Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.9475663A=CA1344742601SETD5n.2856A=
c.3997A= (p.Ser1333=)
n.4890A=
n.2281A=
n.6698A=
n.6143A=
c.3901A= (p.Ser1301=)
c.*4047A= (n.*4047A=)
c.*3970A= (n.*3970A=)
c.*4275A= (n.*4275A=)
c.*4006A= (n.*4006A=)
c.3607A= (p.Ser1203=)
c.2722+507A=
c.3958A= (p.Ser1320=)
c.2937A=
n.1032A=
n.3242A=
n.4065A=
c.4075A= (p.Ser1359=)
c.4054A= (p.Ser1352=)
c.4036A= (p.Ser1346=)
c.4018A= (p.Ser1340=)
c.3979A= (p.Ser1327=)
c.3940A= (p.Ser1314=)
c.3664A= (p.Ser1222=)
c.3625A= (p.Ser1209=)
c.4015A= (p.Ser1339=)
c.3922A= (p.Ser1308=)
c.3397A= (p.Ser1133=)
c.3712A= (p.Ser1238=)
n.8284A=
3g.9475663A>CCA2239825SETD5n.2856A>C
c.3997A>C (p.Ser1333Arg)
n.4890A>C
n.2281A>C
n.6698A>C
n.6143A>C
c.3901A>C (p.Ser1301Arg)
c.*4047A>C (n.*4047A>C)
c.*3970A>C (n.*3970A>C)
c.*4275A>C (n.*4275A>C)
c.*4006A>C (n.*4006A>C)
c.3607A>C (p.Ser1203Arg)
c.2722+507A>C
c.3958A>C (p.Ser1320Arg)
c.2937A>C
n.1032A>C
n.3242A>C
n.4065A>C
c.4075A>C (p.Ser1359Arg)
c.4054A>C (p.Ser1352Arg)
c.4036A>C (p.Ser1346Arg)
c.4018A>C (p.Ser1340Arg)
c.3979A>C (p.Ser1327Arg)
c.3940A>C (p.Ser1314Arg)
c.3664A>C (p.Ser1222Arg)
c.3625A>C (p.Ser1209Arg)
c.4015A>C (p.Ser1339Arg)
c.3922A>C (p.Ser1308Arg)
c.3397A>C (p.Ser1133Arg)
c.3712A>C (p.Ser1238Arg)
n.8284A>C
 dbSNP ExAC gnomAD v2
3g.9475663A>GCA351692237SETD5n.2856A>G
c.3997A>G (p.Ser1333Gly)
n.4890A>G
n.2281A>G
n.6698A>G
n.6143A>G
c.3901A>G (p.Ser1301Gly)
c.*4047A>G (n.*4047A>G)
c.*3970A>G (n.*3970A>G)
c.*4275A>G (n.*4275A>G)
c.*4006A>G (n.*4006A>G)
c.3607A>G (p.Ser1203Gly)
c.2722+507A>G
c.3958A>G (p.Ser1320Gly)
c.2937A>G
n.1032A>G
n.3242A>G
n.4065A>G
c.4075A>G (p.Ser1359Gly)
c.4054A>G (p.Ser1352Gly)
c.4036A>G (p.Ser1346Gly)
c.4018A>G (p.Ser1340Gly)
c.3979A>G (p.Ser1327Gly)
c.3940A>G (p.Ser1314Gly)
c.3664A>G (p.Ser1222Gly)
c.3625A>G (p.Ser1209Gly)
c.4015A>G (p.Ser1339Gly)
c.3922A>G (p.Ser1308Gly)
c.3397A>G (p.Ser1133Gly)
c.3712A>G (p.Ser1238Gly)
n.8284A>G
3g.9475663A>TCA351692234SETD5n.2856A>T
c.3997A>T (p.Ser1333Cys)
n.4890A>T
n.2281A>T
n.6698A>T
n.6143A>T
c.3901A>T (p.Ser1301Cys)
c.*4047A>T (n.*4047A>T)
c.*3970A>T (n.*3970A>T)
c.*4275A>T (n.*4275A>T)
c.*4006A>T (n.*4006A>T)
c.3607A>T (p.Ser1203Cys)
c.2722+507A>T
c.3958A>T (p.Ser1320Cys)
c.2937A>T
n.1032A>T
n.3242A>T
n.4065A>T
c.4075A>T (p.Ser1359Cys)
c.4054A>T (p.Ser1352Cys)
c.4036A>T (p.Ser1346Cys)
c.4018A>T (p.Ser1340Cys)
c.3979A>T (p.Ser1327Cys)
c.3940A>T (p.Ser1314Cys)
c.3664A>T (p.Ser1222Cys)
c.3625A>T (p.Ser1209Cys)
c.4015A>T (p.Ser1339Cys)
c.3922A>T (p.Ser1308Cys)
c.3397A>T (p.Ser1133Cys)
c.3712A>T (p.Ser1238Cys)
n.8284A>T
3g.9475664G>ACA351692245SETD5n.2857G>A
c.3998G>A (p.Ser1333Asn)
n.4891G>A
n.2282G>A
n.6699G>A
n.6144G>A
c.3902G>A (p.Ser1301Asn)
c.*4048G>A (n.*4048G>A)
c.*3971G>A (n.*3971G>A)
c.*4276G>A (n.*4276G>A)
c.*4007G>A (n.*4007G>A)
c.3608G>A (p.Ser1203Asn)
c.2722+508G>A
c.3959G>A (p.Ser1320Asn)
c.2938G>A
n.1033G>A
n.3243G>A
n.4066G>A
c.4076G>A (p.Ser1359Asn)
c.4055G>A (p.Ser1352Asn)
c.4037G>A (p.Ser1346Asn)
c.4019G>A (p.Ser1340Asn)
c.3980G>A (p.Ser1327Asn)
c.3941G>A (p.Ser1314Asn)
c.3665G>A (p.Ser1222Asn)
c.3626G>A (p.Ser1209Asn)
c.4016G>A (p.Ser1339Asn)
c.3923G>A (p.Ser1308Asn)
c.3398G>A (p.Ser1133Asn)
c.3713G>A (p.Ser1238Asn)
n.8285G>A
3g.9475664G>CCA351692247SETD5n.2857G>C
c.3998G>C (p.Ser1333Thr)
n.4891G>C
n.2282G>C
n.6699G>C
n.6144G>C
c.3902G>C (p.Ser1301Thr)
c.*4048G>C (n.*4048G>C)
c.*3971G>C (n.*3971G>C)
c.*4276G>C (n.*4276G>C)
c.*4007G>C (n.*4007G>C)
c.3608G>C (p.Ser1203Thr)
c.2722+508G>C
c.3959G>C (p.Ser1320Thr)
c.2938G>C
n.1033G>C
n.3243G>C
n.4066G>C
c.4076G>C (p.Ser1359Thr)
c.4055G>C (p.Ser1352Thr)
c.4037G>C (p.Ser1346Thr)
c.4019G>C (p.Ser1340Thr)
c.3980G>C (p.Ser1327Thr)
c.3941G>C (p.Ser1314Thr)
c.3665G>C (p.Ser1222Thr)
c.3626G>C (p.Ser1209Thr)
c.4016G>C (p.Ser1339Thr)
c.3923G>C (p.Ser1308Thr)
c.3398G>C (p.Ser1133Thr)
c.3713G>C (p.Ser1238Thr)
n.8285G>C
3g.9475664G>TCA351692251SETD5n.2857G>T
c.3998G>T (p.Ser1333Ile)
n.4891G>T
n.2282G>T
n.6699G>T
n.6144G>T
c.3902G>T (p.Ser1301Ile)
c.*4048G>T (n.*4048G>T)
c.*3971G>T (n.*3971G>T)
c.*4276G>T (n.*4276G>T)
c.*4007G>T (n.*4007G>T)
c.3608G>T (p.Ser1203Ile)
c.2722+508G>T
c.3959G>T (p.Ser1320Ile)
c.2938G>T
n.1033G>T
n.3243G>T
n.4066G>T
c.4076G>T (p.Ser1359Ile)
c.4055G>T (p.Ser1352Ile)
c.4037G>T (p.Ser1346Ile)
c.4019G>T (p.Ser1340Ile)
c.3980G>T (p.Ser1327Ile)
c.3941G>T (p.Ser1314Ile)
c.3665G>T (p.Ser1222Ile)
c.3626G>T (p.Ser1209Ile)
c.4016G>T (p.Ser1339Ile)
c.3923G>T (p.Ser1308Ile)
c.3398G>T (p.Ser1133Ile)
c.3713G>T (p.Ser1238Ile)
n.8285G>T
3g.9475665C>ACA351692261SETD5n.2858C>A
c.3999C>A (p.Ser1333Arg)
n.4892C>A
n.2283C>A
n.6700C>A
n.6145C>A
c.3903C>A (p.Ser1301Arg)
c.*4049C>A (n.*4049C>A)
c.*3972C>A (n.*3972C>A)
c.*4277C>A (n.*4277C>A)
c.*4008C>A (n.*4008C>A)
c.3609C>A (p.Ser1203Arg)
c.2722+509C>A
c.3960C>A (p.Ser1320Arg)
c.2939C>A
n.1034C>A
n.3244C>A
n.4067C>A
c.4077C>A (p.Ser1359Arg)
c.4056C>A (p.Ser1352Arg)
c.4038C>A (p.Ser1346Arg)
c.4020C>A (p.Ser1340Arg)
c.3981C>A (p.Ser1327Arg)
c.3942C>A (p.Ser1314Arg)
c.3666C>A (p.Ser1222Arg)
c.3627C>A (p.Ser1209Arg)
c.4017C>A (p.Ser1339Arg)
c.3924C>A (p.Ser1308Arg)
c.3399C>A (p.Ser1133Arg)
c.3714C>A (p.Ser1238Arg)
n.8286C>A
 COSMIC COSMIC
3g.9475665C=CA1344742606SETD5n.2858C=
c.3999C= (p.Ser1333=)
n.4892C=
n.2283C=
n.6700C=
n.6145C=
c.3903C= (p.Ser1301=)
c.*4049C= (n.*4049C=)
c.*3972C= (n.*3972C=)
c.*4277C= (n.*4277C=)
c.*4008C= (n.*4008C=)
c.3609C= (p.Ser1203=)
c.2722+509C=
c.3960C= (p.Ser1320=)
c.2939C=
n.1034C=
n.3244C=
n.4067C=
c.4077C= (p.Ser1359=)
c.4056C= (p.Ser1352=)
c.4038C= (p.Ser1346=)
c.4020C= (p.Ser1340=)
c.3981C= (p.Ser1327=)
c.3942C= (p.Ser1314=)
c.3666C= (p.Ser1222=)
c.3627C= (p.Ser1209=)
c.4017C= (p.Ser1339=)
c.3924C= (p.Ser1308=)
c.3399C= (p.Ser1133=)
c.3714C= (p.Ser1238=)
n.8286C=
3g.9475665C>GCA351692270SETD5n.2858C>G
c.3999C>G (p.Ser1333Arg)
n.4892C>G
n.2283C>G
n.6700C>G
n.6145C>G
c.3903C>G (p.Ser1301Arg)
c.*4049C>G (n.*4049C>G)
c.*3972C>G (n.*3972C>G)
c.*4277C>G (n.*4277C>G)
c.*4008C>G (n.*4008C>G)
c.3609C>G (p.Ser1203Arg)
c.2722+509C>G
c.3960C>G (p.Ser1320Arg)
c.2939C>G
n.1034C>G
n.3244C>G
n.4067C>G
c.4077C>G (p.Ser1359Arg)
c.4056C>G (p.Ser1352Arg)
c.4038C>G (p.Ser1346Arg)
c.4020C>G (p.Ser1340Arg)
c.3981C>G (p.Ser1327Arg)
c.3942C>G (p.Ser1314Arg)
c.3666C>G (p.Ser1222Arg)
c.3627C>G (p.Ser1209Arg)
c.4017C>G (p.Ser1339Arg)
c.3924C>G (p.Ser1308Arg)
c.3399C>G (p.Ser1133Arg)
c.3714C>G (p.Ser1238Arg)
n.8286C>G
3g.9475665C>TCA2239826SETD5n.2858C>T
c.3999C>T (p.Ser1333=)
n.4892C>T
n.2283C>T
n.6700C>T
n.6145C>T
c.3903C>T (p.Ser1301=)
c.*4049C>T (n.*4049C>T)
c.*3972C>T (n.*3972C>T)
c.*4277C>T (n.*4277C>T)
c.*4008C>T (n.*4008C>T)
c.3609C>T (p.Ser1203=)
c.2722+509C>T
c.3960C>T (p.Ser1320=)
c.2939C>T
n.1034C>T
n.3244C>T
n.4067C>T
c.4077C>T (p.Ser1359=)
c.4056C>T (p.Ser1352=)
c.4038C>T (p.Ser1346=)
c.4020C>T (p.Ser1340=)
c.3981C>T (p.Ser1327=)
c.3942C>T (p.Ser1314=)
c.3666C>T (p.Ser1222=)
c.3627C>T (p.Ser1209=)
c.4017C>T (p.Ser1339=)
c.3924C>T (p.Ser1308=)
c.3399C>T (p.Ser1133=)
c.3714C>T (p.Ser1238=)
n.8286C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475666C>ACA351692277SETD5n.2859C>A
c.4000C>A (p.Pro1334Thr)
n.4893C>A
n.2284C>A
n.6701C>A
n.6146C>A
c.3904C>A (p.Pro1302Thr)
c.*4050C>A (n.*4050C>A)
c.*3973C>A (n.*3973C>A)
c.*4278C>A (n.*4278C>A)
c.*4009C>A (n.*4009C>A)
c.3610C>A (p.Pro1204Thr)
c.2722+510C>A
c.3961C>A (p.Pro1321Thr)
c.2940C>A
n.1035C>A
n.3245C>A
n.4068C>A
c.4078C>A (p.Pro1360Thr)
c.4057C>A (p.Pro1353Thr)
c.4039C>A (p.Pro1347Thr)
c.4021C>A (p.Pro1341Thr)
c.3982C>A (p.Pro1328Thr)
c.3943C>A (p.Pro1315Thr)
c.3667C>A (p.Pro1223Thr)
c.3628C>A (p.Pro1210Thr)
c.4018C>A (p.Pro1340Thr)
c.3925C>A (p.Pro1309Thr)
c.3400C>A (p.Pro1134Thr)
c.3715C>A (p.Pro1239Thr)
n.8287C>A
3g.9475666C=CA1344742610SETD5n.2859C=
c.4000C= (p.Pro1334=)
n.4893C=
n.2284C=
n.6701C=
n.6146C=
c.3904C= (p.Pro1302=)
c.*4050C= (n.*4050C=)
c.*3973C= (n.*3973C=)
c.*4278C= (n.*4278C=)
c.*4009C= (n.*4009C=)
c.3610C= (p.Pro1204=)
c.2722+510C=
c.3961C= (p.Pro1321=)
c.2940C=
n.1035C=
n.3245C=
n.4068C=
c.4078C= (p.Pro1360=)
c.4057C= (p.Pro1353=)
c.4039C= (p.Pro1347=)
c.4021C= (p.Pro1341=)
c.3982C= (p.Pro1328=)
c.3943C= (p.Pro1315=)
c.3667C= (p.Pro1223=)
c.3628C= (p.Pro1210=)
c.4018C= (p.Pro1340=)
c.3925C= (p.Pro1309=)
c.3400C= (p.Pro1134=)
c.3715C= (p.Pro1239=)
n.8287C=
3g.9475666C>GCA351692279SETD5n.2859C>G
c.4000C>G (p.Pro1334Ala)
n.4893C>G
n.2284C>G
n.6701C>G
n.6146C>G
c.3904C>G (p.Pro1302Ala)
c.*4050C>G (n.*4050C>G)
c.*3973C>G (n.*3973C>G)
c.*4278C>G (n.*4278C>G)
c.*4009C>G (n.*4009C>G)
c.3610C>G (p.Pro1204Ala)
c.2722+510C>G
c.3961C>G (p.Pro1321Ala)
c.2940C>G
n.1035C>G
n.3245C>G
n.4068C>G
c.4078C>G (p.Pro1360Ala)
c.4057C>G (p.Pro1353Ala)
c.4039C>G (p.Pro1347Ala)
c.4021C>G (p.Pro1341Ala)
c.3982C>G (p.Pro1328Ala)
c.3943C>G (p.Pro1315Ala)
c.3667C>G (p.Pro1223Ala)
c.3628C>G (p.Pro1210Ala)
c.4018C>G (p.Pro1340Ala)
c.3925C>G (p.Pro1309Ala)
c.3400C>G (p.Pro1134Ala)
c.3715C>G (p.Pro1239Ala)
n.8287C>G
 dbSNP
3g.9475666C>TCA351692284SETD5n.2859C>T
c.4000C>T (p.Pro1334Ser)
n.4893C>T
n.2284C>T
n.6701C>T
n.6146C>T
c.3904C>T (p.Pro1302Ser)
c.*4050C>T (n.*4050C>T)
c.*3973C>T (n.*3973C>T)
c.*4278C>T (n.*4278C>T)
c.*4009C>T (n.*4009C>T)
c.3610C>T (p.Pro1204Ser)
c.2722+510C>T
c.3961C>T (p.Pro1321Ser)
c.2940C>T
n.1035C>T
n.3245C>T
n.4068C>T
c.4078C>T (p.Pro1360Ser)
c.4057C>T (p.Pro1353Ser)
c.4039C>T (p.Pro1347Ser)
c.4021C>T (p.Pro1341Ser)
c.3982C>T (p.Pro1328Ser)
c.3943C>T (p.Pro1315Ser)
c.3667C>T (p.Pro1223Ser)
c.3628C>T (p.Pro1210Ser)
c.4018C>T (p.Pro1340Ser)
c.3925C>T (p.Pro1309Ser)
c.3400C>T (p.Pro1134Ser)
c.3715C>T (p.Pro1239Ser)
n.8287C>T
 ClinVar
3g.9475667C>ACA351692289SETD5n.2860C>A
c.4001C>A (p.Pro1334His)
n.4894C>A
n.2285C>A
n.6702C>A
n.6147C>A
c.3905C>A (p.Pro1302His)
c.*4051C>A (n.*4051C>A)
c.*3974C>A (n.*3974C>A)
c.*4279C>A (n.*4279C>A)
c.*4010C>A (n.*4010C>A)
c.3611C>A (p.Pro1204His)
c.2722+511C>A
c.3962C>A (p.Pro1321His)
c.2941C>A
n.1036C>A
n.3246C>A
n.4069C>A
c.4079C>A (p.Pro1360His)
c.4058C>A (p.Pro1353His)
c.4040C>A (p.Pro1347His)
c.4022C>A (p.Pro1341His)
c.3983C>A (p.Pro1328His)
c.3944C>A (p.Pro1315His)
c.3668C>A (p.Pro1223His)
c.3629C>A (p.Pro1210His)
c.4019C>A (p.Pro1340His)
c.3926C>A (p.Pro1309His)
c.3401C>A (p.Pro1134His)
c.3716C>A (p.Pro1239His)
n.8288C>A
 COSMIC COSMIC
3g.9475667C>GCA351692295SETD5n.2860C>G
c.4001C>G (p.Pro1334Arg)
n.4894C>G
n.2285C>G
n.6702C>G
n.6147C>G
c.3905C>G (p.Pro1302Arg)
c.*4051C>G (n.*4051C>G)
c.*3974C>G (n.*3974C>G)
c.*4279C>G (n.*4279C>G)
c.*4010C>G (n.*4010C>G)
c.3611C>G (p.Pro1204Arg)
c.2722+511C>G
c.3962C>G (p.Pro1321Arg)
c.2941C>G
n.1036C>G
n.3246C>G
n.4069C>G
c.4079C>G (p.Pro1360Arg)
c.4058C>G (p.Pro1353Arg)
c.4040C>G (p.Pro1347Arg)
c.4022C>G (p.Pro1341Arg)
c.3983C>G (p.Pro1328Arg)
c.3944C>G (p.Pro1315Arg)
c.3668C>G (p.Pro1223Arg)
c.3629C>G (p.Pro1210Arg)
c.4019C>G (p.Pro1340Arg)
c.3926C>G (p.Pro1309Arg)
c.3401C>G (p.Pro1134Arg)
c.3716C>G (p.Pro1239Arg)
n.8288C>G
3g.9475667C>TCA351692328SETD5n.2860C>T
c.4001C>T (p.Pro1334Leu)
n.4894C>T
n.2285C>T
n.6702C>T
n.6147C>T
c.3905C>T (p.Pro1302Leu)
c.*4051C>T (n.*4051C>T)
c.*3974C>T (n.*3974C>T)
c.*4279C>T (n.*4279C>T)
c.*4010C>T (n.*4010C>T)
c.3611C>T (p.Pro1204Leu)
c.2722+511C>T
c.3962C>T (p.Pro1321Leu)
c.2941C>T
n.1036C>T
n.3246C>T
n.4069C>T
c.4079C>T (p.Pro1360Leu)
c.4058C>T (p.Pro1353Leu)
c.4040C>T (p.Pro1347Leu)
c.4022C>T (p.Pro1341Leu)
c.3983C>T (p.Pro1328Leu)
c.3944C>T (p.Pro1315Leu)
c.3668C>T (p.Pro1223Leu)
c.3629C>T (p.Pro1210Leu)
c.4019C>T (p.Pro1340Leu)
c.3926C>T (p.Pro1309Leu)
c.3401C>T (p.Pro1134Leu)
c.3716C>T (p.Pro1239Leu)
n.8288C>T
3g.9475668C>ACA432528830SETD5n.2861C>A
c.4002C>A (p.Pro1334=)
n.4895C>A
n.2286C>A
n.6703C>A
n.6148C>A
c.3906C>A (p.Pro1302=)
c.*4052C>A (n.*4052C>A)
c.*3975C>A (n.*3975C>A)
c.*4280C>A (n.*4280C>A)
c.*4011C>A (n.*4011C>A)
c.3612C>A (p.Pro1204=)
c.2722+512C>A
c.3963C>A (p.Pro1321=)
c.2942C>A
n.1037C>A
n.3247C>A
n.4070C>A
c.4080C>A (p.Pro1360=)
c.4059C>A (p.Pro1353=)
c.4041C>A (p.Pro1347=)
c.4023C>A (p.Pro1341=)
c.3984C>A (p.Pro1328=)
c.3945C>A (p.Pro1315=)
c.3669C>A (p.Pro1223=)
c.3630C>A (p.Pro1210=)
c.4020C>A (p.Pro1340=)
c.3927C>A (p.Pro1309=)
c.3402C>A (p.Pro1134=)
c.3717C>A (p.Pro1239=)
n.8289C>A
3g.9475668C=CA1344742617SETD5n.2861C=
c.4002C= (p.Pro1334=)
n.4895C=
n.2286C=
n.6703C=
n.6148C=
c.3906C= (p.Pro1302=)
c.*4052C= (n.*4052C=)
c.*3975C= (n.*3975C=)
c.*4280C= (n.*4280C=)
c.*4011C= (n.*4011C=)
c.3612C= (p.Pro1204=)
c.2722+512C=
c.3963C= (p.Pro1321=)
c.2942C=
n.1037C=
n.3247C=
n.4070C=
c.4080C= (p.Pro1360=)
c.4059C= (p.Pro1353=)
c.4041C= (p.Pro1347=)
c.4023C= (p.Pro1341=)
c.3984C= (p.Pro1328=)
c.3945C= (p.Pro1315=)
c.3669C= (p.Pro1223=)
c.3630C= (p.Pro1210=)
c.4020C= (p.Pro1340=)
c.3927C= (p.Pro1309=)
c.3402C= (p.Pro1134=)
c.3717C= (p.Pro1239=)
n.8289C=
3g.9475668C>GCA432528831SETD5n.2861C>G
c.4002C>G (p.Pro1334=)
n.4895C>G
n.2286C>G
n.6703C>G
n.6148C>G
c.3906C>G (p.Pro1302=)
c.*4052C>G (n.*4052C>G)
c.*3975C>G (n.*3975C>G)
c.*4280C>G (n.*4280C>G)
c.*4011C>G (n.*4011C>G)
c.3612C>G (p.Pro1204=)
c.2722+512C>G
c.3963C>G (p.Pro1321=)
c.2942C>G
n.1037C>G
n.3247C>G
n.4070C>G
c.4080C>G (p.Pro1360=)
c.4059C>G (p.Pro1353=)
c.4041C>G (p.Pro1347=)
c.4023C>G (p.Pro1341=)
c.3984C>G (p.Pro1328=)
c.3945C>G (p.Pro1315=)
c.3669C>G (p.Pro1223=)
c.3630C>G (p.Pro1210=)
c.4020C>G (p.Pro1340=)
c.3927C>G (p.Pro1309=)
c.3402C>G (p.Pro1134=)
c.3717C>G (p.Pro1239=)
n.8289C>G
3g.9475668C>TCA2239827SETD5n.2861C>T
c.4002C>T (p.Pro1334=)
n.4895C>T
n.2286C>T
n.6703C>T
n.6148C>T
c.3906C>T (p.Pro1302=)
c.*4052C>T (n.*4052C>T)
c.*3975C>T (n.*3975C>T)
c.*4280C>T (n.*4280C>T)
c.*4011C>T (n.*4011C>T)
c.3612C>T (p.Pro1204=)
c.2722+512C>T
c.3963C>T (p.Pro1321=)
c.2942C>T
n.1037C>T
n.3247C>T
n.4070C>T
c.4080C>T (p.Pro1360=)
c.4059C>T (p.Pro1353=)
c.4041C>T (p.Pro1347=)
c.4023C>T (p.Pro1341=)
c.3984C>T (p.Pro1328=)
c.3945C>T (p.Pro1315=)
c.3669C>T (p.Pro1223=)
c.3630C>T (p.Pro1210=)
c.4020C>T (p.Pro1340=)
c.3927C>T (p.Pro1309=)
c.3402C>T (p.Pro1134=)
c.3717C>T (p.Pro1239=)
n.8289C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475669G>ACA2239828SETD5n.2862G>A
c.4003G>A (p.Ala1335Thr)
n.4896G>A
n.2287G>A
n.6704G>A
n.6149G>A
c.3907G>A (p.Ala1303Thr)
c.*4053G>A (n.*4053G>A)
c.*3976G>A (n.*3976G>A)
c.*4281G>A (n.*4281G>A)
c.*4012G>A (n.*4012G>A)
c.3613G>A (p.Ala1205Thr)
c.2722+513G>A
c.3964G>A (p.Ala1322Thr)
c.2943G>A
n.1038G>A
n.3248G>A
n.4071G>A
c.4081G>A (p.Ala1361Thr)
c.4060G>A (p.Ala1354Thr)
c.4042G>A (p.Ala1348Thr)
c.4024G>A (p.Ala1342Thr)
c.3985G>A (p.Ala1329Thr)
c.3946G>A (p.Ala1316Thr)
c.3670G>A (p.Ala1224Thr)
c.3631G>A (p.Ala1211Thr)
c.4021G>A (p.Ala1341Thr)
c.3928G>A (p.Ala1310Thr)
c.3403G>A (p.Ala1135Thr)
c.3718G>A (p.Ala1240Thr)
n.8290G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.9475669G>CCA351692339SETD5n.2862G>C
c.4003G>C (p.Ala1335Pro)
n.4896G>C
n.2287G>C
n.6704G>C
n.6149G>C
c.3907G>C (p.Ala1303Pro)
c.*4053G>C (n.*4053G>C)
c.*3976G>C (n.*3976G>C)
c.*4281G>C (n.*4281G>C)
c.*4012G>C (n.*4012G>C)
c.3613G>C (p.Ala1205Pro)
c.2722+513G>C
c.3964G>C (p.Ala1322Pro)
c.2943G>C
n.1038G>C
n.3248G>C
n.4071G>C
c.4081G>C (p.Ala1361Pro)
c.4060G>C (p.Ala1354Pro)
c.4042G>C (p.Ala1348Pro)
c.4024G>C (p.Ala1342Pro)
c.3985G>C (p.Ala1329Pro)
c.3946G>C (p.Ala1316Pro)
c.3670G>C (p.Ala1224Pro)
c.3631G>C (p.Ala1211Pro)
c.4021G>C (p.Ala1341Pro)
c.3928G>C (p.Ala1310Pro)
c.3403G>C (p.Ala1135Pro)
c.3718G>C (p.Ala1240Pro)
n.8290G>C
3g.9475669G=CA1344742624SETD5n.2862G=
c.4003G= (p.Ala1335=)
n.4896G=
n.2287G=
n.6704G=
n.6149G=
c.3907G= (p.Ala1303=)
c.*4053G= (n.*4053G=)
c.*3976G= (n.*3976G=)
c.*4281G= (n.*4281G=)
c.*4012G= (n.*4012G=)
c.3613G= (p.Ala1205=)
c.2722+513G=
c.3964G= (p.Ala1322=)
c.2943G=
n.1038G=
n.3248G=
n.4071G=
c.4081G= (p.Ala1361=)
c.4060G= (p.Ala1354=)
c.4042G= (p.Ala1348=)
c.4024G= (p.Ala1342=)
c.3985G= (p.Ala1329=)
c.3946G= (p.Ala1316=)
c.3670G= (p.Ala1224=)
c.3631G= (p.Ala1211=)
c.4021G= (p.Ala1341=)
c.3928G= (p.Ala1310=)
c.3403G= (p.Ala1135=)
c.3718G= (p.Ala1240=)
n.8290G=
3g.9475669G>TCA2239829SETD5n.2862G>T
c.4003G>T (p.Ala1335Ser)
n.4896G>T
n.2287G>T
n.6704G>T
n.6149G>T
c.3907G>T (p.Ala1303Ser)
c.*4053G>T (n.*4053G>T)
c.*3976G>T (n.*3976G>T)
c.*4281G>T (n.*4281G>T)
c.*4012G>T (n.*4012G>T)
c.3613G>T (p.Ala1205Ser)
c.2722+513G>T
c.3964G>T (p.Ala1322Ser)
c.2943G>T
n.1038G>T
n.3248G>T
n.4071G>T
c.4081G>T (p.Ala1361Ser)
c.4060G>T (p.Ala1354Ser)
c.4042G>T (p.Ala1348Ser)
c.4024G>T (p.Ala1342Ser)
c.3985G>T (p.Ala1329Ser)
c.3946G>T (p.Ala1316Ser)
c.3670G>T (p.Ala1224Ser)
c.3631G>T (p.Ala1211Ser)
c.4021G>T (p.Ala1341Ser)
c.3928G>T (p.Ala1310Ser)
c.3403G>T (p.Ala1135Ser)
c.3718G>T (p.Ala1240Ser)
n.8290G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475670C>ACA351692343SETD5n.2863C>A
c.4004C>A (p.Ala1335Asp)
n.4897C>A
n.2288C>A
n.6705C>A
n.6150C>A
c.3908C>A (p.Ala1303Asp)
c.*4054C>A (n.*4054C>A)
c.*3977C>A (n.*3977C>A)
c.*4282C>A (n.*4282C>A)
c.*4013C>A (n.*4013C>A)
c.3614C>A (p.Ala1205Asp)
c.2722+514C>A
c.3965C>A (p.Ala1322Asp)
c.2944C>A
n.1039C>A
n.3249C>A
n.4072C>A
c.4082C>A (p.Ala1361Asp)
c.4061C>A (p.Ala1354Asp)
c.4043C>A (p.Ala1348Asp)
c.4025C>A (p.Ala1342Asp)
c.3986C>A (p.Ala1329Asp)
c.3947C>A (p.Ala1316Asp)
c.3671C>A (p.Ala1224Asp)
c.3632C>A (p.Ala1211Asp)
c.4022C>A (p.Ala1341Asp)
c.3929C>A (p.Ala1310Asp)
c.3404C>A (p.Ala1135Asp)
c.3719C>A (p.Ala1240Asp)
n.8291C>A
 ClinVar gnomAD v4
3g.9475670C>GCA351692347SETD5n.2863C>G
c.4004C>G (p.Ala1335Gly)
n.4897C>G
n.2288C>G
n.6705C>G
n.6150C>G
c.3908C>G (p.Ala1303Gly)
c.*4054C>G (n.*4054C>G)
c.*3977C>G (n.*3977C>G)
c.*4282C>G (n.*4282C>G)
c.*4013C>G (n.*4013C>G)
c.3614C>G (p.Ala1205Gly)
c.2722+514C>G
c.3965C>G (p.Ala1322Gly)
c.2944C>G
n.1039C>G
n.3249C>G
n.4072C>G
c.4082C>G (p.Ala1361Gly)
c.4061C>G (p.Ala1354Gly)
c.4043C>G (p.Ala1348Gly)
c.4025C>G (p.Ala1342Gly)
c.3986C>G (p.Ala1329Gly)
c.3947C>G (p.Ala1316Gly)
c.3671C>G (p.Ala1224Gly)
c.3632C>G (p.Ala1211Gly)
c.4022C>G (p.Ala1341Gly)
c.3929C>G (p.Ala1310Gly)
c.3404C>G (p.Ala1135Gly)
c.3719C>G (p.Ala1240Gly)
n.8291C>G
3g.9475670C>TCA351692351SETD5n.2863C>T
c.4004C>T (p.Ala1335Val)
n.4897C>T
n.2288C>T
n.6705C>T
n.6150C>T
c.3908C>T (p.Ala1303Val)
c.*4054C>T (n.*4054C>T)
c.*3977C>T (n.*3977C>T)
c.*4282C>T (n.*4282C>T)
c.*4013C>T (n.*4013C>T)
c.3614C>T (p.Ala1205Val)
c.2722+514C>T
c.3965C>T (p.Ala1322Val)
c.2944C>T
n.1039C>T
n.3249C>T
n.4072C>T
c.4082C>T (p.Ala1361Val)
c.4061C>T (p.Ala1354Val)
c.4043C>T (p.Ala1348Val)
c.4025C>T (p.Ala1342Val)
c.3986C>T (p.Ala1329Val)
c.3947C>T (p.Ala1316Val)
c.3671C>T (p.Ala1224Val)
c.3632C>T (p.Ala1211Val)
c.4022C>T (p.Ala1341Val)
c.3929C>T (p.Ala1310Val)
c.3404C>T (p.Ala1135Val)
c.3719C>T (p.Ala1240Val)
n.8291C>T
3g.9475671C>ACA432528838SETD5n.2864C>A
c.4005C>A (p.Ala1335=)
n.4898C>A
n.2289C>A
n.6706C>A
n.6151C>A
c.3909C>A (p.Ala1303=)
c.*4055C>A (n.*4055C>A)
c.*3978C>A (n.*3978C>A)
c.*4283C>A (n.*4283C>A)
c.*4014C>A (n.*4014C>A)
c.3615C>A (p.Ala1205=)
c.2722+515C>A
c.3966C>A (p.Ala1322=)
c.2945C>A
n.1040C>A
n.3250C>A
n.4073C>A
c.4083C>A (p.Ala1361=)
c.4062C>A (p.Ala1354=)
c.4044C>A (p.Ala1348=)
c.4026C>A (p.Ala1342=)
c.3987C>A (p.Ala1329=)
c.3948C>A (p.Ala1316=)
c.3672C>A (p.Ala1224=)
c.3633C>A (p.Ala1211=)
c.4023C>A (p.Ala1341=)
c.3930C>A (p.Ala1310=)
c.3405C>A (p.Ala1135=)
c.3720C>A (p.Ala1240=)
n.8292C>A
3g.9475671C>GCA432528840SETD5n.2864C>G
c.4005C>G (p.Ala1335=)
n.4898C>G
n.2289C>G
n.6706C>G
n.6151C>G
c.3909C>G (p.Ala1303=)
c.*4055C>G (n.*4055C>G)
c.*3978C>G (n.*3978C>G)
c.*4283C>G (n.*4283C>G)
c.*4014C>G (n.*4014C>G)
c.3615C>G (p.Ala1205=)
c.2722+515C>G
c.3966C>G (p.Ala1322=)
c.2945C>G
n.1040C>G
n.3250C>G
n.4073C>G
c.4083C>G (p.Ala1361=)
c.4062C>G (p.Ala1354=)
c.4044C>G (p.Ala1348=)
c.4026C>G (p.Ala1342=)
c.3987C>G (p.Ala1329=)
c.3948C>G (p.Ala1316=)
c.3672C>G (p.Ala1224=)
c.3633C>G (p.Ala1211=)
c.4023C>G (p.Ala1341=)
c.3930C>G (p.Ala1310=)
c.3405C>G (p.Ala1135=)
c.3720C>G (p.Ala1240=)
n.8292C>G
 gnomAD v4
3g.9475671C>TCA432528841SETD5n.2864C>T
c.4005C>T (p.Ala1335=)
n.4898C>T
n.2289C>T
n.6706C>T
n.6151C>T
c.3909C>T (p.Ala1303=)
c.*4055C>T (n.*4055C>T)
c.*3978C>T (n.*3978C>T)
c.*4283C>T (n.*4283C>T)
c.*4014C>T (n.*4014C>T)
c.3615C>T (p.Ala1205=)
c.2722+515C>T
c.3966C>T (p.Ala1322=)
c.2945C>T
n.1040C>T
n.3250C>T
n.4073C>T
c.4083C>T (p.Ala1361=)
c.4062C>T (p.Ala1354=)
c.4044C>T (p.Ala1348=)
c.4026C>T (p.Ala1342=)
c.3987C>T (p.Ala1329=)
c.3948C>T (p.Ala1316=)
c.3672C>T (p.Ala1224=)
c.3633C>T (p.Ala1211=)
c.4023C>T (p.Ala1341=)
c.3930C>T (p.Ala1310=)
c.3405C>T (p.Ala1135=)
c.3720C>T (p.Ala1240=)
n.8292C>T
3g.9475672C>ACA351692357SETD5n.2865C>A
c.4006C>A (p.His1336Asn)
n.4899C>A
n.2290C>A
n.6707C>A
n.6152C>A
c.3910C>A (p.His1304Asn)
c.*4056C>A (n.*4056C>A)
c.*3979C>A (n.*3979C>A)
c.*4284C>A (n.*4284C>A)
c.*4015C>A (n.*4015C>A)
c.3616C>A (p.His1206Asn)
c.2722+516C>A
c.3967C>A (p.His1323Asn)
c.2946C>A
n.1041C>A
n.3251C>A
n.4074C>A
c.4084C>A (p.His1362Asn)
c.4063C>A (p.His1355Asn)
c.4045C>A (p.His1349Asn)
c.4027C>A (p.His1343Asn)
c.3988C>A (p.His1330Asn)
c.3949C>A (p.His1317Asn)
c.3673C>A (p.His1225Asn)
c.3634C>A (p.His1212Asn)
c.4024C>A (p.His1342Asn)
c.3931C>A (p.His1311Asn)
c.3406C>A (p.His1136Asn)
c.3721C>A (p.His1241Asn)
n.8293C>A
3g.9475672C>GCA351692358SETD5n.2865C>G
c.4006C>G (p.His1336Asp)
n.4899C>G
n.2290C>G
n.6707C>G
n.6152C>G
c.3910C>G (p.His1304Asp)
c.*4056C>G (n.*4056C>G)
c.*3979C>G (n.*3979C>G)
c.*4284C>G (n.*4284C>G)
c.*4015C>G (n.*4015C>G)
c.3616C>G (p.His1206Asp)
c.2722+516C>G
c.3967C>G (p.His1323Asp)
c.2946C>G
n.1041C>G
n.3251C>G
n.4074C>G
c.4084C>G (p.His1362Asp)
c.4063C>G (p.His1355Asp)
c.4045C>G (p.His1349Asp)
c.4027C>G (p.His1343Asp)
c.3988C>G (p.His1330Asp)
c.3949C>G (p.His1317Asp)
c.3673C>G (p.His1225Asp)
c.3634C>G (p.His1212Asp)
c.4024C>G (p.His1342Asp)
c.3931C>G (p.His1311Asp)
c.3406C>G (p.His1136Asp)
c.3721C>G (p.His1241Asp)
n.8293C>G
3g.9475672C>TCA351692359SETD5n.2865C>T
c.4006C>T (p.His1336Tyr)
n.4899C>T
n.2290C>T
n.6707C>T
n.6152C>T
c.3910C>T (p.His1304Tyr)
c.*4056C>T (n.*4056C>T)
c.*3979C>T (n.*3979C>T)
c.*4284C>T (n.*4284C>T)
c.*4015C>T (n.*4015C>T)
c.3616C>T (p.His1206Tyr)
c.2722+516C>T
c.3967C>T (p.His1323Tyr)
c.2946C>T
n.1041C>T
n.3251C>T
n.4074C>T
c.4084C>T (p.His1362Tyr)
c.4063C>T (p.His1355Tyr)
c.4045C>T (p.His1349Tyr)
c.4027C>T (p.His1343Tyr)
c.3988C>T (p.His1330Tyr)
c.3949C>T (p.His1317Tyr)
c.3673C>T (p.His1225Tyr)
c.3634C>T (p.His1212Tyr)
c.4024C>T (p.His1342Tyr)
c.3931C>T (p.His1311Tyr)
c.3406C>T (p.His1136Tyr)
c.3721C>T (p.His1241Tyr)
n.8293C>T
 gnomAD v4
3g.9475673A=CA1344742630SETD5n.2866A=
c.4007A= (p.His1336=)
n.4900A=
n.2291A=
n.6708A=
n.6153A=
c.3911A= (p.His1304=)
c.*4057A= (n.*4057A=)
c.*3980A= (n.*3980A=)
c.*4285A= (n.*4285A=)
c.*4016A= (n.*4016A=)
c.3617A= (p.His1206=)
c.2722+517A=
c.3968A= (p.His1323=)
c.2947A=
n.1042A=
n.3252A=
n.4075A=
c.4085A= (p.His1362=)
c.4064A= (p.His1355=)
c.4046A= (p.His1349=)
c.4028A= (p.His1343=)
c.3989A= (p.His1330=)
c.3950A= (p.His1317=)
c.3674A= (p.His1225=)
c.3635A= (p.His1212=)
c.4025A= (p.His1342=)
c.3932A= (p.His1311=)
c.3407A= (p.His1136=)
c.3722A= (p.His1241=)
n.8294A=
3g.9475673A>CCA351692362SETD5n.2866A>C
c.4007A>C (p.His1336Pro)
n.4900A>C
n.2291A>C
n.6708A>C
n.6153A>C
c.3911A>C (p.His1304Pro)
c.*4057A>C (n.*4057A>C)
c.*3980A>C (n.*3980A>C)
c.*4285A>C (n.*4285A>C)
c.*4016A>C (n.*4016A>C)
c.3617A>C (p.His1206Pro)
c.2722+517A>C
c.3968A>C (p.His1323Pro)
c.2947A>C
n.1042A>C
n.3252A>C
n.4075A>C
c.4085A>C (p.His1362Pro)
c.4064A>C (p.His1355Pro)
c.4046A>C (p.His1349Pro)
c.4028A>C (p.His1343Pro)
c.3989A>C (p.His1330Pro)
c.3950A>C (p.His1317Pro)
c.3674A>C (p.His1225Pro)
c.3635A>C (p.His1212Pro)
c.4025A>C (p.His1342Pro)
c.3932A>C (p.His1311Pro)
c.3407A>C (p.His1136Pro)
c.3722A>C (p.His1241Pro)
n.8294A>C
 dbSNP
3g.9475673A>GCA351692363SETD5n.2866A>G
c.4007A>G (p.His1336Arg)
n.4900A>G
n.2291A>G
n.6708A>G
n.6153A>G
c.3911A>G (p.His1304Arg)
c.*4057A>G (n.*4057A>G)
c.*3980A>G (n.*3980A>G)
c.*4285A>G (n.*4285A>G)
c.*4016A>G (n.*4016A>G)
c.3617A>G (p.His1206Arg)
c.2722+517A>G
c.3968A>G (p.His1323Arg)
c.2947A>G
n.1042A>G
n.3252A>G
n.4075A>G
c.4085A>G (p.His1362Arg)
c.4064A>G (p.His1355Arg)
c.4046A>G (p.His1349Arg)
c.4028A>G (p.His1343Arg)
c.3989A>G (p.His1330Arg)
c.3950A>G (p.His1317Arg)
c.3674A>G (p.His1225Arg)
c.3635A>G (p.His1212Arg)
c.4025A>G (p.His1342Arg)
c.3932A>G (p.His1311Arg)
c.3407A>G (p.His1136Arg)
c.3722A>G (p.His1241Arg)
n.8294A>G
3g.9475673A>TCA351692366SETD5n.2866A>T
c.4007A>T (p.His1336Leu)
n.4900A>T
n.2291A>T
n.6708A>T
n.6153A>T
c.3911A>T (p.His1304Leu)
c.*4057A>T (n.*4057A>T)
c.*3980A>T (n.*3980A>T)
c.*4285A>T (n.*4285A>T)
c.*4016A>T (n.*4016A>T)
c.3617A>T (p.His1206Leu)
c.2722+517A>T
c.3968A>T (p.His1323Leu)
c.2947A>T
n.1042A>T
n.3252A>T
n.4075A>T
c.4085A>T (p.His1362Leu)
c.4064A>T (p.His1355Leu)
c.4046A>T (p.His1349Leu)
c.4028A>T (p.His1343Leu)
c.3989A>T (p.His1330Leu)
c.3950A>T (p.His1317Leu)
c.3674A>T (p.His1225Leu)
c.3635A>T (p.His1212Leu)
c.4025A>T (p.His1342Leu)
c.3932A>T (p.His1311Leu)
c.3407A>T (p.His1136Leu)
c.3722A>T (p.His1241Leu)
n.8294A>T
3g.9475674C>ACA351692373SETD5n.2867C>A
c.4008C>A (p.His1336Gln)
n.4901C>A
n.2292C>A
n.6709C>A
n.6154C>A
c.3912C>A (p.His1304Gln)
c.*4058C>A (n.*4058C>A)
c.*3981C>A (n.*3981C>A)
c.*4286C>A (n.*4286C>A)
c.*4017C>A (n.*4017C>A)
c.3618C>A (p.His1206Gln)
c.2722+518C>A
c.3969C>A (p.His1323Gln)
c.2948C>A
n.1043C>A
n.3253C>A
n.4076C>A
c.4086C>A (p.His1362Gln)
c.4065C>A (p.His1355Gln)
c.4047C>A (p.His1349Gln)
c.4029C>A (p.His1343Gln)
c.3990C>A (p.His1330Gln)
c.3951C>A (p.His1317Gln)
c.3675C>A (p.His1225Gln)
c.3636C>A (p.His1212Gln)
c.4026C>A (p.His1342Gln)
c.3933C>A (p.His1311Gln)
c.3408C>A (p.His1136Gln)
c.3723C>A (p.His1241Gln)
n.8295C>A
3g.9475674C>GCA351692375SETD5n.2867C>G
c.4008C>G (p.His1336Gln)
n.4901C>G
n.2292C>G
n.6709C>G
n.6154C>G
c.3912C>G (p.His1304Gln)
c.*4058C>G (n.*4058C>G)
c.*3981C>G (n.*3981C>G)
c.*4286C>G (n.*4286C>G)
c.*4017C>G (n.*4017C>G)
c.3618C>G (p.His1206Gln)
c.2722+518C>G
c.3969C>G (p.His1323Gln)
c.2948C>G
n.1043C>G
n.3253C>G
n.4076C>G
c.4086C>G (p.His1362Gln)
c.4065C>G (p.His1355Gln)
c.4047C>G (p.His1349Gln)
c.4029C>G (p.His1343Gln)
c.3990C>G (p.His1330Gln)
c.3951C>G (p.His1317Gln)
c.3675C>G (p.His1225Gln)
c.3636C>G (p.His1212Gln)
c.4026C>G (p.His1342Gln)
c.3933C>G (p.His1311Gln)
c.3408C>G (p.His1136Gln)
c.3723C>G (p.His1241Gln)
n.8295C>G
3g.9475674C>TCA432528847SETD5n.2867C>T
c.4008C>T (p.His1336=)
n.4901C>T
n.2292C>T
n.6709C>T
n.6154C>T
c.3912C>T (p.His1304=)
c.*4058C>T (n.*4058C>T)
c.*3981C>T (n.*3981C>T)
c.*4286C>T (n.*4286C>T)
c.*4017C>T (n.*4017C>T)
c.3618C>T (p.His1206=)
c.2722+518C>T
c.3969C>T (p.His1323=)
c.2948C>T
n.1043C>T
n.3253C>T
n.4076C>T
c.4086C>T (p.His1362=)
c.4065C>T (p.His1355=)
c.4047C>T (p.His1349=)
c.4029C>T (p.His1343=)
c.3990C>T (p.His1330=)
c.3951C>T (p.His1317=)
c.3675C>T (p.His1225=)
c.3636C>T (p.His1212=)
c.4026C>T (p.His1342=)
c.3933C>T (p.His1311=)
c.3408C>T (p.His1136=)
c.3723C>T (p.His1241=)
n.8295C>T
 gnomAD v4
3g.9475675C>ACA351692429SETD5n.2868C>A
c.4009C>A (p.Pro1337Thr)
n.4902C>A
n.2293C>A
n.6155C>A
c.3913C>A (p.Pro1305Thr)
c.*4059C>A (n.*4059C>A)
c.*3982C>A (n.*3982C>A)
c.*4287C>A (n.*4287C>A)
c.*4018C>A (n.*4018C>A)
c.3619C>A (p.Pro1207Thr)
c.2722+519C>A
c.3970C>A (p.Pro1324Thr)
c.2949C>A
n.1044C>A
n.3254C>A
n.4077C>A
c.4087C>A (p.Pro1363Thr)
c.4066C>A (p.Pro1356Thr)
c.4048C>A (p.Pro1350Thr)
c.4030C>A (p.Pro1344Thr)
c.3991C>A (p.Pro1331Thr)
c.3952C>A (p.Pro1318Thr)
c.3676C>A (p.Pro1226Thr)
c.3637C>A (p.Pro1213Thr)
c.4027C>A (p.Pro1343Thr)
c.3934C>A (p.Pro1312Thr)
c.3409C>A (p.Pro1137Thr)
c.3724C>A (p.Pro1242Thr)
n.8296C>A
3g.9475675C>GCA351692425SETD5n.2868C>G
c.4009C>G (p.Pro1337Ala)
n.4902C>G
n.2293C>G
n.6155C>G
c.3913C>G (p.Pro1305Ala)
c.*4059C>G (n.*4059C>G)
c.*3982C>G (n.*3982C>G)
c.*4287C>G (n.*4287C>G)
c.*4018C>G (n.*4018C>G)
c.3619C>G (p.Pro1207Ala)
c.2722+519C>G
c.3970C>G (p.Pro1324Ala)
c.2949C>G
n.1044C>G
n.3254C>G
n.4077C>G
c.4087C>G (p.Pro1363Ala)
c.4066C>G (p.Pro1356Ala)
c.4048C>G (p.Pro1350Ala)
c.4030C>G (p.Pro1344Ala)
c.3991C>G (p.Pro1331Ala)
c.3952C>G (p.Pro1318Ala)
c.3676C>G (p.Pro1226Ala)
c.3637C>G (p.Pro1213Ala)
c.4027C>G (p.Pro1343Ala)
c.3934C>G (p.Pro1312Ala)
c.3409C>G (p.Pro1137Ala)
c.3724C>G (p.Pro1242Ala)
n.8296C>G
3g.9475675C>TCA351692379SETD5n.2868C>T
c.4009C>T (p.Pro1337Ser)
n.4902C>T
n.2293C>T
n.6155C>T
c.3913C>T (p.Pro1305Ser)
c.*4059C>T (n.*4059C>T)
c.*3982C>T (n.*3982C>T)
c.*4287C>T (n.*4287C>T)
c.*4018C>T (n.*4018C>T)
c.3619C>T (p.Pro1207Ser)
c.2722+519C>T
c.3970C>T (p.Pro1324Ser)
c.2949C>T
n.1044C>T
n.3254C>T
n.4077C>T
c.4087C>T (p.Pro1363Ser)
c.4066C>T (p.Pro1356Ser)
c.4048C>T (p.Pro1350Ser)
c.4030C>T (p.Pro1344Ser)
c.3991C>T (p.Pro1331Ser)
c.3952C>T (p.Pro1318Ser)
c.3676C>T (p.Pro1226Ser)
c.3637C>T (p.Pro1213Ser)
c.4027C>T (p.Pro1343Ser)
c.3934C>T (p.Pro1312Ser)
c.3409C>T (p.Pro1137Ser)
c.3724C>T (p.Pro1242Ser)
n.8296C>T
 gnomAD v4
3g.9475676C>ACA351692441SETD5n.2869C>A
c.4010C>A (p.Pro1337His)
n.4903C>A
n.2294C>A
n.6156C>A
c.3914C>A (p.Pro1305His)
c.*4060C>A (n.*4060C>A)
c.*3983C>A (n.*3983C>A)
c.*4288C>A (n.*4288C>A)
c.*4019C>A (n.*4019C>A)
c.3620C>A (p.Pro1207His)
c.2722+520C>A
c.3971C>A (p.Pro1324His)
c.2950C>A
n.1045C>A
n.3255C>A
n.4078C>A
c.4088C>A (p.Pro1363His)
c.4067C>A (p.Pro1356His)
c.4049C>A (p.Pro1350His)
c.4031C>A (p.Pro1344His)
c.3992C>A (p.Pro1331His)
c.3953C>A (p.Pro1318His)
c.3677C>A (p.Pro1226His)
c.3638C>A (p.Pro1213His)
c.4028C>A (p.Pro1343His)
c.3935C>A (p.Pro1312His)
c.3410C>A (p.Pro1137His)
c.3725C>A (p.Pro1242His)
n.8297C>A
3g.9475676C>GCA351692447SETD5n.2869C>G
c.4010C>G (p.Pro1337Arg)
n.4903C>G
n.2294C>G
n.6156C>G
c.3914C>G (p.Pro1305Arg)
c.*4060C>G (n.*4060C>G)
c.*3983C>G (n.*3983C>G)
c.*4288C>G (n.*4288C>G)
c.*4019C>G (n.*4019C>G)
c.3620C>G (p.Pro1207Arg)
c.2722+520C>G
c.3971C>G (p.Pro1324Arg)
c.2950C>G
n.1045C>G
n.3255C>G
n.4078C>G
c.4088C>G (p.Pro1363Arg)
c.4067C>G (p.Pro1356Arg)
c.4049C>G (p.Pro1350Arg)
c.4031C>G (p.Pro1344Arg)
c.3992C>G (p.Pro1331Arg)
c.3953C>G (p.Pro1318Arg)
c.3677C>G (p.Pro1226Arg)
c.3638C>G (p.Pro1213Arg)
c.4028C>G (p.Pro1343Arg)
c.3935C>G (p.Pro1312Arg)
c.3410C>G (p.Pro1137Arg)
c.3725C>G (p.Pro1242Arg)
n.8297C>G
3g.9475676C>TCA351692474SETD5n.2869C>T
c.4010C>T (p.Pro1337Leu)
n.4903C>T
n.2294C>T
n.6156C>T
c.3914C>T (p.Pro1305Leu)
c.*4060C>T (n.*4060C>T)
c.*3983C>T (n.*3983C>T)
c.*4288C>T (n.*4288C>T)
c.*4019C>T (n.*4019C>T)
c.3620C>T (p.Pro1207Leu)
c.2722+520C>T
c.3971C>T (p.Pro1324Leu)
c.2950C>T
n.1045C>T
n.3255C>T
n.4078C>T
c.4088C>T (p.Pro1363Leu)
c.4067C>T (p.Pro1356Leu)
c.4049C>T (p.Pro1350Leu)
c.4031C>T (p.Pro1344Leu)
c.3992C>T (p.Pro1331Leu)
c.3953C>T (p.Pro1318Leu)
c.3677C>T (p.Pro1226Leu)
c.3638C>T (p.Pro1213Leu)
c.4028C>T (p.Pro1343Leu)
c.3935C>T (p.Pro1312Leu)
c.3410C>T (p.Pro1137Leu)
c.3725C>T (p.Pro1242Leu)
n.8297C>T
3g.9475677T>ACA432528860SETD5n.2870T>A
c.4011T>A (p.Pro1337=)
n.4904T>A
n.2295T>A
n.6157T>A
c.3915T>A (p.Pro1305=)
c.*4061T>A (n.*4061T>A)
c.*3984T>A (n.*3984T>A)
c.*4289T>A (n.*4289T>A)
c.*4020T>A (n.*4020T>A)
c.3621T>A (p.Pro1207=)
c.2722+521T>A
c.3972T>A (p.Pro1324=)
c.2951T>A
n.1046T>A
n.3256T>A
n.4079T>A
c.4089T>A (p.Pro1363=)
c.4068T>A (p.Pro1356=)
c.4050T>A (p.Pro1350=)
c.4032T>A (p.Pro1344=)
c.3993T>A (p.Pro1331=)
c.3954T>A (p.Pro1318=)
c.3678T>A (p.Pro1226=)
c.3639T>A (p.Pro1213=)
c.4029T>A (p.Pro1343=)
c.3936T>A (p.Pro1312=)
c.3411T>A (p.Pro1137=)
c.3726T>A (p.Pro1242=)
n.8298T>A
3g.9475677T>CCA432528858SETD5n.2870T>C
c.4011T>C (p.Pro1337=)
n.4904T>C
n.2295T>C
n.6157T>C
c.3915T>C (p.Pro1305=)
c.*4061T>C (n.*4061T>C)
c.*3984T>C (n.*3984T>C)
c.*4289T>C (n.*4289T>C)
c.*4020T>C (n.*4020T>C)
c.3621T>C (p.Pro1207=)
c.2722+521T>C
c.3972T>C (p.Pro1324=)
c.2951T>C
n.1046T>C
n.3256T>C
n.4079T>C
c.4089T>C (p.Pro1363=)
c.4068T>C (p.Pro1356=)
c.4050T>C (p.Pro1350=)
c.4032T>C (p.Pro1344=)
c.3993T>C (p.Pro1331=)
c.3954T>C (p.Pro1318=)
c.3678T>C (p.Pro1226=)
c.3639T>C (p.Pro1213=)
c.4029T>C (p.Pro1343=)
c.3936T>C (p.Pro1312=)
c.3411T>C (p.Pro1137=)
c.3726T>C (p.Pro1242=)
n.8298T>C
 gnomAD v4
3g.9475677T>GCA432528856SETD5n.2870T>G
c.4011T>G (p.Pro1337=)
n.4904T>G
n.2295T>G
n.6157T>G
c.3915T>G (p.Pro1305=)
c.*4061T>G (n.*4061T>G)
c.*3984T>G (n.*3984T>G)
c.*4289T>G (n.*4289T>G)
c.*4020T>G (n.*4020T>G)
c.3621T>G (p.Pro1207=)
c.2722+521T>G
c.3972T>G (p.Pro1324=)
c.2951T>G
n.1046T>G
n.3256T>G
n.4079T>G
c.4089T>G (p.Pro1363=)
c.4068T>G (p.Pro1356=)
c.4050T>G (p.Pro1350=)
c.4032T>G (p.Pro1344=)
c.3993T>G (p.Pro1331=)
c.3954T>G (p.Pro1318=)
c.3678T>G (p.Pro1226=)
c.3639T>G (p.Pro1213=)
c.4029T>G (p.Pro1343=)
c.3936T>G (p.Pro1312=)
c.3411T>G (p.Pro1137=)
c.3726T>G (p.Pro1242=)
n.8298T>G
3g.9475678G>ACA69951970SETD5n.2871G>A
c.4012G>A (p.Val1338Met)
n.4905G>A
n.2296G>A
n.6158G>A
c.3916G>A (p.Val1306Met)
c.*4062G>A (n.*4062G>A)
c.*3985G>A (n.*3985G>A)
c.*4290G>A (n.*4290G>A)
c.*4021G>A (n.*4021G>A)
c.3622G>A (p.Val1208Met)
c.2722+522G>A
c.3973G>A (p.Val1325Met)
c.2952G>A
n.1047G>A
n.3257G>A
n.4080G>A
c.4090G>A (p.Val1364Met)
c.4069G>A (p.Val1357Met)
c.4051G>A (p.Val1351Met)
c.4033G>A (p.Val1345Met)
c.3994G>A (p.Val1332Met)
c.3955G>A (p.Val1319Met)
c.3679G>A (p.Val1227Met)
c.3640G>A (p.Val1214Met)
c.4030G>A (p.Val1344Met)
c.3937G>A (p.Val1313Met)
c.3412G>A (p.Val1138Met)
c.3727G>A (p.Val1243Met)
n.8299G>A
 dbSNP gnomAD v4
3g.9475678G>CCA351692502SETD5n.2871G>C
c.4012G>C (p.Val1338Leu)
n.4905G>C
n.2296G>C
n.6158G>C
c.3916G>C (p.Val1306Leu)
c.*4062G>C (n.*4062G>C)
c.*3985G>C (n.*3985G>C)
c.*4290G>C (n.*4290G>C)
c.*4021G>C (n.*4021G>C)
c.3622G>C (p.Val1208Leu)
c.2722+522G>C
c.3973G>C (p.Val1325Leu)
c.2952G>C
n.1047G>C
n.3257G>C
n.4080G>C
c.4090G>C (p.Val1364Leu)
c.4069G>C (p.Val1357Leu)
c.4051G>C (p.Val1351Leu)
c.4033G>C (p.Val1345Leu)
c.3994G>C (p.Val1332Leu)
c.3955G>C (p.Val1319Leu)
c.3679G>C (p.Val1227Leu)
c.3640G>C (p.Val1214Leu)
c.4030G>C (p.Val1344Leu)
c.3937G>C (p.Val1313Leu)
c.3412G>C (p.Val1138Leu)
c.3727G>C (p.Val1243Leu)
n.8299G>C
3g.9475678G=CA1344742636SETD5n.2871G=
c.4012G= (p.Val1338=)
n.4905G=
n.2296G=
n.6158G=
c.3916G= (p.Val1306=)
c.*4062G= (n.*4062G=)
c.*3985G= (n.*3985G=)
c.*4290G= (n.*4290G=)
c.*4021G= (n.*4021G=)
c.3622G= (p.Val1208=)
c.2722+522G=
c.3973G= (p.Val1325=)
c.2952G=
n.1047G=
n.3257G=
n.4080G=
c.4090G= (p.Val1364=)
c.4069G= (p.Val1357=)
c.4051G= (p.Val1351=)
c.4033G= (p.Val1345=)
c.3994G= (p.Val1332=)
c.3955G= (p.Val1319=)
c.3679G= (p.Val1227=)
c.3640G= (p.Val1214=)
c.4030G= (p.Val1344=)
c.3937G= (p.Val1313=)
c.3412G= (p.Val1138=)
c.3727G= (p.Val1243=)
n.8299G=
3g.9475678G>TCA351692504SETD5n.2871G>T
c.4012G>T (p.Val1338Leu)
n.4905G>T
n.2296G>T
n.6158G>T
c.3916G>T (p.Val1306Leu)
c.*4062G>T (n.*4062G>T)
c.*3985G>T (n.*3985G>T)
c.*4290G>T (n.*4290G>T)
c.*4021G>T (n.*4021G>T)
c.3622G>T (p.Val1208Leu)
c.2722+522G>T
c.3973G>T (p.Val1325Leu)
c.2952G>T
n.1047G>T
n.3257G>T
n.4080G>T
c.4090G>T (p.Val1364Leu)
c.4069G>T (p.Val1357Leu)
c.4051G>T (p.Val1351Leu)
c.4033G>T (p.Val1345Leu)
c.3994G>T (p.Val1332Leu)
c.3955G>T (p.Val1319Leu)
c.3679G>T (p.Val1227Leu)
c.3640G>T (p.Val1214Leu)
c.4030G>T (p.Val1344Leu)
c.3937G>T (p.Val1313Leu)
c.3412G>T (p.Val1138Leu)
c.3727G>T (p.Val1243Leu)
n.8299G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.9475679T>ACA351692521SETD5n.2872T>A
c.4013T>A (p.Val1338Glu)
n.4906T>A
n.2297T>A
n.6159T>A
c.3917T>A (p.Val1306Glu)
c.*4063T>A (n.*4063T>A)
c.*3986T>A (n.*3986T>A)
c.*4291T>A (n.*4291T>A)
c.*4022T>A (n.*4022T>A)
c.3623T>A (p.Val1208Glu)
c.2722+523T>A
c.3974T>A (p.Val1325Glu)
c.2953T>A
n.1048T>A
n.3258T>A
n.4081T>A
c.4091T>A (p.Val1364Glu)
c.4070T>A (p.Val1357Glu)
c.4052T>A (p.Val1351Glu)
c.4034T>A (p.Val1345Glu)
c.3995T>A (p.Val1332Glu)
c.3956T>A (p.Val1319Glu)
c.3680T>A (p.Val1227Glu)
c.3641T>A (p.Val1214Glu)
c.4031T>A (p.Val1344Glu)
c.3938T>A (p.Val1313Glu)
c.3413T>A (p.Val1138Glu)
c.3728T>A (p.Val1243Glu)
n.8300T>A
3g.9475679T>CCA351692539SETD5n.2872T>C
c.4013T>C (p.Val1338Ala)
n.4906T>C
n.2297T>C
n.6159T>C
c.3917T>C (p.Val1306Ala)
c.*4063T>C (n.*4063T>C)
c.*3986T>C (n.*3986T>C)
c.*4291T>C (n.*4291T>C)
c.*4022T>C (n.*4022T>C)
c.3623T>C (p.Val1208Ala)
c.2722+523T>C
c.3974T>C (p.Val1325Ala)
c.2953T>C
n.1048T>C
n.3258T>C
n.4081T>C
c.4091T>C (p.Val1364Ala)
c.4070T>C (p.Val1357Ala)
c.4052T>C (p.Val1351Ala)
c.4034T>C (p.Val1345Ala)
c.3995T>C (p.Val1332Ala)
c.3956T>C (p.Val1319Ala)
c.3680T>C (p.Val1227Ala)
c.3641T>C (p.Val1214Ala)
c.4031T>C (p.Val1344Ala)
c.3938T>C (p.Val1313Ala)
c.3413T>C (p.Val1138Ala)
c.3728T>C (p.Val1243Ala)
n.8300T>C
 dbSNP gnomAD v2 gnomAD v4
3g.9475679T>GCA351692543SETD5n.2872T>G
c.4013T>G (p.Val1338Gly)
n.4906T>G
n.2297T>G
n.6159T>G
c.3917T>G (p.Val1306Gly)
c.*4063T>G (n.*4063T>G)
c.*3986T>G (n.*3986T>G)
c.*4291T>G (n.*4291T>G)
c.*4022T>G (n.*4022T>G)
c.3623T>G (p.Val1208Gly)
c.2722+523T>G
c.3974T>G (p.Val1325Gly)
c.2953T>G
n.1048T>G
n.3258T>G
n.4081T>G
c.4091T>G (p.Val1364Gly)
c.4070T>G (p.Val1357Gly)
c.4052T>G (p.Val1351Gly)
c.4034T>G (p.Val1345Gly)
c.3995T>G (p.Val1332Gly)
c.3956T>G (p.Val1319Gly)
c.3680T>G (p.Val1227Gly)
c.3641T>G (p.Val1214Gly)
c.4031T>G (p.Val1344Gly)
c.3938T>G (p.Val1313Gly)
c.3413T>G (p.Val1138Gly)
c.3728T>G (p.Val1243Gly)
n.8300T>G
3g.9475679T=CA1344742638SETD5n.2872T=
c.4013T= (p.Val1338=)
n.4906T=
n.2297T=
n.6159T=
c.3917T= (p.Val1306=)
c.*4063T= (n.*4063T=)
c.*3986T= (n.*3986T=)
c.*4291T= (n.*4291T=)
c.*4022T= (n.*4022T=)
c.3623T= (p.Val1208=)
c.2722+523T=
c.3974T= (p.Val1325=)
c.2953T=
n.1048T=
n.3258T=
n.4081T=
c.4091T= (p.Val1364=)
c.4070T= (p.Val1357=)
c.4052T= (p.Val1351=)
c.4034T= (p.Val1345=)
c.3995T= (p.Val1332=)
c.3956T= (p.Val1319=)
c.3680T= (p.Val1227=)
c.3641T= (p.Val1214=)
c.4031T= (p.Val1344=)
c.3938T= (p.Val1313=)
c.3413T= (p.Val1138=)
c.3728T= (p.Val1243=)
n.8300T=
3g.9475680G>ACA432528864SETD5n.2873G>A
c.4014G>A (p.Val1338=)
n.4907G>A
n.2298G>A
n.6160G>A
c.3918G>A (p.Val1306=)
c.*4064G>A (n.*4064G>A)
c.*3987G>A (n.*3987G>A)
c.*4292G>A (n.*4292G>A)
c.*4023G>A (n.*4023G>A)
c.3624G>A (p.Val1208=)
c.2722+524G>A
c.3975G>A (p.Val1325=)
c.2954G>A
n.1049G>A
n.3259G>A
n.4082G>A
c.4092G>A (p.Val1364=)
c.4071G>A (p.Val1357=)
c.4053G>A (p.Val1351=)
c.4035G>A (p.Val1345=)
c.3996G>A (p.Val1332=)
c.3957G>A (p.Val1319=)
c.3681G>A (p.Val1227=)
c.3642G>A (p.Val1214=)
c.4032G>A (p.Val1344=)
c.3939G>A (p.Val1313=)
c.3414G>A (p.Val1138=)
c.3729G>A (p.Val1243=)
n.8301G>A
3g.9475680G>CCA432528871SETD5n.2873G>C
c.4014G>C (p.Val1338=)
n.4907G>C
n.2298G>C
n.6160G>C
c.3918G>C (p.Val1306=)
c.*4064G>C (n.*4064G>C)
c.*3987G>C (n.*3987G>C)
c.*4292G>C (n.*4292G>C)
c.*4023G>C (n.*4023G>C)
c.3624G>C (p.Val1208=)
c.2722+524G>C
c.3975G>C (p.Val1325=)
c.2954G>C
n.1049G>C
n.3259G>C
n.4082G>C
c.4092G>C (p.Val1364=)
c.4071G>C (p.Val1357=)
c.4053G>C (p.Val1351=)
c.4035G>C (p.Val1345=)
c.3996G>C (p.Val1332=)
c.3957G>C (p.Val1319=)
c.3681G>C (p.Val1227=)
c.3642G>C (p.Val1214=)
c.4032G>C (p.Val1344=)
c.3939G>C (p.Val1313=)
c.3414G>C (p.Val1138=)
c.3729G>C (p.Val1243=)
n.8301G>C
3g.9475680G>TCA432528868SETD5n.2873G>T
c.4014G>T (p.Val1338=)
n.4907G>T
n.2298G>T
n.6160G>T
c.3918G>T (p.Val1306=)
c.*4064G>T (n.*4064G>T)
c.*3987G>T (n.*3987G>T)
c.*4292G>T (n.*4292G>T)
c.*4023G>T (n.*4023G>T)
c.3624G>T (p.Val1208=)
c.2722+524G>T
c.3975G>T (p.Val1325=)
c.2954G>T
n.1049G>T
n.3259G>T
n.4082G>T
c.4092G>T (p.Val1364=)
c.4071G>T (p.Val1357=)
c.4053G>T (p.Val1351=)
c.4035G>T (p.Val1345=)
c.3996G>T (p.Val1332=)
c.3957G>T (p.Val1319=)
c.3681G>T (p.Val1227=)
c.3642G>T (p.Val1214=)
c.4032G>T (p.Val1344=)
c.3939G>T (p.Val1313=)
c.3414G>T (p.Val1138=)
c.3729G>T (p.Val1243=)
n.8301G>T
3g.9475681T>ACA351692547SETD5n.2874T>A
c.4015T>A (p.Ser1339Thr)
n.4908T>A
n.2299T>A
n.6161T>A
c.3919T>A (p.Ser1307Thr)
c.*4065T>A (n.*4065T>A)
c.*3988T>A (n.*3988T>A)
c.*4293T>A (n.*4293T>A)
c.*4024T>A (n.*4024T>A)
c.3625T>A (p.Ser1209Thr)
c.2722+525T>A
c.3976T>A (p.Ser1326Thr)
c.2955T>A
n.1050T>A
n.3260T>A
n.4083T>A
c.4093T>A (p.Ser1365Thr)
c.4072T>A (p.Ser1358Thr)
c.4054T>A (p.Ser1352Thr)
c.4036T>A (p.Ser1346Thr)
c.3997T>A (p.Ser1333Thr)
c.3958T>A (p.Ser1320Thr)
c.3682T>A (p.Ser1228Thr)
c.3643T>A (p.Ser1215Thr)
c.4033T>A (p.Ser1345Thr)
c.3940T>A (p.Ser1314Thr)
c.3415T>A (p.Ser1139Thr)
c.3730T>A (p.Ser1244Thr)
n.8302T>A
3g.9475681T>CCA2239830SETD5n.2874T>C
c.4015T>C (p.Ser1339Pro)
n.4908T>C
n.2299T>C
n.6161T>C
c.3919T>C (p.Ser1307Pro)
c.*4065T>C (n.*4065T>C)
c.*3988T>C (n.*3988T>C)
c.*4293T>C (n.*4293T>C)
c.*4024T>C (n.*4024T>C)
c.3625T>C (p.Ser1209Pro)
c.2722+525T>C
c.3976T>C (p.Ser1326Pro)
c.2955T>C
n.1050T>C
n.3260T>C
n.4083T>C
c.4093T>C (p.Ser1365Pro)
c.4072T>C (p.Ser1358Pro)
c.4054T>C (p.Ser1352Pro)
c.4036T>C (p.Ser1346Pro)
c.3997T>C (p.Ser1333Pro)
c.3958T>C (p.Ser1320Pro)
c.3682T>C (p.Ser1228Pro)
c.3643T>C (p.Ser1215Pro)
c.4033T>C (p.Ser1345Pro)
c.3940T>C (p.Ser1314Pro)
c.3415T>C (p.Ser1139Pro)
c.3730T>C (p.Ser1244Pro)
n.8302T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475681T>GCA351692557SETD5n.2874T>G
c.4015T>G (p.Ser1339Ala)
n.4908T>G
n.2299T>G
n.6161T>G
c.3919T>G (p.Ser1307Ala)
c.*4065T>G (n.*4065T>G)
c.*3988T>G (n.*3988T>G)
c.*4293T>G (n.*4293T>G)
c.*4024T>G (n.*4024T>G)
c.3625T>G (p.Ser1209Ala)
c.2722+525T>G
c.3976T>G (p.Ser1326Ala)
c.2955T>G
n.1050T>G
n.3260T>G
n.4083T>G
c.4093T>G (p.Ser1365Ala)
c.4072T>G (p.Ser1358Ala)
c.4054T>G (p.Ser1352Ala)
c.4036T>G (p.Ser1346Ala)
c.3997T>G (p.Ser1333Ala)
c.3958T>G (p.Ser1320Ala)
c.3682T>G (p.Ser1228Ala)
c.3643T>G (p.Ser1215Ala)
c.4033T>G (p.Ser1345Ala)
c.3940T>G (p.Ser1314Ala)
c.3415T>G (p.Ser1139Ala)
c.3730T>G (p.Ser1244Ala)
n.8302T>G
3g.9475681T=CA1344742641SETD5n.2874T=
c.4015T= (p.Ser1339=)
n.4908T=
n.2299T=
n.6161T=
c.3919T= (p.Ser1307=)
c.*4065T= (n.*4065T=)
c.*3988T= (n.*3988T=)
c.*4293T= (n.*4293T=)
c.*4024T= (n.*4024T=)
c.3625T= (p.Ser1209=)
c.2722+525T=
c.3976T= (p.Ser1326=)
c.2955T=
n.1050T=
n.3260T=
n.4083T=
c.4093T= (p.Ser1365=)
c.4072T= (p.Ser1358=)
c.4054T= (p.Ser1352=)
c.4036T= (p.Ser1346=)
c.3997T= (p.Ser1333=)
c.3958T= (p.Ser1320=)
c.3682T= (p.Ser1228=)
c.3643T= (p.Ser1215=)
c.4033T= (p.Ser1345=)
c.3940T= (p.Ser1314=)
c.3415T= (p.Ser1139=)
c.3730T= (p.Ser1244=)
n.8302T=
3g.9475682C>ACA351692589SETD5n.2875C>A
c.4016C>A (p.Ser1339Tyr)
n.4909C>A
n.2300C>A
n.6162C>A
c.3920C>A (p.Ser1307Tyr)
c.*4066C>A (n.*4066C>A)
c.*3989C>A (n.*3989C>A)
c.*4294C>A (n.*4294C>A)
c.*4025C>A (n.*4025C>A)
c.3626C>A (p.Ser1209Tyr)
c.2722+526C>A
c.3977C>A (p.Ser1326Tyr)
c.2956C>A
n.1051C>A
n.3261C>A
n.4084C>A
c.4094C>A (p.Ser1365Tyr)
c.4073C>A (p.Ser1358Tyr)
c.4055C>A (p.Ser1352Tyr)
c.4037C>A (p.Ser1346Tyr)
c.3998C>A (p.Ser1333Tyr)
c.3959C>A (p.Ser1320Tyr)
c.3683C>A (p.Ser1228Tyr)
c.3644C>A (p.Ser1215Tyr)
c.4034C>A (p.Ser1345Tyr)
c.3941C>A (p.Ser1314Tyr)
c.3416C>A (p.Ser1139Tyr)
c.3731C>A (p.Ser1244Tyr)
n.8303C>A
3g.9475682C>GCA351692586SETD5n.2875C>G
c.4016C>G (p.Ser1339Cys)
n.4909C>G
n.2300C>G
n.6162C>G
c.3920C>G (p.Ser1307Cys)
c.*4066C>G (n.*4066C>G)
c.*3989C>G (n.*3989C>G)
c.*4294C>G (n.*4294C>G)
c.*4025C>G (n.*4025C>G)
c.3626C>G (p.Ser1209Cys)
c.2722+526C>G
c.3977C>G (p.Ser1326Cys)
c.2956C>G
n.1051C>G
n.3261C>G
n.4084C>G
c.4094C>G (p.Ser1365Cys)
c.4073C>G (p.Ser1358Cys)
c.4055C>G (p.Ser1352Cys)
c.4037C>G (p.Ser1346Cys)
c.3998C>G (p.Ser1333Cys)
c.3959C>G (p.Ser1320Cys)
c.3683C>G (p.Ser1228Cys)
c.3644C>G (p.Ser1215Cys)
c.4034C>G (p.Ser1345Cys)
c.3941C>G (p.Ser1314Cys)
c.3416C>G (p.Ser1139Cys)
c.3731C>G (p.Ser1244Cys)
n.8303C>G
3g.9475682C>TCA351692565SETD5n.2875C>T
c.4016C>T (p.Ser1339Phe)
n.4909C>T
n.2300C>T
n.6162C>T
c.3920C>T (p.Ser1307Phe)
c.*4066C>T (n.*4066C>T)
c.*3989C>T (n.*3989C>T)
c.*4294C>T (n.*4294C>T)
c.*4025C>T (n.*4025C>T)
c.3626C>T (p.Ser1209Phe)
c.2722+526C>T
c.3977C>T (p.Ser1326Phe)
c.2956C>T
n.1051C>T
n.3261C>T
n.4084C>T
c.4094C>T (p.Ser1365Phe)
c.4073C>T (p.Ser1358Phe)
c.4055C>T (p.Ser1352Phe)
c.4037C>T (p.Ser1346Phe)
c.3998C>T (p.Ser1333Phe)
c.3959C>T (p.Ser1320Phe)
c.3683C>T (p.Ser1228Phe)
c.3644C>T (p.Ser1215Phe)
c.4034C>T (p.Ser1345Phe)
c.3941C>T (p.Ser1314Phe)
c.3416C>T (p.Ser1139Phe)
c.3731C>T (p.Ser1244Phe)
n.8303C>T
3g.9475683C>ACA432528875SETD5n.2876C>A
c.4017C>A (p.Ser1339=)
n.4910C>A
n.2301C>A
n.6163C>A
c.3921C>A (p.Ser1307=)
c.*4067C>A (n.*4067C>A)
c.*3990C>A (n.*3990C>A)
c.*4295C>A (n.*4295C>A)
c.*4026C>A (n.*4026C>A)
c.3627C>A (p.Ser1209=)
c.2722+527C>A
c.3978C>A (p.Ser1326=)
c.2957C>A
n.1052C>A
n.3262C>A
n.4085C>A
c.4095C>A (p.Ser1365=)
c.4074C>A (p.Ser1358=)
c.4056C>A (p.Ser1352=)
c.4038C>A (p.Ser1346=)
c.3999C>A (p.Ser1333=)
c.3960C>A (p.Ser1320=)
c.3684C>A (p.Ser1228=)
c.3645C>A (p.Ser1215=)
c.4035C>A (p.Ser1345=)
c.3942C>A (p.Ser1314=)
c.3417C>A (p.Ser1139=)
c.3732C>A (p.Ser1244=)
n.8304C>A
3g.9475683C>GCA432528878SETD5n.2876C>G
c.4017C>G (p.Ser1339=)
n.4910C>G
n.2301C>G
n.6163C>G
c.3921C>G (p.Ser1307=)
c.*4067C>G (n.*4067C>G)
c.*3990C>G (n.*3990C>G)
c.*4295C>G (n.*4295C>G)
c.*4026C>G (n.*4026C>G)
c.3627C>G (p.Ser1209=)
c.2722+527C>G
c.3978C>G (p.Ser1326=)
c.2957C>G
n.1052C>G
n.3262C>G
n.4085C>G
c.4095C>G (p.Ser1365=)
c.4074C>G (p.Ser1358=)
c.4056C>G (p.Ser1352=)
c.4038C>G (p.Ser1346=)
c.3999C>G (p.Ser1333=)
c.3960C>G (p.Ser1320=)
c.3684C>G (p.Ser1228=)
c.3645C>G (p.Ser1215=)
c.4035C>G (p.Ser1345=)
c.3942C>G (p.Ser1314=)
c.3417C>G (p.Ser1139=)
c.3732C>G (p.Ser1244=)
n.8304C>G
3g.9475683C>TCA432528880SETD5n.2876C>T
c.4017C>T (p.Ser1339=)
n.4910C>T
n.2301C>T
n.6163C>T
c.3921C>T (p.Ser1307=)
c.*4067C>T (n.*4067C>T)
c.*3990C>T (n.*3990C>T)
c.*4295C>T (n.*4295C>T)
c.*4026C>T (n.*4026C>T)
c.3627C>T (p.Ser1209=)
c.2722+527C>T
c.3978C>T (p.Ser1326=)
c.2957C>T
n.1052C>T
n.3262C>T
n.4085C>T
c.4095C>T (p.Ser1365=)
c.4074C>T (p.Ser1358=)
c.4056C>T (p.Ser1352=)
c.4038C>T (p.Ser1346=)
c.3999C>T (p.Ser1333=)
c.3960C>T (p.Ser1320=)
c.3684C>T (p.Ser1228=)
c.3645C>T (p.Ser1215=)
c.4035C>T (p.Ser1345=)
c.3942C>T (p.Ser1314=)
c.3417C>T (p.Ser1139=)
c.3732C>T (p.Ser1244=)
n.8304C>T
3g.9475684A=CA1344742645SETD5n.2877A=
c.4018A= (p.Thr1340=)
n.4911A=
n.2302A=
n.6164A=
c.3922A= (p.Thr1308=)
c.*4068A= (n.*4068A=)
c.*3991A= (n.*3991A=)
c.*4296A= (n.*4296A=)
c.*4027A= (n.*4027A=)
c.3628A= (p.Thr1210=)
c.2722+528A=
c.3979A= (p.Thr1327=)
c.2958A=
n.1053A=
n.3263A=
n.4086A=
c.4096A= (p.Thr1366=)
c.4075A= (p.Thr1359=)
c.4057A= (p.Thr1353=)
c.4039A= (p.Thr1347=)
c.4000A= (p.Thr1334=)
c.3961A= (p.Thr1321=)
c.3685A= (p.Thr1229=)
c.3646A= (p.Thr1216=)
c.4036A= (p.Thr1346=)
c.3943A= (p.Thr1315=)
c.3418A= (p.Thr1140=)
c.3733A= (p.Thr1245=)
n.8305A=
3g.9475684A>CCA351692593SETD5n.2877A>C
c.4018A>C (p.Thr1340Pro)
n.4911A>C
n.2302A>C
n.6164A>C
c.3922A>C (p.Thr1308Pro)
c.*4068A>C (n.*4068A>C)
c.*3991A>C (n.*3991A>C)
c.*4296A>C (n.*4296A>C)
c.*4027A>C (n.*4027A>C)
c.3628A>C (p.Thr1210Pro)
c.2722+528A>C
c.3979A>C (p.Thr1327Pro)
c.2958A>C
n.1053A>C
n.3263A>C
n.4086A>C
c.4096A>C (p.Thr1366Pro)
c.4075A>C (p.Thr1359Pro)
c.4057A>C (p.Thr1353Pro)
c.4039A>C (p.Thr1347Pro)
c.4000A>C (p.Thr1334Pro)
c.3961A>C (p.Thr1321Pro)
c.3685A>C (p.Thr1229Pro)
c.3646A>C (p.Thr1216Pro)
c.4036A>C (p.Thr1346Pro)
c.3943A>C (p.Thr1315Pro)
c.3418A>C (p.Thr1140Pro)
c.3733A>C (p.Thr1245Pro)
n.8305A>C
3g.9475684A>GCA351692595SETD5n.2877A>G
c.4018A>G (p.Thr1340Ala)
n.4911A>G
n.2302A>G
n.6164A>G
c.3922A>G (p.Thr1308Ala)
c.*4068A>G (n.*4068A>G)
c.*3991A>G (n.*3991A>G)
c.*4296A>G (n.*4296A>G)
c.*4027A>G (n.*4027A>G)
c.3628A>G (p.Thr1210Ala)
c.2722+528A>G
c.3979A>G (p.Thr1327Ala)
c.2958A>G
n.1053A>G
n.3263A>G
n.4086A>G
c.4096A>G (p.Thr1366Ala)
c.4075A>G (p.Thr1359Ala)
c.4057A>G (p.Thr1353Ala)
c.4039A>G (p.Thr1347Ala)
c.4000A>G (p.Thr1334Ala)
c.3961A>G (p.Thr1321Ala)
c.3685A>G (p.Thr1229Ala)
c.3646A>G (p.Thr1216Ala)
c.4036A>G (p.Thr1346Ala)
c.3943A>G (p.Thr1315Ala)
c.3418A>G (p.Thr1140Ala)
c.3733A>G (p.Thr1245Ala)
n.8305A>G
 dbSNP gnomAD v3 gnomAD v4
3g.9475684A>TCA351692594SETD5n.2877A>T
c.4018A>T (p.Thr1340Ser)
n.4911A>T
n.2302A>T
n.6164A>T
c.3922A>T (p.Thr1308Ser)
c.*4068A>T (n.*4068A>T)
c.*3991A>T (n.*3991A>T)
c.*4296A>T (n.*4296A>T)
c.*4027A>T (n.*4027A>T)
c.3628A>T (p.Thr1210Ser)
c.2722+528A>T
c.3979A>T (p.Thr1327Ser)
c.2958A>T
n.1053A>T
n.3263A>T
n.4086A>T
c.4096A>T (p.Thr1366Ser)
c.4075A>T (p.Thr1359Ser)
c.4057A>T (p.Thr1353Ser)
c.4039A>T (p.Thr1347Ser)
c.4000A>T (p.Thr1334Ser)
c.3961A>T (p.Thr1321Ser)
c.3685A>T (p.Thr1229Ser)
c.3646A>T (p.Thr1216Ser)
c.4036A>T (p.Thr1346Ser)
c.3943A>T (p.Thr1315Ser)
c.3418A>T (p.Thr1140Ser)
c.3733A>T (p.Thr1245Ser)
n.8305A>T
3g.9475684_9475706delinsCATTTACGCA2580070740SETD5n.2877_2899delinsCATTTACG
c.4018_4040delinsCATTTACG (p.Thr1340_Thr1347delinsHisLeuArg)
n.4911_4933delinsCATTTACG
n.2302_2324delinsCATTTACG
n.6164_6186delinsCATTTACG
c.3922_3944delinsCATTTACG (p.Thr1308_Thr1315delinsHisLeuArg)
c.*4068_*4090delinsCATTTACG (n.*4068_*4090delinsCATTTACG)
c.*3991_*4013delinsCATTTACG (n.*3991_*4013delinsCATTTACG)
c.*4296_*4318delinsCATTTACG (n.*4296_*4318delinsCATTTACG)
c.*4027_*4049delinsCATTTACG (n.*4027_*4049delinsCATTTACG)
c.3628_3650delinsCATTTACG (p.Thr1210_Thr1217delinsHisLeuArg)
c.2722+528_2722+550delinsCATTTACG
c.3979_4001delinsCATTTACG (p.Thr1327_Thr1334delinsHisLeuArg)
c.2958_2980delinsCATTTACG
n.3263_3285delinsCATTTACG
n.4086_4108delinsCATTTACG
c.4096_4118delinsCATTTACG (p.Thr1366_Thr1373delinsHisLeuArg)
c.4075_4097delinsCATTTACG (p.Thr1359_Thr1366delinsHisLeuArg)
c.4057_4079delinsCATTTACG (p.Thr1353_Thr1360delinsHisLeuArg)
c.4039_4061delinsCATTTACG (p.Thr1347_Thr1354delinsHisLeuArg)
c.4000_4022delinsCATTTACG (p.Thr1334_Thr1341delinsHisLeuArg)
c.3961_3983delinsCATTTACG (p.Thr1321_Thr1328delinsHisLeuArg)
c.3685_3707delinsCATTTACG (p.Thr1229_Thr1236delinsHisLeuArg)
c.3646_3668delinsCATTTACG (p.Thr1216_Thr1223delinsHisLeuArg)
c.4036_4058delinsCATTTACG (p.Thr1346_Thr1353delinsHisLeuArg)
c.3943_3965delinsCATTTACG (p.Thr1315_Thr1322delinsHisLeuArg)
c.3418_3440delinsCATTTACG (p.Thr1140_Thr1147delinsHisLeuArg)
c.3733_3755delinsCATTTACG (p.Thr1245_Thr1252delinsHisLeuArg)
n.8305_8327delinsCATTTACG
 ClinVar
3g.9475685C>ACA351692605SETD5n.2878C>A
c.4019C>A (p.Thr1340Lys)
n.4912C>A
n.2303C>A
n.6165C>A
c.3923C>A (p.Thr1308Lys)
c.*4069C>A (n.*4069C>A)
c.*3992C>A (n.*3992C>A)
c.*4297C>A (n.*4297C>A)
c.*4028C>A (n.*4028C>A)
c.3629C>A (p.Thr1210Lys)
c.2722+529C>A
c.3980C>A (p.Thr1327Lys)
c.2959C>A
n.1054C>A
n.3264C>A
n.4087C>A
c.4097C>A (p.Thr1366Lys)
c.4076C>A (p.Thr1359Lys)
c.4058C>A (p.Thr1353Lys)
c.4040C>A (p.Thr1347Lys)
c.4001C>A (p.Thr1334Lys)
c.3962C>A (p.Thr1321Lys)
c.3686C>A (p.Thr1229Lys)
c.3647C>A (p.Thr1216Lys)
c.4037C>A (p.Thr1346Lys)
c.3944C>A (p.Thr1315Lys)
c.3419C>A (p.Thr1140Lys)
c.3734C>A (p.Thr1245Lys)
n.8306C>A
3g.9475685C=CA1344742651SETD5n.2878C=
c.4019C= (p.Thr1340=)
n.4912C=
n.2303C=
n.6165C=
c.3923C= (p.Thr1308=)
c.*4069C= (n.*4069C=)
c.*3992C= (n.*3992C=)
c.*4297C= (n.*4297C=)
c.*4028C= (n.*4028C=)
c.3629C= (p.Thr1210=)
c.2722+529C=
c.3980C= (p.Thr1327=)
c.2959C=
n.1054C=
n.3264C=
n.4087C=
c.4097C= (p.Thr1366=)
c.4076C= (p.Thr1359=)
c.4058C= (p.Thr1353=)
c.4040C= (p.Thr1347=)
c.4001C= (p.Thr1334=)
c.3962C= (p.Thr1321=)
c.3686C= (p.Thr1229=)
c.3647C= (p.Thr1216=)
c.4037C= (p.Thr1346=)
c.3944C= (p.Thr1315=)
c.3419C= (p.Thr1140=)
c.3734C= (p.Thr1245=)
n.8306C=
3g.9475685C>GCA69951973SETD5n.2878C>G
c.4019C>G (p.Thr1340Arg)
n.4912C>G
n.2303C>G
n.6165C>G
c.3923C>G (p.Thr1308Arg)
c.*4069C>G (n.*4069C>G)
c.*3992C>G (n.*3992C>G)
c.*4297C>G (n.*4297C>G)
c.*4028C>G (n.*4028C>G)
c.3629C>G (p.Thr1210Arg)
c.2722+529C>G
c.3980C>G (p.Thr1327Arg)
c.2959C>G
n.1054C>G
n.3264C>G
n.4087C>G
c.4097C>G (p.Thr1366Arg)
c.4076C>G (p.Thr1359Arg)
c.4058C>G (p.Thr1353Arg)
c.4040C>G (p.Thr1347Arg)
c.4001C>G (p.Thr1334Arg)
c.3962C>G (p.Thr1321Arg)
c.3686C>G (p.Thr1229Arg)
c.3647C>G (p.Thr1216Arg)
c.4037C>G (p.Thr1346Arg)
c.3944C>G (p.Thr1315Arg)
c.3419C>G (p.Thr1140Arg)
c.3734C>G (p.Thr1245Arg)
n.8306C>G
 dbSNP
3g.9475685C>TCA2239831SETD5n.2878C>T
c.4019C>T (p.Thr1340Ile)
n.4912C>T
n.2303C>T
n.6165C>T
c.3923C>T (p.Thr1308Ile)
c.*4069C>T (n.*4069C>T)
c.*3992C>T (n.*3992C>T)
c.*4297C>T (n.*4297C>T)
c.*4028C>T (n.*4028C>T)
c.3629C>T (p.Thr1210Ile)
c.2722+529C>T
c.3980C>T (p.Thr1327Ile)
c.2959C>T
n.1054C>T
n.3264C>T
n.4087C>T
c.4097C>T (p.Thr1366Ile)
c.4076C>T (p.Thr1359Ile)
c.4058C>T (p.Thr1353Ile)
c.4040C>T (p.Thr1347Ile)
c.4001C>T (p.Thr1334Ile)
c.3962C>T (p.Thr1321Ile)
c.3686C>T (p.Thr1229Ile)
c.3647C>T (p.Thr1216Ile)
c.4037C>T (p.Thr1346Ile)
c.3944C>T (p.Thr1315Ile)
c.3419C>T (p.Thr1140Ile)
c.3734C>T (p.Thr1245Ile)
n.8306C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475686A>CCA432528889SETD5n.2879A>C
c.4020A>C (p.Thr1340=)
n.4913A>C
n.2304A>C
n.6166A>C
c.3924A>C (p.Thr1308=)
c.*4070A>C (n.*4070A>C)
c.*3993A>C (n.*3993A>C)
c.*4298A>C (n.*4298A>C)
c.*4029A>C (n.*4029A>C)
c.3630A>C (p.Thr1210=)
c.2722+530A>C
c.3981A>C (p.Thr1327=)
c.2960A>C
n.1055A>C
n.3265A>C
n.4088A>C
c.4098A>C (p.Thr1366=)
c.4077A>C (p.Thr1359=)
c.4059A>C (p.Thr1353=)
c.4041A>C (p.Thr1347=)
c.4002A>C (p.Thr1334=)
c.3963A>C (p.Thr1321=)
c.3687A>C (p.Thr1229=)
c.3648A>C (p.Thr1216=)
c.4038A>C (p.Thr1346=)
c.3945A>C (p.Thr1315=)
c.3420A>C (p.Thr1140=)
c.3735A>C (p.Thr1245=)
n.8307A>C
3g.9475686A>GCA432528891SETD5n.2879A>G
c.4020A>G (p.Thr1340=)
n.4913A>G
n.2304A>G
n.6166A>G
c.3924A>G (p.Thr1308=)
c.*4070A>G (n.*4070A>G)
c.*3993A>G (n.*3993A>G)
c.*4298A>G (n.*4298A>G)
c.*4029A>G (n.*4029A>G)
c.3630A>G (p.Thr1210=)
c.2722+530A>G
c.3981A>G (p.Thr1327=)
c.2960A>G
n.1055A>G
n.3265A>G
n.4088A>G
c.4098A>G (p.Thr1366=)
c.4077A>G (p.Thr1359=)
c.4059A>G (p.Thr1353=)
c.4041A>G (p.Thr1347=)
c.4002A>G (p.Thr1334=)
c.3963A>G (p.Thr1321=)
c.3687A>G (p.Thr1229=)
c.3648A>G (p.Thr1216=)
c.4038A>G (p.Thr1346=)
c.3945A>G (p.Thr1315=)
c.3420A>G (p.Thr1140=)
c.3735A>G (p.Thr1245=)
n.8307A>G
3g.9475686A>TCA432528894SETD5n.2879A>T
c.4020A>T (p.Thr1340=)
n.4913A>T
n.2304A>T
n.6166A>T
c.3924A>T (p.Thr1308=)
c.*4070A>T (n.*4070A>T)
c.*3993A>T (n.*3993A>T)
c.*4298A>T (n.*4298A>T)
c.*4029A>T (n.*4029A>T)
c.3630A>T (p.Thr1210=)
c.2722+530A>T
c.3981A>T (p.Thr1327=)
c.2960A>T
n.1055A>T
n.3265A>T
n.4088A>T
c.4098A>T (p.Thr1366=)
c.4077A>T (p.Thr1359=)
c.4059A>T (p.Thr1353=)
c.4041A>T (p.Thr1347=)
c.4002A>T (p.Thr1334=)
c.3963A>T (p.Thr1321=)
c.3687A>T (p.Thr1229=)
c.3648A>T (p.Thr1216=)
c.4038A>T (p.Thr1346=)
c.3945A>T (p.Thr1315=)
c.3420A>T (p.Thr1140=)
c.3735A>T (p.Thr1245=)
n.8307A>T
3g.9475687G>ACA351692615SETD5n.2880G>A
c.4021G>A (p.Asp1341Asn)
n.4914G>A
n.2305G>A
n.6167G>A
c.3925G>A (p.Asp1309Asn)
c.*4071G>A (n.*4071G>A)
c.*3994G>A (n.*3994G>A)
c.*4299G>A (n.*4299G>A)
c.*4030G>A (n.*4030G>A)
c.3631G>A (p.Asp1211Asn)
c.2722+531G>A
c.3982G>A (p.Asp1328Asn)
c.2961G>A
n.1056G>A
n.3266G>A
n.4089G>A
c.4099G>A (p.Asp1367Asn)
c.4078G>A (p.Asp1360Asn)
c.4060G>A (p.Asp1354Asn)
c.4042G>A (p.Asp1348Asn)
c.4003G>A (p.Asp1335Asn)
c.3964G>A (p.Asp1322Asn)
c.3688G>A (p.Asp1230Asn)
c.3649G>A (p.Asp1217Asn)
c.4039G>A (p.Asp1347Asn)
c.3946G>A (p.Asp1316Asn)
c.3421G>A (p.Asp1141Asn)
c.3736G>A (p.Asp1246Asn)
n.8308G>A
3g.9475687G>CCA351692618SETD5n.2880G>C
c.4021G>C (p.Asp1341His)
n.4914G>C
n.2305G>C
n.6167G>C
c.3925G>C (p.Asp1309His)
c.*4071G>C (n.*4071G>C)
c.*3994G>C (n.*3994G>C)
c.*4299G>C (n.*4299G>C)
c.*4030G>C (n.*4030G>C)
c.3631G>C (p.Asp1211His)
c.2722+531G>C
c.3982G>C (p.Asp1328His)
c.2961G>C
n.1056G>C
n.3266G>C
n.4089G>C
c.4099G>C (p.Asp1367His)
c.4078G>C (p.Asp1360His)
c.4060G>C (p.Asp1354His)
c.4042G>C (p.Asp1348His)
c.4003G>C (p.Asp1335His)
c.3964G>C (p.Asp1322His)
c.3688G>C (p.Asp1230His)
c.3649G>C (p.Asp1217His)
c.4039G>C (p.Asp1347His)
c.3946G>C (p.Asp1316His)
c.3421G>C (p.Asp1141His)
c.3736G>C (p.Asp1246His)
n.8308G>C
3g.9475687G>TCA351692621SETD5n.2880G>T
c.4021G>T (p.Asp1341Tyr)
n.4914G>T
n.2305G>T
n.6167G>T
c.3925G>T (p.Asp1309Tyr)
c.*4071G>T (n.*4071G>T)
c.*3994G>T (n.*3994G>T)
c.*4299G>T (n.*4299G>T)
c.*4030G>T (n.*4030G>T)
c.3631G>T (p.Asp1211Tyr)
c.2722+531G>T
c.3982G>T (p.Asp1328Tyr)
c.2961G>T
n.1056G>T
n.3266G>T
n.4089G>T
c.4099G>T (p.Asp1367Tyr)
c.4078G>T (p.Asp1360Tyr)
c.4060G>T (p.Asp1354Tyr)
c.4042G>T (p.Asp1348Tyr)
c.4003G>T (p.Asp1335Tyr)
c.3964G>T (p.Asp1322Tyr)
c.3688G>T (p.Asp1230Tyr)
c.3649G>T (p.Asp1217Tyr)
c.4039G>T (p.Asp1347Tyr)
c.3946G>T (p.Asp1316Tyr)
c.3421G>T (p.Asp1141Tyr)
c.3736G>T (p.Asp1246Tyr)
n.8308G>T
3g.9475688A=CA1344742654SETD5n.2881A=
c.4022A= (p.Asp1341=)
n.4915A=
n.2306A=
n.6168A=
c.3926A= (p.Asp1309=)
c.*4072A= (n.*4072A=)
c.*3995A= (n.*3995A=)
c.*4300A= (n.*4300A=)
c.*4031A= (n.*4031A=)
c.3632A= (p.Asp1211=)
c.2722+532A=
c.3983A= (p.Asp1328=)
c.2962A=
n.1057A=
n.3267A=
n.4090A=
c.4100A= (p.Asp1367=)
c.4079A= (p.Asp1360=)
c.4061A= (p.Asp1354=)
c.4043A= (p.Asp1348=)
c.4004A= (p.Asp1335=)
c.3965A= (p.Asp1322=)
c.3689A= (p.Asp1230=)
c.3650A= (p.Asp1217=)
c.4040A= (p.Asp1347=)
c.3947A= (p.Asp1316=)
c.3422A= (p.Asp1141=)
c.3737A= (p.Asp1246=)
n.8309A=
3g.9475688A>CCA351692657SETD5n.2881A>C
c.4022A>C (p.Asp1341Ala)
n.4915A>C
n.2306A>C
n.6168A>C
c.3926A>C (p.Asp1309Ala)
c.*4072A>C (n.*4072A>C)
c.*3995A>C (n.*3995A>C)
c.*4300A>C (n.*4300A>C)
c.*4031A>C (n.*4031A>C)
c.3632A>C (p.Asp1211Ala)
c.2722+532A>C
c.3983A>C (p.Asp1328Ala)
c.2962A>C
n.1057A>C
n.3267A>C
n.4090A>C
c.4100A>C (p.Asp1367Ala)
c.4079A>C (p.Asp1360Ala)
c.4061A>C (p.Asp1354Ala)
c.4043A>C (p.Asp1348Ala)
c.4004A>C (p.Asp1335Ala)
c.3965A>C (p.Asp1322Ala)
c.3689A>C (p.Asp1230Ala)
c.3650A>C (p.Asp1217Ala)
c.4040A>C (p.Asp1347Ala)
c.3947A>C (p.Asp1316Ala)
c.3422A>C (p.Asp1141Ala)
c.3737A>C (p.Asp1246Ala)
n.8309A>C
3g.9475688A>GCA351692663SETD5n.2881A>G
c.4022A>G (p.Asp1341Gly)
n.4915A>G
n.2306A>G
n.6168A>G
c.3926A>G (p.Asp1309Gly)
c.*4072A>G (n.*4072A>G)
c.*3995A>G (n.*3995A>G)
c.*4300A>G (n.*4300A>G)
c.*4031A>G (n.*4031A>G)
c.3632A>G (p.Asp1211Gly)
c.2722+532A>G
c.3983A>G (p.Asp1328Gly)
c.2962A>G
n.1057A>G
n.3267A>G
n.4090A>G
c.4100A>G (p.Asp1367Gly)
c.4079A>G (p.Asp1360Gly)
c.4061A>G (p.Asp1354Gly)
c.4043A>G (p.Asp1348Gly)
c.4004A>G (p.Asp1335Gly)
c.3965A>G (p.Asp1322Gly)
c.3689A>G (p.Asp1230Gly)
c.3650A>G (p.Asp1217Gly)
c.4040A>G (p.Asp1347Gly)
c.3947A>G (p.Asp1316Gly)
c.3422A>G (p.Asp1141Gly)
c.3737A>G (p.Asp1246Gly)
n.8309A>G
 dbSNP gnomAD v3 gnomAD v4
3g.9475688A>TCA351692669SETD5n.2881A>T
c.4022A>T (p.Asp1341Val)
n.4915A>T
n.2306A>T
n.6168A>T
c.3926A>T (p.Asp1309Val)
c.*4072A>T (n.*4072A>T)
c.*3995A>T (n.*3995A>T)
c.*4300A>T (n.*4300A>T)
c.*4031A>T (n.*4031A>T)
c.3632A>T (p.Asp1211Val)
c.2722+532A>T
c.3983A>T (p.Asp1328Val)
c.2962A>T
n.1057A>T
n.3267A>T
n.4090A>T
c.4100A>T (p.Asp1367Val)
c.4079A>T (p.Asp1360Val)
c.4061A>T (p.Asp1354Val)
c.4043A>T (p.Asp1348Val)
c.4004A>T (p.Asp1335Val)
c.3965A>T (p.Asp1322Val)
c.3689A>T (p.Asp1230Val)
c.3650A>T (p.Asp1217Val)
c.4040A>T (p.Asp1347Val)
c.3947A>T (p.Asp1316Val)
c.3422A>T (p.Asp1141Val)
c.3737A>T (p.Asp1246Val)
n.8309A>T
3g.9475689C>ACA351692674SETD5n.2882C>A
c.4023C>A (p.Asp1341Glu)
n.4916C>A
n.2307C>A
n.6169C>A
c.3927C>A (p.Asp1309Glu)
c.*4073C>A (n.*4073C>A)
c.*3996C>A (n.*3996C>A)
c.*4301C>A (n.*4301C>A)
c.*4032C>A (n.*4032C>A)
c.3633C>A (p.Asp1211Glu)
c.2722+533C>A
c.3984C>A (p.Asp1328Glu)
c.2963C>A
n.1058C>A
n.3268C>A
n.4091C>A
c.4101C>A (p.Asp1367Glu)
c.4080C>A (p.Asp1360Glu)
c.4062C>A (p.Asp1354Glu)
c.4044C>A (p.Asp1348Glu)
c.4005C>A (p.Asp1335Glu)
c.3966C>A (p.Asp1322Glu)
c.3690C>A (p.Asp1230Glu)
c.3651C>A (p.Asp1217Glu)
c.4041C>A (p.Asp1347Glu)
c.3948C>A (p.Asp1316Glu)
c.3423C>A (p.Asp1141Glu)
c.3738C>A (p.Asp1246Glu)
n.8310C>A
3g.9475689C=CA1344742658SETD5n.2882C=
c.4023C= (p.Asp1341=)
n.4916C=
n.2307C=
n.6169C=
c.3927C= (p.Asp1309=)
c.*4073C= (n.*4073C=)
c.*3996C= (n.*3996C=)
c.*4301C= (n.*4301C=)
c.*4032C= (n.*4032C=)
c.3633C= (p.Asp1211=)
c.2722+533C=
c.3984C= (p.Asp1328=)
c.2963C=
n.1058C=
n.3268C=
n.4091C=
c.4101C= (p.Asp1367=)
c.4080C= (p.Asp1360=)
c.4062C= (p.Asp1354=)
c.4044C= (p.Asp1348=)
c.4005C= (p.Asp1335=)
c.3966C= (p.Asp1322=)
c.3690C= (p.Asp1230=)
c.3651C= (p.Asp1217=)
c.4041C= (p.Asp1347=)
c.3948C= (p.Asp1316=)
c.3423C= (p.Asp1141=)
c.3738C= (p.Asp1246=)
n.8310C=
3g.9475689C>GCA351692676SETD5n.2882C>G
c.4023C>G (p.Asp1341Glu)
n.4916C>G
n.2307C>G
n.6169C>G
c.3927C>G (p.Asp1309Glu)
c.*4073C>G (n.*4073C>G)
c.*3996C>G (n.*3996C>G)
c.*4301C>G (n.*4301C>G)
c.*4032C>G (n.*4032C>G)
c.3633C>G (p.Asp1211Glu)
c.2722+533C>G
c.3984C>G (p.Asp1328Glu)
c.2963C>G
n.1058C>G
n.3268C>G
n.4091C>G
c.4101C>G (p.Asp1367Glu)
c.4080C>G (p.Asp1360Glu)
c.4062C>G (p.Asp1354Glu)
c.4044C>G (p.Asp1348Glu)
c.4005C>G (p.Asp1335Glu)
c.3966C>G (p.Asp1322Glu)
c.3690C>G (p.Asp1230Glu)
c.3651C>G (p.Asp1217Glu)
c.4041C>G (p.Asp1347Glu)
c.3948C>G (p.Asp1316Glu)
c.3423C>G (p.Asp1141Glu)
c.3738C>G (p.Asp1246Glu)
n.8310C>G
 dbSNP gnomAD v3 gnomAD v4
3g.9475689C>TCA432528903SETD5n.2882C>T
c.4023C>T (p.Asp1341=)
n.4916C>T
n.2307C>T
n.6169C>T
c.3927C>T (p.Asp1309=)
c.*4073C>T (n.*4073C>T)
c.*3996C>T (n.*3996C>T)
c.*4301C>T (n.*4301C>T)
c.*4032C>T (n.*4032C>T)
c.3633C>T (p.Asp1211=)
c.2722+533C>T
c.3984C>T (p.Asp1328=)
c.2963C>T
n.1058C>T
n.3268C>T
n.4091C>T
c.4101C>T (p.Asp1367=)
c.4080C>T (p.Asp1360=)
c.4062C>T (p.Asp1354=)
c.4044C>T (p.Asp1348=)
c.4005C>T (p.Asp1335=)
c.3966C>T (p.Asp1322=)
c.3690C>T (p.Asp1230=)
c.3651C>T (p.Asp1217=)
c.4041C>T (p.Asp1347=)
c.3948C>T (p.Asp1316=)
c.3423C>T (p.Asp1141=)
c.3738C>T (p.Asp1246=)
n.8310C>T
 gnomAD v4
3g.9475690T>ACA351692687SETD5n.2883T>A
c.4024T>A (p.Ser1342Thr)
n.4917T>A
n.2308T>A
n.6170T>A
c.3928T>A (p.Ser1310Thr)
c.*4074T>A (n.*4074T>A)
c.*3997T>A (n.*3997T>A)
c.*4302T>A (n.*4302T>A)
c.*4033T>A (n.*4033T>A)
c.3634T>A (p.Ser1212Thr)
c.2722+534T>A
c.3985T>A (p.Ser1329Thr)
c.2964T>A
n.1059T>A
n.3269T>A
n.4092T>A
c.4102T>A (p.Ser1368Thr)
c.4081T>A (p.Ser1361Thr)
c.4063T>A (p.Ser1355Thr)
c.4045T>A (p.Ser1349Thr)
c.4006T>A (p.Ser1336Thr)
c.3967T>A (p.Ser1323Thr)
c.3691T>A (p.Ser1231Thr)
c.3652T>A (p.Ser1218Thr)
c.4042T>A (p.Ser1348Thr)
c.3949T>A (p.Ser1317Thr)
c.3424T>A (p.Ser1142Thr)
c.3739T>A (p.Ser1247Thr)
n.8311T>A
3g.9475690T>CCA351692686SETD5n.2883T>C
c.4024T>C (p.Ser1342Pro)
n.4917T>C
n.2308T>C
n.6170T>C
c.3928T>C (p.Ser1310Pro)
c.*4074T>C (n.*4074T>C)
c.*3997T>C (n.*3997T>C)
c.*4302T>C (n.*4302T>C)
c.*4033T>C (n.*4033T>C)
c.3634T>C (p.Ser1212Pro)
c.2722+534T>C
c.3985T>C (p.Ser1329Pro)
c.2964T>C
n.1059T>C
n.3269T>C
n.4092T>C
c.4102T>C (p.Ser1368Pro)
c.4081T>C (p.Ser1361Pro)
c.4063T>C (p.Ser1355Pro)
c.4045T>C (p.Ser1349Pro)
c.4006T>C (p.Ser1336Pro)
c.3967T>C (p.Ser1323Pro)
c.3691T>C (p.Ser1231Pro)
c.3652T>C (p.Ser1218Pro)
c.4042T>C (p.Ser1348Pro)
c.3949T>C (p.Ser1317Pro)
c.3424T>C (p.Ser1142Pro)
c.3739T>C (p.Ser1247Pro)
n.8311T>C
3g.9475690T>GCA351692679SETD5n.2883T>G
c.4024T>G (p.Ser1342Ala)
n.4917T>G
n.2308T>G
n.6170T>G
c.3928T>G (p.Ser1310Ala)
c.*4074T>G (n.*4074T>G)
c.*3997T>G (n.*3997T>G)
c.*4302T>G (n.*4302T>G)
c.*4033T>G (n.*4033T>G)
c.3634T>G (p.Ser1212Ala)
c.2722+534T>G
c.3985T>G (p.Ser1329Ala)
c.2964T>G
n.1059T>G
n.3269T>G
n.4092T>G
c.4102T>G (p.Ser1368Ala)
c.4081T>G (p.Ser1361Ala)
c.4063T>G (p.Ser1355Ala)
c.4045T>G (p.Ser1349Ala)
c.4006T>G (p.Ser1336Ala)
c.3967T>G (p.Ser1323Ala)
c.3691T>G (p.Ser1231Ala)
c.3652T>G (p.Ser1218Ala)
c.4042T>G (p.Ser1348Ala)
c.3949T>G (p.Ser1317Ala)
c.3424T>G (p.Ser1142Ala)
c.3739T>G (p.Ser1247Ala)
n.8311T>G
3g.9475691C>ACA351692690SETD5n.2884C>A
c.4025C>A (p.Ser1342Ter)
n.4918C>A
n.2309C>A
n.6171C>A
c.3929C>A (p.Ser1310Ter)
c.*4075C>A (n.*4075C>A)
c.*3998C>A (n.*3998C>A)
c.*4303C>A (n.*4303C>A)
c.*4034C>A (n.*4034C>A)
c.3635C>A (p.Ser1212Ter)
c.2722+535C>A
c.3986C>A (p.Ser1329Ter)
c.2965C>A
n.1060C>A
n.3270C>A
n.4093C>A
c.4103C>A (p.Ser1368Ter)
c.4082C>A (p.Ser1361Ter)
c.4064C>A (p.Ser1355Ter)
c.4046C>A (p.Ser1349Ter)
c.4007C>A (p.Ser1336Ter)
c.3968C>A (p.Ser1323Ter)
c.3692C>A (p.Ser1231Ter)
c.3653C>A (p.Ser1218Ter)
c.4043C>A (p.Ser1348Ter)
c.3950C>A (p.Ser1317Ter)
c.3425C>A (p.Ser1142Ter)
c.3740C>A (p.Ser1247Ter)
n.8312C>A
3g.9475691C=CA1344742662SETD5n.2884C=
c.4025C= (p.Ser1342=)
n.4918C=
n.2309C=
n.6171C=
c.3929C= (p.Ser1310=)
c.*4075C= (n.*4075C=)
c.*3998C= (n.*3998C=)
c.*4303C= (n.*4303C=)
c.*4034C= (n.*4034C=)
c.3635C= (p.Ser1212=)
c.2722+535C=
c.3986C= (p.Ser1329=)
c.2965C=
n.1060C=
n.3270C=
n.4093C=
c.4103C= (p.Ser1368=)
c.4082C= (p.Ser1361=)
c.4064C= (p.Ser1355=)
c.4046C= (p.Ser1349=)
c.4007C= (p.Ser1336=)
c.3968C= (p.Ser1323=)
c.3692C= (p.Ser1231=)
c.3653C= (p.Ser1218=)
c.4043C= (p.Ser1348=)
c.3950C= (p.Ser1317=)
c.3425C= (p.Ser1142=)
c.3740C= (p.Ser1247=)
n.8312C=
3g.9475691C>GCA2239833SETD5n.2884C>G
c.4025C>G (p.Ser1342Trp)
n.4918C>G
n.2309C>G
n.6171C>G
c.3929C>G (p.Ser1310Trp)
c.*4075C>G (n.*4075C>G)
c.*3998C>G (n.*3998C>G)
c.*4303C>G (n.*4303C>G)
c.*4034C>G (n.*4034C>G)
c.3635C>G (p.Ser1212Trp)
c.2722+535C>G
c.3986C>G (p.Ser1329Trp)
c.2965C>G
n.1060C>G
n.3270C>G
n.4093C>G
c.4103C>G (p.Ser1368Trp)
c.4082C>G (p.Ser1361Trp)
c.4064C>G (p.Ser1355Trp)
c.4046C>G (p.Ser1349Trp)
c.4007C>G (p.Ser1336Trp)
c.3968C>G (p.Ser1323Trp)
c.3692C>G (p.Ser1231Trp)
c.3653C>G (p.Ser1218Trp)
c.4043C>G (p.Ser1348Trp)
c.3950C>G (p.Ser1317Trp)
c.3425C>G (p.Ser1142Trp)
c.3740C>G (p.Ser1247Trp)
n.8312C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475691C>TCA2239832SETD5n.2884C>T
c.4025C>T (p.Ser1342Leu)
n.4918C>T
n.2309C>T
n.6171C>T
c.3929C>T (p.Ser1310Leu)
c.*4075C>T (n.*4075C>T)
c.*3998C>T (n.*3998C>T)
c.*4303C>T (n.*4303C>T)
c.*4034C>T (n.*4034C>T)
c.3635C>T (p.Ser1212Leu)
c.2722+535C>T
c.3986C>T (p.Ser1329Leu)
c.2965C>T
n.1060C>T
n.3270C>T
n.4093C>T
c.4103C>T (p.Ser1368Leu)
c.4082C>T (p.Ser1361Leu)
c.4064C>T (p.Ser1355Leu)
c.4046C>T (p.Ser1349Leu)
c.4007C>T (p.Ser1336Leu)
c.3968C>T (p.Ser1323Leu)
c.3692C>T (p.Ser1231Leu)
c.3653C>T (p.Ser1218Leu)
c.4043C>T (p.Ser1348Leu)
c.3950C>T (p.Ser1317Leu)
c.3425C>T (p.Ser1142Leu)
c.3740C>T (p.Ser1247Leu)
n.8312C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475692G>ACA2239834SETD5n.2885G>A
c.4026G>A (p.Ser1342=)
n.4919G>A
n.2310G>A
n.6172G>A
c.3930G>A (p.Ser1310=)
c.*4076G>A (n.*4076G>A)
c.*3999G>A (n.*3999G>A)
c.*4304G>A (n.*4304G>A)
c.*4035G>A (n.*4035G>A)
c.3636G>A (p.Ser1212=)
c.2722+536G>A
c.3987G>A (p.Ser1329=)
c.2966G>A
n.1061G>A
n.3271G>A
n.4094G>A
c.4104G>A (p.Ser1368=)
c.4083G>A (p.Ser1361=)
c.4065G>A (p.Ser1355=)
c.4047G>A (p.Ser1349=)
c.4008G>A (p.Ser1336=)
c.3969G>A (p.Ser1323=)
c.3693G>A (p.Ser1231=)
c.3654G>A (p.Ser1218=)
c.4044G>A (p.Ser1348=)
c.3951G>A (p.Ser1317=)
c.3426G>A (p.Ser1142=)
c.3741G>A (p.Ser1247=)
n.8313G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.9475692G>CCA432528910SETD5n.2885G>C
c.4026G>C (p.Ser1342=)
n.4919G>C
n.2310G>C
n.6172G>C
c.3930G>C (p.Ser1310=)
c.*4076G>C (n.*4076G>C)
c.*3999G>C (n.*3999G>C)
c.*4304G>C (n.*4304G>C)
c.*4035G>C (n.*4035G>C)
c.3636G>C (p.Ser1212=)
c.2722+536G>C
c.3987G>C (p.Ser1329=)
c.2966G>C
n.1061G>C
n.3271G>C
n.4094G>C
c.4104G>C (p.Ser1368=)
c.4083G>C (p.Ser1361=)
c.4065G>C (p.Ser1355=)
c.4047G>C (p.Ser1349=)
c.4008G>C (p.Ser1336=)
c.3969G>C (p.Ser1323=)
c.3693G>C (p.Ser1231=)
c.3654G>C (p.Ser1218=)
c.4044G>C (p.Ser1348=)
c.3951G>C (p.Ser1317=)
c.3426G>C (p.Ser1142=)
c.3741G>C (p.Ser1247=)
n.8313G>C
 dbSNP gnomAD v4
3g.9475692G=CA1344742674SETD5n.2885G=
c.4026G= (p.Ser1342=)
n.4919G=
n.2310G=
n.6172G=
c.3930G= (p.Ser1310=)
c.*4076G= (n.*4076G=)
c.*3999G= (n.*3999G=)
c.*4304G= (n.*4304G=)
c.*4035G= (n.*4035G=)
c.3636G= (p.Ser1212=)
c.2722+536G=
c.3987G= (p.Ser1329=)
c.2966G=
n.1061G=
n.3271G=
n.4094G=
c.4104G= (p.Ser1368=)
c.4083G= (p.Ser1361=)
c.4065G= (p.Ser1355=)
c.4047G= (p.Ser1349=)
c.4008G= (p.Ser1336=)
c.3969G= (p.Ser1323=)
c.3693G= (p.Ser1231=)
c.3654G= (p.Ser1218=)
c.4044G= (p.Ser1348=)
c.3951G= (p.Ser1317=)
c.3426G= (p.Ser1142=)
c.3741G= (p.Ser1247=)
n.8313G=
3g.9475692G>TCA432528911SETD5n.2885G>T
c.4026G>T (p.Ser1342=)
n.4919G>T
n.2310G>T
n.6172G>T
c.3930G>T (p.Ser1310=)
c.*4076G>T (n.*4076G>T)
c.*3999G>T (n.*3999G>T)
c.*4304G>T (n.*4304G>T)
c.*4035G>T (n.*4035G>T)
c.3636G>T (p.Ser1212=)
c.2722+536G>T
c.3987G>T (p.Ser1329=)
c.2966G>T
n.1061G>T
n.3271G>T
n.4094G>T
c.4104G>T (p.Ser1368=)
c.4083G>T (p.Ser1361=)
c.4065G>T (p.Ser1355=)
c.4047G>T (p.Ser1349=)
c.4008G>T (p.Ser1336=)
c.3969G>T (p.Ser1323=)
c.3693G>T (p.Ser1231=)
c.3654G>T (p.Ser1218=)
c.4044G>T (p.Ser1348=)
c.3951G>T (p.Ser1317=)
c.3426G>T (p.Ser1142=)
c.3741G>T (p.Ser1247=)
n.8313G>T
3g.9475693_9475695delCA2664308748SETD5n.2886_2888del
c.4027_4029del (p.Leu1343del)
n.4920_4922del
n.2311_2313del
n.6173_6175del
c.3931_3933del (p.Leu1311del)
c.*4077_*4079del (n.*4077_*4079del)
c.*4000_*4002del (n.*4000_*4002del)
c.*4305_*4307del (n.*4305_*4307del)
c.*4036_*4038del (n.*4036_*4038del)
c.3637_3639del (p.Leu1213del)
c.2722+537_2722+539del
c.3988_3990del (p.Leu1330del)
c.2967_2969del
n.1062_1064del
n.3272_3274del
n.4095_4097del
c.4105_4107del (p.Leu1369del)
c.4084_4086del (p.Leu1362del)
c.4066_4068del (p.Leu1356del)
c.4048_4050del (p.Leu1350del)
c.4009_4011del (p.Leu1337del)
c.3970_3972del (p.Leu1324del)
c.3694_3696del (p.Leu1232del)
c.3655_3657del (p.Leu1219del)
c.4045_4047del (p.Leu1349del)
c.3952_3954del (p.Leu1318del)
c.3427_3429del (p.Leu1143del)
c.3742_3744del (p.Leu1248del)
n.8314_8316del
 gnomAD v4
3g.9475693T>ACA351692707SETD5n.2886T>A
c.4027T>A (p.Leu1343Met)
n.4920T>A
n.2311T>A
n.6173T>A
c.3931T>A (p.Leu1311Met)
c.*4077T>A (n.*4077T>A)
c.*4000T>A (n.*4000T>A)
c.*4305T>A (n.*4305T>A)
c.*4036T>A (n.*4036T>A)
c.3637T>A (p.Leu1213Met)
c.2722+537T>A
c.3988T>A (p.Leu1330Met)
c.2967T>A
n.1062T>A
n.3272T>A
n.4095T>A
c.4105T>A (p.Leu1369Met)
c.4084T>A (p.Leu1362Met)
c.4066T>A (p.Leu1356Met)
c.4048T>A (p.Leu1350Met)
c.4009T>A (p.Leu1337Met)
c.3970T>A (p.Leu1324Met)
c.3694T>A (p.Leu1232Met)
c.3655T>A (p.Leu1219Met)
c.4045T>A (p.Leu1349Met)
c.3952T>A (p.Leu1318Met)
c.3427T>A (p.Leu1143Met)
c.3742T>A (p.Leu1248Met)
n.8314T>A
3g.9475693T>CCA432528913SETD5n.2886T>C
c.4027T>C (p.Leu1343=)
n.4920T>C
n.2311T>C
n.6173T>C
c.3931T>C (p.Leu1311=)
c.*4077T>C (n.*4077T>C)
c.*4000T>C (n.*4000T>C)
c.*4305T>C (n.*4305T>C)
c.*4036T>C (n.*4036T>C)
c.3637T>C (p.Leu1213=)
c.2722+537T>C
c.3988T>C (p.Leu1330=)
c.2967T>C
n.1062T>C
n.3272T>C
n.4095T>C
c.4105T>C (p.Leu1369=)
c.4084T>C (p.Leu1362=)
c.4066T>C (p.Leu1356=)
c.4048T>C (p.Leu1350=)
c.4009T>C (p.Leu1337=)
c.3970T>C (p.Leu1324=)
c.3694T>C (p.Leu1232=)
c.3655T>C (p.Leu1219=)
c.4045T>C (p.Leu1349=)
c.3952T>C (p.Leu1318=)
c.3427T>C (p.Leu1143=)
c.3742T>C (p.Leu1248=)
n.8314T>C
3g.9475693T>GCA351692719SETD5n.2886T>G
c.4027T>G (p.Leu1343Val)
n.4920T>G
n.2311T>G
n.6173T>G
c.3931T>G (p.Leu1311Val)
c.*4077T>G (n.*4077T>G)
c.*4000T>G (n.*4000T>G)
c.*4305T>G (n.*4305T>G)
c.*4036T>G (n.*4036T>G)
c.3637T>G (p.Leu1213Val)
c.2722+537T>G
c.3988T>G (p.Leu1330Val)
c.2967T>G
n.1062T>G
n.3272T>G
n.4095T>G
c.4105T>G (p.Leu1369Val)
c.4084T>G (p.Leu1362Val)
c.4066T>G (p.Leu1356Val)
c.4048T>G (p.Leu1350Val)
c.4009T>G (p.Leu1337Val)
c.3970T>G (p.Leu1324Val)
c.3694T>G (p.Leu1232Val)
c.3655T>G (p.Leu1219Val)
c.4045T>G (p.Leu1349Val)
c.3952T>G (p.Leu1318Val)
c.3427T>G (p.Leu1143Val)
c.3742T>G (p.Leu1248Val)
n.8314T>G
3g.9475694T>ACA351692722SETD5n.2887T>A
c.4028T>A (p.Leu1343Ter)
n.4921T>A
n.2312T>A
n.6174T>A
c.3932T>A (p.Leu1311Ter)
c.*4078T>A (n.*4078T>A)
c.*4001T>A (n.*4001T>A)
c.*4306T>A (n.*4306T>A)
c.*4037T>A (n.*4037T>A)
c.3638T>A (p.Leu1213Ter)
c.2722+538T>A
c.3989T>A (p.Leu1330Ter)
c.2968T>A
n.1063T>A
n.3273T>A
n.4096T>A
c.4106T>A (p.Leu1369Ter)
c.4085T>A (p.Leu1362Ter)
c.4067T>A (p.Leu1356Ter)
c.4049T>A (p.Leu1350Ter)
c.4010T>A (p.Leu1337Ter)
c.3971T>A (p.Leu1324Ter)
c.3695T>A (p.Leu1232Ter)
c.3656T>A (p.Leu1219Ter)
c.4046T>A (p.Leu1349Ter)
c.3953T>A (p.Leu1318Ter)
c.3428T>A (p.Leu1143Ter)
c.3743T>A (p.Leu1248Ter)
n.8315T>A
3g.9475694T>CCA351692723SETD5n.2887T>C
c.4028T>C (p.Leu1343Ser)
n.4921T>C
n.2312T>C
n.6174T>C
c.3932T>C (p.Leu1311Ser)
c.*4078T>C (n.*4078T>C)
c.*4001T>C (n.*4001T>C)
c.*4306T>C (n.*4306T>C)
c.*4037T>C (n.*4037T>C)
c.3638T>C (p.Leu1213Ser)
c.2722+538T>C
c.3989T>C (p.Leu1330Ser)
c.2968T>C
n.1063T>C
n.3273T>C
n.4096T>C
c.4106T>C (p.Leu1369Ser)
c.4085T>C (p.Leu1362Ser)
c.4067T>C (p.Leu1356Ser)
c.4049T>C (p.Leu1350Ser)
c.4010T>C (p.Leu1337Ser)
c.3971T>C (p.Leu1324Ser)
c.3695T>C (p.Leu1232Ser)
c.3656T>C (p.Leu1219Ser)
c.4046T>C (p.Leu1349Ser)
c.3953T>C (p.Leu1318Ser)
c.3428T>C (p.Leu1143Ser)
c.3743T>C (p.Leu1248Ser)
n.8315T>C
3g.9475694T>GCA351692727SETD5n.2887T>G
c.4028T>G (p.Leu1343Trp)
n.4921T>G
n.2312T>G
n.6174T>G
c.3932T>G (p.Leu1311Trp)
c.*4078T>G (n.*4078T>G)
c.*4001T>G (n.*4001T>G)
c.*4306T>G (n.*4306T>G)
c.*4037T>G (n.*4037T>G)
c.3638T>G (p.Leu1213Trp)
c.2722+538T>G
c.3989T>G (p.Leu1330Trp)
c.2968T>G
n.1063T>G
n.3273T>G
n.4096T>G
c.4106T>G (p.Leu1369Trp)
c.4085T>G (p.Leu1362Trp)
c.4067T>G (p.Leu1356Trp)
c.4049T>G (p.Leu1350Trp)
c.4010T>G (p.Leu1337Trp)
c.3971T>G (p.Leu1324Trp)
c.3695T>G (p.Leu1232Trp)
c.3656T>G (p.Leu1219Trp)
c.4046T>G (p.Leu1349Trp)
c.3953T>G (p.Leu1318Trp)
c.3428T>G (p.Leu1143Trp)
c.3743T>G (p.Leu1248Trp)
n.8315T>G
3g.9475695G>ACA432528917SETD5n.2888G>A
c.4029G>A (p.Leu1343=)
n.4922G>A
n.2313G>A
n.6175G>A
c.3933G>A (p.Leu1311=)
c.*4079G>A (n.*4079G>A)
c.*4002G>A (n.*4002G>A)
c.*4307G>A (n.*4307G>A)
c.*4038G>A (n.*4038G>A)
c.3639G>A (p.Leu1213=)
c.2722+539G>A
c.3990G>A (p.Leu1330=)
c.2969G>A
n.1064G>A
n.3274G>A
n.4097G>A
c.4107G>A (p.Leu1369=)
c.4086G>A (p.Leu1362=)
c.4068G>A (p.Leu1356=)
c.4050G>A (p.Leu1350=)
c.4011G>A (p.Leu1337=)
c.3972G>A (p.Leu1324=)
c.3696G>A (p.Leu1232=)
c.3657G>A (p.Leu1219=)
c.4047G>A (p.Leu1349=)
c.3954G>A (p.Leu1318=)
c.3429G>A (p.Leu1143=)
c.3744G>A (p.Leu1248=)
n.8316G>A
 gnomAD v4
3g.9475695G>CCA351692738SETD5n.2888G>C
c.4029G>C (p.Leu1343Phe)
n.4922G>C
n.2313G>C
n.6175G>C
c.3933G>C (p.Leu1311Phe)
c.*4079G>C (n.*4079G>C)
c.*4002G>C (n.*4002G>C)
c.*4307G>C (n.*4307G>C)
c.*4038G>C (n.*4038G>C)
c.3639G>C (p.Leu1213Phe)
c.2722+539G>C
c.3990G>C (p.Leu1330Phe)
c.2969G>C
n.1064G>C
n.3274G>C
n.4097G>C
c.4107G>C (p.Leu1369Phe)
c.4086G>C (p.Leu1362Phe)
c.4068G>C (p.Leu1356Phe)
c.4050G>C (p.Leu1350Phe)
c.4011G>C (p.Leu1337Phe)
c.3972G>C (p.Leu1324Phe)
c.3696G>C (p.Leu1232Phe)
c.3657G>C (p.Leu1219Phe)
c.4047G>C (p.Leu1349Phe)
c.3954G>C (p.Leu1318Phe)
c.3429G>C (p.Leu1143Phe)
c.3744G>C (p.Leu1248Phe)
n.8316G>C
 gnomAD v4
3g.9475695G>TCA351692753SETD5n.2888G>T
c.4029G>T (p.Leu1343Phe)
n.4922G>T
n.2313G>T
n.6175G>T
c.3933G>T (p.Leu1311Phe)
c.*4079G>T (n.*4079G>T)
c.*4002G>T (n.*4002G>T)
c.*4307G>T (n.*4307G>T)
c.*4038G>T (n.*4038G>T)
c.3639G>T (p.Leu1213Phe)
c.2722+539G>T
c.3990G>T (p.Leu1330Phe)
c.2969G>T
n.1064G>T
n.3274G>T
n.4097G>T
c.4107G>T (p.Leu1369Phe)
c.4086G>T (p.Leu1362Phe)
c.4068G>T (p.Leu1356Phe)
c.4050G>T (p.Leu1350Phe)
c.4011G>T (p.Leu1337Phe)
c.3972G>T (p.Leu1324Phe)
c.3696G>T (p.Leu1232Phe)
c.3657G>T (p.Leu1219Phe)
c.4047G>T (p.Leu1349Phe)
c.3954G>T (p.Leu1318Phe)
c.3429G>T (p.Leu1143Phe)
c.3744G>T (p.Leu1248Phe)
n.8316G>T
3g.9475696delCA2577498752SETD5n.2889del
c.4030del (p.Ala1344ProfsTer?)
n.4923del
n.2314del
n.6176del
c.3934del (p.Ala1312ProfsTer?)
c.*4080del (n.*4080del)
c.*4003del (n.*4003del)
c.*4308del (n.*4308del)
c.*4039del (n.*4039del)
c.3640del (p.Ala1214ProfsTer?)
c.2722+540del
c.3991del (p.Ala1331ProfsTer?)
c.2970del
n.1065del
n.3275del
n.4098del
c.4108del (p.Ala1370ProfsTer?)
c.4087del (p.Ala1363ProfsTer?)
c.4069del (p.Ala1357ProfsTer?)
c.4051del (p.Ala1351ProfsTer?)
c.4012del (p.Ala1338ProfsTer?)
c.3973del (p.Ala1325ProfsTer?)
c.3697del (p.Ala1233ProfsTer?)
c.3658del (p.Ala1220ProfsTer?)
c.4048del (p.Ala1350ProfsTer?)
c.3955del (p.Ala1319ProfsTer?)
c.3430del (p.Ala1144ProfsTer?)
c.3745del (p.Ala1249ProfsTer?)
n.8317del
3g.9475696G>ACA2239835SETD5n.2889G>A
c.4030G>A (p.Ala1344Thr)
n.4923G>A
n.2314G>A
n.6176G>A
c.3934G>A (p.Ala1312Thr)
c.*4080G>A (n.*4080G>A)
c.*4003G>A (n.*4003G>A)
c.*4308G>A (n.*4308G>A)
c.*4039G>A (n.*4039G>A)
c.3640G>A (p.Ala1214Thr)
c.2722+540G>A
c.3991G>A (p.Ala1331Thr)
c.2970G>A
n.1065G>A
n.3275G>A
n.4098G>A
c.4108G>A (p.Ala1370Thr)
c.4087G>A (p.Ala1363Thr)
c.4069G>A (p.Ala1357Thr)
c.4051G>A (p.Ala1351Thr)
c.4012G>A (p.Ala1338Thr)
c.3973G>A (p.Ala1325Thr)
c.3697G>A (p.Ala1233Thr)
c.3658G>A (p.Ala1220Thr)
c.4048G>A (p.Ala1350Thr)
c.3955G>A (p.Ala1319Thr)
c.3430G>A (p.Ala1144Thr)
c.3745G>A (p.Ala1249Thr)
n.8317G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475696G>CCA351692783SETD5n.2889G>C
c.4030G>C (p.Ala1344Pro)
n.4923G>C
n.2314G>C
n.6176G>C
c.3934G>C (p.Ala1312Pro)
c.*4080G>C (n.*4080G>C)
c.*4003G>C (n.*4003G>C)
c.*4308G>C (n.*4308G>C)
c.*4039G>C (n.*4039G>C)
c.3640G>C (p.Ala1214Pro)
c.2722+540G>C
c.3991G>C (p.Ala1331Pro)
c.2970G>C
n.1065G>C
n.3275G>C
n.4098G>C
c.4108G>C (p.Ala1370Pro)
c.4087G>C (p.Ala1363Pro)
c.4069G>C (p.Ala1357Pro)
c.4051G>C (p.Ala1351Pro)
c.4012G>C (p.Ala1338Pro)
c.3973G>C (p.Ala1325Pro)
c.3697G>C (p.Ala1233Pro)
c.3658G>C (p.Ala1220Pro)
c.4048G>C (p.Ala1350Pro)
c.3955G>C (p.Ala1319Pro)
c.3430G>C (p.Ala1144Pro)
c.3745G>C (p.Ala1249Pro)
n.8317G>C
3g.9475696G=CA1344742677SETD5n.2889G=
c.4030G= (p.Ala1344=)
n.4923G=
n.2314G=
n.6176G=
c.3934G= (p.Ala1312=)
c.*4080G= (n.*4080G=)
c.*4003G= (n.*4003G=)
c.*4308G= (n.*4308G=)
c.*4039G= (n.*4039G=)
c.3640G= (p.Ala1214=)
c.2722+540G=
c.3991G= (p.Ala1331=)
c.2970G=
n.1065G=
n.3275G=
n.4098G=
c.4108G= (p.Ala1370=)
c.4087G= (p.Ala1363=)
c.4069G= (p.Ala1357=)
c.4051G= (p.Ala1351=)
c.4012G= (p.Ala1338=)
c.3973G= (p.Ala1325=)
c.3697G= (p.Ala1233=)
c.3658G= (p.Ala1220=)
c.4048G= (p.Ala1350=)
c.3955G= (p.Ala1319=)
c.3430G= (p.Ala1144=)
c.3745G= (p.Ala1249=)
n.8317G=
3g.9475696G>TCA351692777SETD5n.2889G>T
c.4030G>T (p.Ala1344Ser)
n.4923G>T
n.2314G>T
n.6176G>T
c.3934G>T (p.Ala1312Ser)
c.*4080G>T (n.*4080G>T)
c.*4003G>T (n.*4003G>T)
c.*4308G>T (n.*4308G>T)
c.*4039G>T (n.*4039G>T)
c.3640G>T (p.Ala1214Ser)
c.2722+540G>T
c.3991G>T (p.Ala1331Ser)
c.2970G>T
n.1065G>T
n.3275G>T
n.4098G>T
c.4108G>T (p.Ala1370Ser)
c.4087G>T (p.Ala1363Ser)
c.4069G>T (p.Ala1357Ser)
c.4051G>T (p.Ala1351Ser)
c.4012G>T (p.Ala1338Ser)
c.3973G>T (p.Ala1325Ser)
c.3697G>T (p.Ala1233Ser)
c.3658G>T (p.Ala1220Ser)
c.4048G>T (p.Ala1350Ser)
c.3955G>T (p.Ala1319Ser)
c.3430G>T (p.Ala1144Ser)
c.3745G>T (p.Ala1249Ser)
n.8317G>T
3g.9475697C>ACA351692803SETD5n.2890C>A
c.4031C>A (p.Ala1344Asp)
n.4924C>A
n.2315C>A
n.6177C>A
c.3935C>A (p.Ala1312Asp)
c.*4081C>A (n.*4081C>A)
c.*4004C>A (n.*4004C>A)
c.*4309C>A (n.*4309C>A)
c.*4040C>A (n.*4040C>A)
c.3641C>A (p.Ala1214Asp)
c.2722+541C>A
c.3992C>A (p.Ala1331Asp)
c.2971C>A
n.1066C>A
n.3276C>A
n.4099C>A
c.4109C>A (p.Ala1370Asp)
c.4088C>A (p.Ala1363Asp)
c.4070C>A (p.Ala1357Asp)
c.4052C>A (p.Ala1351Asp)
c.4013C>A (p.Ala1338Asp)
c.3974C>A (p.Ala1325Asp)
c.3698C>A (p.Ala1233Asp)
c.3659C>A (p.Ala1220Asp)
c.4049C>A (p.Ala1350Asp)
c.3956C>A (p.Ala1319Asp)
c.3431C>A (p.Ala1144Asp)
c.3746C>A (p.Ala1249Asp)
n.8318C>A
3g.9475697C>GCA351692813SETD5n.2890C>G
c.4031C>G (p.Ala1344Gly)
n.4924C>G
n.2315C>G
n.6177C>G
c.3935C>G (p.Ala1312Gly)
c.*4081C>G (n.*4081C>G)
c.*4004C>G (n.*4004C>G)
c.*4309C>G (n.*4309C>G)
c.*4040C>G (n.*4040C>G)
c.3641C>G (p.Ala1214Gly)
c.2722+541C>G
c.3992C>G (p.Ala1331Gly)
c.2971C>G
n.1066C>G
n.3276C>G
n.4099C>G
c.4109C>G (p.Ala1370Gly)
c.4088C>G (p.Ala1363Gly)
c.4070C>G (p.Ala1357Gly)
c.4052C>G (p.Ala1351Gly)
c.4013C>G (p.Ala1338Gly)
c.3974C>G (p.Ala1325Gly)
c.3698C>G (p.Ala1233Gly)
c.3659C>G (p.Ala1220Gly)
c.4049C>G (p.Ala1350Gly)
c.3956C>G (p.Ala1319Gly)
c.3431C>G (p.Ala1144Gly)
c.3746C>G (p.Ala1249Gly)
n.8318C>G
3g.9475697C>TCA351692815SETD5n.2890C>T
c.4031C>T (p.Ala1344Val)
n.4924C>T
n.2315C>T
n.6177C>T
c.3935C>T (p.Ala1312Val)
c.*4081C>T (n.*4081C>T)
c.*4004C>T (n.*4004C>T)
c.*4309C>T (n.*4309C>T)
c.*4040C>T (n.*4040C>T)
c.3641C>T (p.Ala1214Val)
c.2722+541C>T
c.3992C>T (p.Ala1331Val)
c.2971C>T
n.1066C>T
n.3276C>T
n.4099C>T
c.4109C>T (p.Ala1370Val)
c.4088C>T (p.Ala1363Val)
c.4070C>T (p.Ala1357Val)
c.4052C>T (p.Ala1351Val)
c.4013C>T (p.Ala1338Val)
c.3974C>T (p.Ala1325Val)
c.3698C>T (p.Ala1233Val)
c.3659C>T (p.Ala1220Val)
c.4049C>T (p.Ala1350Val)
c.3956C>T (p.Ala1319Val)
c.3431C>T (p.Ala1144Val)
c.3746C>T (p.Ala1249Val)
n.8318C>T
3g.9475698C>ACA432528928SETD5n.2891C>A
c.4032C>A (p.Ala1344=)
n.4925C>A
n.2316C>A
n.6178C>A
c.3936C>A (p.Ala1312=)
c.*4082C>A (n.*4082C>A)
c.*4005C>A (n.*4005C>A)
c.*4310C>A (n.*4310C>A)
c.*4041C>A (n.*4041C>A)
c.3642C>A (p.Ala1214=)
c.2722+542C>A
c.3993C>A (p.Ala1331=)
c.2972C>A
n.1067C>A
n.3277C>A
n.4100C>A
c.4110C>A (p.Ala1370=)
c.4089C>A (p.Ala1363=)
c.4071C>A (p.Ala1357=)
c.4053C>A (p.Ala1351=)
c.4014C>A (p.Ala1338=)
c.3975C>A (p.Ala1325=)
c.3699C>A (p.Ala1233=)
c.3660C>A (p.Ala1220=)
c.4050C>A (p.Ala1350=)
c.3957C>A (p.Ala1319=)
c.3432C>A (p.Ala1144=)
c.3747C>A (p.Ala1249=)
n.8319C>A
 ClinVar dbSNP
3g.9475698C>GCA432528930SETD5n.2891C>G
c.4032C>G (p.Ala1344=)
n.4925C>G
n.2316C>G
n.6178C>G
c.3936C>G (p.Ala1312=)
c.*4082C>G (n.*4082C>G)
c.*4005C>G (n.*4005C>G)
c.*4310C>G (n.*4310C>G)
c.*4041C>G (n.*4041C>G)
c.3642C>G (p.Ala1214=)
c.2722+542C>G
c.3993C>G (p.Ala1331=)
c.2972C>G
n.1067C>G
n.3277C>G
n.4100C>G
c.4110C>G (p.Ala1370=)
c.4089C>G (p.Ala1363=)
c.4071C>G (p.Ala1357=)
c.4053C>G (p.Ala1351=)
c.4014C>G (p.Ala1338=)
c.3975C>G (p.Ala1325=)
c.3699C>G (p.Ala1233=)
c.3660C>G (p.Ala1220=)
c.4050C>G (p.Ala1350=)
c.3957C>G (p.Ala1319=)
c.3432C>G (p.Ala1144=)
c.3747C>G (p.Ala1249=)
n.8319C>G
3g.9475698C>TCA432528933SETD5n.2891C>T
c.4032C>T (p.Ala1344=)
n.4925C>T
n.2316C>T
n.6178C>T
c.3936C>T (p.Ala1312=)
c.*4082C>T (n.*4082C>T)
c.*4005C>T (n.*4005C>T)
c.*4310C>T (n.*4310C>T)
c.*4041C>T (n.*4041C>T)
c.3642C>T (p.Ala1214=)
c.2722+542C>T
c.3993C>T (p.Ala1331=)
c.2972C>T
n.1067C>T
n.3277C>T
n.4100C>T
c.4110C>T (p.Ala1370=)
c.4089C>T (p.Ala1363=)
c.4071C>T (p.Ala1357=)
c.4053C>T (p.Ala1351=)
c.4014C>T (p.Ala1338=)
c.3975C>T (p.Ala1325=)
c.3699C>T (p.Ala1233=)
c.3660C>T (p.Ala1220=)
c.4050C>T (p.Ala1350=)
c.3957C>T (p.Ala1319=)
c.3432C>T (p.Ala1144=)
c.3747C>T (p.Ala1249=)
n.8319C>T
3g.9475699C>ACA351692820SETD5n.2892C>A
c.4033C>A (p.Pro1345Thr)
n.4926C>A
n.2317C>A
n.6179C>A
c.3937C>A (p.Pro1313Thr)
c.*4083C>A (n.*4083C>A)
c.*4006C>A (n.*4006C>A)
c.*4311C>A (n.*4311C>A)
c.*4042C>A (n.*4042C>A)
c.3643C>A (p.Pro1215Thr)
c.2722+543C>A
c.3994C>A (p.Pro1332Thr)
c.2973C>A
n.1068C>A
n.3278C>A
n.4101C>A
c.4111C>A (p.Pro1371Thr)
c.4090C>A (p.Pro1364Thr)
c.4072C>A (p.Pro1358Thr)
c.4054C>A (p.Pro1352Thr)
c.4015C>A (p.Pro1339Thr)
c.3976C>A (p.Pro1326Thr)
c.3700C>A (p.Pro1234Thr)
c.3661C>A (p.Pro1221Thr)
c.4051C>A (p.Pro1351Thr)
c.3958C>A (p.Pro1320Thr)
c.3433C>A (p.Pro1145Thr)
c.3748C>A (p.Pro1250Thr)
n.8320C>A
 gnomAD v4
3g.9475699C>GCA351692825SETD5n.2892C>G
c.4033C>G (p.Pro1345Ala)
n.4926C>G
n.2317C>G
n.6179C>G
c.3937C>G (p.Pro1313Ala)
c.*4083C>G (n.*4083C>G)
c.*4006C>G (n.*4006C>G)
c.*4311C>G (n.*4311C>G)
c.*4042C>G (n.*4042C>G)
c.3643C>G (p.Pro1215Ala)
c.2722+543C>G
c.3994C>G (p.Pro1332Ala)
c.2973C>G
n.1068C>G
n.3278C>G
n.4101C>G
c.4111C>G (p.Pro1371Ala)
c.4090C>G (p.Pro1364Ala)
c.4072C>G (p.Pro1358Ala)
c.4054C>G (p.Pro1352Ala)
c.4015C>G (p.Pro1339Ala)
c.3976C>G (p.Pro1326Ala)
c.3700C>G (p.Pro1234Ala)
c.3661C>G (p.Pro1221Ala)
c.4051C>G (p.Pro1351Ala)
c.3958C>G (p.Pro1320Ala)
c.3433C>G (p.Pro1145Ala)
c.3748C>G (p.Pro1250Ala)
n.8320C>G
3g.9475699C>TCA351692829SETD5n.2892C>T
c.4033C>T (p.Pro1345Ser)
n.4926C>T
n.2317C>T
n.6179C>T
c.3937C>T (p.Pro1313Ser)
c.*4083C>T (n.*4083C>T)
c.*4006C>T (n.*4006C>T)
c.*4311C>T (n.*4311C>T)
c.*4042C>T (n.*4042C>T)
c.3643C>T (p.Pro1215Ser)
c.2722+543C>T
c.3994C>T (p.Pro1332Ser)
c.2973C>T
n.1068C>T
n.3278C>T
n.4101C>T
c.4111C>T (p.Pro1371Ser)
c.4090C>T (p.Pro1364Ser)
c.4072C>T (p.Pro1358Ser)
c.4054C>T (p.Pro1352Ser)
c.4015C>T (p.Pro1339Ser)
c.3976C>T (p.Pro1326Ser)
c.3700C>T (p.Pro1234Ser)
c.3661C>T (p.Pro1221Ser)
c.4051C>T (p.Pro1351Ser)
c.3958C>T (p.Pro1320Ser)
c.3433C>T (p.Pro1145Ser)
c.3748C>T (p.Pro1250Ser)
n.8320C>T
3g.9475700C>ACA351692837SETD5n.2893C>A
c.4034C>A (p.Pro1345Gln)
n.4927C>A
n.2318C>A
n.6180C>A
c.3938C>A (p.Pro1313Gln)
c.*4084C>A (n.*4084C>A)
c.*4007C>A (n.*4007C>A)
c.*4312C>A (n.*4312C>A)
c.*4043C>A (n.*4043C>A)
c.3644C>A (p.Pro1215Gln)
c.2722+544C>A
c.3995C>A (p.Pro1332Gln)
c.2974C>A
n.1069C>A
n.3279C>A
n.4102C>A
c.4112C>A (p.Pro1371Gln)
c.4091C>A (p.Pro1364Gln)
c.4073C>A (p.Pro1358Gln)
c.4055C>A (p.Pro1352Gln)
c.4016C>A (p.Pro1339Gln)
c.3977C>A (p.Pro1326Gln)
c.3701C>A (p.Pro1234Gln)
c.3662C>A (p.Pro1221Gln)
c.4052C>A (p.Pro1351Gln)
c.3959C>A (p.Pro1320Gln)
c.3434C>A (p.Pro1145Gln)
c.3749C>A (p.Pro1250Gln)
n.8321C>A
3g.9475700C=CA1344742680SETD5n.2893C=
c.4034C= (p.Pro1345=)
n.4927C=
n.2318C=
n.6180C=
c.3938C= (p.Pro1313=)
c.*4084C= (n.*4084C=)
c.*4007C= (n.*4007C=)
c.*4312C= (n.*4312C=)
c.*4043C= (n.*4043C=)
c.3644C= (p.Pro1215=)
c.2722+544C=
c.3995C= (p.Pro1332=)
c.2974C=
n.1069C=
n.3279C=
n.4102C=
c.4112C= (p.Pro1371=)
c.4091C= (p.Pro1364=)
c.4073C= (p.Pro1358=)
c.4055C= (p.Pro1352=)
c.4016C= (p.Pro1339=)
c.3977C= (p.Pro1326=)
c.3701C= (p.Pro1234=)
c.3662C= (p.Pro1221=)
c.4052C= (p.Pro1351=)
c.3959C= (p.Pro1320=)
c.3434C= (p.Pro1145=)
c.3749C= (p.Pro1250=)
n.8321C=
3g.9475700C>GCA351692848SETD5n.2893C>G
c.4034C>G (p.Pro1345Arg)
n.4927C>G
n.2318C>G
n.6180C>G
c.3938C>G (p.Pro1313Arg)
c.*4084C>G (n.*4084C>G)
c.*4007C>G (n.*4007C>G)
c.*4312C>G (n.*4312C>G)
c.*4043C>G (n.*4043C>G)
c.3644C>G (p.Pro1215Arg)
c.2722+544C>G
c.3995C>G (p.Pro1332Arg)
c.2974C>G
n.1069C>G
n.3279C>G
n.4102C>G
c.4112C>G (p.Pro1371Arg)
c.4091C>G (p.Pro1364Arg)
c.4073C>G (p.Pro1358Arg)
c.4055C>G (p.Pro1352Arg)
c.4016C>G (p.Pro1339Arg)
c.3977C>G (p.Pro1326Arg)
c.3701C>G (p.Pro1234Arg)
c.3662C>G (p.Pro1221Arg)
c.4052C>G (p.Pro1351Arg)
c.3959C>G (p.Pro1320Arg)
c.3434C>G (p.Pro1145Arg)
c.3749C>G (p.Pro1250Arg)
n.8321C>G
3g.9475700C>TCA69951975SETD5n.2893C>T
c.4034C>T (p.Pro1345Leu)
n.4927C>T
n.2318C>T
n.6180C>T
c.3938C>T (p.Pro1313Leu)
c.*4084C>T (n.*4084C>T)
c.*4007C>T (n.*4007C>T)
c.*4312C>T (n.*4312C>T)
c.*4043C>T (n.*4043C>T)
c.3644C>T (p.Pro1215Leu)
c.2722+544C>T
c.3995C>T (p.Pro1332Leu)
c.2974C>T
n.1069C>T
n.3279C>T
n.4102C>T
c.4112C>T (p.Pro1371Leu)
c.4091C>T (p.Pro1364Leu)
c.4073C>T (p.Pro1358Leu)
c.4055C>T (p.Pro1352Leu)
c.4016C>T (p.Pro1339Leu)
c.3977C>T (p.Pro1326Leu)
c.3701C>T (p.Pro1234Leu)
c.3662C>T (p.Pro1221Leu)
c.4052C>T (p.Pro1351Leu)
c.3959C>T (p.Pro1320Leu)
c.3434C>T (p.Pro1145Leu)
c.3749C>T (p.Pro1250Leu)
n.8321C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.9475701A>CCA432528944SETD5n.2894A>C
c.4035A>C (p.Pro1345=)
n.4928A>C
n.2319A>C
n.6181A>C
c.3939A>C (p.Pro1313=)
c.*4085A>C (n.*4085A>C)
c.*4008A>C (n.*4008A>C)
c.*4313A>C (n.*4313A>C)
c.*4044A>C (n.*4044A>C)
c.3645A>C (p.Pro1215=)
c.2722+545A>C
c.3996A>C (p.Pro1332=)
c.2975A>C
n.1070A>C
n.3280A>C
n.4103A>C
c.4113A>C (p.Pro1371=)
c.4092A>C (p.Pro1364=)
c.4074A>C (p.Pro1358=)
c.4056A>C (p.Pro1352=)
c.4017A>C (p.Pro1339=)
c.3978A>C (p.Pro1326=)
c.3702A>C (p.Pro1234=)
c.3663A>C (p.Pro1221=)
c.4053A>C (p.Pro1351=)
c.3960A>C (p.Pro1320=)
c.3435A>C (p.Pro1145=)
c.3750A>C (p.Pro1250=)
n.8322A>C
3g.9475701A>GCA432528943SETD5n.2894A>G
c.4035A>G (p.Pro1345=)
n.4928A>G
n.2319A>G
n.6181A>G
c.3939A>G (p.Pro1313=)
c.*4085A>G (n.*4085A>G)
c.*4008A>G (n.*4008A>G)
c.*4313A>G (n.*4313A>G)
c.*4044A>G (n.*4044A>G)
c.3645A>G (p.Pro1215=)
c.2722+545A>G
c.3996A>G (p.Pro1332=)
c.2975A>G
n.1070A>G
n.3280A>G
n.4103A>G
c.4113A>G (p.Pro1371=)
c.4092A>G (p.Pro1364=)
c.4074A>G (p.Pro1358=)
c.4056A>G (p.Pro1352=)
c.4017A>G (p.Pro1339=)
c.3978A>G (p.Pro1326=)
c.3702A>G (p.Pro1234=)
c.3663A>G (p.Pro1221=)
c.4053A>G (p.Pro1351=)
c.3960A>G (p.Pro1320=)
c.3435A>G (p.Pro1145=)
c.3750A>G (p.Pro1250=)
n.8322A>G
 ClinVar dbSNP gnomAD v4
3g.9475701A>TCA432528942SETD5n.2894A>T
c.4035A>T (p.Pro1345=)
n.4928A>T
n.2319A>T
n.6181A>T
c.3939A>T (p.Pro1313=)
c.*4085A>T (n.*4085A>T)
c.*4008A>T (n.*4008A>T)
c.*4313A>T (n.*4313A>T)
c.*4044A>T (n.*4044A>T)
c.3645A>T (p.Pro1215=)
c.2722+545A>T
c.3996A>T (p.Pro1332=)
c.2975A>T
n.1070A>T
n.3280A>T
n.4103A>T
c.4113A>T (p.Pro1371=)
c.4092A>T (p.Pro1364=)
c.4074A>T (p.Pro1358=)
c.4056A>T (p.Pro1352=)
c.4017A>T (p.Pro1339=)
c.3978A>T (p.Pro1326=)
c.3702A>T (p.Pro1234=)
c.3663A>T (p.Pro1221=)
c.4053A>T (p.Pro1351=)
c.3960A>T (p.Pro1320=)
c.3435A>T (p.Pro1145=)
c.3750A>T (p.Pro1250=)
n.8322A>T
 gnomAD v4
3g.9475702T>ACA2239836SETD5n.2895T>A
c.4036T>A (p.Phe1346Ile)
n.4929T>A
n.2320T>A
n.6182T>A
c.3940T>A (p.Phe1314Ile)
c.*4086T>A (n.*4086T>A)
c.*4009T>A (n.*4009T>A)
c.*4314T>A (n.*4314T>A)
c.*4045T>A (n.*4045T>A)
c.3646T>A (p.Phe1216Ile)
c.2722+546T>A
c.3997T>A (p.Phe1333Ile)
c.2976T>A
n.1071T>A
n.3281T>A
n.4104T>A
c.4114T>A (p.Phe1372Ile)
c.4093T>A (p.Phe1365Ile)
c.4075T>A (p.Phe1359Ile)
c.4057T>A (p.Phe1353Ile)
c.4018T>A (p.Phe1340Ile)
c.3979T>A (p.Phe1327Ile)
c.3703T>A (p.Phe1235Ile)
c.3664T>A (p.Phe1222Ile)
c.4054T>A (p.Phe1352Ile)
c.3961T>A (p.Phe1321Ile)
c.3436T>A (p.Phe1146Ile)
c.3751T>A (p.Phe1251Ile)
n.8323T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475702T>CCA351692869SETD5n.2895T>C
c.4036T>C (p.Phe1346Leu)
n.4929T>C
n.2320T>C
n.6182T>C
c.3940T>C (p.Phe1314Leu)
c.*4086T>C (n.*4086T>C)
c.*4009T>C (n.*4009T>C)
c.*4314T>C (n.*4314T>C)
c.*4045T>C (n.*4045T>C)
c.3646T>C (p.Phe1216Leu)
c.2722+546T>C
c.3997T>C (p.Phe1333Leu)
c.2976T>C
n.1071T>C
n.3281T>C
n.4104T>C
c.4114T>C (p.Phe1372Leu)
c.4093T>C (p.Phe1365Leu)
c.4075T>C (p.Phe1359Leu)
c.4057T>C (p.Phe1353Leu)
c.4018T>C (p.Phe1340Leu)
c.3979T>C (p.Phe1327Leu)
c.3703T>C (p.Phe1235Leu)
c.3664T>C (p.Phe1222Leu)
c.4054T>C (p.Phe1352Leu)
c.3961T>C (p.Phe1321Leu)
c.3436T>C (p.Phe1146Leu)
c.3751T>C (p.Phe1251Leu)
n.8323T>C
3g.9475702T>GCA351692871SETD5n.2895T>G
c.4036T>G (p.Phe1346Val)
n.4929T>G
n.2320T>G
n.6182T>G
c.3940T>G (p.Phe1314Val)
c.*4086T>G (n.*4086T>G)
c.*4009T>G (n.*4009T>G)
c.*4314T>G (n.*4314T>G)
c.*4045T>G (n.*4045T>G)
c.3646T>G (p.Phe1216Val)
c.2722+546T>G
c.3997T>G (p.Phe1333Val)
c.2976T>G
n.1071T>G
n.3281T>G
n.4104T>G
c.4114T>G (p.Phe1372Val)
c.4093T>G (p.Phe1365Val)
c.4075T>G (p.Phe1359Val)
c.4057T>G (p.Phe1353Val)
c.4018T>G (p.Phe1340Val)
c.3979T>G (p.Phe1327Val)
c.3703T>G (p.Phe1235Val)
c.3664T>G (p.Phe1222Val)
c.4054T>G (p.Phe1352Val)
c.3961T>G (p.Phe1321Val)
c.3436T>G (p.Phe1146Val)
c.3751T>G (p.Phe1251Val)
n.8323T>G
3g.9475702T=CA1344742685SETD5n.2895T=
c.4036T= (p.Phe1346=)
n.4929T=
n.2320T=
n.6182T=
c.3940T= (p.Phe1314=)
c.*4086T= (n.*4086T=)
c.*4009T= (n.*4009T=)
c.*4314T= (n.*4314T=)
c.*4045T= (n.*4045T=)
c.3646T= (p.Phe1216=)
c.2722+546T=
c.3997T= (p.Phe1333=)
c.2976T=
n.1071T=
n.3281T=
n.4104T=
c.4114T= (p.Phe1372=)
c.4093T= (p.Phe1365=)
c.4075T= (p.Phe1359=)
c.4057T= (p.Phe1353=)
c.4018T= (p.Phe1340=)
c.3979T= (p.Phe1327=)
c.3703T= (p.Phe1235=)
c.3664T= (p.Phe1222=)
c.4054T= (p.Phe1352=)
c.3961T= (p.Phe1321=)
c.3436T= (p.Phe1146=)
c.3751T= (p.Phe1251=)
n.8323T=
3g.9475703T>ACA351692889SETD5n.2896T>A
c.4037T>A (p.Phe1346Tyr)
n.4930T>A
n.2321T>A
n.6183T>A
c.3941T>A (p.Phe1314Tyr)
c.*4087T>A (n.*4087T>A)
c.*4010T>A (n.*4010T>A)
c.*4315T>A (n.*4315T>A)
c.*4046T>A (n.*4046T>A)
c.3647T>A (p.Phe1216Tyr)
c.2722+547T>A
c.3998T>A (p.Phe1333Tyr)
c.2977T>A
n.1072T>A
n.3282T>A
n.4105T>A
c.4115T>A (p.Phe1372Tyr)
c.4094T>A (p.Phe1365Tyr)
c.4076T>A (p.Phe1359Tyr)
c.4058T>A (p.Phe1353Tyr)
c.4019T>A (p.Phe1340Tyr)
c.3980T>A (p.Phe1327Tyr)
c.3704T>A (p.Phe1235Tyr)
c.3665T>A (p.Phe1222Tyr)
c.4055T>A (p.Phe1352Tyr)
c.3962T>A (p.Phe1321Tyr)
c.3437T>A (p.Phe1146Tyr)
c.3752T>A (p.Phe1251Tyr)
n.8324T>A
3g.9475703T>CCA2239837SETD5n.2896T>C
c.4037T>C (p.Phe1346Ser)
n.4930T>C
n.2321T>C
n.6183T>C
c.3941T>C (p.Phe1314Ser)
c.*4087T>C (n.*4087T>C)
c.*4010T>C (n.*4010T>C)
c.*4315T>C (n.*4315T>C)
c.*4046T>C (n.*4046T>C)
c.3647T>C (p.Phe1216Ser)
c.2722+547T>C
c.3998T>C (p.Phe1333Ser)
c.2977T>C
n.1072T>C
n.3282T>C
n.4105T>C
c.4115T>C (p.Phe1372Ser)
c.4094T>C (p.Phe1365Ser)
c.4076T>C (p.Phe1359Ser)
c.4058T>C (p.Phe1353Ser)
c.4019T>C (p.Phe1340Ser)
c.3980T>C (p.Phe1327Ser)
c.3704T>C (p.Phe1235Ser)
c.3665T>C (p.Phe1222Ser)
c.4055T>C (p.Phe1352Ser)
c.3962T>C (p.Phe1321Ser)
c.3437T>C (p.Phe1146Ser)
c.3752T>C (p.Phe1251Ser)
n.8324T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475703T>GCA351692879SETD5n.2896T>G
c.4037T>G (p.Phe1346Cys)
n.4930T>G
n.2321T>G
n.6183T>G
c.3941T>G (p.Phe1314Cys)
c.*4087T>G (n.*4087T>G)
c.*4010T>G (n.*4010T>G)
c.*4315T>G (n.*4315T>G)
c.*4046T>G (n.*4046T>G)
c.3647T>G (p.Phe1216Cys)
c.2722+547T>G
c.3998T>G (p.Phe1333Cys)
c.2977T>G
n.1072T>G
n.3282T>G
n.4105T>G
c.4115T>G (p.Phe1372Cys)
c.4094T>G (p.Phe1365Cys)
c.4076T>G (p.Phe1359Cys)
c.4058T>G (p.Phe1353Cys)
c.4019T>G (p.Phe1340Cys)
c.3980T>G (p.Phe1327Cys)
c.3704T>G (p.Phe1235Cys)
c.3665T>G (p.Phe1222Cys)
c.4055T>G (p.Phe1352Cys)
c.3962T>G (p.Phe1321Cys)
c.3437T>G (p.Phe1146Cys)
c.3752T>G (p.Phe1251Cys)
n.8324T>G
3g.9475703T=CA1344742690SETD5n.2896T=
c.4037T= (p.Phe1346=)
n.4930T=
n.2321T=
n.6183T=
c.3941T= (p.Phe1314=)
c.*4087T= (n.*4087T=)
c.*4010T= (n.*4010T=)
c.*4315T= (n.*4315T=)
c.*4046T= (n.*4046T=)
c.3647T= (p.Phe1216=)
c.2722+547T=
c.3998T= (p.Phe1333=)
c.2977T=
n.1072T=
n.3282T=
n.4105T=
c.4115T= (p.Phe1372=)
c.4094T= (p.Phe1365=)
c.4076T= (p.Phe1359=)
c.4058T= (p.Phe1353=)
c.4019T= (p.Phe1340=)
c.3980T= (p.Phe1327=)
c.3704T= (p.Phe1235=)
c.3665T= (p.Phe1222=)
c.4055T= (p.Phe1352=)
c.3962T= (p.Phe1321=)
c.3437T= (p.Phe1146=)
c.3752T= (p.Phe1251=)
n.8324T=
3g.9475704T>ACA351692891SETD5n.2897T>A
c.4038T>A (p.Phe1346Leu)
n.4931T>A
n.2322T>A
n.6184T>A
c.3942T>A (p.Phe1314Leu)
c.*4088T>A (n.*4088T>A)
c.*4011T>A (n.*4011T>A)
c.*4316T>A (n.*4316T>A)
c.*4047T>A (n.*4047T>A)
c.3648T>A (p.Phe1216Leu)
c.2722+548T>A
c.3999T>A (p.Phe1333Leu)
c.2978T>A
n.1073T>A
n.3283T>A
n.4106T>A
c.4116T>A (p.Phe1372Leu)
c.4095T>A (p.Phe1365Leu)
c.4077T>A (p.Phe1359Leu)
c.4059T>A (p.Phe1353Leu)
c.4020T>A (p.Phe1340Leu)
c.3981T>A (p.Phe1327Leu)
c.3705T>A (p.Phe1235Leu)
c.3666T>A (p.Phe1222Leu)
c.4056T>A (p.Phe1352Leu)
c.3963T>A (p.Phe1321Leu)
c.3438T>A (p.Phe1146Leu)
c.3753T>A (p.Phe1251Leu)
n.8325T>A
3g.9475704T>CCA432528948SETD5n.2897T>C
c.4038T>C (p.Phe1346=)
n.4931T>C
n.2322T>C
n.6184T>C
c.3942T>C (p.Phe1314=)
c.*4088T>C (n.*4088T>C)
c.*4011T>C (n.*4011T>C)
c.*4316T>C (n.*4316T>C)
c.*4047T>C (n.*4047T>C)
c.3648T>C (p.Phe1216=)
c.2722+548T>C
c.3999T>C (p.Phe1333=)
c.2978T>C
n.1073T>C
n.3283T>C
n.4106T>C
c.4116T>C (p.Phe1372=)
c.4095T>C (p.Phe1365=)
c.4077T>C (p.Phe1359=)
c.4059T>C (p.Phe1353=)
c.4020T>C (p.Phe1340=)
c.3981T>C (p.Phe1327=)
c.3705T>C (p.Phe1235=)
c.3666T>C (p.Phe1222=)
c.4056T>C (p.Phe1352=)
c.3963T>C (p.Phe1321=)
c.3438T>C (p.Phe1146=)
c.3753T>C (p.Phe1251=)
n.8325T>C
3g.9475704T>GCA351692892SETD5n.2897T>G
c.4038T>G (p.Phe1346Leu)
n.4931T>G
n.2322T>G
n.6184T>G
c.3942T>G (p.Phe1314Leu)
c.*4088T>G (n.*4088T>G)
c.*4011T>G (n.*4011T>G)
c.*4316T>G (n.*4316T>G)
c.*4047T>G (n.*4047T>G)
c.3648T>G (p.Phe1216Leu)
c.2722+548T>G
c.3999T>G (p.Phe1333Leu)
c.2978T>G
n.1073T>G
n.3283T>G
n.4106T>G
c.4116T>G (p.Phe1372Leu)
c.4095T>G (p.Phe1365Leu)
c.4077T>G (p.Phe1359Leu)
c.4059T>G (p.Phe1353Leu)
c.4020T>G (p.Phe1340Leu)
c.3981T>G (p.Phe1327Leu)
c.3705T>G (p.Phe1235Leu)
c.3666T>G (p.Phe1222Leu)
c.4056T>G (p.Phe1352Leu)
c.3963T>G (p.Phe1321Leu)
c.3438T>G (p.Phe1146Leu)
c.3753T>G (p.Phe1251Leu)
n.8325T>G
3g.9475705A>CCA351692895SETD5n.2898A>C
c.4039A>C (p.Thr1347Pro)
n.4932A>C
n.2323A>C
n.6185A>C
c.3943A>C (p.Thr1315Pro)
c.*4089A>C (n.*4089A>C)
c.*4012A>C (n.*4012A>C)
c.*4317A>C (n.*4317A>C)
c.*4048A>C (n.*4048A>C)
c.3649A>C (p.Thr1217Pro)
c.2722+549A>C
c.4000A>C (p.Thr1334Pro)
c.2979A>C
n.1074A>C
n.3284A>C
n.4107A>C
c.4117A>C (p.Thr1373Pro)
c.4096A>C (p.Thr1366Pro)
c.4078A>C (p.Thr1360Pro)
c.4060A>C (p.Thr1354Pro)
c.4021A>C (p.Thr1341Pro)
c.3982A>C (p.Thr1328Pro)
c.3706A>C (p.Thr1236Pro)
c.3667A>C (p.Thr1223Pro)
c.4057A>C (p.Thr1353Pro)
c.3964A>C (p.Thr1322Pro)
c.3439A>C (p.Thr1147Pro)
c.3754A>C (p.Thr1252Pro)
n.8326A>C
3g.9475705A>GCA351692897SETD5n.2898A>G
c.4039A>G (p.Thr1347Ala)
n.4932A>G
n.2323A>G
n.6185A>G
c.3943A>G (p.Thr1315Ala)
c.*4089A>G (n.*4089A>G)
c.*4012A>G (n.*4012A>G)
c.*4317A>G (n.*4317A>G)
c.*4048A>G (n.*4048A>G)
c.3649A>G (p.Thr1217Ala)
c.2722+549A>G
c.4000A>G (p.Thr1334Ala)
c.2979A>G
n.1074A>G
n.3284A>G
n.4107A>G
c.4117A>G (p.Thr1373Ala)
c.4096A>G (p.Thr1366Ala)
c.4078A>G (p.Thr1360Ala)
c.4060A>G (p.Thr1354Ala)
c.4021A>G (p.Thr1341Ala)
c.3982A>G (p.Thr1328Ala)
c.3706A>G (p.Thr1236Ala)
c.3667A>G (p.Thr1223Ala)
c.4057A>G (p.Thr1353Ala)
c.3964A>G (p.Thr1322Ala)
c.3439A>G (p.Thr1147Ala)
c.3754A>G (p.Thr1252Ala)
n.8326A>G
3g.9475705A>TCA351692900SETD5n.2898A>T
c.4039A>T (p.Thr1347Ser)
n.4932A>T
n.2323A>T
n.6185A>T
c.3943A>T (p.Thr1315Ser)
c.*4089A>T (n.*4089A>T)
c.*4012A>T (n.*4012A>T)
c.*4317A>T (n.*4317A>T)
c.*4048A>T (n.*4048A>T)
c.3649A>T (p.Thr1217Ser)
c.2722+549A>T
c.4000A>T (p.Thr1334Ser)
c.2979A>T
n.1074A>T
n.3284A>T
n.4107A>T
c.4117A>T (p.Thr1373Ser)
c.4096A>T (p.Thr1366Ser)
c.4078A>T (p.Thr1360Ser)
c.4060A>T (p.Thr1354Ser)
c.4021A>T (p.Thr1341Ser)
c.3982A>T (p.Thr1328Ser)
c.3706A>T (p.Thr1236Ser)
c.3667A>T (p.Thr1223Ser)
c.4057A>T (p.Thr1353Ser)
c.3964A>T (p.Thr1322Ser)
c.3439A>T (p.Thr1147Ser)
c.3754A>T (p.Thr1252Ser)
n.8326A>T
3g.9475706C>ACA351692903SETD5n.2899C>A
c.4040C>A (p.Thr1347Lys)
n.4933C>A
n.2324C>A
n.6186C>A
c.3944C>A (p.Thr1315Lys)
c.*4090C>A (n.*4090C>A)
c.*4013C>A (n.*4013C>A)
c.*4318C>A (n.*4318C>A)
c.*4049C>A (n.*4049C>A)
c.3650C>A (p.Thr1217Lys)
c.2722+550C>A
c.4001C>A (p.Thr1334Lys)
c.2980C>A
n.3285C>A
n.4108C>A
c.4118C>A (p.Thr1373Lys)
c.4097C>A (p.Thr1366Lys)
c.4079C>A (p.Thr1360Lys)
c.4061C>A (p.Thr1354Lys)
c.4022C>A (p.Thr1341Lys)
c.3983C>A (p.Thr1328Lys)
c.3707C>A (p.Thr1236Lys)
c.3668C>A (p.Thr1223Lys)
c.4058C>A (p.Thr1353Lys)
c.3965C>A (p.Thr1322Lys)
c.3440C>A (p.Thr1147Lys)
c.3755C>A (p.Thr1252Lys)
n.8327C>A
3g.9475706C=CA1344742696SETD5n.2899C=
c.4040C= (p.Thr1347=)
n.4933C=
n.2324C=
n.6186C=
c.3944C= (p.Thr1315=)
c.*4090C= (n.*4090C=)
c.*4013C= (n.*4013C=)
c.*4318C= (n.*4318C=)
c.*4049C= (n.*4049C=)
c.3650C= (p.Thr1217=)
c.2722+550C=
c.4001C= (p.Thr1334=)
c.2980C=
n.3285C=
n.4108C=
c.4118C= (p.Thr1373=)
c.4097C= (p.Thr1366=)
c.4079C= (p.Thr1360=)
c.4061C= (p.Thr1354=)
c.4022C= (p.Thr1341=)
c.3983C= (p.Thr1328=)
c.3707C= (p.Thr1236=)
c.3668C= (p.Thr1223=)
c.4058C= (p.Thr1353=)
c.3965C= (p.Thr1322=)
c.3440C= (p.Thr1147=)
c.3755C= (p.Thr1252=)
n.8327C=
3g.9475706C>GCA351692907SETD5n.2899C>G
c.4040C>G (p.Thr1347Arg)
n.4933C>G
n.2324C>G
n.6186C>G
c.3944C>G (p.Thr1315Arg)
c.*4090C>G (n.*4090C>G)
c.*4013C>G (n.*4013C>G)
c.*4318C>G (n.*4318C>G)
c.*4049C>G (n.*4049C>G)
c.3650C>G (p.Thr1217Arg)
c.2722+550C>G
c.4001C>G (p.Thr1334Arg)
c.2980C>G
n.3285C>G
n.4108C>G
c.4118C>G (p.Thr1373Arg)
c.4097C>G (p.Thr1366Arg)
c.4079C>G (p.Thr1360Arg)
c.4061C>G (p.Thr1354Arg)
c.4022C>G (p.Thr1341Arg)
c.3983C>G (p.Thr1328Arg)
c.3707C>G (p.Thr1236Arg)
c.3668C>G (p.Thr1223Arg)
c.4058C>G (p.Thr1353Arg)
c.3965C>G (p.Thr1322Arg)
c.3440C>G (p.Thr1147Arg)
c.3755C>G (p.Thr1252Arg)
n.8327C>G
3g.9475706C>TCA2239838SETD5n.2899C>T
c.4040C>T (p.Thr1347Met)
n.4933C>T
n.2324C>T
n.6186C>T
c.3944C>T (p.Thr1315Met)
c.*4090C>T (n.*4090C>T)
c.*4013C>T (n.*4013C>T)
c.*4318C>T (n.*4318C>T)
c.*4049C>T (n.*4049C>T)
c.3650C>T (p.Thr1217Met)
c.2722+550C>T
c.4001C>T (p.Thr1334Met)
c.2980C>T
n.3285C>T
n.4108C>T
c.4118C>T (p.Thr1373Met)
c.4097C>T (p.Thr1366Met)
c.4079C>T (p.Thr1360Met)
c.4061C>T (p.Thr1354Met)
c.4022C>T (p.Thr1341Met)
c.3983C>T (p.Thr1328Met)
c.3707C>T (p.Thr1236Met)
c.3668C>T (p.Thr1223Met)
c.4058C>T (p.Thr1353Met)
c.3965C>T (p.Thr1322Met)
c.3440C>T (p.Thr1147Met)
c.3755C>T (p.Thr1252Met)
n.8327C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475707G>ACA2239839SETD5n.2900G>A
c.4041G>A (p.Thr1347=)
n.4934G>A
n.2325G>A
n.6187G>A
c.3945G>A (p.Thr1315=)
c.*4091G>A (n.*4091G>A)
c.*4014G>A (n.*4014G>A)
c.*4319G>A (n.*4319G>A)
c.*4050G>A (n.*4050G>A)
c.3651G>A (p.Thr1217=)
c.2722+551G>A
c.4002G>A (p.Thr1334=)
c.2981G>A
n.3286G>A
n.4109G>A
c.4119G>A (p.Thr1373=)
c.4098G>A (p.Thr1366=)
c.4080G>A (p.Thr1360=)
c.4062G>A (p.Thr1354=)
c.4023G>A (p.Thr1341=)
c.3984G>A (p.Thr1328=)
c.3708G>A (p.Thr1236=)
c.3669G>A (p.Thr1223=)
c.4059G>A (p.Thr1353=)
c.3966G>A (p.Thr1322=)
c.3441G>A (p.Thr1147=)
c.3756G>A (p.Thr1252=)
n.8328G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475707G>CCA432528953SETD5n.2900G>C
c.4041G>C (p.Thr1347=)
n.4934G>C
n.2325G>C
n.6187G>C
c.3945G>C (p.Thr1315=)
c.*4091G>C (n.*4091G>C)
c.*4014G>C (n.*4014G>C)
c.*4319G>C (n.*4319G>C)
c.*4050G>C (n.*4050G>C)
c.3651G>C (p.Thr1217=)
c.2722+551G>C
c.4002G>C (p.Thr1334=)
c.2981G>C
n.3286G>C
n.4109G>C
c.4119G>C (p.Thr1373=)
c.4098G>C (p.Thr1366=)
c.4080G>C (p.Thr1360=)
c.4062G>C (p.Thr1354=)
c.4023G>C (p.Thr1341=)
c.3984G>C (p.Thr1328=)
c.3708G>C (p.Thr1236=)
c.3669G>C (p.Thr1223=)
c.4059G>C (p.Thr1353=)
c.3966G>C (p.Thr1322=)
c.3441G>C (p.Thr1147=)
c.3756G>C (p.Thr1252=)
n.8328G>C
3g.9475707G=CA1344742703SETD5n.2900G=
c.4041G= (p.Thr1347=)
n.4934G=
n.2325G=
n.6187G=
c.3945G= (p.Thr1315=)
c.*4091G= (n.*4091G=)
c.*4014G= (n.*4014G=)
c.*4319G= (n.*4319G=)
c.*4050G= (n.*4050G=)
c.3651G= (p.Thr1217=)
c.2722+551G=
c.4002G= (p.Thr1334=)
c.2981G=
n.3286G=
n.4109G=
c.4119G= (p.Thr1373=)
c.4098G= (p.Thr1366=)
c.4080G= (p.Thr1360=)
c.4062G= (p.Thr1354=)
c.4023G= (p.Thr1341=)
c.3984G= (p.Thr1328=)
c.3708G= (p.Thr1236=)
c.3669G= (p.Thr1223=)
c.4059G= (p.Thr1353=)
c.3966G= (p.Thr1322=)
c.3441G= (p.Thr1147=)
c.3756G= (p.Thr1252=)
n.8328G=
3g.9475707G>TCA432528952SETD5n.2900G>T
c.4041G>T (p.Thr1347=)
n.4934G>T
n.2325G>T
n.6187G>T
c.3945G>T (p.Thr1315=)
c.*4091G>T (n.*4091G>T)
c.*4014G>T (n.*4014G>T)
c.*4319G>T (n.*4319G>T)
c.*4050G>T (n.*4050G>T)
c.3651G>T (p.Thr1217=)
c.2722+551G>T
c.4002G>T (p.Thr1334=)
c.2981G>T
n.3286G>T
n.4109G>T
c.4119G>T (p.Thr1373=)
c.4098G>T (p.Thr1366=)
c.4080G>T (p.Thr1360=)
c.4062G>T (p.Thr1354=)
c.4023G>T (p.Thr1341=)
c.3984G>T (p.Thr1328=)
c.3708G>T (p.Thr1236=)
c.3669G>T (p.Thr1223=)
c.4059G>T (p.Thr1353=)
c.3966G>T (p.Thr1322=)
c.3441G>T (p.Thr1147=)
c.3756G>T (p.Thr1252=)
n.8328G>T
3g.9475710delCA645526498SETD5n.2903del
c.4044del (p.Thr1349HisfsTer?)
n.4937del
n.2328del
n.6190del
c.3948del (p.Thr1317HisfsTer?)
c.*4094del (n.*4094del)
c.*4017del (n.*4017del)
c.*4322del (n.*4322del)
c.*4053del (n.*4053del)
c.3654del (p.Thr1219HisfsTer?)
c.2722+554del
c.4005del (p.Thr1336HisfsTer?)
c.2984del
n.3289del
n.4112del
c.4122del (p.Thr1375HisfsTer?)
c.4101del (p.Thr1368HisfsTer?)
c.4083del (p.Thr1362HisfsTer?)
c.4065del (p.Thr1356HisfsTer?)
c.4026del (p.Thr1343HisfsTer?)
c.3987del (p.Thr1330HisfsTer?)
c.3711del (p.Thr1238HisfsTer?)
c.3672del (p.Thr1225HisfsTer?)
c.4062del (p.Thr1355HisfsTer?)
c.3969del (p.Thr1324HisfsTer?)
c.3444del (p.Thr1149HisfsTer?)
c.3759del (p.Thr1254HisfsTer?)
n.8331del
 COSMIC COSMIC
3g.9475708G>ACA351692930SETD5n.2901G>A
c.4042G>A (p.Gly1348Arg)
n.4935G>A
n.2326G>A
n.6188G>A
c.3946G>A (p.Gly1316Arg)
c.*4092G>A (n.*4092G>A)
c.*4015G>A (n.*4015G>A)
c.*4320G>A (n.*4320G>A)
c.*4051G>A (n.*4051G>A)
c.3652G>A (p.Gly1218Arg)
c.2722+552G>A
c.4003G>A (p.Gly1335Arg)
c.2982G>A
n.3287G>A
n.4110G>A
c.4120G>A (p.Gly1374Arg)
c.4099G>A (p.Gly1367Arg)
c.4081G>A (p.Gly1361Arg)
c.4063G>A (p.Gly1355Arg)
c.4024G>A (p.Gly1342Arg)
c.3985G>A (p.Gly1329Arg)
c.3709G>A (p.Gly1237Arg)
c.3670G>A (p.Gly1224Arg)
c.4060G>A (p.Gly1354Arg)
c.3967G>A (p.Gly1323Arg)
c.3442G>A (p.Gly1148Arg)
c.3757G>A (p.Gly1253Arg)
n.8329G>A
 dbSNP gnomAD v2
3g.9475708G>CCA351692933SETD5n.2901G>C
c.4042G>C (p.Gly1348Arg)
n.4935G>C
n.2326G>C
n.6188G>C
c.3946G>C (p.Gly1316Arg)
c.*4092G>C (n.*4092G>C)
c.*4015G>C (n.*4015G>C)
c.*4320G>C (n.*4320G>C)
c.*4051G>C (n.*4051G>C)
c.3652G>C (p.Gly1218Arg)
c.2722+552G>C
c.4003G>C (p.Gly1335Arg)
c.2982G>C
n.3287G>C
n.4110G>C
c.4120G>C (p.Gly1374Arg)
c.4099G>C (p.Gly1367Arg)
c.4081G>C (p.Gly1361Arg)
c.4063G>C (p.Gly1355Arg)
c.4024G>C (p.Gly1342Arg)
c.3985G>C (p.Gly1329Arg)
c.3709G>C (p.Gly1237Arg)
c.3670G>C (p.Gly1224Arg)
c.4060G>C (p.Gly1354Arg)
c.3967G>C (p.Gly1323Arg)
c.3442G>C (p.Gly1148Arg)
c.3757G>C (p.Gly1253Arg)
n.8329G>C
3g.9475708G=CA1344742707SETD5n.2901G=
c.4042G= (p.Gly1348=)
n.4935G=
n.2326G=
n.6188G=
c.3946G= (p.Gly1316=)
c.*4092G= (n.*4092G=)
c.*4015G= (n.*4015G=)
c.*4320G= (n.*4320G=)
c.*4051G= (n.*4051G=)
c.3652G= (p.Gly1218=)
c.2722+552G=
c.4003G= (p.Gly1335=)
c.2982G=
n.3287G=
n.4110G=
c.4120G= (p.Gly1374=)
c.4099G= (p.Gly1367=)
c.4081G= (p.Gly1361=)
c.4063G= (p.Gly1355=)
c.4024G= (p.Gly1342=)
c.3985G= (p.Gly1329=)
c.3709G= (p.Gly1237=)
c.3670G= (p.Gly1224=)
c.4060G= (p.Gly1354=)
c.3967G= (p.Gly1323=)
c.3442G= (p.Gly1148=)
c.3757G= (p.Gly1253=)
n.8329G=
3g.9475708G>TCA351692934SETD5n.2901G>T
c.4042G>T (p.Gly1348Trp)
n.4935G>T
n.2326G>T
n.6188G>T
c.3946G>T (p.Gly1316Trp)
c.*4092G>T (n.*4092G>T)
c.*4015G>T (n.*4015G>T)
c.*4320G>T (n.*4320G>T)
c.*4051G>T (n.*4051G>T)
c.3652G>T (p.Gly1218Trp)
c.2722+552G>T
c.4003G>T (p.Gly1335Trp)
c.2982G>T
n.3287G>T
n.4110G>T
c.4120G>T (p.Gly1374Trp)
c.4099G>T (p.Gly1367Trp)
c.4081G>T (p.Gly1361Trp)
c.4063G>T (p.Gly1355Trp)
c.4024G>T (p.Gly1342Trp)
c.3985G>T (p.Gly1329Trp)
c.3709G>T (p.Gly1237Trp)
c.3670G>T (p.Gly1224Trp)
c.4060G>T (p.Gly1354Trp)
c.3967G>T (p.Gly1323Trp)
c.3442G>T (p.Gly1148Trp)
c.3757G>T (p.Gly1253Trp)
n.8329G>T
3g.9475709G>ACA351692945SETD5n.2902G>A
c.4043G>A (p.Gly1348Glu)
n.4936G>A
n.2327G>A
n.6189G>A
c.3947G>A (p.Gly1316Glu)
c.*4093G>A (n.*4093G>A)
c.*4016G>A (n.*4016G>A)
c.*4321G>A (n.*4321G>A)
c.*4052G>A (n.*4052G>A)
c.3653G>A (p.Gly1218Glu)
c.2722+553G>A
c.4004G>A (p.Gly1335Glu)
c.2983G>A
n.3288G>A
n.4111G>A
c.4121G>A (p.Gly1374Glu)
c.4100G>A (p.Gly1367Glu)
c.4082G>A (p.Gly1361Glu)
c.4064G>A (p.Gly1355Glu)
c.4025G>A (p.Gly1342Glu)
c.3986G>A (p.Gly1329Glu)
c.3710G>A (p.Gly1237Glu)
c.3671G>A (p.Gly1224Glu)
c.4061G>A (p.Gly1354Glu)
c.3968G>A (p.Gly1323Glu)
c.3443G>A (p.Gly1148Glu)
c.3758G>A (p.Gly1253Glu)
n.8330G>A
3g.9475709G>CCA351692939SETD5n.2902G>C
c.4043G>C (p.Gly1348Ala)
n.4936G>C
n.2327G>C
n.6189G>C
c.3947G>C (p.Gly1316Ala)
c.*4093G>C (n.*4093G>C)
c.*4016G>C (n.*4016G>C)
c.*4321G>C (n.*4321G>C)
c.*4052G>C (n.*4052G>C)
c.3653G>C (p.Gly1218Ala)
c.2722+553G>C
c.4004G>C (p.Gly1335Ala)
c.2983G>C
n.3288G>C
n.4111G>C
c.4121G>C (p.Gly1374Ala)
c.4100G>C (p.Gly1367Ala)
c.4082G>C (p.Gly1361Ala)
c.4064G>C (p.Gly1355Ala)
c.4025G>C (p.Gly1342Ala)
c.3986G>C (p.Gly1329Ala)
c.3710G>C (p.Gly1237Ala)
c.3671G>C (p.Gly1224Ala)
c.4061G>C (p.Gly1354Ala)
c.3968G>C (p.Gly1323Ala)
c.3443G>C (p.Gly1148Ala)
c.3758G>C (p.Gly1253Ala)
n.8330G>C
3g.9475709G>TCA351692936SETD5n.2902G>T
c.4043G>T (p.Gly1348Val)
n.4936G>T
n.2327G>T
n.6189G>T
c.3947G>T (p.Gly1316Val)
c.*4093G>T (n.*4093G>T)
c.*4016G>T (n.*4016G>T)
c.*4321G>T (n.*4321G>T)
c.*4052G>T (n.*4052G>T)
c.3653G>T (p.Gly1218Val)
c.2722+553G>T
c.4004G>T (p.Gly1335Val)
c.2983G>T
n.3288G>T
n.4111G>T
c.4121G>T (p.Gly1374Val)
c.4100G>T (p.Gly1367Val)
c.4082G>T (p.Gly1361Val)
c.4064G>T (p.Gly1355Val)
c.4025G>T (p.Gly1342Val)
c.3986G>T (p.Gly1329Val)
c.3710G>T (p.Gly1237Val)
c.3671G>T (p.Gly1224Val)
c.4061G>T (p.Gly1354Val)
c.3968G>T (p.Gly1323Val)
c.3443G>T (p.Gly1148Val)
c.3758G>T (p.Gly1253Val)
n.8330G>T
3g.9475710G>ACA432528957SETD5n.2903G>A
c.4044G>A (p.Gly1348=)
n.4937G>A
n.2328G>A
n.6190G>A
c.3948G>A (p.Gly1316=)
c.*4094G>A (n.*4094G>A)
c.*4017G>A (n.*4017G>A)
c.*4322G>A (n.*4322G>A)
c.*4053G>A (n.*4053G>A)
c.3654G>A (p.Gly1218=)
c.2722+554G>A
c.4005G>A (p.Gly1335=)
c.2984G>A
n.3289G>A
n.4112G>A
c.4122G>A (p.Gly1374=)
c.4101G>A (p.Gly1367=)
c.4083G>A (p.Gly1361=)
c.4065G>A (p.Gly1355=)
c.4026G>A (p.Gly1342=)
c.3987G>A (p.Gly1329=)
c.3711G>A (p.Gly1237=)
c.3672G>A (p.Gly1224=)
c.4062G>A (p.Gly1354=)
c.3969G>A (p.Gly1323=)
c.3444G>A (p.Gly1148=)
c.3759G>A (p.Gly1253=)
n.8331G>A
 gnomAD v4
3g.9475710G>CCA432528958SETD5n.2903G>C
c.4044G>C (p.Gly1348=)
n.4937G>C
n.2328G>C
n.6190G>C
c.3948G>C (p.Gly1316=)
c.*4094G>C (n.*4094G>C)
c.*4017G>C (n.*4017G>C)
c.*4322G>C (n.*4322G>C)
c.*4053G>C (n.*4053G>C)
c.3654G>C (p.Gly1218=)
c.2722+554G>C
c.4005G>C (p.Gly1335=)
c.2984G>C
n.3289G>C
n.4112G>C
c.4122G>C (p.Gly1374=)
c.4101G>C (p.Gly1367=)
c.4083G>C (p.Gly1361=)
c.4065G>C (p.Gly1355=)
c.4026G>C (p.Gly1342=)
c.3987G>C (p.Gly1329=)
c.3711G>C (p.Gly1237=)
c.3672G>C (p.Gly1224=)
c.4062G>C (p.Gly1354=)
c.3969G>C (p.Gly1323=)
c.3444G>C (p.Gly1148=)
c.3759G>C (p.Gly1253=)
n.8331G>C
3g.9475710G>TCA432528959SETD5n.2903G>T
c.4044G>T (p.Gly1348=)
n.4937G>T
n.2328G>T
n.6190G>T
c.3948G>T (p.Gly1316=)
c.*4094G>T (n.*4094G>T)
c.*4017G>T (n.*4017G>T)
c.*4322G>T (n.*4322G>T)
c.*4053G>T (n.*4053G>T)
c.3654G>T (p.Gly1218=)
c.2722+554G>T
c.4005G>T (p.Gly1335=)
c.2984G>T
n.3289G>T
n.4112G>T
c.4122G>T (p.Gly1374=)
c.4101G>T (p.Gly1367=)
c.4083G>T (p.Gly1361=)
c.4065G>T (p.Gly1355=)
c.4026G>T (p.Gly1342=)
c.3987G>T (p.Gly1329=)
c.3711G>T (p.Gly1237=)
c.3672G>T (p.Gly1224=)
c.4062G>T (p.Gly1354=)
c.3969G>T (p.Gly1323=)
c.3444G>T (p.Gly1148=)
c.3759G>T (p.Gly1253=)
n.8331G>T
3g.9475710_9475711delinsGACA1344742711SETD5n.2903_2904delinsGA
c.4044_4045delinsGA (p.Gly1348=)
n.4937_4938delinsGA
n.2328_2329delinsGA
n.6190_6191delinsGA
c.3948_3949delinsGA (p.Gly1316=)
c.*4094_*4095delinsGA (n.*4094_*4095delinsGA)
c.*4017_*4018delinsGA (n.*4017_*4018delinsGA)
c.*4322_*4323delinsGA (n.*4322_*4323delinsGA)
c.*4053_*4054delinsGA (n.*4053_*4054delinsGA)
c.3654_3655delinsGA (p.Gly1218=)
c.2722+554_2722+555delinsGA
c.4005_4006delinsGA (p.Gly1335=)
c.2984_2985delinsGA
n.3289_3290delinsGA
n.4112_4113delinsGA
c.4122_4123delinsGA (p.Gly1374=)
c.4101_4102delinsGA (p.Gly1367=)
c.4083_4084delinsGA (p.Gly1361=)
c.4065_4066delinsGA (p.Gly1355=)
c.4026_4027delinsGA (p.Gly1342=)
c.3987_3988delinsGA (p.Gly1329=)
c.3711_3712delinsGA (p.Gly1237=)
c.3672_3673delinsGA (p.Gly1224=)
c.4062_4063delinsGA (p.Gly1354=)
c.3969_3970delinsGA (p.Gly1323=)
c.3444_3445delinsGA (p.Gly1148=)
c.3759_3760delinsGA (p.Gly1253=)
n.8331_8332delinsGA
3g.9475711delCA16618017SETD5n.2904del
c.4045del (p.Thr1349HisfsTer?)
n.4938del
n.2329del
n.6191del
c.3949del (p.Thr1317HisfsTer?)
c.*4095del (n.*4095del)
c.*4018del (n.*4018del)
c.*4323del (n.*4323del)
c.*4054del (n.*4054del)
c.3655del (p.Thr1219HisfsTer?)
c.2722+555del
c.4006del (p.Thr1336HisfsTer?)
c.2985del
n.3290del
n.4113del
c.4123del (p.Thr1375HisfsTer?)
c.4102del (p.Thr1368HisfsTer?)
c.4084del (p.Thr1362HisfsTer?)
c.4066del (p.Thr1356HisfsTer?)
c.4027del (p.Thr1343HisfsTer?)
c.3988del (p.Thr1330HisfsTer?)
c.3712del (p.Thr1238HisfsTer?)
c.3673del (p.Thr1225HisfsTer?)
c.4063del (p.Thr1355HisfsTer?)
c.3970del (p.Thr1324HisfsTer?)
c.3445del (p.Thr1149HisfsTer?)
c.3760del (p.Thr1254HisfsTer?)
n.8332del
 ClinVar dbSNP
3g.9475711A=CA1344742715SETD5n.2904A=
c.4045A= (p.Thr1349=)
n.4938A=
n.2329A=
n.6191A=
c.3949A= (p.Thr1317=)
c.*4095A= (n.*4095A=)
c.*4018A= (n.*4018A=)
c.*4323A= (n.*4323A=)
c.*4054A= (n.*4054A=)
c.3655A= (p.Thr1219=)
c.2722+555A=
c.4006A= (p.Thr1336=)
c.2985A=
n.3290A=
n.4113A=
c.4123A= (p.Thr1375=)
c.4102A= (p.Thr1368=)
c.4084A= (p.Thr1362=)
c.4066A= (p.Thr1356=)
c.4027A= (p.Thr1343=)
c.3988A= (p.Thr1330=)
c.3712A= (p.Thr1238=)
c.3673A= (p.Thr1225=)
c.4063A= (p.Thr1355=)
c.3970A= (p.Thr1324=)
c.3445A= (p.Thr1149=)
c.3760A= (p.Thr1254=)
n.8332A=
3g.9475711A>CCA351692953SETD5n.2904A>C
c.4045A>C (p.Thr1349Pro)
n.4938A>C
n.2329A>C
n.6191A>C
c.3949A>C (p.Thr1317Pro)
c.*4095A>C (n.*4095A>C)
c.*4018A>C (n.*4018A>C)
c.*4323A>C (n.*4323A>C)
c.*4054A>C (n.*4054A>C)
c.3655A>C (p.Thr1219Pro)
c.2722+555A>C
c.4006A>C (p.Thr1336Pro)
c.2985A>C
n.3290A>C
n.4113A>C
c.4123A>C (p.Thr1375Pro)
c.4102A>C (p.Thr1368Pro)
c.4084A>C (p.Thr1362Pro)
c.4066A>C (p.Thr1356Pro)
c.4027A>C (p.Thr1343Pro)
c.3988A>C (p.Thr1330Pro)
c.3712A>C (p.Thr1238Pro)
c.3673A>C (p.Thr1225Pro)
c.4063A>C (p.Thr1355Pro)
c.3970A>C (p.Thr1324Pro)
c.3445A>C (p.Thr1149Pro)
c.3760A>C (p.Thr1254Pro)
n.8332A>C
3g.9475711A>GCA2239840SETD5n.2904A>G
c.4045A>G (p.Thr1349Ala)
n.4938A>G
n.2329A>G
n.6191A>G
c.3949A>G (p.Thr1317Ala)
c.*4095A>G (n.*4095A>G)
c.*4018A>G (n.*4018A>G)
c.*4323A>G (n.*4323A>G)
c.*4054A>G (n.*4054A>G)
c.3655A>G (p.Thr1219Ala)
c.2722+555A>G
c.4006A>G (p.Thr1336Ala)
c.2985A>G
n.3290A>G
n.4113A>G
c.4123A>G (p.Thr1375Ala)
c.4102A>G (p.Thr1368Ala)
c.4084A>G (p.Thr1362Ala)
c.4066A>G (p.Thr1356Ala)
c.4027A>G (p.Thr1343Ala)
c.3988A>G (p.Thr1330Ala)
c.3712A>G (p.Thr1238Ala)
c.3673A>G (p.Thr1225Ala)
c.4063A>G (p.Thr1355Ala)
c.3970A>G (p.Thr1324Ala)
c.3445A>G (p.Thr1149Ala)
c.3760A>G (p.Thr1254Ala)
n.8332A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.9475711A>TCA351692965SETD5n.2904A>T
c.4045A>T (p.Thr1349Ser)
n.4938A>T
n.2329A>T
n.6191A>T
c.3949A>T (p.Thr1317Ser)
c.*4095A>T (n.*4095A>T)
c.*4018A>T (n.*4018A>T)
c.*4323A>T (n.*4323A>T)
c.*4054A>T (n.*4054A>T)
c.3655A>T (p.Thr1219Ser)
c.2722+555A>T
c.4006A>T (p.Thr1336Ser)
c.2985A>T
n.3290A>T
n.4113A>T
c.4123A>T (p.Thr1375Ser)
c.4102A>T (p.Thr1368Ser)
c.4084A>T (p.Thr1362Ser)
c.4066A>T (p.Thr1356Ser)
c.4027A>T (p.Thr1343Ser)
c.3988A>T (p.Thr1330Ser)
c.3712A>T (p.Thr1238Ser)
c.3673A>T (p.Thr1225Ser)
c.4063A>T (p.Thr1355Ser)
c.3970A>T (p.Thr1324Ser)
c.3445A>T (p.Thr1149Ser)
c.3760A>T (p.Thr1254Ser)
n.8332A>T
3g.9475712C>ACA351692980SETD5n.2905C>A
c.4046C>A (p.Thr1349Lys)
n.4939C>A
n.2330C>A
n.6192C>A
c.3950C>A (p.Thr1317Lys)
c.*4096C>A (n.*4096C>A)
c.*4019C>A (n.*4019C>A)
c.*4324C>A (n.*4324C>A)
c.*4055C>A (n.*4055C>A)
c.3656C>A (p.Thr1219Lys)
c.2722+556C>A
c.4007C>A (p.Thr1336Lys)
c.2986C>A
n.3291C>A
n.4114C>A
c.4124C>A (p.Thr1375Lys)
c.4103C>A (p.Thr1368Lys)
c.4085C>A (p.Thr1362Lys)
c.4067C>A (p.Thr1356Lys)
c.4028C>A (p.Thr1343Lys)
c.3989C>A (p.Thr1330Lys)
c.3713C>A (p.Thr1238Lys)
c.3674C>A (p.Thr1225Lys)
c.4064C>A (p.Thr1355Lys)
c.3971C>A (p.Thr1324Lys)
c.3446C>A (p.Thr1149Lys)
c.3761C>A (p.Thr1254Lys)
n.8333C>A
3g.9475712C=CA1344742722SETD5n.2905C=
c.4046C= (p.Thr1349=)
n.4939C=
n.2330C=
n.6192C=
c.3950C= (p.Thr1317=)
c.*4096C= (n.*4096C=)
c.*4019C= (n.*4019C=)
c.*4324C= (n.*4324C=)
c.*4055C= (n.*4055C=)
c.3656C= (p.Thr1219=)
c.2722+556C=
c.4007C= (p.Thr1336=)
c.2986C=
n.3291C=
n.4114C=
c.4124C= (p.Thr1375=)
c.4103C= (p.Thr1368=)
c.4085C= (p.Thr1362=)
c.4067C= (p.Thr1356=)
c.4028C= (p.Thr1343=)
c.3989C= (p.Thr1330=)
c.3713C= (p.Thr1238=)
c.3674C= (p.Thr1225=)
c.4064C= (p.Thr1355=)
c.3971C= (p.Thr1324=)
c.3446C= (p.Thr1149=)
c.3761C= (p.Thr1254=)
n.8333C=
3g.9475712C>GCA351692988SETD5n.2905C>G
c.4046C>G (p.Thr1349Arg)
n.4939C>G
n.2330C>G
n.6192C>G
c.3950C>G (p.Thr1317Arg)
c.*4096C>G (n.*4096C>G)
c.*4019C>G (n.*4019C>G)
c.*4324C>G (n.*4324C>G)
c.*4055C>G (n.*4055C>G)
c.3656C>G (p.Thr1219Arg)
c.2722+556C>G
c.4007C>G (p.Thr1336Arg)
c.2986C>G
n.3291C>G
n.4114C>G
c.4124C>G (p.Thr1375Arg)
c.4103C>G (p.Thr1368Arg)
c.4085C>G (p.Thr1362Arg)
c.4067C>G (p.Thr1356Arg)
c.4028C>G (p.Thr1343Arg)
c.3989C>G (p.Thr1330Arg)
c.3713C>G (p.Thr1238Arg)
c.3674C>G (p.Thr1225Arg)
c.4064C>G (p.Thr1355Arg)
c.3971C>G (p.Thr1324Arg)
c.3446C>G (p.Thr1149Arg)
c.3761C>G (p.Thr1254Arg)
n.8333C>G
3g.9475712C>TCA351692983SETD5n.2905C>T
c.4046C>T (p.Thr1349Ile)
n.4939C>T
n.2330C>T
n.6192C>T
c.3950C>T (p.Thr1317Ile)
c.*4096C>T (n.*4096C>T)
c.*4019C>T (n.*4019C>T)
c.*4324C>T (n.*4324C>T)
c.*4055C>T (n.*4055C>T)
c.3656C>T (p.Thr1219Ile)
c.2722+556C>T
c.4007C>T (p.Thr1336Ile)
c.2986C>T
n.3291C>T
n.4114C>T
c.4124C>T (p.Thr1375Ile)
c.4103C>T (p.Thr1368Ile)
c.4085C>T (p.Thr1362Ile)
c.4067C>T (p.Thr1356Ile)
c.4028C>T (p.Thr1343Ile)
c.3989C>T (p.Thr1330Ile)
c.3713C>T (p.Thr1238Ile)
c.3674C>T (p.Thr1225Ile)
c.4064C>T (p.Thr1355Ile)
c.3971C>T (p.Thr1324Ile)
c.3446C>T (p.Thr1149Ile)
c.3761C>T (p.Thr1254Ile)
n.8333C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.9475713A=CA1344742727SETD5n.2906A=
c.4047A= (p.Thr1349=)
n.4940A=
n.2331A=
n.6193A=
c.3951A= (p.Thr1317=)
c.*4097A= (n.*4097A=)
c.*4020A= (n.*4020A=)
c.*4325A= (n.*4325A=)
c.*4056A= (n.*4056A=)
c.3657A= (p.Thr1219=)
c.2722+557A=
c.4008A= (p.Thr1336=)
c.2987A=
n.3292A=
n.4115A=
c.4125A= (p.Thr1375=)
c.4104A= (p.Thr1368=)
c.4086A= (p.Thr1362=)
c.4068A= (p.Thr1356=)
c.4029A= (p.Thr1343=)
c.3990A= (p.Thr1330=)
c.3714A= (p.Thr1238=)
c.3675A= (p.Thr1225=)
c.4065A= (p.Thr1355=)
c.3972A= (p.Thr1324=)
c.3447A= (p.Thr1149=)
c.3762A= (p.Thr1254=)
n.8334A=
3g.9475713A>CCA432528963SETD5n.2906A>C
c.4047A>C (p.Thr1349=)
n.4940A>C
n.2331A>C
n.6193A>C
c.3951A>C (p.Thr1317=)
c.*4097A>C (n.*4097A>C)
c.*4020A>C (n.*4020A>C)
c.*4325A>C (n.*4325A>C)
c.*4056A>C (n.*4056A>C)
c.3657A>C (p.Thr1219=)
c.2722+557A>C
c.4008A>C (p.Thr1336=)
c.2987A>C
n.3292A>C
n.4115A>C
c.4125A>C (p.Thr1375=)
c.4104A>C (p.Thr1368=)
c.4086A>C (p.Thr1362=)
c.4068A>C (p.Thr1356=)
c.4029A>C (p.Thr1343=)
c.3990A>C (p.Thr1330=)
c.3714A>C (p.Thr1238=)
c.3675A>C (p.Thr1225=)
c.4065A>C (p.Thr1355=)
c.3972A>C (p.Thr1324=)
c.3447A>C (p.Thr1149=)
c.3762A>C (p.Thr1254=)
n.8334A>C
 dbSNP
3g.9475713A>GCA432528968SETD5n.2906A>G
c.4047A>G (p.Thr1349=)
n.4940A>G
n.2331A>G
n.6193A>G
c.3951A>G (p.Thr1317=)
c.*4097A>G (n.*4097A>G)
c.*4020A>G (n.*4020A>G)
c.*4325A>G (n.*4325A>G)
c.*4056A>G (n.*4056A>G)
c.3657A>G (p.Thr1219=)
c.2722+557A>G
c.4008A>G (p.Thr1336=)
c.2987A>G
n.3292A>G
n.4115A>G
c.4125A>G (p.Thr1375=)
c.4104A>G (p.Thr1368=)
c.4086A>G (p.Thr1362=)
c.4068A>G (p.Thr1356=)
c.4029A>G (p.Thr1343=)
c.3990A>G (p.Thr1330=)
c.3714A>G (p.Thr1238=)
c.3675A>G (p.Thr1225=)
c.4065A>G (p.Thr1355=)
c.3972A>G (p.Thr1324=)
c.3447A>G (p.Thr1149=)
c.3762A>G (p.Thr1254=)
n.8334A>G
3g.9475713A>TCA432528966SETD5n.2906A>T
c.4047A>T (p.Thr1349=)
n.4940A>T
n.2331A>T
n.6193A>T
c.3951A>T (p.Thr1317=)
c.*4097A>T (n.*4097A>T)
c.*4020A>T (n.*4020A>T)
c.*4325A>T (n.*4325A>T)
c.*4056A>T (n.*4056A>T)
c.3657A>T (p.Thr1219=)
c.2722+557A>T
c.4008A>T (p.Thr1336=)
c.2987A>T
n.3292A>T
n.4115A>T
c.4125A>T (p.Thr1375=)
c.4104A>T (p.Thr1368=)
c.4086A>T (p.Thr1362=)
c.4068A>T (p.Thr1356=)
c.4029A>T (p.Thr1343=)
c.3990A>T (p.Thr1330=)
c.3714A>T (p.Thr1238=)
c.3675A>T (p.Thr1225=)
c.4065A>T (p.Thr1355=)
c.3972A>T (p.Thr1324=)
c.3447A>T (p.Thr1149=)
c.3762A>T (p.Thr1254=)
n.8334A>T
3g.9475714C>ACA351692993SETD5n.2907C>A
c.4048C>A (p.Pro1350Thr)
n.4941C>A
n.2332C>A
n.6194C>A
c.3952C>A (p.Pro1318Thr)
c.*4098C>A (n.*4098C>A)
c.*4021C>A (n.*4021C>A)
c.*4326C>A (n.*4326C>A)
c.*4057C>A (n.*4057C>A)
c.3658C>A (p.Pro1220Thr)
c.2722+558C>A
c.4009C>A (p.Pro1337Thr)
c.2988C>A
n.3293C>A
n.4116C>A
c.4126C>A (p.Pro1376Thr)
c.4105C>A (p.Pro1369Thr)
c.4087C>A (p.Pro1363Thr)
c.4069C>A (p.Pro1357Thr)
c.4030C>A (p.Pro1344Thr)
c.3991C>A (p.Pro1331Thr)
c.3715C>A (p.Pro1239Thr)
c.3676C>A (p.Pro1226Thr)
c.4066C>A (p.Pro1356Thr)
c.3973C>A (p.Pro1325Thr)
c.3448C>A (p.Pro1150Thr)
c.3763C>A (p.Pro1255Thr)
n.8335C>A
3g.9475714C>GCA351692995SETD5n.2907C>G
c.4048C>G (p.Pro1350Ala)
n.4941C>G
n.2332C>G
n.6194C>G
c.3952C>G (p.Pro1318Ala)
c.*4098C>G (n.*4098C>G)
c.*4021C>G (n.*4021C>G)
c.*4326C>G (n.*4326C>G)
c.*4057C>G (n.*4057C>G)
c.3658C>G (p.Pro1220Ala)
c.2722+558C>G
c.4009C>G (p.Pro1337Ala)
c.2988C>G
n.3293C>G
n.4116C>G
c.4126C>G (p.Pro1376Ala)
c.4105C>G (p.Pro1369Ala)
c.4087C>G (p.Pro1363Ala)
c.4069C>G (p.Pro1357Ala)
c.4030C>G (p.Pro1344Ala)
c.3991C>G (p.Pro1331Ala)
c.3715C>G (p.Pro1239Ala)
c.3676C>G (p.Pro1226Ala)
c.4066C>G (p.Pro1356Ala)
c.3973C>G (p.Pro1325Ala)
c.3448C>G (p.Pro1150Ala)
c.3763C>G (p.Pro1255Ala)
n.8335C>G
3g.9475714C>TCA351692996SETD5n.2907C>T
c.4048C>T (p.Pro1350Ser)
n.4941C>T
n.2332C>T
n.6194C>T
c.3952C>T (p.Pro1318Ser)
c.*4098C>T (n.*4098C>T)
c.*4021C>T (n.*4021C>T)
c.*4326C>T (n.*4326C>T)
c.*4057C>T (n.*4057C>T)
c.3658C>T (p.Pro1220Ser)
c.2722+558C>T
c.4009C>T (p.Pro1337Ser)
c.2988C>T
n.3293C>T
n.4116C>T
c.4126C>T (p.Pro1376Ser)
c.4105C>T (p.Pro1369Ser)
c.4087C>T (p.Pro1363Ser)
c.4069C>T (p.Pro1357Ser)
c.4030C>T (p.Pro1344Ser)
c.3991C>T (p.Pro1331Ser)
c.3715C>T (p.Pro1239Ser)
c.3676C>T (p.Pro1226Ser)
c.4066C>T (p.Pro1356Ser)
c.3973C>T (p.Pro1325Ser)
c.3448C>T (p.Pro1150Ser)
c.3763C>T (p.Pro1255Ser)
n.8335C>T
 gnomAD v4
3g.9475715C>ACA351692998SETD5n.2908C>A
c.4049C>A (p.Pro1350Gln)
n.4942C>A
n.2333C>A
n.6195C>A
c.3953C>A (p.Pro1318Gln)
c.*4099C>A (n.*4099C>A)
c.*4022C>A (n.*4022C>A)
c.*4327C>A (n.*4327C>A)
c.*4058C>A (n.*4058C>A)
c.3659C>A (p.Pro1220Gln)
c.2722+559C>A
c.4010C>A (p.Pro1337Gln)
c.2989C>A
n.3294C>A
n.4117C>A
c.4127C>A (p.Pro1376Gln)
c.4106C>A (p.Pro1369Gln)
c.4088C>A (p.Pro1363Gln)
c.4070C>A (p.Pro1357Gln)
c.4031C>A (p.Pro1344Gln)
c.3992C>A (p.Pro1331Gln)
c.3716C>A (p.Pro1239Gln)
c.3677C>A (p.Pro1226Gln)
c.4067C>A (p.Pro1356Gln)
c.3974C>A (p.Pro1325Gln)
c.3449C>A (p.Pro1150Gln)
c.3764C>A (p.Pro1255Gln)
n.8336C>A
3g.9475715C=CA1344742732SETD5n.2908C=
c.4049C= (p.Pro1350=)
n.4942C=
n.2333C=
n.6195C=
c.3953C= (p.Pro1318=)
c.*4099C= (n.*4099C=)
c.*4022C= (n.*4022C=)
c.*4327C= (n.*4327C=)
c.*4058C= (n.*4058C=)
c.3659C= (p.Pro1220=)
c.2722+559C=
c.4010C= (p.Pro1337=)
c.2989C=
n.3294C=
n.4117C=
c.4127C= (p.Pro1376=)
c.4106C= (p.Pro1369=)
c.4088C= (p.Pro1363=)
c.4070C= (p.Pro1357=)
c.4031C= (p.Pro1344=)
c.3992C= (p.Pro1331=)
c.3716C= (p.Pro1239=)
c.3677C= (p.Pro1226=)
c.4067C= (p.Pro1356=)
c.3974C= (p.Pro1325=)
c.3449C= (p.Pro1150=)
c.3764C= (p.Pro1255=)
n.8336C=
3g.9475715C>GCA351693002SETD5n.2908C>G
c.4049C>G (p.Pro1350Arg)
n.4942C>G
n.2333C>G
n.6195C>G
c.3953C>G (p.Pro1318Arg)
c.*4099C>G (n.*4099C>G)
c.*4022C>G (n.*4022C>G)
c.*4327C>G (n.*4327C>G)
c.*4058C>G (n.*4058C>G)
c.3659C>G (p.Pro1220Arg)
c.2722+559C>G
c.4010C>G (p.Pro1337Arg)
c.2989C>G
n.3294C>G
n.4117C>G
c.4127C>G (p.Pro1376Arg)
c.4106C>G (p.Pro1369Arg)
c.4088C>G (p.Pro1363Arg)
c.4070C>G (p.Pro1357Arg)
c.4031C>G (p.Pro1344Arg)
c.3992C>G (p.Pro1331Arg)
c.3716C>G (p.Pro1239Arg)
c.3677C>G (p.Pro1226Arg)
c.4067C>G (p.Pro1356Arg)
c.3974C>G (p.Pro1325Arg)
c.3449C>G (p.Pro1150Arg)
c.3764C>G (p.Pro1255Arg)
n.8336C>G
 ClinVar dbSNP gnomAD v4
3g.9475715C>TCA351693005SETD5n.2908C>T
c.4049C>T (p.Pro1350Leu)
n.4942C>T
n.2333C>T
n.6195C>T
c.3953C>T (p.Pro1318Leu)
c.*4099C>T (n.*4099C>T)
c.*4022C>T (n.*4022C>T)
c.*4327C>T (n.*4327C>T)
c.*4058C>T (n.*4058C>T)
c.3659C>T (p.Pro1220Leu)
c.2722+559C>T
c.4010C>T (p.Pro1337Leu)
c.2989C>T
n.3294C>T
n.4117C>T
c.4127C>T (p.Pro1376Leu)
c.4106C>T (p.Pro1369Leu)
c.4088C>T (p.Pro1363Leu)
c.4070C>T (p.Pro1357Leu)
c.4031C>T (p.Pro1344Leu)
c.3992C>T (p.Pro1331Leu)
c.3716C>T (p.Pro1239Leu)
c.3677C>T (p.Pro1226Leu)
c.4067C>T (p.Pro1356Leu)
c.3974C>T (p.Pro1325Leu)
c.3449C>T (p.Pro1150Leu)
c.3764C>T (p.Pro1255Leu)
n.8336C>T
3g.9475716A>CCA432528378SETD5n.2909A>C
c.4050A>C (p.Pro1350=)
n.4943A>C
n.2334A>C
n.6196A>C
c.3954A>C (p.Pro1318=)
c.*4100A>C (n.*4100A>C)
c.*4023A>C (n.*4023A>C)
c.*4328A>C (n.*4328A>C)
c.*4059A>C (n.*4059A>C)
c.3660A>C (p.Pro1220=)
c.2722+560A>C
c.4011A>C (p.Pro1337=)
c.2990A>C
n.3295A>C
n.4118A>C
c.4128A>C (p.Pro1376=)
c.4107A>C (p.Pro1369=)
c.4089A>C (p.Pro1363=)
c.4071A>C (p.Pro1357=)
c.4032A>C (p.Pro1344=)
c.3993A>C (p.Pro1331=)
c.3717A>C (p.Pro1239=)
c.3678A>C (p.Pro1226=)
c.4068A>C (p.Pro1356=)
c.3975A>C (p.Pro1325=)
c.3450A>C (p.Pro1150=)
c.3765A>C (p.Pro1255=)
n.8337A>C
3g.9475716A>GCA432528379SETD5n.2909A>G
c.4050A>G (p.Pro1350=)
n.4943A>G
n.2334A>G
n.6196A>G
c.3954A>G (p.Pro1318=)
c.*4100A>G (n.*4100A>G)
c.*4023A>G (n.*4023A>G)
c.*4328A>G (n.*4328A>G)
c.*4059A>G (n.*4059A>G)
c.3660A>G (p.Pro1220=)
c.2722+560A>G
c.4011A>G (p.Pro1337=)
c.2990A>G
n.3295A>G
n.4118A>G
c.4128A>G (p.Pro1376=)
c.4107A>G (p.Pro1369=)
c.4089A>G (p.Pro1363=)
c.4071A>G (p.Pro1357=)
c.4032A>G (p.Pro1344=)
c.3993A>G (p.Pro1331=)
c.3717A>G (p.Pro1239=)
c.3678A>G (p.Pro1226=)
c.4068A>G (p.Pro1356=)
c.3975A>G (p.Pro1325=)
c.3450A>G (p.Pro1150=)
c.3765A>G (p.Pro1255=)
n.8337A>G
 gnomAD v4
3g.9475716A>TCA432528380SETD5n.2909A>T
c.4050A>T (p.Pro1350=)
n.4943A>T
n.2334A>T
n.6196A>T
c.3954A>T (p.Pro1318=)
c.*4100A>T (n.*4100A>T)
c.*4023A>T (n.*4023A>T)
c.*4328A>T (n.*4328A>T)
c.*4059A>T (n.*4059A>T)
c.3660A>T (p.Pro1220=)
c.2722+560A>T
c.4011A>T (p.Pro1337=)
c.2990A>T
n.3295A>T
n.4118A>T
c.4128A>T (p.Pro1376=)
c.4107A>T (p.Pro1369=)
c.4089A>T (p.Pro1363=)
c.4071A>T (p.Pro1357=)
c.4032A>T (p.Pro1344=)
c.3993A>T (p.Pro1331=)
c.3717A>T (p.Pro1239=)
c.3678A>T (p.Pro1226=)
c.4068A>T (p.Pro1356=)
c.3975A>T (p.Pro1325=)
c.3450A>T (p.Pro1150=)
c.3765A>T (p.Pro1255=)
n.8337A>T
3g.9475717G>ACA351693030SETD5n.2910G>A
c.4051G>A (p.Gly1351Arg)
n.4944G>A
n.2335G>A
n.6197G>A
c.3955G>A (p.Gly1319Arg)
c.*4101G>A (n.*4101G>A)
c.*4024G>A (n.*4024G>A)
c.*4329G>A (n.*4329G>A)
c.*4060G>A (n.*4060G>A)
c.3661G>A (p.Gly1221Arg)
c.2722+561G>A
c.4012G>A (p.Gly1338Arg)
c.2991G>A
n.3296G>A
n.4119G>A
c.4129G>A (p.Gly1377Arg)
c.4108G>A (p.Gly1370Arg)
c.4090G>A (p.Gly1364Arg)
c.4072G>A (p.Gly1358Arg)
c.4033G>A (p.Gly1345Arg)
c.3994G>A (p.Gly1332Arg)
c.3718G>A (p.Gly1240Arg)
c.3679G>A (p.Gly1227Arg)
c.4069G>A (p.Gly1357Arg)
c.3976G>A (p.Gly1326Arg)
c.3451G>A (p.Gly1151Arg)
c.3766G>A (p.Gly1256Arg)
n.8338G>A
 gnomAD v4
3g.9475717G>CCA351693050SETD5n.2910G>C
c.4051G>C (p.Gly1351Arg)
n.4944G>C
n.2335G>C
n.6197G>C
c.3955G>C (p.Gly1319Arg)
c.*4101G>C (n.*4101G>C)
c.*4024G>C (n.*4024G>C)
c.*4329G>C (n.*4329G>C)
c.*4060G>C (n.*4060G>C)
c.3661G>C (p.Gly1221Arg)
c.2722+561G>C
c.4012G>C (p.Gly1338Arg)
c.2991G>C
n.3296G>C
n.4119G>C
c.4129G>C (p.Gly1377Arg)
c.4108G>C (p.Gly1370Arg)
c.4090G>C (p.Gly1364Arg)
c.4072G>C (p.Gly1358Arg)
c.4033G>C (p.Gly1345Arg)
c.3994G>C (p.Gly1332Arg)
c.3718G>C (p.Gly1240Arg)
c.3679G>C (p.Gly1227Arg)
c.4069G>C (p.Gly1357Arg)
c.3976G>C (p.Gly1326Arg)
c.3451G>C (p.Gly1151Arg)
c.3766G>C (p.Gly1256Arg)
n.8338G>C
 gnomAD v4
3g.9475717G>TCA351693054SETD5n.2910G>T
c.4051G>T (p.Gly1351Trp)
n.4944G>T
n.2335G>T
n.6197G>T
c.3955G>T (p.Gly1319Trp)
c.*4101G>T (n.*4101G>T)
c.*4024G>T (n.*4024G>T)
c.*4329G>T (n.*4329G>T)
c.*4060G>T (n.*4060G>T)
c.3661G>T (p.Gly1221Trp)
c.2722+561G>T
c.4012G>T (p.Gly1338Trp)
c.2991G>T
n.3296G>T
n.4119G>T
c.4129G>T (p.Gly1377Trp)
c.4108G>T (p.Gly1370Trp)
c.4090G>T (p.Gly1364Trp)
c.4072G>T (p.Gly1358Trp)
c.4033G>T (p.Gly1345Trp)
c.3994G>T (p.Gly1332Trp)
c.3718G>T (p.Gly1240Trp)
c.3679G>T (p.Gly1227Trp)
c.4069G>T (p.Gly1357Trp)
c.3976G>T (p.Gly1326Trp)
c.3451G>T (p.Gly1151Trp)
c.3766G>T (p.Gly1256Trp)
n.8338G>T
3g.9475718G>ACA351693060SETD5n.2911G>A
c.4052G>A (p.Gly1351Glu)
n.4945G>A
n.2336G>A
n.6198G>A
c.3956G>A (p.Gly1319Glu)
c.*4102G>A (n.*4102G>A)
c.*4025G>A (n.*4025G>A)
c.*4330G>A (n.*4330G>A)
c.*4061G>A (n.*4061G>A)
c.3662G>A (p.Gly1221Glu)
c.2722+562G>A
c.4013G>A (p.Gly1338Glu)
c.2992G>A
n.3297G>A
n.4120G>A
c.4130G>A (p.Gly1377Glu)
c.4109G>A (p.Gly1370Glu)
c.4091G>A (p.Gly1364Glu)
c.4073G>A (p.Gly1358Glu)
c.4034G>A (p.Gly1345Glu)
c.3995G>A (p.Gly1332Glu)
c.3719G>A (p.Gly1240Glu)
c.3680G>A (p.Gly1227Glu)
c.4070G>A (p.Gly1357Glu)
c.3977G>A (p.Gly1326Glu)
c.3452G>A (p.Gly1151Glu)
c.3767G>A (p.Gly1256Glu)
n.8339G>A
 ClinVar dbSNP
3g.9475718G>CCA351693063SETD5n.2911G>C
c.4052G>C (p.Gly1351Ala)
n.4945G>C
n.2336G>C
n.6198G>C
c.3956G>C (p.Gly1319Ala)
c.*4102G>C (n.*4102G>C)
c.*4025G>C (n.*4025G>C)
c.*4330G>C (n.*4330G>C)
c.*4061G>C (n.*4061G>C)
c.3662G>C (p.Gly1221Ala)
c.2722+562G>C
c.4013G>C (p.Gly1338Ala)
c.2992G>C
n.3297G>C
n.4120G>C
c.4130G>C (p.Gly1377Ala)
c.4109G>C (p.Gly1370Ala)
c.4091G>C (p.Gly1364Ala)
c.4073G>C (p.Gly1358Ala)
c.4034G>C (p.Gly1345Ala)
c.3995G>C (p.Gly1332Ala)
c.3719G>C (p.Gly1240Ala)
c.3680G>C (p.Gly1227Ala)
c.4070G>C (p.Gly1357Ala)
c.3977G>C (p.Gly1326Ala)
c.3452G>C (p.Gly1151Ala)
c.3767G>C (p.Gly1256Ala)
n.8339G>C
3g.9475718G=CA1344742735SETD5n.2911G=
c.4052G= (p.Gly1351=)
n.4945G=
n.2336G=
n.6198G=
c.3956G= (p.Gly1319=)
c.*4102G= (n.*4102G=)
c.*4025G= (n.*4025G=)
c.*4330G= (n.*4330G=)
c.*4061G= (n.*4061G=)
c.3662G= (p.Gly1221=)
c.2722+562G=
c.4013G= (p.Gly1338=)
c.2992G=
n.3297G=
n.4120G=
c.4130G= (p.Gly1377=)
c.4109G= (p.Gly1370=)
c.4091G= (p.Gly1364=)
c.4073G= (p.Gly1358=)
c.4034G= (p.Gly1345=)
c.3995G= (p.Gly1332=)
c.3719G= (p.Gly1240=)
c.3680G= (p.Gly1227=)
c.4070G= (p.Gly1357=)
c.3977G= (p.Gly1326=)
c.3452G= (p.Gly1151=)
c.3767G= (p.Gly1256=)
n.8339G=
3g.9475718G>TCA351693064SETD5n.2911G>T
c.4052G>T (p.Gly1351Val)
n.4945G>T
n.2336G>T
n.6198G>T
c.3956G>T (p.Gly1319Val)
c.*4102G>T (n.*4102G>T)
c.*4025G>T (n.*4025G>T)
c.*4330G>T (n.*4330G>T)
c.*4061G>T (n.*4061G>T)
c.3662G>T (p.Gly1221Val)
c.2722+562G>T
c.4013G>T (p.Gly1338Val)
c.2992G>T
n.3297G>T
n.4120G>T
c.4130G>T (p.Gly1377Val)
c.4109G>T (p.Gly1370Val)
c.4091G>T (p.Gly1364Val)
c.4073G>T (p.Gly1358Val)
c.4034G>T (p.Gly1345Val)
c.3995G>T (p.Gly1332Val)
c.3719G>T (p.Gly1240Val)
c.3680G>T (p.Gly1227Val)
c.4070G>T (p.Gly1357Val)
c.3977G>T (p.Gly1326Val)
c.3452G>T (p.Gly1151Val)
c.3767G>T (p.Gly1256Val)
n.8339G>T
3g.9475719G>ACA432528384SETD5n.2912G>A
c.4053G>A (p.Gly1351=)
n.4946G>A
n.2337G>A
n.6199G>A
c.3957G>A (p.Gly1319=)
c.*4103G>A (n.*4103G>A)
c.*4026G>A (n.*4026G>A)
c.*4331G>A (n.*4331G>A)
c.*4062G>A (n.*4062G>A)
c.3663G>A (p.Gly1221=)
c.2722+563G>A
c.4014G>A (p.Gly1338=)
c.2993G>A
n.3298G>A
n.4121G>A
c.4131G>A (p.Gly1377=)
c.4110G>A (p.Gly1370=)
c.4092G>A (p.Gly1364=)
c.4074G>A (p.Gly1358=)
c.4035G>A (p.Gly1345=)
c.3996G>A (p.Gly1332=)
c.3720G>A (p.Gly1240=)
c.3681G>A (p.Gly1227=)
c.4071G>A (p.Gly1357=)
c.3978G>A (p.Gly1326=)
c.3453G>A (p.Gly1151=)
c.3768G>A (p.Gly1256=)
n.8340G>A
 gnomAD v4
3g.9475719G>CCA432528385SETD5n.2912G>C
c.4053G>C (p.Gly1351=)
n.4946G>C
n.2337G>C
n.6199G>C
c.3957G>C (p.Gly1319=)
c.*4103G>C (n.*4103G>C)
c.*4026G>C (n.*4026G>C)
c.*4331G>C (n.*4331G>C)
c.*4062G>C (n.*4062G>C)
c.3663G>C (p.Gly1221=)
c.2722+563G>C
c.4014G>C (p.Gly1338=)
c.2993G>C
n.3298G>C
n.4121G>C
c.4131G>C (p.Gly1377=)
c.4110G>C (p.Gly1370=)
c.4092G>C (p.Gly1364=)
c.4074G>C (p.Gly1358=)
c.4035G>C (p.Gly1345=)
c.3996G>C (p.Gly1332=)
c.3720G>C (p.Gly1240=)
c.3681G>C (p.Gly1227=)
c.4071G>C (p.Gly1357=)
c.3978G>C (p.Gly1326=)
c.3453G>C (p.Gly1151=)
c.3768G>C (p.Gly1256=)
n.8340G>C
3g.9475719G>TCA432528386SETD5n.2912G>T
c.4053G>T (p.Gly1351=)
n.4946G>T
n.2337G>T
n.6199G>T
c.3957G>T (p.Gly1319=)
c.*4103G>T (n.*4103G>T)
c.*4026G>T (n.*4026G>T)
c.*4331G>T (n.*4331G>T)
c.*4062G>T (n.*4062G>T)
c.3663G>T (p.Gly1221=)
c.2722+563G>T
c.4014G>T (p.Gly1338=)
c.2993G>T
n.3298G>T
n.4121G>T
c.4131G>T (p.Gly1377=)
c.4110G>T (p.Gly1370=)
c.4092G>T (p.Gly1364=)
c.4074G>T (p.Gly1358=)
c.4035G>T (p.Gly1345=)
c.3996G>T (p.Gly1332=)
c.3720G>T (p.Gly1240=)
c.3681G>T (p.Gly1227=)
c.4071G>T (p.Gly1357=)
c.3978G>T (p.Gly1326=)
c.3453G>T (p.Gly1151=)
c.3768G>T (p.Gly1256=)
n.8340G>T
3g.9475720T>ACA351693091SETD5n.2913T>A
c.4054T>A (p.Tyr1352Asn)
n.4947T>A
n.2338T>A
n.6200T>A
c.3958T>A (p.Tyr1320Asn)
c.*4104T>A (n.*4104T>A)
c.*4027T>A (n.*4027T>A)
c.*4332T>A (n.*4332T>A)
c.*4063T>A (n.*4063T>A)
c.3664T>A (p.Tyr1222Asn)
c.2722+564T>A
c.4015T>A (p.Tyr1339Asn)
c.2994T>A
n.3299T>A
n.4122T>A
c.4132T>A (p.Tyr1378Asn)
c.4111T>A (p.Tyr1371Asn)
c.4093T>A (p.Tyr1365Asn)
c.4075T>A (p.Tyr1359Asn)
c.4036T>A (p.Tyr1346Asn)
c.3997T>A (p.Tyr1333Asn)
c.3721T>A (p.Tyr1241Asn)
c.3682T>A (p.Tyr1228Asn)
c.4072T>A (p.Tyr1358Asn)
c.3979T>A (p.Tyr1327Asn)
c.3454T>A (p.Tyr1152Asn)
c.3769T>A (p.Tyr1257Asn)
n.8341T>A
3g.9475720T>CCA2239841SETD5n.2913T>C
c.4054T>C (p.Tyr1352His)
n.4947T>C
n.2338T>C
n.6200T>C
c.3958T>C (p.Tyr1320His)
c.*4104T>C (n.*4104T>C)
c.*4027T>C (n.*4027T>C)
c.*4332T>C (n.*4332T>C)
c.*4063T>C (n.*4063T>C)
c.3664T>C (p.Tyr1222His)
c.2722+564T>C
c.4015T>C (p.Tyr1339His)
c.2994T>C
n.3299T>C
n.4122T>C
c.4132T>C (p.Tyr1378His)
c.4111T>C (p.Tyr1371His)
c.4093T>C (p.Tyr1365His)
c.4075T>C (p.Tyr1359His)
c.4036T>C (p.Tyr1346His)
c.3997T>C (p.Tyr1333His)
c.3721T>C (p.Tyr1241His)
c.3682T>C (p.Tyr1228His)
c.4072T>C (p.Tyr1358His)
c.3979T>C (p.Tyr1327His)
c.3454T>C (p.Tyr1152His)
c.3769T>C (p.Tyr1257His)
n.8341T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475720T>GCA351693074SETD5n.2913T>G
c.4054T>G (p.Tyr1352Asp)
n.4947T>G
n.2338T>G
n.6200T>G
c.3958T>G (p.Tyr1320Asp)
c.*4104T>G (n.*4104T>G)
c.*4027T>G (n.*4027T>G)
c.*4332T>G (n.*4332T>G)
c.*4063T>G (n.*4063T>G)
c.3664T>G (p.Tyr1222Asp)
c.2722+564T>G
c.4015T>G (p.Tyr1339Asp)
c.2994T>G
n.3299T>G
n.4122T>G
c.4132T>G (p.Tyr1378Asp)
c.4111T>G (p.Tyr1371Asp)
c.4093T>G (p.Tyr1365Asp)
c.4075T>G (p.Tyr1359Asp)
c.4036T>G (p.Tyr1346Asp)
c.3997T>G (p.Tyr1333Asp)
c.3721T>G (p.Tyr1241Asp)
c.3682T>G (p.Tyr1228Asp)
c.4072T>G (p.Tyr1358Asp)
c.3979T>G (p.Tyr1327Asp)
c.3454T>G (p.Tyr1152Asp)
c.3769T>G (p.Tyr1257Asp)
n.8341T>G
 dbSNP
3g.9475720T=CA1344742738SETD5n.2913T=
c.4054T= (p.Tyr1352=)
n.4947T=
n.2338T=
n.6200T=
c.3958T= (p.Tyr1320=)
c.*4104T= (n.*4104T=)
c.*4027T= (n.*4027T=)
c.*4332T= (n.*4332T=)
c.*4063T= (n.*4063T=)
c.3664T= (p.Tyr1222=)
c.2722+564T=
c.4015T= (p.Tyr1339=)
c.2994T=
n.3299T=
n.4122T=
c.4132T= (p.Tyr1378=)
c.4111T= (p.Tyr1371=)
c.4093T= (p.Tyr1365=)
c.4075T= (p.Tyr1359=)
c.4036T= (p.Tyr1346=)
c.3997T= (p.Tyr1333=)
c.3721T= (p.Tyr1241=)
c.3682T= (p.Tyr1228=)
c.4072T= (p.Tyr1358=)
c.3979T= (p.Tyr1327=)
c.3454T= (p.Tyr1152=)
c.3769T= (p.Tyr1257=)
n.8341T=
3g.9475721A=CA1344742744SETD5n.2914A=
c.4055A= (p.Tyr1352=)
n.4948A=
n.2339A=
n.6201A=
c.3959A= (p.Tyr1320=)
c.*4105A= (n.*4105A=)
c.*4028A= (n.*4028A=)
c.*4333A= (n.*4333A=)
c.*4064A= (n.*4064A=)
c.3665A= (p.Tyr1222=)
c.2722+565A=
c.4016A= (p.Tyr1339=)
c.2995A=
n.3300A=
n.4123A=
c.4133A= (p.Tyr1378=)
c.4112A= (p.Tyr1371=)
c.4094A= (p.Tyr1365=)
c.4076A= (p.Tyr1359=)
c.4037A= (p.Tyr1346=)
c.3998A= (p.Tyr1333=)
c.3722A= (p.Tyr1241=)
c.3683A= (p.Tyr1228=)
c.4073A= (p.Tyr1358=)
c.3980A= (p.Tyr1327=)
c.3455A= (p.Tyr1152=)
c.3770A= (p.Tyr1257=)
n.8342A=
3g.9475721A>CCA351693102SETD5n.2914A>C
c.4055A>C (p.Tyr1352Ser)
n.4948A>C
n.2339A>C
n.6201A>C
c.3959A>C (p.Tyr1320Ser)
c.*4105A>C (n.*4105A>C)
c.*4028A>C (n.*4028A>C)
c.*4333A>C (n.*4333A>C)
c.*4064A>C (n.*4064A>C)
c.3665A>C (p.Tyr1222Ser)
c.2722+565A>C
c.4016A>C (p.Tyr1339Ser)
c.2995A>C
n.3300A>C
n.4123A>C
c.4133A>C (p.Tyr1378Ser)
c.4112A>C (p.Tyr1371Ser)
c.4094A>C (p.Tyr1365Ser)
c.4076A>C (p.Tyr1359Ser)
c.4037A>C (p.Tyr1346Ser)
c.3998A>C (p.Tyr1333Ser)
c.3722A>C (p.Tyr1241Ser)
c.3683A>C (p.Tyr1228Ser)
c.4073A>C (p.Tyr1358Ser)
c.3980A>C (p.Tyr1327Ser)
c.3455A>C (p.Tyr1152Ser)
c.3770A>C (p.Tyr1257Ser)
n.8342A>C
3g.9475721A>GCA2239842SETD5n.2914A>G
c.4055A>G (p.Tyr1352Cys)
n.4948A>G
n.2339A>G
n.6201A>G
c.3959A>G (p.Tyr1320Cys)
c.*4105A>G (n.*4105A>G)
c.*4028A>G (n.*4028A>G)
c.*4333A>G (n.*4333A>G)
c.*4064A>G (n.*4064A>G)
c.3665A>G (p.Tyr1222Cys)
c.2722+565A>G
c.4016A>G (p.Tyr1339Cys)
c.2995A>G
n.3300A>G
n.4123A>G
c.4133A>G (p.Tyr1378Cys)
c.4112A>G (p.Tyr1371Cys)
c.4094A>G (p.Tyr1365Cys)
c.4076A>G (p.Tyr1359Cys)
c.4037A>G (p.Tyr1346Cys)
c.3998A>G (p.Tyr1333Cys)
c.3722A>G (p.Tyr1241Cys)
c.3683A>G (p.Tyr1228Cys)
c.4073A>G (p.Tyr1358Cys)
c.3980A>G (p.Tyr1327Cys)
c.3455A>G (p.Tyr1152Cys)
c.3770A>G (p.Tyr1257Cys)
n.8342A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.9475721A>TCA351693108SETD5n.2914A>T
c.4055A>T (p.Tyr1352Phe)
n.4948A>T
n.2339A>T
n.6201A>T
c.3959A>T (p.Tyr1320Phe)
c.*4105A>T (n.*4105A>T)
c.*4028A>T (n.*4028A>T)
c.*4333A>T (n.*4333A>T)
c.*4064A>T (n.*4064A>T)
c.3665A>T (p.Tyr1222Phe)
c.2722+565A>T
c.4016A>T (p.Tyr1339Phe)
c.2995A>T
n.3300A>T
n.4123A>T
c.4133A>T (p.Tyr1378Phe)
c.4112A>T (p.Tyr1371Phe)
c.4094A>T (p.Tyr1365Phe)
c.4076A>T (p.Tyr1359Phe)
c.4037A>T (p.Tyr1346Phe)
c.3998A>T (p.Tyr1333Phe)
c.3722A>T (p.Tyr1241Phe)
c.3683A>T (p.Tyr1228Phe)
c.4073A>T (p.Tyr1358Phe)
c.3980A>T (p.Tyr1327Phe)
c.3455A>T (p.Tyr1152Phe)
c.3770A>T (p.Tyr1257Phe)
n.8342A>T
3g.9475722T>ACA351693109SETD5n.2915T>A
c.4056T>A (p.Tyr1352Ter)
n.4949T>A
n.2340T>A
n.6202T>A
c.3960T>A (p.Tyr1320Ter)
c.*4106T>A (n.*4106T>A)
c.*4029T>A (n.*4029T>A)
c.*4334T>A (n.*4334T>A)
c.*4065T>A (n.*4065T>A)
c.3666T>A (p.Tyr1222Ter)
c.2722+566T>A
c.4017T>A (p.Tyr1339Ter)
c.2996T>A
n.3301T>A
n.4124T>A
c.4134T>A (p.Tyr1378Ter)
c.4113T>A (p.Tyr1371Ter)
c.4095T>A (p.Tyr1365Ter)
c.4077T>A (p.Tyr1359Ter)
c.4038T>A (p.Tyr1346Ter)
c.3999T>A (p.Tyr1333Ter)
c.3723T>A (p.Tyr1241Ter)
c.3684T>A (p.Tyr1228Ter)
c.4074T>A (p.Tyr1358Ter)
c.3981T>A (p.Tyr1327Ter)
c.3456T>A (p.Tyr1152Ter)
c.3771T>A (p.Tyr1257Ter)
n.8343T>A
3g.9475722T>CCA432528390SETD5n.2915T>C
c.4056T>C (p.Tyr1352=)
n.4949T>C
n.2340T>C
n.6202T>C
c.3960T>C (p.Tyr1320=)
c.*4106T>C (n.*4106T>C)
c.*4029T>C (n.*4029T>C)
c.*4334T>C (n.*4334T>C)
c.*4065T>C (n.*4065T>C)
c.3666T>C (p.Tyr1222=)
c.2722+566T>C
c.4017T>C (p.Tyr1339=)
c.2996T>C
n.3301T>C
n.4124T>C
c.4134T>C (p.Tyr1378=)
c.4113T>C (p.Tyr1371=)
c.4095T>C (p.Tyr1365=)
c.4077T>C (p.Tyr1359=)
c.4038T>C (p.Tyr1346=)
c.3999T>C (p.Tyr1333=)
c.3723T>C (p.Tyr1241=)
c.3684T>C (p.Tyr1228=)
c.4074T>C (p.Tyr1358=)
c.3981T>C (p.Tyr1327=)
c.3456T>C (p.Tyr1152=)
c.3771T>C (p.Tyr1257=)
n.8343T>C
3g.9475722T>GCA351693112SETD5n.2915T>G
c.4056T>G (p.Tyr1352Ter)
n.4949T>G
n.2340T>G
n.6202T>G
c.3960T>G (p.Tyr1320Ter)
c.*4106T>G (n.*4106T>G)
c.*4029T>G (n.*4029T>G)
c.*4334T>G (n.*4334T>G)
c.*4065T>G (n.*4065T>G)
c.3666T>G (p.Tyr1222Ter)
c.2722+566T>G
c.4017T>G (p.Tyr1339Ter)
c.2996T>G
n.3301T>G
n.4124T>G
c.4134T>G (p.Tyr1378Ter)
c.4113T>G (p.Tyr1371Ter)
c.4095T>G (p.Tyr1365Ter)
c.4077T>G (p.Tyr1359Ter)
c.4038T>G (p.Tyr1346Ter)
c.3999T>G (p.Tyr1333Ter)
c.3723T>G (p.Tyr1241Ter)
c.3684T>G (p.Tyr1228Ter)
c.4074T>G (p.Tyr1358Ter)
c.3981T>G (p.Tyr1327Ter)
c.3456T>G (p.Tyr1152Ter)
c.3771T>G (p.Tyr1257Ter)
n.8343T>G
3g.9475723T>ACA351693118SETD5n.2916T>A
c.4057T>A (p.Phe1353Ile)
n.4950T>A
n.2341T>A
n.6203T>A
c.3961T>A (p.Phe1321Ile)
c.*4107T>A (n.*4107T>A)
c.*4030T>A (n.*4030T>A)
c.*4335T>A (n.*4335T>A)
c.*4066T>A (n.*4066T>A)
c.3667T>A (p.Phe1223Ile)
c.2722+567T>A
c.4018T>A (p.Phe1340Ile)
c.2997T>A
n.3302T>A
n.4125T>A
c.4135T>A (p.Phe1379Ile)
c.4114T>A (p.Phe1372Ile)
c.4096T>A (p.Phe1366Ile)
c.4078T>A (p.Phe1360Ile)
c.4039T>A (p.Phe1347Ile)
c.4000T>A (p.Phe1334Ile)
c.3724T>A (p.Phe1242Ile)
c.3685T>A (p.Phe1229Ile)
c.4075T>A (p.Phe1359Ile)
c.3982T>A (p.Phe1328Ile)
c.3457T>A (p.Phe1153Ile)
c.3772T>A (p.Phe1258Ile)
n.8344T>A
 gnomAD v4
3g.9475723T>CCA351693126SETD5n.2916T>C
c.4057T>C (p.Phe1353Leu)
n.4950T>C
n.2341T>C
n.6203T>C
c.3961T>C (p.Phe1321Leu)
c.*4107T>C (n.*4107T>C)
c.*4030T>C (n.*4030T>C)
c.*4335T>C (n.*4335T>C)
c.*4066T>C (n.*4066T>C)
c.3667T>C (p.Phe1223Leu)
c.2722+567T>C
c.4018T>C (p.Phe1340Leu)
c.2997T>C
n.3302T>C
n.4125T>C
c.4135T>C (p.Phe1379Leu)
c.4114T>C (p.Phe1372Leu)
c.4096T>C (p.Phe1366Leu)
c.4078T>C (p.Phe1360Leu)
c.4039T>C (p.Phe1347Leu)
c.4000T>C (p.Phe1334Leu)
c.3724T>C (p.Phe1242Leu)
c.3685T>C (p.Phe1229Leu)
c.4075T>C (p.Phe1359Leu)
c.3982T>C (p.Phe1328Leu)
c.3457T>C (p.Phe1153Leu)
c.3772T>C (p.Phe1258Leu)
n.8344T>C
3g.9475723T>GCA351693134SETD5n.2916T>G
c.4057T>G (p.Phe1353Val)
n.4950T>G
n.2341T>G
n.6203T>G
c.3961T>G (p.Phe1321Val)
c.*4107T>G (n.*4107T>G)
c.*4030T>G (n.*4030T>G)
c.*4335T>G (n.*4335T>G)
c.*4066T>G (n.*4066T>G)
c.3667T>G (p.Phe1223Val)
c.2722+567T>G
c.4018T>G (p.Phe1340Val)
c.2997T>G
n.3302T>G
n.4125T>G
c.4135T>G (p.Phe1379Val)
c.4114T>G (p.Phe1372Val)
c.4096T>G (p.Phe1366Val)
c.4078T>G (p.Phe1360Val)
c.4039T>G (p.Phe1347Val)
c.4000T>G (p.Phe1334Val)
c.3724T>G (p.Phe1242Val)
c.3685T>G (p.Phe1229Val)
c.4075T>G (p.Phe1359Val)
c.3982T>G (p.Phe1328Val)
c.3457T>G (p.Phe1153Val)
c.3772T>G (p.Phe1258Val)
n.8344T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.9475723T=CA1344742749SETD5n.2916T=
c.4057T= (p.Phe1353=)
n.4950T=
n.2341T=
n.6203T=
c.3961T= (p.Phe1321=)
c.*4107T= (n.*4107T=)
c.*4030T= (n.*4030T=)
c.*4335T= (n.*4335T=)
c.*4066T= (n.*4066T=)
c.3667T= (p.Phe1223=)
c.2722+567T=
c.4018T= (p.Phe1340=)
c.2997T=
n.3302T=
n.4125T=
c.4135T= (p.Phe1379=)
c.4114T= (p.Phe1372=)
c.4096T= (p.Phe1366=)
c.4078T= (p.Phe1360=)
c.4039T= (p.Phe1347=)
c.4000T= (p.Phe1334=)
c.3724T= (p.Phe1242=)
c.3685T= (p.Phe1229=)
c.4075T= (p.Phe1359=)
c.3982T= (p.Phe1328=)
c.3457T= (p.Phe1153=)
c.3772T= (p.Phe1258=)
n.8344T=
3g.9475724T>ACA351693138SETD5n.2917T>A
c.4058T>A (p.Phe1353Tyr)
n.4951T>A
n.2342T>A
n.6204T>A
c.3962T>A (p.Phe1321Tyr)
c.*4108T>A (n.*4108T>A)
c.*4031T>A (n.*4031T>A)
c.*4336T>A (n.*4336T>A)
c.*4067T>A (n.*4067T>A)
c.3668T>A (p.Phe1223Tyr)
c.2722+568T>A
c.4019T>A (p.Phe1340Tyr)
c.2998T>A
n.3303T>A
n.4126T>A
c.4136T>A (p.Phe1379Tyr)
c.4115T>A (p.Phe1372Tyr)
c.4097T>A (p.Phe1366Tyr)
c.4079T>A (p.Phe1360Tyr)
c.4040T>A (p.Phe1347Tyr)
c.4001T>A (p.Phe1334Tyr)
c.3725T>A (p.Phe1242Tyr)
c.3686T>A (p.Phe1229Tyr)
c.4076T>A (p.Phe1359Tyr)
c.3983T>A (p.Phe1328Tyr)
c.3458T>A (p.Phe1153Tyr)
c.3773T>A (p.Phe1258Tyr)
n.8345T>A
3g.9475724T>CCA351693144SETD5n.2917T>C
c.4058T>C (p.Phe1353Ser)
n.4951T>C
n.2342T>C
n.6204T>C
c.3962T>C (p.Phe1321Ser)
c.*4108T>C (n.*4108T>C)
c.*4031T>C (n.*4031T>C)
c.*4336T>C (n.*4336T>C)
c.*4067T>C (n.*4067T>C)
c.3668T>C (p.Phe1223Ser)
c.2722+568T>C
c.4019T>C (p.Phe1340Ser)
c.2998T>C
n.3303T>C
n.4126T>C
c.4136T>C (p.Phe1379Ser)
c.4115T>C (p.Phe1372Ser)
c.4097T>C (p.Phe1366Ser)
c.4079T>C (p.Phe1360Ser)
c.4040T>C (p.Phe1347Ser)
c.4001T>C (p.Phe1334Ser)
c.3725T>C (p.Phe1242Ser)
c.3686T>C (p.Phe1229Ser)
c.4076T>C (p.Phe1359Ser)
c.3983T>C (p.Phe1328Ser)
c.3458T>C (p.Phe1153Ser)
c.3773T>C (p.Phe1258Ser)
n.8345T>C
3g.9475724T>GCA351693146SETD5n.2917T>G
c.4058T>G (p.Phe1353Cys)
n.4951T>G
n.2342T>G
n.6204T>G
c.3962T>G (p.Phe1321Cys)
c.*4108T>G (n.*4108T>G)
c.*4031T>G (n.*4031T>G)
c.*4336T>G (n.*4336T>G)
c.*4067T>G (n.*4067T>G)
c.3668T>G (p.Phe1223Cys)
c.2722+568T>G
c.4019T>G (p.Phe1340Cys)
c.2998T>G
n.3303T>G
n.4126T>G
c.4136T>G (p.Phe1379Cys)
c.4115T>G (p.Phe1372Cys)
c.4097T>G (p.Phe1366Cys)
c.4079T>G (p.Phe1360Cys)
c.4040T>G (p.Phe1347Cys)
c.4001T>G (p.Phe1334Cys)
c.3725T>G (p.Phe1242Cys)
c.3686T>G (p.Phe1229Cys)
c.4076T>G (p.Phe1359Cys)
c.3983T>G (p.Phe1328Cys)
c.3458T>G (p.Phe1153Cys)
c.3773T>G (p.Phe1258Cys)
n.8345T>G
3g.9475725T>ACA351693154SETD5n.2918T>A
c.4059T>A (p.Phe1353Leu)
n.4952T>A
n.2343T>A
n.6205T>A
c.3963T>A (p.Phe1321Leu)
c.*4109T>A (n.*4109T>A)
c.*4032T>A (n.*4032T>A)
c.*4337T>A (n.*4337T>A)
c.*4068T>A (n.*4068T>A)
c.3669T>A (p.Phe1223Leu)
c.2722+569T>A
c.4020T>A (p.Phe1340Leu)
c.2999T>A
n.3304T>A
n.4127T>A
c.4137T>A (p.Phe1379Leu)
c.4116T>A (p.Phe1372Leu)
c.4098T>A (p.Phe1366Leu)
c.4080T>A (p.Phe1360Leu)
c.4041T>A (p.Phe1347Leu)
c.4002T>A (p.Phe1334Leu)
c.3726T>A (p.Phe1242Leu)
c.3687T>A (p.Phe1229Leu)
c.4077T>A (p.Phe1359Leu)
c.3984T>A (p.Phe1328Leu)
c.3459T>A (p.Phe1153Leu)
c.3774T>A (p.Phe1258Leu)
n.8346T>A
3g.9475725T>CCA432528393SETD5n.2918T>C
c.4059T>C (p.Phe1353=)
n.4952T>C
n.2343T>C
n.6205T>C
c.3963T>C (p.Phe1321=)
c.*4109T>C (n.*4109T>C)
c.*4032T>C (n.*4032T>C)
c.*4337T>C (n.*4337T>C)
c.*4068T>C (n.*4068T>C)
c.3669T>C (p.Phe1223=)
c.2722+569T>C
c.4020T>C (p.Phe1340=)
c.2999T>C
n.3304T>C
n.4127T>C
c.4137T>C (p.Phe1379=)
c.4116T>C (p.Phe1372=)
c.4098T>C (p.Phe1366=)
c.4080T>C (p.Phe1360=)
c.4041T>C (p.Phe1347=)
c.4002T>C (p.Phe1334=)
c.3726T>C (p.Phe1242=)
c.3687T>C (p.Phe1229=)
c.4077T>C (p.Phe1359=)
c.3984T>C (p.Phe1328=)
c.3459T>C (p.Phe1153=)
c.3774T>C (p.Phe1258=)
n.8346T>C
3g.9475725T>GCA351693158SETD5n.2918T>G
c.4059T>G (p.Phe1353Leu)
n.4952T>G
n.2343T>G
n.6205T>G
c.3963T>G (p.Phe1321Leu)
c.*4109T>G (n.*4109T>G)
c.*4032T>G (n.*4032T>G)
c.*4337T>G (n.*4337T>G)
c.*4068T>G (n.*4068T>G)
c.3669T>G (p.Phe1223Leu)
c.2722+569T>G
c.4020T>G (p.Phe1340Leu)
c.2999T>G
n.3304T>G
n.4127T>G
c.4137T>G (p.Phe1379Leu)
c.4116T>G (p.Phe1372Leu)
c.4098T>G (p.Phe1366Leu)
c.4080T>G (p.Phe1360Leu)
c.4041T>G (p.Phe1347Leu)
c.4002T>G (p.Phe1334Leu)
c.3726T>G (p.Phe1242Leu)
c.3687T>G (p.Phe1229Leu)
c.4077T>G (p.Phe1359Leu)
c.3984T>G (p.Phe1328Leu)
c.3459T>G (p.Phe1153Leu)
c.3774T>G (p.Phe1258Leu)
n.8346T>G
3g.9475726A>CCA351693177SETD5n.2919A>C
c.4060A>C (p.Ser1354Arg)
n.4953A>C
n.2344A>C
n.6206A>C
c.3964A>C (p.Ser1322Arg)
c.*4110A>C (n.*4110A>C)
c.*4033A>C (n.*4033A>C)
c.*4338A>C (n.*4338A>C)
c.*4069A>C (n.*4069A>C)
c.3670A>C (p.Ser1224Arg)
c.2722+570A>C
c.4021A>C (p.Ser1341Arg)
c.3000A>C
n.3305A>C
n.4128A>C
c.4138A>C (p.Ser1380Arg)
c.4117A>C (p.Ser1373Arg)
c.4099A>C (p.Ser1367Arg)
c.4081A>C (p.Ser1361Arg)
c.4042A>C (p.Ser1348Arg)
c.4003A>C (p.Ser1335Arg)
c.3727A>C (p.Ser1243Arg)
c.3688A>C (p.Ser1230Arg)
c.4078A>C (p.Ser1360Arg)
c.3985A>C (p.Ser1329Arg)
c.3460A>C (p.Ser1154Arg)
c.3775A>C (p.Ser1259Arg)
n.8347A>C
3g.9475726A>GCA351693181SETD5n.2919A>G
c.4060A>G (p.Ser1354Gly)
n.4953A>G
n.2344A>G
n.6206A>G
c.3964A>G (p.Ser1322Gly)
c.*4110A>G (n.*4110A>G)
c.*4033A>G (n.*4033A>G)
c.*4338A>G (n.*4338A>G)
c.*4069A>G (n.*4069A>G)
c.3670A>G (p.Ser1224Gly)
c.2722+570A>G
c.4021A>G (p.Ser1341Gly)
c.3000A>G
n.3305A>G
n.4128A>G
c.4138A>G (p.Ser1380Gly)
c.4117A>G (p.Ser1373Gly)
c.4099A>G (p.Ser1367Gly)
c.4081A>G (p.Ser1361Gly)
c.4042A>G (p.Ser1348Gly)
c.4003A>G (p.Ser1335Gly)
c.3727A>G (p.Ser1243Gly)
c.3688A>G (p.Ser1230Gly)
c.4078A>G (p.Ser1360Gly)
c.3985A>G (p.Ser1329Gly)
c.3460A>G (p.Ser1154Gly)
c.3775A>G (p.Ser1259Gly)
n.8347A>G
3g.9475726A>TCA351693185SETD5n.2919A>T
c.4060A>T (p.Ser1354Cys)
n.4953A>T
n.2344A>T
n.6206A>T
c.3964A>T (p.Ser1322Cys)
c.*4110A>T (n.*4110A>T)
c.*4033A>T (n.*4033A>T)
c.*4338A>T (n.*4338A>T)
c.*4069A>T (n.*4069A>T)
c.3670A>T (p.Ser1224Cys)
c.2722+570A>T
c.4021A>T (p.Ser1341Cys)
c.3000A>T
n.3305A>T
n.4128A>T
c.4138A>T (p.Ser1380Cys)
c.4117A>T (p.Ser1373Cys)
c.4099A>T (p.Ser1367Cys)
c.4081A>T (p.Ser1361Cys)
c.4042A>T (p.Ser1348Cys)
c.4003A>T (p.Ser1335Cys)
c.3727A>T (p.Ser1243Cys)
c.3688A>T (p.Ser1230Cys)
c.4078A>T (p.Ser1360Cys)
c.3985A>T (p.Ser1329Cys)
c.3460A>T (p.Ser1154Cys)
c.3775A>T (p.Ser1259Cys)
n.8347A>T
 COSMIC COSMIC
3g.9475727G>ACA351693188SETD5n.2920G>A
c.4061G>A (p.Ser1354Asn)
n.4954G>A
n.2345G>A
n.6207G>A
c.3965G>A (p.Ser1322Asn)
c.*4111G>A (n.*4111G>A)
c.*4034G>A (n.*4034G>A)
c.*4339G>A (n.*4339G>A)
c.*4070G>A (n.*4070G>A)
c.3671G>A (p.Ser1224Asn)
c.2722+571G>A
c.4022G>A (p.Ser1341Asn)
c.3001G>A
n.3306G>A
n.4129G>A
c.4139G>A (p.Ser1380Asn)
c.4118G>A (p.Ser1373Asn)
c.4100G>A (p.Ser1367Asn)
c.4082G>A (p.Ser1361Asn)
c.4043G>A (p.Ser1348Asn)
c.4004G>A (p.Ser1335Asn)
c.3728G>A (p.Ser1243Asn)
c.3689G>A (p.Ser1230Asn)
c.4079G>A (p.Ser1360Asn)
c.3986G>A (p.Ser1329Asn)
c.3461G>A (p.Ser1154Asn)
c.3776G>A (p.Ser1259Asn)
n.8348G>A
3g.9475727G>CCA351693195SETD5n.2920G>C
c.4061G>C (p.Ser1354Thr)
n.4954G>C
n.2345G>C
n.6207G>C
c.3965G>C (p.Ser1322Thr)
c.*4111G>C (n.*4111G>C)
c.*4034G>C (n.*4034G>C)
c.*4339G>C (n.*4339G>C)
c.*4070G>C (n.*4070G>C)
c.3671G>C (p.Ser1224Thr)
c.2722+571G>C
c.4022G>C (p.Ser1341Thr)
c.3001G>C
n.3306G>C
n.4129G>C
c.4139G>C (p.Ser1380Thr)
c.4118G>C (p.Ser1373Thr)
c.4100G>C (p.Ser1367Thr)
c.4082G>C (p.Ser1361Thr)
c.4043G>C (p.Ser1348Thr)
c.4004G>C (p.Ser1335Thr)
c.3728G>C (p.Ser1243Thr)
c.3689G>C (p.Ser1230Thr)
c.4079G>C (p.Ser1360Thr)
c.3986G>C (p.Ser1329Thr)
c.3461G>C (p.Ser1154Thr)
c.3776G>C (p.Ser1259Thr)
n.8348G>C
3g.9475727G>TCA351693202SETD5n.2920G>T
c.4061G>T (p.Ser1354Ile)
n.4954G>T
n.2345G>T
n.6207G>T
c.3965G>T (p.Ser1322Ile)
c.*4111G>T (n.*4111G>T)
c.*4034G>T (n.*4034G>T)
c.*4339G>T (n.*4339G>T)
c.*4070G>T (n.*4070G>T)
c.3671G>T (p.Ser1224Ile)
c.2722+571G>T
c.4022G>T (p.Ser1341Ile)
c.3001G>T
n.3306G>T
n.4129G>T
c.4139G>T (p.Ser1380Ile)
c.4118G>T (p.Ser1373Ile)
c.4100G>T (p.Ser1367Ile)
c.4082G>T (p.Ser1361Ile)
c.4043G>T (p.Ser1348Ile)
c.4004G>T (p.Ser1335Ile)
c.3728G>T (p.Ser1243Ile)
c.3689G>T (p.Ser1230Ile)
c.4079G>T (p.Ser1360Ile)
c.3986G>T (p.Ser1329Ile)
c.3461G>T (p.Ser1154Ile)
c.3776G>T (p.Ser1259Ile)
n.8348G>T
3g.9475728C>ACA351693209SETD5n.2921C>A
c.4062C>A (p.Ser1354Arg)
n.4955C>A
n.2346C>A
n.6208C>A
c.3966C>A (p.Ser1322Arg)
c.*4112C>A (n.*4112C>A)
c.*4035C>A (n.*4035C>A)
c.*4340C>A (n.*4340C>A)
c.*4071C>A (n.*4071C>A)
c.3672C>A (p.Ser1224Arg)
c.2722+572C>A
c.4023C>A (p.Ser1341Arg)
c.3002C>A
n.3307C>A
n.4130C>A
c.4140C>A (p.Ser1380Arg)
c.4119C>A (p.Ser1373Arg)
c.4101C>A (p.Ser1367Arg)
c.4083C>A (p.Ser1361Arg)
c.4044C>A (p.Ser1348Arg)
c.4005C>A (p.Ser1335Arg)
c.3729C>A (p.Ser1243Arg)
c.3690C>A (p.Ser1230Arg)
c.4080C>A (p.Ser1360Arg)
c.3987C>A (p.Ser1329Arg)
c.3462C>A (p.Ser1154Arg)
c.3777C>A (p.Ser1259Arg)
n.8349C>A
3g.9475728C=CA1344742752SETD5n.2921C=
c.4062C= (p.Ser1354=)
n.4955C=
n.2346C=
n.6208C=
c.3966C= (p.Ser1322=)
c.*4112C= (n.*4112C=)
c.*4035C= (n.*4035C=)
c.*4340C= (n.*4340C=)
c.*4071C= (n.*4071C=)
c.3672C= (p.Ser1224=)
c.2722+572C=
c.4023C= (p.Ser1341=)
c.3002C=
n.3307C=
n.4130C=
c.4140C= (p.Ser1380=)
c.4119C= (p.Ser1373=)
c.4101C= (p.Ser1367=)
c.4083C= (p.Ser1361=)
c.4044C= (p.Ser1348=)
c.4005C= (p.Ser1335=)
c.3729C= (p.Ser1243=)
c.3690C= (p.Ser1230=)
c.4080C= (p.Ser1360=)
c.3987C= (p.Ser1329=)
c.3462C= (p.Ser1154=)
c.3777C= (p.Ser1259=)
n.8349C=
3g.9475728C>GCA351693211SETD5n.2921C>G
c.4062C>G (p.Ser1354Arg)
n.4955C>G
n.2346C>G
n.6208C>G
c.3966C>G (p.Ser1322Arg)
c.*4112C>G (n.*4112C>G)
c.*4035C>G (n.*4035C>G)
c.*4340C>G (n.*4340C>G)
c.*4071C>G (n.*4071C>G)
c.3672C>G (p.Ser1224Arg)
c.2722+572C>G
c.4023C>G (p.Ser1341Arg)
c.3002C>G
n.3307C>G
n.4130C>G
c.4140C>G (p.Ser1380Arg)
c.4119C>G (p.Ser1373Arg)
c.4101C>G (p.Ser1367Arg)
c.4083C>G (p.Ser1361Arg)
c.4044C>G (p.Ser1348Arg)
c.4005C>G (p.Ser1335Arg)
c.3729C>G (p.Ser1243Arg)
c.3690C>G (p.Ser1230Arg)
c.4080C>G (p.Ser1360Arg)
c.3987C>G (p.Ser1329Arg)
c.3462C>G (p.Ser1154Arg)
c.3777C>G (p.Ser1259Arg)
n.8349C>G
3g.9475728C>TCA432528398SETD5n.2921C>T
c.4062C>T (p.Ser1354=)
n.4955C>T
n.2346C>T
n.6208C>T
c.3966C>T (p.Ser1322=)
c.*4112C>T (n.*4112C>T)
c.*4035C>T (n.*4035C>T)
c.*4340C>T (n.*4340C>T)
c.*4071C>T (n.*4071C>T)
c.3672C>T (p.Ser1224=)
c.2722+572C>T
c.4023C>T (p.Ser1341=)
c.3002C>T
n.3307C>T
n.4130C>T
c.4140C>T (p.Ser1380=)
c.4119C>T (p.Ser1373=)
c.4101C>T (p.Ser1367=)
c.4083C>T (p.Ser1361=)
c.4044C>T (p.Ser1348=)
c.4005C>T (p.Ser1335=)
c.3729C>T (p.Ser1243=)
c.3690C>T (p.Ser1230=)
c.4080C>T (p.Ser1360=)
c.3987C>T (p.Ser1329=)
c.3462C>T (p.Ser1154=)
c.3777C>T (p.Ser1259=)
n.8349C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.9475729A=CA1344742756SETD5n.2922A=
c.4063A= (p.Ser1355=)
n.4956A=
n.2347A=
n.6209A=
c.3967A= (p.Ser1323=)
c.*4113A= (n.*4113A=)
c.*4036A= (n.*4036A=)
c.*4341A= (n.*4341A=)
c.*4072A= (n.*4072A=)
c.3673A= (p.Ser1225=)
c.2722+573A=
c.4024A= (p.Ser1342=)
c.3003A=
n.3308A=
n.4131A=
c.4141A= (p.Ser1381=)
c.4120A= (p.Ser1374=)
c.4102A= (p.Ser1368=)
c.4084A= (p.Ser1362=)
c.4045A= (p.Ser1349=)
c.4006A= (p.Ser1336=)
c.3730A= (p.Ser1244=)
c.3691A= (p.Ser1231=)
c.4081A= (p.Ser1361=)
c.3988A= (p.Ser1330=)
c.3463A= (p.Ser1155=)
c.3778A= (p.Ser1260=)
n.8350A=
3g.9475729A>CCA351693217SETD5n.2922A>C
c.4063A>C (p.Ser1355Arg)
n.4956A>C
n.2347A>C
n.6209A>C
c.3967A>C (p.Ser1323Arg)
c.*4113A>C (n.*4113A>C)
c.*4036A>C (n.*4036A>C)
c.*4341A>C (n.*4341A>C)
c.*4072A>C (n.*4072A>C)
c.3673A>C (p.Ser1225Arg)
c.2722+573A>C
c.4024A>C (p.Ser1342Arg)
c.3003A>C
n.3308A>C
n.4131A>C
c.4141A>C (p.Ser1381Arg)
c.4120A>C (p.Ser1374Arg)
c.4102A>C (p.Ser1368Arg)
c.4084A>C (p.Ser1362Arg)
c.4045A>C (p.Ser1349Arg)
c.4006A>C (p.Ser1336Arg)
c.3730A>C (p.Ser1244Arg)
c.3691A>C (p.Ser1231Arg)
c.4081A>C (p.Ser1361Arg)
c.3988A>C (p.Ser1330Arg)
c.3463A>C (p.Ser1155Arg)
c.3778A>C (p.Ser1260Arg)
n.8350A>C
 dbSNP
3g.9475729A>GCA351693225SETD5n.2922A>G
c.4063A>G (p.Ser1355Gly)
n.4956A>G
n.2347A>G
n.6209A>G
c.3967A>G (p.Ser1323Gly)
c.*4113A>G (n.*4113A>G)
c.*4036A>G (n.*4036A>G)
c.*4341A>G (n.*4341A>G)
c.*4072A>G (n.*4072A>G)
c.3673A>G (p.Ser1225Gly)
c.2722+573A>G
c.4024A>G (p.Ser1342Gly)
c.3003A>G
n.3308A>G
n.4131A>G
c.4141A>G (p.Ser1381Gly)
c.4120A>G (p.Ser1374Gly)
c.4102A>G (p.Ser1368Gly)
c.4084A>G (p.Ser1362Gly)
c.4045A>G (p.Ser1349Gly)
c.4006A>G (p.Ser1336Gly)
c.3730A>G (p.Ser1244Gly)
c.3691A>G (p.Ser1231Gly)
c.4081A>G (p.Ser1361Gly)
c.3988A>G (p.Ser1330Gly)
c.3463A>G (p.Ser1155Gly)
c.3778A>G (p.Ser1260Gly)
n.8350A>G
3g.9475729A>TCA351693230SETD5n.2922A>T
c.4063A>T (p.Ser1355Cys)
n.4956A>T
n.2347A>T
n.6209A>T
c.3967A>T (p.Ser1323Cys)
c.*4113A>T (n.*4113A>T)
c.*4036A>T (n.*4036A>T)
c.*4341A>T (n.*4341A>T)
c.*4072A>T (n.*4072A>T)
c.3673A>T (p.Ser1225Cys)
c.2722+573A>T
c.4024A>T (p.Ser1342Cys)
c.3003A>T
n.3308A>T
n.4131A>T
c.4141A>T (p.Ser1381Cys)
c.4120A>T (p.Ser1374Cys)
c.4102A>T (p.Ser1368Cys)
c.4084A>T (p.Ser1362Cys)
c.4045A>T (p.Ser1349Cys)
c.4006A>T (p.Ser1336Cys)
c.3730A>T (p.Ser1244Cys)
c.3691A>T (p.Ser1231Cys)
c.4081A>T (p.Ser1361Cys)
c.3988A>T (p.Ser1330Cys)
c.3463A>T (p.Ser1155Cys)
c.3778A>T (p.Ser1260Cys)
n.8350A>T
3g.9475730G>ACA351693235SETD5n.2923G>A
c.4064G>A (p.Ser1355Asn)
n.4957G>A
n.2348G>A
n.6210G>A
c.3968G>A (p.Ser1323Asn)
c.*4114G>A (n.*4114G>A)
c.*4037G>A (n.*4037G>A)
c.*4342G>A (n.*4342G>A)
c.*4073G>A (n.*4073G>A)
c.3674G>A (p.Ser1225Asn)
c.2722+574G>A
c.4025G>A (p.Ser1342Asn)
c.3004G>A
n.3309G>A
n.4132G>A
c.4142G>A (p.Ser1381Asn)
c.4121G>A (p.Ser1374Asn)
c.4103G>A (p.Ser1368Asn)
c.4085G>A (p.Ser1362Asn)
c.4046G>A (p.Ser1349Asn)
c.4007G>A (p.Ser1336Asn)
c.3731G>A (p.Ser1244Asn)
c.3692G>A (p.Ser1231Asn)
c.4082G>A (p.Ser1361Asn)
c.3989G>A (p.Ser1330Asn)
c.3464G>A (p.Ser1155Asn)
c.3779G>A (p.Ser1260Asn)
n.8351G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.9475730G>CCA351693240SETD5n.2923G>C
c.4064G>C (p.Ser1355Thr)
n.4957G>C
n.2348G>C
n.6210G>C
c.3968G>C (p.Ser1323Thr)
c.*4114G>C (n.*4114G>C)
c.*4037G>C (n.*4037G>C)
c.*4342G>C (n.*4342G>C)
c.*4073G>C (n.*4073G>C)
c.3674G>C (p.Ser1225Thr)
c.2722+574G>C
c.4025G>C (p.Ser1342Thr)
c.3004G>C
n.3309G>C
n.4132G>C
c.4142G>C (p.Ser1381Thr)
c.4121G>C (p.Ser1374Thr)
c.4103G>C (p.Ser1368Thr)
c.4085G>C (p.Ser1362Thr)
c.4046G>C (p.Ser1349Thr)
c.4007G>C (p.Ser1336Thr)
c.3731G>C (p.Ser1244Thr)
c.3692G>C (p.Ser1231Thr)
c.4082G>C (p.Ser1361Thr)
c.3989G>C (p.Ser1330Thr)
c.3464G>C (p.Ser1155Thr)
c.3779G>C (p.Ser1260Thr)
n.8351G>C
3g.9475730G=CA1344742760SETD5n.2923G=
c.4064G= (p.Ser1355=)
n.4957G=
n.2348G=
n.6210G=
c.3968G= (p.Ser1323=)
c.*4114G= (n.*4114G=)
c.*4037G= (n.*4037G=)
c.*4342G= (n.*4342G=)
c.*4073G= (n.*4073G=)
c.3674G= (p.Ser1225=)
c.2722+574G=
c.4025G= (p.Ser1342=)
c.3004G=
n.3309G=
n.4132G=
c.4142G= (p.Ser1381=)
c.4121G= (p.Ser1374=)
c.4103G= (p.Ser1368=)
c.4085G= (p.Ser1362=)
c.4046G= (p.Ser1349=)
c.4007G= (p.Ser1336=)
c.3731G= (p.Ser1244=)
c.3692G= (p.Ser1231=)
c.4082G= (p.Ser1361=)
c.3989G= (p.Ser1330=)
c.3464G= (p.Ser1155=)
c.3779G= (p.Ser1260=)
n.8351G=
3g.9475730G>TCA351693244SETD5n.2923G>T
c.4064G>T (p.Ser1355Ile)
n.4957G>T
n.2348G>T
n.6210G>T
c.3968G>T (p.Ser1323Ile)
c.*4114G>T (n.*4114G>T)
c.*4037G>T (n.*4037G>T)
c.*4342G>T (n.*4342G>T)
c.*4073G>T (n.*4073G>T)
c.3674G>T (p.Ser1225Ile)
c.2722+574G>T
c.4025G>T (p.Ser1342Ile)
c.3004G>T
n.3309G>T
n.4132G>T
c.4142G>T (p.Ser1381Ile)
c.4121G>T (p.Ser1374Ile)
c.4103G>T (p.Ser1368Ile)
c.4085G>T (p.Ser1362Ile)
c.4046G>T (p.Ser1349Ile)
c.4007G>T (p.Ser1336Ile)
c.3731G>T (p.Ser1244Ile)
c.3692G>T (p.Ser1231Ile)
c.4082G>T (p.Ser1361Ile)
c.3989G>T (p.Ser1330Ile)
c.3464G>T (p.Ser1155Ile)
c.3779G>T (p.Ser1260Ile)
n.8351G>T
3g.9475731C>ACA351693253SETD5n.2924C>A
c.4065C>A (p.Ser1355Arg)
n.4958C>A
n.2349C>A
n.6211C>A
c.3969C>A (p.Ser1323Arg)
c.*4115C>A (n.*4115C>A)
c.*4038C>A (n.*4038C>A)
c.*4343C>A (n.*4343C>A)
c.*4074C>A (n.*4074C>A)
c.3675C>A (p.Ser1225Arg)
c.2722+575C>A
c.4026C>A (p.Ser1342Arg)
c.3005C>A
n.3310C>A
n.4133C>A
c.4143C>A (p.Ser1381Arg)
c.4122C>A (p.Ser1374Arg)
c.4104C>A (p.Ser1368Arg)
c.4086C>A (p.Ser1362Arg)
c.4047C>A (p.Ser1349Arg)
c.4008C>A (p.Ser1336Arg)
c.3732C>A (p.Ser1244Arg)
c.3693C>A (p.Ser1231Arg)
c.4083C>A (p.Ser1361Arg)
c.3990C>A (p.Ser1330Arg)
c.3465C>A (p.Ser1155Arg)
c.3780C>A (p.Ser1260Arg)
n.8352C>A
3g.9475731C=CA1344742763SETD5n.2924C=
c.4065C= (p.Ser1355=)
n.4958C=
n.2349C=
n.6211C=
c.3969C= (p.Ser1323=)
c.*4115C= (n.*4115C=)
c.*4038C= (n.*4038C=)
c.*4343C= (n.*4343C=)
c.*4074C= (n.*4074C=)
c.3675C= (p.Ser1225=)
c.2722+575C=
c.4026C= (p.Ser1342=)
c.3005C=
n.3310C=
n.4133C=
c.4143C= (p.Ser1381=)
c.4122C= (p.Ser1374=)
c.4104C= (p.Ser1368=)
c.4086C= (p.Ser1362=)
c.4047C= (p.Ser1349=)
c.4008C= (p.Ser1336=)
c.3732C= (p.Ser1244=)
c.3693C= (p.Ser1231=)
c.4083C= (p.Ser1361=)
c.3990C= (p.Ser1330=)
c.3465C= (p.Ser1155=)
c.3780C= (p.Ser1260=)
n.8352C=
3g.9475731C>GCA351693260SETD5n.2924C>G
c.4065C>G (p.Ser1355Arg)
n.4958C>G
n.2349C>G
n.6211C>G
c.3969C>G (p.Ser1323Arg)
c.*4115C>G (n.*4115C>G)
c.*4038C>G (n.*4038C>G)
c.*4343C>G (n.*4343C>G)
c.*4074C>G (n.*4074C>G)
c.3675C>G (p.Ser1225Arg)
c.2722+575C>G
c.4026C>G (p.Ser1342Arg)
c.3005C>G
n.3310C>G
n.4133C>G
c.4143C>G (p.Ser1381Arg)
c.4122C>G (p.Ser1374Arg)
c.4104C>G (p.Ser1368Arg)
c.4086C>G (p.Ser1362Arg)
c.4047C>G (p.Ser1349Arg)
c.4008C>G (p.Ser1336Arg)
c.3732C>G (p.Ser1244Arg)
c.3693C>G (p.Ser1231Arg)
c.4083C>G (p.Ser1361Arg)
c.3990C>G (p.Ser1330Arg)
c.3465C>G (p.Ser1155Arg)
c.3780C>G (p.Ser1260Arg)
n.8352C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.9475731C>TCA432528402SETD5n.2924C>T
c.4065C>T (p.Ser1355=)
n.4958C>T
n.2349C>T
n.6211C>T
c.3969C>T (p.Ser1323=)
c.*4115C>T (n.*4115C>T)
c.*4038C>T (n.*4038C>T)
c.*4343C>T (n.*4343C>T)
c.*4074C>T (n.*4074C>T)
c.3675C>T (p.Ser1225=)
c.2722+575C>T
c.4026C>T (p.Ser1342=)
c.3005C>T
n.3310C>T
n.4133C>T
c.4143C>T (p.Ser1381=)
c.4122C>T (p.Ser1374=)
c.4104C>T (p.Ser1368=)
c.4086C>T (p.Ser1362=)
c.4047C>T (p.Ser1349=)
c.4008C>T (p.Ser1336=)
c.3732C>T (p.Ser1244=)
c.3693C>T (p.Ser1231=)
c.4083C>T (p.Ser1361=)
c.3990C>T (p.Ser1330=)
c.3465C>T (p.Ser1155=)
c.3780C>T (p.Ser1260=)
n.8352C>T
3g.9475732delCA2739278340SETD5n.2925del
c.4066del (p.Gln1356SerfsTer?)
n.4959del
n.2350del
n.6212del
c.3970del (p.Gln1324SerfsTer?)
c.*4116del (n.*4116del)
c.*4039del (n.*4039del)
c.*4344del (n.*4344del)
c.*4075del (n.*4075del)
c.3676del (p.Gln1226SerfsTer?)
c.2722+576del
c.4027del (p.Gln1343SerfsTer?)
c.3006del
n.3311del
n.4134del
c.4144del (p.Gln1382SerfsTer?)
c.4123del (p.Gln1375SerfsTer?)
c.4105del (p.Gln1369SerfsTer?)
c.4087del (p.Gln1363SerfsTer?)
c.4048del (p.Gln1350SerfsTer?)
c.4009del (p.Gln1337SerfsTer?)
c.3733del (p.Gln1245SerfsTer?)
c.3694del (p.Gln1232SerfsTer?)
c.4084del (p.Gln1362SerfsTer?)
c.3991del (p.Gln1331SerfsTer?)
c.3466del (p.Gln1156SerfsTer?)
c.3781del (p.Gln1261SerfsTer?)
n.8353del
 ClinVar
3g.9475732C>ACA351693270SETD5n.2925C>A
c.4066C>A (p.Gln1356Lys)
n.4959C>A
n.2350C>A
n.6212C>A
c.3970C>A (p.Gln1324Lys)
c.*4116C>A (n.*4116C>A)
c.*4039C>A (n.*4039C>A)
c.*4344C>A (n.*4344C>A)
c.*4075C>A (n.*4075C>A)
c.3676C>A (p.Gln1226Lys)
c.2722+576C>A
c.4027C>A (p.Gln1343Lys)
c.3006C>A
n.3311C>A
n.4134C>A
c.4144C>A (p.Gln1382Lys)
c.4123C>A (p.Gln1375Lys)
c.4105C>A (p.Gln1369Lys)
c.4087C>A (p.Gln1363Lys)
c.4048C>A (p.Gln1350Lys)
c.4009C>A (p.Gln1337Lys)
c.3733C>A (p.Gln1245Lys)
c.3694C>A (p.Gln1232Lys)
c.4084C>A (p.Gln1362Lys)
c.3991C>A (p.Gln1331Lys)
c.3466C>A (p.Gln1156Lys)
c.3781C>A (p.Gln1261Lys)
n.8353C>A
3g.9475732C>GCA351693274SETD5n.2925C>G
c.4066C>G (p.Gln1356Glu)
n.4959C>G
n.2350C>G
n.6212C>G
c.3970C>G (p.Gln1324Glu)
c.*4116C>G (n.*4116C>G)
c.*4039C>G (n.*4039C>G)
c.*4344C>G (n.*4344C>G)
c.*4075C>G (n.*4075C>G)
c.3676C>G (p.Gln1226Glu)
c.2722+576C>G
c.4027C>G (p.Gln1343Glu)
c.3006C>G
n.3311C>G
n.4134C>G
c.4144C>G (p.Gln1382Glu)
c.4123C>G (p.Gln1375Glu)
c.4105C>G (p.Gln1369Glu)
c.4087C>G (p.Gln1363Glu)
c.4048C>G (p.Gln1350Glu)
c.4009C>G (p.Gln1337Glu)
c.3733C>G (p.Gln1245Glu)
c.3694C>G (p.Gln1232Glu)
c.4084C>G (p.Gln1362Glu)
c.3991C>G (p.Gln1331Glu)
c.3466C>G (p.Gln1156Glu)
c.3781C>G (p.Gln1261Glu)
n.8353C>G
3g.9475732C>TCA351693279SETD5n.2925C>T
c.4066C>T (p.Gln1356Ter)
n.4959C>T
n.2350C>T
n.6212C>T
c.3970C>T (p.Gln1324Ter)
c.*4116C>T (n.*4116C>T)
c.*4039C>T (n.*4039C>T)
c.*4344C>T (n.*4344C>T)
c.*4075C>T (n.*4075C>T)
c.3676C>T (p.Gln1226Ter)
c.2722+576C>T
c.4027C>T (p.Gln1343Ter)
c.3006C>T
n.3311C>T
n.4134C>T
c.4144C>T (p.Gln1382Ter)
c.4123C>T (p.Gln1375Ter)
c.4105C>T (p.Gln1369Ter)
c.4087C>T (p.Gln1363Ter)
c.4048C>T (p.Gln1350Ter)
c.4009C>T (p.Gln1337Ter)
c.3733C>T (p.Gln1245Ter)
c.3694C>T (p.Gln1232Ter)
c.4084C>T (p.Gln1362Ter)
c.3991C>T (p.Gln1331Ter)
c.3466C>T (p.Gln1156Ter)
c.3781C>T (p.Gln1261Ter)
n.8353C>T
 gnomAD v4
3g.9475733A>CCA351693282SETD5n.2926A>C
c.4067A>C (p.Gln1356Pro)
n.4960A>C
n.2351A>C
n.6213A>C
c.3971A>C (p.Gln1324Pro)
c.*4117A>C (n.*4117A>C)
c.*4040A>C (n.*4040A>C)
c.*4345A>C (n.*4345A>C)
c.*4076A>C (n.*4076A>C)
c.3677A>C (p.Gln1226Pro)
c.2722+577A>C
c.4028A>C (p.Gln1343Pro)
c.3007A>C
n.3312A>C
n.4135A>C
c.4145A>C (p.Gln1382Pro)
c.4124A>C (p.Gln1375Pro)
c.4106A>C (p.Gln1369Pro)
c.4088A>C (p.Gln1363Pro)
c.4049A>C (p.Gln1350Pro)
c.4010A>C (p.Gln1337Pro)
c.3734A>C (p.Gln1245Pro)
c.3695A>C (p.Gln1232Pro)
c.4085A>C (p.Gln1362Pro)
c.3992A>C (p.Gln1331Pro)
c.3467A>C (p.Gln1156Pro)
c.3782A>C (p.Gln1261Pro)
n.8354A>C
3g.9475733A>GCA351693283SETD5n.2926A>G
c.4067A>G (p.Gln1356Arg)
n.4960A>G
n.2351A>G
n.6213A>G
c.3971A>G (p.Gln1324Arg)
c.*4117A>G (n.*4117A>G)
c.*4040A>G (n.*4040A>G)
c.*4345A>G (n.*4345A>G)
c.*4076A>G (n.*4076A>G)
c.3677A>G (p.Gln1226Arg)
c.2722+577A>G
c.4028A>G (p.Gln1343Arg)
c.3007A>G
n.3312A>G
n.4135A>G
c.4145A>G (p.Gln1382Arg)
c.4124A>G (p.Gln1375Arg)
c.4106A>G (p.Gln1369Arg)
c.4088A>G (p.Gln1363Arg)
c.4049A>G (p.Gln1350Arg)
c.4010A>G (p.Gln1337Arg)
c.3734A>G (p.Gln1245Arg)
c.3695A>G (p.Gln1232Arg)
c.4085A>G (p.Gln1362Arg)
c.3992A>G (p.Gln1331Arg)
c.3467A>G (p.Gln1156Arg)
c.3782A>G (p.Gln1261Arg)
n.8354A>G
3g.9475733A>TCA351693287SETD5n.2926A>T
c.4067A>T (p.Gln1356Leu)
n.4960A>T
n.2351A>T
n.6213A>T
c.3971A>T (p.Gln1324Leu)
c.*4117A>T (n.*4117A>T)
c.*4040A>T (n.*4040A>T)
c.*4345A>T (n.*4345A>T)
c.*4076A>T (n.*4076A>T)
c.3677A>T (p.Gln1226Leu)
c.2722+577A>T
c.4028A>T (p.Gln1343Leu)
c.3007A>T
n.3312A>T
n.4135A>T
c.4145A>T (p.Gln1382Leu)
c.4124A>T (p.Gln1375Leu)
c.4106A>T (p.Gln1369Leu)
c.4088A>T (p.Gln1363Leu)
c.4049A>T (p.Gln1350Leu)
c.4010A>T (p.Gln1337Leu)
c.3734A>T (p.Gln1245Leu)
c.3695A>T (p.Gln1232Leu)
c.4085A>T (p.Gln1362Leu)
c.3992A>T (p.Gln1331Leu)
c.3467A>T (p.Gln1156Leu)
c.3782A>T (p.Gln1261Leu)
n.8354A>T
3g.9475734G>ACA432528407SETD5n.2927G>A
c.4068G>A (p.Gln1356=)
n.4961G>A
n.2352G>A
n.6214G>A
c.3972G>A (p.Gln1324=)
c.*4118G>A (n.*4118G>A)
c.*4041G>A (n.*4041G>A)
c.*4346G>A (n.*4346G>A)
c.*4077G>A (n.*4077G>A)
c.3678G>A (p.Gln1226=)
c.2722+578G>A
c.4029G>A (p.Gln1343=)
c.3008G>A
n.3313G>A
n.4136G>A
c.4146G>A (p.Gln1382=)
c.4125G>A (p.Gln1375=)
c.4107G>A (p.Gln1369=)
c.4089G>A (p.Gln1363=)
c.4050G>A (p.Gln1350=)
c.4011G>A (p.Gln1337=)
c.3735G>A (p.Gln1245=)
c.3696G>A (p.Gln1232=)
c.4086G>A (p.Gln1362=)
c.3993G>A (p.Gln1331=)
c.3468G>A (p.Gln1156=)
c.3783G>A (p.Gln1261=)
n.8355G>A
 dbSNP gnomAD v3 gnomAD v4
3g.9475734G>CCA351693294SETD5n.2927G>C
c.4068G>C (p.Gln1356His)
n.4961G>C
n.2352G>C
n.6214G>C
c.3972G>C (p.Gln1324His)
c.*4118G>C (n.*4118G>C)
c.*4041G>C (n.*4041G>C)
c.*4346G>C (n.*4346G>C)
c.*4077G>C (n.*4077G>C)
c.3678G>C (p.Gln1226His)
c.2722+578G>C
c.4029G>C (p.Gln1343His)
c.3008G>C
n.3313G>C
n.4136G>C
c.4146G>C (p.Gln1382His)
c.4125G>C (p.Gln1375His)
c.4107G>C (p.Gln1369His)
c.4089G>C (p.Gln1363His)
c.4050G>C (p.Gln1350His)
c.4011G>C (p.Gln1337His)
c.3735G>C (p.Gln1245His)
c.3696G>C (p.Gln1232His)
c.4086G>C (p.Gln1362His)
c.3993G>C (p.Gln1331His)
c.3468G>C (p.Gln1156His)
c.3783G>C (p.Gln1261His)
n.8355G>C
3g.9475734G=CA1344742766SETD5n.2927G=
c.4068G= (p.Gln1356=)
n.4961G=
n.2352G=
n.6214G=
c.3972G= (p.Gln1324=)
c.*4118G= (n.*4118G=)
c.*4041G= (n.*4041G=)
c.*4346G= (n.*4346G=)
c.*4077G= (n.*4077G=)
c.3678G= (p.Gln1226=)
c.2722+578G=
c.4029G= (p.Gln1343=)
c.3008G=
n.3313G=
n.4136G=
c.4146G= (p.Gln1382=)
c.4125G= (p.Gln1375=)
c.4107G= (p.Gln1369=)
c.4089G= (p.Gln1363=)
c.4050G= (p.Gln1350=)
c.4011G= (p.Gln1337=)
c.3735G= (p.Gln1245=)
c.3696G= (p.Gln1232=)
c.4086G= (p.Gln1362=)
c.3993G= (p.Gln1331=)
c.3468G= (p.Gln1156=)
c.3783G= (p.Gln1261=)
n.8355G=
3g.9475734G>TCA351693300SETD5n.2927G>T
c.4068G>T (p.Gln1356His)
n.4961G>T
n.2352G>T
n.6214G>T
c.3972G>T (p.Gln1324His)
c.*4118G>T (n.*4118G>T)
c.*4041G>T (n.*4041G>T)
c.*4346G>T (n.*4346G>T)
c.*4077G>T (n.*4077G>T)
c.3678G>T (p.Gln1226His)
c.2722+578G>T
c.4029G>T (p.Gln1343His)
c.3008G>T
n.3313G>T
n.4136G>T
c.4146G>T (p.Gln1382His)
c.4125G>T (p.Gln1375His)
c.4107G>T (p.Gln1369His)
c.4089G>T (p.Gln1363His)
c.4050G>T (p.Gln1350His)
c.4011G>T (p.Gln1337His)
c.3735G>T (p.Gln1245His)
c.3696G>T (p.Gln1232His)
c.4086G>T (p.Gln1362His)
c.3993G>T (p.Gln1331His)
c.3468G>T (p.Gln1156His)
c.3783G>T (p.Gln1261His)
n.8355G>T
3g.9475735C>ACA351693307SETD5n.2928C>A
c.4069C>A (p.Pro1357Thr)
n.4962C>A
n.2353C>A
n.6215C>A
c.3973C>A (p.Pro1325Thr)
c.*4119C>A (n.*4119C>A)
c.*4042C>A (n.*4042C>A)
c.*4347C>A (n.*4347C>A)
c.*4078C>A (n.*4078C>A)
c.3679C>A (p.Pro1227Thr)
c.2722+579C>A
c.4030C>A (p.Pro1344Thr)
c.3009C>A
n.3314C>A
n.4137C>A
c.4147C>A (p.Pro1383Thr)
c.4126C>A (p.Pro1376Thr)
c.4108C>A (p.Pro1370Thr)
c.4090C>A (p.Pro1364Thr)
c.4051C>A (p.Pro1351Thr)
c.4012C>A (p.Pro1338Thr)
c.3736C>A (p.Pro1246Thr)
c.3697C>A (p.Pro1233Thr)
c.4087C>A (p.Pro1363Thr)
c.3994C>A (p.Pro1332Thr)
c.3469C>A (p.Pro1157Thr)
c.3784C>A (p.Pro1262Thr)
n.8356C>A
3g.9475735C>GCA351693308SETD5n.2928C>G
c.4069C>G (p.Pro1357Ala)
n.4962C>G
n.2353C>G
n.6215C>G
c.3973C>G (p.Pro1325Ala)
c.*4119C>G (n.*4119C>G)
c.*4042C>G (n.*4042C>G)
c.*4347C>G (n.*4347C>G)
c.*4078C>G (n.*4078C>G)
c.3679C>G (p.Pro1227Ala)
c.2722+579C>G
c.4030C>G (p.Pro1344Ala)
c.3009C>G
n.3314C>G
n.4137C>G
c.4147C>G (p.Pro1383Ala)
c.4126C>G (p.Pro1376Ala)
c.4108C>G (p.Pro1370Ala)
c.4090C>G (p.Pro1364Ala)
c.4051C>G (p.Pro1351Ala)
c.4012C>G (p.Pro1338Ala)
c.3736C>G (p.Pro1246Ala)
c.3697C>G (p.Pro1233Ala)
c.4087C>G (p.Pro1363Ala)
c.3994C>G (p.Pro1332Ala)
c.3469C>G (p.Pro1157Ala)
c.3784C>G (p.Pro1262Ala)
n.8356C>G
3g.9475735C>TCA351693310SETD5n.2928C>T
c.4069C>T (p.Pro1357Ser)
n.4962C>T
n.2353C>T
n.6215C>T
c.3973C>T (p.Pro1325Ser)
c.*4119C>T (n.*4119C>T)
c.*4042C>T (n.*4042C>T)
c.*4347C>T (n.*4347C>T)
c.*4078C>T (n.*4078C>T)
c.3679C>T (p.Pro1227Ser)
c.2722+579C>T
c.4030C>T (p.Pro1344Ser)
c.3009C>T
n.3314C>T
n.4137C>T
c.4147C>T (p.Pro1383Ser)
c.4126C>T (p.Pro1376Ser)
c.4108C>T (p.Pro1370Ser)
c.4090C>T (p.Pro1364Ser)
c.4051C>T (p.Pro1351Ser)
c.4012C>T (p.Pro1338Ser)
c.3736C>T (p.Pro1246Ser)
c.3697C>T (p.Pro1233Ser)
c.4087C>T (p.Pro1363Ser)
c.3994C>T (p.Pro1332Ser)
c.3469C>T (p.Pro1157Ser)
c.3784C>T (p.Pro1262Ser)
n.8356C>T
3g.9475736C>ACA351693320SETD5n.2929C>A
c.4070C>A (p.Pro1357Gln)
n.4963C>A
n.2354C>A
n.6216C>A
c.3974C>A (p.Pro1325Gln)
c.*4120C>A (n.*4120C>A)
c.*4043C>A (n.*4043C>A)
c.*4348C>A (n.*4348C>A)
c.*4079C>A (n.*4079C>A)
c.3680C>A (p.Pro1227Gln)
c.2722+580C>A
c.4031C>A (p.Pro1344Gln)
c.3010C>A
n.3315C>A
n.4138C>A
c.4148C>A (p.Pro1383Gln)
c.4127C>A (p.Pro1376Gln)
c.4109C>A (p.Pro1370Gln)
c.4091C>A (p.Pro1364Gln)
c.4052C>A (p.Pro1351Gln)
c.4013C>A (p.Pro1338Gln)
c.3737C>A (p.Pro1246Gln)
c.3698C>A (p.Pro1233Gln)
c.4088C>A (p.Pro1363Gln)
c.3995C>A (p.Pro1332Gln)
c.3470C>A (p.Pro1157Gln)
c.3785C>A (p.Pro1262Gln)
n.8357C>A
3g.9475736C>GCA351693319SETD5n.2929C>G
c.4070C>G (p.Pro1357Arg)
n.4963C>G
n.2354C>G
n.6216C>G
c.3974C>G (p.Pro1325Arg)
c.*4120C>G (n.*4120C>G)
c.*4043C>G (n.*4043C>G)
c.*4348C>G (n.*4348C>G)
c.*4079C>G (n.*4079C>G)
c.3680C>G (p.Pro1227Arg)
c.2722+580C>G
c.4031C>G (p.Pro1344Arg)
c.3010C>G
n.3315C>G
n.4138C>G
c.4148C>G (p.Pro1383Arg)
c.4127C>G (p.Pro1376Arg)
c.4109C>G (p.Pro1370Arg)
c.4091C>G (p.Pro1364Arg)
c.4052C>G (p.Pro1351Arg)
c.4013C>G (p.Pro1338Arg)
c.3737C>G (p.Pro1246Arg)
c.3698C>G (p.Pro1233Arg)
c.4088C>G (p.Pro1363Arg)
c.3995C>G (p.Pro1332Arg)
c.3470C>G (p.Pro1157Arg)
c.3785C>G (p.Pro1262Arg)
n.8357C>G
 dbSNP
3g.9475736C>TCA351693315SETD5n.2929C>T
c.4070C>T (p.Pro1357Leu)
n.4963C>T
n.2354C>T
n.6216C>T
c.3974C>T (p.Pro1325Leu)
c.*4120C>T (n.*4120C>T)
c.*4043C>T (n.*4043C>T)
c.*4348C>T (n.*4348C>T)
c.*4079C>T (n.*4079C>T)
c.3680C>T (p.Pro1227Leu)
c.2722+580C>T
c.4031C>T (p.Pro1344Leu)
c.3010C>T
n.3315C>T
n.4138C>T
c.4148C>T (p.Pro1383Leu)
c.4127C>T (p.Pro1376Leu)
c.4109C>T (p.Pro1370Leu)
c.4091C>T (p.Pro1364Leu)
c.4052C>T (p.Pro1351Leu)
c.4013C>T (p.Pro1338Leu)
c.3737C>T (p.Pro1246Leu)
c.3698C>T (p.Pro1233Leu)
c.4088C>T (p.Pro1363Leu)
c.3995C>T (p.Pro1332Leu)
c.3470C>T (p.Pro1157Leu)
c.3785C>T (p.Pro1262Leu)
n.8357C>T
3g.9475737A=CA1344742768SETD5n.2930A=
c.4071A= (p.Pro1357=)
n.4964A=
n.2355A=
n.6217A=
c.3975A= (p.Pro1325=)
c.*4121A= (n.*4121A=)
c.*4044A= (n.*4044A=)
c.*4349A= (n.*4349A=)
c.*4080A= (n.*4080A=)
c.3681A= (p.Pro1227=)
c.2722+581A=
c.4032A= (p.Pro1344=)
c.3011A=
n.3316A=
n.4139A=
c.4149A= (p.Pro1383=)
c.4128A= (p.Pro1376=)
c.4110A= (p.Pro1370=)
c.4092A= (p.Pro1364=)
c.4053A= (p.Pro1351=)
c.4014A= (p.Pro1338=)
c.3738A= (p.Pro1246=)
c.3699A= (p.Pro1233=)
c.4089A= (p.Pro1363=)
c.3996A= (p.Pro1332=)
c.3471A= (p.Pro1157=)
c.3786A= (p.Pro1262=)
n.8358A=
3g.9475737A>CCA432528414SETD5n.2930A>C
c.4071A>C (p.Pro1357=)
n.4964A>C
n.2355A>C
n.6217A>C
c.3975A>C (p.Pro1325=)
c.*4121A>C (n.*4121A>C)
c.*4044A>C (n.*4044A>C)
c.*4349A>C (n.*4349A>C)
c.*4080A>C (n.*4080A>C)
c.3681A>C (p.Pro1227=)
c.2722+581A>C
c.4032A>C (p.Pro1344=)
c.3011A>C
n.3316A>C
n.4139A>C
c.4149A>C (p.Pro1383=)
c.4128A>C (p.Pro1376=)
c.4110A>C (p.Pro1370=)
c.4092A>C (p.Pro1364=)
c.4053A>C (p.Pro1351=)
c.4014A>C (p.Pro1338=)
c.3738A>C (p.Pro1246=)
c.3699A>C (p.Pro1233=)
c.4089A>C (p.Pro1363=)
c.3996A>C (p.Pro1332=)
c.3471A>C (p.Pro1157=)
c.3786A>C (p.Pro1262=)
n.8358A>C
3g.9475737A>GCA432528415SETD5n.2930A>G
c.4071A>G (p.Pro1357=)
n.4964A>G
n.2355A>G
n.6217A>G
c.3975A>G (p.Pro1325=)
c.*4121A>G (n.*4121A>G)
c.*4044A>G (n.*4044A>G)
c.*4349A>G (n.*4349A>G)
c.*4080A>G (n.*4080A>G)
c.3681A>G (p.Pro1227=)
c.2722+581A>G
c.4032A>G (p.Pro1344=)
c.3011A>G
n.3316A>G
n.4139A>G
c.4149A>G (p.Pro1383=)
c.4128A>G (p.Pro1376=)
c.4110A>G (p.Pro1370=)
c.4092A>G (p.Pro1364=)
c.4053A>G (p.Pro1351=)
c.4014A>G (p.Pro1338=)
c.3738A>G (p.Pro1246=)
c.3699A>G (p.Pro1233=)
c.4089A>G (p.Pro1363=)
c.3996A>G (p.Pro1332=)
c.3471A>G (p.Pro1157=)
c.3786A>G (p.Pro1262=)
n.8358A>G
 dbSNP gnomAD v3 gnomAD v4
3g.9475737A>TCA432528416SETD5n.2930A>T
c.4071A>T (p.Pro1357=)
n.4964A>T
n.2355A>T
n.6217A>T
c.3975A>T (p.Pro1325=)
c.*4121A>T (n.*4121A>T)
c.*4044A>T (n.*4044A>T)
c.*4349A>T (n.*4349A>T)
c.*4080A>T (n.*4080A>T)
c.3681A>T (p.Pro1227=)
c.2722+581A>T
c.4032A>T (p.Pro1344=)
c.3011A>T
n.3316A>T
n.4139A>T
c.4149A>T (p.Pro1383=)
c.4128A>T (p.Pro1376=)
c.4110A>T (p.Pro1370=)
c.4092A>T (p.Pro1364=)
c.4053A>T (p.Pro1351=)
c.4014A>T (p.Pro1338=)
c.3738A>T (p.Pro1246=)
c.3699A>T (p.Pro1233=)
c.4089A>T (p.Pro1363=)
c.3996A>T (p.Pro1332=)
c.3471A>T (p.Pro1157=)
c.3786A>T (p.Pro1262=)
n.8358A>T
3g.9475738C>ACA351693321SETD5n.2931C>A
c.4072C>A (p.His1358Asn)
n.4965C>A
n.2356C>A
n.6218C>A
c.3976C>A (p.His1326Asn)
c.*4122C>A (n.*4122C>A)
c.*4045C>A (n.*4045C>A)
c.*4350C>A (n.*4350C>A)
c.*4081C>A (n.*4081C>A)
c.3682C>A (p.His1228Asn)
c.2722+582C>A
c.4033C>A (p.His1345Asn)
c.3012C>A
n.3317C>A
n.4140C>A
c.4150C>A (p.His1384Asn)
c.4129C>A (p.His1377Asn)
c.4111C>A (p.His1371Asn)
c.4093C>A (p.His1365Asn)
c.4054C>A (p.His1352Asn)
c.4015C>A (p.His1339Asn)
c.3739C>A (p.His1247Asn)
c.3700C>A (p.His1234Asn)
c.4090C>A (p.His1364Asn)
c.3997C>A (p.His1333Asn)
c.3472C>A (p.His1158Asn)
c.3787C>A (p.His1263Asn)
n.8359C>A
3g.9475738C=CA1344742770SETD5n.2931C=
c.4072C= (p.His1358=)
n.4965C=
n.2356C=
n.6218C=
c.3976C= (p.His1326=)
c.*4122C= (n.*4122C=)
c.*4045C= (n.*4045C=)
c.*4350C= (n.*4350C=)
c.*4081C= (n.*4081C=)
c.3682C= (p.His1228=)
c.2722+582C=
c.4033C= (p.His1345=)
c.3012C=
n.3317C=
n.4140C=
c.4150C= (p.His1384=)
c.4129C= (p.His1377=)
c.4111C= (p.His1371=)
c.4093C= (p.His1365=)
c.4054C= (p.His1352=)
c.4015C= (p.His1339=)
c.3739C= (p.His1247=)
c.3700C= (p.His1234=)
c.4090C= (p.His1364=)
c.3997C= (p.His1333=)
c.3472C= (p.His1158=)
c.3787C= (p.His1263=)
n.8359C=
3g.9475738C>GCA351693335SETD5n.2931C>G
c.4072C>G (p.His1358Asp)
n.4965C>G
n.2356C>G
n.6218C>G
c.3976C>G (p.His1326Asp)
c.*4122C>G (n.*4122C>G)
c.*4045C>G (n.*4045C>G)
c.*4350C>G (n.*4350C>G)
c.*4081C>G (n.*4081C>G)
c.3682C>G (p.His1228Asp)
c.2722+582C>G
c.4033C>G (p.His1345Asp)
c.3012C>G
n.3317C>G
n.4140C>G
c.4150C>G (p.His1384Asp)
c.4129C>G (p.His1377Asp)
c.4111C>G (p.His1371Asp)
c.4093C>G (p.His1365Asp)
c.4054C>G (p.His1352Asp)
c.4015C>G (p.His1339Asp)
c.3739C>G (p.His1247Asp)
c.3700C>G (p.His1234Asp)
c.4090C>G (p.His1364Asp)
c.3997C>G (p.His1333Asp)
c.3472C>G (p.His1158Asp)
c.3787C>G (p.His1263Asp)
n.8359C>G
3g.9475738C>TCA69951986SETD5n.2931C>T
c.4072C>T (p.His1358Tyr)
n.4965C>T
n.2356C>T
n.6218C>T
c.3976C>T (p.His1326Tyr)
c.*4122C>T (n.*4122C>T)
c.*4045C>T (n.*4045C>T)
c.*4350C>T (n.*4350C>T)
c.*4081C>T (n.*4081C>T)
c.3682C>T (p.His1228Tyr)
c.2722+582C>T
c.4033C>T (p.His1345Tyr)
c.3012C>T
n.3317C>T
n.4140C>T
c.4150C>T (p.His1384Tyr)
c.4129C>T (p.His1377Tyr)
c.4111C>T (p.His1371Tyr)
c.4093C>T (p.His1365Tyr)
c.4054C>T (p.His1352Tyr)
c.4015C>T (p.His1339Tyr)
c.3739C>T (p.His1247Tyr)
c.3700C>T (p.His1234Tyr)
c.4090C>T (p.His1364Tyr)
c.3997C>T (p.His1333Tyr)
c.3472C>T (p.His1158Tyr)
c.3787C>T (p.His1263Tyr)
n.8359C>T
 dbSNP gnomAD v3 gnomAD v4
3g.9475739A=CA1344742776SETD5n.2932A=
c.4073A= (p.His1358=)
n.4966A=
n.2357A=
n.6219A=
c.3977A= (p.His1326=)
c.*4123A= (n.*4123A=)
c.*4046A= (n.*4046A=)
c.*4351A= (n.*4351A=)
c.*4082A= (n.*4082A=)
c.3683A= (p.His1228=)
c.2722+583A=
c.4034A= (p.His1345=)
c.3013A=
n.3318A=
n.4141A=
c.4151A= (p.His1384=)
c.4130A= (p.His1377=)
c.4112A= (p.His1371=)
c.4094A= (p.His1365=)
c.4055A= (p.His1352=)
c.4016A= (p.His1339=)
c.3740A= (p.His1247=)
c.3701A= (p.His1234=)
c.4091A= (p.His1364=)
c.3998A= (p.His1333=)
c.3473A= (p.His1158=)
c.3788A= (p.His1263=)
n.8360A=
3g.9475739A>CCA351693356SETD5n.2932A>C
c.4073A>C (p.His1358Pro)
n.4966A>C
n.2357A>C
n.6219A>C
c.3977A>C (p.His1326Pro)
c.*4123A>C (n.*4123A>C)
c.*4046A>C (n.*4046A>C)
c.*4351A>C (n.*4351A>C)
c.*4082A>C (n.*4082A>C)
c.3683A>C (p.His1228Pro)
c.2722+583A>C
c.4034A>C (p.His1345Pro)
c.3013A>C
n.3318A>C
n.4141A>C
c.4151A>C (p.His1384Pro)
c.4130A>C (p.His1377Pro)
c.4112A>C (p.His1371Pro)
c.4094A>C (p.His1365Pro)
c.4055A>C (p.His1352Pro)
c.4016A>C (p.His1339Pro)
c.3740A>C (p.His1247Pro)
c.3701A>C (p.His1234Pro)
c.4091A>C (p.His1364Pro)
c.3998A>C (p.His1333Pro)
c.3473A>C (p.His1158Pro)
c.3788A>C (p.His1263Pro)
n.8360A>C
3g.9475739A>GCA2239843SETD5n.2932A>G
c.4073A>G (p.His1358Arg)
n.4966A>G
n.2357A>G
n.6219A>G
c.3977A>G (p.His1326Arg)
c.*4123A>G (n.*4123A>G)
c.*4046A>G (n.*4046A>G)
c.*4351A>G (n.*4351A>G)
c.*4082A>G (n.*4082A>G)
c.3683A>G (p.His1228Arg)
c.2722+583A>G
c.4034A>G (p.His1345Arg)
c.3013A>G
n.3318A>G
n.4141A>G
c.4151A>G (p.His1384Arg)
c.4130A>G (p.His1377Arg)
c.4112A>G (p.His1371Arg)
c.4094A>G (p.His1365Arg)
c.4055A>G (p.His1352Arg)
c.4016A>G (p.His1339Arg)
c.3740A>G (p.His1247Arg)
c.3701A>G (p.His1234Arg)
c.4091A>G (p.His1364Arg)
c.3998A>G (p.His1333Arg)
c.3473A>G (p.His1158Arg)
c.3788A>G (p.His1263Arg)
n.8360A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475739A>TCA351693378SETD5n.2932A>T
c.4073A>T (p.His1358Leu)
n.4966A>T
n.2357A>T
n.6219A>T
c.3977A>T (p.His1326Leu)
c.*4123A>T (n.*4123A>T)
c.*4046A>T (n.*4046A>T)
c.*4351A>T (n.*4351A>T)
c.*4082A>T (n.*4082A>T)
c.3683A>T (p.His1228Leu)
c.2722+583A>T
c.4034A>T (p.His1345Leu)
c.3013A>T
n.3318A>T
n.4141A>T
c.4151A>T (p.His1384Leu)
c.4130A>T (p.His1377Leu)
c.4112A>T (p.His1371Leu)
c.4094A>T (p.His1365Leu)
c.4055A>T (p.His1352Leu)
c.4016A>T (p.His1339Leu)
c.3740A>T (p.His1247Leu)
c.3701A>T (p.His1234Leu)
c.4091A>T (p.His1364Leu)
c.3998A>T (p.His1333Leu)
c.3473A>T (p.His1158Leu)
c.3788A>T (p.His1263Leu)
n.8360A>T
3g.9475740T>ACA351693381SETD5n.2933T>A
c.4074T>A (p.His1358Gln)
n.4967T>A
n.2358T>A
n.6220T>A
c.3978T>A (p.His1326Gln)
c.*4124T>A (n.*4124T>A)
c.*4047T>A (n.*4047T>A)
c.*4352T>A (n.*4352T>A)
c.*4083T>A (n.*4083T>A)
c.3684T>A (p.His1228Gln)
c.2722+584T>A
c.4035T>A (p.His1345Gln)
c.3014T>A
n.3319T>A
n.4142T>A
c.4152T>A (p.His1384Gln)
c.4131T>A (p.His1377Gln)
c.4113T>A (p.His1371Gln)
c.4095T>A (p.His1365Gln)
c.4056T>A (p.His1352Gln)
c.4017T>A (p.His1339Gln)
c.3741T>A (p.His1247Gln)
c.3702T>A (p.His1234Gln)
c.4092T>A (p.His1364Gln)
c.3999T>A (p.His1333Gln)
c.3474T>A (p.His1158Gln)
c.3789T>A (p.His1263Gln)
n.8361T>A
3g.9475740T>CCA432528421SETD5n.2933T>C
c.4074T>C (p.His1358=)
n.4967T>C
n.2358T>C
n.6220T>C
c.3978T>C (p.His1326=)
c.*4124T>C (n.*4124T>C)
c.*4047T>C (n.*4047T>C)
c.*4352T>C (n.*4352T>C)
c.*4083T>C (n.*4083T>C)
c.3684T>C (p.His1228=)
c.2722+584T>C
c.4035T>C (p.His1345=)
c.3014T>C
n.3319T>C
n.4142T>C
c.4152T>C (p.His1384=)
c.4131T>C (p.His1377=)
c.4113T>C (p.His1371=)
c.4095T>C (p.His1365=)
c.4056T>C (p.His1352=)
c.4017T>C (p.His1339=)
c.3741T>C (p.His1247=)
c.3702T>C (p.His1234=)
c.4092T>C (p.His1364=)
c.3999T>C (p.His1333=)
c.3474T>C (p.His1158=)
c.3789T>C (p.His1263=)
n.8361T>C
3g.9475740T>GCA351693389SETD5n.2933T>G
c.4074T>G (p.His1358Gln)
n.4967T>G
n.2358T>G
n.6220T>G
c.3978T>G (p.His1326Gln)
c.*4124T>G (n.*4124T>G)
c.*4047T>G (n.*4047T>G)
c.*4352T>G (n.*4352T>G)
c.*4083T>G (n.*4083T>G)
c.3684T>G (p.His1228Gln)
c.2722+584T>G
c.4035T>G (p.His1345Gln)
c.3014T>G
n.3319T>G
n.4142T>G
c.4152T>G (p.His1384Gln)
c.4131T>G (p.His1377Gln)
c.4113T>G (p.His1371Gln)
c.4095T>G (p.His1365Gln)
c.4056T>G (p.His1352Gln)
c.4017T>G (p.His1339Gln)
c.3741T>G (p.His1247Gln)
c.3702T>G (p.His1234Gln)
c.4092T>G (p.His1364Gln)
c.3999T>G (p.His1333Gln)
c.3474T>G (p.His1158Gln)
c.3789T>G (p.His1263Gln)
n.8361T>G
3g.9475741T>ACA351693396SETD5n.2934T>A
c.4075T>A (p.Ser1359Thr)
n.4968T>A
n.2359T>A
n.6221T>A
c.3979T>A (p.Ser1327Thr)
c.*4125T>A (n.*4125T>A)
c.*4048T>A (n.*4048T>A)
c.*4353T>A (n.*4353T>A)
c.*4084T>A (n.*4084T>A)
c.3685T>A (p.Ser1229Thr)
c.2722+585T>A
c.4036T>A (p.Ser1346Thr)
c.3015T>A
n.3320T>A
n.4143T>A
c.4153T>A (p.Ser1385Thr)
c.4132T>A (p.Ser1378Thr)
c.4114T>A (p.Ser1372Thr)
c.4096T>A (p.Ser1366Thr)
c.4057T>A (p.Ser1353Thr)
c.4018T>A (p.Ser1340Thr)
c.3742T>A (p.Ser1248Thr)
c.3703T>A (p.Ser1235Thr)
c.4093T>A (p.Ser1365Thr)
c.4000T>A (p.Ser1334Thr)
c.3475T>A (p.Ser1159Thr)
c.3790T>A (p.Ser1264Thr)
n.8362T>A
3g.9475741T>CCA351693400SETD5n.2934T>C
c.4075T>C (p.Ser1359Pro)
n.4968T>C
n.2359T>C
n.6221T>C
c.3979T>C (p.Ser1327Pro)
c.*4125T>C (n.*4125T>C)
c.*4048T>C (n.*4048T>C)
c.*4353T>C (n.*4353T>C)
c.*4084T>C (n.*4084T>C)
c.3685T>C (p.Ser1229Pro)
c.2722+585T>C
c.4036T>C (p.Ser1346Pro)
c.3015T>C
n.3320T>C
n.4143T>C
c.4153T>C (p.Ser1385Pro)
c.4132T>C (p.Ser1378Pro)
c.4114T>C (p.Ser1372Pro)
c.4096T>C (p.Ser1366Pro)
c.4057T>C (p.Ser1353Pro)
c.4018T>C (p.Ser1340Pro)
c.3742T>C (p.Ser1248Pro)
c.3703T>C (p.Ser1235Pro)
c.4093T>C (p.Ser1365Pro)
c.4000T>C (p.Ser1334Pro)
c.3475T>C (p.Ser1159Pro)
c.3790T>C (p.Ser1264Pro)
n.8362T>C
3g.9475741T>GCA351693408SETD5n.2934T>G
c.4075T>G (p.Ser1359Ala)
n.4968T>G
n.2359T>G
n.6221T>G
c.3979T>G (p.Ser1327Ala)
c.*4125T>G (n.*4125T>G)
c.*4048T>G (n.*4048T>G)
c.*4353T>G (n.*4353T>G)
c.*4084T>G (n.*4084T>G)
c.3685T>G (p.Ser1229Ala)
c.2722+585T>G
c.4036T>G (p.Ser1346Ala)
c.3015T>G
n.3320T>G
n.4143T>G
c.4153T>G (p.Ser1385Ala)
c.4132T>G (p.Ser1378Ala)
c.4114T>G (p.Ser1372Ala)
c.4096T>G (p.Ser1366Ala)
c.4057T>G (p.Ser1353Ala)
c.4018T>G (p.Ser1340Ala)
c.3742T>G (p.Ser1248Ala)
c.3703T>G (p.Ser1235Ala)
c.4093T>G (p.Ser1365Ala)
c.4000T>G (p.Ser1334Ala)
c.3475T>G (p.Ser1159Ala)
c.3790T>G (p.Ser1264Ala)
n.8362T>G
3g.9475742C>ACA351693412SETD5n.2935C>A
c.4076C>A (p.Ser1359Tyr)
n.4969C>A
n.2360C>A
n.6222C>A
c.3980C>A (p.Ser1327Tyr)
c.*4126C>A (n.*4126C>A)
c.*4049C>A (n.*4049C>A)
c.*4354C>A (n.*4354C>A)
c.*4085C>A (n.*4085C>A)
c.3686C>A (p.Ser1229Tyr)
c.2722+586C>A
c.4037C>A (p.Ser1346Tyr)
c.3016C>A
n.3321C>A
n.4144C>A
c.4154C>A (p.Ser1385Tyr)
c.4133C>A (p.Ser1378Tyr)
c.4115C>A (p.Ser1372Tyr)
c.4097C>A (p.Ser1366Tyr)
c.4058C>A (p.Ser1353Tyr)
c.4019C>A (p.Ser1340Tyr)
c.3743C>A (p.Ser1248Tyr)
c.3704C>A (p.Ser1235Tyr)
c.4094C>A (p.Ser1365Tyr)
c.4001C>A (p.Ser1334Tyr)
c.3476C>A (p.Ser1159Tyr)
c.3791C>A (p.Ser1264Tyr)
n.8363C>A
3g.9475742C>GCA351693415SETD5n.2935C>G
c.4076C>G (p.Ser1359Cys)
n.4969C>G
n.2360C>G
n.6222C>G
c.3980C>G (p.Ser1327Cys)
c.*4126C>G (n.*4126C>G)
c.*4049C>G (n.*4049C>G)
c.*4354C>G (n.*4354C>G)
c.*4085C>G (n.*4085C>G)
c.3686C>G (p.Ser1229Cys)
c.2722+586C>G
c.4037C>G (p.Ser1346Cys)
c.3016C>G
n.3321C>G
n.4144C>G
c.4154C>G (p.Ser1385Cys)
c.4133C>G (p.Ser1378Cys)
c.4115C>G (p.Ser1372Cys)
c.4097C>G (p.Ser1366Cys)
c.4058C>G (p.Ser1353Cys)
c.4019C>G (p.Ser1340Cys)
c.3743C>G (p.Ser1248Cys)
c.3704C>G (p.Ser1235Cys)
c.4094C>G (p.Ser1365Cys)
c.4001C>G (p.Ser1334Cys)
c.3476C>G (p.Ser1159Cys)
c.3791C>G (p.Ser1264Cys)
n.8363C>G
 COSMIC COSMIC
3g.9475742C>TCA351693419SETD5n.2935C>T
c.4076C>T (p.Ser1359Phe)
n.4969C>T
n.2360C>T
n.6222C>T
c.3980C>T (p.Ser1327Phe)
c.*4126C>T (n.*4126C>T)
c.*4049C>T (n.*4049C>T)
c.*4354C>T (n.*4354C>T)
c.*4085C>T (n.*4085C>T)
c.3686C>T (p.Ser1229Phe)
c.2722+586C>T
c.4037C>T (p.Ser1346Phe)
c.3016C>T
n.3321C>T
n.4144C>T
c.4154C>T (p.Ser1385Phe)
c.4133C>T (p.Ser1378Phe)
c.4115C>T (p.Ser1372Phe)
c.4097C>T (p.Ser1366Phe)
c.4058C>T (p.Ser1353Phe)
c.4019C>T (p.Ser1340Phe)
c.3743C>T (p.Ser1248Phe)
c.3704C>T (p.Ser1235Phe)
c.4094C>T (p.Ser1365Phe)
c.4001C>T (p.Ser1334Phe)
c.3476C>T (p.Ser1159Phe)
c.3791C>T (p.Ser1264Phe)
n.8363C>T
 gnomAD v4
3g.9475743T>ACA432528429SETD5n.2936T>A
c.4077T>A (p.Ser1359=)
n.4970T>A
n.2361T>A
n.6223T>A
c.3981T>A (p.Ser1327=)
c.*4127T>A (n.*4127T>A)
c.*4050T>A (n.*4050T>A)
c.*4355T>A (n.*4355T>A)
c.*4086T>A (n.*4086T>A)
c.3687T>A (p.Ser1229=)
c.2722+587T>A
c.4038T>A (p.Ser1346=)
c.3017T>A
n.3322T>A
n.4145T>A
c.4155T>A (p.Ser1385=)
c.4134T>A (p.Ser1378=)
c.4116T>A (p.Ser1372=)
c.4098T>A (p.Ser1366=)
c.4059T>A (p.Ser1353=)
c.4020T>A (p.Ser1340=)
c.3744T>A (p.Ser1248=)
c.3705T>A (p.Ser1235=)
c.4095T>A (p.Ser1365=)
c.4002T>A (p.Ser1334=)
c.3477T>A (p.Ser1159=)
c.3792T>A (p.Ser1264=)
n.8364T>A
3g.9475743T>CCA432528428SETD5n.2936T>C
c.4077T>C (p.Ser1359=)
n.4970T>C
n.2361T>C
n.6223T>C
c.3981T>C (p.Ser1327=)
c.*4127T>C (n.*4127T>C)
c.*4050T>C (n.*4050T>C)
c.*4355T>C (n.*4355T>C)
c.*4086T>C (n.*4086T>C)
c.3687T>C (p.Ser1229=)
c.2722+587T>C
c.4038T>C (p.Ser1346=)
c.3017T>C
n.3322T>C
n.4145T>C
c.4155T>C (p.Ser1385=)
c.4134T>C (p.Ser1378=)
c.4116T>C (p.Ser1372=)
c.4098T>C (p.Ser1366=)
c.4059T>C (p.Ser1353=)
c.4020T>C (p.Ser1340=)
c.3744T>C (p.Ser1248=)
c.3705T>C (p.Ser1235=)
c.4095T>C (p.Ser1365=)
c.4002T>C (p.Ser1334=)
c.3477T>C (p.Ser1159=)
c.3792T>C (p.Ser1264=)
n.8364T>C
 COSMIC
3g.9475743T>GCA432528427SETD5n.2936T>G
c.4077T>G (p.Ser1359=)
n.4970T>G
n.2361T>G
n.6223T>G
c.3981T>G (p.Ser1327=)
c.*4127T>G (n.*4127T>G)
c.*4050T>G (n.*4050T>G)
c.*4355T>G (n.*4355T>G)
c.*4086T>G (n.*4086T>G)
c.3687T>G (p.Ser1229=)
c.2722+587T>G
c.4038T>G (p.Ser1346=)
c.3017T>G
n.3322T>G
n.4145T>G
c.4155T>G (p.Ser1385=)
c.4134T>G (p.Ser1378=)
c.4116T>G (p.Ser1372=)
c.4098T>G (p.Ser1366=)
c.4059T>G (p.Ser1353=)
c.4020T>G (p.Ser1340=)
c.3744T>G (p.Ser1248=)
c.3705T>G (p.Ser1235=)
c.4095T>G (p.Ser1365=)
c.4002T>G (p.Ser1334=)
c.3477T>G (p.Ser1159=)
c.3792T>G (p.Ser1264=)
n.8364T>G
3g.9475744G>ACA351693425SETD5n.2937G>A
c.4078G>A (p.Gly1360Arg)
n.4971G>A
n.2362G>A
n.6224G>A
c.3982G>A (p.Gly1328Arg)
c.*4128G>A (n.*4128G>A)
c.*4051G>A (n.*4051G>A)
c.*4356G>A (n.*4356G>A)
c.*4087G>A (n.*4087G>A)
c.3688G>A (p.Gly1230Arg)
c.2722+588G>A
c.4039G>A (p.Gly1347Arg)
c.3018G>A
n.3323G>A
n.4146G>A
c.4156G>A (p.Gly1386Arg)
c.4135G>A (p.Gly1379Arg)
c.4117G>A (p.Gly1373Arg)
c.4099G>A (p.Gly1367Arg)
c.4060G>A (p.Gly1354Arg)
c.4021G>A (p.Gly1341Arg)
c.3745G>A (p.Gly1249Arg)
c.3706G>A (p.Gly1236Arg)
c.4096G>A (p.Gly1366Arg)
c.4003G>A (p.Gly1335Arg)
c.3478G>A (p.Gly1160Arg)
c.3793G>A (p.Gly1265Arg)
n.8365G>A
3g.9475744G>CCA351693420SETD5n.2937G>C
c.4078G>C (p.Gly1360Arg)
n.4971G>C
n.2362G>C
n.6224G>C
c.3982G>C (p.Gly1328Arg)
c.*4128G>C (n.*4128G>C)
c.*4051G>C (n.*4051G>C)
c.*4356G>C (n.*4356G>C)
c.*4087G>C (n.*4087G>C)
c.3688G>C (p.Gly1230Arg)
c.2722+588G>C
c.4039G>C (p.Gly1347Arg)
c.3018G>C
n.3323G>C
n.4146G>C
c.4156G>C (p.Gly1386Arg)
c.4135G>C (p.Gly1379Arg)
c.4117G>C (p.Gly1373Arg)
c.4099G>C (p.Gly1367Arg)
c.4060G>C (p.Gly1354Arg)
c.4021G>C (p.Gly1341Arg)
c.3745G>C (p.Gly1249Arg)
c.3706G>C (p.Gly1236Arg)
c.4096G>C (p.Gly1366Arg)
c.4003G>C (p.Gly1335Arg)
c.3478G>C (p.Gly1160Arg)
c.3793G>C (p.Gly1265Arg)
n.8365G>C
 dbSNP gnomAD v3 gnomAD v4
3g.9475744G=CA1344742779SETD5n.2937G=
c.4078G= (p.Gly1360=)
n.4971G=
n.2362G=
n.6224G=
c.3982G= (p.Gly1328=)
c.*4128G= (n.*4128G=)
c.*4051G= (n.*4051G=)
c.*4356G= (n.*4356G=)
c.*4087G= (n.*4087G=)
c.3688G= (p.Gly1230=)
c.2722+588G=
c.4039G= (p.Gly1347=)
c.3018G=
n.3323G=
n.4146G=
c.4156G= (p.Gly1386=)
c.4135G= (p.Gly1379=)
c.4117G= (p.Gly1373=)
c.4099G= (p.Gly1367=)
c.4060G= (p.Gly1354=)
c.4021G= (p.Gly1341=)
c.3745G= (p.Gly1249=)
c.3706G= (p.Gly1236=)
c.4096G= (p.Gly1366=)
c.4003G= (p.Gly1335=)
c.3478G= (p.Gly1160=)
c.3793G= (p.Gly1265=)
n.8365G=
3g.9475744G>TCA351693421SETD5n.2937G>T
c.4078G>T (p.Gly1360Ter)
n.4971G>T
n.2362G>T
n.6224G>T
c.3982G>T (p.Gly1328Ter)
c.*4128G>T (n.*4128G>T)
c.*4051G>T (n.*4051G>T)
c.*4356G>T (n.*4356G>T)
c.*4087G>T (n.*4087G>T)
c.3688G>T (p.Gly1230Ter)
c.2722+588G>T
c.4039G>T (p.Gly1347Ter)
c.3018G>T
n.3323G>T
n.4146G>T
c.4156G>T (p.Gly1386Ter)
c.4135G>T (p.Gly1379Ter)
c.4117G>T (p.Gly1373Ter)
c.4099G>T (p.Gly1367Ter)
c.4060G>T (p.Gly1354Ter)
c.4021G>T (p.Gly1341Ter)
c.3745G>T (p.Gly1249Ter)
c.3706G>T (p.Gly1236Ter)
c.4096G>T (p.Gly1366Ter)
c.4003G>T (p.Gly1335Ter)
c.3478G>T (p.Gly1160Ter)
c.3793G>T (p.Gly1265Ter)
n.8365G>T
3g.9475745G>ACA351693433SETD5n.2938G>A
c.4079G>A (p.Gly1360Glu)
n.4972G>A
n.2363G>A
n.6225G>A
c.3983G>A (p.Gly1328Glu)
c.*4129G>A (n.*4129G>A)
c.*4052G>A (n.*4052G>A)
c.*4357G>A (n.*4357G>A)
c.*4088G>A (n.*4088G>A)
c.3689G>A (p.Gly1230Glu)
c.2722+589G>A
c.4040G>A (p.Gly1347Glu)
c.3019G>A
n.3324G>A
n.4147G>A
c.4157G>A (p.Gly1386Glu)
c.4136G>A (p.Gly1379Glu)
c.4118G>A (p.Gly1373Glu)
c.4100G>A (p.Gly1367Glu)
c.4061G>A (p.Gly1354Glu)
c.4022G>A (p.Gly1341Glu)
c.3746G>A (p.Gly1249Glu)
c.3707G>A (p.Gly1236Glu)
c.4097G>A (p.Gly1366Glu)
c.4004G>A (p.Gly1335Glu)
c.3479G>A (p.Gly1160Glu)
c.3794G>A (p.Gly1265Glu)
n.8366G>A
3g.9475745G>CCA351693435SETD5n.2938G>C
c.4079G>C (p.Gly1360Ala)
n.4972G>C
n.2363G>C
n.6225G>C
c.3983G>C (p.Gly1328Ala)
c.*4129G>C (n.*4129G>C)
c.*4052G>C (n.*4052G>C)
c.*4357G>C (n.*4357G>C)
c.*4088G>C (n.*4088G>C)
c.3689G>C (p.Gly1230Ala)
c.2722+589G>C
c.4040G>C (p.Gly1347Ala)
c.3019G>C
n.3324G>C
n.4147G>C
c.4157G>C (p.Gly1386Ala)
c.4136G>C (p.Gly1379Ala)
c.4118G>C (p.Gly1373Ala)
c.4100G>C (p.Gly1367Ala)
c.4061G>C (p.Gly1354Ala)
c.4022G>C (p.Gly1341Ala)
c.3746G>C (p.Gly1249Ala)
c.3707G>C (p.Gly1236Ala)
c.4097G>C (p.Gly1366Ala)
c.4004G>C (p.Gly1335Ala)
c.3479G>C (p.Gly1160Ala)
c.3794G>C (p.Gly1265Ala)
n.8366G>C
3g.9475745G>TCA351693437SETD5n.2938G>T
c.4079G>T (p.Gly1360Val)
n.4972G>T
n.2363G>T
n.6225G>T
c.3983G>T (p.Gly1328Val)
c.*4129G>T (n.*4129G>T)
c.*4052G>T (n.*4052G>T)
c.*4357G>T (n.*4357G>T)
c.*4088G>T (n.*4088G>T)
c.3689G>T (p.Gly1230Val)
c.2722+589G>T
c.4040G>T (p.Gly1347Val)
c.3019G>T
n.3324G>T
n.4147G>T
c.4157G>T (p.Gly1386Val)
c.4136G>T (p.Gly1379Val)
c.4118G>T (p.Gly1373Val)
c.4100G>T (p.Gly1367Val)
c.4061G>T (p.Gly1354Val)
c.4022G>T (p.Gly1341Val)
c.3746G>T (p.Gly1249Val)
c.3707G>T (p.Gly1236Val)
c.4097G>T (p.Gly1366Val)
c.4004G>T (p.Gly1335Val)
c.3479G>T (p.Gly1160Val)
c.3794G>T (p.Gly1265Val)
n.8366G>T
 gnomAD v4
3g.9475746A>CCA432528431SETD5n.2939A>C
c.4080A>C (p.Gly1360=)
n.4973A>C
n.2364A>C
n.6226A>C
c.3984A>C (p.Gly1328=)
c.*4130A>C (n.*4130A>C)
c.*4053A>C (n.*4053A>C)
c.*4358A>C (n.*4358A>C)
c.*4089A>C (n.*4089A>C)
c.3690A>C (p.Gly1230=)
c.2722+590A>C
c.4041A>C (p.Gly1347=)
c.3020A>C
n.3325A>C
n.4148A>C
c.4158A>C (p.Gly1386=)
c.4137A>C (p.Gly1379=)
c.4119A>C (p.Gly1373=)
c.4101A>C (p.Gly1367=)
c.4062A>C (p.Gly1354=)
c.4023A>C (p.Gly1341=)
c.3747A>C (p.Gly1249=)
c.3708A>C (p.Gly1236=)
c.4098A>C (p.Gly1366=)
c.4005A>C (p.Gly1335=)
c.3480A>C (p.Gly1160=)
c.3795A>C (p.Gly1265=)
n.8367A>C
3g.9475746A>GCA432528432SETD5n.2939A>G
c.4080A>G (p.Gly1360=)
n.4973A>G
n.2364A>G
n.6226A>G
c.3984A>G (p.Gly1328=)
c.*4130A>G (n.*4130A>G)
c.*4053A>G (n.*4053A>G)
c.*4358A>G (n.*4358A>G)
c.*4089A>G (n.*4089A>G)
c.3690A>G (p.Gly1230=)
c.2722+590A>G
c.4041A>G (p.Gly1347=)
c.3020A>G
n.3325A>G
n.4148A>G
c.4158A>G (p.Gly1386=)
c.4137A>G (p.Gly1379=)
c.4119A>G (p.Gly1373=)
c.4101A>G (p.Gly1367=)
c.4062A>G (p.Gly1354=)
c.4023A>G (p.Gly1341=)
c.3747A>G (p.Gly1249=)
c.3708A>G (p.Gly1236=)
c.4098A>G (p.Gly1366=)
c.4005A>G (p.Gly1335=)
c.3480A>G (p.Gly1160=)
c.3795A>G (p.Gly1265=)
n.8367A>G
3g.9475746A>TCA432528433SETD5n.2939A>T
c.4080A>T (p.Gly1360=)
n.4973A>T
n.2364A>T
n.6226A>T
c.3984A>T (p.Gly1328=)
c.*4130A>T (n.*4130A>T)
c.*4053A>T (n.*4053A>T)
c.*4358A>T (n.*4358A>T)
c.*4089A>T (n.*4089A>T)
c.3690A>T (p.Gly1230=)
c.2722+590A>T
c.4041A>T (p.Gly1347=)
c.3020A>T
n.3325A>T
n.4148A>T
c.4158A>T (p.Gly1386=)
c.4137A>T (p.Gly1379=)
c.4119A>T (p.Gly1373=)
c.4101A>T (p.Gly1367=)
c.4062A>T (p.Gly1354=)
c.4023A>T (p.Gly1341=)
c.3747A>T (p.Gly1249=)
c.3708A>T (p.Gly1236=)
c.4098A>T (p.Gly1366=)
c.4005A>T (p.Gly1335=)
c.3480A>T (p.Gly1160=)
c.3795A>T (p.Gly1265=)
n.8367A>T
3g.9475748delCA432528435SETD5n.2941del
c.4082del (p.Asn1361ThrfsTer?)
n.4975del
n.2366del
n.6228del
c.3986del (p.Asn1329ThrfsTer?)
c.*4132del (n.*4132del)
c.*4055del (n.*4055del)
c.*4360del (n.*4360del)
c.*4091del (n.*4091del)
c.3692del (p.Asn1231ThrfsTer?)
c.2722+592del
c.4043del (p.Asn1348ThrfsTer?)
c.3022del
n.3327del
n.4150del
c.4160del (p.Asn1387ThrfsTer?)
c.4139del (p.Asn1380ThrfsTer?)
c.4121del (p.Asn1374ThrfsTer?)
c.4103del (p.Asn1368ThrfsTer?)
c.4064del (p.Asn1355ThrfsTer?)
c.4025del (p.Asn1342ThrfsTer?)
c.3749del (p.Asn1250ThrfsTer?)
c.3710del (p.Asn1237ThrfsTer?)
c.4100del (p.Asn1367ThrfsTer?)
c.4007del (p.Asn1336ThrfsTer?)
c.3482del (p.Asn1161ThrfsTer?)
c.3797del (p.Asn1266ThrfsTer?)
n.8369del
 COSMIC COSMIC
3g.9475747A>CCA351693442SETD5n.2940A>C
c.4081A>C (p.Asn1361His)
n.4974A>C
n.2365A>C
n.6227A>C
c.3985A>C (p.Asn1329His)
c.*4131A>C (n.*4131A>C)
c.*4054A>C (n.*4054A>C)
c.*4359A>C (n.*4359A>C)
c.*4090A>C (n.*4090A>C)
c.3691A>C (p.Asn1231His)
c.2722+591A>C
c.4042A>C (p.Asn1348His)
c.3021A>C
n.3326A>C
n.4149A>C
c.4159A>C (p.Asn1387His)
c.4138A>C (p.Asn1380His)
c.4120A>C (p.Asn1374His)
c.4102A>C (p.Asn1368His)
c.4063A>C (p.Asn1355His)
c.4024A>C (p.Asn1342His)
c.3748A>C (p.Asn1250His)
c.3709A>C (p.Asn1237His)
c.4099A>C (p.Asn1367His)
c.4006A>C (p.Asn1336His)
c.3481A>C (p.Asn1161His)
c.3796A>C (p.Asn1266His)
n.8368A>C
3g.9475747A>GCA351693446SETD5n.2940A>G
c.4081A>G (p.Asn1361Asp)
n.4974A>G
n.2365A>G
n.6227A>G
c.3985A>G (p.Asn1329Asp)
c.*4131A>G (n.*4131A>G)
c.*4054A>G (n.*4054A>G)
c.*4359A>G (n.*4359A>G)
c.*4090A>G (n.*4090A>G)
c.3691A>G (p.Asn1231Asp)
c.2722+591A>G
c.4042A>G (p.Asn1348Asp)
c.3021A>G
n.3326A>G
n.4149A>G
c.4159A>G (p.Asn1387Asp)
c.4138A>G (p.Asn1380Asp)
c.4120A>G (p.Asn1374Asp)
c.4102A>G (p.Asn1368Asp)
c.4063A>G (p.Asn1355Asp)
c.4024A>G (p.Asn1342Asp)
c.3748A>G (p.Asn1250Asp)
c.3709A>G (p.Asn1237Asp)
c.4099A>G (p.Asn1367Asp)
c.4006A>G (p.Asn1336Asp)
c.3481A>G (p.Asn1161Asp)
c.3796A>G (p.Asn1266Asp)
n.8368A>G
3g.9475747A>TCA351693450SETD5n.2940A>T
c.4081A>T (p.Asn1361Tyr)
n.4974A>T
n.2365A>T
n.6227A>T
c.3985A>T (p.Asn1329Tyr)
c.*4131A>T (n.*4131A>T)
c.*4054A>T (n.*4054A>T)
c.*4359A>T (n.*4359A>T)
c.*4090A>T (n.*4090A>T)
c.3691A>T (p.Asn1231Tyr)
c.2722+591A>T
c.4042A>T (p.Asn1348Tyr)
c.3021A>T
n.3326A>T
n.4149A>T
c.4159A>T (p.Asn1387Tyr)
c.4138A>T (p.Asn1380Tyr)
c.4120A>T (p.Asn1374Tyr)
c.4102A>T (p.Asn1368Tyr)
c.4063A>T (p.Asn1355Tyr)
c.4024A>T (p.Asn1342Tyr)
c.3748A>T (p.Asn1250Tyr)
c.3709A>T (p.Asn1237Tyr)
c.4099A>T (p.Asn1367Tyr)
c.4006A>T (p.Asn1336Tyr)
c.3481A>T (p.Asn1161Tyr)
c.3796A>T (p.Asn1266Tyr)
n.8368A>T
3g.9475748A=CA1344742781SETD5n.2941A=
c.4082A= (p.Asn1361=)
n.4975A=
n.2366A=
n.6228A=
c.3986A= (p.Asn1329=)
c.*4132A= (n.*4132A=)
c.*4055A= (n.*4055A=)
c.*4360A= (n.*4360A=)
c.*4091A= (n.*4091A=)
c.3692A= (p.Asn1231=)
c.2722+592A=
c.4043A= (p.Asn1348=)
c.3022A=
n.3327A=
n.4150A=
c.4160A= (p.Asn1387=)
c.4139A= (p.Asn1380=)
c.4121A= (p.Asn1374=)
c.4103A= (p.Asn1368=)
c.4064A= (p.Asn1355=)
c.4025A= (p.Asn1342=)
c.3749A= (p.Asn1250=)
c.3710A= (p.Asn1237=)
c.4100A= (p.Asn1367=)
c.4007A= (p.Asn1336=)
c.3482A= (p.Asn1161=)
c.3797A= (p.Asn1266=)
n.8369A=
3g.9475748A>CCA351693454SETD5n.2941A>C
c.4082A>C (p.Asn1361Thr)
n.4975A>C
n.2366A>C
n.6228A>C
c.3986A>C (p.Asn1329Thr)
c.*4132A>C (n.*4132A>C)
c.*4055A>C (n.*4055A>C)
c.*4360A>C (n.*4360A>C)
c.*4091A>C (n.*4091A>C)
c.3692A>C (p.Asn1231Thr)
c.2722+592A>C
c.4043A>C (p.Asn1348Thr)
c.3022A>C
n.3327A>C
n.4150A>C
c.4160A>C (p.Asn1387Thr)
c.4139A>C (p.Asn1380Thr)
c.4121A>C (p.Asn1374Thr)
c.4103A>C (p.Asn1368Thr)
c.4064A>C (p.Asn1355Thr)
c.4025A>C (p.Asn1342Thr)
c.3749A>C (p.Asn1250Thr)
c.3710A>C (p.Asn1237Thr)
c.4100A>C (p.Asn1367Thr)
c.4007A>C (p.Asn1336Thr)
c.3482A>C (p.Asn1161Thr)
c.3797A>C (p.Asn1266Thr)
n.8369A>C
3g.9475748A>GCA69951990SETD5n.2941A>G
c.4082A>G (p.Asn1361Ser)
n.4975A>G
n.2366A>G
n.6228A>G
c.3986A>G (p.Asn1329Ser)
c.*4132A>G (n.*4132A>G)
c.*4055A>G (n.*4055A>G)
c.*4360A>G (n.*4360A>G)
c.*4091A>G (n.*4091A>G)
c.3692A>G (p.Asn1231Ser)
c.2722+592A>G
c.4043A>G (p.Asn1348Ser)
c.3022A>G
n.3327A>G
n.4150A>G
c.4160A>G (p.Asn1387Ser)
c.4139A>G (p.Asn1380Ser)
c.4121A>G (p.Asn1374Ser)
c.4103A>G (p.Asn1368Ser)
c.4064A>G (p.Asn1355Ser)
c.4025A>G (p.Asn1342Ser)
c.3749A>G (p.Asn1250Ser)
c.3710A>G (p.Asn1237Ser)
c.4100A>G (p.Asn1367Ser)
c.4007A>G (p.Asn1336Ser)
c.3482A>G (p.Asn1161Ser)
c.3797A>G (p.Asn1266Ser)
n.8369A>G
 ClinVar dbSNP gnomAD v4
3g.9475748A>TCA351693461SETD5n.2941A>T
c.4082A>T (p.Asn1361Ile)
n.4975A>T
n.2366A>T
n.6228A>T
c.3986A>T (p.Asn1329Ile)
c.*4132A>T (n.*4132A>T)
c.*4055A>T (n.*4055A>T)
c.*4360A>T (n.*4360A>T)
c.*4091A>T (n.*4091A>T)
c.3692A>T (p.Asn1231Ile)
c.2722+592A>T
c.4043A>T (p.Asn1348Ile)
c.3022A>T
n.3327A>T
n.4150A>T
c.4160A>T (p.Asn1387Ile)
c.4139A>T (p.Asn1380Ile)
c.4121A>T (p.Asn1374Ile)
c.4103A>T (p.Asn1368Ile)
c.4064A>T (p.Asn1355Ile)
c.4025A>T (p.Asn1342Ile)
c.3749A>T (p.Asn1250Ile)
c.3710A>T (p.Asn1237Ile)
c.4100A>T (p.Asn1367Ile)
c.4007A>T (p.Asn1336Ile)
c.3482A>T (p.Asn1161Ile)
c.3797A>T (p.Asn1266Ile)
n.8369A>T
3g.9475749C>ACA351693462SETD5n.2942C>A
c.4083C>A (p.Asn1361Lys)
n.4976C>A
n.2367C>A
n.6229C>A
c.3987C>A (p.Asn1329Lys)
c.*4133C>A (n.*4133C>A)
c.*4056C>A (n.*4056C>A)
c.*4361C>A (n.*4361C>A)
c.*4092C>A (n.*4092C>A)
c.3693C>A (p.Asn1231Lys)
c.2722+593C>A
c.4044C>A (p.Asn1348Lys)
c.3023C>A
n.3328C>A
n.4151C>A
c.4161C>A (p.Asn1387Lys)
c.4140C>A (p.Asn1380Lys)
c.4122C>A (p.Asn1374Lys)
c.4104C>A (p.Asn1368Lys)
c.4065C>A (p.Asn1355Lys)
c.4026C>A (p.Asn1342Lys)
c.3750C>A (p.Asn1250Lys)
c.3711C>A (p.Asn1237Lys)
c.4101C>A (p.Asn1367Lys)
c.4008C>A (p.Asn1336Lys)
c.3483C>A (p.Asn1161Lys)
c.3798C>A (p.Asn1266Lys)
n.8370C>A
3g.9475749C=CA1344742784SETD5n.2942C=
c.4083C= (p.Asn1361=)
n.4976C=
n.2367C=
n.6229C=
c.3987C= (p.Asn1329=)
c.*4133C= (n.*4133C=)
c.*4056C= (n.*4056C=)
c.*4361C= (n.*4361C=)
c.*4092C= (n.*4092C=)
c.3693C= (p.Asn1231=)
c.2722+593C=
c.4044C= (p.Asn1348=)
c.3023C=
n.3328C=
n.4151C=
c.4161C= (p.Asn1387=)
c.4140C= (p.Asn1380=)
c.4122C= (p.Asn1374=)
c.4104C= (p.Asn1368=)
c.4065C= (p.Asn1355=)
c.4026C= (p.Asn1342=)
c.3750C= (p.Asn1250=)
c.3711C= (p.Asn1237=)
c.4101C= (p.Asn1367=)
c.4008C= (p.Asn1336=)
c.3483C= (p.Asn1161=)
c.3798C= (p.Asn1266=)
n.8370C=
3g.9475749C>GCA351693464SETD5n.2942C>G
c.4083C>G (p.Asn1361Lys)
n.4976C>G
n.2367C>G
n.6229C>G
c.3987C>G (p.Asn1329Lys)
c.*4133C>G (n.*4133C>G)
c.*4056C>G (n.*4056C>G)
c.*4361C>G (n.*4361C>G)
c.*4092C>G (n.*4092C>G)
c.3693C>G (p.Asn1231Lys)
c.2722+593C>G
c.4044C>G (p.Asn1348Lys)
c.3023C>G
n.3328C>G
n.4151C>G
c.4161C>G (p.Asn1387Lys)
c.4140C>G (p.Asn1380Lys)
c.4122C>G (p.Asn1374Lys)
c.4104C>G (p.Asn1368Lys)
c.4065C>G (p.Asn1355Lys)
c.4026C>G (p.Asn1342Lys)
c.3750C>G (p.Asn1250Lys)
c.3711C>G (p.Asn1237Lys)
c.4101C>G (p.Asn1367Lys)
c.4008C>G (p.Asn1336Lys)
c.3483C>G (p.Asn1161Lys)
c.3798C>G (p.Asn1266Lys)
n.8370C>G
 dbSNP gnomAD v4
3g.9475749C>TCA432528441SETD5n.2942C>T
c.4083C>T (p.Asn1361=)
n.4976C>T
n.2367C>T
n.6229C>T
c.3987C>T (p.Asn1329=)
c.*4133C>T (n.*4133C>T)
c.*4056C>T (n.*4056C>T)
c.*4361C>T (n.*4361C>T)
c.*4092C>T (n.*4092C>T)
c.3693C>T (p.Asn1231=)
c.2722+593C>T
c.4044C>T (p.Asn1348=)
c.3023C>T
n.3328C>T
n.4151C>T
c.4161C>T (p.Asn1387=)
c.4140C>T (p.Asn1380=)
c.4122C>T (p.Asn1374=)
c.4104C>T (p.Asn1368=)
c.4065C>T (p.Asn1355=)
c.4026C>T (p.Asn1342=)
c.3750C>T (p.Asn1250=)
c.3711C>T (p.Asn1237=)
c.4101C>T (p.Asn1367=)
c.4008C>T (p.Asn1336=)
c.3483C>T (p.Asn1161=)
c.3798C>T (p.Asn1266=)
n.8370C>T
 dbSNP gnomAD v4
3g.9475750A=CA1344742787SETD5n.2943A=
c.4084A= (p.Ser1362=)
n.4977A=
n.2368A=
n.6230A=
c.3988A= (p.Ser1330=)
c.*4134A= (n.*4134A=)
c.*4057A= (n.*4057A=)
c.*4362A= (n.*4362A=)
c.*4093A= (n.*4093A=)
c.3694A= (p.Ser1232=)
c.2722+594A=
c.4045A= (p.Ser1349=)
c.3024A=
n.3329A=
n.4152A=
c.4162A= (p.Ser1388=)
c.4141A= (p.Ser1381=)
c.4123A= (p.Ser1375=)
c.4105A= (p.Ser1369=)
c.4066A= (p.Ser1356=)
c.4027A= (p.Ser1343=)
c.3751A= (p.Ser1251=)
c.3712A= (p.Ser1238=)
c.4102A= (p.Ser1368=)
c.4009A= (p.Ser1337=)
c.3484A= (p.Ser1162=)
c.3799A= (p.Ser1267=)
n.8371A=
3g.9475750A>CCA351693476SETD5n.2943A>C
c.4084A>C (p.Ser1362Arg)
n.4977A>C
n.2368A>C
n.6230A>C
c.3988A>C (p.Ser1330Arg)
c.*4134A>C (n.*4134A>C)
c.*4057A>C (n.*4057A>C)
c.*4362A>C (n.*4362A>C)
c.*4093A>C (n.*4093A>C)
c.3694A>C (p.Ser1232Arg)
c.2722+594A>C
c.4045A>C (p.Ser1349Arg)
c.3024A>C
n.3329A>C
n.4152A>C
c.4162A>C (p.Ser1388Arg)
c.4141A>C (p.Ser1381Arg)
c.4123A>C (p.Ser1375Arg)
c.4105A>C (p.Ser1369Arg)
c.4066A>C (p.Ser1356Arg)
c.4027A>C (p.Ser1343Arg)
c.3751A>C (p.Ser1251Arg)
c.3712A>C (p.Ser1238Arg)
c.4102A>C (p.Ser1368Arg)
c.4009A>C (p.Ser1337Arg)
c.3484A>C (p.Ser1162Arg)
c.3799A>C (p.Ser1267Arg)
n.8371A>C
3g.9475750A>GCA2239844SETD5n.2943A>G
c.4084A>G (p.Ser1362Gly)
n.4977A>G
n.2368A>G
n.6230A>G
c.3988A>G (p.Ser1330Gly)
c.*4134A>G (n.*4134A>G)
c.*4057A>G (n.*4057A>G)
c.*4362A>G (n.*4362A>G)
c.*4093A>G (n.*4093A>G)
c.3694A>G (p.Ser1232Gly)
c.2722+594A>G
c.4045A>G (p.Ser1349Gly)
c.3024A>G
n.3329A>G
n.4152A>G
c.4162A>G (p.Ser1388Gly)
c.4141A>G (p.Ser1381Gly)
c.4123A>G (p.Ser1375Gly)
c.4105A>G (p.Ser1369Gly)
c.4066A>G (p.Ser1356Gly)
c.4027A>G (p.Ser1343Gly)
c.3751A>G (p.Ser1251Gly)
c.3712A>G (p.Ser1238Gly)
c.4102A>G (p.Ser1368Gly)
c.4009A>G (p.Ser1337Gly)
c.3484A>G (p.Ser1162Gly)
c.3799A>G (p.Ser1267Gly)
n.8371A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.9475750A>TCA351693472SETD5n.2943A>T
c.4084A>T (p.Ser1362Cys)
n.4977A>T
n.2368A>T
n.6230A>T
c.3988A>T (p.Ser1330Cys)
c.*4134A>T (n.*4134A>T)
c.*4057A>T (n.*4057A>T)
c.*4362A>T (n.*4362A>T)
c.*4093A>T (n.*4093A>T)
c.3694A>T (p.Ser1232Cys)
c.2722+594A>T
c.4045A>T (p.Ser1349Cys)
c.3024A>T
n.3329A>T
n.4152A>T
c.4162A>T (p.Ser1388Cys)
c.4141A>T (p.Ser1381Cys)
c.4123A>T (p.Ser1375Cys)
c.4105A>T (p.Ser1369Cys)
c.4066A>T (p.Ser1356Cys)
c.4027A>T (p.Ser1343Cys)
c.3751A>T (p.Ser1251Cys)
c.3712A>T (p.Ser1238Cys)
c.4102A>T (p.Ser1368Cys)
c.4009A>T (p.Ser1337Cys)
c.3484A>T (p.Ser1162Cys)
c.3799A>T (p.Ser1267Cys)
n.8371A>T
3g.9475751G>ACA351693485SETD5n.2944G>A
c.4085G>A (p.Ser1362Asn)
n.4978G>A
n.2369G>A
n.6231G>A
c.3989G>A (p.Ser1330Asn)
c.*4135G>A (n.*4135G>A)
c.*4058G>A (n.*4058G>A)
c.*4363G>A (n.*4363G>A)
c.*4094G>A (n.*4094G>A)
c.3695G>A (p.Ser1232Asn)
c.2722+595G>A
c.4046G>A (p.Ser1349Asn)
c.3025G>A
n.3330G>A
n.4153G>A
c.4163G>A (p.Ser1388Asn)
c.4142G>A (p.Ser1381Asn)
c.4124G>A (p.Ser1375Asn)
c.4106G>A (p.Ser1369Asn)
c.4067G>A (p.Ser1356Asn)
c.4028G>A (p.Ser1343Asn)
c.3752G>A (p.Ser1251Asn)
c.3713G>A (p.Ser1238Asn)
c.4103G>A (p.Ser1368Asn)
c.4010G>A (p.Ser1337Asn)
c.3485G>A (p.Ser1162Asn)
c.3800G>A (p.Ser1267Asn)
n.8372G>A
 gnomAD v4
3g.9475751G>CCA351693488SETD5n.2944G>C
c.4085G>C (p.Ser1362Thr)
n.4978G>C
n.2369G>C
n.6231G>C
c.3989G>C (p.Ser1330Thr)
c.*4135G>C (n.*4135G>C)
c.*4058G>C (n.*4058G>C)
c.*4363G>C (n.*4363G>C)
c.*4094G>C (n.*4094G>C)
c.3695G>C (p.Ser1232Thr)
c.2722+595G>C
c.4046G>C (p.Ser1349Thr)
c.3025G>C
n.3330G>C
n.4153G>C
c.4163G>C (p.Ser1388Thr)
c.4142G>C (p.Ser1381Thr)
c.4124G>C (p.Ser1375Thr)
c.4106G>C (p.Ser1369Thr)
c.4067G>C (p.Ser1356Thr)
c.4028G>C (p.Ser1343Thr)
c.3752G>C (p.Ser1251Thr)
c.3713G>C (p.Ser1238Thr)
c.4103G>C (p.Ser1368Thr)
c.4010G>C (p.Ser1337Thr)
c.3485G>C (p.Ser1162Thr)
c.3800G>C (p.Ser1267Thr)
n.8372G>C
3g.9475751G>TCA351693492SETD5n.2944G>T
c.4085G>T (p.Ser1362Ile)
n.4978G>T
n.2369G>T
n.6231G>T
c.3989G>T (p.Ser1330Ile)
c.*4135G>T (n.*4135G>T)
c.*4058G>T (n.*4058G>T)
c.*4363G>T (n.*4363G>T)
c.*4094G>T (n.*4094G>T)
c.3695G>T (p.Ser1232Ile)
c.2722+595G>T
c.4046G>T (p.Ser1349Ile)
c.3025G>T
n.3330G>T
n.4153G>T
c.4163G>T (p.Ser1388Ile)
c.4142G>T (p.Ser1381Ile)
c.4124G>T (p.Ser1375Ile)
c.4106G>T (p.Ser1369Ile)
c.4067G>T (p.Ser1356Ile)
c.4028G>T (p.Ser1343Ile)
c.3752G>T (p.Ser1251Ile)
c.3713G>T (p.Ser1238Ile)
c.4103G>T (p.Ser1368Ile)
c.4010G>T (p.Ser1337Ile)
c.3485G>T (p.Ser1162Ile)
c.3800G>T (p.Ser1267Ile)
n.8372G>T
3g.9475752C>ACA351693496SETD5n.2945C>A
c.4086C>A (p.Ser1362Arg)
n.4979C>A
n.2370C>A
n.6232C>A
c.3990C>A (p.Ser1330Arg)
c.*4136C>A (n.*4136C>A)
c.*4059C>A (n.*4059C>A)
c.*4364C>A (n.*4364C>A)
c.*4095C>A (n.*4095C>A)
c.3696C>A (p.Ser1232Arg)
c.2722+596C>A
c.4047C>A (p.Ser1349Arg)
c.3026C>A
n.3331C>A
n.4154C>A
c.4164C>A (p.Ser1388Arg)
c.4143C>A (p.Ser1381Arg)
c.4125C>A (p.Ser1375Arg)
c.4107C>A (p.Ser1369Arg)
c.4068C>A (p.Ser1356Arg)
c.4029C>A (p.Ser1343Arg)
c.3753C>A (p.Ser1251Arg)
c.3714C>A (p.Ser1238Arg)
c.4104C>A (p.Ser1368Arg)
c.4011C>A (p.Ser1337Arg)
c.3486C>A (p.Ser1162Arg)
c.3801C>A (p.Ser1267Arg)
n.8373C>A
3g.9475752C>GCA351693498SETD5n.2945C>G
c.4086C>G (p.Ser1362Arg)
n.4979C>G
n.2370C>G
n.6232C>G
c.3990C>G (p.Ser1330Arg)
c.*4136C>G (n.*4136C>G)
c.*4059C>G (n.*4059C>G)
c.*4364C>G (n.*4364C>G)
c.*4095C>G (n.*4095C>G)
c.3696C>G (p.Ser1232Arg)
c.2722+596C>G
c.4047C>G (p.Ser1349Arg)
c.3026C>G
n.3331C>G
n.4154C>G
c.4164C>G (p.Ser1388Arg)
c.4143C>G (p.Ser1381Arg)
c.4125C>G (p.Ser1375Arg)
c.4107C>G (p.Ser1369Arg)
c.4068C>G (p.Ser1356Arg)
c.4029C>G (p.Ser1343Arg)
c.3753C>G (p.Ser1251Arg)
c.3714C>G (p.Ser1238Arg)
c.4104C>G (p.Ser1368Arg)
c.4011C>G (p.Ser1337Arg)
c.3486C>G (p.Ser1162Arg)
c.3801C>G (p.Ser1267Arg)
n.8373C>G
3g.9475752C>TCA432528452SETD5n.2945C>T
c.4086C>T (p.Ser1362=)
n.4979C>T
n.2370C>T
n.6232C>T
c.3990C>T (p.Ser1330=)
c.*4136C>T (n.*4136C>T)
c.*4059C>T (n.*4059C>T)
c.*4364C>T (n.*4364C>T)
c.*4095C>T (n.*4095C>T)
c.3696C>T (p.Ser1232=)
c.2722+596C>T
c.4047C>T (p.Ser1349=)
c.3026C>T
n.3331C>T
n.4154C>T
c.4164C>T (p.Ser1388=)
c.4143C>T (p.Ser1381=)
c.4125C>T (p.Ser1375=)
c.4107C>T (p.Ser1369=)
c.4068C>T (p.Ser1356=)
c.4029C>T (p.Ser1343=)
c.3753C>T (p.Ser1251=)
c.3714C>T (p.Ser1238=)
c.4104C>T (p.Ser1368=)
c.4011C>T (p.Ser1337=)
c.3486C>T (p.Ser1162=)
c.3801C>T (p.Ser1267=)
n.8373C>T
3g.9475753A>CCA351693511SETD5n.2946A>C
c.4087A>C (p.Thr1363Pro)
n.4980A>C
n.2371A>C
n.6233A>C
c.3991A>C (p.Thr1331Pro)
c.*4137A>C (n.*4137A>C)
c.*4060A>C (n.*4060A>C)
c.*4365A>C (n.*4365A>C)
c.*4096A>C (n.*4096A>C)
c.3697A>C (p.Thr1233Pro)
c.2722+597A>C
c.4048A>C (p.Thr1350Pro)
c.3027A>C
n.3332A>C
n.4155A>C
c.4165A>C (p.Thr1389Pro)
c.4144A>C (p.Thr1382Pro)
c.4126A>C (p.Thr1376Pro)
c.4108A>C (p.Thr1370Pro)
c.4069A>C (p.Thr1357Pro)
c.4030A>C (p.Thr1344Pro)
c.3754A>C (p.Thr1252Pro)
c.3715A>C (p.Thr1239Pro)
c.4105A>C (p.Thr1369Pro)
c.4012A>C (p.Thr1338Pro)
c.3487A>C (p.Thr1163Pro)
c.3802A>C (p.Thr1268Pro)
n.8374A>C
3g.9475753A>GCA351693508SETD5n.2946A>G
c.4087A>G (p.Thr1363Ala)
n.4980A>G
n.2371A>G
n.6233A>G
c.3991A>G (p.Thr1331Ala)
c.*4137A>G (n.*4137A>G)
c.*4060A>G (n.*4060A>G)
c.*4365A>G (n.*4365A>G)
c.*4096A>G (n.*4096A>G)
c.3697A>G (p.Thr1233Ala)
c.2722+597A>G
c.4048A>G (p.Thr1350Ala)
c.3027A>G
n.3332A>G
n.4155A>G
c.4165A>G (p.Thr1389Ala)
c.4144A>G (p.Thr1382Ala)
c.4126A>G (p.Thr1376Ala)
c.4108A>G (p.Thr1370Ala)
c.4069A>G (p.Thr1357Ala)
c.4030A>G (p.Thr1344Ala)
c.3754A>G (p.Thr1252Ala)
c.3715A>G (p.Thr1239Ala)
c.4105A>G (p.Thr1369Ala)
c.4012A>G (p.Thr1338Ala)
c.3487A>G (p.Thr1163Ala)
c.3802A>G (p.Thr1268Ala)
n.8374A>G
3g.9475753A>TCA351693504SETD5n.2946A>T
c.4087A>T (p.Thr1363Ser)
n.4980A>T
n.2371A>T
n.6233A>T
c.3991A>T (p.Thr1331Ser)
c.*4137A>T (n.*4137A>T)
c.*4060A>T (n.*4060A>T)
c.*4365A>T (n.*4365A>T)
c.*4096A>T (n.*4096A>T)
c.3697A>T (p.Thr1233Ser)
c.2722+597A>T
c.4048A>T (p.Thr1350Ser)
c.3027A>T
n.3332A>T
n.4155A>T
c.4165A>T (p.Thr1389Ser)
c.4144A>T (p.Thr1382Ser)
c.4126A>T (p.Thr1376Ser)
c.4108A>T (p.Thr1370Ser)
c.4069A>T (p.Thr1357Ser)
c.4030A>T (p.Thr1344Ser)
c.3754A>T (p.Thr1252Ser)
c.3715A>T (p.Thr1239Ser)
c.4105A>T (p.Thr1369Ser)
c.4012A>T (p.Thr1338Ser)
c.3487A>T (p.Thr1163Ser)
c.3802A>T (p.Thr1268Ser)
n.8374A>T
3g.9475754C>ACA351693517SETD5n.2947C>A
c.4088C>A (p.Thr1363Asn)
n.4981C>A
n.2372C>A
n.6234C>A
c.3992C>A (p.Thr1331Asn)
c.*4138C>A (n.*4138C>A)
c.*4061C>A (n.*4061C>A)
c.*4366C>A (n.*4366C>A)
c.*4097C>A (n.*4097C>A)
c.3698C>A (p.Thr1233Asn)
c.2722+598C>A
c.4049C>A (p.Thr1350Asn)
c.3028C>A
n.3333C>A
n.4156C>A
c.4166C>A (p.Thr1389Asn)
c.4145C>A (p.Thr1382Asn)
c.4127C>A (p.Thr1376Asn)
c.4109C>A (p.Thr1370Asn)
c.4070C>A (p.Thr1357Asn)
c.4031C>A (p.Thr1344Asn)
c.3755C>A (p.Thr1252Asn)
c.3716C>A (p.Thr1239Asn)
c.4106C>A (p.Thr1369Asn)
c.4013C>A (p.Thr1338Asn)
c.3488C>A (p.Thr1163Asn)
c.3803C>A (p.Thr1268Asn)
n.8375C>A
3g.9475754C=CA1344742788SETD5n.2947C=
c.4088C= (p.Thr1363=)
n.4981C=
n.2372C=
n.6234C=
c.3992C= (p.Thr1331=)
c.*4138C= (n.*4138C=)
c.*4061C= (n.*4061C=)
c.*4366C= (n.*4366C=)
c.*4097C= (n.*4097C=)
c.3698C= (p.Thr1233=)
c.2722+598C=
c.4049C= (p.Thr1350=)
c.3028C=
n.3333C=
n.4156C=
c.4166C= (p.Thr1389=)
c.4145C= (p.Thr1382=)
c.4127C= (p.Thr1376=)
c.4109C= (p.Thr1370=)
c.4070C= (p.Thr1357=)
c.4031C= (p.Thr1344=)
c.3755C= (p.Thr1252=)
c.3716C= (p.Thr1239=)
c.4106C= (p.Thr1369=)
c.4013C= (p.Thr1338=)
c.3488C= (p.Thr1163=)
c.3803C= (p.Thr1268=)
n.8375C=
3g.9475754C>GCA351693520SETD5n.2947C>G
c.4088C>G (p.Thr1363Ser)
n.4981C>G
n.2372C>G
n.6234C>G
c.3992C>G (p.Thr1331Ser)
c.*4138C>G (n.*4138C>G)
c.*4061C>G (n.*4061C>G)
c.*4366C>G (n.*4366C>G)
c.*4097C>G (n.*4097C>G)
c.3698C>G (p.Thr1233Ser)
c.2722+598C>G
c.4049C>G (p.Thr1350Ser)
c.3028C>G
n.3333C>G
n.4156C>G
c.4166C>G (p.Thr1389Ser)
c.4145C>G (p.Thr1382Ser)
c.4127C>G (p.Thr1376Ser)
c.4109C>G (p.Thr1370Ser)
c.4070C>G (p.Thr1357Ser)
c.4031C>G (p.Thr1344Ser)
c.3755C>G (p.Thr1252Ser)
c.3716C>G (p.Thr1239Ser)
c.4106C>G (p.Thr1369Ser)
c.4013C>G (p.Thr1338Ser)
c.3488C>G (p.Thr1163Ser)
c.3803C>G (p.Thr1268Ser)
n.8375C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.9475754C>TCA2239845SETD5n.2947C>T
c.4088C>T (p.Thr1363Ile)
n.4981C>T
n.2372C>T
n.6234C>T
c.3992C>T (p.Thr1331Ile)
c.*4138C>T (n.*4138C>T)
c.*4061C>T (n.*4061C>T)
c.*4366C>T (n.*4366C>T)
c.*4097C>T (n.*4097C>T)
c.3698C>T (p.Thr1233Ile)
c.2722+598C>T
c.4049C>T (p.Thr1350Ile)
c.3028C>T
n.3333C>T
n.4156C>T
c.4166C>T (p.Thr1389Ile)
c.4145C>T (p.Thr1382Ile)
c.4127C>T (p.Thr1376Ile)
c.4109C>T (p.Thr1370Ile)
c.4070C>T (p.Thr1357Ile)
c.4031C>T (p.Thr1344Ile)
c.3755C>T (p.Thr1252Ile)
c.3716C>T (p.Thr1239Ile)
c.4106C>T (p.Thr1369Ile)
c.4013C>T (p.Thr1338Ile)
c.3488C>T (p.Thr1163Ile)
c.3803C>T (p.Thr1268Ile)
n.8375C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.9475755T>ACA432528456SETD5n.2948T>A
c.4089T>A (p.Thr1363=)
n.4982T>A
n.2373T>A
n.6235T>A
c.3993T>A (p.Thr1331=)
c.*4139T>A (n.*4139T>A)
c.*4062T>A (n.*4062T>A)
c.*4367T>A (n.*4367T>A)
c.*4098T>A (n.*4098T>A)
c.3699T>A (p.Thr1233=)
c.2722+599T>A
c.4050T>A (p.Thr1350=)
c.3029T>A
n.3334T>A
n.4157T>A
c.4167T>A (p.Thr1389=)
c.4146T>A (p.Thr1382=)
c.4128T>A (p.Thr1376=)
c.4110T>A (p.Thr1370=)
c.4071T>A (p.Thr1357=)
c.4032T>A (p.Thr1344=)
c.3756T>A (p.Thr1252=)
c.3717T>A (p.Thr1239=)
c.4107T>A (p.Thr1369=)
c.4014T>A (p.Thr1338=)
c.3489T>A (p.Thr1163=)
c.3804T>A (p.Thr1268=)
n.8376T>A
3g.9475755T>CCA432528457SETD5n.2948T>C
c.4089T>C (p.Thr1363=)
n.4982T>C
n.2373T>C
n.6235T>C
c.3993T>C (p.Thr1331=)
c.*4139T>C (n.*4139T>C)
c.*4062T>C (n.*4062T>C)
c.*4367T>C (n.*4367T>C)
c.*4098T>C (n.*4098T>C)
c.3699T>C (p.Thr1233=)
c.2722+599T>C
c.4050T>C (p.Thr1350=)
c.3029T>C
n.3334T>C
n.4157T>C
c.4167T>C (p.Thr1389=)
c.4146T>C (p.Thr1382=)
c.4128T>C (p.Thr1376=)
c.4110T>C (p.Thr1370=)
c.4071T>C (p.Thr1357=)
c.4032T>C (p.Thr1344=)
c.3756T>C (p.Thr1252=)
c.3717T>C (p.Thr1239=)
c.4107T>C (p.Thr1369=)
c.4014T>C (p.Thr1338=)
c.3489T>C (p.Thr1163=)
c.3804T>C (p.Thr1268=)
n.8376T>C
3g.9475755T>GCA432528458SETD5n.2948T>G
c.4089T>G (p.Thr1363=)
n.4982T>G
n.2373T>G
n.6235T>G
c.3993T>G (p.Thr1331=)
c.*4139T>G (n.*4139T>G)
c.*4062T>G (n.*4062T>G)
c.*4367T>G (n.*4367T>G)
c.*4098T>G (n.*4098T>G)
c.3699T>G (p.Thr1233=)
c.2722+599T>G
c.4050T>G (p.Thr1350=)
c.3029T>G
n.3334T>G
n.4157T>G
c.4167T>G (p.Thr1389=)
c.4146T>G (p.Thr1382=)
c.4128T>G (p.Thr1376=)
c.4110T>G (p.Thr1370=)
c.4071T>G (p.Thr1357=)
c.4032T>G (p.Thr1344=)
c.3756T>G (p.Thr1252=)
c.3717T>G (p.Thr1239=)
c.4107T>G (p.Thr1369=)
c.4014T>G (p.Thr1338=)
c.3489T>G (p.Thr1163=)
c.3804T>G (p.Thr1268=)
n.8376T>G
 dbSNP gnomAD v2 gnomAD v4
3g.9475755T=CA1344742789SETD5n.2948T=
c.4089T= (p.Thr1363=)
n.4982T=
n.2373T=
n.6235T=
c.3993T= (p.Thr1331=)
c.*4139T= (n.*4139T=)
c.*4062T= (n.*4062T=)
c.*4367T= (n.*4367T=)
c.*4098T= (n.*4098T=)
c.3699T= (p.Thr1233=)
c.2722+599T=
c.4050T= (p.Thr1350=)
c.3029T=
n.3334T=
n.4157T=
c.4167T= (p.Thr1389=)
c.4146T= (p.Thr1382=)
c.4128T= (p.Thr1376=)
c.4110T= (p.Thr1370=)
c.4071T= (p.Thr1357=)
c.4032T= (p.Thr1344=)
c.3756T= (p.Thr1252=)
c.3717T= (p.Thr1239=)
c.4107T= (p.Thr1369=)
c.4014T= (p.Thr1338=)
c.3489T= (p.Thr1163=)
c.3804T= (p.Thr1268=)
n.8376T=
3g.9475756G>ACA351693530SETD5n.2949G>A
c.4090G>A (p.Gly1364Ser)
n.4983G>A
n.2374G>A
n.6236G>A
c.3994G>A (p.Gly1332Ser)
c.*4140G>A (n.*4140G>A)
c.*4063G>A (n.*4063G>A)
c.*4368G>A (n.*4368G>A)
c.*4099G>A (n.*4099G>A)
c.3700G>A (p.Gly1234Ser)
c.2722+600G>A
c.4051G>A (p.Gly1351Ser)
c.3030G>A
n.3335G>A
n.4158G>A
c.4168G>A (p.Gly1390Ser)
c.4147G>A (p.Gly1383Ser)
c.4129G>A (p.Gly1377Ser)
c.4111G>A (p.Gly1371Ser)
c.4072G>A (p.Gly1358Ser)
c.4033G>A (p.Gly1345Ser)
c.3757G>A (p.Gly1253Ser)
c.3718G>A (p.Gly1240Ser)
c.4108G>A (p.Gly1370Ser)
c.4015G>A (p.Gly1339Ser)
c.3490G>A (p.Gly1164Ser)
c.3805G>A (p.Gly1269Ser)
n.8377G>A
3g.9475756G>CCA351693533SETD5n.2949G>C
c.4090G>C (p.Gly1364Arg)
n.4983G>C
n.2374G>C
n.6236G>C
c.3994G>C (p.Gly1332Arg)
c.*4140G>C (n.*4140G>C)
c.*4063G>C (n.*4063G>C)
c.*4368G>C (n.*4368G>C)
c.*4099G>C (n.*4099G>C)
c.3700G>C (p.Gly1234Arg)
c.2722+600G>C
c.4051G>C (p.Gly1351Arg)
c.3030G>C
n.3335G>C
n.4158G>C
c.4168G>C (p.Gly1390Arg)
c.4147G>C (p.Gly1383Arg)
c.4129G>C (p.Gly1377Arg)
c.4111G>C (p.Gly1371Arg)
c.4072G>C (p.Gly1358Arg)
c.4033G>C (p.Gly1345Arg)
c.3757G>C (p.Gly1253Arg)
c.3718G>C (p.Gly1240Arg)
c.4108G>C (p.Gly1370Arg)
c.4015G>C (p.Gly1339Arg)
c.3490G>C (p.Gly1164Arg)
c.3805G>C (p.Gly1269Arg)
n.8377G>C
3g.9475756G>TCA351693538SETD5n.2949G>T
c.4090G>T (p.Gly1364Cys)
n.4983G>T
n.2374G>T
n.6236G>T
c.3994G>T (p.Gly1332Cys)
c.*4140G>T (n.*4140G>T)
c.*4063G>T (n.*4063G>T)
c.*4368G>T (n.*4368G>T)
c.*4099G>T (n.*4099G>T)
c.3700G>T (p.Gly1234Cys)
c.2722+600G>T
c.4051G>T (p.Gly1351Cys)
c.3030G>T
n.3335G>T
n.4158G>T
c.4168G>T (p.Gly1390Cys)
c.4147G>T (p.Gly1383Cys)
c.4129G>T (p.Gly1377Cys)
c.4111G>T (p.Gly1371Cys)
c.4072G>T (p.Gly1358Cys)
c.4033G>T (p.Gly1345Cys)
c.3757G>T (p.Gly1253Cys)
c.3718G>T (p.Gly1240Cys)
c.4108G>T (p.Gly1370Cys)
c.4015G>T (p.Gly1339Cys)
c.3490G>T (p.Gly1164Cys)
c.3805G>T (p.Gly1269Cys)
n.8377G>T
3g.9475757G>ACA351693544SETD5n.2950G>A
c.4091G>A (p.Gly1364Asp)
n.4984G>A
n.2375G>A
n.6237G>A
c.3995G>A (p.Gly1332Asp)
c.*4141G>A (n.*4141G>A)
c.*4064G>A (n.*4064G>A)
c.*4369G>A (n.*4369G>A)
c.*4100G>A (n.*4100G>A)
c.3701G>A (p.Gly1234Asp)
c.2722+601G>A
c.4052G>A (p.Gly1351Asp)
c.3031G>A
n.3336G>A
n.4159G>A
c.4169G>A (p.Gly1390Asp)
c.4148G>A (p.Gly1383Asp)
c.4130G>A (p.Gly1377Asp)
c.4112G>A (p.Gly1371Asp)
c.4073G>A (p.Gly1358Asp)
c.4034G>A (p.Gly1345Asp)
c.3758G>A (p.Gly1253Asp)
c.3719G>A (p.Gly1240Asp)
c.4109G>A (p.Gly1370Asp)
c.4016G>A (p.Gly1339Asp)
c.3491G>A (p.Gly1164Asp)
c.3806G>A (p.Gly1269Asp)
n.8378G>A
3g.9475757G>CCA351693549SETD5n.2950G>C
c.4091G>C (p.Gly1364Ala)
n.4984G>C
n.2375G>C
n.6237G>C
c.3995G>C (p.Gly1332Ala)
c.*4141G>C (n.*4141G>C)
c.*4064G>C (n.*4064G>C)
c.*4369G>C (n.*4369G>C)
c.*4100G>C (n.*4100G>C)
c.3701G>C (p.Gly1234Ala)
c.2722+601G>C
c.4052G>C (p.Gly1351Ala)
c.3031G>C
n.3336G>C
n.4159G>C
c.4169G>C (p.Gly1390Ala)
c.4148G>C (p.Gly1383Ala)
c.4130G>C (p.Gly1377Ala)
c.4112G>C (p.Gly1371Ala)
c.4073G>C (p.Gly1358Ala)
c.4034G>C (p.Gly1345Ala)
c.3758G>C (p.Gly1253Ala)
c.3719G>C (p.Gly1240Ala)
c.4109G>C (p.Gly1370Ala)
c.4016G>C (p.Gly1339Ala)
c.3491G>C (p.Gly1164Ala)
c.3806G>C (p.Gly1269Ala)
n.8378G>C
 gnomAD v4
3g.9475757G>TCA351693546SETD5n.2950G>T
c.4091G>T (p.Gly1364Val)
n.4984G>T
n.2375G>T
n.6237G>T
c.3995G>T (p.Gly1332Val)
c.*4141G>T (n.*4141G>T)
c.*4064G>T (n.*4064G>T)
c.*4369G>T (n.*4369G>T)
c.*4100G>T (n.*4100G>T)
c.3701G>T (p.Gly1234Val)
c.2722+601G>T
c.4052G>T (p.Gly1351Val)
c.3031G>T
n.3336G>T
n.4159G>T
c.4169G>T (p.Gly1390Val)
c.4148G>T (p.Gly1383Val)
c.4130G>T (p.Gly1377Val)
c.4112G>T (p.Gly1371Val)
c.4073G>T (p.Gly1358Val)
c.4034G>T (p.Gly1345Val)
c.3758G>T (p.Gly1253Val)
c.3719G>T (p.Gly1240Val)
c.4109G>T (p.Gly1370Val)
c.4016G>T (p.Gly1339Val)
c.3491G>T (p.Gly1164Val)
c.3806G>T (p.Gly1269Val)
n.8378G>T
3g.9475758C>ACA432528463SETD5n.2951C>A
c.4092C>A (p.Gly1364=)
n.4985C>A
n.2376C>A
n.6238C>A
c.3996C>A (p.Gly1332=)
c.*4142C>A (n.*4142C>A)
c.*4065C>A (n.*4065C>A)
c.*4370C>A (n.*4370C>A)
c.*4101C>A (n.*4101C>A)
c.3702C>A (p.Gly1234=)
c.2722+602C>A
c.4053C>A (p.Gly1351=)
c.3032C>A
n.3337C>A
n.4160C>A
c.4170C>A (p.Gly1390=)
c.4149C>A (p.Gly1383=)
c.4131C>A (p.Gly1377=)
c.4113C>A (p.Gly1371=)
c.4074C>A (p.Gly1358=)
c.4035C>A (p.Gly1345=)
c.3759C>A (p.Gly1253=)
c.3720C>A (p.Gly1240=)
c.4110C>A (p.Gly1370=)
c.4017C>A (p.Gly1339=)
c.3492C>A (p.Gly1164=)
c.3807C>A (p.Gly1269=)
n.8379C>A
3g.9475758C>GCA432528465SETD5n.2951C>G
c.4092C>G (p.Gly1364=)
n.4985C>G
n.2376C>G
n.6238C>G
c.3996C>G (p.Gly1332=)
c.*4142C>G (n.*4142C>G)
c.*4065C>G (n.*4065C>G)
c.*4370C>G (n.*4370C>G)
c.*4101C>G (n.*4101C>G)
c.3702C>G (p.Gly1234=)
c.2722+602C>G
c.4053C>G (p.Gly1351=)
c.3032C>G
n.3337C>G
n.4160C>G
c.4170C>G (p.Gly1390=)
c.4149C>G (p.Gly1383=)
c.4131C>G (p.Gly1377=)
c.4113C>G (p.Gly1371=)
c.4074C>G (p.Gly1358=)
c.4035C>G (p.Gly1345=)
c.3759C>G (p.Gly1253=)
c.3720C>G (p.Gly1240=)
c.4110C>G (p.Gly1370=)
c.4017C>G (p.Gly1339=)
c.3492C>G (p.Gly1164=)
c.3807C>G (p.Gly1269=)
n.8379C>G
3g.9475758C>TCA432528467SETD5n.2951C>T
c.4092C>T (p.Gly1364=)
n.4985C>T
n.2376C>T
n.6238C>T
c.3996C>T (p.Gly1332=)
c.*4142C>T (n.*4142C>T)
c.*4065C>T (n.*4065C>T)
c.*4370C>T (n.*4370C>T)
c.*4101C>T (n.*4101C>T)
c.3702C>T (p.Gly1234=)
c.2722+602C>T
c.4053C>T (p.Gly1351=)
c.3032C>T
n.3337C>T
n.4160C>T
c.4170C>T (p.Gly1390=)
c.4149C>T (p.Gly1383=)
c.4131C>T (p.Gly1377=)
c.4113C>T (p.Gly1371=)
c.4074C>T (p.Gly1358=)
c.4035C>T (p.Gly1345=)
c.3759C>T (p.Gly1253=)
c.3720C>T (p.Gly1240=)
c.4110C>T (p.Gly1370=)
c.4017C>T (p.Gly1339=)
c.3492C>T (p.Gly1164=)
c.3807C>T (p.Gly1269=)
n.8379C>T
 gnomAD v4
3g.9475759A=CA1344742790SETD5n.2952A=
c.4093A= (p.Ser1365=)
n.4986A=
n.2377A=
n.6239A=
c.3997A= (p.Ser1333=)
c.*4143A= (n.*4143A=)
c.*4066A= (n.*4066A=)
c.*4371A= (n.*4371A=)
c.*4102A= (n.*4102A=)
c.3703A= (p.Ser1235=)
c.2722+603A=
c.4054A= (p.Ser1352=)
c.3033A=
n.3338A=
n.4161A=
c.4171A= (p.Ser1391=)
c.4150A= (p.Ser1384=)
c.4132A= (p.Ser1378=)
c.4114A= (p.Ser1372=)
c.4075A= (p.Ser1359=)
c.4036A= (p.Ser1346=)
c.3760A= (p.Ser1254=)
c.3721A= (p.Ser1241=)
c.4111A= (p.Ser1371=)
c.4018A= (p.Ser1340=)
c.3493A= (p.Ser1165=)
c.3808A= (p.Ser1270=)
n.8380A=
3g.9475759A>CCA351693553SETD5n.2952A>C
c.4093A>C (p.Ser1365Arg)
n.4986A>C
n.2377A>C
n.6239A>C
c.3997A>C (p.Ser1333Arg)
c.*4143A>C (n.*4143A>C)
c.*4066A>C (n.*4066A>C)
c.*4371A>C (n.*4371A>C)
c.*4102A>C (n.*4102A>C)
c.3703A>C (p.Ser1235Arg)
c.2722+603A>C
c.4054A>C (p.Ser1352Arg)
c.3033A>C
n.3338A>C
n.4161A>C
c.4171A>C (p.Ser1391Arg)
c.4150A>C (p.Ser1384Arg)
c.4132A>C (p.Ser1378Arg)
c.4114A>C (p.Ser1372Arg)
c.4075A>C (p.Ser1359Arg)
c.4036A>C (p.Ser1346Arg)
c.3760A>C (p.Ser1254Arg)
c.3721A>C (p.Ser1241Arg)
c.4111A>C (p.Ser1371Arg)
c.4018A>C (p.Ser1340Arg)
c.3493A>C (p.Ser1165Arg)
c.3808A>C (p.Ser1270Arg)
n.8380A>C
 gnomAD v4
3g.9475759A>GCA351693556SETD5n.2952A>G
c.4093A>G (p.Ser1365Gly)
n.4986A>G
n.2377A>G
n.6239A>G
c.3997A>G (p.Ser1333Gly)
c.*4143A>G (n.*4143A>G)
c.*4066A>G (n.*4066A>G)
c.*4371A>G (n.*4371A>G)
c.*4102A>G (n.*4102A>G)
c.3703A>G (p.Ser1235Gly)
c.2722+603A>G
c.4054A>G (p.Ser1352Gly)
c.3033A>G
n.3338A>G
n.4161A>G
c.4171A>G (p.Ser1391Gly)
c.4150A>G (p.Ser1384Gly)
c.4132A>G (p.Ser1378Gly)
c.4114A>G (p.Ser1372Gly)
c.4075A>G (p.Ser1359Gly)
c.4036A>G (p.Ser1346Gly)
c.3760A>G (p.Ser1254Gly)
c.3721A>G (p.Ser1241Gly)
c.4111A>G (p.Ser1371Gly)
c.4018A>G (p.Ser1340Gly)
c.3493A>G (p.Ser1165Gly)
c.3808A>G (p.Ser1270Gly)
n.8380A>G
 dbSNP gnomAD v3 gnomAD v4
3g.9475759A>TCA351693559SETD5n.2952A>T
c.4093A>T (p.Ser1365Cys)
n.4986A>T
n.2377A>T
n.6239A>T
c.3997A>T (p.Ser1333Cys)
c.*4143A>T (n.*4143A>T)
c.*4066A>T (n.*4066A>T)
c.*4371A>T (n.*4371A>T)
c.*4102A>T (n.*4102A>T)
c.3703A>T (p.Ser1235Cys)
c.2722+603A>T
c.4054A>T (p.Ser1352Cys)
c.3033A>T
n.3338A>T
n.4161A>T
c.4171A>T (p.Ser1391Cys)
c.4150A>T (p.Ser1384Cys)
c.4132A>T (p.Ser1378Cys)
c.4114A>T (p.Ser1372Cys)
c.4075A>T (p.Ser1359Cys)
c.4036A>T (p.Ser1346Cys)
c.3760A>T (p.Ser1254Cys)
c.3721A>T (p.Ser1241Cys)
c.4111A>T (p.Ser1371Cys)
c.4018A>T (p.Ser1340Cys)
c.3493A>T (p.Ser1165Cys)
c.3808A>T (p.Ser1270Cys)
n.8380A>T
3g.9475760G>ACA2239846SETD5n.2953G>A
c.4094G>A (p.Ser1365Asn)
n.4987G>A
n.2378G>A
n.6240G>A
c.3998G>A (p.Ser1333Asn)
c.*4144G>A (n.*4144G>A)
c.*4067G>A (n.*4067G>A)
c.*4372G>A (n.*4372G>A)
c.*4103G>A (n.*4103G>A)
c.3704G>A (p.Ser1235Asn)
c.2722+604G>A
c.4055G>A (p.Ser1352Asn)
c.3034G>A
n.3339G>A
n.4162G>A
c.4172G>A (p.Ser1391Asn)
c.4151G>A (p.Ser1384Asn)
c.4133G>A (p.Ser1378Asn)
c.4115G>A (p.Ser1372Asn)
c.4076G>A (p.Ser1359Asn)
c.4037G>A (p.Ser1346Asn)
c.3761G>A (p.Ser1254Asn)
c.3722G>A (p.Ser1241Asn)
c.4112G>A (p.Ser1371Asn)
c.4019G>A (p.Ser1340Asn)
c.3494G>A (p.Ser1165Asn)
c.3809G>A (p.Ser1270Asn)
n.8381G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.9475760G>CCA351693570SETD5n.2953G>C
c.4094G>C (p.Ser1365Thr)
n.4987G>C
n.2378G>C
n.6240G>C
c.3998G>C (p.Ser1333Thr)
c.*4144G>C (n.*4144G>C)
c.*4067G>C (n.*4067G>C)
c.*4372G>C (n.*4372G>C)
c.*4103G>C (n.*4103G>C)
c.3704G>C (p.Ser1235Thr)
c.2722+604G>C
c.4055G>C (p.Ser1352Thr)
c.3034G>C
n.3339G>C
n.4162G>C
c.4172G>C (p.Ser1391Thr)
c.4151G>C (p.Ser1384Thr)
c.4133G>C (p.Ser1378Thr)
c.4115G>C (p.Ser1372Thr)
c.4076G>C (p.Ser1359Thr)
c.4037G>C (p.Ser1346Thr)
c.3761G>C (p.Ser1254Thr)
c.3722G>C (p.Ser1241Thr)
c.4112G>C (p.Ser1371Thr)
c.4019G>C (p.Ser1340Thr)
c.3494G>C (p.Ser1165Thr)
c.3809G>C (p.Ser1270Thr)
n.8381G>C
3g.9475760G=CA1344742791SETD5n.2953G=
c.4094G= (p.Ser1365=)
n.4987G=
n.2378G=
n.6240G=
c.3998G= (p.Ser1333=)
c.*4144G= (n.*4144G=)
c.*4067G= (n.*4067G=)
c.*4372G= (n.*4372G=)
c.*4103G= (n.*4103G=)
c.3704G= (p.Ser1235=)
c.2722+604G=
c.4055G= (p.Ser1352=)
c.3034G=
n.3339G=
n.4162G=
c.4172G= (p.Ser1391=)
c.4151G= (p.Ser1384=)
c.4133G= (p.Ser1378=)
c.4115G= (p.Ser1372=)
c.4076G= (p.Ser1359=)
c.4037G= (p.Ser1346=)
c.3761G= (p.Ser1254=)
c.3722G= (p.Ser1241=)
c.4112G= (p.Ser1371=)
c.4019G= (p.Ser1340=)
c.3494G= (p.Ser1165=)
c.3809G= (p.Ser1270=)
n.8381G=
3g.9475760G>TCA351693576SETD5n.2953G>T
c.4094G>T (p.Ser1365Ile)
n.4987G>T
n.2378G>T
n.6240G>T
c.3998G>T (p.Ser1333Ile)
c.*4144G>T (n.*4144G>T)
c.*4067G>T (n.*4067G>T)
c.*4372G>T (n.*4372G>T)
c.*4103G>T (n.*4103G>T)
c.3704G>T (p.Ser1235Ile)
c.2722+604G>T
c.4055G>T (p.Ser1352Ile)
c.3034G>T
n.3339G>T
n.4162G>T
c.4172G>T (p.Ser1391Ile)
c.4151G>T (p.Ser1384Ile)
c.4133G>T (p.Ser1378Ile)
c.4115G>T (p.Ser1372Ile)
c.4076G>T (p.Ser1359Ile)
c.4037G>T (p.Ser1346Ile)
c.3761G>T (p.Ser1254Ile)
c.3722G>T (p.Ser1241Ile)
c.4112G>T (p.Ser1371Ile)
c.4019G>T (p.Ser1340Ile)
c.3494G>T (p.Ser1165Ile)
c.3809G>T (p.Ser1270Ile)
n.8381G>T
3g.9475761C>ACA351693580SETD5n.2954C>A
c.4095C>A (p.Ser1365Arg)
n.4988C>A
n.2379C>A
n.6241C>A
c.3999C>A (p.Ser1333Arg)
c.*4145C>A (n.*4145C>A)
c.*4068C>A (n.*4068C>A)
c.*4373C>A (n.*4373C>A)
c.*4104C>A (n.*4104C>A)
c.3705C>A (p.Ser1235Arg)
c.2722+605C>A
c.4056C>A (p.Ser1352Arg)
c.3035C>A
n.3340C>A
n.4163C>A
c.4173C>A (p.Ser1391Arg)
c.4152C>A (p.Ser1384Arg)
c.4134C>A (p.Ser1378Arg)
c.4116C>A (p.Ser1372Arg)
c.4077C>A (p.Ser1359Arg)
c.4038C>A (p.Ser1346Arg)
c.3762C>A (p.Ser1254Arg)
c.3723C>A (p.Ser1241Arg)
c.4113C>A (p.Ser1371Arg)
c.4020C>A (p.Ser1340Arg)
c.3495C>A (p.Ser1165Arg)
c.3810C>A (p.Ser1270Arg)
n.8382C>A
3g.9475761C>GCA351693584SETD5n.2954C>G
c.4095C>G (p.Ser1365Arg)
n.4988C>G
n.2379C>G
n.6241C>G
c.3999C>G (p.Ser1333Arg)
c.*4145C>G (n.*4145C>G)
c.*4068C>G (n.*4068C>G)
c.*4373C>G (n.*4373C>G)
c.*4104C>G (n.*4104C>G)
c.3705C>G (p.Ser1235Arg)
c.2722+605C>G
c.4056C>G (p.Ser1352Arg)
c.3035C>G
n.3340C>G
n.4163C>G
c.4173C>G (p.Ser1391Arg)
c.4152C>G (p.Ser1384Arg)
c.4134C>G (p.Ser1378Arg)
c.4116C>G (p.Ser1372Arg)
c.4077C>G (p.Ser1359Arg)
c.4038C>G (p.Ser1346Arg)
c.3762C>G (p.Ser1254Arg)
c.3723C>G (p.Ser1241Arg)
c.4113C>G (p.Ser1371Arg)
c.4020C>G (p.Ser1340Arg)
c.3495C>G (p.Ser1165Arg)
c.3810C>G (p.Ser1270Arg)
n.8382C>G
3g.9475761C>TCA432528469SETD5n.2954C>T
c.4095C>T (p.Ser1365=)
n.4988C>T
n.2379C>T
n.6241C>T
c.3999C>T (p.Ser1333=)
c.*4145C>T (n.*4145C>T)
c.*4068C>T (n.*4068C>T)
c.*4373C>T (n.*4373C>T)
c.*4104C>T (n.*4104C>T)
c.3705C>T (p.Ser1235=)
c.2722+605C>T
c.4056C>T (p.Ser1352=)
c.3035C>T
n.3340C>T
n.4163C>T
c.4173C>T (p.Ser1391=)
c.4152C>T (p.Ser1384=)
c.4134C>T (p.Ser1378=)
c.4116C>T (p.Ser1372=)
c.4077C>T (p.Ser1359=)
c.4038C>T (p.Ser1346=)
c.3762C>T (p.Ser1254=)
c.3723C>T (p.Ser1241=)
c.4113C>T (p.Ser1371=)
c.4020C>T (p.Ser1340=)
c.3495C>T (p.Ser1165=)
c.3810C>T (p.Ser1270=)
n.8382C>T
 gnomAD v4
3g.9475762A>CCA351693590SETD5n.2955A>C
c.4096A>C (p.Asn1366His)
n.4989A>C
n.2380A>C
n.6242A>C
c.4000A>C (p.Asn1334His)
c.*4146A>C (n.*4146A>C)
c.*4069A>C (n.*4069A>C)
c.*4374A>C (n.*4374A>C)
c.*4105A>C (n.*4105A>C)
c.3706A>C (p.Asn1236His)
c.2722+606A>C
c.4057A>C (p.Asn1353His)
c.3036A>C
n.3341A>C
n.4164A>C
c.4174A>C (p.Asn1392His)
c.4153A>C (p.Asn1385His)
c.4135A>C (p.Asn1379His)
c.4117A>C (p.Asn1373His)
c.4078A>C (p.Asn1360His)
c.4039A>C (p.Asn1347His)
c.3763A>C (p.Asn1255His)
c.3724A>C (p.Asn1242His)
c.4114A>C (p.Asn1372His)
c.4021A>C (p.Asn1341His)
c.3496A>C (p.Asn1166His)
c.3811A>C (p.Asn1271His)
n.8383A>C
3g.9475762A>GCA351693593SETD5n.2955A>G
c.4096A>G (p.Asn1366Asp)
n.4989A>G
n.2380A>G
n.6242A>G
c.4000A>G (p.Asn1334Asp)
c.*4146A>G (n.*4146A>G)
c.*4069A>G (n.*4069A>G)
c.*4374A>G (n.*4374A>G)
c.*4105A>G (n.*4105A>G)
c.3706A>G (p.Asn1236Asp)
c.2722+606A>G
c.4057A>G (p.Asn1353Asp)
c.3036A>G
n.3341A>G
n.4164A>G
c.4174A>G (p.Asn1392Asp)
c.4153A>G (p.Asn1385Asp)
c.4135A>G (p.Asn1379Asp)
c.4117A>G (p.Asn1373Asp)
c.4078A>G (p.Asn1360Asp)
c.4039A>G (p.Asn1347Asp)
c.3763A>G (p.Asn1255Asp)
c.3724A>G (p.Asn1242Asp)
c.4114A>G (p.Asn1372Asp)
c.4021A>G (p.Asn1341Asp)
c.3496A>G (p.Asn1166Asp)
c.3811A>G (p.Asn1271Asp)
n.8383A>G
3g.9475762A>TCA351693595SETD5n.2955A>T
c.4096A>T (p.Asn1366Tyr)
n.4989A>T
n.2380A>T
n.6242A>T
c.4000A>T (p.Asn1334Tyr)
c.*4146A>T (n.*4146A>T)
c.*4069A>T (n.*4069A>T)
c.*4374A>T (n.*4374A>T)
c.*4105A>T (n.*4105A>T)
c.3706A>T (p.Asn1236Tyr)
c.2722+606A>T
c.4057A>T (p.Asn1353Tyr)
c.3036A>T
n.3341A>T
n.4164A>T
c.4174A>T (p.Asn1392Tyr)
c.4153A>T (p.Asn1385Tyr)
c.4135A>T (p.Asn1379Tyr)
c.4117A>T (p.Asn1373Tyr)
c.4078A>T (p.Asn1360Tyr)
c.4039A>T (p.Asn1347Tyr)
c.3763A>T (p.Asn1255Tyr)
c.3724A>T (p.Asn1242Tyr)
c.4114A>T (p.Asn1372Tyr)
c.4021A>T (p.Asn1341Tyr)
c.3496A>T (p.Asn1166Tyr)
c.3811A>T (p.Asn1271Tyr)
n.8383A>T
3g.9475763A=CA1344742792SETD5n.2956A=
c.4097A= (p.Asn1366=)
n.4990A=
n.2381A=
n.6243A=
c.4001A= (p.Asn1334=)
c.*4147A= (n.*4147A=)
c.*4070A= (n.*4070A=)
c.*4375A= (n.*4375A=)
c.*4106A= (n.*4106A=)
c.3707A= (p.Asn1236=)
c.2722+607A=
c.4058A= (p.Asn1353=)
c.3037A=
n.3342A=
n.4165A=
c.4175A= (p.Asn1392=)
c.4154A= (p.Asn1385=)
c.4136A= (p.Asn1379=)
c.4118A= (p.Asn1373=)
c.4079A= (p.Asn1360=)
c.4040A= (p.Asn1347=)
c.3764A= (p.Asn1255=)
c.3725A= (p.Asn1242=)
c.4115A= (p.Asn1372=)
c.4022A= (p.Asn1341=)
c.3497A= (p.Asn1166=)
c.3812A= (p.Asn1271=)
n.8384A=
3g.9475763A>CCA351693604SETD5n.2956A>C
c.4097A>C (p.Asn1366Thr)
n.4990A>C
n.2381A>C
n.6243A>C
c.4001A>C (p.Asn1334Thr)
c.*4147A>C (n.*4147A>C)
c.*4070A>C (n.*4070A>C)
c.*4375A>C (n.*4375A>C)
c.*4106A>C (n.*4106A>C)
c.3707A>C (p.Asn1236Thr)
c.2722+607A>C
c.4058A>C (p.Asn1353Thr)
c.3037A>C
n.3342A>C
n.4165A>C
c.4175A>C (p.Asn1392Thr)
c.4154A>C (p.Asn1385Thr)
c.4136A>C (p.Asn1379Thr)
c.4118A>C (p.Asn1373Thr)
c.4079A>C (p.Asn1360Thr)
c.4040A>C (p.Asn1347Thr)
c.3764A>C (p.Asn1255Thr)
c.3725A>C (p.Asn1242Thr)
c.4115A>C (p.Asn1372Thr)
c.4022A>C (p.Asn1341Thr)
c.3497A>C (p.Asn1166Thr)
c.3812A>C (p.Asn1271Thr)
n.8384A>C
3g.9475763A>GCA2239847SETD5n.2956A>G
c.4097A>G (p.Asn1366Ser)
n.4990A>G
n.2381A>G
n.6243A>G
c.4001A>G (p.Asn1334Ser)
c.*4147A>G (n.*4147A>G)
c.*4070A>G (n.*4070A>G)
c.*4375A>G (n.*4375A>G)
c.*4106A>G (n.*4106A>G)
c.3707A>G (p.Asn1236Ser)
c.2722+607A>G
c.4058A>G (p.Asn1353Ser)
c.3037A>G
n.3342A>G
n.4165A>G
c.4175A>G (p.Asn1392Ser)
c.4154A>G (p.Asn1385Ser)
c.4136A>G (p.Asn1379Ser)
c.4118A>G (p.Asn1373Ser)
c.4079A>G (p.Asn1360Ser)
c.4040A>G (p.Asn1347Ser)
c.3764A>G (p.Asn1255Ser)
c.3725A>G (p.Asn1242Ser)
c.4115A>G (p.Asn1372Ser)
c.4022A>G (p.Asn1341Ser)
c.3497A>G (p.Asn1166Ser)
c.3812A>G (p.Asn1271Ser)
n.8384A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475763A>TCA351693600SETD5n.2956A>T
c.4097A>T (p.Asn1366Ile)
n.4990A>T
n.2381A>T
n.6243A>T
c.4001A>T (p.Asn1334Ile)
c.*4147A>T (n.*4147A>T)
c.*4070A>T (n.*4070A>T)
c.*4375A>T (n.*4375A>T)
c.*4106A>T (n.*4106A>T)
c.3707A>T (p.Asn1236Ile)
c.2722+607A>T
c.4058A>T (p.Asn1353Ile)
c.3037A>T
n.3342A>T
n.4165A>T
c.4175A>T (p.Asn1392Ile)
c.4154A>T (p.Asn1385Ile)
c.4136A>T (p.Asn1379Ile)
c.4118A>T (p.Asn1373Ile)
c.4079A>T (p.Asn1360Ile)
c.4040A>T (p.Asn1347Ile)
c.3764A>T (p.Asn1255Ile)
c.3725A>T (p.Asn1242Ile)
c.4115A>T (p.Asn1372Ile)
c.4022A>T (p.Asn1341Ile)
c.3497A>T (p.Asn1166Ile)
c.3812A>T (p.Asn1271Ile)
n.8384A>T

Number of alleles fetched