.3799A>C (p.Thr1267Pro)
c.*3945A>C (n.*3945A>C)
c.*3868A>C (n.*3868A>C)
c.*4173A>C (n.*4173A>C)
c.*3904A>C (n.*3904A>C)
c.3505A>C (p.Thr1169Pro)
c.2722+405A>C
c.3856A>C (p.Thr1286Pro)
c.2835A>C
n.930A>C
n.3140A>C
n.186A>C
n.3963A>C
c.3973A>C (p.Thr1325Pro)
c.3952A>C (p.Thr1318Pro)
c.3934A>C (p.Thr1312Pro)
c.3916A>C (p.Thr1306Pro)
c.3877A>C (p.Thr1293Pro)
c.3838A>C (p.Thr1280Pro)
c.3562A>C (p.Thr1188Pro)
c.3523A>C (p.Thr1175Pro)
c.3913A>C (p.Thr1305Pro)
c.3820A>C (p.Thr1274Pro)
c.3295A>C (p.Thr1099Pro)
c.3610A>C (p.Thr1204Pro)
n.8182A>C
3g.9475561A>GCA2239802SETD5n.2754A>G
c.3895A>G (p.Thr1299Ala)
n.4788A>G
n.2179A>G
n.6596A>G
n.6041A>G
c.3799A>G (p.Thr1267Ala)
c.*3945A>G (n.*3945A>G)
c.*3868A>G (n.*3868A>G)
c.*4173A>G (n.*4173A>G)
c.*3904A>G (n.*3904A>G)
c.3505A>G (p.Thr1169Ala)
c.2722+405A>G
c.3856A>G (p.Thr1286Ala)
c.2835A>G
n.930A>G
n.3140A>G
n.186A>G
n.3963A>G
c.3973A>G (p.Thr1325Ala)
c.3952A>G (p.Thr1318Ala)
c.3934A>G (p.Thr1312Ala)
c.3916A>G (p.Thr1306Ala)
c.3877A>G (p.Thr1293Ala)
c.3838A>G (p.Thr1280Ala)
c.3562A>G (p.Thr1188Ala)
c.3523A>G (p.Thr1175Ala)
c.3913A>G (p.Thr1305Ala)
c.3820A>G (p.Thr1274Ala)
c.3295A>G (p.Thr1099Ala)
c.3610A>G (p.Thr1204Ala)
n.8182A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475561A>TCA351691125SETD5n.2754A>T
c.3895A>T (p.Thr1299Ser)
n.4788A>T
n.2179A>T
n.6596A>T
n.6041A>T
c.3799A>T (p.Thr1267Ser)
c.*3945A>T (n.*3945A>T)
c.*3868A>T (n.*3868A>T)
c.*4173A>T (n.*4173A>T)
c.*3904A>T (n.*3904A>T)
c.3505A>T (p.Thr1169Ser)
c.2722+405A>T
c.3856A>T (p.Thr1286Ser)
c.2835A>T
n.930A>T
n.3140A>T
n.186A>T
n.3963A>T
c.3973A>T (p.Thr1325Ser)
c.3952A>T (p.Thr1318Ser)
c.3934A>T (p.Thr1312Ser)
c.3916A>T (p.Thr1306Ser)
c.3877A>T (p.Thr1293Ser)
c.3838A>T (p.Thr1280Ser)
c.3562A>T (p.Thr1188Ser)
c.3523A>T (p.Thr1175Ser)
c.3913A>T (p.Thr1305Ser)
c.3820A>T (p.Thr1274Ser)
c.3295A>T (p.Thr1099Ser)
c.3610A>T (p.Thr1204Ser)
n.8182A>T
 dbSNP
3g.9475564_9475565delCA645526495SETD5n.2757_2758del
c.3898_3899del (p.Gln1300ValfsTer?)
n.4791_4792del
n.2182_2183del
n.6599_6600del
n.6044_6045del
c.3802_3803del (p.Gln1268ValfsTer?)
c.*3948_*3949del (n.*3948_*3949del)
c.*3871_*3872del (n.*3871_*3872del)
c.*4176_*4177del (n.*4176_*4177del)
c.*3907_*3908del (n.*3907_*3908del)
c.3508_3509del (p.Gln1170ValfsTer?)
c.2722+408_2722+409del
c.3859_3860del (p.Gln1287ValfsTer?)
c.2838_2839del
n.933_934del
n.3143_3144del
n.189_190del
n.3966_3967del
c.3976_3977del (p.Gln1326ValfsTer?)
c.3955_3956del (p.Gln1319ValfsTer?)
c.3937_3938del (p.Gln1313ValfsTer?)
c.3919_3920del (p.Gln1307ValfsTer?)
c.3880_3881del (p.Gln1294ValfsTer?)
c.3841_3842del (p.Gln1281ValfsTer?)
c.3565_3566del (p.Gln1189ValfsTer?)
c.3526_3527del (p.Gln1176ValfsTer?)
c.3916_3917del (p.Gln1306ValfsTer?)
c.3823_3824del (p.Gln1275ValfsTer?)
c.3298_3299del (p.Gln1100ValfsTer?)
c.3613_3614del (p.Gln1205ValfsTer?)
n.8185_8186del
 COSMIC COSMIC
3g.9475562C>ACA351691132SETD5n.2755C>A
c.3896C>A (p.Thr1299Lys)
n.4789C>A
n.2180C>A
n.6597C>A
n.6042C>A
c.3800C>A (p.Thr1267Lys)
c.*3946C>A (n.*3946C>A)
c.*3869C>A (n.*3869C>A)
c.*4174C>A (n.*4174C>A)
c.*3905C>A (n.*3905C>A)
c.3506C>A (p.Thr1169Lys)
c.2722+406C>A
c.3857C>A (p.Thr1286Lys)
c.2836C>A
n.931C>A
n.3141C>A
n.187C>A
n.3964C>A
c.3974C>A (p.Thr1325Lys)
c.3953C>A (p.Thr1318Lys)
c.3935C>A (p.Thr1312Lys)
c.3917C>A (p.Thr1306Lys)
c.3878C>A (p.Thr1293Lys)
c.3839C>A (p.Thr1280Lys)
c.3563C>A (p.Thr1188Lys)
c.3524C>A (p.Thr1175Lys)
c.3914C>A (p.Thr1305Lys)
c.3821C>A (p.Thr1274Lys)
c.3296C>A (p.Thr1099Lys)
c.3611C>A (p.Thr1204Lys)
n.8183C>A
3g.9475562C>GCA351691130SETD5n.2755C>G
c.3896C>G (p.Thr1299Arg)
n.4789C>G
n.2180C>G
n.6597C>G
n.6042C>G
c.3800C>G (p.Thr1267Arg)
c.*3946C>G (n.*3946C>G)
c.*3869C>G (n.*3869C>G)
c.*4174C>G (n.*4174C>G)
c.*3905C>G (n.*3905C>G)
c.3506C>G (p.Thr1169Arg)
c.2722+406C>G
c.3857C>G (p.Thr1286Arg)
c.2836C>G
n.931C>G
n.3141C>G
n.187C>G
n.3964C>G
c.3974C>G (p.Thr1325Arg)
c.3953C>G (p.Thr1318Arg)
c.3935C>G (p.Thr1312Arg)
c.3917C>G (p.Thr1306Arg)
c.3878C>G (p.Thr1293Arg)
c.3839C>G (p.Thr1280Arg)
c.3563C>G (p.Thr1188Arg)
c.3524C>G (p.Thr1175Arg)
c.3914C>G (p.Thr1305Arg)
c.3821C>G (p.Thr1274Arg)
c.3296C>G (p.Thr1099Arg)
c.3611C>G (p.Thr1204Arg)
n.8183C>G
3g.9475562C>TCA351691131SETD5n.2755C>T
c.3896C>T (p.Thr1299Ile)
n.4789C>T
n.2180C>T
n.6597C>T
n.6042C>T
c.3800C>T (p.Thr1267Ile)
c.*3946C>T (n.*3946C>T)
c.*3869C>T (n.*3869C>T)
c.*4174C>T (n.*4174C>T)
c.*3905C>T (n.*3905C>T)
c.3506C>T (p.Thr1169Ile)
c.2722+406C>T
c.3857C>T (p.Thr1286Ile)
c.2836C>T
n.931C>T
n.3141C>T
n.187C>T
n.3964C>T
c.3974C>T (p.Thr1325Ile)
c.3953C>T (p.Thr1318Ile)
c.3935C>T (p.Thr1312Ile)
c.3917C>T (p.Thr1306Ile)
c.3878C>T (p.Thr1293Ile)
c.3839C>T (p.Thr1280Ile)
c.3563C>T (p.Thr1188Ile)
c.3524C>T (p.Thr1175Ile)
c.3914C>T (p.Thr1305Ile)
c.3821C>T (p.Thr1274Ile)
c.3296C>T (p.Thr1099Ile)
c.3611C>T (p.Thr1204Ile)
n.8183C>T
3g.9475563A>CCA432528470SETD5n.2756A>C
c.3897A>C (p.Thr1299=)
n.4790A>C
n.2181A>C
n.6598A>C
n.6043A>C
c.3801A>C (p.Thr1267=)
c.*3947A>C (n.*3947A>C)
c.*3870A>C (n.*3870A>C)
c.*4175A>C (n.*4175A>C)
c.*3906A>C (n.*3906A>C)
c.3507A>C (p.Thr1169=)
c.2722+407A>C
c.3858A>C (p.Thr1286=)
c.2837A>C
n.932A>C
n.3142A>C
n.188A>C
n.3965A>C
c.3975A>C (p.Thr1325=)
c.3954A>C (p.Thr1318=)
c.3936A>C (p.Thr1312=)
c.3918A>C (p.Thr1306=)
c.3879A>C (p.Thr1293=)
c.3840A>C (p.Thr1280=)
c.3564A>C (p.Thr1188=)
c.3525A>C (p.Thr1175=)
c.3915A>C (p.Thr1305=)
c.3822A>C (p.Thr1274=)
c.3297A>C (p.Thr1099=)
c.3612A>C (p.Thr1204=)
n.8184A>C
3g.9475563A>GCA432528472SETD5n.2756A>G
c.3897A>G (p.Thr1299=)
n.4790A>G
n.2181A>G
n.6598A>G
n.6043A>G
c.3801A>G (p.Thr1267=)
c.*3947A>G (n.*3947A>G)
c.*3870A>G (n.*3870A>G)
c.*4175A>G (n.*4175A>G)
c.*3906A>G (n.*3906A>G)
c.3507A>G (p.Thr1169=)
c.2722+407A>G
c.3858A>G (p.Thr1286=)
c.2837A>G
n.932A>G
n.3142A>G
n.188A>G
n.3965A>G
c.3975A>G (p.Thr1325=)
c.3954A>G (p.Thr1318=)
c.3936A>G (p.Thr1312=)
c.3918A>G (p.Thr1306=)
c.3879A>G (p.Thr1293=)
c.3840A>G (p.Thr1280=)
c.3564A>G (p.Thr1188=)
c.3525A>G (p.Thr1175=)
c.3915A>G (p.Thr1305=)
c.3822A>G (p.Thr1274=)
c.3297A>G (p.Thr1099=)
c.3612A>G (p.Thr1204=)
n.8184A>G
3g.9475563A>TCA432528474SETD5n.2756A>T
c.3897A>T (p.Thr1299=)
n.4790A>T
n.2181A>T
n.6598A>T
n.6043A>T
c.3801A>T (p.Thr1267=)
c.*3947A>T (n.*3947A>T)
c.*3870A>T (n.*3870A>T)
c.*4175A>T (n.*4175A>T)
c.*3906A>T (n.*3906A>T)
c.3507A>T (p.Thr1169=)
c.2722+407A>T
c.3858A>T (p.Thr1286=)
c.2837A>T
n.932A>T
n.3142A>T
n.188A>T
n.3965A>T
c.3975A>T (p.Thr1325=)
c.3954A>T (p.Thr1318=)
c.3936A>T (p.Thr1312=)
c.3918A>T (p.Thr1306=)
c.3879A>T (p.Thr1293=)
c.3840A>T (p.Thr1280=)
c.3564A>T (p.Thr1188=)
c.3525A>T (p.Thr1175=)
c.3915A>T (p.Thr1305=)
c.3822A>T (p.Thr1274=)
c.3297A>T (p.Thr1099=)
c.3612A>T (p.Thr1204=)
n.8184A>T
3g.9475564C>ACA351691134SETD5n.2757C>A
c.3898C>A (p.Gln1300Lys)
n.4791C>A
n.2182C>A
n.6599C>A
n.6044C>A
c.3802C>A (p.Gln1268Lys)
c.*3948C>A (n.*3948C>A)
c.*3871C>A (n.*3871C>A)
c.*4176C>A (n.*4176C>A)
c.*3907C>A (n.*3907C>A)
c.3508C>A (p.Gln1170Lys)
c.2722+408C>A
c.3859C>A (p.Gln1287Lys)
c.2838C>A
n.933C>A
n.3143C>A
n.189C>A
n.3966C>A
c.3976C>A (p.Gln1326Lys)
c.3955C>A (p.Gln1319Lys)
c.3937C>A (p.Gln1313Lys)
c.3919C>A (p.Gln1307Lys)
c.3880C>A (p.Gln1294Lys)
c.3841C>A (p.Gln1281Lys)
c.3565C>A (p.Gln1189Lys)
c.3526C>A (p.Gln1176Lys)
c.3916C>A (p.Gln1306Lys)
c.3823C>A (p.Gln1275Lys)
c.3298C>A (p.Gln1100Lys)
c.3613C>A (p.Gln1205Lys)
n.8185C>A
3g.9475564C=CA1344742417SETD5n.2757C=
c.3898C= (p.Gln1300=)
n.4791C=
n.2182C=
n.6599C=
n.6044C=
c.3802C= (p.Gln1268=)
c.*3948C= (n.*3948C=)
c.*3871C= (n.*3871C=)
c.*4176C= (n.*4176C=)
c.*3907C= (n.*3907C=)
c.3508C= (p.Gln1170=)
c.2722+408C=
c.3859C= (p.Gln1287=)
c.2838C=
n.933C=
n.3143C=
n.189C=
n.3966C=
c.3976C= (p.Gln1326=)
c.3955C= (p.Gln1319=)
c.3937C= (p.Gln1313=)
c.3919C= (p.Gln1307=)
c.3880C= (p.Gln1294=)
c.3841C= (p.Gln1281=)
c.3565C= (p.Gln1189=)
c.3526C= (p.Gln1176=)
c.3916C= (p.Gln1306=)
c.3823C= (p.Gln1275=)
c.3298C= (p.Gln1100=)
c.3613C= (p.Gln1205=)
n.8185C=
3g.9475564C>GCA351691137SETD5n.2757C>G
c.3898C>G (p.Gln1300Glu)
n.4791C>G
n.2182C>G
n.6599C>G
n.6044C>G
c.3802C>G (p.Gln1268Glu)
c.*3948C>G (n.*3948C>G)
c.*3871C>G (n.*3871C>G)
c.*4176C>G (n.*4176C>G)
c.*3907C>G (n.*3907C>G)
c.3508C>G (p.Gln1170Glu)
c.2722+408C>G
c.3859C>G (p.Gln1287Glu)
c.2838C>G
n.933C>G
n.3143C>G
n.189C>G
n.3966C>G
c.3976C>G (p.Gln1326Glu)
c.3955C>G (p.Gln1319Glu)
c.3937C>G (p.Gln1313Glu)
c.3919C>G (p.Gln1307Glu)
c.3880C>G (p.Gln1294Glu)
c.3841C>G (p.Gln1281Glu)
c.3565C>G (p.Gln1189Glu)
c.3526C>G (p.Gln1176Glu)
c.3916C>G (p.Gln1306Glu)
c.3823C>G (p.Gln1275Glu)
c.3298C>G (p.Gln1100Glu)
c.3613C>G (p.Gln1205Glu)
n.8185C>G
 dbSNP
3g.9475564C>TCA351691139SETD5n.2757C>T
c.3898C>T (p.Gln1300Ter)
n.4791C>T
n.2182C>T
n.6599C>T
n.6044C>T
c.3802C>T (p.Gln1268Ter)
c.*3948C>T (n.*3948C>T)
c.*3871C>T (n.*3871C>T)
c.*4176C>T (n.*4176C>T)
c.*3907C>T (n.*3907C>T)
c.3508C>T (p.Gln1170Ter)
c.2722+408C>T
c.3859C>T (p.Gln1287Ter)
c.2838C>T
n.933C>T
n.3143C>T
n.189C>T
n.3966C>T
c.3976C>T (p.Gln1326Ter)
c.3955C>T (p.Gln1319Ter)
c.3937C>T (p.Gln1313Ter)
c.3919C>T (p.Gln1307Ter)
c.3880C>T (p.Gln1294Ter)
c.3841C>T (p.Gln1281Ter)
c.3565C>T (p.Gln1189Ter)
c.3526C>T (p.Gln1176Ter)
c.3916C>T (p.Gln1306Ter)
c.3823C>T (p.Gln1275Ter)
c.3298C>T (p.Gln1100Ter)
c.3613C>T (p.Gln1205Ter)
n.8185C>T
3g.9475565A=CA1344742421SETD5n.2758A=
c.3899A= (p.Gln1300=)
n.4792A=
n.2183A=
n.6600A=
n.6045A=
c.3803A= (p.Gln1268=)
c.*3949A= (n.*3949A=)
c.*3872A= (n.*3872A=)
c.*4177A= (n.*4177A=)
c.*3908A= (n.*3908A=)
c.3509A= (p.Gln1170=)
c.2722+409A=
c.3860A= (p.Gln1287=)
c.2839A=
n.934A=
n.3144A=
n.190A=
n.3967A=
c.3977A= (p.Gln1326=)
c.3956A= (p.Gln1319=)
c.3938A= (p.Gln1313=)
c.3920A= (p.Gln1307=)
c.3881A= (p.Gln1294=)
c.3842A= (p.Gln1281=)
c.3566A= (p.Gln1189=)
c.3527A= (p.Gln1176=)
c.3917A= (p.Gln1306=)
c.3824A= (p.Gln1275=)
c.3299A= (p.Gln1100=)
c.3614A= (p.Gln1205=)
n.8186A=
3g.9475565A>CCA351691140SETD5n.2758A>C
c.3899A>C (p.Gln1300Pro)
n.4792A>C
n.2183A>C
n.6600A>C
n.6045A>C
c.3803A>C (p.Gln1268Pro)
c.*3949A>C (n.*3949A>C)
c.*3872A>C (n.*3872A>C)
c.*4177A>C (n.*4177A>C)
c.*3908A>C (n.*3908A>C)
c.3509A>C (p.Gln1170Pro)
c.2722+409A>C
c.3860A>C (p.Gln1287Pro)
c.2839A>C
n.934A>C
n.3144A>C
n.190A>C
n.3967A>C
c.3977A>C (p.Gln1326Pro)
c.3956A>C (p.Gln1319Pro)
c.3938A>C (p.Gln1313Pro)
c.3920A>C (p.Gln1307Pro)
c.3881A>C (p.Gln1294Pro)
c.3842A>C (p.Gln1281Pro)
c.3566A>C (p.Gln1189Pro)
c.3527A>C (p.Gln1176Pro)
c.3917A>C (p.Gln1306Pro)
c.3824A>C (p.Gln1275Pro)
c.3299A>C (p.Gln1100Pro)
c.3614A>C (p.Gln1205Pro)
n.8186A>C
3g.9475565A>GCA351691141SETD5n.2758A>G
c.3899A>G (p.Gln1300Arg)
n.4792A>G
n.2183A>G
n.6600A>G
n.6045A>G
c.3803A>G (p.Gln1268Arg)
c.*3949A>G (n.*3949A>G)
c.*3872A>G (n.*3872A>G)
c.*4177A>G (n.*4177A>G)
c.*3908A>G (n.*3908A>G)
c.3509A>G (p.Gln1170Arg)
c.2722+409A>G
c.3860A>G (p.Gln1287Arg)
c.2839A>G
n.934A>G
n.3144A>G
n.190A>G
n.3967A>G
c.3977A>G (p.Gln1326Arg)
c.3956A>G (p.Gln1319Arg)
c.3938A>G (p.Gln1313Arg)
c.3920A>G (p.Gln1307Arg)
c.3881A>G (p.Gln1294Arg)
c.3842A>G (p.Gln1281Arg)
c.3566A>G (p.Gln1189Arg)
c.3527A>G (p.Gln1176Arg)
c.3917A>G (p.Gln1306Arg)
c.3824A>G (p.Gln1275Arg)
c.3299A>G (p.Gln1100Arg)
c.3614A>G (p.Gln1205Arg)
n.8186A>G
 dbSNP gnomAD v2 gnomAD v4
3g.9475565A>TCA351691144SETD5n.2758A>T
c.3899A>T (p.Gln1300Leu)
n.4792A>T
n.2183A>T
n.6600A>T
n.6045A>T
c.3803A>T (p.Gln1268Leu)
c.*3949A>T (n.*3949A>T)
c.*3872A>T (n.*3872A>T)
c.*4177A>T (n.*4177A>T)
c.*3908A>T (n.*3908A>T)
c.3509A>T (p.Gln1170Leu)
c.2722+409A>T
c.3860A>T (p.Gln1287Leu)
c.2839A>T
n.934A>T
n.3144A>T
n.190A>T
n.3967A>T
c.3977A>T (p.Gln1326Leu)
c.3956A>T (p.Gln1319Leu)
c.3938A>T (p.Gln1313Leu)
c.3920A>T (p.Gln1307Leu)
c.3881A>T (p.Gln1294Leu)
c.3842A>T (p.Gln1281Leu)
c.3566A>T (p.Gln1189Leu)
c.3527A>T (p.Gln1176Leu)
c.3917A>T (p.Gln1306Leu)
c.3824A>T (p.Gln1275Leu)
c.3299A>T (p.Gln1100Leu)
c.3614A>T (p.Gln1205Leu)
n.8186A>T
3g.9475566G>ACA432528481SETD5n.2759G>A
c.3900G>A (p.Gln1300=)
n.4793G>A
n.2184G>A
n.6601G>A
n.6046G>A
c.3804G>A (p.Gln1268=)
c.*3950G>A (n.*3950G>A)
c.*3873G>A (n.*3873G>A)
c.*4178G>A (n.*4178G>A)
c.*3909G>A (n.*3909G>A)
c.3510G>A (p.Gln1170=)
c.2722+410G>A
c.3861G>A (p.Gln1287=)
c.2840G>A
n.935G>A
n.3145G>A
n.191G>A
n.3968G>A
c.3978G>A (p.Gln1326=)
c.3957G>A (p.Gln1319=)
c.3939G>A (p.Gln1313=)
c.3921G>A (p.Gln1307=)
c.3882G>A (p.Gln1294=)
c.3843G>A (p.Gln1281=)
c.3567G>A (p.Gln1189=)
c.3528G>A (p.Gln1176=)
c.3918G>A (p.Gln1306=)
c.3825G>A (p.Gln1275=)
c.3300G>A (p.Gln1100=)
c.3615G>A (p.Gln1205=)
n.8187G>A
 dbSNP
3g.9475566G>CCA351691149SETD5n.2759G>C
c.3900G>C (p.Gln1300His)
n.4793G>C
n.2184G>C
n.6601G>C
n.6046G>C
c.3804G>C (p.Gln1268His)
c.*3950G>C (n.*3950G>C)
c.*3873G>C (n.*3873G>C)
c.*4178G>C (n.*4178G>C)
c.*3909G>C (n.*3909G>C)
c.3510G>C (p.Gln1170His)
c.2722+410G>C
c.3861G>C (p.Gln1287His)
c.2840G>C
n.935G>C
n.3145G>C
n.191G>C
n.3968G>C
c.3978G>C (p.Gln1326His)
c.3957G>C (p.Gln1319His)
c.3939G>C (p.Gln1313His)
c.3921G>C (p.Gln1307His)
c.3882G>C (p.Gln1294His)
c.3843G>C (p.Gln1281His)
c.3567G>C (p.Gln1189His)
c.3528G>C (p.Gln1176His)
c.3918G>C (p.Gln1306His)
c.3825G>C (p.Gln1275His)
c.3300G>C (p.Gln1100His)
c.3615G>C (p.Gln1205His)
n.8187G>C
3g.9475566G=CA1344742423SETD5n.2759G=
c.3900G= (p.Gln1300=)
n.4793G=
n.2184G=
n.6601G=
n.6046G=
c.3804G= (p.Gln1268=)
c.*3950G= (n.*3950G=)
c.*3873G= (n.*3873G=)
c.*4178G= (n.*4178G=)
c.*3909G= (n.*3909G=)
c.3510G= (p.Gln1170=)
c.2722+410G=
c.3861G= (p.Gln1287=)
c.2840G=
n.935G=
n.3145G=
n.191G=
n.3968G=
c.3978G= (p.Gln1326=)
c.3957G= (p.Gln1319=)
c.3939G= (p.Gln1313=)
c.3921G= (p.Gln1307=)
c.3882G= (p.Gln1294=)
c.3843G= (p.Gln1281=)
c.3567G= (p.Gln1189=)
c.3528G= (p.Gln1176=)
c.3918G= (p.Gln1306=)
c.3825G= (p.Gln1275=)
c.3300G= (p.Gln1100=)
c.3615G= (p.Gln1205=)
n.8187G=
3g.9475566G>TCA69951899SETD5n.2759G>T
c.3900G>T (p.Gln1300His)
n.4793G>T
n.2184G>T
n.6601G>T
n.6046G>T
c.3804G>T (p.Gln1268His)
c.*3950G>T (n.*3950G>T)
c.*3873G>T (n.*3873G>T)
c.*4178G>T (n.*4178G>T)
c.*3909G>T (n.*3909G>T)
c.3510G>T (p.Gln1170His)
c.2722+410G>T
c.3861G>T (p.Gln1287His)
c.2840G>T
n.935G>T
n.3145G>T
n.191G>T
n.3968G>T
c.3978G>T (p.Gln1326His)
c.3957G>T (p.Gln1319His)
c.3939G>T (p.Gln1313His)
c.3921G>T (p.Gln1307His)
c.3882G>T (p.Gln1294His)
c.3843G>T (p.Gln1281His)
c.3567G>T (p.Gln1189His)
c.3528G>T (p.Gln1176His)
c.3918G>T (p.Gln1306His)
c.3825G>T (p.Gln1275His)
c.3300G>T (p.Gln1100His)
c.3615G>T (p.Gln1205His)
n.8187G>T
 dbSNP gnomAD v2 gnomAD v4
3g.9475567T>ACA351691159SETD5n.2760T>A
c.3901T>A (p.Ser1301Thr)
n.4794T>A
n.2185T>A
n.6602T>A
n.6047T>A
c.3805T>A (p.Ser1269Thr)
c.*3951T>A (n.*3951T>A)
c.*3874T>A (n.*3874T>A)
c.*4179T>A (n.*4179T>A)
c.*3910T>A (n.*3910T>A)
c.3511T>A (p.Ser1171Thr)
c.2722+411T>A
c.3862T>A (p.Ser1288Thr)
c.2841T>A
n.936T>A
n.3146T>A
n.192T>A
n.3969T>A
c.3979T>A (p.Ser1327Thr)
c.3958T>A (p.Ser1320Thr)
c.3940T>A (p.Ser1314Thr)
c.3922T>A (p.Ser1308Thr)
c.3883T>A (p.Ser1295Thr)
c.3844T>A (p.Ser1282Thr)
c.3568T>A (p.Ser1190Thr)
c.3529T>A (p.Ser1177Thr)
c.3919T>A (p.Ser1307Thr)
c.3826T>A (p.Ser1276Thr)
c.3301T>A (p.Ser1101Thr)
c.3616T>A (p.Ser1206Thr)
n.8188T>A
3g.9475567T>CCA351691162SETD5n.2760T>C
c.3901T>C (p.Ser1301Pro)
n.4794T>C
n.2185T>C
n.6602T>C
n.6047T>C
c.3805T>C (p.Ser1269Pro)
c.*3951T>C (n.*3951T>C)
c.*3874T>C (n.*3874T>C)
c.*4179T>C (n.*4179T>C)
c.*3910T>C (n.*3910T>C)
c.3511T>C (p.Ser1171Pro)
c.2722+411T>C
c.3862T>C (p.Ser1288Pro)
c.2841T>C
n.936T>C
n.3146T>C
n.192T>C
n.3969T>C
c.3979T>C (p.Ser1327Pro)
c.3958T>C (p.Ser1320Pro)
c.3940T>C (p.Ser1314Pro)
c.3922T>C (p.Ser1308Pro)
c.3883T>C (p.Ser1295Pro)
c.3844T>C (p.Ser1282Pro)
c.3568T>C (p.Ser1190Pro)
c.3529T>C (p.Ser1177Pro)
c.3919T>C (p.Ser1307Pro)
c.3826T>C (p.Ser1276Pro)
c.3301T>C (p.Ser1101Pro)
c.3616T>C (p.Ser1206Pro)
n.8188T>C
3g.9475567T>GCA351691169SETD5n.2760T>G
c.3901T>G (p.Ser1301Ala)
n.4794T>G
n.2185T>G
n.6602T>G
n.6047T>G
c.3805T>G (p.Ser1269Ala)
c.*3951T>G (n.*3951T>G)
c.*3874T>G (n.*3874T>G)
c.*4179T>G (n.*4179T>G)
c.*3910T>G (n.*3910T>G)
c.3511T>G (p.Ser1171Ala)
c.2722+411T>G
c.3862T>G (p.Ser1288Ala)
c.2841T>G
n.936T>G
n.3146T>G
n.192T>G
n.3969T>G
c.3979T>G (p.Ser1327Ala)
c.3958T>G (p.Ser1320Ala)
c.3940T>G (p.Ser1314Ala)
c.3922T>G (p.Ser1308Ala)
c.3883T>G (p.Ser1295Ala)
c.3844T>G (p.Ser1282Ala)
c.3568T>G (p.Ser1190Ala)
c.3529T>G (p.Ser1177Ala)
c.3919T>G (p.Ser1307Ala)
c.3826T>G (p.Ser1276Ala)
c.3301T>G (p.Ser1101Ala)
c.3616T>G (p.Ser1206Ala)
n.8188T>G
3g.9475568C>ACA351691179SETD5n.2761C>A
c.3902C>A (p.Ser1301Tyr)
n.4795C>A
n.2186C>A
n.6603C>A
n.6048C>A
c.3806C>A (p.Ser1269Tyr)
c.*3952C>A (n.*3952C>A)
c.*3875C>A (n.*3875C>A)
c.*4180C>A (n.*4180C>A)
c.*3911C>A (n.*3911C>A)
c.3512C>A (p.Ser1171Tyr)
c.2722+412C>A
c.3863C>A (p.Ser1288Tyr)
c.2842C>A
n.937C>A
n.3147C>A
n.193C>A
n.3970C>A
c.3980C>A (p.Ser1327Tyr)
c.3959C>A (p.Ser1320Tyr)
c.3941C>A (p.Ser1314Tyr)
c.3923C>A (p.Ser1308Tyr)
c.3884C>A (p.Ser1295Tyr)
c.3845C>A (p.Ser1282Tyr)
c.3569C>A (p.Ser1190Tyr)
c.3530C>A (p.Ser1177Tyr)
c.3920C>A (p.Ser1307Tyr)
c.3827C>A (p.Ser1276Tyr)
c.3302C>A (p.Ser1101Tyr)
c.3617C>A (p.Ser1206Tyr)
n.8189C>A
3g.9475568C=CA1344742424SETD5n.2761C=
c.3902C= (p.Ser1301=)
n.4795C=
n.2186C=
n.6603C=
n.6048C=
c.3806C= (p.Ser1269=)
c.*3952C= (n.*3952C=)
c.*3875C= (n.*3875C=)
c.*4180C= (n.*4180C=)
c.*3911C= (n.*3911C=)
c.3512C= (p.Ser1171=)
c.2722+412C=
c.3863C= (p.Ser1288=)
c.2842C=
n.937C=
n.3147C=
n.193C=
n.3970C=
c.3980C= (p.Ser1327=)
c.3959C= (p.Ser1320=)
c.3941C= (p.Ser1314=)
c.3923C= (p.Ser1308=)
c.3884C= (p.Ser1295=)
c.3845C= (p.Ser1282=)
c.3569C= (p.Ser1190=)
c.3530C= (p.Ser1177=)
c.3920C= (p.Ser1307=)
c.3827C= (p.Ser1276=)
c.3302C= (p.Ser1101=)
c.3617C= (p.Ser1206=)
n.8189C=
3g.9475568C>GCA351691183SETD5n.2761C>G
c.3902C>G (p.Ser1301Cys)
n.4795C>G
n.2186C>G
n.6603C>G
n.6048C>G
c.3806C>G (p.Ser1269Cys)
c.*3952C>G (n.*3952C>G)
c.*3875C>G (n.*3875C>G)
c.*4180C>G (n.*4180C>G)
c.*3911C>G (n.*3911C>G)
c.3512C>G (p.Ser1171Cys)
c.2722+412C>G
c.3863C>G (p.Ser1288Cys)
c.2842C>G
n.937C>G
n.3147C>G
n.193C>G
n.3970C>G
c.3980C>G (p.Ser1327Cys)
c.3959C>G (p.Ser1320Cys)
c.3941C>G (p.Ser1314Cys)
c.3923C>G (p.Ser1308Cys)
c.3884C>G (p.Ser1295Cys)
c.3845C>G (p.Ser1282Cys)
c.3569C>G (p.Ser1190Cys)
c.3530C>G (p.Ser1177Cys)
c.3920C>G (p.Ser1307Cys)
c.3827C>G (p.Ser1276Cys)
c.3302C>G (p.Ser1101Cys)
c.3617C>G (p.Ser1206Cys)
n.8189C>G
3g.9475568C>TCA351691176SETD5n.2761C>T
c.3902C>T (p.Ser1301Phe)
n.4795C>T
n.2186C>T
n.6603C>T
n.6048C>T
c.3806C>T (p.Ser1269Phe)
c.*3952C>T (n.*3952C>T)
c.*3875C>T (n.*3875C>T)
c.*4180C>T (n.*4180C>T)
c.*3911C>T (n.*3911C>T)
c.3512C>T (p.Ser1171Phe)
c.2722+412C>T
c.3863C>T (p.Ser1288Phe)
c.2842C>T
n.937C>T
n.3147C>T
n.193C>T
n.3970C>T
c.3980C>T (p.Ser1327Phe)
c.3959C>T (p.Ser1320Phe)
c.3941C>T (p.Ser1314Phe)
c.3923C>T (p.Ser1308Phe)
c.3884C>T (p.Ser1295Phe)
c.3845C>T (p.Ser1282Phe)
c.3569C>T (p.Ser1190Phe)
c.3530C>T (p.Ser1177Phe)
c.3920C>T (p.Ser1307Phe)
c.3827C>T (p.Ser1276Phe)
c.3302C>T (p.Ser1101Phe)
c.3617C>T (p.Ser1206Phe)
n.8189C>T
 dbSNP
3g.9475569T>ACA432528488SETD5n.2762T>A
c.3903T>A (p.Ser1301=)
n.4796T>A
n.2187T>A
n.6604T>A
n.6049T>A
c.3807T>A (p.Ser1269=)
c.*3953T>A (n.*3953T>A)
c.*3876T>A (n.*3876T>A)
c.*4181T>A (n.*4181T>A)
c.*3912T>A (n.*3912T>A)
c.3513T>A (p.Ser1171=)
c.2722+413T>A
c.3864T>A (p.Ser1288=)
c.2843T>A
n.938T>A
n.3148T>A
n.194T>A
n.3971T>A
c.3981T>A (p.Ser1327=)
c.3960T>A (p.Ser1320=)
c.3942T>A (p.Ser1314=)
c.3924T>A (p.Ser1308=)
c.3885T>A (p.Ser1295=)
c.3846T>A (p.Ser1282=)
c.3570T>A (p.Ser1190=)
c.3531T>A (p.Ser1177=)
c.3921T>A (p.Ser1307=)
c.3828T>A (p.Ser1276=)
c.3303T>A (p.Ser1101=)
c.3618T>A (p.Ser1206=)
n.8190T>A
3g.9475569T>CCA432528492SETD5n.2762T>C
c.3903T>C (p.Ser1301=)
n.4796T>C
n.2187T>C
n.6604T>C
n.6049T>C
c.3807T>C (p.Ser1269=)
c.*3953T>C (n.*3953T>C)
c.*3876T>C (n.*3876T>C)
c.*4181T>C (n.*4181T>C)
c.*3912T>C (n.*3912T>C)
c.3513T>C (p.Ser1171=)
c.2722+413T>C
c.3864T>C (p.Ser1288=)
c.2843T>C
n.938T>C
n.3148T>C
n.194T>C
n.3971T>C
c.3981T>C (p.Ser1327=)
c.3960T>C (p.Ser1320=)
c.3942T>C (p.Ser1314=)
c.3924T>C (p.Ser1308=)
c.3885T>C (p.Ser1295=)
c.3846T>C (p.Ser1282=)
c.3570T>C (p.Ser1190=)
c.3531T>C (p.Ser1177=)
c.3921T>C (p.Ser1307=)
c.3828T>C (p.Ser1276=)
c.3303T>C (p.Ser1101=)
c.3618T>C (p.Ser1206=)
n.8190T>C
 gnomAD v4
3g.9475569T>GCA432528494SETD5n.2762T>G
c.3903T>G (p.Ser1301=)
n.4796T>G
n.2187T>G
n.6604T>G
n.6049T>G
c.3807T>G (p.Ser1269=)
c.*3953T>G (n.*3953T>G)
c.*3876T>G (n.*3876T>G)
c.*4181T>G (n.*4181T>G)
c.*3912T>G (n.*3912T>G)
c.3513T>G (p.Ser1171=)
c.2722+413T>G
c.3864T>G (p.Ser1288=)
c.2843T>G
n.938T>G
n.3148T>G
n.194T>G
n.3971T>G
c.3981T>G (p.Ser1327=)
c.3960T>G (p.Ser1320=)
c.3942T>G (p.Ser1314=)
c.3924T>G (p.Ser1308=)
c.3885T>G (p.Ser1295=)
c.3846T>G (p.Ser1282=)
c.3570T>G (p.Ser1190=)
c.3531T>G (p.Ser1177=)
c.3921T>G (p.Ser1307=)
c.3828T>G (p.Ser1276=)
c.3303T>G (p.Ser1101=)
c.3618T>G (p.Ser1206=)
n.8190T>G
3g.9475570C>ACA351691196SETD5n.2763C>A
c.3904C>A (p.Pro1302Thr)
n.4797C>A
n.2188C>A
n.6605C>A
n.6050C>A
c.3808C>A (p.Pro1270Thr)
c.*3954C>A (n.*3954C>A)
c.*3877C>A (n.*3877C>A)
c.*4182C>A (n.*4182C>A)
c.*3913C>A (n.*3913C>A)
c.3514C>A (p.Pro1172Thr)
c.2722+414C>A
c.3865C>A (p.Pro1289Thr)
c.2844C>A
n.939C>A
n.3149C>A
n.195C>A
n.3972C>A
c.3982C>A (p.Pro1328Thr)
c.3961C>A (p.Pro1321Thr)
c.3943C>A (p.Pro1315Thr)
c.3925C>A (p.Pro1309Thr)
c.3886C>A (p.Pro1296Thr)
c.3847C>A (p.Pro1283Thr)
c.3571C>A (p.Pro1191Thr)
c.3532C>A (p.Pro1178Thr)
c.3922C>A (p.Pro1308Thr)
c.3829C>A (p.Pro1277Thr)
c.3304C>A (p.Pro1102Thr)
c.3619C>A (p.Pro1207Thr)
n.8191C>A
3g.9475570C=CA1344742425SETD5n.2763C=
c.3904C= (p.Pro1302=)
n.4797C=
n.2188C=
n.6605C=
n.6050C=
c.3808C= (p.Pro1270=)
c.*3954C= (n.*3954C=)
c.*3877C= (n.*3877C=)
c.*4182C= (n.*4182C=)
c.*3913C= (n.*3913C=)
c.3514C= (p.Pro1172=)
c.2722+414C=
c.3865C= (p.Pro1289=)
c.2844C=
n.939C=
n.3149C=
n.195C=
n.3972C=
c.3982C= (p.Pro1328=)
c.3961C= (p.Pro1321=)
c.3943C= (p.Pro1315=)
c.3925C= (p.Pro1309=)
c.3886C= (p.Pro1296=)
c.3847C= (p.Pro1283=)
c.3571C= (p.Pro1191=)
c.3532C= (p.Pro1178=)
c.3922C= (p.Pro1308=)
c.3829C= (p.Pro1277=)
c.3304C= (p.Pro1102=)
c.3619C= (p.Pro1207=)
n.8191C=
3g.9475570C>GCA2239803SETD5n.2763C>G
c.3904C>G (p.Pro1302Ala)
n.4797C>G
n.2188C>G
n.6605C>G
n.6050C>G
c.3808C>G (p.Pro1270Ala)
c.*3954C>G (n.*3954C>G)
c.*3877C>G (n.*3877C>G)
c.*4182C>G (n.*4182C>G)
c.*3913C>G (n.*3913C>G)
c.3514C>G (p.Pro1172Ala)
c.2722+414C>G
c.3865C>G (p.Pro1289Ala)
c.2844C>G
n.939C>G
n.3149C>G
n.195C>G
n.3972C>G
c.3982C>G (p.Pro1328Ala)
c.3961C>G (p.Pro1321Ala)
c.3943C>G (p.Pro1315Ala)
c.3925C>G (p.Pro1309Ala)
c.3886C>G (p.Pro1296Ala)
c.3847C>G (p.Pro1283Ala)
c.3571C>G (p.Pro1191Ala)
c.3532C>G (p.Pro1178Ala)
c.3922C>G (p.Pro1308Ala)
c.3829C>G (p.Pro1277Ala)
c.3304C>G (p.Pro1102Ala)
c.3619C>G (p.Pro1207Ala)
n.8191C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.9475570C>TCA351691199SETD5n.2763C>T
c.3904C>T (p.Pro1302Ser)
n.4797C>T
n.2188C>T
n.6605C>T
n.6050C>T
c.3808C>T (p.Pro1270Ser)
c.*3954C>T (n.*3954C>T)
c.*3877C>T (n.*3877C>T)
c.*4182C>T (n.*4182C>T)
c.*3913C>T (n.*3913C>T)
c.3514C>T (p.Pro1172Ser)
c.2722+414C>T
c.3865C>T (p.Pro1289Ser)
c.2844C>T
n.939C>T
n.3149C>T
n.195C>T
n.3972C>T
c.3982C>T (p.Pro1328Ser)
c.3961C>T (p.Pro1321Ser)
c.3943C>T (p.Pro1315Ser)
c.3925C>T (p.Pro1309Ser)
c.3886C>T (p.Pro1296Ser)
c.3847C>T (p.Pro1283Ser)
c.3571C>T (p.Pro1191Ser)
c.3532C>T (p.Pro1178Ser)
c.3922C>T (p.Pro1308Ser)
c.3829C>T (p.Pro1277Ser)
c.3304C>T (p.Pro1102Ser)
c.3619C>T (p.Pro1207Ser)
n.8191C>T
3g.9475571C>ACA351691201SETD5n.2764C>A
c.3905C>A (p.Pro1302Gln)
n.4798C>A
n.2189C>A
n.6606C>A
n.6051C>A
c.3809C>A (p.Pro1270Gln)
c.*3955C>A (n.*3955C>A)
c.*3878C>A (n.*3878C>A)
c.*4183C>A (n.*4183C>A)
c.*3914C>A (n.*3914C>A)
c.3515C>A (p.Pro1172Gln)
c.2722+415C>A
c.3866C>A (p.Pro1289Gln)
c.2845C>A
n.940C>A
n.3150C>A
n.196C>A
n.3973C>A
c.3983C>A (p.Pro1328Gln)
c.3962C>A (p.Pro1321Gln)
c.3944C>A (p.Pro1315Gln)
c.3926C>A (p.Pro1309Gln)
c.3887C>A (p.Pro1296Gln)
c.3848C>A (p.Pro1283Gln)
c.3572C>A (p.Pro1191Gln)
c.3533C>A (p.Pro1178Gln)
c.3923C>A (p.Pro1308Gln)
c.3830C>A (p.Pro1277Gln)
c.3305C>A (p.Pro1102Gln)
c.3620C>A (p.Pro1207Gln)
n.8192C>A
3g.9475571C>GCA351691204SETD5n.2764C>G
c.3905C>G (p.Pro1302Arg)
n.4798C>G
n.2189C>G
n.6606C>G
n.6051C>G
c.3809C>G (p.Pro1270Arg)
c.*3955C>G (n.*3955C>G)
c.*3878C>G (n.*3878C>G)
c.*4183C>G (n.*4183C>G)
c.*3914C>G (n.*3914C>G)
c.3515C>G (p.Pro1172Arg)
c.2722+415C>G
c.3866C>G (p.Pro1289Arg)
c.2845C>G
n.940C>G
n.3150C>G
n.196C>G
n.3973C>G
c.3983C>G (p.Pro1328Arg)
c.3962C>G (p.Pro1321Arg)
c.3944C>G (p.Pro1315Arg)
c.3926C>G (p.Pro1309Arg)
c.3887C>G (p.Pro1296Arg)
c.3848C>G (p.Pro1283Arg)
c.3572C>G (p.Pro1191Arg)
c.3533C>G (p.Pro1178Arg)
c.3923C>G (p.Pro1308Arg)
c.3830C>G (p.Pro1277Arg)
c.3305C>G (p.Pro1102Arg)
c.3620C>G (p.Pro1207Arg)
n.8192C>G
3g.9475571C>TCA351691207SETD5n.2764C>T
c.3905C>T (p.Pro1302Leu)
n.4798C>T
n.2189C>T
n.6606C>T
n.6051C>T
c.3809C>T (p.Pro1270Leu)
c.*3955C>T (n.*3955C>T)
c.*3878C>T (n.*3878C>T)
c.*4183C>T (n.*4183C>T)
c.*3914C>T (n.*3914C>T)
c.3515C>T (p.Pro1172Leu)
c.2722+415C>T
c.3866C>T (p.Pro1289Leu)
c.2845C>T
n.940C>T
n.3150C>T
n.196C>T
n.3973C>T
c.3983C>T (p.Pro1328Leu)
c.3962C>T (p.Pro1321Leu)
c.3944C>T (p.Pro1315Leu)
c.3926C>T (p.Pro1309Leu)
c.3887C>T (p.Pro1296Leu)
c.3848C>T (p.Pro1283Leu)
c.3572C>T (p.Pro1191Leu)
c.3533C>T (p.Pro1178Leu)
c.3923C>T (p.Pro1308Leu)
c.3830C>T (p.Pro1277Leu)
c.3305C>T (p.Pro1102Leu)
c.3620C>T (p.Pro1207Leu)
n.8192C>T
 gnomAD v4
3g.9475572A>CCA432528505SETD5n.2765A>C
c.3906A>C (p.Pro1302=)
n.4799A>C
n.2190A>C
n.6607A>C
n.6052A>C
c.3810A>C (p.Pro1270=)
c.*3956A>C (n.*3956A>C)
c.*3879A>C (n.*3879A>C)
c.*4184A>C (n.*4184A>C)
c.*3915A>C (n.*3915A>C)
c.3516A>C (p.Pro1172=)
c.2722+416A>C
c.3867A>C (p.Pro1289=)
c.2846A>C
n.941A>C
n.3151A>C
n.197A>C
n.3974A>C
c.3984A>C (p.Pro1328=)
c.3963A>C (p.Pro1321=)
c.3945A>C (p.Pro1315=)
c.3927A>C (p.Pro1309=)
c.3888A>C (p.Pro1296=)
c.3849A>C (p.Pro1283=)
c.3573A>C (p.Pro1191=)
c.3534A>C (p.Pro1178=)
c.3924A>C (p.Pro1308=)
c.3831A>C (p.Pro1277=)
c.3306A>C (p.Pro1102=)
c.3621A>C (p.Pro1207=)
n.8193A>C
3g.9475572A>GCA432528500SETD5n.2765A>G
c.3906A>G (p.Pro1302=)
n.4799A>G
n.2190A>G
n.6607A>G
n.6052A>G
c.3810A>G (p.Pro1270=)
c.*3956A>G (n.*3956A>G)
c.*3879A>G (n.*3879A>G)
c.*4184A>G (n.*4184A>G)
c.*3915A>G (n.*3915A>G)
c.3516A>G (p.Pro1172=)
c.2722+416A>G
c.3867A>G (p.Pro1289=)
c.2846A>G
n.941A>G
n.3151A>G
n.197A>G
n.3974A>G
c.3984A>G (p.Pro1328=)
c.3963A>G (p.Pro1321=)
c.3945A>G (p.Pro1315=)
c.3927A>G (p.Pro1309=)
c.3888A>G (p.Pro1296=)
c.3849A>G (p.Pro1283=)
c.3573A>G (p.Pro1191=)
c.3534A>G (p.Pro1178=)
c.3924A>G (p.Pro1308=)
c.3831A>G (p.Pro1277=)
c.3306A>G (p.Pro1102=)
c.3621A>G (p.Pro1207=)
n.8193A>G
 gnomAD v4
3g.9475572A>TCA432528503SETD5n.2765A>T
c.3906A>T (p.Pro1302=)
n.4799A>T
n.2190A>T
n.6607A>T
n.6052A>T
c.3810A>T (p.Pro1270=)
c.*3956A>T (n.*3956A>T)
c.*3879A>T (n.*3879A>T)
c.*4184A>T (n.*4184A>T)
c.*3915A>T (n.*3915A>T)
c.3516A>T (p.Pro1172=)
c.2722+416A>T
c.3867A>T (p.Pro1289=)
c.2846A>T
n.941A>T
n.3151A>T
n.197A>T
n.3974A>T
c.3984A>T (p.Pro1328=)
c.3963A>T (p.Pro1321=)
c.3945A>T (p.Pro1315=)
c.3927A>T (p.Pro1309=)
c.3888A>T (p.Pro1296=)
c.3849A>T (p.Pro1283=)
c.3573A>T (p.Pro1191=)
c.3534A>T (p.Pro1178=)
c.3924A>T (p.Pro1308=)
c.3831A>T (p.Pro1277=)
c.3306A>T (p.Pro1102=)
c.3621A>T (p.Pro1207=)
n.8193A>T
3g.9475573G>ACA351691214SETD5n.2766G>A
c.3907G>A (p.Gly1303Arg)
n.4800G>A
n.2191G>A
n.6608G>A
n.6053G>A
c.3811G>A (p.Gly1271Arg)
c.*3957G>A (n.*3957G>A)
c.*3880G>A (n.*3880G>A)
c.*4185G>A (n.*4185G>A)
c.*3916G>A (n.*3916G>A)
c.3517G>A (p.Gly1173Arg)
c.2722+417G>A
c.3868G>A (p.Gly1290Arg)
c.2847G>A
n.942G>A
n.3152G>A
n.198G>A
n.3975G>A
c.3985G>A (p.Gly1329Arg)
c.3964G>A (p.Gly1322Arg)
c.3946G>A (p.Gly1316Arg)
c.3928G>A (p.Gly1310Arg)
c.3889G>A (p.Gly1297Arg)
c.3850G>A (p.Gly1284Arg)
c.3574G>A (p.Gly1192Arg)
c.3535G>A (p.Gly1179Arg)
c.3925G>A (p.Gly1309Arg)
c.3832G>A (p.Gly1278Arg)
c.3307G>A (p.Gly1103Arg)
c.3622G>A (p.Gly1208Arg)
n.8194G>A
3g.9475573G>CCA351691222SETD5n.2766G>C
c.3907G>C (p.Gly1303Arg)
n.4800G>C
n.2191G>C
n.6608G>C
n.6053G>C
c.3811G>C (p.Gly1271Arg)
c.*3957G>C (n.*3957G>C)
c.*3880G>C (n.*3880G>C)
c.*4185G>C (n.*4185G>C)
c.*3916G>C (n.*3916G>C)
c.3517G>C (p.Gly1173Arg)
c.2722+417G>C
c.3868G>C (p.Gly1290Arg)
c.2847G>C
n.942G>C
n.3152G>C
n.198G>C
n.3975G>C
c.3985G>C (p.Gly1329Arg)
c.3964G>C (p.Gly1322Arg)
c.3946G>C (p.Gly1316Arg)
c.3928G>C (p.Gly1310Arg)
c.3889G>C (p.Gly1297Arg)
c.3850G>C (p.Gly1284Arg)
c.3574G>C (p.Gly1192Arg)
c.3535G>C (p.Gly1179Arg)
c.3925G>C (p.Gly1309Arg)
c.3832G>C (p.Gly1278Arg)
c.3307G>C (p.Gly1103Arg)
c.3622G>C (p.Gly1208Arg)
n.8194G>C
3g.9475573G>TCA351691225SETD5n.2766G>T
c.3907G>T (p.Gly1303Ter)
n.4800G>T
n.2191G>T
n.6608G>T
n.6053G>T
c.3811G>T (p.Gly1271Ter)
c.*3957G>T (n.*3957G>T)
c.*3880G>T (n.*3880G>T)
c.*4185G>T (n.*4185G>T)
c.*3916G>T (n.*3916G>T)
c.3517G>T (p.Gly1173Ter)
c.2722+417G>T
c.3868G>T (p.Gly1290Ter)
c.2847G>T
n.942G>T
n.3152G>T
n.198G>T
n.3975G>T
c.3985G>T (p.Gly1329Ter)
c.3964G>T (p.Gly1322Ter)
c.3946G>T (p.Gly1316Ter)
c.3928G>T (p.Gly1310Ter)
c.3889G>T (p.Gly1297Ter)
c.3850G>T (p.Gly1284Ter)
c.3574G>T (p.Gly1192Ter)
c.3535G>T (p.Gly1179Ter)
c.3925G>T (p.Gly1309Ter)
c.3832G>T (p.Gly1278Ter)
c.3307G>T (p.Gly1103Ter)
c.3622G>T (p.Gly1208Ter)
n.8194G>T
3g.9475574G>ACA351691238SETD5n.2767G>A
c.3908G>A (p.Gly1303Glu)
n.4801G>A
n.2192G>A
n.6609G>A
n.6054G>A
c.3812G>A (p.Gly1271Glu)
c.*3958G>A (n.*3958G>A)
c.*3881G>A (n.*3881G>A)
c.*4186G>A (n.*4186G>A)
c.*3917G>A (n.*3917G>A)
c.3518G>A (p.Gly1173Glu)
c.2722+418G>A
c.3869G>A (p.Gly1290Glu)
c.2848G>A
n.943G>A
n.3153G>A
n.199G>A
n.3976G>A
c.3986G>A (p.Gly1329Glu)
c.3965G>A (p.Gly1322Glu)
c.3947G>A (p.Gly1316Glu)
c.3929G>A (p.Gly1310Glu)
c.3890G>A (p.Gly1297Glu)
c.3851G>A (p.Gly1284Glu)
c.3575G>A (p.Gly1192Glu)
c.3536G>A (p.Gly1179Glu)
c.3926G>A (p.Gly1309Glu)
c.3833G>A (p.Gly1278Glu)
c.3308G>A (p.Gly1103Glu)
c.3623G>A (p.Gly1208Glu)
n.8195G>A
3g.9475574G>CCA351691239SETD5n.2767G>C
c.3908G>C (p.Gly1303Ala)
n.4801G>C
n.2192G>C
n.6609G>C
n.6054G>C
c.3812G>C (p.Gly1271Ala)
c.*3958G>C (n.*3958G>C)
c.*3881G>C (n.*3881G>C)
c.*4186G>C (n.*4186G>C)
c.*3917G>C (n.*3917G>C)
c.3518G>C (p.Gly1173Ala)
c.2722+418G>C
c.3869G>C (p.Gly1290Ala)
c.2848G>C
n.943G>C
n.3153G>C
n.199G>C
n.3976G>C
c.3986G>C (p.Gly1329Ala)
c.3965G>C (p.Gly1322Ala)
c.3947G>C (p.Gly1316Ala)
c.3929G>C (p.Gly1310Ala)
c.3890G>C (p.Gly1297Ala)
c.3851G>C (p.Gly1284Ala)
c.3575G>C (p.Gly1192Ala)
c.3536G>C (p.Gly1179Ala)
c.3926G>C (p.Gly1309Ala)
c.3833G>C (p.Gly1278Ala)
c.3308G>C (p.Gly1103Ala)
c.3623G>C (p.Gly1208Ala)
n.8195G>C
3g.9475574G>TCA351691240SETD5n.2767G>T
c.3908G>T (p.Gly1303Val)
n.4801G>T
n.2192G>T
n.6609G>T
n.6054G>T
c.3812G>T (p.Gly1271Val)
c.*3958G>T (n.*3958G>T)
c.*3881G>T (n.*3881G>T)
c.*4186G>T (n.*4186G>T)
c.*3917G>T (n.*3917G>T)
c.3518G>T (p.Gly1173Val)
c.2722+418G>T
c.3869G>T (p.Gly1290Val)
c.2848G>T
n.943G>T
n.3153G>T
n.199G>T
n.3976G>T
c.3986G>T (p.Gly1329Val)
c.3965G>T (p.Gly1322Val)
c.3947G>T (p.Gly1316Val)
c.3929G>T (p.Gly1310Val)
c.3890G>T (p.Gly1297Val)
c.3851G>T (p.Gly1284Val)
c.3575G>T (p.Gly1192Val)
c.3536G>T (p.Gly1179Val)
c.3926G>T (p.Gly1309Val)
c.3833G>T (p.Gly1278Val)
c.3308G>T (p.Gly1103Val)
c.3623G>T (p.Gly1208Val)
n.8195G>T
3g.9475575A>CCA432528510SETD5n.2768A>C
c.3909A>C (p.Gly1303=)
n.4802A>C
n.2193A>C
n.6610A>C
n.6055A>C
c.3813A>C (p.Gly1271=)
c.*3959A>C (n.*3959A>C)
c.*3882A>C (n.*3882A>C)
c.*4187A>C (n.*4187A>C)
c.*3918A>C (n.*3918A>C)
c.3519A>C (p.Gly1173=)
c.2722+419A>C
c.3870A>C (p.Gly1290=)
c.2849A>C
n.944A>C
n.3154A>C
n.200A>C
n.3977A>C
c.3987A>C (p.Gly1329=)
c.3966A>C (p.Gly1322=)
c.3948A>C (p.Gly1316=)
c.3930A>C (p.Gly1310=)
c.3891A>C (p.Gly1297=)
c.3852A>C (p.Gly1284=)
c.3576A>C (p.Gly1192=)
c.3537A>C (p.Gly1179=)
c.3927A>C (p.Gly1309=)
c.3834A>C (p.Gly1278=)
c.3309A>C (p.Gly1103=)
c.3624A>C (p.Gly1208=)
n.8196A>C
3g.9475575A>GCA432528512SETD5n.2768A>G
c.3909A>G (p.Gly1303=)
n.4802A>G
n.2193A>G
n.6610A>G
n.6055A>G
c.3813A>G (p.Gly1271=)
c.*3959A>G (n.*3959A>G)
c.*3882A>G (n.*3882A>G)
c.*4187A>G (n.*4187A>G)
c.*3918A>G (n.*3918A>G)
c.3519A>G (p.Gly1173=)
c.2722+419A>G
c.3870A>G (p.Gly1290=)
c.2849A>G
n.944A>G
n.3154A>G
n.200A>G
n.3977A>G
c.3987A>G (p.Gly1329=)
c.3966A>G (p.Gly1322=)
c.3948A>G (p.Gly1316=)
c.3930A>G (p.Gly1310=)
c.3891A>G (p.Gly1297=)
c.3852A>G (p.Gly1284=)
c.3576A>G (p.Gly1192=)
c.3537A>G (p.Gly1179=)
c.3927A>G (p.Gly1309=)
c.3834A>G (p.Gly1278=)
c.3309A>G (p.Gly1103=)
c.3624A>G (p.Gly1208=)
n.8196A>G
 gnomAD v4
3g.9475575A>TCA432528513SETD5n.2768A>T
c.3909A>T (p.Gly1303=)
n.4802A>T
n.2193A>T
n.6610A>T
n.6055A>T
c.3813A>T (p.Gly1271=)
c.*3959A>T (n.*3959A>T)
c.*3882A>T (n.*3882A>T)
c.*4187A>T (n.*4187A>T)
c.*3918A>T (n.*3918A>T)
c.3519A>T (p.Gly1173=)
c.2722+419A>T
c.3870A>T (p.Gly1290=)
c.2849A>T
n.944A>T
n.3154A>T
n.200A>T
n.3977A>T
c.3987A>T (p.Gly1329=)
c.3966A>T (p.Gly1322=)
c.3948A>T (p.Gly1316=)
c.3930A>T (p.Gly1310=)
c.3891A>T (p.Gly1297=)
c.3852A>T (p.Gly1284=)
c.3576A>T (p.Gly1192=)
c.3537A>T (p.Gly1179=)
c.3927A>T (p.Gly1309=)
c.3834A>T (p.Gly1278=)
c.3309A>T (p.Gly1103=)
c.3624A>T (p.Gly1208=)
n.8196A>T
3g.9475576T>ACA351691251SETD5n.2769T>A
c.3910T>A (p.Tyr1304Asn)
n.4803T>A
n.2194T>A
n.6611T>A
n.6056T>A
c.3814T>A (p.Tyr1272Asn)
c.*3960T>A (n.*3960T>A)
c.*3883T>A (n.*3883T>A)
c.*4188T>A (n.*4188T>A)
c.*3919T>A (n.*3919T>A)
c.3520T>A (p.Tyr1174Asn)
c.2722+420T>A
c.3871T>A (p.Tyr1291Asn)
c.2850T>A
n.945T>A
n.3155T>A
n.201T>A
n.3978T>A
c.3988T>A (p.Tyr1330Asn)
c.3967T>A (p.Tyr1323Asn)
c.3949T>A (p.Tyr1317Asn)
c.3931T>A (p.Tyr1311Asn)
c.3892T>A (p.Tyr1298Asn)
c.3853T>A (p.Tyr1285Asn)
c.3577T>A (p.Tyr1193Asn)
c.3538T>A (p.Tyr1180Asn)
c.3928T>A (p.Tyr1310Asn)
c.3835T>A (p.Tyr1279Asn)
c.3310T>A (p.Tyr1104Asn)
c.3625T>A (p.Tyr1209Asn)
n.8197T>A
3g.9475576T>CCA351691247SETD5n.2769T>C
c.3910T>C (p.Tyr1304His)
n.4803T>C
n.2194T>C
n.6611T>C
n.6056T>C
c.3814T>C (p.Tyr1272His)
c.*3960T>C (n.*3960T>C)
c.*3883T>C (n.*3883T>C)
c.*4188T>C (n.*4188T>C)
c.*3919T>C (n.*3919T>C)
c.3520T>C (p.Tyr1174His)
c.2722+420T>C
c.3871T>C (p.Tyr1291His)
c.2850T>C
n.945T>C
n.3155T>C
n.201T>C
n.3978T>C
c.3988T>C (p.Tyr1330His)
c.3967T>C (p.Tyr1323His)
c.3949T>C (p.Tyr1317His)
c.3931T>C (p.Tyr1311His)
c.3892T>C (p.Tyr1298His)
c.3853T>C (p.Tyr1285His)
c.3577T>C (p.Tyr1193His)
c.3538T>C (p.Tyr1180His)
c.3928T>C (p.Tyr1310His)
c.3835T>C (p.Tyr1279His)
c.3310T>C (p.Tyr1104His)
c.3625T>C (p.Tyr1209His)
n.8197T>C
 gnomAD v4
3g.9475576T>GCA351691243SETD5n.2769T>G
c.3910T>G (p.Tyr1304Asp)
n.4803T>G
n.2194T>G
n.6611T>G
n.6056T>G
c.3814T>G (p.Tyr1272Asp)
c.*3960T>G (n.*3960T>G)
c.*3883T>G (n.*3883T>G)
c.*4188T>G (n.*4188T>G)
c.*3919T>G (n.*3919T>G)
c.3520T>G (p.Tyr1174Asp)
c.2722+420T>G
c.3871T>G (p.Tyr1291Asp)
c.2850T>G
n.945T>G
n.3155T>G
n.201T>G
n.3978T>G
c.3988T>G (p.Tyr1330Asp)
c.3967T>G (p.Tyr1323Asp)
c.3949T>G (p.Tyr1317Asp)
c.3931T>G (p.Tyr1311Asp)
c.3892T>G (p.Tyr1298Asp)
c.3853T>G (p.Tyr1285Asp)
c.3577T>G (p.Tyr1193Asp)
c.3538T>G (p.Tyr1180Asp)
c.3928T>G (p.Tyr1310Asp)
c.3835T>G (p.Tyr1279Asp)
c.3310T>G (p.Tyr1104Asp)
c.3625T>G (p.Tyr1209Asp)
n.8197T>G
3g.9475576_9475578delinsTACCA1344742430SETD5n.2769_2771delinsTAC
c.3910_3912delinsTAC (p.Tyr1304=)
n.4803_4805delinsTAC
n.2194_2196delinsTAC
n.6611_6613delinsTAC
n.6056_6058delinsTAC
c.3814_3816delinsTAC (p.Tyr1272=)
c.*3960_*3962delinsTAC (n.*3960_*3962delinsTAC)
c.*3883_*3885delinsTAC (n.*3883_*3885delinsTAC)
c.*4188_*4190delinsTAC (n.*4188_*4190delinsTAC)
c.*3919_*3921delinsTAC (n.*3919_*3921delinsTAC)
c.3520_3522delinsTAC (p.Tyr1174=)
c.2722+420_2722+422delinsTAC
c.3871_3873delinsTAC (p.Tyr1291=)
c.2850_2852delinsTAC
n.945_947delinsTAC
n.3155_3157delinsTAC
n.201_203delinsTAC
n.3978_3980delinsTAC
c.3988_3990delinsTAC (p.Tyr1330=)
c.3967_3969delinsTAC (p.Tyr1323=)
c.3949_3951delinsTAC (p.Tyr1317=)
c.3931_3933delinsTAC (p.Tyr1311=)
c.3892_3894delinsTAC (p.Tyr1298=)
c.3853_3855delinsTAC (p.Tyr1285=)
c.3577_3579delinsTAC (p.Tyr1193=)
c.3538_3540delinsTAC (p.Tyr1180=)
c.3928_3930delinsTAC (p.Tyr1310=)
c.3835_3837delinsTAC (p.Tyr1279=)
c.3310_3312delinsTAC (p.Tyr1104=)
c.3625_3627delinsTAC (p.Tyr1209=)
n.8197_8199delinsTAC
3g.9475577A>CCA351691255SETD5n.2770A>C
c.3911A>C (p.Tyr1304Ser)
n.4804A>C
n.2195A>C
n.6612A>C
n.6057A>C
c.3815A>C (p.Tyr1272Ser)
c.*3961A>C (n.*3961A>C)
c.*3884A>C (n.*3884A>C)
c.*4189A>C (n.*4189A>C)
c.*3920A>C (n.*3920A>C)
c.3521A>C (p.Tyr1174Ser)
c.2722+421A>C
c.3872A>C (p.Tyr1291Ser)
c.2851A>C
n.946A>C
n.3156A>C
n.202A>C
n.3979A>C
c.3989A>C (p.Tyr1330Ser)
c.3968A>C (p.Tyr1323Ser)
c.3950A>C (p.Tyr1317Ser)
c.3932A>C (p.Tyr1311Ser)
c.3893A>C (p.Tyr1298Ser)
c.3854A>C (p.Tyr1285Ser)
c.3578A>C (p.Tyr1193Ser)
c.3539A>C (p.Tyr1180Ser)
c.3929A>C (p.Tyr1310Ser)
c.3836A>C (p.Tyr1279Ser)
c.3311A>C (p.Tyr1104Ser)
c.3626A>C (p.Tyr1209Ser)
n.8198A>C
3g.9475577A>GCA351691260SETD5n.2770A>G
c.3911A>G (p.Tyr1304Cys)
n.4804A>G
n.2195A>G
n.6612A>G
n.6057A>G
c.3815A>G (p.Tyr1272Cys)
c.*3961A>G (n.*3961A>G)
c.*3884A>G (n.*3884A>G)
c.*4189A>G (n.*4189A>G)
c.*3920A>G (n.*3920A>G)
c.3521A>G (p.Tyr1174Cys)
c.2722+421A>G
c.3872A>G (p.Tyr1291Cys)
c.2851A>G
n.946A>G
n.3156A>G
n.202A>G
n.3979A>G
c.3989A>G (p.Tyr1330Cys)
c.3968A>G (p.Tyr1323Cys)
c.3950A>G (p.Tyr1317Cys)
c.3932A>G (p.Tyr1311Cys)
c.3893A>G (p.Tyr1298Cys)
c.3854A>G (p.Tyr1285Cys)
c.3578A>G (p.Tyr1193Cys)
c.3539A>G (p.Tyr1180Cys)
c.3929A>G (p.Tyr1310Cys)
c.3836A>G (p.Tyr1279Cys)
c.3311A>G (p.Tyr1104Cys)
c.3626A>G (p.Tyr1209Cys)
n.8198A>G
3g.9475577A>TCA351691262SETD5n.2770A>T
c.3911A>T (p.Tyr1304Phe)
n.4804A>T
n.2195A>T
n.6612A>T
n.6057A>T
c.3815A>T (p.Tyr1272Phe)
c.*3961A>T (n.*3961A>T)
c.*3884A>T (n.*3884A>T)
c.*4189A>T (n.*4189A>T)
c.*3920A>T (n.*3920A>T)
c.3521A>T (p.Tyr1174Phe)
c.2722+421A>T
c.3872A>T (p.Tyr1291Phe)
c.2851A>T
n.946A>T
n.3156A>T
n.202A>T
n.3979A>T
c.3989A>T (p.Tyr1330Phe)
c.3968A>T (p.Tyr1323Phe)
c.3950A>T (p.Tyr1317Phe)
c.3932A>T (p.Tyr1311Phe)
c.3893A>T (p.Tyr1298Phe)
c.3854A>T (p.Tyr1285Phe)
c.3578A>T (p.Tyr1193Phe)
c.3539A>T (p.Tyr1180Phe)
c.3929A>T (p.Tyr1310Phe)
c.3836A>T (p.Tyr1279Phe)
c.3311A>T (p.Tyr1104Phe)
c.3626A>T (p.Tyr1209Phe)
n.8198A>T
3g.9475578_9475579delCA912791089SETD5n.2771_2772del
c.3912_3913del (p.Tyr1304Ter)
n.4805_4806del
n.2196_2197del
n.6613_6614del
n.6058_6059del
c.3816_3817del (p.Tyr1272Ter)
c.*3962_*3963del (n.*3962_*3963del)
c.*3885_*3886del (n.*3885_*3886del)
c.*4190_*4191del (n.*4190_*4191del)
c.*3921_*3922del (n.*3921_*3922del)
c.3522_3523del (p.Tyr1174Ter)
c.2722+422_2722+423del
c.3873_3874del (p.Tyr1291Ter)
c.2852_2853del
n.947_948del
n.3157_3158del
n.203_204del
n.3980_3981del
c.3990_3991del (p.Tyr1330Ter)
c.3969_3970del (p.Tyr1323Ter)
c.3951_3952del (p.Tyr1317Ter)
c.3933_3934del (p.Tyr1311Ter)
c.3894_3895del (p.Tyr1298Ter)
c.3855_3856del (p.Tyr1285Ter)
c.3579_3580del (p.Tyr1193Ter)
c.3540_3541del (p.Tyr1180Ter)
c.3930_3931del (p.Tyr1310Ter)
c.3837_3838del (p.Tyr1279Ter)
c.3312_3313del (p.Tyr1104Ter)
c.3627_3628del (p.Tyr1209Ter)
n.8199_8200del
 dbSNP
3g.9475578C>ACA351691264SETD5n.2771C>A
c.3912C>A (p.Tyr1304Ter)
n.4805C>A
n.2196C>A
n.6613C>A
n.6058C>A
c.3816C>A (p.Tyr1272Ter)
c.*3962C>A (n.*3962C>A)
c.*3885C>A (n.*3885C>A)
c.*4190C>A (n.*4190C>A)
c.*3921C>A (n.*3921C>A)
c.3522C>A (p.Tyr1174Ter)
c.2722+422C>A
c.3873C>A (p.Tyr1291Ter)
c.2852C>A
n.947C>A
n.3157C>A
n.203C>A
n.3980C>A
c.3990C>A (p.Tyr1330Ter)
c.3969C>A (p.Tyr1323Ter)
c.3951C>A (p.Tyr1317Ter)
c.3933C>A (p.Tyr1311Ter)
c.3894C>A (p.Tyr1298Ter)
c.3855C>A (p.Tyr1285Ter)
c.3579C>A (p.Tyr1193Ter)
c.3540C>A (p.Tyr1180Ter)
c.3930C>A (p.Tyr1310Ter)
c.3837C>A (p.Tyr1279Ter)
c.3312C>A (p.Tyr1104Ter)
c.3627C>A (p.Tyr1209Ter)
n.8199C>A
3g.9475578C=CA1344742435SETD5n.2771C=
c.3912C= (p.Tyr1304=)
n.4805C=
n.2196C=
n.6613C=
n.6058C=
c.3816C= (p.Tyr1272=)
c.*3962C= (n.*3962C=)
c.*3885C= (n.*3885C=)
c.*4190C= (n.*4190C=)
c.*3921C= (n.*3921C=)
c.3522C= (p.Tyr1174=)
c.2722+422C=
c.3873C= (p.Tyr1291=)
c.2852C=
n.947C=
n.3157C=
n.203C=
n.3980C=
c.3990C= (p.Tyr1330=)
c.3969C= (p.Tyr1323=)
c.3951C= (p.Tyr1317=)
c.3933C= (p.Tyr1311=)
c.3894C= (p.Tyr1298=)
c.3855C= (p.Tyr1285=)
c.3579C= (p.Tyr1193=)
c.3540C= (p.Tyr1180=)
c.3930C= (p.Tyr1310=)
c.3837C= (p.Tyr1279=)
c.3312C= (p.Tyr1104=)
c.3627C= (p.Tyr1209=)
n.8199C=
3g.9475578C>GCA351691267SETD5n.2771C>G
c.3912C>G (p.Tyr1304Ter)
n.4805C>G
n.2196C>G
n.6613C>G
n.6058C>G
c.3816C>G (p.Tyr1272Ter)
c.*3962C>G (n.*3962C>G)
c.*3885C>G (n.*3885C>G)
c.*4190C>G (n.*4190C>G)
c.*3921C>G (n.*3921C>G)
c.3522C>G (p.Tyr1174Ter)
c.2722+422C>G
c.3873C>G (p.Tyr1291Ter)
c.2852C>G
n.947C>G
n.3157C>G
n.203C>G
n.3980C>G
c.3990C>G (p.Tyr1330Ter)
c.3969C>G (p.Tyr1323Ter)
c.3951C>G (p.Tyr1317Ter)
c.3933C>G (p.Tyr1311Ter)
c.3894C>G (p.Tyr1298Ter)
c.3855C>G (p.Tyr1285Ter)
c.3579C>G (p.Tyr1193Ter)
c.3540C>G (p.Tyr1180Ter)
c.3930C>G (p.Tyr1310Ter)
c.3837C>G (p.Tyr1279Ter)
c.3312C>G (p.Tyr1104Ter)
c.3627C>G (p.Tyr1209Ter)
n.8199C>G
3g.9475578C>TCA432528520SETD5n.2771C>T
c.3912C>T (p.Tyr1304=)
n.4805C>T
n.2196C>T
n.6613C>T
n.6058C>T
c.3816C>T (p.Tyr1272=)
c.*3962C>T (n.*3962C>T)
c.*3885C>T (n.*3885C>T)
c.*4190C>T (n.*4190C>T)
c.*3921C>T (n.*3921C>T)
c.3522C>T (p.Tyr1174=)
c.2722+422C>T
c.3873C>T (p.Tyr1291=)
c.2852C>T
n.947C>T
n.3157C>T
n.203C>T
n.3980C>T
c.3990C>T (p.Tyr1330=)
c.3969C>T (p.Tyr1323=)
c.3951C>T (p.Tyr1317=)
c.3933C>T (p.Tyr1311=)
c.3894C>T (p.Tyr1298=)
c.3855C>T (p.Tyr1285=)
c.3579C>T (p.Tyr1193=)
c.3540C>T (p.Tyr1180=)
c.3930C>T (p.Tyr1310=)
c.3837C>T (p.Tyr1279=)
c.3312C>T (p.Tyr1104=)
c.3627C>T (p.Tyr1209=)
n.8199C>T
 dbSNP gnomAD v2 gnomAD v4
3g.9475579A=CA1344742438SETD5n.2772A=
c.3913A= (p.Ser1305=)
n.4806A=
n.2197A=
n.6614A=
n.6059A=
c.3817A= (p.Ser1273=)
c.*3963A= (n.*3963A=)
c.*3886A= (n.*3886A=)
c.*4191A= (n.*4191A=)
c.*3922A= (n.*3922A=)
c.3523A= (p.Ser1175=)
c.2722+423A=
c.3874A= (p.Ser1292=)
c.2853A=
n.948A=
n.3158A=
n.204A=
n.3981A=
c.3991A= (p.Ser1331=)
c.3970A= (p.Ser1324=)
c.3952A= (p.Ser1318=)
c.3934A= (p.Ser1312=)
c.3895A= (p.Ser1299=)
c.3856A= (p.Ser1286=)
c.3580A= (p.Ser1194=)
c.3541A= (p.Ser1181=)
c.3931A= (p.Ser1311=)
c.3838A= (p.Ser1280=)
c.3313A= (p.Ser1105=)
c.3628A= (p.Ser1210=)
n.8200A=
3g.9475579A>CCA2239804SETD5n.2772A>C
c.3913A>C (p.Ser1305Arg)
n.4806A>C
n.2197A>C
n.6614A>C
n.6059A>C
c.3817A>C (p.Ser1273Arg)
c.*3963A>C (n.*3963A>C)
c.*3886A>C (n.*3886A>C)
c.*4191A>C (n.*4191A>C)
c.*3922A>C (n.*3922A>C)
c.3523A>C (p.Ser1175Arg)
c.2722+423A>C
c.3874A>C (p.Ser1292Arg)
c.2853A>C
n.948A>C
n.3158A>C
n.204A>C
n.3981A>C
c.3991A>C (p.Ser1331Arg)
c.3970A>C (p.Ser1324Arg)
c.3952A>C (p.Ser1318Arg)
c.3934A>C (p.Ser1312Arg)
c.3895A>C (p.Ser1299Arg)
c.3856A>C (p.Ser1286Arg)
c.3580A>C (p.Ser1194Arg)
c.3541A>C (p.Ser1181Arg)
c.3931A>C (p.Ser1311Arg)
c.3838A>C (p.Ser1280Arg)
c.3313A>C (p.Ser1105Arg)
c.3628A>C (p.Ser1210Arg)
n.8200A>C
 dbSNP ExAC gnomAD v2
3g.9475579A>GCA351691272SETD5n.2772A>G
c.3913A>G (p.Ser1305Gly)
n.4806A>G
n.2197A>G
n.6614A>G
n.6059A>G
c.3817A>G (p.Ser1273Gly)
c.*3963A>G (n.*3963A>G)
c.*3886A>G (n.*3886A>G)
c.*4191A>G (n.*4191A>G)
c.*3922A>G (n.*3922A>G)
c.3523A>G (p.Ser1175Gly)
c.2722+423A>G
c.3874A>G (p.Ser1292Gly)
c.2853A>G
n.948A>G
n.3158A>G
n.204A>G
n.3981A>G
c.3991A>G (p.Ser1331Gly)
c.3970A>G (p.Ser1324Gly)
c.3952A>G (p.Ser1318Gly)
c.3934A>G (p.Ser1312Gly)
c.3895A>G (p.Ser1299Gly)
c.3856A>G (p.Ser1286Gly)
c.3580A>G (p.Ser1194Gly)
c.3541A>G (p.Ser1181Gly)
c.3931A>G (p.Ser1311Gly)
c.3838A>G (p.Ser1280Gly)
c.3313A>G (p.Ser1105Gly)
c.3628A>G (p.Ser1210Gly)
n.8200A>G
 dbSNP gnomAD v4
3g.9475579A>TCA351691277SETD5n.2772A>T
c.3913A>T (p.Ser1305Cys)
n.4806A>T
n.2197A>T
n.6614A>T
n.6059A>T
c.3817A>T (p.Ser1273Cys)
c.*3963A>T (n.*3963A>T)
c.*3886A>T (n.*3886A>T)
c.*4191A>T (n.*4191A>T)
c.*3922A>T (n.*3922A>T)
c.3523A>T (p.Ser1175Cys)
c.2722+423A>T
c.3874A>T (p.Ser1292Cys)
c.2853A>T
n.948A>T
n.3158A>T
n.204A>T
n.3981A>T
c.3991A>T (p.Ser1331Cys)
c.3970A>T (p.Ser1324Cys)
c.3952A>T (p.Ser1318Cys)
c.3934A>T (p.Ser1312Cys)
c.3895A>T (p.Ser1299Cys)
c.3856A>T (p.Ser1286Cys)
c.3580A>T (p.Ser1194Cys)
c.3541A>T (p.Ser1181Cys)
c.3931A>T (p.Ser1311Cys)
c.3838A>T (p.Ser1280Cys)
c.3313A>T (p.Ser1105Cys)
c.3628A>T (p.Ser1210Cys)
n.8200A>T
3g.9475580G>ACA351691281SETD5n.2773G>A
c.3914G>A (p.Ser1305Asn)
n.4807G>A
n.2198G>A
n.6615G>A
n.6060G>A
c.3818G>A (p.Ser1273Asn)
c.*3964G>A (n.*3964G>A)
c.*3887G>A (n.*3887G>A)
c.*4192G>A (n.*4192G>A)
c.*3923G>A (n.*3923G>A)
c.3524G>A (p.Ser1175Asn)
c.2722+424G>A
c.3875G>A (p.Ser1292Asn)
c.2854G>A
n.949G>A
n.3159G>A
n.205G>A
n.3982G>A
c.3992G>A (p.Ser1331Asn)
c.3971G>A (p.Ser1324Asn)
c.3953G>A (p.Ser1318Asn)
c.3935G>A (p.Ser1312Asn)
c.3896G>A (p.Ser1299Asn)
c.3857G>A (p.Ser1286Asn)
c.3581G>A (p.Ser1194Asn)
c.3542G>A (p.Ser1181Asn)
c.3932G>A (p.Ser1311Asn)
c.3839G>A (p.Ser1280Asn)
c.3314G>A (p.Ser1105Asn)
c.3629G>A (p.Ser1210Asn)
n.8201G>A
3g.9475580G>CCA351691284SETD5n.2773G>C
c.3914G>C (p.Ser1305Thr)
n.4807G>C
n.2198G>C
n.6615G>C
n.6060G>C
c.3818G>C (p.Ser1273Thr)
c.*3964G>C (n.*3964G>C)
c.*3887G>C (n.*3887G>C)
c.*4192G>C (n.*4192G>C)
c.*3923G>C (n.*3923G>C)
c.3524G>C (p.Ser1175Thr)
c.2722+424G>C
c.3875G>C (p.Ser1292Thr)
c.2854G>C
n.949G>C
n.3159G>C
n.205G>C
n.3982G>C
c.3992G>C (p.Ser1331Thr)
c.3971G>C (p.Ser1324Thr)
c.3953G>C (p.Ser1318Thr)
c.3935G>C (p.Ser1312Thr)
c.3896G>C (p.Ser1299Thr)
c.3857G>C (p.Ser1286Thr)
c.3581G>C (p.Ser1194Thr)
c.3542G>C (p.Ser1181Thr)
c.3932G>C (p.Ser1311Thr)
c.3839G>C (p.Ser1280Thr)
c.3314G>C (p.Ser1105Thr)
c.3629G>C (p.Ser1210Thr)
n.8201G>C
3g.9475580G>TCA351691287SETD5n.2773G>T
c.3914G>T (p.Ser1305Ile)
n.4807G>T
n.2198G>T
n.6615G>T
n.6060G>T
c.3818G>T (p.Ser1273Ile)
c.*3964G>T (n.*3964G>T)
c.*3887G>T (n.*3887G>T)
c.*4192G>T (n.*4192G>T)
c.*3923G>T (n.*3923G>T)
c.3524G>T (p.Ser1175Ile)
c.2722+424G>T
c.3875G>T (p.Ser1292Ile)
c.2854G>T
n.949G>T
n.3159G>T
n.205G>T
n.3982G>T
c.3992G>T (p.Ser1331Ile)
c.3971G>T (p.Ser1324Ile)
c.3953G>T (p.Ser1318Ile)
c.3935G>T (p.Ser1312Ile)
c.3896G>T (p.Ser1299Ile)
c.3857G>T (p.Ser1286Ile)
c.3581G>T (p.Ser1194Ile)
c.3542G>T (p.Ser1181Ile)
c.3932G>T (p.Ser1311Ile)
c.3839G>T (p.Ser1280Ile)
c.3314G>T (p.Ser1105Ile)
c.3629G>T (p.Ser1210Ile)
n.8201G>T
3g.9475581T>ACA351691294SETD5n.2774T>A
c.3915T>A (p.Ser1305Arg)
n.4808T>A
n.2199T>A
n.6616T>A
n.6061T>A
c.3819T>A (p.Ser1273Arg)
c.*3965T>A (n.*3965T>A)
c.*3888T>A (n.*3888T>A)
c.*4193T>A (n.*4193T>A)
c.*3924T>A (n.*3924T>A)
c.3525T>A (p.Ser1175Arg)
c.2722+425T>A
c.3876T>A (p.Ser1292Arg)
c.2855T>A
n.950T>A
n.3160T>A
n.206T>A
n.3983T>A
c.3993T>A (p.Ser1331Arg)
c.3972T>A (p.Ser1324Arg)
c.3954T>A (p.Ser1318Arg)
c.3936T>A (p.Ser1312Arg)
c.3897T>A (p.Ser1299Arg)
c.3858T>A (p.Ser1286Arg)
c.3582T>A (p.Ser1194Arg)
c.3543T>A (p.Ser1181Arg)
c.3933T>A (p.Ser1311Arg)
c.3840T>A (p.Ser1280Arg)
c.3315T>A (p.Ser1105Arg)
c.3630T>A (p.Ser1210Arg)
n.8202T>A
3g.9475581T>CCA2239805SETD5n.2774T>C
c.3915T>C (p.Ser1305=)
n.4808T>C
n.2199T>C
n.6616T>C
n.6061T>C
c.3819T>C (p.Ser1273=)
c.*3965T>C (n.*3965T>C)
c.*3888T>C (n.*3888T>C)
c.*4193T>C (n.*4193T>C)
c.*3924T>C (n.*3924T>C)
c.3525T>C (p.Ser1175=)
c.2722+425T>C
c.3876T>C (p.Ser1292=)
c.2855T>C
n.950T>C
n.3160T>C
n.206T>C
n.3983T>C
c.3993T>C (p.Ser1331=)
c.3972T>C (p.Ser1324=)
c.3954T>C (p.Ser1318=)
c.3936T>C (p.Ser1312=)
c.3897T>C (p.Ser1299=)
c.3858T>C (p.Ser1286=)
c.3582T>C (p.Ser1194=)
c.3543T>C (p.Ser1181=)
c.3933T>C (p.Ser1311=)
c.3840T>C (p.Ser1280=)
c.3315T>C (p.Ser1105=)
c.3630T>C (p.Ser1210=)
n.8202T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475581T>GCA351691304SETD5n.2774T>G
c.3915T>G (p.Ser1305Arg)
n.4808T>G
n.2199T>G
n.6616T>G
n.6061T>G
c.3819T>G (p.Ser1273Arg)
c.*3965T>G (n.*3965T>G)
c.*3888T>G (n.*3888T>G)
c.*4193T>G (n.*4193T>G)
c.*3924T>G (n.*3924T>G)
c.3525T>G (p.Ser1175Arg)
c.2722+425T>G
c.3876T>G (p.Ser1292Arg)
c.2855T>G
n.950T>G
n.3160T>G
n.206T>G
n.3983T>G
c.3993T>G (p.Ser1331Arg)
c.3972T>G (p.Ser1324Arg)
c.3954T>G (p.Ser1318Arg)
c.3936T>G (p.Ser1312Arg)
c.3897T>G (p.Ser1299Arg)
c.3858T>G (p.Ser1286Arg)
c.3582T>G (p.Ser1194Arg)
c.3543T>G (p.Ser1181Arg)
c.3933T>G (p.Ser1311Arg)
c.3840T>G (p.Ser1280Arg)
c.3315T>G (p.Ser1105Arg)
c.3630T>G (p.Ser1210Arg)
n.8202T>G
3g.9475581T=CA1344742443SETD5n.2774T=
c.3915T= (p.Ser1305=)
n.4808T=
n.2199T=
n.6616T=
n.6061T=
c.3819T= (p.Ser1273=)
c.*3965T= (n.*3965T=)
c.*3888T= (n.*3888T=)
c.*4193T= (n.*4193T=)
c.*3924T= (n.*3924T=)
c.3525T= (p.Ser1175=)
c.2722+425T=
c.3876T= (p.Ser1292=)
c.2855T=
n.950T=
n.3160T=
n.206T=
n.3983T=
c.3993T= (p.Ser1331=)
c.3972T= (p.Ser1324=)
c.3954T= (p.Ser1318=)
c.3936T= (p.Ser1312=)
c.3897T= (p.Ser1299=)
c.3858T= (p.Ser1286=)
c.3582T= (p.Ser1194=)
c.3543T= (p.Ser1181=)
c.3933T= (p.Ser1311=)
c.3840T= (p.Ser1280=)
c.3315T= (p.Ser1105=)
c.3630T= (p.Ser1210=)
n.8202T=
3g.9475582T>ACA351691309SETD5n.2775T>A
c.3916T>A (p.Tyr1306Asn)
n.4809T>A
n.2200T>A
n.6617T>A
n.6062T>A
c.3820T>A (p.Tyr1274Asn)
c.*3966T>A (n.*3966T>A)
c.*3889T>A (n.*3889T>A)
c.*4194T>A (n.*4194T>A)
c.*3925T>A (n.*3925T>A)
c.3526T>A (p.Tyr1176Asn)
c.2722+426T>A
c.3877T>A (p.Tyr1293Asn)
c.2856T>A
n.951T>A
n.3161T>A
n.207T>A
n.3984T>A
c.3994T>A (p.Tyr1332Asn)
c.3973T>A (p.Tyr1325Asn)
c.3955T>A (p.Tyr1319Asn)
c.3937T>A (p.Tyr1313Asn)
c.3898T>A (p.Tyr1300Asn)
c.3859T>A (p.Tyr1287Asn)
c.3583T>A (p.Tyr1195Asn)
c.3544T>A (p.Tyr1182Asn)
c.3934T>A (p.Tyr1312Asn)
c.3841T>A (p.Tyr1281Asn)
c.3316T>A (p.Tyr1106Asn)
c.3631T>A (p.Tyr1211Asn)
n.8203T>A
3g.9475582T>CCA351691312SETD5n.2775T>C
c.3916T>C (p.Tyr1306His)
n.4809T>C
n.2200T>C
n.6617T>C
n.6062T>C
c.3820T>C (p.Tyr1274His)
c.*3966T>C (n.*3966T>C)
c.*3889T>C (n.*3889T>C)
c.*4194T>C (n.*4194T>C)
c.*3925T>C (n.*3925T>C)
c.3526T>C (p.Tyr1176His)
c.2722+426T>C
c.3877T>C (p.Tyr1293His)
c.2856T>C
n.951T>C
n.3161T>C
n.207T>C
n.3984T>C
c.3994T>C (p.Tyr1332His)
c.3973T>C (p.Tyr1325His)
c.3955T>C (p.Tyr1319His)
c.3937T>C (p.Tyr1313His)
c.3898T>C (p.Tyr1300His)
c.3859T>C (p.Tyr1287His)
c.3583T>C (p.Tyr1195His)
c.3544T>C (p.Tyr1182His)
c.3934T>C (p.Tyr1312His)
c.3841T>C (p.Tyr1281His)
c.3316T>C (p.Tyr1106His)
c.3631T>C (p.Tyr1211His)
n.8203T>C
3g.9475582T>GCA351691308SETD5n.2775T>G
c.3916T>G (p.Tyr1306Asp)
n.4809T>G
n.2200T>G
n.6617T>G
n.6062T>G
c.3820T>G (p.Tyr1274Asp)
c.*3966T>G (n.*3966T>G)
c.*3889T>G (n.*3889T>G)
c.*4194T>G (n.*4194T>G)
c.*3925T>G (n.*3925T>G)
c.3526T>G (p.Tyr1176Asp)
c.2722+426T>G
c.3877T>G (p.Tyr1293Asp)
c.2856T>G
n.951T>G
n.3161T>G
n.207T>G
n.3984T>G
c.3994T>G (p.Tyr1332Asp)
c.3973T>G (p.Tyr1325Asp)
c.3955T>G (p.Tyr1319Asp)
c.3937T>G (p.Tyr1313Asp)
c.3898T>G (p.Tyr1300Asp)
c.3859T>G (p.Tyr1287Asp)
c.3583T>G (p.Tyr1195Asp)
c.3544T>G (p.Tyr1182Asp)
c.3934T>G (p.Tyr1312Asp)
c.3841T>G (p.Tyr1281Asp)
c.3316T>G (p.Tyr1106Asp)
c.3631T>G (p.Tyr1211Asp)
n.8203T>G
3g.9475583A=CA1344742446SETD5n.2776A=
c.3917A= (p.Tyr1306=)
n.4810A=
n.2201A=
n.6618A=
n.6063A=
c.3821A= (p.Tyr1274=)
c.*3967A= (n.*3967A=)
c.*3890A= (n.*3890A=)
c.*4195A= (n.*4195A=)
c.*3926A= (n.*3926A=)
c.3527A= (p.Tyr1176=)
c.2722+427A=
c.3878A= (p.Tyr1293=)
c.2857A=
n.952A=
n.3162A=
n.208A=
n.3985A=
c.3995A= (p.Tyr1332=)
c.3974A= (p.Tyr1325=)
c.3956A= (p.Tyr1319=)
c.3938A= (p.Tyr1313=)
c.3899A= (p.Tyr1300=)
c.3860A= (p.Tyr1287=)
c.3584A= (p.Tyr1195=)
c.3545A= (p.Tyr1182=)
c.3935A= (p.Tyr1312=)
c.3842A= (p.Tyr1281=)
c.3317A= (p.Tyr1106=)
c.3632A= (p.Tyr1211=)
n.8204A=
3g.9475583A>CCA351691322SETD5n.2776A>C
c.3917A>C (p.Tyr1306Ser)
n.4810A>C
n.2201A>C
n.6618A>C
n.6063A>C
c.3821A>C (p.Tyr1274Ser)
c.*3967A>C (n.*3967A>C)
c.*3890A>C (n.*3890A>C)
c.*4195A>C (n.*4195A>C)
c.*3926A>C (n.*3926A>C)
c.3527A>C (p.Tyr1176Ser)
c.2722+427A>C
c.3878A>C (p.Tyr1293Ser)
c.2857A>C
n.952A>C
n.3162A>C
n.208A>C
n.3985A>C
c.3995A>C (p.Tyr1332Ser)
c.3974A>C (p.Tyr1325Ser)
c.3956A>C (p.Tyr1319Ser)
c.3938A>C (p.Tyr1313Ser)
c.3899A>C (p.Tyr1300Ser)
c.3860A>C (p.Tyr1287Ser)
c.3584A>C (p.Tyr1195Ser)
c.3545A>C (p.Tyr1182Ser)
c.3935A>C (p.Tyr1312Ser)
c.3842A>C (p.Tyr1281Ser)
c.3317A>C (p.Tyr1106Ser)
c.3632A>C (p.Tyr1211Ser)
n.8204A>C
3g.9475583A>GCA2239806SETD5n.2776A>G
c.3917A>G (p.Tyr1306Cys)
n.4810A>G
n.2201A>G
n.6618A>G
n.6063A>G
c.3821A>G (p.Tyr1274Cys)
c.*3967A>G (n.*3967A>G)
c.*3890A>G (n.*3890A>G)
c.*4195A>G (n.*4195A>G)
c.*3926A>G (n.*3926A>G)
c.3527A>G (p.Tyr1176Cys)
c.2722+427A>G
c.3878A>G (p.Tyr1293Cys)
c.2857A>G
n.952A>G
n.3162A>G
n.208A>G
n.3985A>G
c.3995A>G (p.Tyr1332Cys)
c.3974A>G (p.Tyr1325Cys)
c.3956A>G (p.Tyr1319Cys)
c.3938A>G (p.Tyr1313Cys)
c.3899A>G (p.Tyr1300Cys)
c.3860A>G (p.Tyr1287Cys)
c.3584A>G (p.Tyr1195Cys)
c.3545A>G (p.Tyr1182Cys)
c.3935A>G (p.Tyr1312Cys)
c.3842A>G (p.Tyr1281Cys)
c.3317A>G (p.Tyr1106Cys)
c.3632A>G (p.Tyr1211Cys)
n.8204A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475583A>TCA351691324SETD5n.2776A>T
c.3917A>T (p.Tyr1306Phe)
n.4810A>T
n.2201A>T
n.6618A>T
n.6063A>T
c.3821A>T (p.Tyr1274Phe)
c.*3967A>T (n.*3967A>T)
c.*3890A>T (n.*3890A>T)
c.*4195A>T (n.*4195A>T)
c.*3926A>T (n.*3926A>T)
c.3527A>T (p.Tyr1176Phe)
c.2722+427A>T
c.3878A>T (p.Tyr1293Phe)
c.2857A>T
n.952A>T
n.3162A>T
n.208A>T
n.3985A>T
c.3995A>T (p.Tyr1332Phe)
c.3974A>T (p.Tyr1325Phe)
c.3956A>T (p.Tyr1319Phe)
c.3938A>T (p.Tyr1313Phe)
c.3899A>T (p.Tyr1300Phe)
c.3860A>T (p.Tyr1287Phe)
c.3584A>T (p.Tyr1195Phe)
c.3545A>T (p.Tyr1182Phe)
c.3935A>T (p.Tyr1312Phe)
c.3842A>T (p.Tyr1281Phe)
c.3317A>T (p.Tyr1106Phe)
c.3632A>T (p.Tyr1211Phe)
n.8204A>T
3g.9475584T>ACA351691326SETD5n.2777T>A
c.3918T>A (p.Tyr1306Ter)
n.4811T>A
n.2202T>A
n.6619T>A
n.6064T>A
c.3822T>A (p.Tyr1274Ter)
c.*3968T>A (n.*3968T>A)
c.*3891T>A (n.*3891T>A)
c.*4196T>A (n.*4196T>A)
c.*3927T>A (n.*3927T>A)
c.3528T>A (p.Tyr1176Ter)
c.2722+428T>A
c.3879T>A (p.Tyr1293Ter)
c.2858T>A
n.953T>A
n.3163T>A
n.209T>A
n.3986T>A
c.3996T>A (p.Tyr1332Ter)
c.3975T>A (p.Tyr1325Ter)
c.3957T>A (p.Tyr1319Ter)
c.3939T>A (p.Tyr1313Ter)
c.3900T>A (p.Tyr1300Ter)
c.3861T>A (p.Tyr1287Ter)
c.3585T>A (p.Tyr1195Ter)
c.3546T>A (p.Tyr1182Ter)
c.3936T>A (p.Tyr1312Ter)
c.3843T>A (p.Tyr1281Ter)
c.3318T>A (p.Tyr1106Ter)
c.3633T>A (p.Tyr1211Ter)
n.8205T>A
3g.9475584T>CCA2239807SETD5n.2777T>C
c.3918T>C (p.Tyr1306=)
n.4811T>C
n.2202T>C
n.6619T>C
n.6064T>C
c.3822T>C (p.Tyr1274=)
c.*3968T>C (n.*3968T>C)
c.*3891T>C (n.*3891T>C)
c.*4196T>C (n.*4196T>C)
c.*3927T>C (n.*3927T>C)
c.3528T>C (p.Tyr1176=)
c.2722+428T>C
c.3879T>C (p.Tyr1293=)
c.2858T>C
n.953T>C
n.3163T>C
n.209T>C
n.3986T>C
c.3996T>C (p.Tyr1332=)
c.3975T>C (p.Tyr1325=)
c.3957T>C (p.Tyr1319=)
c.3939T>C (p.Tyr1313=)
c.3900T>C (p.Tyr1300=)
c.3861T>C (p.Tyr1287=)
c.3585T>C (p.Tyr1195=)
c.3546T>C (p.Tyr1182=)
c.3936T>C (p.Tyr1312=)
c.3843T>C (p.Tyr1281=)
c.3318T>C (p.Tyr1106=)
c.3633T>C (p.Tyr1211=)
n.8205T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.9475584T>GCA351691329SETD5n.2777T>G
c.3918T>G (p.Tyr1306Ter)
n.4811T>G
n.2202T>G
n.6619T>G
n.6064T>G
c.3822T>G (p.Tyr1274Ter)
c.*3968T>G (n.*3968T>G)
c.*3891T>G (n.*3891T>G)
c.*4196T>G (n.*4196T>G)
c.*3927T>G (n.*3927T>G)
c.3528T>G (p.Tyr1176Ter)
c.2722+428T>G
c.3879T>G (p.Tyr1293Ter)
c.2858T>G
n.953T>G
n.3163T>G
n.209T>G
n.3986T>G
c.3996T>G (p.Tyr1332Ter)
c.3975T>G (p.Tyr1325Ter)
c.3957T>G (p.Tyr1319Ter)
c.3939T>G (p.Tyr1313Ter)
c.3900T>G (p.Tyr1300Ter)
c.3861T>G (p.Tyr1287Ter)
c.3585T>G (p.Tyr1195Ter)
c.3546T>G (p.Tyr1182Ter)
c.3936T>G (p.Tyr1312Ter)
c.3843T>G (p.Tyr1281Ter)
c.3318T>G (p.Tyr1106Ter)
c.3633T>G (p.Tyr1211Ter)
n.8205T>G
3g.9475584T=CA1344742449SETD5n.2777T=
c.3918T= (p.Tyr1306=)
n.4811T=
n.2202T=
n.6619T=
n.6064T=
c.3822T= (p.Tyr1274=)
c.*3968T= (n.*3968T=)
c.*3891T= (n.*3891T=)
c.*4196T= (n.*4196T=)
c.*3927T= (n.*3927T=)
c.3528T= (p.Tyr1176=)
c.2722+428T=
c.3879T= (p.Tyr1293=)
c.2858T=
n.953T=
n.3163T=
n.209T=
n.3986T=
c.3996T= (p.Tyr1332=)
c.3975T= (p.Tyr1325=)
c.3957T= (p.Tyr1319=)
c.3939T= (p.Tyr1313=)
c.3900T= (p.Tyr1300=)
c.3861T= (p.Tyr1287=)
c.3585T= (p.Tyr1195=)
c.3546T= (p.Tyr1182=)
c.3936T= (p.Tyr1312=)
c.3843T= (p.Tyr1281=)
c.3318T= (p.Tyr1106=)
c.3633T= (p.Tyr1211=)
n.8205T=
3g.9475585C>ACA2239808SETD5n.2778C>A
c.3919C>A (p.Arg1307=)
n.4812C>A
n.2203C>A
n.6620C>A
n.6065C>A
c.3823C>A (p.Arg1275=)
c.*3969C>A (n.*3969C>A)
c.*3892C>A (n.*3892C>A)
c.*4197C>A (n.*4197C>A)
c.*3928C>A (n.*3928C>A)
c.3529C>A (p.Arg1177=)
c.2722+429C>A
c.3880C>A (p.Arg1294=)
c.2859C>A
n.954C>A
n.3164C>A
n.210C>A
n.3987C>A
c.3997C>A (p.Arg1333=)
c.3976C>A (p.Arg1326=)
c.3958C>A (p.Arg1320=)
c.3940C>A (p.Arg1314=)
c.3901C>A (p.Arg1301=)
c.3862C>A (p.Arg1288=)
c.3586C>A (p.Arg1196=)
c.3547C>A (p.Arg1183=)
c.3937C>A (p.Arg1313=)
c.3844C>A (p.Arg1282=)
c.3319C>A (p.Arg1107=)
c.3634C>A (p.Arg1212=)
n.8206C>A
 dbSNP ExAC gnomAD v2
3g.9475585C=CA1344742452SETD5n.2778C=
c.3919C= (p.Arg1307=)
n.4812C=
n.2203C=
n.6620C=
n.6065C=
c.3823C= (p.Arg1275=)
c.*3969C= (n.*3969C=)
c.*3892C= (n.*3892C=)
c.*4197C= (n.*4197C=)
c.*3928C= (n.*3928C=)
c.3529C= (p.Arg1177=)
c.2722+429C=
c.3880C= (p.Arg1294=)
c.2859C=
n.954C=
n.3164C=
n.210C=
n.3987C=
c.3997C= (p.Arg1333=)
c.3976C= (p.Arg1326=)
c.3958C= (p.Arg1320=)
c.3940C= (p.Arg1314=)
c.3901C= (p.Arg1301=)
c.3862C= (p.Arg1288=)
c.3586C= (p.Arg1196=)
c.3547C= (p.Arg1183=)
c.3937C= (p.Arg1313=)
c.3844C= (p.Arg1282=)
c.3319C= (p.Arg1107=)
c.3634C= (p.Arg1212=)
n.8206C=
3g.9475585C>GCA351691333SETD5n.2778C>G
c.3919C>G (p.Arg1307Gly)
n.4812C>G
n.2203C>G
n.6620C>G
n.6065C>G
c.3823C>G (p.Arg1275Gly)
c.*3969C>G (n.*3969C>G)
c.*3892C>G (n.*3892C>G)
c.*4197C>G (n.*4197C>G)
c.*3928C>G (n.*3928C>G)
c.3529C>G (p.Arg1177Gly)
c.2722+429C>G
c.3880C>G (p.Arg1294Gly)
c.2859C>G
n.954C>G
n.3164C>G
n.210C>G
n.3987C>G
c.3997C>G (p.Arg1333Gly)
c.3976C>G (p.Arg1326Gly)
c.3958C>G (p.Arg1320Gly)
c.3940C>G (p.Arg1314Gly)
c.3901C>G (p.Arg1301Gly)
c.3862C>G (p.Arg1288Gly)
c.3586C>G (p.Arg1196Gly)
c.3547C>G (p.Arg1183Gly)
c.3937C>G (p.Arg1313Gly)
c.3844C>G (p.Arg1282Gly)
c.3319C>G (p.Arg1107Gly)
c.3634C>G (p.Arg1212Gly)
n.8206C>G
 gnomAD v4
3g.9475585C>TCA351691334SETD5n.2778C>T
c.3919C>T (p.Arg1307Ter)
n.4812C>T
n.2203C>T
n.6620C>T
n.6065C>T
c.3823C>T (p.Arg1275Ter)
c.*3969C>T (n.*3969C>T)
c.*3892C>T (n.*3892C>T)
c.*4197C>T (n.*4197C>T)
c.*3928C>T (n.*3928C>T)
c.3529C>T (p.Arg1177Ter)
c.2722+429C>T
c.3880C>T (p.Arg1294Ter)
c.2859C>T
n.954C>T
n.3164C>T
n.210C>T
n.3987C>T
c.3997C>T (p.Arg1333Ter)
c.3976C>T (p.Arg1326Ter)
c.3958C>T (p.Arg1320Ter)
c.3940C>T (p.Arg1314Ter)
c.3901C>T (p.Arg1301Ter)
c.3862C>T (p.Arg1288Ter)
c.3586C>T (p.Arg1196Ter)
c.3547C>T (p.Arg1183Ter)
c.3937C>T (p.Arg1313Ter)
c.3844C>T (p.Arg1282Ter)
c.3319C>T (p.Arg1107Ter)
c.3634C>T (p.Arg1212Ter)
n.8206C>T
 gnomAD v4
3g.9475586G>ACA351691337SETD5n.2779G>A
c.3920G>A (p.Arg1307Gln)
n.4813G>A
n.2204G>A
n.6621G>A
n.6066G>A
c.3824G>A (p.Arg1275Gln)
c.*3970G>A (n.*3970G>A)
c.*3893G>A (n.*3893G>A)
c.*4198G>A (n.*4198G>A)
c.*3929G>A (n.*3929G>A)
c.3530G>A (p.Arg1177Gln)
c.2722+430G>A
c.3881G>A (p.Arg1294Gln)
c.2860G>A
n.955G>A
n.3165G>A
n.211G>A
n.3988G>A
c.3998G>A (p.Arg1333Gln)
c.3977G>A (p.Arg1326Gln)
c.3959G>A (p.Arg1320Gln)
c.3941G>A (p.Arg1314Gln)
c.3902G>A (p.Arg1301Gln)
c.3863G>A (p.Arg1288Gln)
c.3587G>A (p.Arg1196Gln)
c.3548G>A (p.Arg1183Gln)
c.3938G>A (p.Arg1313Gln)
c.3845G>A (p.Arg1282Gln)
c.3320G>A (p.Arg1107Gln)
c.3635G>A (p.Arg1212Gln)
n.8207G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.9475586G>CCA351691339SETD5n.2779G>C
c.3920G>C (p.Arg1307Pro)
n.4813G>C
n.2204G>C
n.6621G>C
n.6066G>C
c.3824G>C (p.Arg1275Pro)
c.*3970G>C (n.*3970G>C)
c.*3893G>C (n.*3893G>C)
c.*4198G>C (n.*4198G>C)
c.*3929G>C (n.*3929G>C)
c.3530G>C (p.Arg1177Pro)
c.2722+430G>C
c.3881G>C (p.Arg1294Pro)
c.2860G>C
n.955G>C
n.3165G>C
n.211G>C
n.3988G>C
c.3998G>C (p.Arg1333Pro)
c.3977G>C (p.Arg1326Pro)
c.3959G>C (p.Arg1320Pro)
c.3941G>C (p.Arg1314Pro)
c.3902G>C (p.Arg1301Pro)
c.3863G>C (p.Arg1288Pro)
c.3587G>C (p.Arg1196Pro)
c.3548G>C (p.Arg1183Pro)
c.3938G>C (p.Arg1313Pro)
c.3845G>C (p.Arg1282Pro)
c.3320G>C (p.Arg1107Pro)
c.3635G>C (p.Arg1212Pro)
n.8207G>C
3g.9475586G=CA1344742455SETD5n.2779G=
c.3920G= (p.Arg1307=)
n.4813G=
n.2204G=
n.6621G=
n.6066G=
c.3824G= (p.Arg1275=)
c.*3970G= (n.*3970G=)
c.*3893G= (n.*3893G=)
c.*4198G= (n.*4198G=)
c.*3929G= (n.*3929G=)
c.3530G= (p.Arg1177=)
c.2722+430G=
c.3881G= (p.Arg1294=)
c.2860G=
n.955G=
n.3165G=
n.211G=
n.3988G=
c.3998G= (p.Arg1333=)
c.3977G= (p.Arg1326=)
c.3959G= (p.Arg1320=)
c.3941G= (p.Arg1314=)
c.3902G= (p.Arg1301=)
c.3863G= (p.Arg1288=)
c.3587G= (p.Arg1196=)
c.3548G= (p.Arg1183=)
c.3938G= (p.Arg1313=)
c.3845G= (p.Arg1282=)
c.3320G= (p.Arg1107=)
c.3635G= (p.Arg1212=)
n.8207G=
3g.9475586G>TCA351691340SETD5n.2779G>T
c.3920G>T (p.Arg1307Leu)
n.4813G>T
n.2204G>T
n.6621G>T
n.6066G>T
c.3824G>T (p.Arg1275Leu)
c.*3970G>T (n.*3970G>T)
c.*3893G>T (n.*3893G>T)
c.*4198G>T (n.*4198G>T)
c.*3929G>T (n.*3929G>T)
c.3530G>T (p.Arg1177Leu)
c.2722+430G>T
c.3881G>T (p.Arg1294Leu)
c.2860G>T
n.955G>T
n.3165G>T
n.211G>T
n.3988G>T
c.3998G>T (p.Arg1333Leu)
c.3977G>T (p.Arg1326Leu)
c.3959G>T (p.Arg1320Leu)
c.3941G>T (p.Arg1314Leu)
c.3902G>T (p.Arg1301Leu)
c.3863G>T (p.Arg1288Leu)
c.3587G>T (p.Arg1196Leu)
c.3548G>T (p.Arg1183Leu)
c.3938G>T (p.Arg1313Leu)
c.3845G>T (p.Arg1282Leu)
c.3320G>T (p.Arg1107Leu)
c.3635G>T (p.Arg1212Leu)
n.8207G>T
 gnomAD v4
3g.9475587A>CCA432528557SETD5n.2780A>C
c.3921A>C (p.Arg1307=)
n.4814A>C
n.2205A>C
n.6622A>C
n.6067A>C
c.3825A>C (p.Arg1275=)
c.*3971A>C (n.*3971A>C)
c.*3894A>C (n.*3894A>C)
c.*4199A>C (n.*4199A>C)
c.*3930A>C (n.*3930A>C)
c.3531A>C (p.Arg1177=)
c.2722+431A>C
c.3882A>C (p.Arg1294=)
c.2861A>C
n.956A>C
n.3166A>C
n.212A>C
n.3989A>C
c.3999A>C (p.Arg1333=)
c.3978A>C (p.Arg1326=)
c.3960A>C (p.Arg1320=)
c.3942A>C (p.Arg1314=)
c.3903A>C (p.Arg1301=)
c.3864A>C (p.Arg1288=)
c.3588A>C (p.Arg1196=)
c.3549A>C (p.Arg1183=)
c.3939A>C (p.Arg1313=)
c.3846A>C (p.Arg1282=)
c.3321A>C (p.Arg1107=)
c.3636A>C (p.Arg1212=)
n.8208A>C
3g.9475587A>GCA432528559SETD5n.2780A>G
c.3921A>G (p.Arg1307=)
n.4814A>G
n.2205A>G
n.6622A>G
n.6067A>G
c.3825A>G (p.Arg1275=)
c.*3971A>G (n.*3971A>G)
c.*3894A>G (n.*3894A>G)
c.*4199A>G (n.*4199A>G)
c.*3930A>G (n.*3930A>G)
c.3531A>G (p.Arg1177=)
c.2722+431A>G
c.3882A>G (p.Arg1294=)
c.2861A>G
n.956A>G
n.3166A>G
n.212A>G
n.3989A>G
c.3999A>G (p.Arg1333=)
c.3978A>G (p.Arg1326=)
c.3960A>G (p.Arg1320=)
c.3942A>G (p.Arg1314=)
c.3903A>G (p.Arg1301=)
c.3864A>G (p.Arg1288=)
c.3588A>G (p.Arg1196=)
c.3549A>G (p.Arg1183=)
c.3939A>G (p.Arg1313=)
c.3846A>G (p.Arg1282=)
c.3321A>G (p.Arg1107=)
c.3636A>G (p.Arg1212=)
n.8208A>G
3g.9475587A>TCA432528560SETD5n.2780A>T
c.3921A>T (p.Arg1307=)
n.4814A>T
n.2205A>T
n.6622A>T
n.6067A>T
c.3825A>T (p.Arg1275=)
c.*3971A>T (n.*3971A>T)
c.*3894A>T (n.*3894A>T)
c.*4199A>T (n.*4199A>T)
c.*3930A>T (n.*3930A>T)
c.3531A>T (p.Arg1177=)
c.2722+431A>T
c.3882A>T (p.Arg1294=)
c.2861A>T
n.956A>T
n.3166A>T
n.212A>T
n.3989A>T
c.3999A>T (p.Arg1333=)
c.3978A>T (p.Arg1326=)
c.3960A>T (p.Arg1320=)
c.3942A>T (p.Arg1314=)
c.3903A>T (p.Arg1301=)
c.3864A>T (p.Arg1288=)
c.3588A>T (p.Arg1196=)
c.3549A>T (p.Arg1183=)
c.3939A>T (p.Arg1313=)
c.3846A>T (p.Arg1282=)
c.3321A>T (p.Arg1107=)
c.3636A>T (p.Arg1212=)
n.8208A>T
3g.9475588A>CCA351691349SETD5n.2781A>C
c.3922A>C (p.Thr1308Pro)
n.4815A>C
n.2206A>C
n.6623A>C
n.6068A>C
c.3826A>C (p.Thr1276Pro)
c.*3972A>C (n.*3972A>C)
c.*3895A>C (n.*3895A>C)
c.*4200A>C (n.*4200A>C)
c.*3931A>C (n.*3931A>C)
c.3532A>C (p.Thr1178Pro)
c.2722+432A>C
c.3883A>C (p.Thr1295Pro)
c.2862A>C
n.957A>C
n.3167A>C
n.213A>C
n.3990A>C
c.4000A>C (p.Thr1334Pro)
c.3979A>C (p.Thr1327Pro)
c.3961A>C (p.Thr1321Pro)
c.3943A>C (p.Thr1315Pro)
c.3904A>C (p.Thr1302Pro)
c.3865A>C (p.Thr1289Pro)
c.3589A>C (p.Thr1197Pro)
c.3550A>C (p.Thr1184Pro)
c.3940A>C (p.Thr1314Pro)
c.3847A>C (p.Thr1283Pro)
c.3322A>C (p.Thr1108Pro)
c.3637A>C (p.Thr1213Pro)
n.8209A>C
3g.9475588A>GCA351691342SETD5n.2781A>G
c.3922A>G (p.Thr1308Ala)
n.4815A>G
n.2206A>G
n.6623A>G
n.6068A>G
c.3826A>G (p.Thr1276Ala)
c.*3972A>G (n.*3972A>G)
c.*3895A>G (n.*3895A>G)
c.*4200A>G (n.*4200A>G)
c.*3931A>G (n.*3931A>G)
c.3532A>G (p.Thr1178Ala)
c.2722+432A>G
c.3883A>G (p.Thr1295Ala)
c.2862A>G
n.957A>G
n.3167A>G
n.213A>G
n.3990A>G
c.4000A>G (p.Thr1334Ala)
c.3979A>G (p.Thr1327Ala)
c.3961A>G (p.Thr1321Ala)
c.3943A>G (p.Thr1315Ala)
c.3904A>G (p.Thr1302Ala)
c.3865A>G (p.Thr1289Ala)
c.3589A>G (p.Thr1197Ala)
c.3550A>G (p.Thr1184Ala)
c.3940A>G (p.Thr1314Ala)
c.3847A>G (p.Thr1283Ala)
c.3322A>G (p.Thr1108Ala)
c.3637A>G (p.Thr1213Ala)
n.8209A>G
 gnomAD v4
3g.9475588A>TCA351691348SETD5n.2781A>T
c.3922A>T (p.Thr1308Ser)
n.4815A>T
n.2206A>T
n.6623A>T
n.6068A>T
c.3826A>T (p.Thr1276Ser)
c.*3972A>T (n.*3972A>T)
c.*3895A>T (n.*3895A>T)
c.*4200A>T (n.*4200A>T)
c.*3931A>T (n.*3931A>T)
c.3532A>T (p.Thr1178Ser)
c.2722+432A>T
c.3883A>T (p.Thr1295Ser)
c.2862A>T
n.957A>T
n.3167A>T
n.213A>T
n.3990A>T
c.4000A>T (p.Thr1334Ser)
c.3979A>T (p.Thr1327Ser)
c.3961A>T (p.Thr1321Ser)
c.3943A>T (p.Thr1315Ser)
c.3904A>T (p.Thr1302Ser)
c.3865A>T (p.Thr1289Ser)
c.3589A>T (p.Thr1197Ser)
c.3550A>T (p.Thr1184Ser)
c.3940A>T (p.Thr1314Ser)
c.3847A>T (p.Thr1283Ser)
c.3322A>T (p.Thr1108Ser)
c.3637A>T (p.Thr1213Ser)
n.8209A>T
3g.9475589C>ACA351691351SETD5n.2782C>A
c.3923C>A (p.Thr1308Asn)
n.4816C>A
n.2207C>A
n.6624C>A
n.6069C>A
c.3827C>A (p.Thr1276Asn)
c.*3973C>A (n.*3973C>A)
c.*3896C>A (n.*3896C>A)
c.*4201C>A (n.*4201C>A)
c.*3932C>A (n.*3932C>A)
c.3533C>A (p.Thr1178Asn)
c.2722+433C>A
c.3884C>A (p.Thr1295Asn)
c.2863C>A
n.958C>A
n.3168C>A
n.214C>A
n.3991C>A
c.4001C>A (p.Thr1334Asn)
c.3980C>A (p.Thr1327Asn)
c.3962C>A (p.Thr1321Asn)
c.3944C>A (p.Thr1315Asn)
c.3905C>A (p.Thr1302Asn)
c.3866C>A (p.Thr1289Asn)
c.3590C>A (p.Thr1197Asn)
c.3551C>A (p.Thr1184Asn)
c.3941C>A (p.Thr1314Asn)
c.3848C>A (p.Thr1283Asn)
c.3323C>A (p.Thr1108Asn)
c.3638C>A (p.Thr1213Asn)
n.8210C>A
 gnomAD v4
3g.9475589C>GCA351691353SETD5n.2782C>G
c.3923C>G (p.Thr1308Ser)
n.4816C>G
n.2207C>G
n.6624C>G
n.6069C>G
c.3827C>G (p.Thr1276Ser)
c.*3973C>G (n.*3973C>G)
c.*3896C>G (n.*3896C>G)
c.*4201C>G (n.*4201C>G)
c.*3932C>G (n.*3932C>G)
c.3533C>G (p.Thr1178Ser)
c.2722+433C>G
c.3884C>G (p.Thr1295Ser)
c.2863C>G
n.958C>G
n.3168C>G
n.214C>G
n.3991C>G
c.4001C>G (p.Thr1334Ser)
c.3980C>G (p.Thr1327Ser)
c.3962C>G (p.Thr1321Ser)
c.3944C>G (p.Thr1315Ser)
c.3905C>G (p.Thr1302Ser)
c.3866C>G (p.Thr1289Ser)
c.3590C>G (p.Thr1197Ser)
c.3551C>G (p.Thr1184Ser)
c.3941C>G (p.Thr1314Ser)
c.3848C>G (p.Thr1283Ser)
c.3323C>G (p.Thr1108Ser)
c.3638C>G (p.Thr1213Ser)
n.8210C>G
3g.9475589C>TCA351691355SETD5n.2782C>T
c.3923C>T (p.Thr1308Ile)
n.4816C>T
n.2207C>T
n.6624C>T
n.6069C>T
c.3827C>T (p.Thr1276Ile)
c.*3973C>T (n.*3973C>T)
c.*3896C>T (n.*3896C>T)
c.*4201C>T (n.*4201C>T)
c.*3932C>T (n.*3932C>T)
c.3533C>T (p.Thr1178Ile)
c.2722+433C>T
c.3884C>T (p.Thr1295Ile)
c.2863C>T
n.958C>T
n.3168C>T
n.214C>T
n.3991C>T
c.4001C>T (p.Thr1334Ile)
c.3980C>T (p.Thr1327Ile)
c.3962C>T (p.Thr1321Ile)
c.3944C>T (p.Thr1315Ile)
c.3905C>T (p.Thr1302Ile)
c.3866C>T (p.Thr1289Ile)
c.3590C>T (p.Thr1197Ile)
c.3551C>T (p.Thr1184Ile)
c.3941C>T (p.Thr1314Ile)
c.3848C>T (p.Thr1283Ile)
c.3323C>T (p.Thr1108Ile)
c.3638C>T (p.Thr1213Ile)
n.8210C>T
3g.9475590T>ACA432528568SETD5n.2783T>A
c.3924T>A (p.Thr1308=)
n.4817T>A
n.2208T>A
n.6625T>A
n.6070T>A
c.3828T>A (p.Thr1276=)
c.*3974T>A (n.*3974T>A)
c.*3897T>A (n.*3897T>A)
c.*4202T>A (n.*4202T>A)
c.*3933T>A (n.*3933T>A)
c.3534T>A (p.Thr1178=)
c.2722+434T>A
c.3885T>A (p.Thr1295=)
c.2864T>A
n.959T>A
n.3169T>A
n.215T>A
n.3992T>A
c.4002T>A (p.Thr1334=)
c.3981T>A (p.Thr1327=)
c.3963T>A (p.Thr1321=)
c.3945T>A (p.Thr1315=)
c.3906T>A (p.Thr1302=)
c.3867T>A (p.Thr1289=)
c.3591T>A (p.Thr1197=)
c.3552T>A (p.Thr1184=)
c.3942T>A (p.Thr1314=)
c.3849T>A (p.Thr1283=)
c.3324T>A (p.Thr1108=)
c.3639T>A (p.Thr1213=)
n.8211T>A
3g.9475590T>CCA432528569SETD5n.2783T>C
c.3924T>C (p.Thr1308=)
n.4817T>C
n.2208T>C
n.6625T>C
n.6070T>C
c.3828T>C (p.Thr1276=)
c.*3974T>C (n.*3974T>C)
c.*3897T>C (n.*3897T>C)
c.*4202T>C (n.*4202T>C)
c.*3933T>C (n.*3933T>C)
c.3534T>C (p.Thr1178=)
c.2722+434T>C
c.3885T>C (p.Thr1295=)
c.2864T>C
n.959T>C
n.3169T>C
n.215T>C
n.3992T>C
c.4002T>C (p.Thr1334=)
c.3981T>C (p.Thr1327=)
c.3963T>C (p.Thr1321=)
c.3945T>C (p.Thr1315=)
c.3906T>C (p.Thr1302=)
c.3867T>C (p.Thr1289=)
c.3591T>C (p.Thr1197=)
c.3552T>C (p.Thr1184=)
c.3942T>C (p.Thr1314=)
c.3849T>C (p.Thr1283=)
c.3324T>C (p.Thr1108=)
c.3639T>C (p.Thr1213=)
n.8211T>C
3g.9475590T>GCA432528570SETD5n.2783T>G
c.3924T>G (p.Thr1308=)
n.4817T>G
n.2208T>G
n.6625T>G
n.6070T>G
c.3828T>G (p.Thr1276=)
c.*3974T>G (n.*3974T>G)
c.*3897T>G (n.*3897T>G)
c.*4202T>G (n.*4202T>G)
c.*3933T>G (n.*3933T>G)
c.3534T>G (p.Thr1178=)
c.2722+434T>G
c.3885T>G (p.Thr1295=)
c.2864T>G
n.959T>G
n.3169T>G
n.215T>G
n.3992T>G
c.4002T>G (p.Thr1334=)
c.3981T>G (p.Thr1327=)
c.3963T>G (p.Thr1321=)
c.3945T>G (p.Thr1315=)
c.3906T>G (p.Thr1302=)
c.3867T>G (p.Thr1289=)
c.3591T>G (p.Thr1197=)
c.3552T>G (p.Thr1184=)
c.3942T>G (p.Thr1314=)
c.3849T>G (p.Thr1283=)
c.3324T>G (p.Thr1108=)
c.3639T>G (p.Thr1213=)
n.8211T>G
3g.9475591A=CA1344742458SETD5n.2784A=
c.3925A= (p.Thr1309=)
n.4818A=
n.2209A=
n.6626A=
n.6071A=
c.3829A= (p.Thr1277=)
c.*3975A= (n.*3975A=)
c.*3898A= (n.*3898A=)
c.*4203A= (n.*4203A=)
c.*3934A= (n.*3934A=)
c.3535A= (p.Thr1179=)
c.2722+435A=
c.3886A= (p.Thr1296=)
c.2865A=
n.960A=
n.3170A=
n.216A=
n.3993A=
c.4003A= (p.Thr1335=)
c.3982A= (p.Thr1328=)
c.3964A= (p.Thr1322=)
c.3946A= (p.Thr1316=)
c.3907A= (p.Thr1303=)
c.3868A= (p.Thr1290=)
c.3592A= (p.Thr1198=)
c.3553A= (p.Thr1185=)
c.3943A= (p.Thr1315=)
c.3850A= (p.Thr1284=)
c.3325A= (p.Thr1109=)
c.3640A= (p.Thr1214=)
n.8212A=
3g.9475591A>CCA351691360SETD5n.2784A>C
c.3925A>C (p.Thr1309Pro)
n.4818A>C
n.2209A>C
n.6626A>C
n.6071A>C
c.3829A>C (p.Thr1277Pro)
c.*3975A>C (n.*3975A>C)
c.*3898A>C (n.*3898A>C)
c.*4203A>C (n.*4203A>C)
c.*3934A>C (n.*3934A>C)
c.3535A>C (p.Thr1179Pro)
c.2722+435A>C
c.3886A>C (p.Thr1296Pro)
c.2865A>C
n.960A>C
n.3170A>C
n.216A>C
n.3993A>C
c.4003A>C (p.Thr1335Pro)
c.3982A>C (p.Thr1328Pro)
c.3964A>C (p.Thr1322Pro)
c.3946A>C (p.Thr1316Pro)
c.3907A>C (p.Thr1303Pro)
c.3868A>C (p.Thr1290Pro)
c.3592A>C (p.Thr1198Pro)
c.3553A>C (p.Thr1185Pro)
c.3943A>C (p.Thr1315Pro)
c.3850A>C (p.Thr1284Pro)
c.3325A>C (p.Thr1109Pro)
c.3640A>C (p.Thr1214Pro)
n.8212A>C
3g.9475591A>GCA2239809SETD5n.2784A>G
c.3925A>G (p.Thr1309Ala)
n.4818A>G
n.2209A>G
n.6626A>G
n.6071A>G
c.3829A>G (p.Thr1277Ala)
c.*3975A>G (n.*3975A>G)
c.*3898A>G (n.*3898A>G)
c.*4203A>G (n.*4203A>G)
c.*3934A>G (n.*3934A>G)
c.3535A>G (p.Thr1179Ala)
c.2722+435A>G
c.3886A>G (p.Thr1296Ala)
c.2865A>G
n.960A>G
n.3170A>G
n.216A>G
n.3993A>G
c.4003A>G (p.Thr1335Ala)
c.3982A>G (p.Thr1328Ala)
c.3964A>G (p.Thr1322Ala)
c.3946A>G (p.Thr1316Ala)
c.3907A>G (p.Thr1303Ala)
c.3868A>G (p.Thr1290Ala)
c.3592A>G (p.Thr1198Ala)
c.3553A>G (p.Thr1185Ala)
c.3943A>G (p.Thr1315Ala)
c.3850A>G (p.Thr1284Ala)
c.3325A>G (p.Thr1109Ala)
c.3640A>G (p.Thr1214Ala)
n.8212A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475591A>TCA351691386SETD5n.2784A>T
c.3925A>T (p.Thr1309Ser)
n.4818A>T
n.2209A>T
n.6626A>T
n.6071A>T
c.3829A>T (p.Thr1277Ser)
c.*3975A>T (n.*3975A>T)
c.*3898A>T (n.*3898A>T)
c.*4203A>T (n.*4203A>T)
c.*3934A>T (n.*3934A>T)
c.3535A>T (p.Thr1179Ser)
c.2722+435A>T
c.3886A>T (p.Thr1296Ser)
c.2865A>T
n.960A>T
n.3170A>T
n.216A>T
n.3993A>T
c.4003A>T (p.Thr1335Ser)
c.3982A>T (p.Thr1328Ser)
c.3964A>T (p.Thr1322Ser)
c.3946A>T (p.Thr1316Ser)
c.3907A>T (p.Thr1303Ser)
c.3868A>T (p.Thr1290Ser)
c.3592A>T (p.Thr1198Ser)
c.3553A>T (p.Thr1185Ser)
c.3943A>T (p.Thr1315Ser)
c.3850A>T (p.Thr1284Ser)
c.3325A>T (p.Thr1109Ser)
c.3640A>T (p.Thr1214Ser)
n.8212A>T
3g.9475592C>ACA351691394SETD5n.2785C>A
c.3926C>A (p.Thr1309Asn)
n.4819C>A
n.2210C>A
n.6627C>A
n.6072C>A
c.3830C>A (p.Thr1277Asn)
c.*3976C>A (n.*3976C>A)
c.*3899C>A (n.*3899C>A)
c.*4204C>A (n.*4204C>A)
c.*3935C>A (n.*3935C>A)
c.3536C>A (p.Thr1179Asn)
c.2722+436C>A
c.3887C>A (p.Thr1296Asn)
c.2866C>A
n.961C>A
n.3171C>A
n.217C>A
n.3994C>A
c.4004C>A (p.Thr1335Asn)
c.3983C>A (p.Thr1328Asn)
c.3965C>A (p.Thr1322Asn)
c.3947C>A (p.Thr1316Asn)
c.3908C>A (p.Thr1303Asn)
c.3869C>A (p.Thr1290Asn)
c.3593C>A (p.Thr1198Asn)
c.3554C>A (p.Thr1185Asn)
c.3944C>A (p.Thr1315Asn)
c.3851C>A (p.Thr1284Asn)
c.3326C>A (p.Thr1109Asn)
c.3641C>A (p.Thr1214Asn)
n.8213C>A
3g.9475592C>GCA351691402SETD5n.2785C>G
c.3926C>G (p.Thr1309Ser)
n.4819C>G
n.2210C>G
n.6627C>G
n.6072C>G
c.3830C>G (p.Thr1277Ser)
c.*3976C>G (n.*3976C>G)
c.*3899C>G (n.*3899C>G)
c.*4204C>G (n.*4204C>G)
c.*3935C>G (n.*3935C>G)
c.3536C>G (p.Thr1179Ser)
c.2722+436C>G
c.3887C>G (p.Thr1296Ser)
c.2866C>G
n.961C>G
n.3171C>G
n.217C>G
n.3994C>G
c.4004C>G (p.Thr1335Ser)
c.3983C>G (p.Thr1328Ser)
c.3965C>G (p.Thr1322Ser)
c.3947C>G (p.Thr1316Ser)
c.3908C>G (p.Thr1303Ser)
c.3869C>G (p.Thr1290Ser)
c.3593C>G (p.Thr1198Ser)
c.3554C>G (p.Thr1185Ser)
c.3944C>G (p.Thr1315Ser)
c.3851C>G (p.Thr1284Ser)
c.3326C>G (p.Thr1109Ser)
c.3641C>G (p.Thr1214Ser)
n.8213C>G
3g.9475592C>TCA351691405SETD5n.2785C>T
c.3926C>T (p.Thr1309Ile)
n.4819C>T
n.2210C>T
n.6627C>T
n.6072C>T
c.3830C>T (p.Thr1277Ile)
c.*3976C>T (n.*3976C>T)
c.*3899C>T (n.*3899C>T)
c.*4204C>T (n.*4204C>T)
c.*3935C>T (n.*3935C>T)
c.3536C>T (p.Thr1179Ile)
c.2722+436C>T
c.3887C>T (p.Thr1296Ile)
c.2866C>T
n.961C>T
n.3171C>T
n.217C>T
n.3994C>T
c.4004C>T (p.Thr1335Ile)
c.3983C>T (p.Thr1328Ile)
c.3965C>T (p.Thr1322Ile)
c.3947C>T (p.Thr1316Ile)
c.3908C>T (p.Thr1303Ile)
c.3869C>T (p.Thr1290Ile)
c.3593C>T (p.Thr1198Ile)
c.3554C>T (p.Thr1185Ile)
c.3944C>T (p.Thr1315Ile)
c.3851C>T (p.Thr1284Ile)
c.3326C>T (p.Thr1109Ile)
c.3641C>T (p.Thr1214Ile)
n.8213C>T
3g.9475593T>ACA432528581SETD5n.2786T>A
c.3927T>A (p.Thr1309=)
n.4820T>A
n.2211T>A
n.6628T>A
n.6073T>A
c.3831T>A (p.Thr1277=)
c.*3977T>A (n.*3977T>A)
c.*3900T>A (n.*3900T>A)
c.*4205T>A (n.*4205T>A)
c.*3936T>A (n.*3936T>A)
c.3537T>A (p.Thr1179=)
c.2722+437T>A
c.3888T>A (p.Thr1296=)
c.2867T>A
n.962T>A
n.3172T>A
n.218T>A
n.3995T>A
c.4005T>A (p.Thr1335=)
c.3984T>A (p.Thr1328=)
c.3966T>A (p.Thr1322=)
c.3948T>A (p.Thr1316=)
c.3909T>A (p.Thr1303=)
c.3870T>A (p.Thr1290=)
c.3594T>A (p.Thr1198=)
c.3555T>A (p.Thr1185=)
c.3945T>A (p.Thr1315=)
c.3852T>A (p.Thr1284=)
c.3327T>A (p.Thr1109=)
c.3642T>A (p.Thr1214=)
n.8214T>A
3g.9475593T>CCA432528582SETD5n.2786T>C
c.3927T>C (p.Thr1309=)
n.4820T>C
n.2211T>C
n.6628T>C
n.6073T>C
c.3831T>C (p.Thr1277=)
c.*3977T>C (n.*3977T>C)
c.*3900T>C (n.*3900T>C)
c.*4205T>C (n.*4205T>C)
c.*3936T>C (n.*3936T>C)
c.3537T>C (p.Thr1179=)
c.2722+437T>C
c.3888T>C (p.Thr1296=)
c.2867T>C
n.962T>C
n.3172T>C
n.218T>C
n.3995T>C
c.4005T>C (p.Thr1335=)
c.3984T>C (p.Thr1328=)
c.3966T>C (p.Thr1322=)
c.3948T>C (p.Thr1316=)
c.3909T>C (p.Thr1303=)
c.3870T>C (p.Thr1290=)
c.3594T>C (p.Thr1198=)
c.3555T>C (p.Thr1185=)
c.3945T>C (p.Thr1315=)
c.3852T>C (p.Thr1284=)
c.3327T>C (p.Thr1109=)
c.3642T>C (p.Thr1214=)
n.8214T>C
3g.9475593T>GCA432528583SETD5n.2786T>G
c.3927T>G (p.Thr1309=)
n.4820T>G
n.2211T>G
n.6628T>G
n.6073T>G
c.3831T>G (p.Thr1277=)
c.*3977T>G (n.*3977T>G)
c.*3900T>G (n.*3900T>G)
c.*4205T>G (n.*4205T>G)
c.*3936T>G (n.*3936T>G)
c.3537T>G (p.Thr1179=)
c.2722+437T>G
c.3888T>G (p.Thr1296=)
c.2867T>G
n.962T>G
n.3172T>G
n.218T>G
n.3995T>G
c.4005T>G (p.Thr1335=)
c.3984T>G (p.Thr1328=)
c.3966T>G (p.Thr1322=)
c.3948T>G (p.Thr1316=)
c.3909T>G (p.Thr1303=)
c.3870T>G (p.Thr1290=)
c.3594T>G (p.Thr1198=)
c.3555T>G (p.Thr1185=)
c.3945T>G (p.Thr1315=)
c.3852T>G (p.Thr1284=)
c.3327T>G (p.Thr1109=)
c.3642T>G (p.Thr1214=)
n.8214T>G
3g.9475594G>ACA351691411SETD5n.2787G>A
c.3928G>A (p.Ala1310Thr)
n.4821G>A
n.2212G>A
n.6629G>A
n.6074G>A
c.3832G>A (p.Ala1278Thr)
c.*3978G>A (n.*3978G>A)
c.*3901G>A (n.*3901G>A)
c.*4206G>A (n.*4206G>A)
c.*3937G>A (n.*3937G>A)
c.3538G>A (p.Ala1180Thr)
c.2722+438G>A
c.3889G>A (p.Ala1297Thr)
c.2868G>A
n.963G>A
n.3173G>A
n.219G>A
n.3996G>A
c.4006G>A (p.Ala1336Thr)
c.3985G>A (p.Ala1329Thr)
c.3967G>A (p.Ala1323Thr)
c.3949G>A (p.Ala1317Thr)
c.3910G>A (p.Ala1304Thr)
c.3871G>A (p.Ala1291Thr)
c.3595G>A (p.Ala1199Thr)
c.3556G>A (p.Ala1186Thr)
c.3946G>A (p.Ala1316Thr)
c.3853G>A (p.Ala1285Thr)
c.3328G>A (p.Ala1110Thr)
c.3643G>A (p.Ala1215Thr)
n.8215G>A
3g.9475594G>CCA351691432SETD5n.2787G>C
c.3928G>C (p.Ala1310Pro)
n.4821G>C
n.2212G>C
n.6629G>C
n.6074G>C
c.3832G>C (p.Ala1278Pro)
c.*3978G>C (n.*3978G>C)
c.*3901G>C (n.*3901G>C)
c.*4206G>C (n.*4206G>C)
c.*3937G>C (n.*3937G>C)
c.3538G>C (p.Ala1180Pro)
c.2722+438G>C
c.3889G>C (p.Ala1297Pro)
c.2868G>C
n.963G>C
n.3173G>C
n.219G>C
n.3996G>C
c.4006G>C (p.Ala1336Pro)
c.3985G>C (p.Ala1329Pro)
c.3967G>C (p.Ala1323Pro)
c.3949G>C (p.Ala1317Pro)
c.3910G>C (p.Ala1304Pro)
c.3871G>C (p.Ala1291Pro)
c.3595G>C (p.Ala1199Pro)
c.3556G>C (p.Ala1186Pro)
c.3946G>C (p.Ala1316Pro)
c.3853G>C (p.Ala1285Pro)
c.3328G>C (p.Ala1110Pro)
c.3643G>C (p.Ala1215Pro)
n.8215G>C
3g.9475594G>TCA351691436SETD5n.2787G>T
c.3928G>T (p.Ala1310Ser)
n.4821G>T
n.2212G>T
n.6629G>T
n.6074G>T
c.3832G>T (p.Ala1278Ser)
c.*3978G>T (n.*3978G>T)
c.*3901G>T (n.*3901G>T)
c.*4206G>T (n.*4206G>T)
c.*3937G>T (n.*3937G>T)
c.3538G>T (p.Ala1180Ser)
c.2722+438G>T
c.3889G>T (p.Ala1297Ser)
c.2868G>T
n.963G>T
n.3173G>T
n.219G>T
n.3996G>T
c.4006G>T (p.Ala1336Ser)
c.3985G>T (p.Ala1329Ser)
c.3967G>T (p.Ala1323Ser)
c.3949G>T (p.Ala1317Ser)
c.3910G>T (p.Ala1304Ser)
c.3871G>T (p.Ala1291Ser)
c.3595G>T (p.Ala1199Ser)
c.3556G>T (p.Ala1186Ser)
c.3946G>T (p.Ala1316Ser)
c.3853G>T (p.Ala1285Ser)
c.3328G>T (p.Ala1110Ser)
c.3643G>T (p.Ala1215Ser)
n.8215G>T
3g.9475595C>ACA351691439SETD5n.2788C>A
c.3929C>A (p.Ala1310Glu)
n.4822C>A
n.2213C>A
n.6630C>A
n.6075C>A
c.3833C>A (p.Ala1278Glu)
c.*3979C>A (n.*3979C>A)
c.*3902C>A (n.*3902C>A)
c.*4207C>A (n.*4207C>A)
c.*3938C>A (n.*3938C>A)
c.3539C>A (p.Ala1180Glu)
c.2722+439C>A
c.3890C>A (p.Ala1297Glu)
c.2869C>A
n.964C>A
n.3174C>A
n.220C>A
n.3997C>A
c.4007C>A (p.Ala1336Glu)
c.3986C>A (p.Ala1329Glu)
c.3968C>A (p.Ala1323Glu)
c.3950C>A (p.Ala1317Glu)
c.3911C>A (p.Ala1304Glu)
c.3872C>A (p.Ala1291Glu)
c.3596C>A (p.Ala1199Glu)
c.3557C>A (p.Ala1186Glu)
c.3947C>A (p.Ala1316Glu)
c.3854C>A (p.Ala1285Glu)
c.3329C>A (p.Ala1110Glu)
c.3644C>A (p.Ala1215Glu)
n.8216C>A
3g.9475595C=CA1344742460SETD5n.2788C=
c.3929C= (p.Ala1310=)
n.4822C=
n.2213C=
n.6630C=
n.6075C=
c.3833C= (p.Ala1278=)
c.*3979C= (n.*3979C=)
c.*3902C= (n.*3902C=)
c.*4207C= (n.*4207C=)
c.*3938C= (n.*3938C=)
c.3539C= (p.Ala1180=)
c.2722+439C=
c.3890C= (p.Ala1297=)
c.2869C=
n.964C=
n.3174C=
n.220C=
n.3997C=
c.4007C= (p.Ala1336=)
c.3986C= (p.Ala1329=)
c.3968C= (p.Ala1323=)
c.3950C= (p.Ala1317=)
c.3911C= (p.Ala1304=)
c.3872C= (p.Ala1291=)
c.3596C= (p.Ala1199=)
c.3557C= (p.Ala1186=)
c.3947C= (p.Ala1316=)
c.3854C= (p.Ala1285=)
c.3329C= (p.Ala1110=)
c.3644C= (p.Ala1215=)
n.8216C=
3g.9475595C>GCA351691441SETD5n.2788C>G
c.3929C>G (p.Ala1310Gly)
n.4822C>G
n.2213C>G
n.6630C>G
n.6075C>G
c.3833C>G (p.Ala1278Gly)
c.*3979C>G (n.*3979C>G)
c.*3902C>G (n.*3902C>G)
c.*4207C>G (n.*4207C>G)
c.*3938C>G (n.*3938C>G)
c.3539C>G (p.Ala1180Gly)
c.2722+439C>G
c.3890C>G (p.Ala1297Gly)
c.2869C>G
n.964C>G
n.3174C>G
n.220C>G
n.3997C>G
c.4007C>G (p.Ala1336Gly)
c.3986C>G (p.Ala1329Gly)
c.3968C>G (p.Ala1323Gly)
c.3950C>G (p.Ala1317Gly)
c.3911C>G (p.Ala1304Gly)
c.3872C>G (p.Ala1291Gly)
c.3596C>G (p.Ala1199Gly)
c.3557C>G (p.Ala1186Gly)
c.3947C>G (p.Ala1316Gly)
c.3854C>G (p.Ala1285Gly)
c.3329C>G (p.Ala1110Gly)
c.3644C>G (p.Ala1215Gly)
n.8216C>G
3g.9475595C>TCA2239810SETD5n.2788C>T
c.3929C>T (p.Ala1310Val)
n.4822C>T
n.2213C>T
n.6630C>T
n.6075C>T
c.3833C>T (p.Ala1278Val)
c.*3979C>T (n.*3979C>T)
c.*3902C>T (n.*3902C>T)
c.*4207C>T (n.*4207C>T)
c.*3938C>T (n.*3938C>T)
c.3539C>T (p.Ala1180Val)
c.2722+439C>T
c.3890C>T (p.Ala1297Val)
c.2869C>T
n.964C>T
n.3174C>T
n.220C>T
n.3997C>T
c.4007C>T (p.Ala1336Val)
c.3986C>T (p.Ala1329Val)
c.3968C>T (p.Ala1323Val)
c.3950C>T (p.Ala1317Val)
c.3911C>T (p.Ala1304Val)
c.3872C>T (p.Ala1291Val)
c.3596C>T (p.Ala1199Val)
c.3557C>T (p.Ala1186Val)
c.3947C>T (p.Ala1316Val)
c.3854C>T (p.Ala1285Val)
c.3329C>T (p.Ala1110Val)
c.3644C>T (p.Ala1215Val)
n.8216C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475596A>CCA432528592SETD5n.2789A>C
c.3930A>C (p.Ala1310=)
n.4823A>C
n.2214A>C
n.6631A>C
n.6076A>C
c.3834A>C (p.Ala1278=)
c.*3980A>C (n.*3980A>C)
c.*3903A>C (n.*3903A>C)
c.*4208A>C (n.*4208A>C)
c.*3939A>C (n.*3939A>C)
c.3540A>C (p.Ala1180=)
c.2722+440A>C
c.3891A>C (p.Ala1297=)
c.2870A>C
n.965A>C
n.3175A>C
n.221A>C
n.3998A>C
c.4008A>C (p.Ala1336=)
c.3987A>C (p.Ala1329=)
c.3969A>C (p.Ala1323=)
c.3951A>C (p.Ala1317=)
c.3912A>C (p.Ala1304=)
c.3873A>C (p.Ala1291=)
c.3597A>C (p.Ala1199=)
c.3558A>C (p.Ala1186=)
c.3948A>C (p.Ala1316=)
c.3855A>C (p.Ala1285=)
c.3330A>C (p.Ala1110=)
c.3645A>C (p.Ala1215=)
n.8217A>C
3g.9475596A>GCA432528593SETD5n.2789A>G
c.3930A>G (p.Ala1310=)
n.4823A>G
n.2214A>G
n.6631A>G
n.6076A>G
c.3834A>G (p.Ala1278=)
c.*3980A>G (n.*3980A>G)
c.*3903A>G (n.*3903A>G)
c.*4208A>G (n.*4208A>G)
c.*3939A>G (n.*3939A>G)
c.3540A>G (p.Ala1180=)
c.2722+440A>G
c.3891A>G (p.Ala1297=)
c.2870A>G
n.965A>G
n.3175A>G
n.221A>G
n.3998A>G
c.4008A>G (p.Ala1336=)
c.3987A>G (p.Ala1329=)
c.3969A>G (p.Ala1323=)
c.3951A>G (p.Ala1317=)
c.3912A>G (p.Ala1304=)
c.3873A>G (p.Ala1291=)
c.3597A>G (p.Ala1199=)
c.3558A>G (p.Ala1186=)
c.3948A>G (p.Ala1316=)
c.3855A>G (p.Ala1285=)
c.3330A>G (p.Ala1110=)
c.3645A>G (p.Ala1215=)
n.8217A>G
3g.9475596A>TCA432528594SETD5n.2789A>T
c.3930A>T (p.Ala1310=)
n.4823A>T
n.2214A>T
n.6631A>T
n.6076A>T
c.3834A>T (p.Ala1278=)
c.*3980A>T (n.*3980A>T)
c.*3903A>T (n.*3903A>T)
c.*4208A>T (n.*4208A>T)
c.*3939A>T (n.*3939A>T)
c.3540A>T (p.Ala1180=)
c.2722+440A>T
c.3891A>T (p.Ala1297=)
c.2870A>T
n.965A>T
n.3175A>T
n.221A>T
n.3998A>T
c.4008A>T (p.Ala1336=)
c.3987A>T (p.Ala1329=)
c.3969A>T (p.Ala1323=)
c.3951A>T (p.Ala1317=)
c.3912A>T (p.Ala1304=)
c.3873A>T (p.Ala1291=)
c.3597A>T (p.Ala1199=)
c.3558A>T (p.Ala1186=)
c.3948A>T (p.Ala1316=)
c.3855A>T (p.Ala1285=)
c.3330A>T (p.Ala1110=)
c.3645A>T (p.Ala1215=)
n.8217A>T
3g.9475597C>ACA351691452SETD5n.2790C>A
c.3931C>A (p.Leu1311Met)
n.4824C>A
n.2215C>A
n.6632C>A
n.6077C>A
c.3835C>A (p.Leu1279Met)
c.*3981C>A (n.*3981C>A)
c.*3904C>A (n.*3904C>A)
c.*4209C>A (n.*4209C>A)
c.*3940C>A (n.*3940C>A)
c.3541C>A (p.Leu1181Met)
c.2722+441C>A
c.3892C>A (p.Leu1298Met)
c.2871C>A
n.966C>A
n.3176C>A
n.222C>A
n.3999C>A
c.4009C>A (p.Leu1337Met)
c.3988C>A (p.Leu1330Met)
c.3970C>A (p.Leu1324Met)
c.3952C>A (p.Leu1318Met)
c.3913C>A (p.Leu1305Met)
c.3874C>A (p.Leu1292Met)
c.3598C>A (p.Leu1200Met)
c.3559C>A (p.Leu1187Met)
c.3949C>A (p.Leu1317Met)
c.3856C>A (p.Leu1286Met)
c.3331C>A (p.Leu1111Met)
c.3646C>A (p.Leu1216Met)
n.8218C>A
3g.9475597C>GCA351691451SETD5n.2790C>G
c.3931C>G (p.Leu1311Val)
n.4824C>G
n.2215C>G
n.6632C>G
n.6077C>G
c.3835C>G (p.Leu1279Val)
c.*3981C>G (n.*3981C>G)
c.*3904C>G (n.*3904C>G)
c.*4209C>G (n.*4209C>G)
c.*3940C>G (n.*3940C>G)
c.3541C>G (p.Leu1181Val)
c.2722+441C>G
c.3892C>G (p.Leu1298Val)
c.2871C>G
n.966C>G
n.3176C>G
n.222C>G
n.3999C>G
c.4009C>G (p.Leu1337Val)
c.3988C>G (p.Leu1330Val)
c.3970C>G (p.Leu1324Val)
c.3952C>G (p.Leu1318Val)
c.3913C>G (p.Leu1305Val)
c.3874C>G (p.Leu1292Val)
c.3598C>G (p.Leu1200Val)
c.3559C>G (p.Leu1187Val)
c.3949C>G (p.Leu1317Val)
c.3856C>G (p.Leu1286Val)
c.3331C>G (p.Leu1111Val)
c.3646C>G (p.Leu1216Val)
n.8218C>G
3g.9475597C>TCA432528596SETD5n.2790C>T
c.3931C>T (p.Leu1311=)
n.4824C>T
n.2215C>T
n.6632C>T
n.6077C>T
c.3835C>T (p.Leu1279=)
c.*3981C>T (n.*3981C>T)
c.*3904C>T (n.*3904C>T)
c.*4209C>T (n.*4209C>T)
c.*3940C>T (n.*3940C>T)
c.3541C>T (p.Leu1181=)
c.2722+441C>T
c.3892C>T (p.Leu1298=)
c.2871C>T
n.966C>T
n.3176C>T
n.222C>T
n.3999C>T
c.4009C>T (p.Leu1337=)
c.3988C>T (p.Leu1330=)
c.3970C>T (p.Leu1324=)
c.3952C>T (p.Leu1318=)
c.3913C>T (p.Leu1305=)
c.3874C>T (p.Leu1292=)
c.3598C>T (p.Leu1200=)
c.3559C>T (p.Leu1187=)
c.3949C>T (p.Leu1317=)
c.3856C>T (p.Leu1286=)
c.3331C>T (p.Leu1111=)
c.3646C>T (p.Leu1216=)
n.8218C>T
3g.9475598T>ACA351691462SETD5n.2791T>A
c.3932T>A (p.Leu1311Gln)
n.4825T>A
n.2216T>A
n.6633T>A
n.6078T>A
c.3836T>A (p.Leu1279Gln)
c.*3982T>A (n.*3982T>A)
c.*3905T>A (n.*3905T>A)
c.*4210T>A (n.*4210T>A)
c.*3941T>A (n.*3941T>A)
c.3542T>A (p.Leu1181Gln)
c.2722+442T>A
c.3893T>A (p.Leu1298Gln)
c.2872T>A
n.967T>A
n.3177T>A
n.223T>A
n.4000T>A
c.4010T>A (p.Leu1337Gln)
c.3989T>A (p.Leu1330Gln)
c.3971T>A (p.Leu1324Gln)
c.3953T>A (p.Leu1318Gln)
c.3914T>A (p.Leu1305Gln)
c.3875T>A (p.Leu1292Gln)
c.3599T>A (p.Leu1200Gln)
c.3560T>A (p.Leu1187Gln)
c.3950T>A (p.Leu1317Gln)
c.3857T>A (p.Leu1286Gln)
c.3332T>A (p.Leu1111Gln)
c.3647T>A (p.Leu1216Gln)
n.8219T>A
3g.9475598T>CCA351691454SETD5n.2791T>C
c.3932T>C (p.Leu1311Pro)
n.4825T>C
n.2216T>C
n.6633T>C
n.6078T>C
c.3836T>C (p.Leu1279Pro)
c.*3982T>C (n.*3982T>C)
c.*3905T>C (n.*3905T>C)
c.*4210T>C (n.*4210T>C)
c.*3941T>C (n.*3941T>C)
c.3542T>C (p.Leu1181Pro)
c.2722+442T>C
c.3893T>C (p.Leu1298Pro)
c.2872T>C
n.967T>C
n.3177T>C
n.223T>C
n.4000T>C
c.4010T>C (p.Leu1337Pro)
c.3989T>C (p.Leu1330Pro)
c.3971T>C (p.Leu1324Pro)
c.3953T>C (p.Leu1318Pro)
c.3914T>C (p.Leu1305Pro)
c.3875T>C (p.Leu1292Pro)
c.3599T>C (p.Leu1200Pro)
c.3560T>C (p.Leu1187Pro)
c.3950T>C (p.Leu1317Pro)
c.3857T>C (p.Leu1286Pro)
c.3332T>C (p.Leu1111Pro)
c.3647T>C (p.Leu1216Pro)
n.8219T>C
3g.9475598T>GCA351691455SETD5n.2791T>G
c.3932T>G (p.Leu1311Arg)
n.4825T>G
n.2216T>G
n.6633T>G
n.6078T>G
c.3836T>G (p.Leu1279Arg)
c.*3982T>G (n.*3982T>G)
c.*3905T>G (n.*3905T>G)
c.*4210T>G (n.*4210T>G)
c.*3941T>G (n.*3941T>G)
c.3542T>G (p.Leu1181Arg)
c.2722+442T>G
c.3893T>G (p.Leu1298Arg)
c.2872T>G
n.967T>G
n.3177T>G
n.223T>G
n.4000T>G
c.4010T>G (p.Leu1337Arg)
c.3989T>G (p.Leu1330Arg)
c.3971T>G (p.Leu1324Arg)
c.3953T>G (p.Leu1318Arg)
c.3914T>G (p.Leu1305Arg)
c.3875T>G (p.Leu1292Arg)
c.3599T>G (p.Leu1200Arg)
c.3560T>G (p.Leu1187Arg)
c.3950T>G (p.Leu1317Arg)
c.3857T>G (p.Leu1286Arg)
c.3332T>G (p.Leu1111Arg)
c.3647T>G (p.Leu1216Arg)
n.8219T>G
3g.9475599G>ACA432528604SETD5n.2792G>A
c.3933G>A (p.Leu1311=)
n.4826G>A
n.2217G>A
n.6634G>A
n.6079G>A
c.3837G>A (p.Leu1279=)
c.*3983G>A (n.*3983G>A)
c.*3906G>A (n.*3906G>A)
c.*4211G>A (n.*4211G>A)
c.*3942G>A (n.*3942G>A)
c.3543G>A (p.Leu1181=)
c.2722+443G>A
c.3894G>A (p.Leu1298=)
c.2873G>A
n.968G>A
n.3178G>A
n.224G>A
n.4001G>A
c.4011G>A (p.Leu1337=)
c.3990G>A (p.Leu1330=)
c.3972G>A (p.Leu1324=)
c.3954G>A (p.Leu1318=)
c.3915G>A (p.Leu1305=)
c.3876G>A (p.Leu1292=)
c.3600G>A (p.Leu1200=)
c.3561G>A (p.Leu1187=)
c.3951G>A (p.Leu1317=)
c.3858G>A (p.Leu1286=)
c.3333G>A (p.Leu1111=)
c.3648G>A (p.Leu1216=)
n.8220G>A
 dbSNP gnomAD v3 gnomAD v4
3g.9475599G>CCA432528605SETD5n.2792G>C
c.3933G>C (p.Leu1311=)
n.4826G>C
n.2217G>C
n.6634G>C
n.6079G>C
c.3837G>C (p.Leu1279=)
c.*3983G>C (n.*3983G>C)
c.*3906G>C (n.*3906G>C)
c.*4211G>C (n.*4211G>C)
c.*3942G>C (n.*3942G>C)
c.3543G>C (p.Leu1181=)
c.2722+443G>C
c.3894G>C (p.Leu1298=)
c.2873G>C
n.968G>C
n.3178G>C
n.224G>C
n.4001G>C
c.4011G>C (p.Leu1337=)
c.3990G>C (p.Leu1330=)
c.3972G>C (p.Leu1324=)
c.3954G>C (p.Leu1318=)
c.3915G>C (p.Leu1305=)
c.3876G>C (p.Leu1292=)
c.3600G>C (p.Leu1200=)
c.3561G>C (p.Leu1187=)
c.3951G>C (p.Leu1317=)
c.3858G>C (p.Leu1286=)
c.3333G>C (p.Leu1111=)
c.3648G>C (p.Leu1216=)
n.8220G>C
3g.9475599G=CA1344742463SETD5n.2792G=
c.3933G= (p.Leu1311=)
n.4826G=
n.2217G=
n.6634G=
n.6079G=
c.3837G= (p.Leu1279=)
c.*3983G= (n.*3983G=)
c.*3906G= (n.*3906G=)
c.*4211G= (n.*4211G=)
c.*3942G= (n.*3942G=)
c.3543G= (p.Leu1181=)
c.2722+443G=
c.3894G= (p.Leu1298=)
c.2873G=
n.968G=
n.3178G=
n.224G=
n.4001G=
c.4011G= (p.Leu1337=)
c.3990G= (p.Leu1330=)
c.3972G= (p.Leu1324=)
c.3954G= (p.Leu1318=)
c.3915G= (p.Leu1305=)
c.3876G= (p.Leu1292=)
c.3600G= (p.Leu1200=)
c.3561G= (p.Leu1187=)
c.3951G= (p.Leu1317=)
c.3858G= (p.Leu1286=)
c.3333G= (p.Leu1111=)
c.3648G= (p.Leu1216=)
n.8220G=
3g.9475599G>TCA432528602SETD5n.2792G>T
c.3933G>T (p.Leu1311=)
n.4826G>T
n.2217G>T
n.6634G>T
n.6079G>T
c.3837G>T (p.Leu1279=)
c.*3983G>T (n.*3983G>T)
c.*3906G>T (n.*3906G>T)
c.*4211G>T (n.*4211G>T)
c.*3942G>T (n.*3942G>T)
c.3543G>T (p.Leu1181=)
c.2722+443G>T
c.3894G>T (p.Leu1298=)
c.2873G>T
n.968G>T
n.3178G>T
n.224G>T
n.4001G>T
c.4011G>T (p.Leu1337=)
c.3990G>T (p.Leu1330=)
c.3972G>T (p.Leu1324=)
c.3954G>T (p.Leu1318=)
c.3915G>T (p.Leu1305=)
c.3876G>T (p.Leu1292=)
c.3600G>T (p.Leu1200=)
c.3561G>T (p.Leu1187=)
c.3951G>T (p.Leu1317=)
c.3858G>T (p.Leu1286=)
c.3333G>T (p.Leu1111=)
c.3648G>T (p.Leu1216=)
n.8220G>T
3g.9475600A>CCA432528607SETD5n.2793A>C
c.3934A>C (p.Arg1312=)
n.4827A>C
n.2218A>C
n.6635A>C
n.6080A>C
c.3838A>C (p.Arg1280=)
c.*3984A>C (n.*3984A>C)
c.*3907A>C (n.*3907A>C)
c.*4212A>C (n.*4212A>C)
c.*3943A>C (n.*3943A>C)
c.3544A>C (p.Arg1182=)
c.2722+444A>C
c.3895A>C (p.Arg1299=)
c.2874A>C
n.969A>C
n.3179A>C
n.225A>C
n.4002A>C
c.4012A>C (p.Arg1338=)
c.3991A>C (p.Arg1331=)
c.3973A>C (p.Arg1325=)
c.3955A>C (p.Arg1319=)
c.3916A>C (p.Arg1306=)
c.3877A>C (p.Arg1293=)
c.3601A>C (p.Arg1201=)
c.3562A>C (p.Arg1188=)
c.3952A>C (p.Arg1318=)
c.3859A>C (p.Arg1287=)
c.3334A>C (p.Arg1112=)
c.3649A>C (p.Arg1217=)
n.8221A>C
3g.9475600A>GCA351691468SETD5n.2793A>G
c.3934A>G (p.Arg1312Gly)
n.4827A>G
n.2218A>G
n.6635A>G
n.6080A>G
c.3838A>G (p.Arg1280Gly)
c.*3984A>G (n.*3984A>G)
c.*3907A>G (n.*3907A>G)
c.*4212A>G (n.*4212A>G)
c.*3943A>G (n.*3943A>G)
c.3544A>G (p.Arg1182Gly)
c.2722+444A>G
c.3895A>G (p.Arg1299Gly)
c.2874A>G
n.969A>G
n.3179A>G
n.225A>G
n.4002A>G
c.4012A>G (p.Arg1338Gly)
c.3991A>G (p.Arg1331Gly)
c.3973A>G (p.Arg1325Gly)
c.3955A>G (p.Arg1319Gly)
c.3916A>G (p.Arg1306Gly)
c.3877A>G (p.Arg1293Gly)
c.3601A>G (p.Arg1201Gly)
c.3562A>G (p.Arg1188Gly)
c.3952A>G (p.Arg1318Gly)
c.3859A>G (p.Arg1287Gly)
c.3334A>G (p.Arg1112Gly)
c.3649A>G (p.Arg1217Gly)
n.8221A>G
3g.9475600A>TCA351691471SETD5n.2793A>T
c.3934A>T (p.Arg1312Ter)
n.4827A>T
n.2218A>T
n.6635A>T
n.6080A>T
c.3838A>T (p.Arg1280Ter)
c.*3984A>T (n.*3984A>T)
c.*3907A>T (n.*3907A>T)
c.*4212A>T (n.*4212A>T)
c.*3943A>T (n.*3943A>T)
c.3544A>T (p.Arg1182Ter)
c.2722+444A>T
c.3895A>T (p.Arg1299Ter)
c.2874A>T
n.969A>T
n.3179A>T
n.225A>T
n.4002A>T
c.4012A>T (p.Arg1338Ter)
c.3991A>T (p.Arg1331Ter)
c.3973A>T (p.Arg1325Ter)
c.3955A>T (p.Arg1319Ter)
c.3916A>T (p.Arg1306Ter)
c.3877A>T (p.Arg1293Ter)
c.3601A>T (p.Arg1201Ter)
c.3562A>T (p.Arg1188Ter)
c.3952A>T (p.Arg1318Ter)
c.3859A>T (p.Arg1287Ter)
c.3334A>T (p.Arg1112Ter)
c.3649A>T (p.Arg1217Ter)
n.8221A>T
3g.9475601G>ACA69951918SETD5n.2794G>A
c.3935G>A (p.Arg1312Lys)
n.4828G>A
n.2219G>A
n.6636G>A
n.6081G>A
c.3839G>A (p.Arg1280Lys)
c.*3985G>A (n.*3985G>A)
c.*3908G>A (n.*3908G>A)
c.*4213G>A (n.*4213G>A)
c.*3944G>A (n.*3944G>A)
c.3545G>A (p.Arg1182Lys)
c.2722+445G>A
c.3896G>A (p.Arg1299Lys)
c.2875G>A
n.970G>A
n.3180G>A
n.226G>A
n.4003G>A
c.4013G>A (p.Arg1338Lys)
c.3992G>A (p.Arg1331Lys)
c.3974G>A (p.Arg1325Lys)
c.3956G>A (p.Arg1319Lys)
c.3917G>A (p.Arg1306Lys)
c.3878G>A (p.Arg1293Lys)
c.3602G>A (p.Arg1201Lys)
c.3563G>A (p.Arg1188Lys)
c.3953G>A (p.Arg1318Lys)
c.3860G>A (p.Arg1287Lys)
c.3335G>A (p.Arg1112Lys)
c.3650G>A (p.Arg1217Lys)
n.8222G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.9475601G>CCA351691474SETD5n.2794G>C
c.3935G>C (p.Arg1312Thr)
n.4828G>C
n.2219G>C
n.6636G>C
n.6081G>C
c.3839G>C (p.Arg1280Thr)
c.*3985G>C (n.*3985G>C)
c.*3908G>C (n.*3908G>C)
c.*4213G>C (n.*4213G>C)
c.*3944G>C (n.*3944G>C)
c.3545G>C (p.Arg1182Thr)
c.2722+445G>C
c.3896G>C (p.Arg1299Thr)
c.2875G>C
n.970G>C
n.3180G>C
n.226G>C
n.4003G>C
c.4013G>C (p.Arg1338Thr)
c.3992G>C (p.Arg1331Thr)
c.3974G>C (p.Arg1325Thr)
c.3956G>C (p.Arg1319Thr)
c.3917G>C (p.Arg1306Thr)
c.3878G>C (p.Arg1293Thr)
c.3602G>C (p.Arg1201Thr)
c.3563G>C (p.Arg1188Thr)
c.3953G>C (p.Arg1318Thr)
c.3860G>C (p.Arg1287Thr)
c.3335G>C (p.Arg1112Thr)
c.3650G>C (p.Arg1217Thr)
n.8222G>C
3g.9475601G=CA1344742466SETD5n.2794G=
c.3935G= (p.Arg1312=)
n.4828G=
n.2219G=
n.6636G=
n.6081G=
c.3839G= (p.Arg1280=)
c.*3985G= (n.*3985G=)
c.*3908G= (n.*3908G=)
c.*4213G= (n.*4213G=)
c.*3944G= (n.*3944G=)
c.3545G= (p.Arg1182=)
c.2722+445G=
c.3896G= (p.Arg1299=)
c.2875G=
n.970G=
n.3180G=
n.226G=
n.4003G=
c.4013G= (p.Arg1338=)
c.3992G= (p.Arg1331=)
c.3974G= (p.Arg1325=)
c.3956G= (p.Arg1319=)
c.3917G= (p.Arg1306=)
c.3878G= (p.Arg1293=)
c.3602G= (p.Arg1201=)
c.3563G= (p.Arg1188=)
c.3953G= (p.Arg1318=)
c.3860G= (p.Arg1287=)
c.3335G= (p.Arg1112=)
c.3650G= (p.Arg1217=)
n.8222G=
3g.9475601G>TCA351691480SETD5n.2794G>T
c.3935G>T (p.Arg1312Ile)
n.4828G>T
n.2219G>T
n.6636G>T
n.6081G>T
c.3839G>T (p.Arg1280Ile)
c.*3985G>T (n.*3985G>T)
c.*3908G>T (n.*3908G>T)
c.*4213G>T (n.*4213G>T)
c.*3944G>T (n.*3944G>T)
c.3545G>T (p.Arg1182Ile)
c.2722+445G>T
c.3896G>T (p.Arg1299Ile)
c.2875G>T
n.970G>T
n.3180G>T
n.226G>T
n.4003G>T
c.4013G>T (p.Arg1338Ile)
c.3992G>T (p.Arg1331Ile)
c.3974G>T (p.Arg1325Ile)
c.3956G>T (p.Arg1319Ile)
c.3917G>T (p.Arg1306Ile)
c.3878G>T (p.Arg1293Ile)
c.3602G>T (p.Arg1201Ile)
c.3563G>T (p.Arg1188Ile)
c.3953G>T (p.Arg1318Ile)
c.3860G>T (p.Arg1287Ile)
c.3335G>T (p.Arg1112Ile)
c.3650G>T (p.Arg1217Ile)
n.8222G>T
3g.9475602A>CCA351691483SETD5n.2795A>C
c.3936A>C (p.Arg1312Ser)
n.4829A>C
n.2220A>C
n.6637A>C
n.6082A>C
c.3840A>C (p.Arg1280Ser)
c.*3986A>C (n.*3986A>C)
c.*3909A>C (n.*3909A>C)
c.*4214A>C (n.*4214A>C)
c.*3945A>C (n.*3945A>C)
c.3546A>C (p.Arg1182Ser)
c.2722+446A>C
c.3897A>C (p.Arg1299Ser)
c.2876A>C
n.971A>C
n.3181A>C
n.227A>C
n.4004A>C
c.4014A>C (p.Arg1338Ser)
c.3993A>C (p.Arg1331Ser)
c.3975A>C (p.Arg1325Ser)
c.3957A>C (p.Arg1319Ser)
c.3918A>C (p.Arg1306Ser)
c.3879A>C (p.Arg1293Ser)
c.3603A>C (p.Arg1201Ser)
c.3564A>C (p.Arg1188Ser)
c.3954A>C (p.Arg1318Ser)
c.3861A>C (p.Arg1287Ser)
c.3336A>C (p.Arg1112Ser)
c.3651A>C (p.Arg1217Ser)
n.8223A>C
3g.9475602A>GCA432528613SETD5n.2795A>G
c.3936A>G (p.Arg1312=)
n.4829A>G
n.2220A>G
n.6637A>G
n.6082A>G
c.3840A>G (p.Arg1280=)
c.*3986A>G (n.*3986A>G)
c.*3909A>G (n.*3909A>G)
c.*4214A>G (n.*4214A>G)
c.*3945A>G (n.*3945A>G)
c.3546A>G (p.Arg1182=)
c.2722+446A>G
c.3897A>G (p.Arg1299=)
c.2876A>G
n.971A>G
n.3181A>G
n.227A>G
n.4004A>G
c.4014A>G (p.Arg1338=)
c.3993A>G (p.Arg1331=)
c.3975A>G (p.Arg1325=)
c.3957A>G (p.Arg1319=)
c.3918A>G (p.Arg1306=)
c.3879A>G (p.Arg1293=)
c.3603A>G (p.Arg1201=)
c.3564A>G (p.Arg1188=)
c.3954A>G (p.Arg1318=)
c.3861A>G (p.Arg1287=)
c.3336A>G (p.Arg1112=)
c.3651A>G (p.Arg1217=)
n.8223A>G
3g.9475602A>TCA351691487SETD5n.2795A>T
c.3936A>T (p.Arg1312Ser)
n.4829A>T
n.2220A>T
n.6637A>T
n.6082A>T
c.3840A>T (p.Arg1280Ser)
c.*3986A>T (n.*3986A>T)
c.*3909A>T (n.*3909A>T)
c.*4214A>T (n.*4214A>T)
c.*3945A>T (n.*3945A>T)
c.3546A>T (p.Arg1182Ser)
c.2722+446A>T
c.3897A>T (p.Arg1299Ser)
c.2876A>T
n.971A>T
n.3181A>T
n.227A>T
n.4004A>T
c.4014A>T (p.Arg1338Ser)
c.3993A>T (p.Arg1331Ser)
c.3975A>T (p.Arg1325Ser)
c.3957A>T (p.Arg1319Ser)
c.3918A>T (p.Arg1306Ser)
c.3879A>T (p.Arg1293Ser)
c.3603A>T (p.Arg1201Ser)
c.3564A>T (p.Arg1188Ser)
c.3954A>T (p.Arg1318Ser)
c.3861A>T (p.Arg1287Ser)
c.3336A>T (p.Arg1112Ser)
c.3651A>T (p.Arg1217Ser)
n.8223A>T
3g.9475603C>ACA351691491SETD5n.2796C>A
c.3937C>A (p.Pro1313Thr)
n.4830C>A
n.2221C>A
n.6638C>A
n.6083C>A
c.3841C>A (p.Pro1281Thr)
c.*3987C>A (n.*3987C>A)
c.*3910C>A (n.*3910C>A)
c.*4215C>A (n.*4215C>A)
c.*3946C>A (n.*3946C>A)
c.3547C>A (p.Pro1183Thr)
c.2722+447C>A
c.3898C>A (p.Pro1300Thr)
c.2877C>A
n.972C>A
n.3182C>A
n.228C>A
n.4005C>A
c.4015C>A (p.Pro1339Thr)
c.3994C>A (p.Pro1332Thr)
c.3976C>A (p.Pro1326Thr)
c.3958C>A (p.Pro1320Thr)
c.3919C>A (p.Pro1307Thr)
c.3880C>A (p.Pro1294Thr)
c.3604C>A (p.Pro1202Thr)
c.3565C>A (p.Pro1189Thr)
c.3955C>A (p.Pro1319Thr)
c.3862C>A (p.Pro1288Thr)
c.3337C>A (p.Pro1113Thr)
c.3652C>A (p.Pro1218Thr)
n.8224C>A
3g.9475603C>GCA351691492SETD5n.2796C>G
c.3937C>G (p.Pro1313Ala)
n.4830C>G
n.2221C>G
n.6638C>G
n.6083C>G
c.3841C>G (p.Pro1281Ala)
c.*3987C>G (n.*3987C>G)
c.*3910C>G (n.*3910C>G)
c.*4215C>G (n.*4215C>G)
c.*3946C>G (n.*3946C>G)
c.3547C>G (p.Pro1183Ala)
c.2722+447C>G
c.3898C>G (p.Pro1300Ala)
c.2877C>G
n.972C>G
n.3182C>G
n.228C>G
n.4005C>G
c.4015C>G (p.Pro1339Ala)
c.3994C>G (p.Pro1332Ala)
c.3976C>G (p.Pro1326Ala)
c.3958C>G (p.Pro1320Ala)
c.3919C>G (p.Pro1307Ala)
c.3880C>G (p.Pro1294Ala)
c.3604C>G (p.Pro1202Ala)
c.3565C>G (p.Pro1189Ala)
c.3955C>G (p.Pro1319Ala)
c.3862C>G (p.Pro1288Ala)
c.3337C>G (p.Pro1113Ala)
c.3652C>G (p.Pro1218Ala)
n.8224C>G
3g.9475603C>TCA351691494SETD5n.2796C>T
c.3937C>T (p.Pro1313Ser)
n.4830C>T
n.2221C>T
n.6638C>T
n.6083C>T
c.3841C>T (p.Pro1281Ser)
c.*3987C>T (n.*3987C>T)
c.*3910C>T (n.*3910C>T)
c.*4215C>T (n.*4215C>T)
c.*3946C>T (n.*3946C>T)
c.3547C>T (p.Pro1183Ser)
c.2722+447C>T
c.3898C>T (p.Pro1300Ser)
c.2877C>T
n.972C>T
n.3182C>T
n.228C>T
n.4005C>T
c.4015C>T (p.Pro1339Ser)
c.3994C>T (p.Pro1332Ser)
c.3976C>T (p.Pro1326Ser)
c.3958C>T (p.Pro1320Ser)
c.3919C>T (p.Pro1307Ser)
c.3880C>T (p.Pro1294Ser)
c.3604C>T (p.Pro1202Ser)
c.3565C>T (p.Pro1189Ser)
c.3955C>T (p.Pro1319Ser)
c.3862C>T (p.Pro1288Ser)
c.3337C>T (p.Pro1113Ser)
c.3652C>T (p.Pro1218Ser)
n.8224C>T
3g.9475604C>ACA351691516SETD5n.2797C>A
c.3938C>A (p.Pro1313His)
n.4831C>A
n.2222C>A
n.6639C>A
n.6084C>A
c.3842C>A (p.Pro1281His)
c.*3988C>A (n.*3988C>A)
c.*3911C>A (n.*3911C>A)
c.*4216C>A (n.*4216C>A)
c.*3947C>A (n.*3947C>A)
c.3548C>A (p.Pro1183His)
c.2722+448C>A
c.3899C>A (p.Pro1300His)
c.2878C>A
n.973C>A
n.3183C>A
n.229C>A
n.4006C>A
c.4016C>A (p.Pro1339His)
c.3995C>A (p.Pro1332His)
c.3977C>A (p.Pro1326His)
c.3959C>A (p.Pro1320His)
c.3920C>A (p.Pro1307His)
c.3881C>A (p.Pro1294His)
c.3605C>A (p.Pro1202His)
c.3566C>A (p.Pro1189His)
c.3956C>A (p.Pro1319His)
c.3863C>A (p.Pro1288His)
c.3338C>A (p.Pro1113His)
c.3653C>A (p.Pro1218His)
n.8225C>A
3g.9475604C=CA1344742470SETD5n.2797C=
c.3938C= (p.Pro1313=)
n.4831C=
n.2222C=
n.6639C=
n.6084C=
c.3842C= (p.Pro1281=)
c.*3988C= (n.*3988C=)
c.*3911C= (n.*3911C=)
c.*4216C= (n.*4216C=)
c.*3947C= (n.*3947C=)
c.3548C= (p.Pro1183=)
c.2722+448C=
c.3899C= (p.Pro1300=)
c.2878C=
n.973C=
n.3183C=
n.229C=
n.4006C=
c.4016C= (p.Pro1339=)
c.3995C= (p.Pro1332=)
c.3977C= (p.Pro1326=)
c.3959C= (p.Pro1320=)
c.3920C= (p.Pro1307=)
c.3881C= (p.Pro1294=)
c.3605C= (p.Pro1202=)
c.3566C= (p.Pro1189=)
c.3956C= (p.Pro1319=)
c.3863C= (p.Pro1288=)
c.3338C= (p.Pro1113=)
c.3653C= (p.Pro1218=)
n.8225C=
3g.9475604C>GCA2239812SETD5n.2797C>G
c.3938C>G (p.Pro1313Arg)
n.4831C>G
n.2222C>G
n.6639C>G
n.6084C>G
c.3842C>G (p.Pro1281Arg)
c.*3988C>G (n.*3988C>G)
c.*3911C>G (n.*3911C>G)
c.*4216C>G (n.*4216C>G)
c.*3947C>G (n.*3947C>G)
c.3548C>G (p.Pro1183Arg)
c.2722+448C>G
c.3899C>G (p.Pro1300Arg)
c.2878C>G
n.973C>G
n.3183C>G
n.229C>G
n.4006C>G
c.4016C>G (p.Pro1339Arg)
c.3995C>G (p.Pro1332Arg)
c.3977C>G (p.Pro1326Arg)
c.3959C>G (p.Pro1320Arg)
c.3920C>G (p.Pro1307Arg)
c.3881C>G (p.Pro1294Arg)
c.3605C>G (p.Pro1202Arg)
c.3566C>G (p.Pro1189Arg)
c.3956C>G (p.Pro1319Arg)
c.3863C>G (p.Pro1288Arg)
c.3338C>G (p.Pro1113Arg)
c.3653C>G (p.Pro1218Arg)
n.8225C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.9475604C>TCA2239811SETD5n.2797C>T
c.3938C>T (p.Pro1313Leu)
n.4831C>T
n.2222C>T
n.6639C>T
n.6084C>T
c.3842C>T (p.Pro1281Leu)
c.*3988C>T (n.*3988C>T)
c.*3911C>T (n.*3911C>T)
c.*4216C>T (n.*4216C>T)
c.*3947C>T (n.*3947C>T)
c.3548C>T (p.Pro1183Leu)
c.2722+448C>T
c.3899C>T (p.Pro1300Leu)
c.2878C>T
n.973C>T
n.3183C>T
n.229C>T
n.4006C>T
c.4016C>T (p.Pro1339Leu)
c.3995C>T (p.Pro1332Leu)
c.3977C>T (p.Pro1326Leu)
c.3959C>T (p.Pro1320Leu)
c.3920C>T (p.Pro1307Leu)
c.3881C>T (p.Pro1294Leu)
c.3605C>T (p.Pro1202Leu)
c.3566C>T (p.Pro1189Leu)
c.3956C>T (p.Pro1319Leu)
c.3863C>T (p.Pro1288Leu)
c.3338C>T (p.Pro1113Leu)
c.3653C>T (p.Pro1218Leu)
n.8225C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.9475605T>ACA432528622SETD5n.2798T>A
c.3939T>A (p.Pro1313=)
n.4832T>A
n.2223T>A
n.6640T>A
n.6085T>A
c.3843T>A (p.Pro1281=)
c.*3989T>A (n.*3989T>A)
c.*3912T>A (n.*3912T>A)
c.*4217T>A (n.*4217T>A)
c.*3948T>A (n.*3948T>A)
c.3549T>A (p.Pro1183=)
c.2722+449T>A
c.3900T>A (p.Pro1300=)
c.2879T>A
n.974T>A
n.3184T>A
n.230T>A
n.4007T>A
c.4017T>A (p.Pro1339=)
c.3996T>A (p.Pro1332=)
c.3978T>A (p.Pro1326=)
c.3960T>A (p.Pro1320=)
c.3921T>A (p.Pro1307=)
c.3882T>A (p.Pro1294=)
c.3606T>A (p.Pro1202=)
c.3567T>A (p.Pro1189=)
c.3957T>A (p.Pro1319=)
c.3864T>A (p.Pro1288=)
c.3339T>A (p.Pro1113=)
c.3654T>A (p.Pro1218=)
n.8226T>A
3g.9475605T>CCA432528625SETD5n.2798T>C
c.3939T>C (p.Pro1313=)
n.4832T>C
n.2223T>C
n.6640T>C
n.6085T>C
c.3843T>C (p.Pro1281=)
c.*3989T>C (n.*3989T>C)
c.*3912T>C (n.*3912T>C)
c.*4217T>C (n.*4217T>C)
c.*3948T>C (n.*3948T>C)
c.3549T>C (p.Pro1183=)
c.2722+449T>C
c.3900T>C (p.Pro1300=)
c.2879T>C
n.974T>C
n.3184T>C
n.230T>C
n.4007T>C
c.4017T>C (p.Pro1339=)
c.3996T>C (p.Pro1332=)
c.3978T>C (p.Pro1326=)
c.3960T>C (p.Pro1320=)
c.3921T>C (p.Pro1307=)
c.3882T>C (p.Pro1294=)
c.3606T>C (p.Pro1202=)
c.3567T>C (p.Pro1189=)
c.3957T>C (p.Pro1319=)
c.3864T>C (p.Pro1288=)
c.3339T>C (p.Pro1113=)
c.3654T>C (p.Pro1218=)
n.8226T>C
3g.9475605T>GCA432528623SETD5n.2798T>G
c.3939T>G (p.Pro1313=)
n.4832T>G
n.2223T>G
n.6640T>G
n.6085T>G
c.3843T>G (p.Pro1281=)
c.*3989T>G (n.*3989T>G)
c.*3912T>G (n.*3912T>G)
c.*4217T>G (n.*4217T>G)
c.*3948T>G (n.*3948T>G)
c.3549T>G (p.Pro1183=)
c.2722+449T>G
c.3900T>G (p.Pro1300=)
c.2879T>G
n.974T>G
n.3184T>G
n.230T>G
n.4007T>G
c.4017T>G (p.Pro1339=)
c.3996T>G (p.Pro1332=)
c.3978T>G (p.Pro1326=)
c.3960T>G (p.Pro1320=)
c.3921T>G (p.Pro1307=)
c.3882T>G (p.Pro1294=)
c.3606T>G (p.Pro1202=)
c.3567T>G (p.Pro1189=)
c.3957T>G (p.Pro1319=)
c.3864T>G (p.Pro1288=)
c.3339T>G (p.Pro1113=)
c.3654T>G (p.Pro1218=)
n.8226T>G
3g.9475606G>ACA351691527SETD5n.2799G>A
c.3940G>A (p.Gly1314Arg)
n.4833G>A
n.2224G>A
n.6641G>A
n.6086G>A
c.3844G>A (p.Gly1282Arg)
c.*3990G>A (n.*3990G>A)
c.*3913G>A (n.*3913G>A)
c.*4218G>A (n.*4218G>A)
c.*3949G>A (n.*3949G>A)
c.3550G>A (p.Gly1184Arg)
c.2722+450G>A
c.3901G>A (p.Gly1301Arg)
c.2880G>A
n.975G>A
n.3185G>A
n.231G>A
n.4008G>A
c.4018G>A (p.Gly1340Arg)
c.3997G>A (p.Gly1333Arg)
c.3979G>A (p.Gly1327Arg)
c.3961G>A (p.Gly1321Arg)
c.3922G>A (p.Gly1308Arg)
c.3883G>A (p.Gly1295Arg)
c.3607G>A (p.Gly1203Arg)
c.3568G>A (p.Gly1190Arg)
c.3958G>A (p.Gly1320Arg)
c.3865G>A (p.Gly1289Arg)
c.3340G>A (p.Gly1114Arg)
c.3655G>A (p.Gly1219Arg)
n.8227G>A
3g.9475606G>CCA351691538SETD5n.2799G>C
c.3940G>C (p.Gly1314Arg)
n.4833G>C
n.2224G>C
n.6641G>C
n.6086G>C
c.3844G>C (p.Gly1282Arg)
c.*3990G>C (n.*3990G>C)
c.*3913G>C (n.*3913G>C)
c.*4218G>C (n.*4218G>C)
c.*3949G>C (n.*3949G>C)
c.3550G>C (p.Gly1184Arg)
c.2722+450G>C
c.3901G>C (p.Gly1301Arg)
c.2880G>C
n.975G>C
n.3185G>C
n.231G>C
n.4008G>C
c.4018G>C (p.Gly1340Arg)
c.3997G>C (p.Gly1333Arg)
c.3979G>C (p.Gly1327Arg)
c.3961G>C (p.Gly1321Arg)
c.3922G>C (p.Gly1308Arg)
c.3883G>C (p.Gly1295Arg)
c.3607G>C (p.Gly1203Arg)
c.3568G>C (p.Gly1190Arg)
c.3958G>C (p.Gly1320Arg)
c.3865G>C (p.Gly1289Arg)
c.3340G>C (p.Gly1114Arg)
c.3655G>C (p.Gly1219Arg)
n.8227G>C
3g.9475606G>TCA351691544SETD5n.2799G>T
c.3940G>T (p.Gly1314Ter)
n.4833G>T
n.2224G>T
n.6641G>T
n.6086G>T
c.3844G>T (p.Gly1282Ter)
c.*3990G>T (n.*3990G>T)
c.*3913G>T (n.*3913G>T)
c.*4218G>T (n.*4218G>T)
c.*3949G>T (n.*3949G>T)
c.3550G>T (p.Gly1184Ter)
c.2722+450G>T
c.3901G>T (p.Gly1301Ter)
c.2880G>T
n.975G>T
n.3185G>T
n.231G>T
n.4008G>T
c.4018G>T (p.Gly1340Ter)
c.3997G>T (p.Gly1333Ter)
c.3979G>T (p.Gly1327Ter)
c.3961G>T (p.Gly1321Ter)
c.3922G>T (p.Gly1308Ter)
c.3883G>T (p.Gly1295Ter)
c.3607G>T (p.Gly1203Ter)
c.3568G>T (p.Gly1190Ter)
c.3958G>T (p.Gly1320Ter)
c.3865G>T (p.Gly1289Ter)
c.3340G>T (p.Gly1114Ter)
c.3655G>T (p.Gly1219Ter)
n.8227G>T
3g.9475607G>ACA351691550SETD5n.2800G>A
c.3941G>A (p.Gly1314Glu)
n.4834G>A
n.2225G>A
n.6642G>A
n.6087G>A
c.3845G>A (p.Gly1282Glu)
c.*3991G>A (n.*3991G>A)
c.*3914G>A (n.*3914G>A)
c.*4219G>A (n.*4219G>A)
c.*3950G>A (n.*3950G>A)
c.3551G>A (p.Gly1184Glu)
c.2722+451G>A
c.3902G>A (p.Gly1301Glu)
c.2881G>A
n.976G>A
n.3186G>A
n.232G>A
n.4009G>A
c.4019G>A (p.Gly1340Glu)
c.3998G>A (p.Gly1333Glu)
c.3980G>A (p.Gly1327Glu)
c.3962G>A (p.Gly1321Glu)
c.3923G>A (p.Gly1308Glu)
c.3884G>A (p.Gly1295Glu)
c.3608G>A (p.Gly1203Glu)
c.3569G>A (p.Gly1190Glu)
c.3959G>A (p.Gly1320Glu)
c.3866G>A (p.Gly1289Glu)
c.3341G>A (p.Gly1114Glu)
c.3656G>A (p.Gly1219Glu)
n.8228G>A
3g.9475607G>CCA351691551SETD5n.2800G>C
c.3941G>C (p.Gly1314Ala)
n.4834G>C
n.2225G>C
n.6642G>C
n.6087G>C
c.3845G>C (p.Gly1282Ala)
c.*3991G>C (n.*3991G>C)
c.*3914G>C (n.*3914G>C)
c.*4219G>C (n.*4219G>C)
c.*3950G>C (n.*3950G>C)
c.3551G>C (p.Gly1184Ala)
c.2722+451G>C
c.3902G>C (p.Gly1301Ala)
c.2881G>C
n.976G>C
n.3186G>C
n.232G>C
n.4009G>C
c.4019G>C (p.Gly1340Ala)
c.3998G>C (p.Gly1333Ala)
c.3980G>C (p.Gly1327Ala)
c.3962G>C (p.Gly1321Ala)
c.3923G>C (p.Gly1308Ala)
c.3884G>C (p.Gly1295Ala)
c.3608G>C (p.Gly1203Ala)
c.3569G>C (p.Gly1190Ala)
c.3959G>C (p.Gly1320Ala)
c.3866G>C (p.Gly1289Ala)
c.3341G>C (p.Gly1114Ala)
c.3656G>C (p.Gly1219Ala)
n.8228G>C
 gnomAD v4
3g.9475607G>TCA351691553SETD5n.2800G>T
c.3941G>T (p.Gly1314Val)
n.4834G>T
n.2225G>T
n.6642G>T
n.6087G>T
c.3845G>T (p.Gly1282Val)
c.*3991G>T (n.*3991G>T)
c.*3914G>T (n.*3914G>T)
c.*4219G>T (n.*4219G>T)
c.*3950G>T (n.*3950G>T)
c.3551G>T (p.Gly1184Val)
c.2722+451G>T
c.3902G>T (p.Gly1301Val)
c.2881G>T
n.976G>T
n.3186G>T
n.232G>T
n.4009G>T
c.4019G>T (p.Gly1340Val)
c.3998G>T (p.Gly1333Val)
c.3980G>T (p.Gly1327Val)
c.3962G>T (p.Gly1321Val)
c.3923G>T (p.Gly1308Val)
c.3884G>T (p.Gly1295Val)
c.3608G>T (p.Gly1203Val)
c.3569G>T (p.Gly1190Val)
c.3959G>T (p.Gly1320Val)
c.3866G>T (p.Gly1289Val)
c.3341G>T (p.Gly1114Val)
c.3656G>T (p.Gly1219Val)
n.8228G>T
3g.9475608A>CCA432528633SETD5n.2801A>C
c.3942A>C (p.Gly1314=)
n.4835A>C
n.2226A>C
n.6643A>C
n.6088A>C
c.3846A>C (p.Gly1282=)
c.*3992A>C (n.*3992A>C)
c.*3915A>C (n.*3915A>C)
c.*4220A>C (n.*4220A>C)
c.*3951A>C (n.*3951A>C)
c.3552A>C (p.Gly1184=)
c.2722+452A>C
c.3903A>C (p.Gly1301=)
c.2882A>C
n.977A>C
n.3187A>C
n.233A>C
n.4010A>C
c.4020A>C (p.Gly1340=)
c.3999A>C (p.Gly1333=)
c.3981A>C (p.Gly1327=)
c.3963A>C (p.Gly1321=)
c.3924A>C (p.Gly1308=)
c.3885A>C (p.Gly1295=)
c.3609A>C (p.Gly1203=)
c.3570A>C (p.Gly1190=)
c.3960A>C (p.Gly1320=)
c.3867A>C (p.Gly1289=)
c.3342A>C (p.Gly1114=)
c.3657A>C (p.Gly1219=)
n.8229A>C
3g.9475608A>GCA432528634SETD5n.2801A>G
c.3942A>G (p.Gly1314=)
n.4835A>G
n.2226A>G
n.6643A>G
n.6088A>G
c.3846A>G (p.Gly1282=)
c.*3992A>G (n.*3992A>G)
c.*3915A>G (n.*3915A>G)
c.*4220A>G (n.*4220A>G)
c.*3951A>G (n.*3951A>G)
c.3552A>G (p.Gly1184=)
c.2722+452A>G
c.3903A>G (p.Gly1301=)
c.2882A>G
n.977A>G
n.3187A>G
n.233A>G
n.4010A>G
c.4020A>G (p.Gly1340=)
c.3999A>G (p.Gly1333=)
c.3981A>G (p.Gly1327=)
c.3963A>G (p.Gly1321=)
c.3924A>G (p.Gly1308=)
c.3885A>G (p.Gly1295=)
c.3609A>G (p.Gly1203=)
c.3570A>G (p.Gly1190=)
c.3960A>G (p.Gly1320=)
c.3867A>G (p.Gly1289=)
c.3342A>G (p.Gly1114=)
c.3657A>G (p.Gly1219=)
n.8229A>G
3g.9475608A>TCA432528635SETD5n.2801A>T
c.3942A>T (p.Gly1314=)
n.4835A>T
n.2226A>T
n.6643A>T
n.6088A>T
c.3846A>T (p.Gly1282=)
c.*3992A>T (n.*3992A>T)
c.*3915A>T (n.*3915A>T)
c.*4220A>T (n.*4220A>T)
c.*3951A>T (n.*3951A>T)
c.3552A>T (p.Gly1184=)
c.2722+452A>T
c.3903A>T (p.Gly1301=)
c.2882A>T
n.977A>T
n.3187A>T
n.233A>T
n.4010A>T
c.4020A>T (p.Gly1340=)
c.3999A>T (p.Gly1333=)
c.3981A>T (p.Gly1327=)
c.3963A>T (p.Gly1321=)
c.3924A>T (p.Gly1308=)
c.3885A>T (p.Gly1295=)
c.3609A>T (p.Gly1203=)
c.3570A>T (p.Gly1190=)
c.3960A>T (p.Gly1320=)
c.3867A>T (p.Gly1289=)
c.3342A>T (p.Gly1114=)
c.3657A>T (p.Gly1219=)
n.8229A>T
3g.9475609A=CA1344742473SETD5n.2802A=
c.3943A= (p.Asn1315=)
n.4836A=
n.2227A=
n.6644A=
n.6089A=
c.3847A= (p.Asn1283=)
c.*3993A= (n.*3993A=)
c.*3916A= (n.*3916A=)
c.*4221A= (n.*4221A=)
c.*3952A= (n.*3952A=)
c.3553A= (p.Asn1185=)
c.2722+453A=
c.3904A= (p.Asn1302=)
c.2883A=
n.978A=
n.3188A=
n.234A=
n.4011A=
c.4021A= (p.Asn1341=)
c.4000A= (p.Asn1334=)
c.3982A= (p.Asn1328=)
c.3964A= (p.Asn1322=)
c.3925A= (p.Asn1309=)
c.3886A= (p.Asn1296=)
c.3610A= (p.Asn1204=)
c.3571A= (p.Asn1191=)
c.3961A= (p.Asn1321=)
c.3868A= (p.Asn1290=)
c.3343A= (p.Asn1115=)
c.3658A= (p.Asn1220=)
n.8230A=
3g.9475609A>CCA351691559SETD5n.2802A>C
c.3943A>C (p.Asn1315His)
n.4836A>C
n.2227A>C
n.6644A>C
n.6089A>C
c.3847A>C (p.Asn1283His)
c.*3993A>C (n.*3993A>C)
c.*3916A>C (n.*3916A>C)
c.*4221A>C (n.*4221A>C)
c.*3952A>C (n.*3952A>C)
c.3553A>C (p.Asn1185His)
c.2722+453A>C
c.3904A>C (p.Asn1302His)
c.2883A>C
n.978A>C
n.3188A>C
n.234A>C
n.4011A>C
c.4021A>C (p.Asn1341His)
c.4000A>C (p.Asn1334His)
c.3982A>C (p.Asn1328His)
c.3964A>C (p.Asn1322His)
c.3925A>C (p.Asn1309His)
c.3886A>C (p.Asn1296His)
c.3610A>C (p.Asn1204His)
c.3571A>C (p.Asn1191His)
c.3961A>C (p.Asn1321His)
c.3868A>C (p.Asn1290His)
c.3343A>C (p.Asn1115His)
c.3658A>C (p.Asn1220His)
n.8230A>C
3g.9475609A>GCA351691561SETD5n.2802A>G
c.3943A>G (p.Asn1315Asp)
n.4836A>G
n.2227A>G
n.6644A>G
n.6089A>G
c.3847A>G (p.Asn1283Asp)
c.*3993A>G (n.*3993A>G)
c.*3916A>G (n.*3916A>G)
c.*4221A>G (n.*4221A>G)
c.*3952A>G (n.*3952A>G)
c.3553A>G (p.Asn1185Asp)
c.2722+453A>G
c.3904A>G (p.Asn1302Asp)
c.2883A>G
n.978A>G
n.3188A>G
n.234A>G
n.4011A>G
c.4021A>G (p.Asn1341Asp)
c.4000A>G (p.Asn1334Asp)
c.3982A>G (p.Asn1328Asp)
c.3964A>G (p.Asn1322Asp)
c.3925A>G (p.Asn1309Asp)
c.3886A>G (p.Asn1296Asp)
c.3610A>G (p.Asn1204Asp)
c.3571A>G (p.Asn1191Asp)
c.3961A>G (p.Asn1321Asp)
c.3868A>G (p.Asn1290Asp)
c.3343A>G (p.Asn1115Asp)
c.3658A>G (p.Asn1220Asp)
n.8230A>G
 dbSNP
3g.9475609A>TCA351691563SETD5n.2802A>T
c.3943A>T (p.Asn1315Tyr)
n.4836A>T
n.2227A>T
n.6644A>T
n.6089A>T
c.3847A>T (p.Asn1283Tyr)
c.*3993A>T (n.*3993A>T)
c.*3916A>T (n.*3916A>T)
c.*4221A>T (n.*4221A>T)
c.*3952A>T (n.*3952A>T)
c.3553A>T (p.Asn1185Tyr)
c.2722+453A>T
c.3904A>T (p.Asn1302Tyr)
c.2883A>T
n.978A>T
n.3188A>T
n.234A>T
n.4011A>T
c.4021A>T (p.Asn1341Tyr)
c.4000A>T (p.Asn1334Tyr)
c.3982A>T (p.Asn1328Tyr)
c.3964A>T (p.Asn1322Tyr)
c.3925A>T (p.Asn1309Tyr)
c.3886A>T (p.Asn1296Tyr)
c.3610A>T (p.Asn1204Tyr)
c.3571A>T (p.Asn1191Tyr)
c.3961A>T (p.Asn1321Tyr)
c.3868A>T (p.Asn1290Tyr)
c.3343A>T (p.Asn1115Tyr)
c.3658A>T (p.Asn1220Tyr)
n.8230A>T
3g.9475610A=CA1344742475SETD5n.2803A=
c.3944A= (p.Asn1315=)
n.4837A=
n.2228A=
n.6645A=
n.6090A=
c.3848A= (p.Asn1283=)
c.*3994A= (n.*3994A=)
c.*3917A= (n.*3917A=)
c.*4222A= (n.*4222A=)
c.*3953A= (n.*3953A=)
c.3554A= (p.Asn1185=)
c.2722+454A=
c.3905A= (p.Asn1302=)
c.2884A=
n.979A=
n.3189A=
n.235A=
n.4012A=
c.4022A= (p.Asn1341=)
c.4001A= (p.Asn1334=)
c.3983A= (p.Asn1328=)
c.3965A= (p.Asn1322=)
c.3926A= (p.Asn1309=)
c.3887A= (p.Asn1296=)
c.3611A= (p.Asn1204=)
c.3572A= (p.Asn1191=)
c.3962A= (p.Asn1321=)
c.3869A= (p.Asn1290=)
c.3344A= (p.Asn1115=)
c.3659A= (p.Asn1220=)
n.8231A=
3g.9475610A>CCA351691576SETD5n.2803A>C
c.3944A>C (p.Asn1315Thr)
n.4837A>C
n.2228A>C
n.6645A>C
n.6090A>C
c.3848A>C (p.Asn1283Thr)
c.*3994A>C (n.*3994A>C)
c.*3917A>C (n.*3917A>C)
c.*4222A>C (n.*4222A>C)
c.*3953A>C (n.*3953A>C)
c.3554A>C (p.Asn1185Thr)
c.2722+454A>C
c.3905A>C (p.Asn1302Thr)
c.2884A>C
n.979A>C
n.3189A>C
n.235A>C
n.4012A>C
c.4022A>C (p.Asn1341Thr)
c.4001A>C (p.Asn1334Thr)
c.3983A>C (p.Asn1328Thr)
c.3965A>C (p.Asn1322Thr)
c.3926A>C (p.Asn1309Thr)
c.3887A>C (p.Asn1296Thr)
c.3611A>C (p.Asn1204Thr)
c.3572A>C (p.Asn1191Thr)
c.3962A>C (p.Asn1321Thr)
c.3869A>C (p.Asn1290Thr)
c.3344A>C (p.Asn1115Thr)
c.3659A>C (p.Asn1220Thr)
n.8231A>C
 dbSNP gnomAD v2 gnomAD v4
3g.9475610A>GCA351691579SETD5n.2803A>G
c.3944A>G (p.Asn1315Ser)
n.4837A>G
n.2228A>G
n.6645A>G
n.6090A>G
c.3848A>G (p.Asn1283Ser)
c.*3994A>G (n.*3994A>G)
c.*3917A>G (n.*3917A>G)
c.*4222A>G (n.*4222A>G)
c.*3953A>G (n.*3953A>G)
c.3554A>G (p.Asn1185Ser)
c.2722+454A>G
c.3905A>G (p.Asn1302Ser)
c.2884A>G
n.979A>G
n.3189A>G
n.235A>G
n.4012A>G
c.4022A>G (p.Asn1341Ser)
c.4001A>G (p.Asn1334Ser)
c.3983A>G (p.Asn1328Ser)
c.3965A>G (p.Asn1322Ser)
c.3926A>G (p.Asn1309Ser)
c.3887A>G (p.Asn1296Ser)
c.3611A>G (p.Asn1204Ser)
c.3572A>G (p.Asn1191Ser)
c.3962A>G (p.Asn1321Ser)
c.3869A>G (p.Asn1290Ser)
c.3344A>G (p.Asn1115Ser)
c.3659A>G (p.Asn1220Ser)
n.8231A>G
3g.9475610A>TCA351691580SETD5n.2803A>T
c.3944A>T (p.Asn1315Ile)
n.4837A>T
n.2228A>T
n.6645A>T
n.6090A>T
c.3848A>T (p.Asn1283Ile)
c.*3994A>T (n.*3994A>T)
c.*3917A>T (n.*3917A>T)
c.*4222A>T (n.*4222A>T)
c.*3953A>T (n.*3953A>T)
c.3554A>T (p.Asn1185Ile)
c.2722+454A>T
c.3905A>T (p.Asn1302Ile)
c.2884A>T
n.979A>T
n.3189A>T
n.235A>T
n.4012A>T
c.4022A>T (p.Asn1341Ile)
c.4001A>T (p.Asn1334Ile)
c.3983A>T (p.Asn1328Ile)
c.3965A>T (p.Asn1322Ile)
c.3926A>T (p.Asn1309Ile)
c.3887A>T (p.Asn1296Ile)
c.3611A>T (p.Asn1204Ile)
c.3572A>T (p.Asn1191Ile)
c.3962A>T (p.Asn1321Ile)
c.3869A>T (p.Asn1290Ile)
c.3344A>T (p.Asn1115Ile)
c.3659A>T (p.Asn1220Ile)
n.8231A>T
3g.9475611C>ACA351691582SETD5n.2804C>A
c.3945C>A (p.Asn1315Lys)
n.4838C>A
n.2229C>A
n.6646C>A
n.6091C>A
c.3849C>A (p.Asn1283Lys)
c.*3995C>A (n.*3995C>A)
c.*3918C>A (n.*3918C>A)
c.*4223C>A (n.*4223C>A)
c.*3954C>A (n.*3954C>A)
c.3555C>A (p.Asn1185Lys)
c.2722+455C>A
c.3906C>A (p.Asn1302Lys)
c.2885C>A
n.980C>A
n.3190C>A
n.236C>A
n.4013C>A
c.4023C>A (p.Asn1341Lys)
c.4002C>A (p.Asn1334Lys)
c.3984C>A (p.Asn1328Lys)
c.3966C>A (p.Asn1322Lys)
c.3927C>A (p.Asn1309Lys)
c.3888C>A (p.Asn1296Lys)
c.3612C>A (p.Asn1204Lys)
c.3573C>A (p.Asn1191Lys)
c.3963C>A (p.Asn1321Lys)
c.3870C>A (p.Asn1290Lys)
c.3345C>A (p.Asn1115Lys)
c.3660C>A (p.Asn1220Lys)
n.8232C>A
3g.9475611C>GCA351691584SETD5n.2804C>G
c.3945C>G (p.Asn1315Lys)
n.4838C>G
n.2229C>G
n.6646C>G
n.6091C>G
c.3849C>G (p.Asn1283Lys)
c.*3995C>G (n.*3995C>G)
c.*3918C>G (n.*3918C>G)
c.*4223C>G (n.*4223C>G)
c.*3954C>G (n.*3954C>G)
c.3555C>G (p.Asn1185Lys)
c.2722+455C>G
c.3906C>G (p.Asn1302Lys)
c.2885C>G
n.980C>G
n.3190C>G
n.236C>G
n.4013C>G
c.4023C>G (p.Asn1341Lys)
c.4002C>G (p.Asn1334Lys)
c.3984C>G (p.Asn1328Lys)
c.3966C>G (p.Asn1322Lys)
c.3927C>G (p.Asn1309Lys)
c.3888C>G (p.Asn1296Lys)
c.3612C>G (p.Asn1204Lys)
c.3573C>G (p.Asn1191Lys)
c.3963C>G (p.Asn1321Lys)
c.3870C>G (p.Asn1290Lys)
c.3345C>G (p.Asn1115Lys)
c.3660C>G (p.Asn1220Lys)
n.8232C>G
3g.9475611C>TCA432528641SETD5n.2804C>T
c.3945C>T (p.Asn1315=)
n.4838C>T
n.2229C>T
n.6646C>T
n.6091C>T
c.3849C>T (p.Asn1283=)
c.*3995C>T (n.*3995C>T)
c.*3918C>T (n.*3918C>T)
c.*4223C>T (n.*4223C>T)
c.*3954C>T (n.*3954C>T)
c.3555C>T (p.Asn1185=)
c.2722+455C>T
c.3906C>T (p.Asn1302=)
c.2885C>T
n.980C>T
n.3190C>T
n.236C>T
n.4013C>T
c.4023C>T (p.Asn1341=)
c.4002C>T (p.Asn1334=)
c.3984C>T (p.Asn1328=)
c.3966C>T (p.Asn1322=)
c.3927C>T (p.Asn1309=)
c.3888C>T (p.Asn1296=)
c.3612C>T (p.Asn1204=)
c.3573C>T (p.Asn1191=)
c.3963C>T (p.Asn1321=)
c.3870C>T (p.Asn1290=)
c.3345C>T (p.Asn1115=)
c.3660C>T (p.Asn1220=)
n.8232C>T
3g.9475617dupCA645526497SETD5n.2810dup
c.3951dup (p.Ser1318LeufsTer?)
n.4844dup
n.2235dup
n.6652dup
n.6097dup
c.3855dup (p.Ser1286LeufsTer?)
c.*4001dup (n.*4001dup)
c.*3924dup (n.*3924dup)
c.*4229dup (n.*4229dup)
c.*3960dup (n.*3960dup)
c.3561dup (p.Ser1188LeufsTer?)
c.2722+461dup
c.3912dup (p.Ser1305LeufsTer?)
c.2891dup
n.986dup
n.3196dup
n.242dup
n.4019dup
c.4029dup (p.Ser1344LeufsTer?)
c.4008dup (p.Ser1337LeufsTer?)
c.3990dup (p.Ser1331LeufsTer?)
c.3972dup (p.Ser1325LeufsTer?)
c.3933dup (p.Ser1312LeufsTer?)
c.3894dup (p.Ser1299LeufsTer?)
c.3618dup (p.Ser1207LeufsTer?)
c.3579dup (p.Ser1194LeufsTer?)
c.3969dup (p.Ser1324LeufsTer?)
c.3876dup (p.Ser1293LeufsTer?)
c.3351dup (p.Ser1118LeufsTer?)
c.3666dup (p.Ser1223LeufsTer?)
n.8238dup
 ClinVar dbSNP COSMIC COSMIC
3g.9475617delCA645526496SETD5n.2810del
c.3951del (p.Ser1318LeufsTer?)
n.4844del
n.2235del
n.6652del
n.6097del
c.3855del (p.Ser1286LeufsTer?)
c.*4001del (n.*4001del)
c.*3924del (n.*3924del)
c.*4229del (n.*4229del)
c.*3960del (n.*3960del)
c.3561del (p.Ser1188LeufsTer?)
c.2722+461del
c.3912del (p.Ser1305LeufsTer?)
c.2891del
n.986del
n.3196del
n.242del
n.4019del
c.4029del (p.Ser1344LeufsTer?)
c.4008del (p.Ser1337LeufsTer?)
c.3990del (p.Ser1331LeufsTer?)
c.3972del (p.Ser1325LeufsTer?)
c.3933del (p.Ser1312LeufsTer?)
c.3894del (p.Ser1299LeufsTer?)
c.3618del (p.Ser1207LeufsTer?)
c.3579del (p.Ser1194LeufsTer?)
c.3969del (p.Ser1324LeufsTer?)
c.3876del (p.Ser1293LeufsTer?)
c.3351del (p.Ser1118LeufsTer?)
c.3666del (p.Ser1223LeufsTer?)
n.8238del
 ClinVar COSMIC COSMIC
3g.9475612C>ACA351691591SETD5n.2805C>A
c.3946C>A (p.Pro1316Thr)
n.4839C>A
n.2230C>A
n.6647C>A
n.6092C>A
c.3850C>A (p.Pro1284Thr)
c.*3996C>A (n.*3996C>A)
c.*3919C>A (n.*3919C>A)
c.*4224C>A (n.*4224C>A)
c.*3955C>A (n.*3955C>A)
c.3556C>A (p.Pro1186Thr)
c.2722+456C>A
c.3907C>A (p.Pro1303Thr)
c.2886C>A
n.981C>A
n.3191C>A
n.237C>A
n.4014C>A
c.4024C>A (p.Pro1342Thr)
c.4003C>A (p.Pro1335Thr)
c.3985C>A (p.Pro1329Thr)
c.3967C>A (p.Pro1323Thr)
c.3928C>A (p.Pro1310Thr)
c.3889C>A (p.Pro1297Thr)
c.3613C>A (p.Pro1205Thr)
c.3574C>A (p.Pro1192Thr)
c.3964C>A (p.Pro1322Thr)
c.3871C>A (p.Pro1291Thr)
c.3346C>A (p.Pro1116Thr)
c.3661C>A (p.Pro1221Thr)
n.8233C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.9475612C=CA1344742486SETD5n.2805C=
c.3946C= (p.Pro1316=)
n.4839C=
n.2230C=
n.6647C=
n.6092C=
c.3850C= (p.Pro1284=)
c.*3996C= (n.*3996C=)
c.*3919C= (n.*3919C=)
c.*4224C= (n.*4224C=)
c.*3955C= (n.*3955C=)
c.3556C= (p.Pro1186=)
c.2722+456C=
c.3907C= (p.Pro1303=)
c.2886C=
n.981C=
n.3191C=
n.237C=
n.4014C=
c.4024C= (p.Pro1342=)
c.4003C= (p.Pro1335=)
c.3985C= (p.Pro1329=)
c.3967C= (p.Pro1323=)
c.3928C= (p.Pro1310=)
c.3889C= (p.Pro1297=)
c.3613C= (p.Pro1205=)
c.3574C= (p.Pro1192=)
c.3964C= (p.Pro1322=)
c.3871C= (p.Pro1291=)
c.3346C= (p.Pro1116=)
c.3661C= (p.Pro1221=)
n.8233C=
3g.9475612C>GCA2239813SETD5n.2805C>G
c.3946C>G (p.Pro1316Ala)
n.4839C>G
n.2230C>G
n.6647C>G
n.6092C>G
c.3850C>G (p.Pro1284Ala)
c.*3996C>G (n.*3996C>G)
c.*3919C>G (n.*3919C>G)
c.*4224C>G (n.*4224C>G)
c.*3955C>G (n.*3955C>G)
c.3556C>G (p.Pro1186Ala)
c.2722+456C>G
c.3907C>G (p.Pro1303Ala)
c.2886C>G
n.981C>G
n.3191C>G
n.237C>G
n.4014C>G
c.4024C>G (p.Pro1342Ala)
c.4003C>G (p.Pro1335Ala)
c.3985C>G (p.Pro1329Ala)
c.3967C>G (p.Pro1323Ala)
c.3928C>G (p.Pro1310Ala)
c.3889C>G (p.Pro1297Ala)
c.3613C>G (p.Pro1205Ala)
c.3574C>G (p.Pro1192Ala)
c.3964C>G (p.Pro1322Ala)
c.3871C>G (p.Pro1291Ala)
c.3346C>G (p.Pro1116Ala)
c.3661C>G (p.Pro1221Ala)
n.8233C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.9475612C>TCA351691593SETD5n.2805C>T
c.3946C>T (p.Pro1316Ser)
n.4839C>T
n.2230C>T
n.6647C>T
n.6092C>T
c.3850C>T (p.Pro1284Ser)
c.*3996C>T (n.*3996C>T)
c.*3919C>T (n.*3919C>T)
c.*4224C>T (n.*4224C>T)
c.*3955C>T (n.*3955C>T)
c.3556C>T (p.Pro1186Ser)
c.2722+456C>T
c.3907C>T (p.Pro1303Ser)
c.2886C>T
n.981C>T
n.3191C>T
n.237C>T
n.4014C>T
c.4024C>T (p.Pro1342Ser)
c.4003C>T (p.Pro1335Ser)
c.3985C>T (p.Pro1329Ser)
c.3967C>T (p.Pro1323Ser)
c.3928C>T (p.Pro1310Ser)
c.3889C>T (p.Pro1297Ser)
c.3613C>T (p.Pro1205Ser)
c.3574C>T (p.Pro1192Ser)
c.3964C>T (p.Pro1322Ser)
c.3871C>T (p.Pro1291Ser)
c.3346C>T (p.Pro1116Ser)
c.3661C>T (p.Pro1221Ser)
n.8233C>T
 gnomAD v4
3g.9475613C>ACA351691596SETD5n.2806C>A
c.3947C>A (p.Pro1316His)
n.4840C>A
n.2231C>A
n.6648C>A
n.6093C>A
c.3851C>A (p.Pro1284His)
c.*3997C>A (n.*3997C>A)
c.*3920C>A (n.*3920C>A)
c.*4225C>A (n.*4225C>A)
c.*3956C>A (n.*3956C>A)
c.3557C>A (p.Pro1186His)
c.2722+457C>A
c.3908C>A (p.Pro1303His)
c.2887C>A
n.982C>A
n.3192C>A
n.238C>A
n.4015C>A
c.4025C>A (p.Pro1342His)
c.4004C>A (p.Pro1335His)
c.3986C>A (p.Pro1329His)
c.3968C>A (p.Pro1323His)
c.3929C>A (p.Pro1310His)
c.3890C>A (p.Pro1297His)
c.3614C>A (p.Pro1205His)
c.3575C>A (p.Pro1192His)
c.3965C>A (p.Pro1322His)
c.3872C>A (p.Pro1291His)
c.3347C>A (p.Pro1116His)
c.3662C>A (p.Pro1221His)
n.8234C>A
3g.9475613C>GCA351691603SETD5n.2806C>G
c.3947C>G (p.Pro1316Arg)
n.4840C>G
n.2231C>G
n.6648C>G
n.6093C>G
c.3851C>G (p.Pro1284Arg)
c.*3997C>G (n.*3997C>G)
c.*3920C>G (n.*3920C>G)
c.*4225C>G (n.*4225C>G)
c.*3956C>G (n.*3956C>G)
c.3557C>G (p.Pro1186Arg)
c.2722+457C>G
c.3908C>G (p.Pro1303Arg)
c.2887C>G
n.982C>G
n.3192C>G
n.238C>G
n.4015C>G
c.4025C>G (p.Pro1342Arg)
c.4004C>G (p.Pro1335Arg)
c.3986C>G (p.Pro1329Arg)
c.3968C>G (p.Pro1323Arg)
c.3929C>G (p.Pro1310Arg)
c.3890C>G (p.Pro1297Arg)
c.3614C>G (p.Pro1205Arg)
c.3575C>G (p.Pro1192Arg)
c.3965C>G (p.Pro1322Arg)
c.3872C>G (p.Pro1291Arg)
c.3347C>G (p.Pro1116Arg)
c.3662C>G (p.Pro1221Arg)
n.8234C>G
 gnomAD v4
3g.9475613C>TCA351691606SETD5n.2806C>T
c.3947C>T (p.Pro1316Leu)
n.4840C>T
n.2231C>T
n.6648C>T
n.6093C>T
c.3851C>T (p.Pro1284Leu)
c.*3997C>T (n.*3997C>T)
c.*3920C>T (n.*3920C>T)
c.*4225C>T (n.*4225C>T)
c.*3956C>T (n.*3956C>T)
c.3557C>T (p.Pro1186Leu)
c.2722+457C>T
c.3908C>T (p.Pro1303Leu)
c.2887C>T
n.982C>T
n.3192C>T
n.238C>T
n.4015C>T
c.4025C>T (p.Pro1342Leu)
c.4004C>T (p.Pro1335Leu)
c.3986C>T (p.Pro1329Leu)
c.3968C>T (p.Pro1323Leu)
c.3929C>T (p.Pro1310Leu)
c.3890C>T (p.Pro1297Leu)
c.3614C>T (p.Pro1205Leu)
c.3575C>T (p.Pro1192Leu)
c.3965C>T (p.Pro1322Leu)
c.3872C>T (p.Pro1291Leu)
c.3347C>T (p.Pro1116Leu)
c.3662C>T (p.Pro1221Leu)
n.8234C>T
3g.9475614C>ACA432528649SETD5n.2807C>A
c.3948C>A (p.Pro1316=)
n.4841C>A
n.2232C>A
n.6649C>A
n.6094C>A
c.3852C>A (p.Pro1284=)
c.*3998C>A (n.*3998C>A)
c.*3921C>A (n.*3921C>A)
c.*4226C>A (n.*4226C>A)
c.*3957C>A (n.*3957C>A)
c.3558C>A (p.Pro1186=)
c.2722+458C>A
c.3909C>A (p.Pro1303=)
c.2888C>A
n.983C>A
n.3193C>A
n.239C>A
n.4016C>A
c.4026C>A (p.Pro1342=)
c.4005C>A (p.Pro1335=)
c.3987C>A (p.Pro1329=)
c.3969C>A (p.Pro1323=)
c.3930C>A (p.Pro1310=)
c.3891C>A (p.Pro1297=)
c.3615C>A (p.Pro1205=)
c.3576C>A (p.Pro1192=)
c.3966C>A (p.Pro1322=)
c.3873C>A (p.Pro1291=)
c.3348C>A (p.Pro1116=)
c.3663C>A (p.Pro1221=)
n.8235C>A
 gnomAD v4
3g.9475614C>GCA432528650SETD5n.2807C>G
c.3948C>G (p.Pro1316=)
n.4841C>G
n.2232C>G
n.6649C>G
n.6094C>G
c.3852C>G (p.Pro1284=)
c.*3998C>G (n.*3998C>G)
c.*3921C>G (n.*3921C>G)
c.*4226C>G (n.*4226C>G)
c.*3957C>G (n.*3957C>G)
c.3558C>G (p.Pro1186=)
c.2722+458C>G
c.3909C>G (p.Pro1303=)
c.2888C>G
n.983C>G
n.3193C>G
n.239C>G
n.4016C>G
c.4026C>G (p.Pro1342=)
c.4005C>G (p.Pro1335=)
c.3987C>G (p.Pro1329=)
c.3969C>G (p.Pro1323=)
c.3930C>G (p.Pro1310=)
c.3891C>G (p.Pro1297=)
c.3615C>G (p.Pro1205=)
c.3576C>G (p.Pro1192=)
c.3966C>G (p.Pro1322=)
c.3873C>G (p.Pro1291=)
c.3348C>G (p.Pro1116=)
c.3663C>G (p.Pro1221=)
n.8235C>G
 gnomAD v4
3g.9475614C>TCA432528651SETD5n.2807C>T
c.3948C>T (p.Pro1316=)
n.4841C>T
n.2232C>T
n.6649C>T
n.6094C>T
c.3852C>T (p.Pro1284=)
c.*3998C>T (n.*3998C>T)
c.*3921C>T (n.*3921C>T)
c.*4226C>T (n.*4226C>T)
c.*3957C>T (n.*3957C>T)
c.3558C>T (p.Pro1186=)
c.2722+458C>T
c.3909C>T (p.Pro1303=)
c.2888C>T
n.983C>T
n.3193C>T
n.239C>T
n.4016C>T
c.4026C>T (p.Pro1342=)
c.4005C>T (p.Pro1335=)
c.3987C>T (p.Pro1329=)
c.3969C>T (p.Pro1323=)
c.3930C>T (p.Pro1310=)
c.3891C>T (p.Pro1297=)
c.3615C>T (p.Pro1205=)
c.3576C>T (p.Pro1192=)
c.3966C>T (p.Pro1322=)
c.3873C>T (p.Pro1291=)
c.3348C>T (p.Pro1116=)
c.3663C>T (p.Pro1221=)
n.8235C>T
3g.9475615C>ACA2239814SETD5n.2808C>A
c.3949C>A (p.Pro1317Thr)
n.4842C>A
n.2233C>A
n.6650C>A
n.6095C>A
c.3853C>A (p.Pro1285Thr)
c.*3999C>A (n.*3999C>A)
c.*3922C>A (n.*3922C>A)
c.*4227C>A (n.*4227C>A)
c.*3958C>A (n.*3958C>A)
c.3559C>A (p.Pro1187Thr)
c.2722+459C>A
c.3910C>A (p.Pro1304Thr)
c.2889C>A
n.984C>A
n.3194C>A
n.240C>A
n.4017C>A
c.4027C>A (p.Pro1343Thr)
c.4006C>A (p.Pro1336Thr)
c.3988C>A (p.Pro1330Thr)
c.3970C>A (p.Pro1324Thr)
c.3931C>A (p.Pro1311Thr)
c.3892C>A (p.Pro1298Thr)
c.3616C>A (p.Pro1206Thr)
c.3577C>A (p.Pro1193Thr)
c.3967C>A (p.Pro1323Thr)
c.3874C>A (p.Pro1292Thr)
c.3349C>A (p.Pro1117Thr)
c.3664C>A (p.Pro1222Thr)
n.8236C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.9475615C=CA1344742490SETD5n.2808C=
c.3949C= (p.Pro1317=)
n.4842C=
n.2233C=
n.6650C=
n.6095C=
c.3853C= (p.Pro1285=)
c.*3999C= (n.*3999C=)
c.*3922C= (n.*3922C=)
c.*4227C= (n.*4227C=)
c.*3958C= (n.*3958C=)
c.3559C= (p.Pro1187=)
c.2722+459C=
c.3910C= (p.Pro1304=)
c.2889C=
n.984C=
n.3194C=
n.240C=
n.4017C=
c.4027C= (p.Pro1343=)
c.4006C= (p.Pro1336=)
c.3988C= (p.Pro1330=)
c.3970C= (p.Pro1324=)
c.3931C= (p.Pro1311=)
c.3892C= (p.Pro1298=)
c.3616C= (p.Pro1206=)
c.3577C= (p.Pro1193=)
c.3967C= (p.Pro1323=)
c.3874C= (p.Pro1292=)
c.3349C= (p.Pro1117=)
c.3664C= (p.Pro1222=)
n.8236C=
3g.9475615C>GCA2239815SETD5n.2808C>G
c.3949C>G (p.Pro1317Ala)
n.4842C>G
n.2233C>G
n.6650C>G
n.6095C>G
c.3853C>G (p.Pro1285Ala)
c.*3999C>G (n.*3999C>G)
c.*3922C>G (n.*3922C>G)
c.*4227C>G (n.*4227C>G)
c.*3958C>G (n.*3958C>G)
c.3559C>G (p.Pro1187Ala)
c.2722+459C>G
c.3910C>G (p.Pro1304Ala)
c.2889C>G
n.984C>G
n.3194C>G
n.240C>G
n.4017C>G
c.4027C>G (p.Pro1343Ala)
c.4006C>G (p.Pro1336Ala)
c.3988C>G (p.Pro1330Ala)
c.3970C>G (p.Pro1324Ala)
c.3931C>G (p.Pro1311Ala)
c.3892C>G (p.Pro1298Ala)
c.3616C>G (p.Pro1206Ala)
c.3577C>G (p.Pro1193Ala)
c.3967C>G (p.Pro1323Ala)
c.3874C>G (p.Pro1292Ala)
c.3349C>G (p.Pro1117Ala)
c.3664C>G (p.Pro1222Ala)
n.8236C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475615C>TCA2239816SETD5n.2808C>T
c.3949C>T (p.Pro1317Ser)
n.4842C>T
n.2233C>T
n.6650C>T
n.6095C>T
c.3853C>T (p.Pro1285Ser)
c.*3999C>T (n.*3999C>T)
c.*3922C>T (n.*3922C>T)
c.*4227C>T (n.*4227C>T)
c.*3958C>T (n.*3958C>T)
c.3559C>T (p.Pro1187Ser)
c.2722+459C>T
c.3910C>T (p.Pro1304Ser)
c.2889C>T
n.984C>T
n.3194C>T
n.240C>T
n.4017C>T
c.4027C>T (p.Pro1343Ser)
c.4006C>T (p.Pro1336Ser)
c.3988C>T (p.Pro1330Ser)
c.3970C>T (p.Pro1324Ser)
c.3931C>T (p.Pro1311Ser)
c.3892C>T (p.Pro1298Ser)
c.3616C>T (p.Pro1206Ser)
c.3577C>T (p.Pro1193Ser)
c.3967C>T (p.Pro1323Ser)
c.3874C>T (p.Pro1292Ser)
c.3349C>T (p.Pro1117Ser)
c.3664C>T (p.Pro1222Ser)
n.8236C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475616C>ACA351691621SETD5n.2809C>A
c.3950C>A (p.Pro1317His)
n.4843C>A
n.2234C>A
n.6651C>A
n.6096C>A
c.3854C>A (p.Pro1285His)
c.*4000C>A (n.*4000C>A)
c.*3923C>A (n.*3923C>A)
c.*4228C>A (n.*4228C>A)
c.*3959C>A (n.*3959C>A)
c.3560C>A (p.Pro1187His)
c.2722+460C>A
c.3911C>A (p.Pro1304His)
c.2890C>A
n.985C>A
n.3195C>A
n.241C>A
n.4018C>A
c.4028C>A (p.Pro1343His)
c.4007C>A (p.Pro1336His)
c.3989C>A (p.Pro1330His)
c.3971C>A (p.Pro1324His)
c.3932C>A (p.Pro1311His)
c.3893C>A (p.Pro1298His)
c.3617C>A (p.Pro1206His)
c.3578C>A (p.Pro1193His)
c.3968C>A (p.Pro1323His)
c.3875C>A (p.Pro1292His)
c.3350C>A (p.Pro1117His)
c.3665C>A (p.Pro1222His)
n.8237C>A
 ClinVar dbSNP gnomAD v4
3g.9475616C=CA1344742494SETD5n.2809C=
c.3950C= (p.Pro1317=)
n.4843C=
n.2234C=
n.6651C=
n.6096C=
c.3854C= (p.Pro1285=)
c.*4000C= (n.*4000C=)
c.*3923C= (n.*3923C=)
c.*4228C= (n.*4228C=)
c.*3959C= (n.*3959C=)
c.3560C= (p.Pro1187=)
c.2722+460C=
c.3911C= (p.Pro1304=)
c.2890C=
n.985C=
n.3195C=
n.241C=
n.4018C=
c.4028C= (p.Pro1343=)
c.4007C= (p.Pro1336=)
c.3989C= (p.Pro1330=)
c.3971C= (p.Pro1324=)
c.3932C= (p.Pro1311=)
c.3893C= (p.Pro1298=)
c.3617C= (p.Pro1206=)
c.3578C= (p.Pro1193=)
c.3968C= (p.Pro1323=)
c.3875C= (p.Pro1292=)
c.3350C= (p.Pro1117=)
c.3665C= (p.Pro1222=)
n.8237C=
3g.9475616C>GCA2239817SETD5n.2809C>G
c.3950C>G (p.Pro1317Arg)
n.4843C>G
n.2234C>G
n.6651C>G
n.6096C>G
c.3854C>G (p.Pro1285Arg)
c.*4000C>G (n.*4000C>G)
c.*3923C>G (n.*3923C>G)
c.*4228C>G (n.*4228C>G)
c.*3959C>G (n.*3959C>G)
c.3560C>G (p.Pro1187Arg)
c.2722+460C>G
c.3911C>G (p.Pro1304Arg)
c.2890C>G
n.985C>G
n.3195C>G
n.241C>G
n.4018C>G
c.4028C>G (p.Pro1343Arg)
c.4007C>G (p.Pro1336Arg)
c.3989C>G (p.Pro1330Arg)
c.3971C>G (p.Pro1324Arg)
c.3932C>G (p.Pro1311Arg)
c.3893C>G (p.Pro1298Arg)
c.3617C>G (p.Pro1206Arg)
c.3578C>G (p.Pro1193Arg)
c.3968C>G (p.Pro1323Arg)
c.3875C>G (p.Pro1292Arg)
c.3350C>G (p.Pro1117Arg)
c.3665C>G (p.Pro1222Arg)
n.8237C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475616C>TCA351691641SETD5n.2809C>T
c.3950C>T (p.Pro1317Leu)
n.4843C>T
n.2234C>T
n.6651C>T
n.6096C>T
c.3854C>T (p.Pro1285Leu)
c.*4000C>T (n.*4000C>T)
c.*3923C>T (n.*3923C>T)
c.*4228C>T (n.*4228C>T)
c.*3959C>T (n.*3959C>T)
c.3560C>T (p.Pro1187Leu)
c.2722+460C>T
c.3911C>T (p.Pro1304Leu)
c.2890C>T
n.985C>T
n.3195C>T
n.241C>T
n.4018C>T
c.4028C>T (p.Pro1343Leu)
c.4007C>T (p.Pro1336Leu)
c.3989C>T (p.Pro1330Leu)
c.3971C>T (p.Pro1324Leu)
c.3932C>T (p.Pro1311Leu)
c.3893C>T (p.Pro1298Leu)
c.3617C>T (p.Pro1206Leu)
c.3578C>T (p.Pro1193Leu)
c.3968C>T (p.Pro1323Leu)
c.3875C>T (p.Pro1292Leu)
c.3350C>T (p.Pro1117Leu)
c.3665C>T (p.Pro1222Leu)
n.8237C>T
3g.9475616_9475618delinsCCTCA1344742495SETD5n.2809_2811delinsCCT
c.3950_3952delinsCCT (p.Pro1317=)
n.4843_4845delinsCCT
n.2234_2236delinsCCT
n.6651_6653delinsCCT
n.6096_6098delinsCCT
c.3854_3856delinsCCT (p.Pro1285=)
c.*4000_*4002delinsCCT (n.*4000_*4002delinsCCT)
c.*3923_*3925delinsCCT (n.*3923_*3925delinsCCT)
c.*4228_*4230delinsCCT (n.*4228_*4230delinsCCT)
c.*3959_*3961delinsCCT (n.*3959_*3961delinsCCT)
c.3560_3562delinsCCT (p.Pro1187=)
c.2722+460_2722+462delinsCCT
c.3911_3913delinsCCT (p.Pro1304=)
c.2890_2892delinsCCT
n.985_987delinsCCT
n.3195_3197delinsCCT
n.241_243delinsCCT
n.4018_4020delinsCCT
c.4028_4030delinsCCT (p.Pro1343=)
c.4007_4009delinsCCT (p.Pro1336=)
c.3989_3991delinsCCT (p.Pro1330=)
c.3971_3973delinsCCT (p.Pro1324=)
c.3932_3934delinsCCT (p.Pro1311=)
c.3893_3895delinsCCT (p.Pro1298=)
c.3617_3619delinsCCT (p.Pro1206=)
c.3578_3580delinsCCT (p.Pro1193=)
c.3968_3970delinsCCT (p.Pro1323=)
c.3875_3877delinsCCT (p.Pro1292=)
c.3350_3352delinsCCT (p.Pro1117=)
c.3665_3667delinsCCT (p.Pro1222=)
n.8237_8239delinsCCT
3g.9475617C>ACA69951935SETD5n.2810C>A
c.3951C>A (p.Pro1317=)
n.4844C>A
n.2235C>A
n.6652C>A
n.6097C>A
c.3855C>A (p.Pro1285=)
c.*4001C>A (n.*4001C>A)
c.*3924C>A (n.*3924C>A)
c.*4229C>A (n.*4229C>A)
c.*3960C>A (n.*3960C>A)
c.3561C>A (p.Pro1187=)
c.2722+461C>A
c.3912C>A (p.Pro1304=)
c.2891C>A
n.986C>A
n.3196C>A
n.242C>A
n.4019C>A
c.4029C>A (p.Pro1343=)
c.4008C>A (p.Pro1336=)
c.3990C>A (p.Pro1330=)
c.3972C>A (p.Pro1324=)
c.3933C>A (p.Pro1311=)
c.3894C>A (p.Pro1298=)
c.3618C>A (p.Pro1206=)
c.3579C>A (p.Pro1193=)
c.3969C>A (p.Pro1323=)
c.3876C>A (p.Pro1292=)
c.3351C>A (p.Pro1117=)
c.3666C>A (p.Pro1222=)
n.8238C>A
 dbSNP gnomAD v4
3g.9475617C=CA1344742503SETD5n.2810C=
c.3951C= (p.Pro1317=)
n.4844C=
n.2235C=
n.6652C=
n.6097C=
c.3855C= (p.Pro1285=)
c.*4001C= (n.*4001C=)
c.*3924C= (n.*3924C=)
c.*4229C= (n.*4229C=)
c.*3960C= (n.*3960C=)
c.3561C= (p.Pro1187=)
c.2722+461C=
c.3912C= (p.Pro1304=)
c.2891C=
n.986C=
n.3196C=
n.242C=
n.4019C=
c.4029C= (p.Pro1343=)
c.4008C= (p.Pro1336=)
c.3990C= (p.Pro1330=)
c.3972C= (p.Pro1324=)
c.3933C= (p.Pro1311=)
c.3894C= (p.Pro1298=)
c.3618C= (p.Pro1206=)
c.3579C= (p.Pro1193=)
c.3969C= (p.Pro1323=)
c.3876C= (p.Pro1292=)
c.3351C= (p.Pro1117=)
c.3666C= (p.Pro1222=)
n.8238C=
3g.9475617C>GCA2239819SETD5n.2810C>G
c.3951C>G (p.Pro1317=)
n.4844C>G
n.2235C>G
n.6652C>G
n.6097C>G
c.3855C>G (p.Pro1285=)
c.*4001C>G (n.*4001C>G)
c.*3924C>G (n.*3924C>G)
c.*4229C>G (n.*4229C>G)
c.*3960C>G (n.*3960C>G)
c.3561C>G (p.Pro1187=)
c.2722+461C>G
c.3912C>G (p.Pro1304=)
c.2891C>G
n.986C>G
n.3196C>G
n.242C>G
n.4019C>G
c.4029C>G (p.Pro1343=)
c.4008C>G (p.Pro1336=)
c.3990C>G (p.Pro1330=)
c.3972C>G (p.Pro1324=)
c.3933C>G (p.Pro1311=)
c.3894C>G (p.Pro1298=)
c.3618C>G (p.Pro1206=)
c.3579C>G (p.Pro1193=)
c.3969C>G (p.Pro1323=)
c.3876C>G (p.Pro1292=)
c.3351C>G (p.Pro1117=)
c.3666C>G (p.Pro1222=)
n.8238C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475617C>TCA2239818SETD5n.2810C>T
c.3951C>T (p.Pro1317=)
n.4844C>T
n.2235C>T
n.6652C>T
n.6097C>T
c.3855C>T (p.Pro1285=)
c.*4001C>T (n.*4001C>T)
c.*3924C>T (n.*3924C>T)
c.*4229C>T (n.*4229C>T)
c.*3960C>T (n.*3960C>T)
c.3561C>T (p.Pro1187=)
c.2722+461C>T
c.3912C>T (p.Pro1304=)
c.2891C>T
n.986C>T
n.3196C>T
n.242C>T
n.4019C>T
c.4029C>T (p.Pro1343=)
c.4008C>T (p.Pro1336=)
c.3990C>T (p.Pro1330=)
c.3972C>T (p.Pro1324=)
c.3933C>T (p.Pro1311=)
c.3894C>T (p.Pro1298=)
c.3618C>T (p.Pro1206=)
c.3579C>T (p.Pro1193=)
c.3969C>T (p.Pro1323=)
c.3876C>T (p.Pro1292=)
c.3351C>T (p.Pro1117=)
c.3666C>T (p.Pro1222=)
n.8238C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475617_9475618delinsCTCA1344742507SETD5n.2810_2811delinsCT
c.3951_3952delinsCT (p.Pro1317=)
n.4844_4845delinsCT
n.2235_2236delinsCT
n.6652_6653delinsCT
n.6097_6098delinsCT
c.3855_3856delinsCT (p.Pro1285=)
c.*4001_*4002delinsCT (n.*4001_*4002delinsCT)
c.*3924_*3925delinsCT (n.*3924_*3925delinsCT)
c.*4229_*4230delinsCT (n.*4229_*4230delinsCT)
c.*3960_*3961delinsCT (n.*3960_*3961delinsCT)
c.3561_3562delinsCT (p.Pro1187=)
c.2722+461_2722+462delinsCT
c.3912_3913delinsCT (p.Pro1304=)
c.2891_2892delinsCT
n.986_987delinsCT
n.3196_3197delinsCT
n.242_243delinsCT
n.4019_4020delinsCT
c.4029_4030delinsCT (p.Pro1343=)
c.4008_4009delinsCT (p.Pro1336=)
c.3990_3991delinsCT (p.Pro1330=)
c.3972_3973delinsCT (p.Pro1324=)
c.3933_3934delinsCT (p.Pro1311=)
c.3894_3895delinsCT (p.Pro1298=)
c.3618_3619delinsCT (p.Pro1206=)
c.3579_3580delinsCT (p.Pro1193=)
c.3969_3970delinsCT (p.Pro1323=)
c.3876_3877delinsCT (p.Pro1292=)
c.3351_3352delinsCT (p.Pro1117=)
c.3666_3667delinsCT (p.Pro1222=)
n.8238_8239delinsCT
3g.9475620_9475621delCA1139657878SETD5n.2813_2814del
c.3954_3955del (p.His1319ArgfsTer?)
n.4847_4848del
n.2238_2239del
n.6655_6656del
n.6100_6101del
c.3858_3859del (p.His1287ArgfsTer?)
c.*4004_*4005del (n.*4004_*4005del)
c.*3927_*3928del (n.*3927_*3928del)
c.*4232_*4233del (n.*4232_*4233del)
c.*3963_*3964del (n.*3963_*3964del)
c.3564_3565del (p.His1189ArgfsTer?)
c.2722+464_2722+465del
c.3915_3916del (p.His1306ArgfsTer?)
c.2894_2895del
n.989_990del
n.3199_3200del
n.245_246del
n.4022_4023del
c.4032_4033del (p.His1345ArgfsTer?)
c.4011_4012del (p.His1338ArgfsTer?)
c.3993_3994del (p.His1332ArgfsTer?)
c.3975_3976del (p.His1326ArgfsTer?)
c.3936_3937del (p.His1313ArgfsTer?)
c.3897_3898del (p.His1300ArgfsTer?)
c.3621_3622del (p.His1208ArgfsTer?)
c.3582_3583del (p.His1195ArgfsTer?)
c.3972_3973del (p.His1325ArgfsTer?)
c.3879_3880del (p.His1294ArgfsTer?)
c.3354_3355del (p.His1119ArgfsTer?)
c.3669_3670del (p.His1224ArgfsTer?)
n.8241_8242del
 ClinVar dbSNP
3g.9475618delCA251338SETD5n.2811del
c.3952del (p.Ser1318LeufsTer?)
n.4845del
n.2236del
n.6653del
n.6098del
c.3856del (p.Ser1286LeufsTer?)
c.*4002del (n.*4002del)
c.*3925del (n.*3925del)
c.*4230del (n.*4230del)
c.*3961del (n.*3961del)
c.3562del (p.Ser1188LeufsTer?)
c.2722+462del
c.3913del (p.Ser1305LeufsTer?)
c.2892del
n.987del
n.3197del
n.243del
n.4020del
c.4030del (p.Ser1344LeufsTer?)
c.4009del (p.Ser1337LeufsTer?)
c.3991del (p.Ser1331LeufsTer?)
c.3973del (p.Ser1325LeufsTer?)
c.3934del (p.Ser1312LeufsTer?)
c.3895del (p.Ser1299LeufsTer?)
c.3619del (p.Ser1207LeufsTer?)
c.3580del (p.Ser1194LeufsTer?)
c.3970del (p.Ser1324LeufsTer?)
c.3877del (p.Ser1293LeufsTer?)
c.3352del (p.Ser1118LeufsTer?)
c.3667del (p.Ser1223LeufsTer?)
n.8239del
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.9475618T>ACA351691658SETD5n.2811T>A
c.3952T>A (p.Ser1318Thr)
n.4845T>A
n.2236T>A
n.6653T>A
n.6098T>A
c.3856T>A (p.Ser1286Thr)
c.*4002T>A (n.*4002T>A)
c.*3925T>A (n.*3925T>A)
c.*4230T>A (n.*4230T>A)
c.*3961T>A (n.*3961T>A)
c.3562T>A (p.Ser1188Thr)
c.2722+462T>A
c.3913T>A (p.Ser1305Thr)
c.2892T>A
n.987T>A
n.3197T>A
n.243T>A
n.4020T>A
c.4030T>A (p.Ser1344Thr)
c.4009T>A (p.Ser1337Thr)
c.3991T>A (p.Ser1331Thr)
c.3973T>A (p.Ser1325Thr)
c.3934T>A (p.Ser1312Thr)
c.3895T>A (p.Ser1299Thr)
c.3619T>A (p.Ser1207Thr)
c.3580T>A (p.Ser1194Thr)
c.3970T>A (p.Ser1324Thr)
c.3877T>A (p.Ser1293Thr)
c.3352T>A (p.Ser1118Thr)
c.3667T>A (p.Ser1223Thr)
n.8239T>A
3g.9475618T>CCA351691676SETD5n.2811T>C
c.3952T>C (p.Ser1318Pro)
n.4845T>C
n.2236T>C
n.6653T>C
n.6098T>C
c.3856T>C (p.Ser1286Pro)
c.*4002T>C (n.*4002T>C)
c.*3925T>C (n.*3925T>C)
c.*4230T>C (n.*4230T>C)
c.*3961T>C (n.*3961T>C)
c.3562T>C (p.Ser1188Pro)
c.2722+462T>C
c.3913T>C (p.Ser1305Pro)
c.2892T>C
n.987T>C
n.3197T>C
n.243T>C
n.4020T>C
c.4030T>C (p.Ser1344Pro)
c.4009T>C (p.Ser1337Pro)
c.3991T>C (p.Ser1331Pro)
c.3973T>C (p.Ser1325Pro)
c.3934T>C (p.Ser1312Pro)
c.3895T>C (p.Ser1299Pro)
c.3619T>C (p.Ser1207Pro)
c.3580T>C (p.Ser1194Pro)
c.3970T>C (p.Ser1324Pro)
c.3877T>C (p.Ser1293Pro)
c.3352T>C (p.Ser1118Pro)
c.3667T>C (p.Ser1223Pro)
n.8239T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.9475618T>GCA351691693SETD5n.2811T>G
c.3952T>G (p.Ser1318Ala)
n.4845T>G
n.2236T>G
n.6653T>G
n.6098T>G
c.3856T>G (p.Ser1286Ala)
c.*4002T>G (n.*4002T>G)
c.*3925T>G (n.*3925T>G)
c.*4230T>G (n.*4230T>G)
c.*3961T>G (n.*3961T>G)
c.3562T>G (p.Ser1188Ala)
c.2722+462T>G
c.3913T>G (p.Ser1305Ala)
c.2892T>G
n.987T>G
n.3197T>G
n.243T>G
n.4020T>G
c.4030T>G (p.Ser1344Ala)
c.4009T>G (p.Ser1337Ala)
c.3991T>G (p.Ser1331Ala)
c.3973T>G (p.Ser1325Ala)
c.3934T>G (p.Ser1312Ala)
c.3895T>G (p.Ser1299Ala)
c.3619T>G (p.Ser1207Ala)
c.3580T>G (p.Ser1194Ala)
c.3970T>G (p.Ser1324Ala)
c.3877T>G (p.Ser1293Ala)
c.3352T>G (p.Ser1118Ala)
c.3667T>G (p.Ser1223Ala)
n.8239T>G
3g.9475618T=CA1344742513SETD5n.2811T=
c.3952T= (p.Ser1318=)
n.4845T=
n.2236T=
n.6653T=
n.6098T=
c.3856T= (p.Ser1286=)
c.*4002T= (n.*4002T=)
c.*3925T= (n.*3925T=)
c.*4230T= (n.*4230T=)
c.*3961T= (n.*3961T=)
c.3562T= (p.Ser1188=)
c.2722+462T=
c.3913T= (p.Ser1305=)
c.2892T=
n.987T=
n.3197T=
n.243T=
n.4020T=
c.4030T= (p.Ser1344=)
c.4009T= (p.Ser1337=)
c.3991T= (p.Ser1331=)
c.3973T= (p.Ser1325=)
c.3934T= (p.Ser1312=)
c.3895T= (p.Ser1299=)
c.3619T= (p.Ser1207=)
c.3580T= (p.Ser1194=)
c.3970T= (p.Ser1324=)
c.3877T= (p.Ser1293=)
c.3352T= (p.Ser1118=)
c.3667T= (p.Ser1223=)
n.8239T=
3g.9475619C>ACA351691704SETD5n.2812C>A
c.3953C>A (p.Ser1318Tyr)
n.4846C>A
n.2237C>A
n.6654C>A
n.6099C>A
c.3857C>A (p.Ser1286Tyr)
c.*4003C>A (n.*4003C>A)
c.*3926C>A (n.*3926C>A)
c.*4231C>A (n.*4231C>A)
c.*3962C>A (n.*3962C>A)
c.3563C>A (p.Ser1188Tyr)
c.2722+463C>A
c.3914C>A (p.Ser1305Tyr)
c.2893C>A
n.988C>A
n.3198C>A
n.244C>A
n.4021C>A
c.4031C>A (p.Ser1344Tyr)
c.4010C>A (p.Ser1337Tyr)
c.3992C>A (p.Ser1331Tyr)
c.3974C>A (p.Ser1325Tyr)
c.3935C>A (p.Ser1312Tyr)
c.3896C>A (p.Ser1299Tyr)
c.3620C>A (p.Ser1207Tyr)
c.3581C>A (p.Ser1194Tyr)
c.3971C>A (p.Ser1324Tyr)
c.3878C>A (p.Ser1293Tyr)
c.3353C>A (p.Ser1118Tyr)
c.3668C>A (p.Ser1223Tyr)
n.8240C>A
3g.9475619C>GCA351691715SETD5n.2812C>G
c.3953C>G (p.Ser1318Cys)
n.4846C>G
n.2237C>G
n.6654C>G
n.6099C>G
c.3857C>G (p.Ser1286Cys)
c.*4003C>G (n.*4003C>G)
c.*3926C>G (n.*3926C>G)
c.*4231C>G (n.*4231C>G)
c.*3962C>G (n.*3962C>G)
c.3563C>G (p.Ser1188Cys)
c.2722+463C>G
c.3914C>G (p.Ser1305Cys)
c.2893C>G
n.988C>G
n.3198C>G
n.244C>G
n.4021C>G
c.4031C>G (p.Ser1344Cys)
c.4010C>G (p.Ser1337Cys)
c.3992C>G (p.Ser1331Cys)
c.3974C>G (p.Ser1325Cys)
c.3935C>G (p.Ser1312Cys)
c.3896C>G (p.Ser1299Cys)
c.3620C>G (p.Ser1207Cys)
c.3581C>G (p.Ser1194Cys)
c.3971C>G (p.Ser1324Cys)
c.3878C>G (p.Ser1293Cys)
c.3353C>G (p.Ser1118Cys)
c.3668C>G (p.Ser1223Cys)
n.8240C>G
3g.9475619C>TCA351691730SETD5n.2812C>T
c.3953C>T (p.Ser1318Phe)
n.4846C>T
n.2237C>T
n.6654C>T
n.6099C>T
c.3857C>T (p.Ser1286Phe)
c.*4003C>T (n.*4003C>T)
c.*3926C>T (n.*3926C>T)
c.*4231C>T (n.*4231C>T)
c.*3962C>T (n.*3962C>T)
c.3563C>T (p.Ser1188Phe)
c.2722+463C>T
c.3914C>T (p.Ser1305Phe)
c.2893C>T
n.988C>T
n.3198C>T
n.244C>T
n.4021C>T
c.4031C>T (p.Ser1344Phe)
c.4010C>T (p.Ser1337Phe)
c.3992C>T (p.Ser1331Phe)
c.3974C>T (p.Ser1325Phe)
c.3935C>T (p.Ser1312Phe)
c.3896C>T (p.Ser1299Phe)
c.3620C>T (p.Ser1207Phe)
c.3581C>T (p.Ser1194Phe)
c.3971C>T (p.Ser1324Phe)
c.3878C>T (p.Ser1293Phe)
c.3353C>T (p.Ser1118Phe)
c.3668C>T (p.Ser1223Phe)
n.8240C>T
3g.9475620T>ACA432528666SETD5n.2813T>A
c.3954T>A (p.Ser1318=)
n.4847T>A
n.2238T>A
n.6655T>A
n.6100T>A
c.3858T>A (p.Ser1286=)
c.*4004T>A (n.*4004T>A)
c.*3927T>A (n.*3927T>A)
c.*4232T>A (n.*4232T>A)
c.*3963T>A (n.*3963T>A)
c.3564T>A (p.Ser1188=)
c.2722+464T>A
c.3915T>A (p.Ser1305=)
c.2894T>A
n.989T>A
n.3199T>A
n.245T>A
n.4022T>A
c.4032T>A (p.Ser1344=)
c.4011T>A (p.Ser1337=)
c.3993T>A (p.Ser1331=)
c.3975T>A (p.Ser1325=)
c.3936T>A (p.Ser1312=)
c.3897T>A (p.Ser1299=)
c.3621T>A (p.Ser1207=)
c.3582T>A (p.Ser1194=)
c.3972T>A (p.Ser1324=)
c.3879T>A (p.Ser1293=)
c.3354T>A (p.Ser1118=)
c.3669T>A (p.Ser1223=)
n.8241T>A
3g.9475620T>CCA432528665SETD5n.2813T>C
c.3954T>C (p.Ser1318=)
n.4847T>C
n.2238T>C
n.6655T>C
n.6100T>C
c.3858T>C (p.Ser1286=)
c.*4004T>C (n.*4004T>C)
c.*3927T>C (n.*3927T>C)
c.*4232T>C (n.*4232T>C)
c.*3963T>C (n.*3963T>C)
c.3564T>C (p.Ser1188=)
c.2722+464T>C
c.3915T>C (p.Ser1305=)
c.2894T>C
n.989T>C
n.3199T>C
n.245T>C
n.4022T>C
c.4032T>C (p.Ser1344=)
c.4011T>C (p.Ser1337=)
c.3993T>C (p.Ser1331=)
c.3975T>C (p.Ser1325=)
c.3936T>C (p.Ser1312=)
c.3897T>C (p.Ser1299=)
c.3621T>C (p.Ser1207=)
c.3582T>C (p.Ser1194=)
c.3972T>C (p.Ser1324=)
c.3879T>C (p.Ser1293=)
c.3354T>C (p.Ser1118=)
c.3669T>C (p.Ser1223=)
n.8241T>C
3g.9475620T>GCA432528664SETD5n.2813T>G
c.3954T>G (p.Ser1318=)
n.4847T>G
n.2238T>G
n.6655T>G
n.6100T>G
c.3858T>G (p.Ser1286=)
c.*4004T>G (n.*4004T>G)
c.*3927T>G (n.*3927T>G)
c.*4232T>G (n.*4232T>G)
c.*3963T>G (n.*3963T>G)
c.3564T>G (p.Ser1188=)
c.2722+464T>G
c.3915T>G (p.Ser1305=)
c.2894T>G
n.989T>G
n.3199T>G
n.245T>G
n.4022T>G
c.4032T>G (p.Ser1344=)
c.4011T>G (p.Ser1337=)
c.3993T>G (p.Ser1331=)
c.3975T>G (p.Ser1325=)
c.3936T>G (p.Ser1312=)
c.3897T>G (p.Ser1299=)
c.3621T>G (p.Ser1207=)
c.3582T>G (p.Ser1194=)
c.3972T>G (p.Ser1324=)
c.3879T>G (p.Ser1293=)
c.3354T>G (p.Ser1118=)
c.3669T>G (p.Ser1223=)
n.8241T>G
3g.9475621C>ACA351691743SETD5n.2814C>A
c.3955C>A (p.His1319Asn)
n.4848C>A
n.2239C>A
n.6656C>A
n.6101C>A
c.3859C>A (p.His1287Asn)
c.*4005C>A (n.*4005C>A)
c.*3928C>A (n.*3928C>A)
c.*4233C>A (n.*4233C>A)
c.*3964C>A (n.*3964C>A)
c.3565C>A (p.His1189Asn)
c.2722+465C>A
c.3916C>A (p.His1306Asn)
c.2895C>A
n.990C>A
n.3200C>A
n.246C>A
n.4023C>A
c.4033C>A (p.His1345Asn)
c.4012C>A (p.His1338Asn)
c.3994C>A (p.His1332Asn)
c.3976C>A (p.His1326Asn)
c.3937C>A (p.His1313Asn)
c.3898C>A (p.His1300Asn)
c.3622C>A (p.His1208Asn)
c.3583C>A (p.His1195Asn)
c.3973C>A (p.His1325Asn)
c.3880C>A (p.His1294Asn)
c.3355C>A (p.His1119Asn)
c.3670C>A (p.His1224Asn)
n.8242C>A
3g.9475621C=CA1344742527SETD5n.2814C=
c.3955C= (p.His1319=)
n.4848C=
n.2239C=
n.6656C=
n.6101C=
c.3859C= (p.His1287=)
c.*4005C= (n.*4005C=)
c.*3928C= (n.*3928C=)
c.*4233C= (n.*4233C=)
c.*3964C= (n.*3964C=)
c.3565C= (p.His1189=)
c.2722+465C=
c.3916C= (p.His1306=)
c.2895C=
n.990C=
n.3200C=
n.246C=
n.4023C=
c.4033C= (p.His1345=)
c.4012C= (p.His1338=)
c.3994C= (p.His1332=)
c.3976C= (p.His1326=)
c.3937C= (p.His1313=)
c.3898C= (p.His1300=)
c.3622C= (p.His1208=)
c.3583C= (p.His1195=)
c.3973C= (p.His1325=)
c.3880C= (p.His1294=)
c.3355C= (p.His1119=)
c.3670C= (p.His1224=)
n.8242C=
3g.9475621C>GCA351691748SETD5n.2814C>G
c.3955C>G (p.His1319Asp)
n.4848C>G
n.2239C>G
n.6656C>G
n.6101C>G
c.3859C>G (p.His1287Asp)
c.*4005C>G (n.*4005C>G)
c.*3928C>G (n.*3928C>G)
c.*4233C>G (n.*4233C>G)
c.*3964C>G (n.*3964C>G)
c.3565C>G (p.His1189Asp)
c.2722+465C>G
c.3916C>G (p.His1306Asp)
c.2895C>G
n.990C>G
n.3200C>G
n.246C>G
n.4023C>G
c.4033C>G (p.His1345Asp)
c.4012C>G (p.His1338Asp)
c.3994C>G (p.His1332Asp)
c.3976C>G (p.His1326Asp)
c.3937C>G (p.His1313Asp)
c.3898C>G (p.His1300Asp)
c.3622C>G (p.His1208Asp)
c.3583C>G (p.His1195Asp)
c.3973C>G (p.His1325Asp)
c.3880C>G (p.His1294Asp)
c.3355C>G (p.His1119Asp)
c.3670C>G (p.His1224Asp)
n.8242C>G
3g.9475621C>TCA2239820SETD5n.2814C>T
c.3955C>T (p.His1319Tyr)
n.4848C>T
n.2239C>T
n.6656C>T
n.6101C>T
c.3859C>T (p.His1287Tyr)
c.*4005C>T (n.*4005C>T)
c.*3928C>T (n.*3928C>T)
c.*4233C>T (n.*4233C>T)
c.*3964C>T (n.*3964C>T)
c.3565C>T (p.His1189Tyr)
c.2722+465C>T
c.3916C>T (p.His1306Tyr)
c.2895C>T
n.990C>T
n.3200C>T
n.246C>T
n.4023C>T
c.4033C>T (p.His1345Tyr)
c.4012C>T (p.His1338Tyr)
c.3994C>T (p.His1332Tyr)
c.3976C>T (p.His1326Tyr)
c.3937C>T (p.His1313Tyr)
c.3898C>T (p.His1300Tyr)
c.3622C>T (p.His1208Tyr)
c.3583C>T (p.His1195Tyr)
c.3973C>T (p.His1325Tyr)
c.3880C>T (p.His1294Tyr)
c.3355C>T (p.His1119Tyr)
c.3670C>T (p.His1224Tyr)
n.8242C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
3g.9475622A>CCA351691761SETD5n.2815A>C
c.3956A>C (p.His1319Pro)
n.4849A>C
n.2240A>C
n.6657A>C
n.6102A>C
c.3860A>C (p.His1287Pro)
c.*4006A>C (n.*4006A>C)
c.*3929A>C (n.*3929A>C)
c.*4234A>C (n.*4234A>C)
c.*3965A>C (n.*3965A>C)
c.3566A>C (p.His1189Pro)
c.2722+466A>C
c.3917A>C (p.His1306Pro)
c.2896A>C
n.991A>C
n.3201A>C
n.247A>C
n.4024A>C
c.4034A>C (p.His1345Pro)
c.4013A>C (p.His1338Pro)
c.3995A>C (p.His1332Pro)
c.3977A>C (p.His1326Pro)
c.3938A>C (p.His1313Pro)
c.3899A>C (p.His1300Pro)
c.3623A>C (p.His1208Pro)
c.3584A>C (p.His1195Pro)
c.3974A>C (p.His1325Pro)
c.3881A>C (p.His1294Pro)
c.3356A>C (p.His1119Pro)
c.3671A>C (p.His1224Pro)
n.8243A>C
3g.9475622A>GCA351691762SETD5n.2815A>G
c.3956A>G (p.His1319Arg)
n.4849A>G
n.2240A>G
n.6657A>G
n.6102A>G
c.3860A>G (p.His1287Arg)
c.*4006A>G (n.*4006A>G)
c.*3929A>G (n.*3929A>G)
c.*4234A>G (n.*4234A>G)
c.*3965A>G (n.*3965A>G)
c.3566A>G (p.His1189Arg)
c.2722+466A>G
c.3917A>G (p.His1306Arg)
c.2896A>G
n.991A>G
n.3201A>G
n.247A>G
n.4024A>G
c.4034A>G (p.His1345Arg)
c.4013A>G (p.His1338Arg)
c.3995A>G (p.His1332Arg)
c.3977A>G (p.His1326Arg)
c.3938A>G (p.His1313Arg)
c.3899A>G (p.His1300Arg)
c.3623A>G (p.His1208Arg)
c.3584A>G (p.His1195Arg)
c.3974A>G (p.His1325Arg)
c.3881A>G (p.His1294Arg)
c.3356A>G (p.His1119Arg)
c.3671A>G (p.His1224Arg)
n.8243A>G
3g.9475622A>TCA351691767SETD5n.2815A>T
c.3956A>T (p.His1319Leu)
n.4849A>T
n.2240A>T
n.6657A>T
n.6102A>T
c.3860A>T (p.His1287Leu)
c.*4006A>T (n.*4006A>T)
c.*3929A>T (n.*3929A>T)
c.*4234A>T (n.*4234A>T)
c.*3965A>T (n.*3965A>T)
c.3566A>T (p.His1189Leu)
c.2722+466A>T
c.3917A>T (p.His1306Leu)
c.2896A>T
n.991A>T
n.3201A>T
n.247A>T
n.4024A>T
c.4034A>T (p.His1345Leu)
c.4013A>T (p.His1338Leu)
c.3995A>T (p.His1332Leu)
c.3977A>T (p.His1326Leu)
c.3938A>T (p.His1313Leu)
c.3899A>T (p.His1300Leu)
c.3623A>T (p.His1208Leu)
c.3584A>T (p.His1195Leu)
c.3974A>T (p.His1325Leu)
c.3881A>T (p.His1294Leu)
c.3356A>T (p.His1119Leu)
c.3671A>T (p.His1224Leu)
n.8243A>T
3g.9475623C>ACA351691768SETD5n.2816C>A
c.3957C>A (p.His1319Gln)
n.4850C>A
n.2241C>A
n.6658C>A
n.6103C>A
c.3861C>A (p.His1287Gln)
c.*4007C>A (n.*4007C>A)
c.*3930C>A (n.*3930C>A)
c.*4235C>A (n.*4235C>A)
c.*3966C>A (n.*3966C>A)
c.3567C>A (p.His1189Gln)
c.2722+467C>A
c.3918C>A (p.His1306Gln)
c.2897C>A
n.992C>A
n.3202C>A
n.248C>A
n.4025C>A
c.4035C>A (p.His1345Gln)
c.4014C>A (p.His1338Gln)
c.3996C>A (p.His1332Gln)
c.3978C>A (p.His1326Gln)
c.3939C>A (p.His1313Gln)
c.3900C>A (p.His1300Gln)
c.3624C>A (p.His1208Gln)
c.3585C>A (p.His1195Gln)
c.3975C>A (p.His1325Gln)
c.3882C>A (p.His1294Gln)
c.3357C>A (p.His1119Gln)
c.3672C>A (p.His1224Gln)
n.8244C>A
3g.9475623C=CA1344742531SETD5n.2816C=
c.3957C= (p.His1319=)
n.4850C=
n.2241C=
n.6658C=
n.6103C=
c.3861C= (p.His1287=)
c.*4007C= (n.*4007C=)
c.*3930C= (n.*3930C=)
c.*4235C= (n.*4235C=)
c.*3966C= (n.*3966C=)
c.3567C= (p.His1189=)
c.2722+467C=
c.3918C= (p.His1306=)
c.2897C=
n.992C=
n.3202C=
n.248C=
n.4025C=
c.4035C= (p.His1345=)
c.4014C= (p.His1338=)
c.3996C= (p.His1332=)
c.3978C= (p.His1326=)
c.3939C= (p.His1313=)
c.3900C= (p.His1300=)
c.3624C= (p.His1208=)
c.3585C= (p.His1195=)
c.3975C= (p.His1325=)
c.3882C= (p.His1294=)
c.3357C= (p.His1119=)
c.3672C= (p.His1224=)
n.8244C=
3g.9475623C>GCA351691770SETD5n.2816C>G
c.3957C>G (p.His1319Gln)
n.4850C>G
n.2241C>G
n.6658C>G
n.6103C>G
c.3861C>G (p.His1287Gln)
c.*4007C>G (n.*4007C>G)
c.*3930C>G (n.*3930C>G)
c.*4235C>G (n.*4235C>G)
c.*3966C>G (n.*3966C>G)
c.3567C>G (p.His1189Gln)
c.2722+467C>G
c.3918C>G (p.His1306Gln)
c.2897C>G
n.992C>G
n.3202C>G
n.248C>G
n.4025C>G
c.4035C>G (p.His1345Gln)
c.4014C>G (p.His1338Gln)
c.3996C>G (p.His1332Gln)
c.3978C>G (p.His1326Gln)
c.3939C>G (p.His1313Gln)
c.3900C>G (p.His1300Gln)
c.3624C>G (p.His1208Gln)
c.3585C>G (p.His1195Gln)
c.3975C>G (p.His1325Gln)
c.3882C>G (p.His1294Gln)
c.3357C>G (p.His1119Gln)
c.3672C>G (p.His1224Gln)
n.8244C>G
 gnomAD v4
3g.9475623C>TCA69951944SETD5n.2816C>T
c.3957C>T (p.His1319=)
n.4850C>T
n.2241C>T
n.6658C>T
n.6103C>T
c.3861C>T (p.His1287=)
c.*4007C>T (n.*4007C>T)
c.*3930C>T (n.*3930C>T)
c.*4235C>T (n.*4235C>T)
c.*3966C>T (n.*3966C>T)
c.3567C>T (p.His1189=)
c.2722+467C>T
c.3918C>T (p.His1306=)
c.2897C>T
n.992C>T
n.3202C>T
n.248C>T
n.4025C>T
c.4035C>T (p.His1345=)
c.4014C>T (p.His1338=)
c.3996C>T (p.His1332=)
c.3978C>T (p.His1326=)
c.3939C>T (p.His1313=)
c.3900C>T (p.His1300=)
c.3624C>T (p.His1208=)
c.3585C>T (p.His1195=)
c.3975C>T (p.His1325=)
c.3882C>T (p.His1294=)
c.3357C>T (p.His1119=)
c.3672C>T (p.His1224=)
n.8244C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.9475624G>ACA2239821SETD5n.2817G>A
c.3958G>A (p.Gly1320Ser)
n.4851G>A
n.2242G>A
n.6659G>A
n.6104G>A
c.3862G>A (p.Gly1288Ser)
c.*4008G>A (n.*4008G>A)
c.*3931G>A (n.*3931G>A)
c.*4236G>A (n.*4236G>A)
c.*3967G>A (n.*3967G>A)
c.3568G>A (p.Gly1190Ser)
c.2722+468G>A
c.3919G>A (p.Gly1307Ser)
c.2898G>A
n.993G>A
n.3203G>A
n.249G>A
n.4026G>A
c.4036G>A (p.Gly1346Ser)
c.4015G>A (p.Gly1339Ser)
c.3997G>A (p.Gly1333Ser)
c.3979G>A (p.Gly1327Ser)
c.3940G>A (p.Gly1314Ser)
c.3901G>A (p.Gly1301Ser)
c.3625G>A (p.Gly1209Ser)
c.3586G>A (p.Gly1196Ser)
c.3976G>A (p.Gly1326Ser)
c.3883G>A (p.Gly1295Ser)
c.3358G>A (p.Gly1120Ser)
c.3673G>A (p.Gly1225Ser)
n.8245G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475624G>CCA351691774SETD5n.2817G>C
c.3958G>C (p.Gly1320Arg)
n.4851G>C
n.2242G>C
n.6659G>C
n.6104G>C
c.3862G>C (p.Gly1288Arg)
c.*4008G>C (n.*4008G>C)
c.*3931G>C (n.*3931G>C)
c.*4236G>C (n.*4236G>C)
c.*3967G>C (n.*3967G>C)
c.3568G>C (p.Gly1190Arg)
c.2722+468G>C
c.3919G>C (p.Gly1307Arg)
c.2898G>C
n.993G>C
n.3203G>C
n.249G>C
n.4026G>C
c.4036G>C (p.Gly1346Arg)
c.4015G>C (p.Gly1339Arg)
c.3997G>C (p.Gly1333Arg)
c.3979G>C (p.Gly1327Arg)
c.3940G>C (p.Gly1314Arg)
c.3901G>C (p.Gly1301Arg)
c.3625G>C (p.Gly1209Arg)
c.3586G>C (p.Gly1196Arg)
c.3976G>C (p.Gly1326Arg)
c.3883G>C (p.Gly1295Arg)
c.3358G>C (p.Gly1120Arg)
c.3673G>C (p.Gly1225Arg)
n.8245G>C
 gnomAD v4
3g.9475624G=CA1344742536SETD5n.2817G=
c.3958G= (p.Gly1320=)
n.4851G=
n.2242G=
n.6659G=
n.6104G=
c.3862G= (p.Gly1288=)
c.*4008G= (n.*4008G=)
c.*3931G= (n.*3931G=)
c.*4236G= (n.*4236G=)
c.*3967G= (n.*3967G=)
c.3568G= (p.Gly1190=)
c.2722+468G=
c.3919G= (p.Gly1307=)
c.2898G=
n.993G=
n.3203G=
n.249G=
n.4026G=
c.4036G= (p.Gly1346=)
c.4015G= (p.Gly1339=)
c.3997G= (p.Gly1333=)
c.3979G= (p.Gly1327=)
c.3940G= (p.Gly1314=)
c.3901G= (p.Gly1301=)
c.3625G= (p.Gly1209=)
c.3586G= (p.Gly1196=)
c.3976G= (p.Gly1326=)
c.3883G= (p.Gly1295=)
c.3358G= (p.Gly1120=)
c.3673G= (p.Gly1225=)
n.8245G=
3g.9475624G>TCA351691776SETD5n.2817G>T
c.3958G>T (p.Gly1320Cys)
n.4851G>T
n.2242G>T
n.6659G>T
n.6104G>T
c.3862G>T (p.Gly1288Cys)
c.*4008G>T (n.*4008G>T)
c.*3931G>T (n.*3931G>T)
c.*4236G>T (n.*4236G>T)
c.*3967G>T (n.*3967G>T)
c.3568G>T (p.Gly1190Cys)
c.2722+468G>T
c.3919G>T (p.Gly1307Cys)
c.2898G>T
n.993G>T
n.3203G>T
n.249G>T
n.4026G>T
c.4036G>T (p.Gly1346Cys)
c.4015G>T (p.Gly1339Cys)
c.3997G>T (p.Gly1333Cys)
c.3979G>T (p.Gly1327Cys)
c.3940G>T (p.Gly1314Cys)
c.3901G>T (p.Gly1301Cys)
c.3625G>T (p.Gly1209Cys)
c.3586G>T (p.Gly1196Cys)
c.3976G>T (p.Gly1326Cys)
c.3883G>T (p.Gly1295Cys)
c.3358G>T (p.Gly1120Cys)
c.3673G>T (p.Gly1225Cys)
n.8245G>T
 gnomAD v4
3g.9475625G>ACA351691788SETD5n.2818G>A
c.3959G>A (p.Gly1320Asp)
n.4852G>A
n.2243G>A
n.6660G>A
n.6105G>A
c.3863G>A (p.Gly1288Asp)
c.*4009G>A (n.*4009G>A)
c.*3932G>A (n.*3932G>A)
c.*4237G>A (n.*4237G>A)
c.*3968G>A (n.*3968G>A)
c.3569G>A (p.Gly1190Asp)
c.2722+469G>A
c.3920G>A (p.Gly1307Asp)
c.2899G>A
n.994G>A
n.3204G>A
n.250G>A
n.4027G>A
c.4037G>A (p.Gly1346Asp)
c.4016G>A (p.Gly1339Asp)
c.3998G>A (p.Gly1333Asp)
c.3980G>A (p.Gly1327Asp)
c.3941G>A (p.Gly1314Asp)
c.3902G>A (p.Gly1301Asp)
c.3626G>A (p.Gly1209Asp)
c.3587G>A (p.Gly1196Asp)
c.3977G>A (p.Gly1326Asp)
c.3884G>A (p.Gly1295Asp)
c.3359G>A (p.Gly1120Asp)
c.3674G>A (p.Gly1225Asp)
n.8246G>A
 dbSNP gnomAD v3 gnomAD v4
3g.9475625G>CCA351691789SETD5n.2818G>C
c.3959G>C (p.Gly1320Ala)
n.4852G>C
n.2243G>C
n.6660G>C
n.6105G>C
c.3863G>C (p.Gly1288Ala)
c.*4009G>C (n.*4009G>C)
c.*3932G>C (n.*3932G>C)
c.*4237G>C (n.*4237G>C)
c.*3968G>C (n.*3968G>C)
c.3569G>C (p.Gly1190Ala)
c.2722+469G>C
c.3920G>C (p.Gly1307Ala)
c.2899G>C
n.994G>C
n.3204G>C
n.250G>C
n.4027G>C
c.4037G>C (p.Gly1346Ala)
c.4016G>C (p.Gly1339Ala)
c.3998G>C (p.Gly1333Ala)
c.3980G>C (p.Gly1327Ala)
c.3941G>C (p.Gly1314Ala)
c.3902G>C (p.Gly1301Ala)
c.3626G>C (p.Gly1209Ala)
c.3587G>C (p.Gly1196Ala)
c.3977G>C (p.Gly1326Ala)
c.3884G>C (p.Gly1295Ala)
c.3359G>C (p.Gly1120Ala)
c.3674G>C (p.Gly1225Ala)
n.8246G>C
3g.9475625G=CA1344742541SETD5n.2818G=
c.3959G= (p.Gly1320=)
n.4852G=
n.2243G=
n.6660G=
n.6105G=
c.3863G= (p.Gly1288=)
c.*4009G= (n.*4009G=)
c.*3932G= (n.*3932G=)
c.*4237G= (n.*4237G=)
c.*3968G= (n.*3968G=)
c.3569G= (p.Gly1190=)
c.2722+469G=
c.3920G= (p.Gly1307=)
c.2899G=
n.994G=
n.3204G=
n.250G=
n.4027G=
c.4037G= (p.Gly1346=)
c.4016G= (p.Gly1339=)
c.3998G= (p.Gly1333=)
c.3980G= (p.Gly1327=)
c.3941G= (p.Gly1314=)
c.3902G= (p.Gly1301=)
c.3626G= (p.Gly1209=)
c.3587G= (p.Gly1196=)
c.3977G= (p.Gly1326=)
c.3884G= (p.Gly1295=)
c.3359G= (p.Gly1120=)
c.3674G= (p.Gly1225=)
n.8246G=
3g.9475625G>TCA351691790SETD5n.2818G>T
c.3959G>T (p.Gly1320Val)
n.4852G>T
n.2243G>T
n.6660G>T
n.6105G>T
c.3863G>T (p.Gly1288Val)
c.*4009G>T (n.*4009G>T)
c.*3932G>T (n.*3932G>T)
c.*4237G>T (n.*4237G>T)
c.*3968G>T (n.*3968G>T)
c.3569G>T (p.Gly1190Val)
c.2722+469G>T
c.3920G>T (p.Gly1307Val)
c.2899G>T
n.994G>T
n.3204G>T
n.250G>T
n.4027G>T
c.4037G>T (p.Gly1346Val)
c.4016G>T (p.Gly1339Val)
c.3998G>T (p.Gly1333Val)
c.3980G>T (p.Gly1327Val)
c.3941G>T (p.Gly1314Val)
c.3902G>T (p.Gly1301Val)
c.3626G>T (p.Gly1209Val)
c.3587G>T (p.Gly1196Val)
c.3977G>T (p.Gly1326Val)
c.3884G>T (p.Gly1295Val)
c.3359G>T (p.Gly1120Val)
c.3674G>T (p.Gly1225Val)
n.8246G>T
3g.9475626T>ACA432528690SETD5n.2819T>A
c.3960T>A (p.Gly1320=)
n.4853T>A
n.2244T>A
n.6661T>A
n.6106T>A
c.3864T>A (p.Gly1288=)
c.*4010T>A (n.*4010T>A)
c.*3933T>A (n.*3933T>A)
c.*4238T>A (n.*4238T>A)
c.*3969T>A (n.*3969T>A)
c.3570T>A (p.Gly1190=)
c.2722+470T>A
c.3921T>A (p.Gly1307=)
c.2900T>A
n.995T>A
n.3205T>A
n.251T>A
n.4028T>A
c.4038T>A (p.Gly1346=)
c.4017T>A (p.Gly1339=)
c.3999T>A (p.Gly1333=)
c.3981T>A (p.Gly1327=)
c.3942T>A (p.Gly1314=)
c.3903T>A (p.Gly1301=)
c.3627T>A (p.Gly1209=)
c.3588T>A (p.Gly1196=)
c.3978T>A (p.Gly1326=)
c.3885T>A (p.Gly1295=)
c.3360T>A (p.Gly1120=)
c.3675T>A (p.Gly1225=)
n.8247T>A
3g.9475626T>CCA432528688SETD5n.2819T>C
c.3960T>C (p.Gly1320=)
n.4853T>C
n.2244T>C
n.6661T>C
n.6106T>C
c.3864T>C (p.Gly1288=)
c.*4010T>C (n.*4010T>C)
c.*3933T>C (n.*3933T>C)
c.*4238T>C (n.*4238T>C)
c.*3969T>C (n.*3969T>C)
c.3570T>C (p.Gly1190=)
c.2722+470T>C
c.3921T>C (p.Gly1307=)
c.2900T>C
n.995T>C
n.3205T>C
n.251T>C
n.4028T>C
c.4038T>C (p.Gly1346=)
c.4017T>C (p.Gly1339=)
c.3999T>C (p.Gly1333=)
c.3981T>C (p.Gly1327=)
c.3942T>C (p.Gly1314=)
c.3903T>C (p.Gly1301=)
c.3627T>C (p.Gly1209=)
c.3588T>C (p.Gly1196=)
c.3978T>C (p.Gly1326=)
c.3885T>C (p.Gly1295=)
c.3360T>C (p.Gly1120=)
c.3675T>C (p.Gly1225=)
n.8247T>C
3g.9475626T>GCA432528689SETD5n.2819T>G
c.3960T>G (p.Gly1320=)
n.4853T>G
n.2244T>G
n.6661T>G
n.6106T>G
c.3864T>G (p.Gly1288=)
c.*4010T>G (n.*4010T>G)
c.*3933T>G (n.*3933T>G)
c.*4238T>G (n.*4238T>G)
c.*3969T>G (n.*3969T>G)
c.3570T>G (p.Gly1190=)
c.2722+470T>G
c.3921T>G (p.Gly1307=)
c.2900T>G
n.995T>G
n.3205T>G
n.251T>G
n.4028T>G
c.4038T>G (p.Gly1346=)
c.4017T>G (p.Gly1339=)
c.3999T>G (p.Gly1333=)
c.3981T>G (p.Gly1327=)
c.3942T>G (p.Gly1314=)
c.3903T>G (p.Gly1301=)
c.3627T>G (p.Gly1209=)
c.3588T>G (p.Gly1196=)
c.3978T>G (p.Gly1326=)
c.3885T>G (p.Gly1295=)
c.3360T>G (p.Gly1120=)
c.3675T>G (p.Gly1225=)
n.8247T>G
3g.9475627T>ACA351691801SETD5n.2820T>A
c.3961T>A (p.Ser1321Thr)
n.4854T>A
n.2245T>A
n.6662T>A
n.6107T>A
c.3865T>A (p.Ser1289Thr)
c.*4011T>A (n.*4011T>A)
c.*3934T>A (n.*3934T>A)
c.*4239T>A (n.*4239T>A)
c.*3970T>A (n.*3970T>A)
c.3571T>A (p.Ser1191Thr)
c.2722+471T>A
c.3922T>A (p.Ser1308Thr)
c.2901T>A
n.996T>A
n.3206T>A
n.252T>A
n.4029T>A
c.4039T>A (p.Ser1347Thr)
c.4018T>A (p.Ser1340Thr)
c.4000T>A (p.Ser1334Thr)
c.3982T>A (p.Ser1328Thr)
c.3943T>A (p.Ser1315Thr)
c.3904T>A (p.Ser1302Thr)
c.3628T>A (p.Ser1210Thr)
c.3589T>A (p.Ser1197Thr)
c.3979T>A (p.Ser1327Thr)
c.3886T>A (p.Ser1296Thr)
c.3361T>A (p.Ser1121Thr)
c.3676T>A (p.Ser1226Thr)
n.8248T>A
3g.9475627T>CCA351691798SETD5n.2820T>C
c.3961T>C (p.Ser1321Pro)
n.4854T>C
n.2245T>C
n.6662T>C
n.6107T>C
c.3865T>C (p.Ser1289Pro)
c.*4011T>C (n.*4011T>C)
c.*3934T>C (n.*3934T>C)
c.*4239T>C (n.*4239T>C)
c.*3970T>C (n.*3970T>C)
c.3571T>C (p.Ser1191Pro)
c.2722+471T>C
c.3922T>C (p.Ser1308Pro)
c.2901T>C
n.996T>C
n.3206T>C
n.252T>C
n.4029T>C
c.4039T>C (p.Ser1347Pro)
c.4018T>C (p.Ser1340Pro)
c.4000T>C (p.Ser1334Pro)
c.3982T>C (p.Ser1328Pro)
c.3943T>C (p.Ser1315Pro)
c.3904T>C (p.Ser1302Pro)
c.3628T>C (p.Ser1210Pro)
c.3589T>C (p.Ser1197Pro)
c.3979T>C (p.Ser1327Pro)
c.3886T>C (p.Ser1296Pro)
c.3361T>C (p.Ser1121Pro)
c.3676T>C (p.Ser1226Pro)
n.8248T>C
3g.9475627T>GCA351691795SETD5n.2820T>G
c.3961T>G (p.Ser1321Ala)
n.4854T>G
n.2245T>G
n.6662T>G
n.6107T>G
c.3865T>G (p.Ser1289Ala)
c.*4011T>G (n.*4011T>G)
c.*3934T>G (n.*3934T>G)
c.*4239T>G (n.*4239T>G)
c.*3970T>G (n.*3970T>G)
c.3571T>G (p.Ser1191Ala)
c.2722+471T>G
c.3922T>G (p.Ser1308Ala)
c.2901T>G
n.996T>G
n.3206T>G
n.252T>G
n.4029T>G
c.4039T>G (p.Ser1347Ala)
c.4018T>G (p.Ser1340Ala)
c.4000T>G (p.Ser1334Ala)
c.3982T>G (p.Ser1328Ala)
c.3943T>G (p.Ser1315Ala)
c.3904T>G (p.Ser1302Ala)
c.3628T>G (p.Ser1210Ala)
c.3589T>G (p.Ser1197Ala)
c.3979T>G (p.Ser1327Ala)
c.3886T>G (p.Ser1296Ala)
c.3361T>G (p.Ser1121Ala)
c.3676T>G (p.Ser1226Ala)
n.8248T>G
3g.9475628C>ACA69951948SETD5n.2821C>A
c.3962C>A (p.Ser1321Tyr)
n.4855C>A
n.2246C>A
n.6663C>A
n.6108C>A
c.3866C>A (p.Ser1289Tyr)
c.*4012C>A (n.*4012C>A)
c.*3935C>A (n.*3935C>A)
c.*4240C>A (n.*4240C>A)
c.*3971C>A (n.*3971C>A)
c.3572C>A (p.Ser1191Tyr)
c.2722+472C>A
c.3923C>A (p.Ser1308Tyr)
c.2902C>A
n.997C>A
n.3207C>A
n.253C>A
n.4030C>A
c.4040C>A (p.Ser1347Tyr)
c.4019C>A (p.Ser1340Tyr)
c.4001C>A (p.Ser1334Tyr)
c.3983C>A (p.Ser1328Tyr)
c.3944C>A (p.Ser1315Tyr)
c.3905C>A (p.Ser1302Tyr)
c.3629C>A (p.Ser1210Tyr)
c.3590C>A (p.Ser1197Tyr)
c.3980C>A (p.Ser1327Tyr)
c.3887C>A (p.Ser1296Tyr)
c.3362C>A (p.Ser1121Tyr)
c.3677C>A (p.Ser1226Tyr)
n.8249C>A
 dbSNP
3g.9475628C=CA1344742544SETD5n.2821C=
c.3962C= (p.Ser1321=)
n.4855C=
n.2246C=
n.6663C=
n.6108C=
c.3866C= (p.Ser1289=)
c.*4012C= (n.*4012C=)
c.*3935C= (n.*3935C=)
c.*4240C= (n.*4240C=)
c.*3971C= (n.*3971C=)
c.3572C= (p.Ser1191=)
c.2722+472C=
c.3923C= (p.Ser1308=)
c.2902C=
n.997C=
n.3207C=
n.253C=
n.4030C=
c.4040C= (p.Ser1347=)
c.4019C= (p.Ser1340=)
c.4001C= (p.Ser1334=)
c.3983C= (p.Ser1328=)
c.3944C= (p.Ser1315=)
c.3905C= (p.Ser1302=)
c.3629C= (p.Ser1210=)
c.3590C= (p.Ser1197=)
c.3980C= (p.Ser1327=)
c.3887C= (p.Ser1296=)
c.3362C= (p.Ser1121=)
c.3677C= (p.Ser1226=)
n.8249C=
3g.9475628C>GCA351691812SETD5n.2821C>G
c.3962C>G (p.Ser1321Cys)
n.4855C>G
n.2246C>G
n.6663C>G
n.6108C>G
c.3866C>G (p.Ser1289Cys)
c.*4012C>G (n.*4012C>G)
c.*3935C>G (n.*3935C>G)
c.*4240C>G (n.*4240C>G)
c.*3971C>G (n.*3971C>G)
c.3572C>G (p.Ser1191Cys)
c.2722+472C>G
c.3923C>G (p.Ser1308Cys)
c.2902C>G
n.997C>G
n.3207C>G
n.253C>G
n.4030C>G
c.4040C>G (p.Ser1347Cys)
c.4019C>G (p.Ser1340Cys)
c.4001C>G (p.Ser1334Cys)
c.3983C>G (p.Ser1328Cys)
c.3944C>G (p.Ser1315Cys)
c.3905C>G (p.Ser1302Cys)
c.3629C>G (p.Ser1210Cys)
c.3590C>G (p.Ser1197Cys)
c.3980C>G (p.Ser1327Cys)
c.3887C>G (p.Ser1296Cys)
c.3362C>G (p.Ser1121Cys)
c.3677C>G (p.Ser1226Cys)
n.8249C>G
 gnomAD v4
3g.9475628C>TCA351691820SETD5n.2821C>T
c.3962C>T (p.Ser1321Phe)
n.4855C>T
n.2246C>T
n.6663C>T
n.6108C>T
c.3866C>T (p.Ser1289Phe)
c.*4012C>T (n.*4012C>T)
c.*3935C>T (n.*3935C>T)
c.*4240C>T (n.*4240C>T)
c.*3971C>T (n.*3971C>T)
c.3572C>T (p.Ser1191Phe)
c.2722+472C>T
c.3923C>T (p.Ser1308Phe)
c.2902C>T
n.997C>T
n.3207C>T
n.253C>T
n.4030C>T
c.4040C>T (p.Ser1347Phe)
c.4019C>T (p.Ser1340Phe)
c.4001C>T (p.Ser1334Phe)
c.3983C>T (p.Ser1328Phe)
c.3944C>T (p.Ser1315Phe)
c.3905C>T (p.Ser1302Phe)
c.3629C>T (p.Ser1210Phe)
c.3590C>T (p.Ser1197Phe)
c.3980C>T (p.Ser1327Phe)
c.3887C>T (p.Ser1296Phe)
c.3362C>T (p.Ser1121Phe)
c.3677C>T (p.Ser1226Phe)
n.8249C>T
 dbSNP
3g.9475629T>ACA432528692SETD5n.2822T>A
c.3963T>A (p.Ser1321=)
n.4856T>A
n.2247T>A
n.6664T>A
n.6109T>A
c.3867T>A (p.Ser1289=)
c.*4013T>A (n.*4013T>A)
c.*3936T>A (n.*3936T>A)
c.*4241T>A (n.*4241T>A)
c.*3972T>A (n.*3972T>A)
c.3573T>A (p.Ser1191=)
c.2722+473T>A
c.3924T>A (p.Ser1308=)
c.2903T>A
n.998T>A
n.3208T>A
n.254T>A
n.4031T>A
c.4041T>A (p.Ser1347=)
c.4020T>A (p.Ser1340=)
c.4002T>A (p.Ser1334=)
c.3984T>A (p.Ser1328=)
c.3945T>A (p.Ser1315=)
c.3906T>A (p.Ser1302=)
c.3630T>A (p.Ser1210=)
c.3591T>A (p.Ser1197=)
c.3981T>A (p.Ser1327=)
c.3888T>A (p.Ser1296=)
c.3363T>A (p.Ser1121=)
c.3678T>A (p.Ser1226=)
n.8250T>A
3g.9475629T>CCA432528694SETD5n.2822T>C
c.3963T>C (p.Ser1321=)
n.4856T>C
n.2247T>C
n.6664T>C
n.6109T>C
c.3867T>C (p.Ser1289=)
c.*4013T>C (n.*4013T>C)
c.*3936T>C (n.*3936T>C)
c.*4241T>C (n.*4241T>C)
c.*3972T>C (n.*3972T>C)
c.3573T>C (p.Ser1191=)
c.2722+473T>C
c.3924T>C (p.Ser1308=)
c.2903T>C
n.998T>C
n.3208T>C
n.254T>C
n.4031T>C
c.4041T>C (p.Ser1347=)
c.4020T>C (p.Ser1340=)
c.4002T>C (p.Ser1334=)
c.3984T>C (p.Ser1328=)
c.3945T>C (p.Ser1315=)
c.3906T>C (p.Ser1302=)
c.3630T>C (p.Ser1210=)
c.3591T>C (p.Ser1197=)
c.3981T>C (p.Ser1327=)
c.3888T>C (p.Ser1296=)
c.3363T>C (p.Ser1121=)
c.3678T>C (p.Ser1226=)
n.8250T>C
3g.9475629T>GCA432528695SETD5n.2822T>G
c.3963T>G (p.Ser1321=)
n.4856T>G
n.2247T>G
n.6664T>G
n.6109T>G
c.3867T>G (p.Ser1289=)
c.*4013T>G (n.*4013T>G)
c.*3936T>G (n.*3936T>G)
c.*4241T>G (n.*4241T>G)
c.*3972T>G (n.*3972T>G)
c.3573T>G (p.Ser1191=)
c.2722+473T>G
c.3924T>G (p.Ser1308=)
c.2903T>G
n.998T>G
n.3208T>G
n.254T>G
n.4031T>G
c.4041T>G (p.Ser1347=)
c.4020T>G (p.Ser1340=)
c.4002T>G (p.Ser1334=)
c.3984T>G (p.Ser1328=)
c.3945T>G (p.Ser1315=)
c.3906T>G (p.Ser1302=)
c.3630T>G (p.Ser1210=)
c.3591T>G (p.Ser1197=)
c.3981T>G (p.Ser1327=)
c.3888T>G (p.Ser1296=)
c.3363T>G (p.Ser1121=)
c.3678T>G (p.Ser1226=)
n.8250T>G

Number of alleles fetched