Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.9475616_9475618delinsCCTCA1344742495SETD5n.2809_2811delinsCCT
c.3950_3952delinsCCT (p.Pro1317=)
n.4843_4845delinsCCT
n.2234_2236delinsCCT
n.6651_6653delinsCCT
n.6096_6098delinsCCT
c.3854_3856delinsCCT (p.Pro1285=)
c.*4000_*4002delinsCCT (n.*4000_*4002delinsCCT)
c.*3923_*3925delinsCCT (n.*3923_*3925delinsCCT)
c.*4228_*4230delinsCCT (n.*4228_*4230delinsCCT)
c.*3959_*3961delinsCCT (n.*3959_*3961delinsCCT)
c.3560_3562delinsCCT (p.Pro1187=)
c.2722+460_2722+462delinsCCT
c.3911_3913delinsCCT (p.Pro1304=)
c.2890_2892delinsCCT
n.985_987delinsCCT
n.3195_3197delinsCCT
n.241_243delinsCCT
n.4018_4020delinsCCT
c.4028_4030delinsCCT (p.Pro1343=)
c.4007_4009delinsCCT (p.Pro1336=)
c.3989_3991delinsCCT (p.Pro1330=)
c.3971_3973delinsCCT (p.Pro1324=)
c.3932_3934delinsCCT (p.Pro1311=)
c.3893_3895delinsCCT (p.Pro1298=)
c.3617_3619delinsCCT (p.Pro1206=)
c.3578_3580delinsCCT (p.Pro1193=)
c.3968_3970delinsCCT (p.Pro1323=)
c.3875_3877delinsCCT (p.Pro1292=)
c.3350_3352delinsCCT (p.Pro1117=)
c.3665_3667delinsCCT (p.Pro1222=)
n.8237_8239delinsCCT
3g.9475617_9475618delinsCTCA1344742507SETD5n.2810_2811delinsCT
c.3951_3952delinsCT (p.Pro1317=)
n.4844_4845delinsCT
n.2235_2236delinsCT
n.6652_6653delinsCT
n.6097_6098delinsCT
c.3855_3856delinsCT (p.Pro1285=)
c.*4001_*4002delinsCT (n.*4001_*4002delinsCT)
c.*3924_*3925delinsCT (n.*3924_*3925delinsCT)
c.*4229_*4230delinsCT (n.*4229_*4230delinsCT)
c.*3960_*3961delinsCT (n.*3960_*3961delinsCT)
c.3561_3562delinsCT (p.Pro1187=)
c.2722+461_2722+462delinsCT
c.3912_3913delinsCT (p.Pro1304=)
c.2891_2892delinsCT
n.986_987delinsCT
n.3196_3197delinsCT
n.242_243delinsCT
n.4019_4020delinsCT
c.4029_4030delinsCT (p.Pro1343=)
c.4008_4009delinsCT (p.Pro1336=)
c.3990_3991delinsCT (p.Pro1330=)
c.3972_3973delinsCT (p.Pro1324=)
c.3933_3934delinsCT (p.Pro1311=)
c.3894_3895delinsCT (p.Pro1298=)
c.3618_3619delinsCT (p.Pro1206=)
c.3579_3580delinsCT (p.Pro1193=)
c.3969_3970delinsCT (p.Pro1323=)
c.3876_3877delinsCT (p.Pro1292=)
c.3351_3352delinsCT (p.Pro1117=)
c.3666_3667delinsCT (p.Pro1222=)
n.8238_8239delinsCT
3g.9475620_9475621delCA1139657878SETD5n.2813_2814del
c.3954_3955del (p.His1319ArgfsTer?)
n.4847_4848del
n.2238_2239del
n.6655_6656del
n.6100_6101del
c.3858_3859del (p.His1287ArgfsTer?)
c.*4004_*4005del (n.*4004_*4005del)
c.*3927_*3928del (n.*3927_*3928del)
c.*4232_*4233del (n.*4232_*4233del)
c.*3963_*3964del (n.*3963_*3964del)
c.3564_3565del (p.His1189ArgfsTer?)
c.2722+464_2722+465del
c.3915_3916del (p.His1306ArgfsTer?)
c.2894_2895del
n.989_990del
n.3199_3200del
n.245_246del
n.4022_4023del
c.4032_4033del (p.His1345ArgfsTer?)
c.4011_4012del (p.His1338ArgfsTer?)
c.3993_3994del (p.His1332ArgfsTer?)
c.3975_3976del (p.His1326ArgfsTer?)
c.3936_3937del (p.His1313ArgfsTer?)
c.3897_3898del (p.His1300ArgfsTer?)
c.3621_3622del (p.His1208ArgfsTer?)
c.3582_3583del (p.His1195ArgfsTer?)
c.3972_3973del (p.His1325ArgfsTer?)
c.3879_3880del (p.His1294ArgfsTer?)
c.3354_3355del (p.His1119ArgfsTer?)
c.3669_3670del (p.His1224ArgfsTer?)
n.8241_8242del
 ClinVar dbSNP
3g.9475618delCA251338SETD5n.2811del
c.3952del (p.Ser1318LeufsTer?)
n.4845del
n.2236del
n.6653del
n.6098del
c.3856del (p.Ser1286LeufsTer?)
c.*4002del (n.*4002del)
c.*3925del (n.*3925del)
c.*4230del (n.*4230del)
c.*3961del (n.*3961del)
c.3562del (p.Ser1188LeufsTer?)
c.2722+462del
c.3913del (p.Ser1305LeufsTer?)
c.2892del
n.987del
n.3197del
n.243del
n.4020del
c.4030del (p.Ser1344LeufsTer?)
c.4009del (p.Ser1337LeufsTer?)
c.3991del (p.Ser1331LeufsTer?)
c.3973del (p.Ser1325LeufsTer?)
c.3934del (p.Ser1312LeufsTer?)
c.3895del (p.Ser1299LeufsTer?)
c.3619del (p.Ser1207LeufsTer?)
c.3580del (p.Ser1194LeufsTer?)
c.3970del (p.Ser1324LeufsTer?)
c.3877del (p.Ser1293LeufsTer?)
c.3352del (p.Ser1118LeufsTer?)
c.3667del (p.Ser1223LeufsTer?)
n.8239del
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.9475618T>ACA351691658SETD5n.2811T>A
c.3952T>A (p.Ser1318Thr)
n.4845T>A
n.2236T>A
n.6653T>A
n.6098T>A
c.3856T>A (p.Ser1286Thr)
c.*4002T>A (n.*4002T>A)
c.*3925T>A (n.*3925T>A)
c.*4230T>A (n.*4230T>A)
c.*3961T>A (n.*3961T>A)
c.3562T>A (p.Ser1188Thr)
c.2722+462T>A
c.3913T>A (p.Ser1305Thr)
c.2892T>A
n.987T>A
n.3197T>A
n.243T>A
n.4020T>A
c.4030T>A (p.Ser1344Thr)
c.4009T>A (p.Ser1337Thr)
c.3991T>A (p.Ser1331Thr)
c.3973T>A (p.Ser1325Thr)
c.3934T>A (p.Ser1312Thr)
c.3895T>A (p.Ser1299Thr)
c.3619T>A (p.Ser1207Thr)
c.3580T>A (p.Ser1194Thr)
c.3970T>A (p.Ser1324Thr)
c.3877T>A (p.Ser1293Thr)
c.3352T>A (p.Ser1118Thr)
c.3667T>A (p.Ser1223Thr)
n.8239T>A
3g.9475618T>CCA351691676SETD5n.2811T>C
c.3952T>C (p.Ser1318Pro)
n.4845T>C
n.2236T>C
n.6653T>C
n.6098T>C
c.3856T>C (p.Ser1286Pro)
c.*4002T>C (n.*4002T>C)
c.*3925T>C (n.*3925T>C)
c.*4230T>C (n.*4230T>C)
c.*3961T>C (n.*3961T>C)
c.3562T>C (p.Ser1188Pro)
c.2722+462T>C
c.3913T>C (p.Ser1305Pro)
c.2892T>C
n.987T>C
n.3197T>C
n.243T>C
n.4020T>C
c.4030T>C (p.Ser1344Pro)
c.4009T>C (p.Ser1337Pro)
c.3991T>C (p.Ser1331Pro)
c.3973T>C (p.Ser1325Pro)
c.3934T>C (p.Ser1312Pro)
c.3895T>C (p.Ser1299Pro)
c.3619T>C (p.Ser1207Pro)
c.3580T>C (p.Ser1194Pro)
c.3970T>C (p.Ser1324Pro)
c.3877T>C (p.Ser1293Pro)
c.3352T>C (p.Ser1118Pro)
c.3667T>C (p.Ser1223Pro)
n.8239T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.9475618T>GCA351691693SETD5n.2811T>G
c.3952T>G (p.Ser1318Ala)
n.4845T>G
n.2236T>G
n.6653T>G
n.6098T>G
c.3856T>G (p.Ser1286Ala)
c.*4002T>G (n.*4002T>G)
c.*3925T>G (n.*3925T>G)
c.*4230T>G (n.*4230T>G)
c.*3961T>G (n.*3961T>G)
c.3562T>G (p.Ser1188Ala)
c.2722+462T>G
c.3913T>G (p.Ser1305Ala)
c.2892T>G
n.987T>G
n.3197T>G
n.243T>G
n.4020T>G
c.4030T>G (p.Ser1344Ala)
c.4009T>G (p.Ser1337Ala)
c.3991T>G (p.Ser1331Ala)
c.3973T>G (p.Ser1325Ala)
c.3934T>G (p.Ser1312Ala)
c.3895T>G (p.Ser1299Ala)
c.3619T>G (p.Ser1207Ala)
c.3580T>G (p.Ser1194Ala)
c.3970T>G (p.Ser1324Ala)
c.3877T>G (p.Ser1293Ala)
c.3352T>G (p.Ser1118Ala)
c.3667T>G (p.Ser1223Ala)
n.8239T>G
3g.9475618T=CA1344742513SETD5n.2811T=
c.3952T= (p.Ser1318=)
n.4845T=
n.2236T=
n.6653T=
n.6098T=
c.3856T= (p.Ser1286=)
c.*4002T= (n.*4002T=)
c.*3925T= (n.*3925T=)
c.*4230T= (n.*4230T=)
c.*3961T= (n.*3961T=)
c.3562T= (p.Ser1188=)
c.2722+462T=
c.3913T= (p.Ser1305=)
c.2892T=
n.987T=
n.3197T=
n.243T=
n.4020T=
c.4030T= (p.Ser1344=)
c.4009T= (p.Ser1337=)
c.3991T= (p.Ser1331=)
c.3973T= (p.Ser1325=)
c.3934T= (p.Ser1312=)
c.3895T= (p.Ser1299=)
c.3619T= (p.Ser1207=)
c.3580T= (p.Ser1194=)
c.3970T= (p.Ser1324=)
c.3877T= (p.Ser1293=)
c.3352T= (p.Ser1118=)
c.3667T= (p.Ser1223=)
n.8239T=
3g.9475619C>ACA351691704SETD5n.2812C>A
c.3953C>A (p.Ser1318Tyr)
n.4846C>A
n.2237C>A
n.6654C>A
n.6099C>A
c.3857C>A (p.Ser1286Tyr)
c.*4003C>A (n.*4003C>A)
c.*3926C>A (n.*3926C>A)
c.*4231C>A (n.*4231C>A)
c.*3962C>A (n.*3962C>A)
c.3563C>A (p.Ser1188Tyr)
c.2722+463C>A
c.3914C>A (p.Ser1305Tyr)
c.2893C>A
n.988C>A
n.3198C>A
n.244C>A
n.4021C>A
c.4031C>A (p.Ser1344Tyr)
c.4010C>A (p.Ser1337Tyr)
c.3992C>A (p.Ser1331Tyr)
c.3974C>A (p.Ser1325Tyr)
c.3935C>A (p.Ser1312Tyr)
c.3896C>A (p.Ser1299Tyr)
c.3620C>A (p.Ser1207Tyr)
c.3581C>A (p.Ser1194Tyr)
c.3971C>A (p.Ser1324Tyr)
c.3878C>A (p.Ser1293Tyr)
c.3353C>A (p.Ser1118Tyr)
c.3668C>A (p.Ser1223Tyr)
n.8240C>A
3g.9475619C>GCA351691715SETD5n.2812C>G
c.3953C>G (p.Ser1318Cys)
n.4846C>G
n.2237C>G
n.6654C>G
n.6099C>G
c.3857C>G (p.Ser1286Cys)
c.*4003C>G (n.*4003C>G)
c.*3926C>G (n.*3926C>G)
c.*4231C>G (n.*4231C>G)
c.*3962C>G (n.*3962C>G)
c.3563C>G (p.Ser1188Cys)
c.2722+463C>G
c.3914C>G (p.Ser1305Cys)
c.2893C>G
n.988C>G
n.3198C>G
n.244C>G
n.4021C>G
c.4031C>G (p.Ser1344Cys)
c.4010C>G (p.Ser1337Cys)
c.3992C>G (p.Ser1331Cys)
c.3974C>G (p.Ser1325Cys)
c.3935C>G (p.Ser1312Cys)
c.3896C>G (p.Ser1299Cys)
c.3620C>G (p.Ser1207Cys)
c.3581C>G (p.Ser1194Cys)
c.3971C>G (p.Ser1324Cys)
c.3878C>G (p.Ser1293Cys)
c.3353C>G (p.Ser1118Cys)
c.3668C>G (p.Ser1223Cys)
n.8240C>G
3g.9475619C>TCA351691730SETD5n.2812C>T
c.3953C>T (p.Ser1318Phe)
n.4846C>T
n.2237C>T
n.6654C>T
n.6099C>T
c.3857C>T (p.Ser1286Phe)
c.*4003C>T (n.*4003C>T)
c.*3926C>T (n.*3926C>T)
c.*4231C>T (n.*4231C>T)
c.*3962C>T (n.*3962C>T)
c.3563C>T (p.Ser1188Phe)
c.2722+463C>T
c.3914C>T (p.Ser1305Phe)
c.2893C>T
n.988C>T
n.3198C>T
n.244C>T
n.4021C>T
c.4031C>T (p.Ser1344Phe)
c.4010C>T (p.Ser1337Phe)
c.3992C>T (p.Ser1331Phe)
c.3974C>T (p.Ser1325Phe)
c.3935C>T (p.Ser1312Phe)
c.3896C>T (p.Ser1299Phe)
c.3620C>T (p.Ser1207Phe)
c.3581C>T (p.Ser1194Phe)
c.3971C>T (p.Ser1324Phe)
c.3878C>T (p.Ser1293Phe)
c.3353C>T (p.Ser1118Phe)
c.3668C>T (p.Ser1223Phe)
n.8240C>T
3g.9475620T>ACA432528666SETD5n.2813T>A
c.3954T>A (p.Ser1318=)
n.4847T>A
n.2238T>A
n.6655T>A
n.6100T>A
c.3858T>A (p.Ser1286=)
c.*4004T>A (n.*4004T>A)
c.*3927T>A (n.*3927T>A)
c.*4232T>A (n.*4232T>A)
c.*3963T>A (n.*3963T>A)
c.3564T>A (p.Ser1188=)
c.2722+464T>A
c.3915T>A (p.Ser1305=)
c.2894T>A
n.989T>A
n.3199T>A
n.245T>A
n.4022T>A
c.4032T>A (p.Ser1344=)
c.4011T>A (p.Ser1337=)
c.3993T>A (p.Ser1331=)
c.3975T>A (p.Ser1325=)
c.3936T>A (p.Ser1312=)
c.3897T>A (p.Ser1299=)
c.3621T>A (p.Ser1207=)
c.3582T>A (p.Ser1194=)
c.3972T>A (p.Ser1324=)
c.3879T>A (p.Ser1293=)
c.3354T>A (p.Ser1118=)
c.3669T>A (p.Ser1223=)
n.8241T>A
3g.9475620T>CCA432528665SETD5n.2813T>C
c.3954T>C (p.Ser1318=)
n.4847T>C
n.2238T>C
n.6655T>C
n.6100T>C
c.3858T>C (p.Ser1286=)
c.*4004T>C (n.*4004T>C)
c.*3927T>C (n.*3927T>C)
c.*4232T>C (n.*4232T>C)
c.*3963T>C (n.*3963T>C)
c.3564T>C (p.Ser1188=)
c.2722+464T>C
c.3915T>C (p.Ser1305=)
c.2894T>C
n.989T>C
n.3199T>C
n.245T>C
n.4022T>C
c.4032T>C (p.Ser1344=)
c.4011T>C (p.Ser1337=)
c.3993T>C (p.Ser1331=)
c.3975T>C (p.Ser1325=)
c.3936T>C (p.Ser1312=)
c.3897T>C (p.Ser1299=)
c.3621T>C (p.Ser1207=)
c.3582T>C (p.Ser1194=)
c.3972T>C (p.Ser1324=)
c.3879T>C (p.Ser1293=)
c.3354T>C (p.Ser1118=)
c.3669T>C (p.Ser1223=)
n.8241T>C
3g.9475620T>GCA432528664SETD5n.2813T>G
c.3954T>G (p.Ser1318=)
n.4847T>G
n.2238T>G
n.6655T>G
n.6100T>G
c.3858T>G (p.Ser1286=)
c.*4004T>G (n.*4004T>G)
c.*3927T>G (n.*3927T>G)
c.*4232T>G (n.*4232T>G)
c.*3963T>G (n.*3963T>G)
c.3564T>G (p.Ser1188=)
c.2722+464T>G
c.3915T>G (p.Ser1305=)
c.2894T>G
n.989T>G
n.3199T>G
n.245T>G
n.4022T>G
c.4032T>G (p.Ser1344=)
c.4011T>G (p.Ser1337=)
c.3993T>G (p.Ser1331=)
c.3975T>G (p.Ser1325=)
c.3936T>G (p.Ser1312=)
c.3897T>G (p.Ser1299=)
c.3621T>G (p.Ser1207=)
c.3582T>G (p.Ser1194=)
c.3972T>G (p.Ser1324=)
c.3879T>G (p.Ser1293=)
c.3354T>G (p.Ser1118=)
c.3669T>G (p.Ser1223=)
n.8241T>G
3g.9475621C>ACA351691743SETD5n.2814C>A
c.3955C>A (p.His1319Asn)
n.4848C>A
n.2239C>A
n.6656C>A
n.6101C>A
c.3859C>A (p.His1287Asn)
c.*4005C>A (n.*4005C>A)
c.*3928C>A (n.*3928C>A)
c.*4233C>A (n.*4233C>A)
c.*3964C>A (n.*3964C>A)
c.3565C>A (p.His1189Asn)
c.2722+465C>A
c.3916C>A (p.His1306Asn)
c.2895C>A
n.990C>A
n.3200C>A
n.246C>A
n.4023C>A
c.4033C>A (p.His1345Asn)
c.4012C>A (p.His1338Asn)
c.3994C>A (p.His1332Asn)
c.3976C>A (p.His1326Asn)
c.3937C>A (p.His1313Asn)
c.3898C>A (p.His1300Asn)
c.3622C>A (p.His1208Asn)
c.3583C>A (p.His1195Asn)
c.3973C>A (p.His1325Asn)
c.3880C>A (p.His1294Asn)
c.3355C>A (p.His1119Asn)
c.3670C>A (p.His1224Asn)
n.8242C>A
3g.9475621C=CA1344742527SETD5n.2814C=
c.3955C= (p.His1319=)
n.4848C=
n.2239C=
n.6656C=
n.6101C=
c.3859C= (p.His1287=)
c.*4005C= (n.*4005C=)
c.*3928C= (n.*3928C=)
c.*4233C= (n.*4233C=)
c.*3964C= (n.*3964C=)
c.3565C= (p.His1189=)
c.2722+465C=
c.3916C= (p.His1306=)
c.2895C=
n.990C=
n.3200C=
n.246C=
n.4023C=
c.4033C= (p.His1345=)
c.4012C= (p.His1338=)
c.3994C= (p.His1332=)
c.3976C= (p.His1326=)
c.3937C= (p.His1313=)
c.3898C= (p.His1300=)
c.3622C= (p.His1208=)
c.3583C= (p.His1195=)
c.3973C= (p.His1325=)
c.3880C= (p.His1294=)
c.3355C= (p.His1119=)
c.3670C= (p.His1224=)
n.8242C=
3g.9475621C>GCA351691748SETD5n.2814C>G
c.3955C>G (p.His1319Asp)
n.4848C>G
n.2239C>G
n.6656C>G
n.6101C>G
c.3859C>G (p.His1287Asp)
c.*4005C>G (n.*4005C>G)
c.*3928C>G (n.*3928C>G)
c.*4233C>G (n.*4233C>G)
c.*3964C>G (n.*3964C>G)
c.3565C>G (p.His1189Asp)
c.2722+465C>G
c.3916C>G (p.His1306Asp)
c.2895C>G
n.990C>G
n.3200C>G
n.246C>G
n.4023C>G
c.4033C>G (p.His1345Asp)
c.4012C>G (p.His1338Asp)
c.3994C>G (p.His1332Asp)
c.3976C>G (p.His1326Asp)
c.3937C>G (p.His1313Asp)
c.3898C>G (p.His1300Asp)
c.3622C>G (p.His1208Asp)
c.3583C>G (p.His1195Asp)
c.3973C>G (p.His1325Asp)
c.3880C>G (p.His1294Asp)
c.3355C>G (p.His1119Asp)
c.3670C>G (p.His1224Asp)
n.8242C>G
3g.9475621C>TCA2239820SETD5n.2814C>T
c.3955C>T (p.His1319Tyr)
n.4848C>T
n.2239C>T
n.6656C>T
n.6101C>T
c.3859C>T (p.His1287Tyr)
c.*4005C>T (n.*4005C>T)
c.*3928C>T (n.*3928C>T)
c.*4233C>T (n.*4233C>T)
c.*3964C>T (n.*3964C>T)
c.3565C>T (p.His1189Tyr)
c.2722+465C>T
c.3916C>T (p.His1306Tyr)
c.2895C>T
n.990C>T
n.3200C>T
n.246C>T
n.4023C>T
c.4033C>T (p.His1345Tyr)
c.4012C>T (p.His1338Tyr)
c.3994C>T (p.His1332Tyr)
c.3976C>T (p.His1326Tyr)
c.3937C>T (p.His1313Tyr)
c.3898C>T (p.His1300Tyr)
c.3622C>T (p.His1208Tyr)
c.3583C>T (p.His1195Tyr)
c.3973C>T (p.His1325Tyr)
c.3880C>T (p.His1294Tyr)
c.3355C>T (p.His1119Tyr)
c.3670C>T (p.His1224Tyr)
n.8242C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
3g.9475622A>CCA351691761SETD5n.2815A>C
c.3956A>C (p.His1319Pro)
n.4849A>C
n.2240A>C
n.6657A>C
n.6102A>C
c.3860A>C (p.His1287Pro)
c.*4006A>C (n.*4006A>C)
c.*3929A>C (n.*3929A>C)
c.*4234A>C (n.*4234A>C)
c.*3965A>C (n.*3965A>C)
c.3566A>C (p.His1189Pro)
c.2722+466A>C
c.3917A>C (p.His1306Pro)
c.2896A>C
n.991A>C
n.3201A>C
n.247A>C
n.4024A>C
c.4034A>C (p.His1345Pro)
c.4013A>C (p.His1338Pro)
c.3995A>C (p.His1332Pro)
c.3977A>C (p.His1326Pro)
c.3938A>C (p.His1313Pro)
c.3899A>C (p.His1300Pro)
c.3623A>C (p.His1208Pro)
c.3584A>C (p.His1195Pro)
c.3974A>C (p.His1325Pro)
c.3881A>C (p.His1294Pro)
c.3356A>C (p.His1119Pro)
c.3671A>C (p.His1224Pro)
n.8243A>C
3g.9475622A>GCA351691762SETD5n.2815A>G
c.3956A>G (p.His1319Arg)
n.4849A>G
n.2240A>G
n.6657A>G
n.6102A>G
c.3860A>G (p.His1287Arg)
c.*4006A>G (n.*4006A>G)
c.*3929A>G (n.*3929A>G)
c.*4234A>G (n.*4234A>G)
c.*3965A>G (n.*3965A>G)
c.3566A>G (p.His1189Arg)
c.2722+466A>G
c.3917A>G (p.His1306Arg)
c.2896A>G
n.991A>G
n.3201A>G
n.247A>G
n.4024A>G
c.4034A>G (p.His1345Arg)
c.4013A>G (p.His1338Arg)
c.3995A>G (p.His1332Arg)
c.3977A>G (p.His1326Arg)
c.3938A>G (p.His1313Arg)
c.3899A>G (p.His1300Arg)
c.3623A>G (p.His1208Arg)
c.3584A>G (p.His1195Arg)
c.3974A>G (p.His1325Arg)
c.3881A>G (p.His1294Arg)
c.3356A>G (p.His1119Arg)
c.3671A>G (p.His1224Arg)
n.8243A>G
3g.9475622A>TCA351691767SETD5n.2815A>T
c.3956A>T (p.His1319Leu)
n.4849A>T
n.2240A>T
n.6657A>T
n.6102A>T
c.3860A>T (p.His1287Leu)
c.*4006A>T (n.*4006A>T)
c.*3929A>T (n.*3929A>T)
c.*4234A>T (n.*4234A>T)
c.*3965A>T (n.*3965A>T)
c.3566A>T (p.His1189Leu)
c.2722+466A>T
c.3917A>T (p.His1306Leu)
c.2896A>T
n.991A>T
n.3201A>T
n.247A>T
n.4024A>T
c.4034A>T (p.His1345Leu)
c.4013A>T (p.His1338Leu)
c.3995A>T (p.His1332Leu)
c.3977A>T (p.His1326Leu)
c.3938A>T (p.His1313Leu)
c.3899A>T (p.His1300Leu)
c.3623A>T (p.His1208Leu)
c.3584A>T (p.His1195Leu)
c.3974A>T (p.His1325Leu)
c.3881A>T (p.His1294Leu)
c.3356A>T (p.His1119Leu)
c.3671A>T (p.His1224Leu)
n.8243A>T
3g.9475623C>ACA351691768SETD5n.2816C>A
c.3957C>A (p.His1319Gln)
n.4850C>A
n.2241C>A
n.6658C>A
n.6103C>A
c.3861C>A (p.His1287Gln)
c.*4007C>A (n.*4007C>A)
c.*3930C>A (n.*3930C>A)
c.*4235C>A (n.*4235C>A)
c.*3966C>A (n.*3966C>A)
c.3567C>A (p.His1189Gln)
c.2722+467C>A
c.3918C>A (p.His1306Gln)
c.2897C>A
n.992C>A
n.3202C>A
n.248C>A
n.4025C>A
c.4035C>A (p.His1345Gln)
c.4014C>A (p.His1338Gln)
c.3996C>A (p.His1332Gln)
c.3978C>A (p.His1326Gln)
c.3939C>A (p.His1313Gln)
c.3900C>A (p.His1300Gln)
c.3624C>A (p.His1208Gln)
c.3585C>A (p.His1195Gln)
c.3975C>A (p.His1325Gln)
c.3882C>A (p.His1294Gln)
c.3357C>A (p.His1119Gln)
c.3672C>A (p.His1224Gln)
n.8244C>A
3g.9475623C=CA1344742531SETD5n.2816C=
c.3957C= (p.His1319=)
n.4850C=
n.2241C=
n.6658C=
n.6103C=
c.3861C= (p.His1287=)
c.*4007C= (n.*4007C=)
c.*3930C= (n.*3930C=)
c.*4235C= (n.*4235C=)
c.*3966C= (n.*3966C=)
c.3567C= (p.His1189=)
c.2722+467C=
c.3918C= (p.His1306=)
c.2897C=
n.992C=
n.3202C=
n.248C=
n.4025C=
c.4035C= (p.His1345=)
c.4014C= (p.His1338=)
c.3996C= (p.His1332=)
c.3978C= (p.His1326=)
c.3939C= (p.His1313=)
c.3900C= (p.His1300=)
c.3624C= (p.His1208=)
c.3585C= (p.His1195=)
c.3975C= (p.His1325=)
c.3882C= (p.His1294=)
c.3357C= (p.His1119=)
c.3672C= (p.His1224=)
n.8244C=
3g.9475623C>GCA351691770SETD5n.2816C>G
c.3957C>G (p.His1319Gln)
n.4850C>G
n.2241C>G
n.6658C>G
n.6103C>G
c.3861C>G (p.His1287Gln)
c.*4007C>G (n.*4007C>G)
c.*3930C>G (n.*3930C>G)
c.*4235C>G (n.*4235C>G)
c.*3966C>G (n.*3966C>G)
c.3567C>G (p.His1189Gln)
c.2722+467C>G
c.3918C>G (p.His1306Gln)
c.2897C>G
n.992C>G
n.3202C>G
n.248C>G
n.4025C>G
c.4035C>G (p.His1345Gln)
c.4014C>G (p.His1338Gln)
c.3996C>G (p.His1332Gln)
c.3978C>G (p.His1326Gln)
c.3939C>G (p.His1313Gln)
c.3900C>G (p.His1300Gln)
c.3624C>G (p.His1208Gln)
c.3585C>G (p.His1195Gln)
c.3975C>G (p.His1325Gln)
c.3882C>G (p.His1294Gln)
c.3357C>G (p.His1119Gln)
c.3672C>G (p.His1224Gln)
n.8244C>G
 gnomAD v4
3g.9475623C>TCA69951944SETD5n.2816C>T
c.3957C>T (p.His1319=)
n.4850C>T
n.2241C>T
n.6658C>T
n.6103C>T
c.3861C>T (p.His1287=)
c.*4007C>T (n.*4007C>T)
c.*3930C>T (n.*3930C>T)
c.*4235C>T (n.*4235C>T)
c.*3966C>T (n.*3966C>T)
c.3567C>T (p.His1189=)
c.2722+467C>T
c.3918C>T (p.His1306=)
c.2897C>T
n.992C>T
n.3202C>T
n.248C>T
n.4025C>T
c.4035C>T (p.His1345=)
c.4014C>T (p.His1338=)
c.3996C>T (p.His1332=)
c.3978C>T (p.His1326=)
c.3939C>T (p.His1313=)
c.3900C>T (p.His1300=)
c.3624C>T (p.His1208=)
c.3585C>T (p.His1195=)
c.3975C>T (p.His1325=)
c.3882C>T (p.His1294=)
c.3357C>T (p.His1119=)
c.3672C>T (p.His1224=)
n.8244C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.9475624G>ACA2239821SETD5n.2817G>A
c.3958G>A (p.Gly1320Ser)
n.4851G>A
n.2242G>A
n.6659G>A
n.6104G>A
c.3862G>A (p.Gly1288Ser)
c.*4008G>A (n.*4008G>A)
c.*3931G>A (n.*3931G>A)
c.*4236G>A (n.*4236G>A)
c.*3967G>A (n.*3967G>A)
c.3568G>A (p.Gly1190Ser)
c.2722+468G>A
c.3919G>A (p.Gly1307Ser)
c.2898G>A
n.993G>A
n.3203G>A
n.249G>A
n.4026G>A
c.4036G>A (p.Gly1346Ser)
c.4015G>A (p.Gly1339Ser)
c.3997G>A (p.Gly1333Ser)
c.3979G>A (p.Gly1327Ser)
c.3940G>A (p.Gly1314Ser)
c.3901G>A (p.Gly1301Ser)
c.3625G>A (p.Gly1209Ser)
c.3586G>A (p.Gly1196Ser)
c.3976G>A (p.Gly1326Ser)
c.3883G>A (p.Gly1295Ser)
c.3358G>A (p.Gly1120Ser)
c.3673G>A (p.Gly1225Ser)
n.8245G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475624G>CCA351691774SETD5n.2817G>C
c.3958G>C (p.Gly1320Arg)
n.4851G>C
n.2242G>C
n.6659G>C
n.6104G>C
c.3862G>C (p.Gly1288Arg)
c.*4008G>C (n.*4008G>C)
c.*3931G>C (n.*3931G>C)
c.*4236G>C (n.*4236G>C)
c.*3967G>C (n.*3967G>C)
c.3568G>C (p.Gly1190Arg)
c.2722+468G>C
c.3919G>C (p.Gly1307Arg)
c.2898G>C
n.993G>C
n.3203G>C
n.249G>C
n.4026G>C
c.4036G>C (p.Gly1346Arg)
c.4015G>C (p.Gly1339Arg)
c.3997G>C (p.Gly1333Arg)
c.3979G>C (p.Gly1327Arg)
c.3940G>C (p.Gly1314Arg)
c.3901G>C (p.Gly1301Arg)
c.3625G>C (p.Gly1209Arg)
c.3586G>C (p.Gly1196Arg)
c.3976G>C (p.Gly1326Arg)
c.3883G>C (p.Gly1295Arg)
c.3358G>C (p.Gly1120Arg)
c.3673G>C (p.Gly1225Arg)
n.8245G>C
 gnomAD v4
3g.9475624G=CA1344742536SETD5n.2817G=
c.3958G= (p.Gly1320=)
n.4851G=
n.2242G=
n.6659G=
n.6104G=
c.3862G= (p.Gly1288=)
c.*4008G= (n.*4008G=)
c.*3931G= (n.*3931G=)
c.*4236G= (n.*4236G=)
c.*3967G= (n.*3967G=)
c.3568G= (p.Gly1190=)
c.2722+468G=
c.3919G= (p.Gly1307=)
c.2898G=
n.993G=
n.3203G=
n.249G=
n.4026G=
c.4036G= (p.Gly1346=)
c.4015G= (p.Gly1339=)
c.3997G= (p.Gly1333=)
c.3979G= (p.Gly1327=)
c.3940G= (p.Gly1314=)
c.3901G= (p.Gly1301=)
c.3625G= (p.Gly1209=)
c.3586G= (p.Gly1196=)
c.3976G= (p.Gly1326=)
c.3883G= (p.Gly1295=)
c.3358G= (p.Gly1120=)
c.3673G= (p.Gly1225=)
n.8245G=
3g.9475624G>TCA351691776SETD5n.2817G>T
c.3958G>T (p.Gly1320Cys)
n.4851G>T
n.2242G>T
n.6659G>T
n.6104G>T
c.3862G>T (p.Gly1288Cys)
c.*4008G>T (n.*4008G>T)
c.*3931G>T (n.*3931G>T)
c.*4236G>T (n.*4236G>T)
c.*3967G>T (n.*3967G>T)
c.3568G>T (p.Gly1190Cys)
c.2722+468G>T
c.3919G>T (p.Gly1307Cys)
c.2898G>T
n.993G>T
n.3203G>T
n.249G>T
n.4026G>T
c.4036G>T (p.Gly1346Cys)
c.4015G>T (p.Gly1339Cys)
c.3997G>T (p.Gly1333Cys)
c.3979G>T (p.Gly1327Cys)
c.3940G>T (p.Gly1314Cys)
c.3901G>T (p.Gly1301Cys)
c.3625G>T (p.Gly1209Cys)
c.3586G>T (p.Gly1196Cys)
c.3976G>T (p.Gly1326Cys)
c.3883G>T (p.Gly1295Cys)
c.3358G>T (p.Gly1120Cys)
c.3673G>T (p.Gly1225Cys)
n.8245G>T
 gnomAD v4
3g.9475625G>ACA351691788SETD5n.2818G>A
c.3959G>A (p.Gly1320Asp)
n.4852G>A
n.2243G>A
n.6660G>A
n.6105G>A
c.3863G>A (p.Gly1288Asp)
c.*4009G>A (n.*4009G>A)
c.*3932G>A (n.*3932G>A)
c.*4237G>A (n.*4237G>A)
c.*3968G>A (n.*3968G>A)
c.3569G>A (p.Gly1190Asp)
c.2722+469G>A
c.3920G>A (p.Gly1307Asp)
c.2899G>A
n.994G>A
n.3204G>A
n.250G>A
n.4027G>A
c.4037G>A (p.Gly1346Asp)
c.4016G>A (p.Gly1339Asp)
c.3998G>A (p.Gly1333Asp)
c.3980G>A (p.Gly1327Asp)
c.3941G>A (p.Gly1314Asp)
c.3902G>A (p.Gly1301Asp)
c.3626G>A (p.Gly1209Asp)
c.3587G>A (p.Gly1196Asp)
c.3977G>A (p.Gly1326Asp)
c.3884G>A (p.Gly1295Asp)
c.3359G>A (p.Gly1120Asp)
c.3674G>A (p.Gly1225Asp)
n.8246G>A
 dbSNP gnomAD v3 gnomAD v4
3g.9475625G>CCA351691789SETD5n.2818G>C
c.3959G>C (p.Gly1320Ala)
n.4852G>C
n.2243G>C
n.6660G>C
n.6105G>C
c.3863G>C (p.Gly1288Ala)
c.*4009G>C (n.*4009G>C)
c.*3932G>C (n.*3932G>C)
c.*4237G>C (n.*4237G>C)
c.*3968G>C (n.*3968G>C)
c.3569G>C (p.Gly1190Ala)
c.2722+469G>C
c.3920G>C (p.Gly1307Ala)
c.2899G>C
n.994G>C
n.3204G>C
n.250G>C
n.4027G>C
c.4037G>C (p.Gly1346Ala)
c.4016G>C (p.Gly1339Ala)
c.3998G>C (p.Gly1333Ala)
c.3980G>C (p.Gly1327Ala)
c.3941G>C (p.Gly1314Ala)
c.3902G>C (p.Gly1301Ala)
c.3626G>C (p.Gly1209Ala)
c.3587G>C (p.Gly1196Ala)
c.3977G>C (p.Gly1326Ala)
c.3884G>C (p.Gly1295Ala)
c.3359G>C (p.Gly1120Ala)
c.3674G>C (p.Gly1225Ala)
n.8246G>C
3g.9475625G=CA1344742541SETD5n.2818G=
c.3959G= (p.Gly1320=)
n.4852G=
n.2243G=
n.6660G=
n.6105G=
c.3863G= (p.Gly1288=)
c.*4009G= (n.*4009G=)
c.*3932G= (n.*3932G=)
c.*4237G= (n.*4237G=)
c.*3968G= (n.*3968G=)
c.3569G= (p.Gly1190=)
c.2722+469G=
c.3920G= (p.Gly1307=)
c.2899G=
n.994G=
n.3204G=
n.250G=
n.4027G=
c.4037G= (p.Gly1346=)
c.4016G= (p.Gly1339=)
c.3998G= (p.Gly1333=)
c.3980G= (p.Gly1327=)
c.3941G= (p.Gly1314=)
c.3902G= (p.Gly1301=)
c.3626G= (p.Gly1209=)
c.3587G= (p.Gly1196=)
c.3977G= (p.Gly1326=)
c.3884G= (p.Gly1295=)
c.3359G= (p.Gly1120=)
c.3674G= (p.Gly1225=)
n.8246G=
3g.9475625G>TCA351691790SETD5n.2818G>T
c.3959G>T (p.Gly1320Val)
n.4852G>T
n.2243G>T
n.6660G>T
n.6105G>T
c.3863G>T (p.Gly1288Val)
c.*4009G>T (n.*4009G>T)
c.*3932G>T (n.*3932G>T)
c.*4237G>T (n.*4237G>T)
c.*3968G>T (n.*3968G>T)
c.3569G>T (p.Gly1190Val)
c.2722+469G>T
c.3920G>T (p.Gly1307Val)
c.2899G>T
n.994G>T
n.3204G>T
n.250G>T
n.4027G>T
c.4037G>T (p.Gly1346Val)
c.4016G>T (p.Gly1339Val)
c.3998G>T (p.Gly1333Val)
c.3980G>T (p.Gly1327Val)
c.3941G>T (p.Gly1314Val)
c.3902G>T (p.Gly1301Val)
c.3626G>T (p.Gly1209Val)
c.3587G>T (p.Gly1196Val)
c.3977G>T (p.Gly1326Val)
c.3884G>T (p.Gly1295Val)
c.3359G>T (p.Gly1120Val)
c.3674G>T (p.Gly1225Val)
n.8246G>T
3g.9475626T>ACA432528690SETD5n.2819T>A
c.3960T>A (p.Gly1320=)
n.4853T>A
n.2244T>A
n.6661T>A
n.6106T>A
c.3864T>A (p.Gly1288=)
c.*4010T>A (n.*4010T>A)
c.*3933T>A (n.*3933T>A)
c.*4238T>A (n.*4238T>A)
c.*3969T>A (n.*3969T>A)
c.3570T>A (p.Gly1190=)
c.2722+470T>A
c.3921T>A (p.Gly1307=)
c.2900T>A
n.995T>A
n.3205T>A
n.251T>A
n.4028T>A
c.4038T>A (p.Gly1346=)
c.4017T>A (p.Gly1339=)
c.3999T>A (p.Gly1333=)
c.3981T>A (p.Gly1327=)
c.3942T>A (p.Gly1314=)
c.3903T>A (p.Gly1301=)
c.3627T>A (p.Gly1209=)
c.3588T>A (p.Gly1196=)
c.3978T>A (p.Gly1326=)
c.3885T>A (p.Gly1295=)
c.3360T>A (p.Gly1120=)
c.3675T>A (p.Gly1225=)
n.8247T>A
3g.9475626T>CCA432528688SETD5n.2819T>C
c.3960T>C (p.Gly1320=)
n.4853T>C
n.2244T>C
n.6661T>C
n.6106T>C
c.3864T>C (p.Gly1288=)
c.*4010T>C (n.*4010T>C)
c.*3933T>C (n.*3933T>C)
c.*4238T>C (n.*4238T>C)
c.*3969T>C (n.*3969T>C)
c.3570T>C (p.Gly1190=)
c.2722+470T>C
c.3921T>C (p.Gly1307=)
c.2900T>C
n.995T>C
n.3205T>C
n.251T>C
n.4028T>C
c.4038T>C (p.Gly1346=)
c.4017T>C (p.Gly1339=)
c.3999T>C (p.Gly1333=)
c.3981T>C (p.Gly1327=)
c.3942T>C (p.Gly1314=)
c.3903T>C (p.Gly1301=)
c.3627T>C (p.Gly1209=)
c.3588T>C (p.Gly1196=)
c.3978T>C (p.Gly1326=)
c.3885T>C (p.Gly1295=)
c.3360T>C (p.Gly1120=)
c.3675T>C (p.Gly1225=)
n.8247T>C
3g.9475626T>GCA432528689SETD5n.2819T>G
c.3960T>G (p.Gly1320=)
n.4853T>G
n.2244T>G
n.6661T>G
n.6106T>G
c.3864T>G (p.Gly1288=)
c.*4010T>G (n.*4010T>G)
c.*3933T>G (n.*3933T>G)
c.*4238T>G (n.*4238T>G)
c.*3969T>G (n.*3969T>G)
c.3570T>G (p.Gly1190=)
c.2722+470T>G
c.3921T>G (p.Gly1307=)
c.2900T>G
n.995T>G
n.3205T>G
n.251T>G
n.4028T>G
c.4038T>G (p.Gly1346=)
c.4017T>G (p.Gly1339=)
c.3999T>G (p.Gly1333=)
c.3981T>G (p.Gly1327=)
c.3942T>G (p.Gly1314=)
c.3903T>G (p.Gly1301=)
c.3627T>G (p.Gly1209=)
c.3588T>G (p.Gly1196=)
c.3978T>G (p.Gly1326=)
c.3885T>G (p.Gly1295=)
c.3360T>G (p.Gly1120=)
c.3675T>G (p.Gly1225=)
n.8247T>G
3g.9475627T>ACA351691801SETD5n.2820T>A
c.3961T>A (p.Ser1321Thr)
n.4854T>A
n.2245T>A
n.6662T>A
n.6107T>A
c.3865T>A (p.Ser1289Thr)
c.*4011T>A (n.*4011T>A)
c.*3934T>A (n.*3934T>A)
c.*4239T>A (n.*4239T>A)
c.*3970T>A (n.*3970T>A)
c.3571T>A (p.Ser1191Thr)
c.2722+471T>A
c.3922T>A (p.Ser1308Thr)
c.2901T>A
n.996T>A
n.3206T>A
n.252T>A
n.4029T>A
c.4039T>A (p.Ser1347Thr)
c.4018T>A (p.Ser1340Thr)
c.4000T>A (p.Ser1334Thr)
c.3982T>A (p.Ser1328Thr)
c.3943T>A (p.Ser1315Thr)
c.3904T>A (p.Ser1302Thr)
c.3628T>A (p.Ser1210Thr)
c.3589T>A (p.Ser1197Thr)
c.3979T>A (p.Ser1327Thr)
c.3886T>A (p.Ser1296Thr)
c.3361T>A (p.Ser1121Thr)
c.3676T>A (p.Ser1226Thr)
n.8248T>A
3g.9475627T>CCA351691798SETD5n.2820T>C
c.3961T>C (p.Ser1321Pro)
n.4854T>C
n.2245T>C
n.6662T>C
n.6107T>C
c.3865T>C (p.Ser1289Pro)
c.*4011T>C (n.*4011T>C)
c.*3934T>C (n.*3934T>C)
c.*4239T>C (n.*4239T>C)
c.*3970T>C (n.*3970T>C)
c.3571T>C (p.Ser1191Pro)
c.2722+471T>C
c.3922T>C (p.Ser1308Pro)
c.2901T>C
n.996T>C
n.3206T>C
n.252T>C
n.4029T>C
c.4039T>C (p.Ser1347Pro)
c.4018T>C (p.Ser1340Pro)
c.4000T>C (p.Ser1334Pro)
c.3982T>C (p.Ser1328Pro)
c.3943T>C (p.Ser1315Pro)
c.3904T>C (p.Ser1302Pro)
c.3628T>C (p.Ser1210Pro)
c.3589T>C (p.Ser1197Pro)
c.3979T>C (p.Ser1327Pro)
c.3886T>C (p.Ser1296Pro)
c.3361T>C (p.Ser1121Pro)
c.3676T>C (p.Ser1226Pro)
n.8248T>C
3g.9475627T>GCA351691795SETD5n.2820T>G
c.3961T>G (p.Ser1321Ala)
n.4854T>G
n.2245T>G
n.6662T>G
n.6107T>G
c.3865T>G (p.Ser1289Ala)
c.*4011T>G (n.*4011T>G)
c.*3934T>G (n.*3934T>G)
c.*4239T>G (n.*4239T>G)
c.*3970T>G (n.*3970T>G)
c.3571T>G (p.Ser1191Ala)
c.2722+471T>G
c.3922T>G (p.Ser1308Ala)
c.2901T>G
n.996T>G
n.3206T>G
n.252T>G
n.4029T>G
c.4039T>G (p.Ser1347Ala)
c.4018T>G (p.Ser1340Ala)
c.4000T>G (p.Ser1334Ala)
c.3982T>G (p.Ser1328Ala)
c.3943T>G (p.Ser1315Ala)
c.3904T>G (p.Ser1302Ala)
c.3628T>G (p.Ser1210Ala)
c.3589T>G (p.Ser1197Ala)
c.3979T>G (p.Ser1327Ala)
c.3886T>G (p.Ser1296Ala)
c.3361T>G (p.Ser1121Ala)
c.3676T>G (p.Ser1226Ala)
n.8248T>G
3g.9475628C>ACA69951948SETD5n.2821C>A
c.3962C>A (p.Ser1321Tyr)
n.4855C>A
n.2246C>A
n.6663C>A
n.6108C>A
c.3866C>A (p.Ser1289Tyr)
c.*4012C>A (n.*4012C>A)
c.*3935C>A (n.*3935C>A)
c.*4240C>A (n.*4240C>A)
c.*3971C>A (n.*3971C>A)
c.3572C>A (p.Ser1191Tyr)
c.2722+472C>A
c.3923C>A (p.Ser1308Tyr)
c.2902C>A
n.997C>A
n.3207C>A
n.253C>A
n.4030C>A
c.4040C>A (p.Ser1347Tyr)
c.4019C>A (p.Ser1340Tyr)
c.4001C>A (p.Ser1334Tyr)
c.3983C>A (p.Ser1328Tyr)
c.3944C>A (p.Ser1315Tyr)
c.3905C>A (p.Ser1302Tyr)
c.3629C>A (p.Ser1210Tyr)
c.3590C>A (p.Ser1197Tyr)
c.3980C>A (p.Ser1327Tyr)
c.3887C>A (p.Ser1296Tyr)
c.3362C>A (p.Ser1121Tyr)
c.3677C>A (p.Ser1226Tyr)
n.8249C>A
 dbSNP
3g.9475628C=CA1344742544SETD5n.2821C=
c.3962C= (p.Ser1321=)
n.4855C=
n.2246C=
n.6663C=
n.6108C=
c.3866C= (p.Ser1289=)
c.*4012C= (n.*4012C=)
c.*3935C= (n.*3935C=)
c.*4240C= (n.*4240C=)
c.*3971C= (n.*3971C=)
c.3572C= (p.Ser1191=)
c.2722+472C=
c.3923C= (p.Ser1308=)
c.2902C=
n.997C=
n.3207C=
n.253C=
n.4030C=
c.4040C= (p.Ser1347=)
c.4019C= (p.Ser1340=)
c.4001C= (p.Ser1334=)
c.3983C= (p.Ser1328=)
c.3944C= (p.Ser1315=)
c.3905C= (p.Ser1302=)
c.3629C= (p.Ser1210=)
c.3590C= (p.Ser1197=)
c.3980C= (p.Ser1327=)
c.3887C= (p.Ser1296=)
c.3362C= (p.Ser1121=)
c.3677C= (p.Ser1226=)
n.8249C=
3g.9475628C>GCA351691812SETD5n.2821C>G
c.3962C>G (p.Ser1321Cys)
n.4855C>G
n.2246C>G
n.6663C>G
n.6108C>G
c.3866C>G (p.Ser1289Cys)
c.*4012C>G (n.*4012C>G)
c.*3935C>G (n.*3935C>G)
c.*4240C>G (n.*4240C>G)
c.*3971C>G (n.*3971C>G)
c.3572C>G (p.Ser1191Cys)
c.2722+472C>G
c.3923C>G (p.Ser1308Cys)
c.2902C>G
n.997C>G
n.3207C>G
n.253C>G
n.4030C>G
c.4040C>G (p.Ser1347Cys)
c.4019C>G (p.Ser1340Cys)
c.4001C>G (p.Ser1334Cys)
c.3983C>G (p.Ser1328Cys)
c.3944C>G (p.Ser1315Cys)
c.3905C>G (p.Ser1302Cys)
c.3629C>G (p.Ser1210Cys)
c.3590C>G (p.Ser1197Cys)
c.3980C>G (p.Ser1327Cys)
c.3887C>G (p.Ser1296Cys)
c.3362C>G (p.Ser1121Cys)
c.3677C>G (p.Ser1226Cys)
n.8249C>G
 gnomAD v4
3g.9475628C>TCA351691820SETD5n.2821C>T
c.3962C>T (p.Ser1321Phe)
n.4855C>T
n.2246C>T
n.6663C>T
n.6108C>T
c.3866C>T (p.Ser1289Phe)
c.*4012C>T (n.*4012C>T)
c.*3935C>T (n.*3935C>T)
c.*4240C>T (n.*4240C>T)
c.*3971C>T (n.*3971C>T)
c.3572C>T (p.Ser1191Phe)
c.2722+472C>T
c.3923C>T (p.Ser1308Phe)
c.2902C>T
n.997C>T
n.3207C>T
n.253C>T
n.4030C>T
c.4040C>T (p.Ser1347Phe)
c.4019C>T (p.Ser1340Phe)
c.4001C>T (p.Ser1334Phe)
c.3983C>T (p.Ser1328Phe)
c.3944C>T (p.Ser1315Phe)
c.3905C>T (p.Ser1302Phe)
c.3629C>T (p.Ser1210Phe)
c.3590C>T (p.Ser1197Phe)
c.3980C>T (p.Ser1327Phe)
c.3887C>T (p.Ser1296Phe)
c.3362C>T (p.Ser1121Phe)
c.3677C>T (p.Ser1226Phe)
n.8249C>T
 dbSNP
3g.9475629T>ACA432528692SETD5n.2822T>A
c.3963T>A (p.Ser1321=)
n.4856T>A
n.2247T>A
n.6664T>A
n.6109T>A
c.3867T>A (p.Ser1289=)
c.*4013T>A (n.*4013T>A)
c.*3936T>A (n.*3936T>A)
c.*4241T>A (n.*4241T>A)
c.*3972T>A (n.*3972T>A)
c.3573T>A (p.Ser1191=)
c.2722+473T>A
c.3924T>A (p.Ser1308=)
c.2903T>A
n.998T>A
n.3208T>A
n.254T>A
n.4031T>A
c.4041T>A (p.Ser1347=)
c.4020T>A (p.Ser1340=)
c.4002T>A (p.Ser1334=)
c.3984T>A (p.Ser1328=)
c.3945T>A (p.Ser1315=)
c.3906T>A (p.Ser1302=)
c.3630T>A (p.Ser1210=)
c.3591T>A (p.Ser1197=)
c.3981T>A (p.Ser1327=)
c.3888T>A (p.Ser1296=)
c.3363T>A (p.Ser1121=)
c.3678T>A (p.Ser1226=)
n.8250T>A
3g.9475629T>CCA432528694SETD5n.2822T>C
c.3963T>C (p.Ser1321=)
n.4856T>C
n.2247T>C
n.6664T>C
n.6109T>C
c.3867T>C (p.Ser1289=)
c.*4013T>C (n.*4013T>C)
c.*3936T>C (n.*3936T>C)
c.*4241T>C (n.*4241T>C)
c.*3972T>C (n.*3972T>C)
c.3573T>C (p.Ser1191=)
c.2722+473T>C
c.3924T>C (p.Ser1308=)
c.2903T>C
n.998T>C
n.3208T>C
n.254T>C
n.4031T>C
c.4041T>C (p.Ser1347=)
c.4020T>C (p.Ser1340=)
c.4002T>C (p.Ser1334=)
c.3984T>C (p.Ser1328=)
c.3945T>C (p.Ser1315=)
c.3906T>C (p.Ser1302=)
c.3630T>C (p.Ser1210=)
c.3591T>C (p.Ser1197=)
c.3981T>C (p.Ser1327=)
c.3888T>C (p.Ser1296=)
c.3363T>C (p.Ser1121=)
c.3678T>C (p.Ser1226=)
n.8250T>C
3g.9475629T>GCA432528695SETD5n.2822T>G
c.3963T>G (p.Ser1321=)
n.4856T>G
n.2247T>G
n.6664T>G
n.6109T>G
c.3867T>G (p.Ser1289=)
c.*4013T>G (n.*4013T>G)
c.*3936T>G (n.*3936T>G)
c.*4241T>G (n.*4241T>G)
c.*3972T>G (n.*3972T>G)
c.3573T>G (p.Ser1191=)
c.2722+473T>G
c.3924T>G (p.Ser1308=)
c.2903T>G
n.998T>G
n.3208T>G
n.254T>G
n.4031T>G
c.4041T>G (p.Ser1347=)
c.4020T>G (p.Ser1340=)
c.4002T>G (p.Ser1334=)
c.3984T>G (p.Ser1328=)
c.3945T>G (p.Ser1315=)
c.3906T>G (p.Ser1302=)
c.3630T>G (p.Ser1210=)
c.3591T>G (p.Ser1197=)
c.3981T>G (p.Ser1327=)
c.3888T>G (p.Ser1296=)
c.3363T>G (p.Ser1121=)
c.3678T>G (p.Ser1226=)
n.8250T>G
3g.9475630T>ACA351691825SETD5n.2823T>A
c.3964T>A (p.Ser1322Thr)
n.4857T>A
n.2248T>A
n.6665T>A
n.6110T>A
c.3868T>A (p.Ser1290Thr)
c.*4014T>A (n.*4014T>A)
c.*3937T>A (n.*3937T>A)
c.*4242T>A (n.*4242T>A)
c.*3973T>A (n.*3973T>A)
c.3574T>A (p.Ser1192Thr)
c.2722+474T>A
c.3925T>A (p.Ser1309Thr)
c.2904T>A
n.999T>A
n.3209T>A
n.255T>A
n.4032T>A
c.4042T>A (p.Ser1348Thr)
c.4021T>A (p.Ser1341Thr)
c.4003T>A (p.Ser1335Thr)
c.3985T>A (p.Ser1329Thr)
c.3946T>A (p.Ser1316Thr)
c.3907T>A (p.Ser1303Thr)
c.3631T>A (p.Ser1211Thr)
c.3592T>A (p.Ser1198Thr)
c.3982T>A (p.Ser1328Thr)
c.3889T>A (p.Ser1297Thr)
c.3364T>A (p.Ser1122Thr)
c.3679T>A (p.Ser1227Thr)
n.8251T>A
 gnomAD v4
3g.9475630T>CCA351691826SETD5n.2823T>C
c.3964T>C (p.Ser1322Pro)
n.4857T>C
n.2248T>C
n.6665T>C
n.6110T>C
c.3868T>C (p.Ser1290Pro)
c.*4014T>C (n.*4014T>C)
c.*3937T>C (n.*3937T>C)
c.*4242T>C (n.*4242T>C)
c.*3973T>C (n.*3973T>C)
c.3574T>C (p.Ser1192Pro)
c.2722+474T>C
c.3925T>C (p.Ser1309Pro)
c.2904T>C
n.999T>C
n.3209T>C
n.255T>C
n.4032T>C
c.4042T>C (p.Ser1348Pro)
c.4021T>C (p.Ser1341Pro)
c.4003T>C (p.Ser1335Pro)
c.3985T>C (p.Ser1329Pro)
c.3946T>C (p.Ser1316Pro)
c.3907T>C (p.Ser1303Pro)
c.3631T>C (p.Ser1211Pro)
c.3592T>C (p.Ser1198Pro)
c.3982T>C (p.Ser1328Pro)
c.3889T>C (p.Ser1297Pro)
c.3364T>C (p.Ser1122Pro)
c.3679T>C (p.Ser1227Pro)
n.8251T>C
3g.9475630T>GCA351691827SETD5n.2823T>G
c.3964T>G (p.Ser1322Ala)
n.4857T>G
n.2248T>G
n.6665T>G
n.6110T>G
c.3868T>G (p.Ser1290Ala)
c.*4014T>G (n.*4014T>G)
c.*3937T>G (n.*3937T>G)
c.*4242T>G (n.*4242T>G)
c.*3973T>G (n.*3973T>G)
c.3574T>G (p.Ser1192Ala)
c.2722+474T>G
c.3925T>G (p.Ser1309Ala)
c.2904T>G
n.999T>G
n.3209T>G
n.255T>G
n.4032T>G
c.4042T>G (p.Ser1348Ala)
c.4021T>G (p.Ser1341Ala)
c.4003T>G (p.Ser1335Ala)
c.3985T>G (p.Ser1329Ala)
c.3946T>G (p.Ser1316Ala)
c.3907T>G (p.Ser1303Ala)
c.3631T>G (p.Ser1211Ala)
c.3592T>G (p.Ser1198Ala)
c.3982T>G (p.Ser1328Ala)
c.3889T>G (p.Ser1297Ala)
c.3364T>G (p.Ser1122Ala)
c.3679T>G (p.Ser1227Ala)
n.8251T>G
3g.9475631C>ACA351691829SETD5n.2824C>A
c.3965C>A (p.Ser1322Ter)
n.4858C>A
n.2249C>A
n.6666C>A
n.6111C>A
c.3869C>A (p.Ser1290Ter)
c.*4015C>A (n.*4015C>A)
c.*3938C>A (n.*3938C>A)
c.*4243C>A (n.*4243C>A)
c.*3974C>A (n.*3974C>A)
c.3575C>A (p.Ser1192Ter)
c.2722+475C>A
c.3926C>A (p.Ser1309Ter)
c.2905C>A
n.1000C>A
n.3210C>A
n.256C>A
n.4033C>A
c.4043C>A (p.Ser1348Ter)
c.4022C>A (p.Ser1341Ter)
c.4004C>A (p.Ser1335Ter)
c.3986C>A (p.Ser1329Ter)
c.3947C>A (p.Ser1316Ter)
c.3908C>A (p.Ser1303Ter)
c.3632C>A (p.Ser1211Ter)
c.3593C>A (p.Ser1198Ter)
c.3983C>A (p.Ser1328Ter)
c.3890C>A (p.Ser1297Ter)
c.3365C>A (p.Ser1122Ter)
c.3680C>A (p.Ser1227Ter)
n.8252C>A
3g.9475631C=CA1344742547SETD5n.2824C=
c.3965C= (p.Ser1322=)
n.4858C=
n.2249C=
n.6666C=
n.6111C=
c.3869C= (p.Ser1290=)
c.*4015C= (n.*4015C=)
c.*3938C= (n.*3938C=)
c.*4243C= (n.*4243C=)
c.*3974C= (n.*3974C=)
c.3575C= (p.Ser1192=)
c.2722+475C=
c.3926C= (p.Ser1309=)
c.2905C=
n.1000C=
n.3210C=
n.256C=
n.4033C=
c.4043C= (p.Ser1348=)
c.4022C= (p.Ser1341=)
c.4004C= (p.Ser1335=)
c.3986C= (p.Ser1329=)
c.3947C= (p.Ser1316=)
c.3908C= (p.Ser1303=)
c.3632C= (p.Ser1211=)
c.3593C= (p.Ser1198=)
c.3983C= (p.Ser1328=)
c.3890C= (p.Ser1297=)
c.3365C= (p.Ser1122=)
c.3680C= (p.Ser1227=)
n.8252C=
3g.9475631C>GCA351691844SETD5n.2824C>G
c.3965C>G (p.Ser1322Ter)
n.4858C>G
n.2249C>G
n.6666C>G
n.6111C>G
c.3869C>G (p.Ser1290Ter)
c.*4015C>G (n.*4015C>G)
c.*3938C>G (n.*3938C>G)
c.*4243C>G (n.*4243C>G)
c.*3974C>G (n.*3974C>G)
c.3575C>G (p.Ser1192Ter)
c.2722+475C>G
c.3926C>G (p.Ser1309Ter)
c.2905C>G
n.1000C>G
n.3210C>G
n.256C>G
n.4033C>G
c.4043C>G (p.Ser1348Ter)
c.4022C>G (p.Ser1341Ter)
c.4004C>G (p.Ser1335Ter)
c.3986C>G (p.Ser1329Ter)
c.3947C>G (p.Ser1316Ter)
c.3908C>G (p.Ser1303Ter)
c.3632C>G (p.Ser1211Ter)
c.3593C>G (p.Ser1198Ter)
c.3983C>G (p.Ser1328Ter)
c.3890C>G (p.Ser1297Ter)
c.3365C>G (p.Ser1122Ter)
c.3680C>G (p.Ser1227Ter)
n.8252C>G
3g.9475631C>TCA351691834SETD5n.2824C>T
c.3965C>T (p.Ser1322Leu)
n.4858C>T
n.2249C>T
n.6666C>T
n.6111C>T
c.3869C>T (p.Ser1290Leu)
c.*4015C>T (n.*4015C>T)
c.*3938C>T (n.*3938C>T)
c.*4243C>T (n.*4243C>T)
c.*3974C>T (n.*3974C>T)
c.3575C>T (p.Ser1192Leu)
c.2722+475C>T
c.3926C>T (p.Ser1309Leu)
c.2905C>T
n.1000C>T
n.3210C>T
n.256C>T
n.4033C>T
c.4043C>T (p.Ser1348Leu)
c.4022C>T (p.Ser1341Leu)
c.4004C>T (p.Ser1335Leu)
c.3986C>T (p.Ser1329Leu)
c.3947C>T (p.Ser1316Leu)
c.3908C>T (p.Ser1303Leu)
c.3632C>T (p.Ser1211Leu)
c.3593C>T (p.Ser1198Leu)
c.3983C>T (p.Ser1328Leu)
c.3890C>T (p.Ser1297Leu)
c.3365C>T (p.Ser1122Leu)
c.3680C>T (p.Ser1227Leu)
n.8252C>T
 dbSNP gnomAD v2 gnomAD v4
3g.9475632A>CCA432528708SETD5n.2825A>C
c.3966A>C (p.Ser1322=)
n.4859A>C
n.2250A>C
n.6667A>C
n.6112A>C
c.3870A>C (p.Ser1290=)
c.*4016A>C (n.*4016A>C)
c.*3939A>C (n.*3939A>C)
c.*4244A>C (n.*4244A>C)
c.*3975A>C (n.*3975A>C)
c.3576A>C (p.Ser1192=)
c.2722+476A>C
c.3927A>C (p.Ser1309=)
c.2906A>C
n.1001A>C
n.3211A>C
n.257A>C
n.4034A>C
c.4044A>C (p.Ser1348=)
c.4023A>C (p.Ser1341=)
c.4005A>C (p.Ser1335=)
c.3987A>C (p.Ser1329=)
c.3948A>C (p.Ser1316=)
c.3909A>C (p.Ser1303=)
c.3633A>C (p.Ser1211=)
c.3594A>C (p.Ser1198=)
c.3984A>C (p.Ser1328=)
c.3891A>C (p.Ser1297=)
c.3366A>C (p.Ser1122=)
c.3681A>C (p.Ser1227=)
n.8253A>C
3g.9475632A>GCA432528703SETD5n.2825A>G
c.3966A>G (p.Ser1322=)
n.4859A>G
n.2250A>G
n.6667A>G
n.6112A>G
c.3870A>G (p.Ser1290=)
c.*4016A>G (n.*4016A>G)
c.*3939A>G (n.*3939A>G)
c.*4244A>G (n.*4244A>G)
c.*3975A>G (n.*3975A>G)
c.3576A>G (p.Ser1192=)
c.2722+476A>G
c.3927A>G (p.Ser1309=)
c.2906A>G
n.1001A>G
n.3211A>G
n.257A>G
n.4034A>G
c.4044A>G (p.Ser1348=)
c.4023A>G (p.Ser1341=)
c.4005A>G (p.Ser1335=)
c.3987A>G (p.Ser1329=)
c.3948A>G (p.Ser1316=)
c.3909A>G (p.Ser1303=)
c.3633A>G (p.Ser1211=)
c.3594A>G (p.Ser1198=)
c.3984A>G (p.Ser1328=)
c.3891A>G (p.Ser1297=)
c.3366A>G (p.Ser1122=)
c.3681A>G (p.Ser1227=)
n.8253A>G
3g.9475632A>TCA432528706SETD5n.2825A>T
c.3966A>T (p.Ser1322=)
n.4859A>T
n.2250A>T
n.6667A>T
n.6112A>T
c.3870A>T (p.Ser1290=)
c.*4016A>T (n.*4016A>T)
c.*3939A>T (n.*3939A>T)
c.*4244A>T (n.*4244A>T)
c.*3975A>T (n.*3975A>T)
c.3576A>T (p.Ser1192=)
c.2722+476A>T
c.3927A>T (p.Ser1309=)
c.2906A>T
n.1001A>T
n.3211A>T
n.257A>T
n.4034A>T
c.4044A>T (p.Ser1348=)
c.4023A>T (p.Ser1341=)
c.4005A>T (p.Ser1335=)
c.3987A>T (p.Ser1329=)
c.3948A>T (p.Ser1316=)
c.3909A>T (p.Ser1303=)
c.3633A>T (p.Ser1211=)
c.3594A>T (p.Ser1198=)
c.3984A>T (p.Ser1328=)
c.3891A>T (p.Ser1297=)
c.3366A>T (p.Ser1122=)
c.3681A>T (p.Ser1227=)
n.8253A>T
3g.9475633G>ACA351691849SETD5n.2826G>A
c.3967G>A (p.Glu1323Lys)
n.4860G>A
n.2251G>A
n.6668G>A
n.6113G>A
c.3871G>A (p.Glu1291Lys)
c.*4017G>A (n.*4017G>A)
c.*3940G>A (n.*3940G>A)
c.*4245G>A (n.*4245G>A)
c.*3976G>A (n.*3976G>A)
c.3577G>A (p.Glu1193Lys)
c.2722+477G>A
c.3928G>A (p.Glu1310Lys)
c.2907G>A
n.1002G>A
n.3212G>A
n.258G>A
n.4035G>A
c.4045G>A (p.Glu1349Lys)
c.4024G>A (p.Glu1342Lys)
c.4006G>A (p.Glu1336Lys)
c.3988G>A (p.Glu1330Lys)
c.3949G>A (p.Glu1317Lys)
c.3910G>A (p.Glu1304Lys)
c.3634G>A (p.Glu1212Lys)
c.3595G>A (p.Glu1199Lys)
c.3985G>A (p.Glu1329Lys)
c.3892G>A (p.Glu1298Lys)
c.3367G>A (p.Glu1123Lys)
c.3682G>A (p.Glu1228Lys)
n.8254G>A
3g.9475633G>CCA351691851SETD5n.2826G>C
c.3967G>C (p.Glu1323Gln)
n.4860G>C
n.2251G>C
n.6668G>C
n.6113G>C
c.3871G>C (p.Glu1291Gln)
c.*4017G>C (n.*4017G>C)
c.*3940G>C (n.*3940G>C)
c.*4245G>C (n.*4245G>C)
c.*3976G>C (n.*3976G>C)
c.3577G>C (p.Glu1193Gln)
c.2722+477G>C
c.3928G>C (p.Glu1310Gln)
c.2907G>C
n.1002G>C
n.3212G>C
n.258G>C
n.4035G>C
c.4045G>C (p.Glu1349Gln)
c.4024G>C (p.Glu1342Gln)
c.4006G>C (p.Glu1336Gln)
c.3988G>C (p.Glu1330Gln)
c.3949G>C (p.Glu1317Gln)
c.3910G>C (p.Glu1304Gln)
c.3634G>C (p.Glu1212Gln)
c.3595G>C (p.Glu1199Gln)
c.3985G>C (p.Glu1329Gln)
c.3892G>C (p.Glu1298Gln)
c.3367G>C (p.Glu1123Gln)
c.3682G>C (p.Glu1228Gln)
n.8254G>C
 dbSNP
3g.9475633G=CA1344742550SETD5n.2826G=
c.3967G= (p.Glu1323=)
n.4860G=
n.2251G=
n.6668G=
n.6113G=
c.3871G= (p.Glu1291=)
c.*4017G= (n.*4017G=)
c.*3940G= (n.*3940G=)
c.*4245G= (n.*4245G=)
c.*3976G= (n.*3976G=)
c.3577G= (p.Glu1193=)
c.2722+477G=
c.3928G= (p.Glu1310=)
c.2907G=
n.1002G=
n.3212G=
n.258G=
n.4035G=
c.4045G= (p.Glu1349=)
c.4024G= (p.Glu1342=)
c.4006G= (p.Glu1336=)
c.3988G= (p.Glu1330=)
c.3949G= (p.Glu1317=)
c.3910G= (p.Glu1304=)
c.3634G= (p.Glu1212=)
c.3595G= (p.Glu1199=)
c.3985G= (p.Glu1329=)
c.3892G= (p.Glu1298=)
c.3367G= (p.Glu1123=)
c.3682G= (p.Glu1228=)
n.8254G=
3g.9475633G>TCA351691853SETD5n.2826G>T
c.3967G>T (p.Glu1323Ter)
n.4860G>T
n.2251G>T
n.6668G>T
n.6113G>T
c.3871G>T (p.Glu1291Ter)
c.*4017G>T (n.*4017G>T)
c.*3940G>T (n.*3940G>T)
c.*4245G>T (n.*4245G>T)
c.*3976G>T (n.*3976G>T)
c.3577G>T (p.Glu1193Ter)
c.2722+477G>T
c.3928G>T (p.Glu1310Ter)
c.2907G>T
n.1002G>T
n.3212G>T
n.258G>T
n.4035G>T
c.4045G>T (p.Glu1349Ter)
c.4024G>T (p.Glu1342Ter)
c.4006G>T (p.Glu1336Ter)
c.3988G>T (p.Glu1330Ter)
c.3949G>T (p.Glu1317Ter)
c.3910G>T (p.Glu1304Ter)
c.3634G>T (p.Glu1212Ter)
c.3595G>T (p.Glu1199Ter)
c.3985G>T (p.Glu1329Ter)
c.3892G>T (p.Glu1298Ter)
c.3367G>T (p.Glu1123Ter)
c.3682G>T (p.Glu1228Ter)
n.8254G>T
3g.9475634A>CCA351691860SETD5n.2827A>C
c.3968A>C (p.Glu1323Ala)
n.4861A>C
n.2252A>C
n.6669A>C
n.6114A>C
c.3872A>C (p.Glu1291Ala)
c.*4018A>C (n.*4018A>C)
c.*3941A>C (n.*3941A>C)
c.*4246A>C (n.*4246A>C)
c.*3977A>C (n.*3977A>C)
c.3578A>C (p.Glu1193Ala)
c.2722+478A>C
c.3929A>C (p.Glu1310Ala)
c.2908A>C
n.1003A>C
n.3213A>C
n.259A>C
n.4036A>C
c.4046A>C (p.Glu1349Ala)
c.4025A>C (p.Glu1342Ala)
c.4007A>C (p.Glu1336Ala)
c.3989A>C (p.Glu1330Ala)
c.3950A>C (p.Glu1317Ala)
c.3911A>C (p.Glu1304Ala)
c.3635A>C (p.Glu1212Ala)
c.3596A>C (p.Glu1199Ala)
c.3986A>C (p.Glu1329Ala)
c.3893A>C (p.Glu1298Ala)
c.3368A>C (p.Glu1123Ala)
c.3683A>C (p.Glu1228Ala)
n.8255A>C
 gnomAD v4
3g.9475634A>GCA351691861SETD5n.2827A>G
c.3968A>G (p.Glu1323Gly)
n.4861A>G
n.2252A>G
n.6669A>G
n.6114A>G
c.3872A>G (p.Glu1291Gly)
c.*4018A>G (n.*4018A>G)
c.*3941A>G (n.*3941A>G)
c.*4246A>G (n.*4246A>G)
c.*3977A>G (n.*3977A>G)
c.3578A>G (p.Glu1193Gly)
c.2722+478A>G
c.3929A>G (p.Glu1310Gly)
c.2908A>G
n.1003A>G
n.3213A>G
n.259A>G
n.4036A>G
c.4046A>G (p.Glu1349Gly)
c.4025A>G (p.Glu1342Gly)
c.4007A>G (p.Glu1336Gly)
c.3989A>G (p.Glu1330Gly)
c.3950A>G (p.Glu1317Gly)
c.3911A>G (p.Glu1304Gly)
c.3635A>G (p.Glu1212Gly)
c.3596A>G (p.Glu1199Gly)
c.3986A>G (p.Glu1329Gly)
c.3893A>G (p.Glu1298Gly)
c.3368A>G (p.Glu1123Gly)
c.3683A>G (p.Glu1228Gly)
n.8255A>G
3g.9475634A>TCA351691862SETD5n.2827A>T
c.3968A>T (p.Glu1323Val)
n.4861A>T
n.2252A>T
n.6669A>T
n.6114A>T
c.3872A>T (p.Glu1291Val)
c.*4018A>T (n.*4018A>T)
c.*3941A>T (n.*3941A>T)
c.*4246A>T (n.*4246A>T)
c.*3977A>T (n.*3977A>T)
c.3578A>T (p.Glu1193Val)
c.2722+478A>T
c.3929A>T (p.Glu1310Val)
c.2908A>T
n.1003A>T
n.3213A>T
n.259A>T
n.4036A>T
c.4046A>T (p.Glu1349Val)
c.4025A>T (p.Glu1342Val)
c.4007A>T (p.Glu1336Val)
c.3989A>T (p.Glu1330Val)
c.3950A>T (p.Glu1317Val)
c.3911A>T (p.Glu1304Val)
c.3635A>T (p.Glu1212Val)
c.3596A>T (p.Glu1199Val)
c.3986A>T (p.Glu1329Val)
c.3893A>T (p.Glu1298Val)
c.3368A>T (p.Glu1123Val)
c.3683A>T (p.Glu1228Val)
n.8255A>T
3g.9475635A>CCA351691867SETD5n.2828A>C
c.3969A>C (p.Glu1323Asp)
n.4862A>C
n.2253A>C
n.6670A>C
n.6115A>C
c.3873A>C (p.Glu1291Asp)
c.*4019A>C (n.*4019A>C)
c.*3942A>C (n.*3942A>C)
c.*4247A>C (n.*4247A>C)
c.*3978A>C (n.*3978A>C)
c.3579A>C (p.Glu1193Asp)
c.2722+479A>C
c.3930A>C (p.Glu1310Asp)
c.2909A>C
n.1004A>C
n.3214A>C
n.260A>C
n.4037A>C
c.4047A>C (p.Glu1349Asp)
c.4026A>C (p.Glu1342Asp)
c.4008A>C (p.Glu1336Asp)
c.3990A>C (p.Glu1330Asp)
c.3951A>C (p.Glu1317Asp)
c.3912A>C (p.Glu1304Asp)
c.3636A>C (p.Glu1212Asp)
c.3597A>C (p.Glu1199Asp)
c.3987A>C (p.Glu1329Asp)
c.3894A>C (p.Glu1298Asp)
c.3369A>C (p.Glu1123Asp)
c.3684A>C (p.Glu1228Asp)
n.8256A>C
3g.9475635A>GCA432528721SETD5n.2828A>G
c.3969A>G (p.Glu1323=)
n.4862A>G
n.2253A>G
n.6670A>G
n.6115A>G
c.3873A>G (p.Glu1291=)
c.*4019A>G (n.*4019A>G)
c.*3942A>G (n.*3942A>G)
c.*4247A>G (n.*4247A>G)
c.*3978A>G (n.*3978A>G)
c.3579A>G (p.Glu1193=)
c.2722+479A>G
c.3930A>G (p.Glu1310=)
c.2909A>G
n.1004A>G
n.3214A>G
n.260A>G
n.4037A>G
c.4047A>G (p.Glu1349=)
c.4026A>G (p.Glu1342=)
c.4008A>G (p.Glu1336=)
c.3990A>G (p.Glu1330=)
c.3951A>G (p.Glu1317=)
c.3912A>G (p.Glu1304=)
c.3636A>G (p.Glu1212=)
c.3597A>G (p.Glu1199=)
c.3987A>G (p.Glu1329=)
c.3894A>G (p.Glu1298=)
c.3369A>G (p.Glu1123=)
c.3684A>G (p.Glu1228=)
n.8256A>G
3g.9475635A>TCA351691873SETD5n.2828A>T
c.3969A>T (p.Glu1323Asp)
n.4862A>T
n.2253A>T
n.6670A>T
n.6115A>T
c.3873A>T (p.Glu1291Asp)
c.*4019A>T (n.*4019A>T)
c.*3942A>T (n.*3942A>T)
c.*4247A>T (n.*4247A>T)
c.*3978A>T (n.*3978A>T)
c.3579A>T (p.Glu1193Asp)
c.2722+479A>T
c.3930A>T (p.Glu1310Asp)
c.2909A>T
n.1004A>T
n.3214A>T
n.260A>T
n.4037A>T
c.4047A>T (p.Glu1349Asp)
c.4026A>T (p.Glu1342Asp)
c.4008A>T (p.Glu1336Asp)
c.3990A>T (p.Glu1330Asp)
c.3951A>T (p.Glu1317Asp)
c.3912A>T (p.Glu1304Asp)
c.3636A>T (p.Glu1212Asp)
c.3597A>T (p.Glu1199Asp)
c.3987A>T (p.Glu1329Asp)
c.3894A>T (p.Glu1298Asp)
c.3369A>T (p.Glu1123Asp)
c.3684A>T (p.Glu1228Asp)
n.8256A>T
3g.9475636T>ACA351691877SETD5n.2829T>A
c.3970T>A (p.Ser1324Thr)
n.4863T>A
n.2254T>A
n.6671T>A
n.6116T>A
c.3874T>A (p.Ser1292Thr)
c.*4020T>A (n.*4020T>A)
c.*3943T>A (n.*3943T>A)
c.*4248T>A (n.*4248T>A)
c.*3979T>A (n.*3979T>A)
c.3580T>A (p.Ser1194Thr)
c.2722+480T>A
c.3931T>A (p.Ser1311Thr)
c.2910T>A
n.1005T>A
n.3215T>A
n.261T>A
n.4038T>A
c.4048T>A (p.Ser1350Thr)
c.4027T>A (p.Ser1343Thr)
c.4009T>A (p.Ser1337Thr)
c.3991T>A (p.Ser1331Thr)
c.3952T>A (p.Ser1318Thr)
c.3913T>A (p.Ser1305Thr)
c.3637T>A (p.Ser1213Thr)
c.3598T>A (p.Ser1200Thr)
c.3988T>A (p.Ser1330Thr)
c.3895T>A (p.Ser1299Thr)
c.3370T>A (p.Ser1124Thr)
c.3685T>A (p.Ser1229Thr)
n.8257T>A
3g.9475636T>CCA351691878SETD5n.2829T>C
c.3970T>C (p.Ser1324Pro)
n.4863T>C
n.2254T>C
n.6671T>C
n.6116T>C
c.3874T>C (p.Ser1292Pro)
c.*4020T>C (n.*4020T>C)
c.*3943T>C (n.*3943T>C)
c.*4248T>C (n.*4248T>C)
c.*3979T>C (n.*3979T>C)
c.3580T>C (p.Ser1194Pro)
c.2722+480T>C
c.3931T>C (p.Ser1311Pro)
c.2910T>C
n.1005T>C
n.3215T>C
n.261T>C
n.4038T>C
c.4048T>C (p.Ser1350Pro)
c.4027T>C (p.Ser1343Pro)
c.4009T>C (p.Ser1337Pro)
c.3991T>C (p.Ser1331Pro)
c.3952T>C (p.Ser1318Pro)
c.3913T>C (p.Ser1305Pro)
c.3637T>C (p.Ser1213Pro)
c.3598T>C (p.Ser1200Pro)
c.3988T>C (p.Ser1330Pro)
c.3895T>C (p.Ser1299Pro)
c.3370T>C (p.Ser1124Pro)
c.3685T>C (p.Ser1229Pro)
n.8257T>C
3g.9475636T>GCA351691880SETD5n.2829T>G
c.3970T>G (p.Ser1324Ala)
n.4863T>G
n.2254T>G
n.6671T>G
n.6116T>G
c.3874T>G (p.Ser1292Ala)
c.*4020T>G (n.*4020T>G)
c.*3943T>G (n.*3943T>G)
c.*4248T>G (n.*4248T>G)
c.*3979T>G (n.*3979T>G)
c.3580T>G (p.Ser1194Ala)
c.2722+480T>G
c.3931T>G (p.Ser1311Ala)
c.2910T>G
n.1005T>G
n.3215T>G
n.261T>G
n.4038T>G
c.4048T>G (p.Ser1350Ala)
c.4027T>G (p.Ser1343Ala)
c.4009T>G (p.Ser1337Ala)
c.3991T>G (p.Ser1331Ala)
c.3952T>G (p.Ser1318Ala)
c.3913T>G (p.Ser1305Ala)
c.3637T>G (p.Ser1213Ala)
c.3598T>G (p.Ser1200Ala)
c.3988T>G (p.Ser1330Ala)
c.3895T>G (p.Ser1299Ala)
c.3370T>G (p.Ser1124Ala)
c.3685T>G (p.Ser1229Ala)
n.8257T>G
3g.9475637C>ACA351691922SETD5n.2830C>A
c.3971C>A (p.Ser1324Ter)
n.4864C>A
n.2255C>A
n.6672C>A
n.6117C>A
c.3875C>A (p.Ser1292Ter)
c.*4021C>A (n.*4021C>A)
c.*3944C>A (n.*3944C>A)
c.*4249C>A (n.*4249C>A)
c.*3980C>A (n.*3980C>A)
c.3581C>A (p.Ser1194Ter)
c.2722+481C>A
c.3932C>A (p.Ser1311Ter)
c.2911C>A
n.1006C>A
n.3216C>A
n.262C>A
n.4039C>A
c.4049C>A (p.Ser1350Ter)
c.4028C>A (p.Ser1343Ter)
c.4010C>A (p.Ser1337Ter)
c.3992C>A (p.Ser1331Ter)
c.3953C>A (p.Ser1318Ter)
c.3914C>A (p.Ser1305Ter)
c.3638C>A (p.Ser1213Ter)
c.3599C>A (p.Ser1200Ter)
c.3989C>A (p.Ser1330Ter)
c.3896C>A (p.Ser1299Ter)
c.3371C>A (p.Ser1124Ter)
c.3686C>A (p.Ser1229Ter)
n.8258C>A
3g.9475637C>GCA351691921SETD5n.2830C>G
c.3971C>G (p.Ser1324Ter)
n.4864C>G
n.2255C>G
n.6672C>G
n.6117C>G
c.3875C>G (p.Ser1292Ter)
c.*4021C>G (n.*4021C>G)
c.*3944C>G (n.*3944C>G)
c.*4249C>G (n.*4249C>G)
c.*3980C>G (n.*3980C>G)
c.3581C>G (p.Ser1194Ter)
c.2722+481C>G
c.3932C>G (p.Ser1311Ter)
c.2911C>G
n.1006C>G
n.3216C>G
n.262C>G
n.4039C>G
c.4049C>G (p.Ser1350Ter)
c.4028C>G (p.Ser1343Ter)
c.4010C>G (p.Ser1337Ter)
c.3992C>G (p.Ser1331Ter)
c.3953C>G (p.Ser1318Ter)
c.3914C>G (p.Ser1305Ter)
c.3638C>G (p.Ser1213Ter)
c.3599C>G (p.Ser1200Ter)
c.3989C>G (p.Ser1330Ter)
c.3896C>G (p.Ser1299Ter)
c.3371C>G (p.Ser1124Ter)
c.3686C>G (p.Ser1229Ter)
n.8258C>G
3g.9475637C>TCA351691917SETD5n.2830C>T
c.3971C>T (p.Ser1324Leu)
n.4864C>T
n.2255C>T
n.6672C>T
n.6117C>T
c.3875C>T (p.Ser1292Leu)
c.*4021C>T (n.*4021C>T)
c.*3944C>T (n.*3944C>T)
c.*4249C>T (n.*4249C>T)
c.*3980C>T (n.*3980C>T)
c.3581C>T (p.Ser1194Leu)
c.2722+481C>T
c.3932C>T (p.Ser1311Leu)
c.2911C>T
n.1006C>T
n.3216C>T
n.262C>T
n.4039C>T
c.4049C>T (p.Ser1350Leu)
c.4028C>T (p.Ser1343Leu)
c.4010C>T (p.Ser1337Leu)
c.3992C>T (p.Ser1331Leu)
c.3953C>T (p.Ser1318Leu)
c.3914C>T (p.Ser1305Leu)
c.3638C>T (p.Ser1213Leu)
c.3599C>T (p.Ser1200Leu)
c.3989C>T (p.Ser1330Leu)
c.3896C>T (p.Ser1299Leu)
c.3371C>T (p.Ser1124Leu)
c.3686C>T (p.Ser1229Leu)
n.8258C>T
3g.9475638A=CA1344742555SETD5n.2831A=
c.3972A= (p.Ser1324=)
n.4865A=
n.2256A=
n.6673A=
n.6118A=
c.3876A= (p.Ser1292=)
c.*4022A= (n.*4022A=)
c.*3945A= (n.*3945A=)
c.*4250A= (n.*4250A=)
c.*3981A= (n.*3981A=)
c.3582A= (p.Ser1194=)
c.2722+482A=
c.3933A= (p.Ser1311=)
c.2912A=
n.1007A=
n.3217A=
n.263A=
n.4040A=
c.4050A= (p.Ser1350=)
c.4029A= (p.Ser1343=)
c.4011A= (p.Ser1337=)
c.3993A= (p.Ser1331=)
c.3954A= (p.Ser1318=)
c.3915A= (p.Ser1305=)
c.3639A= (p.Ser1213=)
c.3600A= (p.Ser1200=)
c.3990A= (p.Ser1330=)
c.3897A= (p.Ser1299=)
c.3372A= (p.Ser1124=)
c.3687A= (p.Ser1229=)
n.8259A=
3g.9475638A>CCA432528734SETD5n.2831A>C
c.3972A>C (p.Ser1324=)
n.4865A>C
n.2256A>C
n.6673A>C
n.6118A>C
c.3876A>C (p.Ser1292=)
c.*4022A>C (n.*4022A>C)
c.*3945A>C (n.*3945A>C)
c.*4250A>C (n.*4250A>C)
c.*3981A>C (n.*3981A>C)
c.3582A>C (p.Ser1194=)
c.2722+482A>C
c.3933A>C (p.Ser1311=)
c.2912A>C
n.1007A>C
n.3217A>C
n.263A>C
n.4040A>C
c.4050A>C (p.Ser1350=)
c.4029A>C (p.Ser1343=)
c.4011A>C (p.Ser1337=)
c.3993A>C (p.Ser1331=)
c.3954A>C (p.Ser1318=)
c.3915A>C (p.Ser1305=)
c.3639A>C (p.Ser1213=)
c.3600A>C (p.Ser1200=)
c.3990A>C (p.Ser1330=)
c.3897A>C (p.Ser1299=)
c.3372A>C (p.Ser1124=)
c.3687A>C (p.Ser1229=)
n.8259A>C
3g.9475638A>GCA432528735SETD5n.2831A>G
c.3972A>G (p.Ser1324=)
n.4865A>G
n.2256A>G
n.6673A>G
n.6118A>G
c.3876A>G (p.Ser1292=)
c.*4022A>G (n.*4022A>G)
c.*3945A>G (n.*3945A>G)
c.*4250A>G (n.*4250A>G)
c.*3981A>G (n.*3981A>G)
c.3582A>G (p.Ser1194=)
c.2722+482A>G
c.3933A>G (p.Ser1311=)
c.2912A>G
n.1007A>G
n.3217A>G
n.263A>G
n.4040A>G
c.4050A>G (p.Ser1350=)
c.4029A>G (p.Ser1343=)
c.4011A>G (p.Ser1337=)
c.3993A>G (p.Ser1331=)
c.3954A>G (p.Ser1318=)
c.3915A>G (p.Ser1305=)
c.3639A>G (p.Ser1213=)
c.3600A>G (p.Ser1200=)
c.3990A>G (p.Ser1330=)
c.3897A>G (p.Ser1299=)
c.3372A>G (p.Ser1124=)
c.3687A>G (p.Ser1229=)
n.8259A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.9475638A>TCA432528738SETD5n.2831A>T
c.3972A>T (p.Ser1324=)
n.4865A>T
n.2256A>T
n.6673A>T
n.6118A>T
c.3876A>T (p.Ser1292=)
c.*4022A>T (n.*4022A>T)
c.*3945A>T (n.*3945A>T)
c.*4250A>T (n.*4250A>T)
c.*3981A>T (n.*3981A>T)
c.3582A>T (p.Ser1194=)
c.2722+482A>T
c.3933A>T (p.Ser1311=)
c.2912A>T
n.1007A>T
n.3217A>T
n.263A>T
n.4040A>T
c.4050A>T (p.Ser1350=)
c.4029A>T (p.Ser1343=)
c.4011A>T (p.Ser1337=)
c.3993A>T (p.Ser1331=)
c.3954A>T (p.Ser1318=)
c.3915A>T (p.Ser1305=)
c.3639A>T (p.Ser1213=)
c.3600A>T (p.Ser1200=)
c.3990A>T (p.Ser1330=)
c.3897A>T (p.Ser1299=)
c.3372A>T (p.Ser1124=)
c.3687A>T (p.Ser1229=)
n.8259A>T
3g.9475639T>ACA351691924SETD5n.2832T>A
c.3973T>A (p.Ser1325Thr)
n.4866T>A
n.2257T>A
n.6674T>A
n.6119T>A
c.3877T>A (p.Ser1293Thr)
c.*4023T>A (n.*4023T>A)
c.*3946T>A (n.*3946T>A)
c.*4251T>A (n.*4251T>A)
c.*3982T>A (n.*3982T>A)
c.3583T>A (p.Ser1195Thr)
c.2722+483T>A
c.3934T>A (p.Ser1312Thr)
c.2913T>A
n.1008T>A
n.3218T>A
n.264T>A
n.4041T>A
c.4051T>A (p.Ser1351Thr)
c.4030T>A (p.Ser1344Thr)
c.4012T>A (p.Ser1338Thr)
c.3994T>A (p.Ser1332Thr)
c.3955T>A (p.Ser1319Thr)
c.3916T>A (p.Ser1306Thr)
c.3640T>A (p.Ser1214Thr)
c.3601T>A (p.Ser1201Thr)
c.3991T>A (p.Ser1331Thr)
c.3898T>A (p.Ser1300Thr)
c.3373T>A (p.Ser1125Thr)
c.3688T>A (p.Ser1230Thr)
n.8260T>A
3g.9475639T>CCA351691927SETD5n.2832T>C
c.3973T>C (p.Ser1325Pro)
n.4866T>C
n.2257T>C
n.6674T>C
n.6119T>C
c.3877T>C (p.Ser1293Pro)
c.*4023T>C (n.*4023T>C)
c.*3946T>C (n.*3946T>C)
c.*4251T>C (n.*4251T>C)
c.*3982T>C (n.*3982T>C)
c.3583T>C (p.Ser1195Pro)
c.2722+483T>C
c.3934T>C (p.Ser1312Pro)
c.2913T>C
n.1008T>C
n.3218T>C
n.264T>C
n.4041T>C
c.4051T>C (p.Ser1351Pro)
c.4030T>C (p.Ser1344Pro)
c.4012T>C (p.Ser1338Pro)
c.3994T>C (p.Ser1332Pro)
c.3955T>C (p.Ser1319Pro)
c.3916T>C (p.Ser1306Pro)
c.3640T>C (p.Ser1214Pro)
c.3601T>C (p.Ser1201Pro)
c.3991T>C (p.Ser1331Pro)
c.3898T>C (p.Ser1300Pro)
c.3373T>C (p.Ser1125Pro)
c.3688T>C (p.Ser1230Pro)
n.8260T>C
3g.9475639T>GCA351691932SETD5n.2832T>G
c.3973T>G (p.Ser1325Ala)
n.4866T>G
n.2257T>G
n.6674T>G
n.6119T>G
c.3877T>G (p.Ser1293Ala)
c.*4023T>G (n.*4023T>G)
c.*3946T>G (n.*3946T>G)
c.*4251T>G (n.*4251T>G)
c.*3982T>G (n.*3982T>G)
c.3583T>G (p.Ser1195Ala)
c.2722+483T>G
c.3934T>G (p.Ser1312Ala)
c.2913T>G
n.1008T>G
n.3218T>G
n.264T>G
n.4041T>G
c.4051T>G (p.Ser1351Ala)
c.4030T>G (p.Ser1344Ala)
c.4012T>G (p.Ser1338Ala)
c.3994T>G (p.Ser1332Ala)
c.3955T>G (p.Ser1319Ala)
c.3916T>G (p.Ser1306Ala)
c.3640T>G (p.Ser1214Ala)
c.3601T>G (p.Ser1201Ala)
c.3991T>G (p.Ser1331Ala)
c.3898T>G (p.Ser1300Ala)
c.3373T>G (p.Ser1125Ala)
c.3688T>G (p.Ser1230Ala)
n.8260T>G
3g.9475640C>ACA351691937SETD5n.2833C>A
c.3974C>A (p.Ser1325Tyr)
n.4867C>A
n.2258C>A
n.6675C>A
n.6120C>A
c.3878C>A (p.Ser1293Tyr)
c.*4024C>A (n.*4024C>A)
c.*3947C>A (n.*3947C>A)
c.*4252C>A (n.*4252C>A)
c.*3983C>A (n.*3983C>A)
c.3584C>A (p.Ser1195Tyr)
c.2722+484C>A
c.3935C>A (p.Ser1312Tyr)
c.2914C>A
n.1009C>A
n.3219C>A
n.265C>A
n.4042C>A
c.4052C>A (p.Ser1351Tyr)
c.4031C>A (p.Ser1344Tyr)
c.4013C>A (p.Ser1338Tyr)
c.3995C>A (p.Ser1332Tyr)
c.3956C>A (p.Ser1319Tyr)
c.3917C>A (p.Ser1306Tyr)
c.3641C>A (p.Ser1214Tyr)
c.3602C>A (p.Ser1201Tyr)
c.3992C>A (p.Ser1331Tyr)
c.3899C>A (p.Ser1300Tyr)
c.3374C>A (p.Ser1125Tyr)
c.3689C>A (p.Ser1230Tyr)
n.8261C>A
3g.9475640C>GCA351691939SETD5n.2833C>G
c.3974C>G (p.Ser1325Cys)
n.4867C>G
n.2258C>G
n.6675C>G
n.6120C>G
c.3878C>G (p.Ser1293Cys)
c.*4024C>G (n.*4024C>G)
c.*3947C>G (n.*3947C>G)
c.*4252C>G (n.*4252C>G)
c.*3983C>G (n.*3983C>G)
c.3584C>G (p.Ser1195Cys)
c.2722+484C>G
c.3935C>G (p.Ser1312Cys)
c.2914C>G
n.1009C>G
n.3219C>G
n.265C>G
n.4042C>G
c.4052C>G (p.Ser1351Cys)
c.4031C>G (p.Ser1344Cys)
c.4013C>G (p.Ser1338Cys)
c.3995C>G (p.Ser1332Cys)
c.3956C>G (p.Ser1319Cys)
c.3917C>G (p.Ser1306Cys)
c.3641C>G (p.Ser1214Cys)
c.3602C>G (p.Ser1201Cys)
c.3992C>G (p.Ser1331Cys)
c.3899C>G (p.Ser1300Cys)
c.3374C>G (p.Ser1125Cys)
c.3689C>G (p.Ser1230Cys)
n.8261C>G
3g.9475640C>TCA351691943SETD5n.2833C>T
c.3974C>T (p.Ser1325Phe)
n.4867C>T
n.2258C>T
n.6675C>T
n.6120C>T
c.3878C>T (p.Ser1293Phe)
c.*4024C>T (n.*4024C>T)
c.*3947C>T (n.*3947C>T)
c.*4252C>T (n.*4252C>T)
c.*3983C>T (n.*3983C>T)
c.3584C>T (p.Ser1195Phe)
c.2722+484C>T
c.3935C>T (p.Ser1312Phe)
c.2914C>T
n.1009C>T
n.3219C>T
n.265C>T
n.4042C>T
c.4052C>T (p.Ser1351Phe)
c.4031C>T (p.Ser1344Phe)
c.4013C>T (p.Ser1338Phe)
c.3995C>T (p.Ser1332Phe)
c.3956C>T (p.Ser1319Phe)
c.3917C>T (p.Ser1306Phe)
c.3641C>T (p.Ser1214Phe)
c.3602C>T (p.Ser1201Phe)
c.3992C>T (p.Ser1331Phe)
c.3899C>T (p.Ser1300Phe)
c.3374C>T (p.Ser1125Phe)
c.3689C>T (p.Ser1230Phe)
n.8261C>T
 gnomAD v4
3g.9475641C>ACA432528747SETD5n.2834C>A
c.3975C>A (p.Ser1325=)
n.4868C>A
n.2259C>A
n.6676C>A
n.6121C>A
c.3879C>A (p.Ser1293=)
c.*4025C>A (n.*4025C>A)
c.*3948C>A (n.*3948C>A)
c.*4253C>A (n.*4253C>A)
c.*3984C>A (n.*3984C>A)
c.3585C>A (p.Ser1195=)
c.2722+485C>A
c.3936C>A (p.Ser1312=)
c.2915C>A
n.1010C>A
n.3220C>A
n.266C>A
n.4043C>A
c.4053C>A (p.Ser1351=)
c.4032C>A (p.Ser1344=)
c.4014C>A (p.Ser1338=)
c.3996C>A (p.Ser1332=)
c.3957C>A (p.Ser1319=)
c.3918C>A (p.Ser1306=)
c.3642C>A (p.Ser1214=)
c.3603C>A (p.Ser1201=)
c.3993C>A (p.Ser1331=)
c.3900C>A (p.Ser1300=)
c.3375C>A (p.Ser1125=)
c.3690C>A (p.Ser1230=)
n.8262C>A
3g.9475641C>GCA432528750SETD5n.2834C>G
c.3975C>G (p.Ser1325=)
n.4868C>G
n.2259C>G
n.6676C>G
n.6121C>G
c.3879C>G (p.Ser1293=)
c.*4025C>G (n.*4025C>G)
c.*3948C>G (n.*3948C>G)
c.*4253C>G (n.*4253C>G)
c.*3984C>G (n.*3984C>G)
c.3585C>G (p.Ser1195=)
c.2722+485C>G
c.3936C>G (p.Ser1312=)
c.2915C>G
n.1010C>G
n.3220C>G
n.266C>G
n.4043C>G
c.4053C>G (p.Ser1351=)
c.4032C>G (p.Ser1344=)
c.4014C>G (p.Ser1338=)
c.3996C>G (p.Ser1332=)
c.3957C>G (p.Ser1319=)
c.3918C>G (p.Ser1306=)
c.3642C>G (p.Ser1214=)
c.3603C>G (p.Ser1201=)
c.3993C>G (p.Ser1331=)
c.3900C>G (p.Ser1300=)
c.3375C>G (p.Ser1125=)
c.3690C>G (p.Ser1230=)
n.8262C>G
3g.9475641C>TCA432528751SETD5n.2834C>T
c.3975C>T (p.Ser1325=)
n.4868C>T
n.2259C>T
n.6676C>T
n.6121C>T
c.3879C>T (p.Ser1293=)
c.*4025C>T (n.*4025C>T)
c.*3948C>T (n.*3948C>T)
c.*4253C>T (n.*4253C>T)
c.*3984C>T (n.*3984C>T)
c.3585C>T (p.Ser1195=)
c.2722+485C>T
c.3936C>T (p.Ser1312=)
c.2915C>T
n.1010C>T
n.3220C>T
n.266C>T
n.4043C>T
c.4053C>T (p.Ser1351=)
c.4032C>T (p.Ser1344=)
c.4014C>T (p.Ser1338=)
c.3996C>T (p.Ser1332=)
c.3957C>T (p.Ser1319=)
c.3918C>T (p.Ser1306=)
c.3642C>T (p.Ser1214=)
c.3603C>T (p.Ser1201=)
c.3993C>T (p.Ser1331=)
c.3900C>T (p.Ser1300=)
c.3375C>T (p.Ser1125=)
c.3690C>T (p.Ser1230=)
n.8262C>T
 gnomAD v4
3g.9475642C>ACA351691969SETD5n.2835C>A
c.3976C>A (p.Leu1326Ile)
n.4869C>A
n.2260C>A
n.6677C>A
n.6122C>A
c.3880C>A (p.Leu1294Ile)
c.*4026C>A (n.*4026C>A)
c.*3949C>A (n.*3949C>A)
c.*4254C>A (n.*4254C>A)
c.*3985C>A (n.*3985C>A)
c.3586C>A (p.Leu1196Ile)
c.2722+486C>A
c.3937C>A (p.Leu1313Ile)
c.2916C>A
n.1011C>A
n.3221C>A
n.267C>A
n.4044C>A
c.4054C>A (p.Leu1352Ile)
c.4033C>A (p.Leu1345Ile)
c.4015C>A (p.Leu1339Ile)
c.3997C>A (p.Leu1333Ile)
c.3958C>A (p.Leu1320Ile)
c.3919C>A (p.Leu1307Ile)
c.3643C>A (p.Leu1215Ile)
c.3604C>A (p.Leu1202Ile)
c.3994C>A (p.Leu1332Ile)
c.3901C>A (p.Leu1301Ile)
c.3376C>A (p.Leu1126Ile)
c.3691C>A (p.Leu1231Ile)
n.8263C>A
3g.9475642C=CA1344742559SETD5n.2835C=
c.3976C= (p.Leu1326=)
n.4869C=
n.2260C=
n.6677C=
n.6122C=
c.3880C= (p.Leu1294=)
c.*4026C= (n.*4026C=)
c.*3949C= (n.*3949C=)
c.*4254C= (n.*4254C=)
c.*3985C= (n.*3985C=)
c.3586C= (p.Leu1196=)
c.2722+486C=
c.3937C= (p.Leu1313=)
c.2916C=
n.1011C=
n.3221C=
n.267C=
n.4044C=
c.4054C= (p.Leu1352=)
c.4033C= (p.Leu1345=)
c.4015C= (p.Leu1339=)
c.3997C= (p.Leu1333=)
c.3958C= (p.Leu1320=)
c.3919C= (p.Leu1307=)
c.3643C= (p.Leu1215=)
c.3604C= (p.Leu1202=)
c.3994C= (p.Leu1332=)
c.3901C= (p.Leu1301=)
c.3376C= (p.Leu1126=)
c.3691C= (p.Leu1231=)
n.8263C=
3g.9475642C>GCA351691952SETD5n.2835C>G
c.3976C>G (p.Leu1326Val)
n.4869C>G
n.2260C>G
n.6677C>G
n.6122C>G
c.3880C>G (p.Leu1294Val)
c.*4026C>G (n.*4026C>G)
c.*3949C>G (n.*3949C>G)
c.*4254C>G (n.*4254C>G)
c.*3985C>G (n.*3985C>G)
c.3586C>G (p.Leu1196Val)
c.2722+486C>G
c.3937C>G (p.Leu1313Val)
c.2916C>G
n.1011C>G
n.3221C>G
n.267C>G
n.4044C>G
c.4054C>G (p.Leu1352Val)
c.4033C>G (p.Leu1345Val)
c.4015C>G (p.Leu1339Val)
c.3997C>G (p.Leu1333Val)
c.3958C>G (p.Leu1320Val)
c.3919C>G (p.Leu1307Val)
c.3643C>G (p.Leu1215Val)
c.3604C>G (p.Leu1202Val)
c.3994C>G (p.Leu1332Val)
c.3901C>G (p.Leu1301Val)
c.3376C>G (p.Leu1126Val)
c.3691C>G (p.Leu1231Val)
n.8263C>G
 ClinVar dbSNP
3g.9475642C>TCA351691947SETD5n.2835C>T
c.3976C>T (p.Leu1326Phe)
n.4869C>T
n.2260C>T
n.6677C>T
n.6122C>T
c.3880C>T (p.Leu1294Phe)
c.*4026C>T (n.*4026C>T)
c.*3949C>T (n.*3949C>T)
c.*4254C>T (n.*4254C>T)
c.*3985C>T (n.*3985C>T)
c.3586C>T (p.Leu1196Phe)
c.2722+486C>T
c.3937C>T (p.Leu1313Phe)
c.2916C>T
n.1011C>T
n.3221C>T
n.267C>T
n.4044C>T
c.4054C>T (p.Leu1352Phe)
c.4033C>T (p.Leu1345Phe)
c.4015C>T (p.Leu1339Phe)
c.3997C>T (p.Leu1333Phe)
c.3958C>T (p.Leu1320Phe)
c.3919C>T (p.Leu1307Phe)
c.3643C>T (p.Leu1215Phe)
c.3604C>T (p.Leu1202Phe)
c.3994C>T (p.Leu1332Phe)
c.3901C>T (p.Leu1301Phe)
c.3376C>T (p.Leu1126Phe)
c.3691C>T (p.Leu1231Phe)
n.8263C>T
3g.9475643T>ACA351691977SETD5n.2836T>A
c.3977T>A (p.Leu1326His)
n.4870T>A
n.2261T>A
n.6678T>A
n.6123T>A
c.3881T>A (p.Leu1294His)
c.*4027T>A (n.*4027T>A)
c.*3950T>A (n.*3950T>A)
c.*4255T>A (n.*4255T>A)
c.*3986T>A (n.*3986T>A)
c.3587T>A (p.Leu1196His)
c.2722+487T>A
c.3938T>A (p.Leu1313His)
c.2917T>A
n.1012T>A
n.3222T>A
n.268T>A
n.4045T>A
c.4055T>A (p.Leu1352His)
c.4034T>A (p.Leu1345His)
c.4016T>A (p.Leu1339His)
c.3998T>A (p.Leu1333His)
c.3959T>A (p.Leu1320His)
c.3920T>A (p.Leu1307His)
c.3644T>A (p.Leu1215His)
c.3605T>A (p.Leu1202His)
c.3995T>A (p.Leu1332His)
c.3902T>A (p.Leu1301His)
c.3377T>A (p.Leu1126His)
c.3692T>A (p.Leu1231His)
n.8264T>A
3g.9475643T>CCA351691980SETD5n.2836T>C
c.3977T>C (p.Leu1326Pro)
n.4870T>C
n.2261T>C
n.6678T>C
n.6123T>C
c.3881T>C (p.Leu1294Pro)
c.*4027T>C (n.*4027T>C)
c.*3950T>C (n.*3950T>C)
c.*4255T>C (n.*4255T>C)
c.*3986T>C (n.*3986T>C)
c.3587T>C (p.Leu1196Pro)
c.2722+487T>C
c.3938T>C (p.Leu1313Pro)
c.2917T>C
n.1012T>C
n.3222T>C
n.268T>C
n.4045T>C
c.4055T>C (p.Leu1352Pro)
c.4034T>C (p.Leu1345Pro)
c.4016T>C (p.Leu1339Pro)
c.3998T>C (p.Leu1333Pro)
c.3959T>C (p.Leu1320Pro)
c.3920T>C (p.Leu1307Pro)
c.3644T>C (p.Leu1215Pro)
c.3605T>C (p.Leu1202Pro)
c.3995T>C (p.Leu1332Pro)
c.3902T>C (p.Leu1301Pro)
c.3377T>C (p.Leu1126Pro)
c.3692T>C (p.Leu1231Pro)
n.8264T>C
3g.9475643T>GCA351691983SETD5n.2836T>G
c.3977T>G (p.Leu1326Arg)
n.4870T>G
n.2261T>G
n.6678T>G
n.6123T>G
c.3881T>G (p.Leu1294Arg)
c.*4027T>G (n.*4027T>G)
c.*3950T>G (n.*3950T>G)
c.*4255T>G (n.*4255T>G)
c.*3986T>G (n.*3986T>G)
c.3587T>G (p.Leu1196Arg)
c.2722+487T>G
c.3938T>G (p.Leu1313Arg)
c.2917T>G
n.1012T>G
n.3222T>G
n.268T>G
n.4045T>G
c.4055T>G (p.Leu1352Arg)
c.4034T>G (p.Leu1345Arg)
c.4016T>G (p.Leu1339Arg)
c.3998T>G (p.Leu1333Arg)
c.3959T>G (p.Leu1320Arg)
c.3920T>G (p.Leu1307Arg)
c.3644T>G (p.Leu1215Arg)
c.3605T>G (p.Leu1202Arg)
c.3995T>G (p.Leu1332Arg)
c.3902T>G (p.Leu1301Arg)
c.3377T>G (p.Leu1126Arg)
c.3692T>G (p.Leu1231Arg)
n.8264T>G
3g.9475644C>ACA432528755SETD5n.2837C>A
c.3978C>A (p.Leu1326=)
n.4871C>A
n.2262C>A
n.6679C>A
n.6124C>A
c.3882C>A (p.Leu1294=)
c.*4028C>A (n.*4028C>A)
c.*3951C>A (n.*3951C>A)
c.*4256C>A (n.*4256C>A)
c.*3987C>A (n.*3987C>A)
c.3588C>A (p.Leu1196=)
c.2722+488C>A
c.3939C>A (p.Leu1313=)
c.2918C>A
n.1013C>A
n.3223C>A
n.269C>A
n.4046C>A
c.4056C>A (p.Leu1352=)
c.4035C>A (p.Leu1345=)
c.4017C>A (p.Leu1339=)
c.3999C>A (p.Leu1333=)
c.3960C>A (p.Leu1320=)
c.3921C>A (p.Leu1307=)
c.3645C>A (p.Leu1215=)
c.3606C>A (p.Leu1202=)
c.3996C>A (p.Leu1332=)
c.3903C>A (p.Leu1301=)
c.3378C>A (p.Leu1126=)
c.3693C>A (p.Leu1231=)
n.8265C>A
3g.9475644C=CA1344742564SETD5n.2837C=
c.3978C= (p.Leu1326=)
n.4871C=
n.2262C=
n.6679C=
n.6124C=
c.3882C= (p.Leu1294=)
c.*4028C= (n.*4028C=)
c.*3951C= (n.*3951C=)
c.*4256C= (n.*4256C=)
c.*3987C= (n.*3987C=)
c.3588C= (p.Leu1196=)
c.2722+488C=
c.3939C= (p.Leu1313=)
c.2918C=
n.1013C=
n.3223C=
n.269C=
n.4046C=
c.4056C= (p.Leu1352=)
c.4035C= (p.Leu1345=)
c.4017C= (p.Leu1339=)
c.3999C= (p.Leu1333=)
c.3960C= (p.Leu1320=)
c.3921C= (p.Leu1307=)
c.3645C= (p.Leu1215=)
c.3606C= (p.Leu1202=)
c.3996C= (p.Leu1332=)
c.3903C= (p.Leu1301=)
c.3378C= (p.Leu1126=)
c.3693C= (p.Leu1231=)
n.8265C=
3g.9475644C>GCA69951951SETD5n.2837C>G
c.3978C>G (p.Leu1326=)
n.4871C>G
n.2262C>G
n.6679C>G
n.6124C>G
c.3882C>G (p.Leu1294=)
c.*4028C>G (n.*4028C>G)
c.*3951C>G (n.*3951C>G)
c.*4256C>G (n.*4256C>G)
c.*3987C>G (n.*3987C>G)
c.3588C>G (p.Leu1196=)
c.2722+488C>G
c.3939C>G (p.Leu1313=)
c.2918C>G
n.1013C>G
n.3223C>G
n.269C>G
n.4046C>G
c.4056C>G (p.Leu1352=)
c.4035C>G (p.Leu1345=)
c.4017C>G (p.Leu1339=)
c.3999C>G (p.Leu1333=)
c.3960C>G (p.Leu1320=)
c.3921C>G (p.Leu1307=)
c.3645C>G (p.Leu1215=)
c.3606C>G (p.Leu1202=)
c.3996C>G (p.Leu1332=)
c.3903C>G (p.Leu1301=)
c.3378C>G (p.Leu1126=)
c.3693C>G (p.Leu1231=)
n.8265C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.9475644C>TCA432528756SETD5n.2837C>T
c.3978C>T (p.Leu1326=)
n.4871C>T
n.2262C>T
n.6679C>T
n.6124C>T
c.3882C>T (p.Leu1294=)
c.*4028C>T (n.*4028C>T)
c.*3951C>T (n.*3951C>T)
c.*4256C>T (n.*4256C>T)
c.*3987C>T (n.*3987C>T)
c.3588C>T (p.Leu1196=)
c.2722+488C>T
c.3939C>T (p.Leu1313=)
c.2918C>T
n.1013C>T
n.3223C>T
n.269C>T
n.4046C>T
c.4056C>T (p.Leu1352=)
c.4035C>T (p.Leu1345=)
c.4017C>T (p.Leu1339=)
c.3999C>T (p.Leu1333=)
c.3960C>T (p.Leu1320=)
c.3921C>T (p.Leu1307=)
c.3645C>T (p.Leu1215=)
c.3606C>T (p.Leu1202=)
c.3996C>T (p.Leu1332=)
c.3903C>T (p.Leu1301=)
c.3378C>T (p.Leu1126=)
c.3693C>T (p.Leu1231=)
n.8265C>T
3g.9475645T>ACA351691985SETD5n.2838T>A
c.3979T>A (p.Ser1327Thr)
n.4872T>A
n.2263T>A
n.6680T>A
n.6125T>A
c.3883T>A (p.Ser1295Thr)
c.*4029T>A (n.*4029T>A)
c.*3952T>A (n.*3952T>A)
c.*4257T>A (n.*4257T>A)
c.*3988T>A (n.*3988T>A)
c.3589T>A (p.Ser1197Thr)
c.2722+489T>A
c.3940T>A (p.Ser1314Thr)
c.2919T>A
n.1014T>A
n.3224T>A
n.270T>A
n.4047T>A
c.4057T>A (p.Ser1353Thr)
c.4036T>A (p.Ser1346Thr)
c.4018T>A (p.Ser1340Thr)
c.4000T>A (p.Ser1334Thr)
c.3961T>A (p.Ser1321Thr)
c.3922T>A (p.Ser1308Thr)
c.3646T>A (p.Ser1216Thr)
c.3607T>A (p.Ser1203Thr)
c.3997T>A (p.Ser1333Thr)
c.3904T>A (p.Ser1302Thr)
c.3379T>A (p.Ser1127Thr)
c.3694T>A (p.Ser1232Thr)
n.8266T>A
3g.9475645T>CCA351691990SETD5n.2838T>C
c.3979T>C (p.Ser1327Pro)
n.4872T>C
n.2263T>C
n.6680T>C
n.6125T>C
c.3883T>C (p.Ser1295Pro)
c.*4029T>C (n.*4029T>C)
c.*3952T>C (n.*3952T>C)
c.*4257T>C (n.*4257T>C)
c.*3988T>C (n.*3988T>C)
c.3589T>C (p.Ser1197Pro)
c.2722+489T>C
c.3940T>C (p.Ser1314Pro)
c.2919T>C
n.1014T>C
n.3224T>C
n.270T>C
n.4047T>C
c.4057T>C (p.Ser1353Pro)
c.4036T>C (p.Ser1346Pro)
c.4018T>C (p.Ser1340Pro)
c.4000T>C (p.Ser1334Pro)
c.3961T>C (p.Ser1321Pro)
c.3922T>C (p.Ser1308Pro)
c.3646T>C (p.Ser1216Pro)
c.3607T>C (p.Ser1203Pro)
c.3997T>C (p.Ser1333Pro)
c.3904T>C (p.Ser1302Pro)
c.3379T>C (p.Ser1127Pro)
c.3694T>C (p.Ser1232Pro)
n.8266T>C
3g.9475645T>GCA351691993SETD5n.2838T>G
c.3979T>G (p.Ser1327Ala)
n.4872T>G
n.2263T>G
n.6680T>G
n.6125T>G
c.3883T>G (p.Ser1295Ala)
c.*4029T>G (n.*4029T>G)
c.*3952T>G (n.*3952T>G)
c.*4257T>G (n.*4257T>G)
c.*3988T>G (n.*3988T>G)
c.3589T>G (p.Ser1197Ala)
c.2722+489T>G
c.3940T>G (p.Ser1314Ala)
c.2919T>G
n.1014T>G
n.3224T>G
n.270T>G
n.4047T>G
c.4057T>G (p.Ser1353Ala)
c.4036T>G (p.Ser1346Ala)
c.4018T>G (p.Ser1340Ala)
c.4000T>G (p.Ser1334Ala)
c.3961T>G (p.Ser1321Ala)
c.3922T>G (p.Ser1308Ala)
c.3646T>G (p.Ser1216Ala)
c.3607T>G (p.Ser1203Ala)
c.3997T>G (p.Ser1333Ala)
c.3904T>G (p.Ser1302Ala)
c.3379T>G (p.Ser1127Ala)
c.3694T>G (p.Ser1232Ala)
n.8266T>G
3g.9475646C>ACA351692001SETD5n.2839C>A
c.3980C>A (p.Ser1327Tyr)
n.4873C>A
n.2264C>A
n.6681C>A
n.6126C>A
c.3884C>A (p.Ser1295Tyr)
c.*4030C>A (n.*4030C>A)
c.*3953C>A (n.*3953C>A)
c.*4258C>A (n.*4258C>A)
c.*3989C>A (n.*3989C>A)
c.3590C>A (p.Ser1197Tyr)
c.2722+490C>A
c.3941C>A (p.Ser1314Tyr)
c.2920C>A
n.1015C>A
n.3225C>A
n.271C>A
n.4048C>A
c.4058C>A (p.Ser1353Tyr)
c.4037C>A (p.Ser1346Tyr)
c.4019C>A (p.Ser1340Tyr)
c.4001C>A (p.Ser1334Tyr)
c.3962C>A (p.Ser1321Tyr)
c.3923C>A (p.Ser1308Tyr)
c.3647C>A (p.Ser1216Tyr)
c.3608C>A (p.Ser1203Tyr)
c.3998C>A (p.Ser1333Tyr)
c.3905C>A (p.Ser1302Tyr)
c.3380C>A (p.Ser1127Tyr)
c.3695C>A (p.Ser1232Tyr)
n.8267C>A
3g.9475646C>GCA351692011SETD5n.2839C>G
c.3980C>G (p.Ser1327Cys)
n.4873C>G
n.2264C>G
n.6681C>G
n.6126C>G
c.3884C>G (p.Ser1295Cys)
c.*4030C>G (n.*4030C>G)
c.*3953C>G (n.*3953C>G)
c.*4258C>G (n.*4258C>G)
c.*3989C>G (n.*3989C>G)
c.3590C>G (p.Ser1197Cys)
c.2722+490C>G
c.3941C>G (p.Ser1314Cys)
c.2920C>G
n.1015C>G
n.3225C>G
n.271C>G
n.4048C>G
c.4058C>G (p.Ser1353Cys)
c.4037C>G (p.Ser1346Cys)
c.4019C>G (p.Ser1340Cys)
c.4001C>G (p.Ser1334Cys)
c.3962C>G (p.Ser1321Cys)
c.3923C>G (p.Ser1308Cys)
c.3647C>G (p.Ser1216Cys)
c.3608C>G (p.Ser1203Cys)
c.3998C>G (p.Ser1333Cys)
c.3905C>G (p.Ser1302Cys)
c.3380C>G (p.Ser1127Cys)
c.3695C>G (p.Ser1232Cys)
n.8267C>G
3g.9475646C>TCA351692007SETD5n.2839C>T
c.3980C>T (p.Ser1327Phe)
n.4873C>T
n.2264C>T
n.6681C>T
n.6126C>T
c.3884C>T (p.Ser1295Phe)
c.*4030C>T (n.*4030C>T)
c.*3953C>T (n.*3953C>T)
c.*4258C>T (n.*4258C>T)
c.*3989C>T (n.*3989C>T)
c.3590C>T (p.Ser1197Phe)
c.2722+490C>T
c.3941C>T (p.Ser1314Phe)
c.2920C>T
n.1015C>T
n.3225C>T
n.271C>T
n.4048C>T
c.4058C>T (p.Ser1353Phe)
c.4037C>T (p.Ser1346Phe)
c.4019C>T (p.Ser1340Phe)
c.4001C>T (p.Ser1334Phe)
c.3962C>T (p.Ser1321Phe)
c.3923C>T (p.Ser1308Phe)
c.3647C>T (p.Ser1216Phe)
c.3608C>T (p.Ser1203Phe)
c.3998C>T (p.Ser1333Phe)
c.3905C>T (p.Ser1302Phe)
c.3380C>T (p.Ser1127Phe)
c.3695C>T (p.Ser1232Phe)
n.8267C>T
 ClinVar dbSNP
3g.9475647T>ACA432528765SETD5n.2840T>A
c.3981T>A (p.Ser1327=)
n.4874T>A
n.2265T>A
n.6682T>A
n.6127T>A
c.3885T>A (p.Ser1295=)
c.*4031T>A (n.*4031T>A)
c.*3954T>A (n.*3954T>A)
c.*4259T>A (n.*4259T>A)
c.*3990T>A (n.*3990T>A)
c.3591T>A (p.Ser1197=)
c.2722+491T>A
c.3942T>A (p.Ser1314=)
c.2921T>A
n.1016T>A
n.3226T>A
n.272T>A
n.4049T>A
c.4059T>A (p.Ser1353=)
c.4038T>A (p.Ser1346=)
c.4020T>A (p.Ser1340=)
c.4002T>A (p.Ser1334=)
c.3963T>A (p.Ser1321=)
c.3924T>A (p.Ser1308=)
c.3648T>A (p.Ser1216=)
c.3609T>A (p.Ser1203=)
c.3999T>A (p.Ser1333=)
c.3906T>A (p.Ser1302=)
c.3381T>A (p.Ser1127=)
c.3696T>A (p.Ser1232=)
n.8268T>A
3g.9475647T>CCA432528766SETD5n.2840T>C
c.3981T>C (p.Ser1327=)
n.4874T>C
n.2265T>C
n.6682T>C
n.6127T>C
c.3885T>C (p.Ser1295=)
c.*4031T>C (n.*4031T>C)
c.*3954T>C (n.*3954T>C)
c.*4259T>C (n.*4259T>C)
c.*3990T>C (n.*3990T>C)
c.3591T>C (p.Ser1197=)
c.2722+491T>C
c.3942T>C (p.Ser1314=)
c.2921T>C
n.1016T>C
n.3226T>C
n.272T>C
n.4049T>C
c.4059T>C (p.Ser1353=)
c.4038T>C (p.Ser1346=)
c.4020T>C (p.Ser1340=)
c.4002T>C (p.Ser1334=)
c.3963T>C (p.Ser1321=)
c.3924T>C (p.Ser1308=)
c.3648T>C (p.Ser1216=)
c.3609T>C (p.Ser1203=)
c.3999T>C (p.Ser1333=)
c.3906T>C (p.Ser1302=)
c.3381T>C (p.Ser1127=)
c.3696T>C (p.Ser1232=)
n.8268T>C
3g.9475647T>GCA432528767SETD5n.2840T>G
c.3981T>G (p.Ser1327=)
n.4874T>G
n.2265T>G
n.6682T>G
n.6127T>G
c.3885T>G (p.Ser1295=)
c.*4031T>G (n.*4031T>G)
c.*3954T>G (n.*3954T>G)
c.*4259T>G (n.*4259T>G)
c.*3990T>G (n.*3990T>G)
c.3591T>G (p.Ser1197=)
c.2722+491T>G
c.3942T>G (p.Ser1314=)
c.2921T>G
n.1016T>G
n.3226T>G
n.272T>G
n.4049T>G
c.4059T>G (p.Ser1353=)
c.4038T>G (p.Ser1346=)
c.4020T>G (p.Ser1340=)
c.4002T>G (p.Ser1334=)
c.3963T>G (p.Ser1321=)
c.3924T>G (p.Ser1308=)
c.3648T>G (p.Ser1216=)
c.3609T>G (p.Ser1203=)
c.3999T>G (p.Ser1333=)
c.3906T>G (p.Ser1302=)
c.3381T>G (p.Ser1127=)
c.3696T>G (p.Ser1232=)
n.8268T>G
3g.9475648T>ACA351692014SETD5n.2841T>A
c.3982T>A (p.Ser1328Thr)
n.4875T>A
n.2266T>A
n.6683T>A
n.6128T>A
c.3886T>A (p.Ser1296Thr)
c.*4032T>A (n.*4032T>A)
c.*3955T>A (n.*3955T>A)
c.*4260T>A (n.*4260T>A)
c.*3991T>A (n.*3991T>A)
c.3592T>A (p.Ser1198Thr)
c.2722+492T>A
c.3943T>A (p.Ser1315Thr)
c.2922T>A
n.1017T>A
n.3227T>A
n.273T>A
n.4050T>A
c.4060T>A (p.Ser1354Thr)
c.4039T>A (p.Ser1347Thr)
c.4021T>A (p.Ser1341Thr)
c.4003T>A (p.Ser1335Thr)
c.3964T>A (p.Ser1322Thr)
c.3925T>A (p.Ser1309Thr)
c.3649T>A (p.Ser1217Thr)
c.3610T>A (p.Ser1204Thr)
c.4000T>A (p.Ser1334Thr)
c.3907T>A (p.Ser1303Thr)
c.3382T>A (p.Ser1128Thr)
c.3697T>A (p.Ser1233Thr)
n.8269T>A
3g.9475648T>CCA351692016SETD5n.2841T>C
c.3982T>C (p.Ser1328Pro)
n.4875T>C
n.2266T>C
n.6683T>C
n.6128T>C
c.3886T>C (p.Ser1296Pro)
c.*4032T>C (n.*4032T>C)
c.*3955T>C (n.*3955T>C)
c.*4260T>C (n.*4260T>C)
c.*3991T>C (n.*3991T>C)
c.3592T>C (p.Ser1198Pro)
c.2722+492T>C
c.3943T>C (p.Ser1315Pro)
c.2922T>C
n.1017T>C
n.3227T>C
n.273T>C
n.4050T>C
c.4060T>C (p.Ser1354Pro)
c.4039T>C (p.Ser1347Pro)
c.4021T>C (p.Ser1341Pro)
c.4003T>C (p.Ser1335Pro)
c.3964T>C (p.Ser1322Pro)
c.3925T>C (p.Ser1309Pro)
c.3649T>C (p.Ser1217Pro)
c.3610T>C (p.Ser1204Pro)
c.4000T>C (p.Ser1334Pro)
c.3907T>C (p.Ser1303Pro)
c.3382T>C (p.Ser1128Pro)
c.3697T>C (p.Ser1233Pro)
n.8269T>C
 gnomAD v4
3g.9475648T>GCA351692019SETD5n.2841T>G
c.3982T>G (p.Ser1328Ala)
n.4875T>G
n.2266T>G
n.6683T>G
n.6128T>G
c.3886T>G (p.Ser1296Ala)
c.*4032T>G (n.*4032T>G)
c.*3955T>G (n.*3955T>G)
c.*4260T>G (n.*4260T>G)
c.*3991T>G (n.*3991T>G)
c.3592T>G (p.Ser1198Ala)
c.2722+492T>G
c.3943T>G (p.Ser1315Ala)
c.2922T>G
n.1017T>G
n.3227T>G
n.273T>G
n.4050T>G
c.4060T>G (p.Ser1354Ala)
c.4039T>G (p.Ser1347Ala)
c.4021T>G (p.Ser1341Ala)
c.4003T>G (p.Ser1335Ala)
c.3964T>G (p.Ser1322Ala)
c.3925T>G (p.Ser1309Ala)
c.3649T>G (p.Ser1217Ala)
c.3610T>G (p.Ser1204Ala)
c.4000T>G (p.Ser1334Ala)
c.3907T>G (p.Ser1303Ala)
c.3382T>G (p.Ser1128Ala)
c.3697T>G (p.Ser1233Ala)
n.8269T>G
3g.9475649C>ACA351692023SETD5n.2842C>A
c.3983C>A (p.Ser1328Tyr)
n.4876C>A
n.2267C>A
n.6684C>A
n.6129C>A
c.3887C>A (p.Ser1296Tyr)
c.*4033C>A (n.*4033C>A)
c.*3956C>A (n.*3956C>A)
c.*4261C>A (n.*4261C>A)
c.*3992C>A (n.*3992C>A)
c.3593C>A (p.Ser1198Tyr)
c.2722+493C>A
c.3944C>A (p.Ser1315Tyr)
c.2923C>A
n.1018C>A
n.3228C>A
n.274C>A
n.4051C>A
c.4061C>A (p.Ser1354Tyr)
c.4040C>A (p.Ser1347Tyr)
c.4022C>A (p.Ser1341Tyr)
c.4004C>A (p.Ser1335Tyr)
c.3965C>A (p.Ser1322Tyr)
c.3926C>A (p.Ser1309Tyr)
c.3650C>A (p.Ser1217Tyr)
c.3611C>A (p.Ser1204Tyr)
c.4001C>A (p.Ser1334Tyr)
c.3908C>A (p.Ser1303Tyr)
c.3383C>A (p.Ser1128Tyr)
c.3698C>A (p.Ser1233Tyr)
n.8270C>A
3g.9475649C>GCA351692027SETD5n.2842C>G
c.3983C>G (p.Ser1328Cys)
n.4876C>G
n.2267C>G
n.6684C>G
n.6129C>G
c.3887C>G (p.Ser1296Cys)
c.*4033C>G (n.*4033C>G)
c.*3956C>G (n.*3956C>G)
c.*4261C>G (n.*4261C>G)
c.*3992C>G (n.*3992C>G)
c.3593C>G (p.Ser1198Cys)
c.2722+493C>G
c.3944C>G (p.Ser1315Cys)
c.2923C>G
n.1018C>G
n.3228C>G
n.274C>G
n.4051C>G
c.4061C>G (p.Ser1354Cys)
c.4040C>G (p.Ser1347Cys)
c.4022C>G (p.Ser1341Cys)
c.4004C>G (p.Ser1335Cys)
c.3965C>G (p.Ser1322Cys)
c.3926C>G (p.Ser1309Cys)
c.3650C>G (p.Ser1217Cys)
c.3611C>G (p.Ser1204Cys)
c.4001C>G (p.Ser1334Cys)
c.3908C>G (p.Ser1303Cys)
c.3383C>G (p.Ser1128Cys)
c.3698C>G (p.Ser1233Cys)
n.8270C>G
3g.9475649C>TCA351692029SETD5n.2842C>T
c.3983C>T (p.Ser1328Phe)
n.4876C>T
n.2267C>T
n.6684C>T
n.6129C>T
c.3887C>T (p.Ser1296Phe)
c.*4033C>T (n.*4033C>T)
c.*3956C>T (n.*3956C>T)
c.*4261C>T (n.*4261C>T)
c.*3992C>T (n.*3992C>T)
c.3593C>T (p.Ser1198Phe)
c.2722+493C>T
c.3944C>T (p.Ser1315Phe)
c.2923C>T
n.1018C>T
n.3228C>T
n.274C>T
n.4051C>T
c.4061C>T (p.Ser1354Phe)
c.4040C>T (p.Ser1347Phe)
c.4022C>T (p.Ser1341Phe)
c.4004C>T (p.Ser1335Phe)
c.3965C>T (p.Ser1322Phe)
c.3926C>T (p.Ser1309Phe)
c.3650C>T (p.Ser1217Phe)
c.3611C>T (p.Ser1204Phe)
c.4001C>T (p.Ser1334Phe)
c.3908C>T (p.Ser1303Phe)
c.3383C>T (p.Ser1128Phe)
c.3698C>T (p.Ser1233Phe)
n.8270C>T
3g.9475650C>ACA432528775SETD5n.2843C>A
c.3984C>A (p.Ser1328=)
n.4877C>A
n.2268C>A
n.6685C>A
n.6130C>A
c.3888C>A (p.Ser1296=)
c.*4034C>A (n.*4034C>A)
c.*3957C>A (n.*3957C>A)
c.*4262C>A (n.*4262C>A)
c.*3993C>A (n.*3993C>A)
c.3594C>A (p.Ser1198=)
c.2722+494C>A
c.3945C>A (p.Ser1315=)
c.2924C>A
n.1019C>A
n.3229C>A
n.275C>A
n.4052C>A
c.4062C>A (p.Ser1354=)
c.4041C>A (p.Ser1347=)
c.4023C>A (p.Ser1341=)
c.4005C>A (p.Ser1335=)
c.3966C>A (p.Ser1322=)
c.3927C>A (p.Ser1309=)
c.3651C>A (p.Ser1217=)
c.3612C>A (p.Ser1204=)
c.4002C>A (p.Ser1334=)
c.3909C>A (p.Ser1303=)
c.3384C>A (p.Ser1128=)
c.3699C>A (p.Ser1233=)
n.8271C>A
3g.9475650C=CA1344742566SETD5n.2843C=
c.3984C= (p.Ser1328=)
n.4877C=
n.2268C=
n.6685C=
n.6130C=
c.3888C= (p.Ser1296=)
c.*4034C= (n.*4034C=)
c.*3957C= (n.*3957C=)
c.*4262C= (n.*4262C=)
c.*3993C= (n.*3993C=)
c.3594C= (p.Ser1198=)
c.2722+494C=
c.3945C= (p.Ser1315=)
c.2924C=
n.1019C=
n.3229C=
n.275C=
n.4052C=
c.4062C= (p.Ser1354=)
c.4041C= (p.Ser1347=)
c.4023C= (p.Ser1341=)
c.4005C= (p.Ser1335=)
c.3966C= (p.Ser1322=)
c.3927C= (p.Ser1309=)
c.3651C= (p.Ser1217=)
c.3612C= (p.Ser1204=)
c.4002C= (p.Ser1334=)
c.3909C= (p.Ser1303=)
c.3384C= (p.Ser1128=)
c.3699C= (p.Ser1233=)
n.8271C=
3g.9475650C>GCA432528776SETD5n.2843C>G
c.3984C>G (p.Ser1328=)
n.4877C>G
n.2268C>G
n.6685C>G
n.6130C>G
c.3888C>G (p.Ser1296=)
c.*4034C>G (n.*4034C>G)
c.*3957C>G (n.*3957C>G)
c.*4262C>G (n.*4262C>G)
c.*3993C>G (n.*3993C>G)
c.3594C>G (p.Ser1198=)
c.2722+494C>G
c.3945C>G (p.Ser1315=)
c.2924C>G
n.1019C>G
n.3229C>G
n.275C>G
n.4052C>G
c.4062C>G (p.Ser1354=)
c.4041C>G (p.Ser1347=)
c.4023C>G (p.Ser1341=)
c.4005C>G (p.Ser1335=)
c.3966C>G (p.Ser1322=)
c.3927C>G (p.Ser1309=)
c.3651C>G (p.Ser1217=)
c.3612C>G (p.Ser1204=)
c.4002C>G (p.Ser1334=)
c.3909C>G (p.Ser1303=)
c.3384C>G (p.Ser1128=)
c.3699C>G (p.Ser1233=)
n.8271C>G
3g.9475650C>TCA432528777SETD5n.2843C>T
c.3984C>T (p.Ser1328=)
n.4877C>T
n.2268C>T
n.6685C>T
n.6130C>T
c.3888C>T (p.Ser1296=)
c.*4034C>T (n.*4034C>T)
c.*3957C>T (n.*3957C>T)
c.*4262C>T (n.*4262C>T)
c.*3993C>T (n.*3993C>T)
c.3594C>T (p.Ser1198=)
c.2722+494C>T
c.3945C>T (p.Ser1315=)
c.2924C>T
n.1019C>T
n.3229C>T
n.275C>T
n.4052C>T
c.4062C>T (p.Ser1354=)
c.4041C>T (p.Ser1347=)
c.4023C>T (p.Ser1341=)
c.4005C>T (p.Ser1335=)
c.3966C>T (p.Ser1322=)
c.3927C>T (p.Ser1309=)
c.3651C>T (p.Ser1217=)
c.3612C>T (p.Ser1204=)
c.4002C>T (p.Ser1334=)
c.3909C>T (p.Ser1303=)
c.3384C>T (p.Ser1128=)
c.3699C>T (p.Ser1233=)
n.8271C>T
 dbSNP gnomAD v4
3g.9475651A>CCA351692031SETD5n.2844A>C
c.3985A>C (p.Thr1329Pro)
n.4878A>C
n.2269A>C
n.6686A>C
n.6131A>C
c.3889A>C (p.Thr1297Pro)
c.*4035A>C (n.*4035A>C)
c.*3958A>C (n.*3958A>C)
c.*4263A>C (n.*4263A>C)
c.*3994A>C (n.*3994A>C)
c.3595A>C (p.Thr1199Pro)
c.2722+495A>C
c.3946A>C (p.Thr1316Pro)
c.2925A>C
n.1020A>C
n.3230A>C
n.276A>C
n.4053A>C
c.4063A>C (p.Thr1355Pro)
c.4042A>C (p.Thr1348Pro)
c.4024A>C (p.Thr1342Pro)
c.4006A>C (p.Thr1336Pro)
c.3967A>C (p.Thr1323Pro)
c.3928A>C (p.Thr1310Pro)
c.3652A>C (p.Thr1218Pro)
c.3613A>C (p.Thr1205Pro)
c.4003A>C (p.Thr1335Pro)
c.3910A>C (p.Thr1304Pro)
c.3385A>C (p.Thr1129Pro)
c.3700A>C (p.Thr1234Pro)
n.8272A>C
3g.9475651A>GCA351692034SETD5n.2844A>G
c.3985A>G (p.Thr1329Ala)
n.4878A>G
n.2269A>G
n.6686A>G
n.6131A>G
c.3889A>G (p.Thr1297Ala)
c.*4035A>G (n.*4035A>G)
c.*3958A>G (n.*3958A>G)
c.*4263A>G (n.*4263A>G)
c.*3994A>G (n.*3994A>G)
c.3595A>G (p.Thr1199Ala)
c.2722+495A>G
c.3946A>G (p.Thr1316Ala)
c.2925A>G
n.1020A>G
n.3230A>G
n.276A>G
n.4053A>G
c.4063A>G (p.Thr1355Ala)
c.4042A>G (p.Thr1348Ala)
c.4024A>G (p.Thr1342Ala)
c.4006A>G (p.Thr1336Ala)
c.3967A>G (p.Thr1323Ala)
c.3928A>G (p.Thr1310Ala)
c.3652A>G (p.Thr1218Ala)
c.3613A>G (p.Thr1205Ala)
c.4003A>G (p.Thr1335Ala)
c.3910A>G (p.Thr1304Ala)
c.3385A>G (p.Thr1129Ala)
c.3700A>G (p.Thr1234Ala)
n.8272A>G
 gnomAD v4
3g.9475651A>TCA351692037SETD5n.2844A>T
c.3985A>T (p.Thr1329Ser)
n.4878A>T
n.2269A>T
n.6686A>T
n.6131A>T
c.3889A>T (p.Thr1297Ser)
c.*4035A>T (n.*4035A>T)
c.*3958A>T (n.*3958A>T)
c.*4263A>T (n.*4263A>T)
c.*3994A>T (n.*3994A>T)
c.3595A>T (p.Thr1199Ser)
c.2722+495A>T
c.3946A>T (p.Thr1316Ser)
c.2925A>T
n.1020A>T
n.3230A>T
n.276A>T
n.4053A>T
c.4063A>T (p.Thr1355Ser)
c.4042A>T (p.Thr1348Ser)
c.4024A>T (p.Thr1342Ser)
c.4006A>T (p.Thr1336Ser)
c.3967A>T (p.Thr1323Ser)
c.3928A>T (p.Thr1310Ser)
c.3652A>T (p.Thr1218Ser)
c.3613A>T (p.Thr1205Ser)
c.4003A>T (p.Thr1335Ser)
c.3910A>T (p.Thr1304Ser)
c.3385A>T (p.Thr1129Ser)
c.3700A>T (p.Thr1234Ser)
n.8272A>T
3g.9475652C>ACA351692059SETD5n.2845C>A
c.3986C>A (p.Thr1329Lys)
n.4879C>A
n.2270C>A
n.6687C>A
n.6132C>A
c.3890C>A (p.Thr1297Lys)
c.*4036C>A (n.*4036C>A)
c.*3959C>A (n.*3959C>A)
c.*4264C>A (n.*4264C>A)
c.*3995C>A (n.*3995C>A)
c.3596C>A (p.Thr1199Lys)
c.2722+496C>A
c.3947C>A (p.Thr1316Lys)
c.2926C>A
n.1021C>A
n.3231C>A
n.277C>A
n.4054C>A
c.4064C>A (p.Thr1355Lys)
c.4043C>A (p.Thr1348Lys)
c.4025C>A (p.Thr1342Lys)
c.4007C>A (p.Thr1336Lys)
c.3968C>A (p.Thr1323Lys)
c.3929C>A (p.Thr1310Lys)
c.3653C>A (p.Thr1218Lys)
c.3614C>A (p.Thr1205Lys)
c.4004C>A (p.Thr1335Lys)
c.3911C>A (p.Thr1304Lys)
c.3386C>A (p.Thr1129Lys)
c.3701C>A (p.Thr1234Lys)
n.8273C>A
3g.9475652C=CA1344742570SETD5n.2845C=
c.3986C= (p.Thr1329=)
n.4879C=
n.2270C=
n.6687C=
n.6132C=
c.3890C= (p.Thr1297=)
c.*4036C= (n.*4036C=)
c.*3959C= (n.*3959C=)
c.*4264C= (n.*4264C=)
c.*3995C= (n.*3995C=)
c.3596C= (p.Thr1199=)
c.2722+496C=
c.3947C= (p.Thr1316=)
c.2926C=
n.1021C=
n.3231C=
n.277C=
n.4054C=
c.4064C= (p.Thr1355=)
c.4043C= (p.Thr1348=)
c.4025C= (p.Thr1342=)
c.4007C= (p.Thr1336=)
c.3968C= (p.Thr1323=)
c.3929C= (p.Thr1310=)
c.3653C= (p.Thr1218=)
c.3614C= (p.Thr1205=)
c.4004C= (p.Thr1335=)
c.3911C= (p.Thr1304=)
c.3386C= (p.Thr1129=)
c.3701C= (p.Thr1234=)
n.8273C=
3g.9475652C>GCA351692063SETD5n.2845C>G
c.3986C>G (p.Thr1329Arg)
n.4879C>G
n.2270C>G
n.6687C>G
n.6132C>G
c.3890C>G (p.Thr1297Arg)
c.*4036C>G (n.*4036C>G)
c.*3959C>G (n.*3959C>G)
c.*4264C>G (n.*4264C>G)
c.*3995C>G (n.*3995C>G)
c.3596C>G (p.Thr1199Arg)
c.2722+496C>G
c.3947C>G (p.Thr1316Arg)
c.2926C>G
n.1021C>G
n.3231C>G
n.277C>G
n.4054C>G
c.4064C>G (p.Thr1355Arg)
c.4043C>G (p.Thr1348Arg)
c.4025C>G (p.Thr1342Arg)
c.4007C>G (p.Thr1336Arg)
c.3968C>G (p.Thr1323Arg)
c.3929C>G (p.Thr1310Arg)
c.3653C>G (p.Thr1218Arg)
c.3614C>G (p.Thr1205Arg)
c.4004C>G (p.Thr1335Arg)
c.3911C>G (p.Thr1304Arg)
c.3386C>G (p.Thr1129Arg)
c.3701C>G (p.Thr1234Arg)
n.8273C>G
3g.9475652C>TCA2239822SETD5n.2845C>T
c.3986C>T (p.Thr1329Met)
n.4879C>T
n.2270C>T
n.6687C>T
n.6132C>T
c.3890C>T (p.Thr1297Met)
c.*4036C>T (n.*4036C>T)
c.*3959C>T (n.*3959C>T)
c.*4264C>T (n.*4264C>T)
c.*3995C>T (n.*3995C>T)
c.3596C>T (p.Thr1199Met)
c.2722+496C>T
c.3947C>T (p.Thr1316Met)
c.2926C>T
n.1021C>T
n.3231C>T
n.277C>T
n.4054C>T
c.4064C>T (p.Thr1355Met)
c.4043C>T (p.Thr1348Met)
c.4025C>T (p.Thr1342Met)
c.4007C>T (p.Thr1336Met)
c.3968C>T (p.Thr1323Met)
c.3929C>T (p.Thr1310Met)
c.3653C>T (p.Thr1218Met)
c.3614C>T (p.Thr1205Met)
c.4004C>T (p.Thr1335Met)
c.3911C>T (p.Thr1304Met)
c.3386C>T (p.Thr1129Met)
c.3701C>T (p.Thr1234Met)
n.8273C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.9475653G>ACA2239823SETD5n.2846G>A
c.3987G>A (p.Thr1329=)
n.4880G>A
n.2271G>A
n.6688G>A
n.6133G>A
c.3891G>A (p.Thr1297=)
c.*4037G>A (n.*4037G>A)
c.*3960G>A (n.*3960G>A)
c.*4265G>A (n.*4265G>A)
c.*3996G>A (n.*3996G>A)
c.3597G>A (p.Thr1199=)
c.2722+497G>A
c.3948G>A (p.Thr1316=)
c.2927G>A
n.1022G>A
n.3232G>A
n.278G>A
n.4055G>A
c.4065G>A (p.Thr1355=)
c.4044G>A (p.Thr1348=)
c.4026G>A (p.Thr1342=)
c.4008G>A (p.Thr1336=)
c.3969G>A (p.Thr1323=)
c.3930G>A (p.Thr1310=)
c.3654G>A (p.Thr1218=)
c.3615G>A (p.Thr1205=)
c.4005G>A (p.Thr1335=)
c.3912G>A (p.Thr1304=)
c.3387G>A (p.Thr1129=)
c.3702G>A (p.Thr1234=)
n.8274G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475653G>CCA432528793SETD5n.2846G>C
c.3987G>C (p.Thr1329=)
n.4880G>C
n.2271G>C
n.6688G>C
n.6133G>C
c.3891G>C (p.Thr1297=)
c.*4037G>C (n.*4037G>C)
c.*3960G>C (n.*3960G>C)
c.*4265G>C (n.*4265G>C)
c.*3996G>C (n.*3996G>C)
c.3597G>C (p.Thr1199=)
c.2722+497G>C
c.3948G>C (p.Thr1316=)
c.2927G>C
n.1022G>C
n.3232G>C
n.278G>C
n.4055G>C
c.4065G>C (p.Thr1355=)
c.4044G>C (p.Thr1348=)
c.4026G>C (p.Thr1342=)
c.4008G>C (p.Thr1336=)
c.3969G>C (p.Thr1323=)
c.3930G>C (p.Thr1310=)
c.3654G>C (p.Thr1218=)
c.3615G>C (p.Thr1205=)
c.4005G>C (p.Thr1335=)
c.3912G>C (p.Thr1304=)
c.3387G>C (p.Thr1129=)
c.3702G>C (p.Thr1234=)
n.8274G>C
 gnomAD v4
3g.9475653G=CA1344742576SETD5n.2846G=
c.3987G= (p.Thr1329=)
n.4880G=
n.2271G=
n.6688G=
n.6133G=
c.3891G= (p.Thr1297=)
c.*4037G= (n.*4037G=)
c.*3960G= (n.*3960G=)
c.*4265G= (n.*4265G=)
c.*3996G= (n.*3996G=)
c.3597G= (p.Thr1199=)
c.2722+497G=
c.3948G= (p.Thr1316=)
c.2927G=
n.1022G=
n.3232G=
n.278G=
n.4055G=
c.4065G= (p.Thr1355=)
c.4044G= (p.Thr1348=)
c.4026G= (p.Thr1342=)
c.4008G= (p.Thr1336=)
c.3969G= (p.Thr1323=)
c.3930G= (p.Thr1310=)
c.3654G= (p.Thr1218=)
c.3615G= (p.Thr1205=)
c.4005G= (p.Thr1335=)
c.3912G= (p.Thr1304=)
c.3387G= (p.Thr1129=)
c.3702G= (p.Thr1234=)
n.8274G=
3g.9475653G>TCA432528792SETD5n.2846G>T
c.3987G>T (p.Thr1329=)
n.4880G>T
n.2271G>T
n.6688G>T
n.6133G>T
c.3891G>T (p.Thr1297=)
c.*4037G>T (n.*4037G>T)
c.*3960G>T (n.*3960G>T)
c.*4265G>T (n.*4265G>T)
c.*3996G>T (n.*3996G>T)
c.3597G>T (p.Thr1199=)
c.2722+497G>T
c.3948G>T (p.Thr1316=)
c.2927G>T
n.1022G>T
n.3232G>T
n.278G>T
n.4055G>T
c.4065G>T (p.Thr1355=)
c.4044G>T (p.Thr1348=)
c.4026G>T (p.Thr1342=)
c.4008G>T (p.Thr1336=)
c.3969G>T (p.Thr1323=)
c.3930G>T (p.Thr1310=)
c.3654G>T (p.Thr1218=)
c.3615G>T (p.Thr1205=)
c.4005G>T (p.Thr1335=)
c.3912G>T (p.Thr1304=)
c.3387G>T (p.Thr1129=)
c.3702G>T (p.Thr1234=)
n.8274G>T
 gnomAD v4
3g.9475654T>ACA351692076SETD5n.2847T>A
c.3988T>A (p.Ser1330Thr)
n.4881T>A
n.2272T>A
n.6689T>A
n.6134T>A
c.3892T>A (p.Ser1298Thr)
c.*4038T>A (n.*4038T>A)
c.*3961T>A (n.*3961T>A)
c.*4266T>A (n.*4266T>A)
c.*3997T>A (n.*3997T>A)
c.3598T>A (p.Ser1200Thr)
c.2722+498T>A
c.3949T>A (p.Ser1317Thr)
c.2928T>A
n.1023T>A
n.3233T>A
n.279T>A
n.4056T>A
c.4066T>A (p.Ser1356Thr)
c.4045T>A (p.Ser1349Thr)
c.4027T>A (p.Ser1343Thr)
c.4009T>A (p.Ser1337Thr)
c.3970T>A (p.Ser1324Thr)
c.3931T>A (p.Ser1311Thr)
c.3655T>A (p.Ser1219Thr)
c.3616T>A (p.Ser1206Thr)
c.4006T>A (p.Ser1336Thr)
c.3913T>A (p.Ser1305Thr)
c.3388T>A (p.Ser1130Thr)
c.3703T>A (p.Ser1235Thr)
n.8275T>A
3g.9475654T>CCA351692071SETD5n.2847T>C
c.3988T>C (p.Ser1330Pro)
n.4881T>C
n.2272T>C
n.6689T>C
n.6134T>C
c.3892T>C (p.Ser1298Pro)
c.*4038T>C (n.*4038T>C)
c.*3961T>C (n.*3961T>C)
c.*4266T>C (n.*4266T>C)
c.*3997T>C (n.*3997T>C)
c.3598T>C (p.Ser1200Pro)
c.2722+498T>C
c.3949T>C (p.Ser1317Pro)
c.2928T>C
n.1023T>C
n.3233T>C
n.279T>C
n.4056T>C
c.4066T>C (p.Ser1356Pro)
c.4045T>C (p.Ser1349Pro)
c.4027T>C (p.Ser1343Pro)
c.4009T>C (p.Ser1337Pro)
c.3970T>C (p.Ser1324Pro)
c.3931T>C (p.Ser1311Pro)
c.3655T>C (p.Ser1219Pro)
c.3616T>C (p.Ser1206Pro)
c.4006T>C (p.Ser1336Pro)
c.3913T>C (p.Ser1305Pro)
c.3388T>C (p.Ser1130Pro)
c.3703T>C (p.Ser1235Pro)
n.8275T>C
3g.9475654T>GCA351692081SETD5n.2847T>G
c.3988T>G (p.Ser1330Ala)
n.4881T>G
n.2272T>G
n.6689T>G
n.6134T>G
c.3892T>G (p.Ser1298Ala)
c.*4038T>G (n.*4038T>G)
c.*3961T>G (n.*3961T>G)
c.*4266T>G (n.*4266T>G)
c.*3997T>G (n.*3997T>G)
c.3598T>G (p.Ser1200Ala)
c.2722+498T>G
c.3949T>G (p.Ser1317Ala)
c.2928T>G
n.1023T>G
n.3233T>G
n.279T>G
n.4056T>G
c.4066T>G (p.Ser1356Ala)
c.4045T>G (p.Ser1349Ala)
c.4027T>G (p.Ser1343Ala)
c.4009T>G (p.Ser1337Ala)
c.3970T>G (p.Ser1324Ala)
c.3931T>G (p.Ser1311Ala)
c.3655T>G (p.Ser1219Ala)
c.3616T>G (p.Ser1206Ala)
c.4006T>G (p.Ser1336Ala)
c.3913T>G (p.Ser1305Ala)
c.3388T>G (p.Ser1130Ala)
c.3703T>G (p.Ser1235Ala)
n.8275T>G
3g.9475655C>ACA351692104SETD5n.2848C>A
c.3989C>A (p.Ser1330Tyr)
n.4882C>A
n.2273C>A
n.6690C>A
n.6135C>A
c.3893C>A (p.Ser1298Tyr)
c.*4039C>A (n.*4039C>A)
c.*3962C>A (n.*3962C>A)
c.*4267C>A (n.*4267C>A)
c.*3998C>A (n.*3998C>A)
c.3599C>A (p.Ser1200Tyr)
c.2722+499C>A
c.3950C>A (p.Ser1317Tyr)
c.2929C>A
n.1024C>A
n.3234C>A
n.280C>A
n.4057C>A
c.4067C>A (p.Ser1356Tyr)
c.4046C>A (p.Ser1349Tyr)
c.4028C>A (p.Ser1343Tyr)
c.4010C>A (p.Ser1337Tyr)
c.3971C>A (p.Ser1324Tyr)
c.3932C>A (p.Ser1311Tyr)
c.3656C>A (p.Ser1219Tyr)
c.3617C>A (p.Ser1206Tyr)
c.4007C>A (p.Ser1336Tyr)
c.3914C>A (p.Ser1305Tyr)
c.3389C>A (p.Ser1130Tyr)
c.3704C>A (p.Ser1235Tyr)
n.8276C>A
 ClinVar dbSNP
3g.9475655C=CA1344742580SETD5n.2848C=
c.3989C= (p.Ser1330=)
n.4882C=
n.2273C=
n.6690C=
n.6135C=
c.3893C= (p.Ser1298=)
c.*4039C= (n.*4039C=)
c.*3962C= (n.*3962C=)
c.*4267C= (n.*4267C=)
c.*3998C= (n.*3998C=)
c.3599C= (p.Ser1200=)
c.2722+499C=
c.3950C= (p.Ser1317=)
c.2929C=
n.1024C=
n.3234C=
n.280C=
n.4057C=
c.4067C= (p.Ser1356=)
c.4046C= (p.Ser1349=)
c.4028C= (p.Ser1343=)
c.4010C= (p.Ser1337=)
c.3971C= (p.Ser1324=)
c.3932C= (p.Ser1311=)
c.3656C= (p.Ser1219=)
c.3617C= (p.Ser1206=)
c.4007C= (p.Ser1336=)
c.3914C= (p.Ser1305=)
c.3389C= (p.Ser1130=)
c.3704C= (p.Ser1235=)
n.8276C=
3g.9475655C>GCA351692108SETD5n.2848C>G
c.3989C>G (p.Ser1330Cys)
n.4882C>G
n.2273C>G
n.6690C>G
n.6135C>G
c.3893C>G (p.Ser1298Cys)
c.*4039C>G (n.*4039C>G)
c.*3962C>G (n.*3962C>G)
c.*4267C>G (n.*4267C>G)
c.*3998C>G (n.*3998C>G)
c.3599C>G (p.Ser1200Cys)
c.2722+499C>G
c.3950C>G (p.Ser1317Cys)
c.2929C>G
n.1024C>G
n.3234C>G
n.280C>G
n.4057C>G
c.4067C>G (p.Ser1356Cys)
c.4046C>G (p.Ser1349Cys)
c.4028C>G (p.Ser1343Cys)
c.4010C>G (p.Ser1337Cys)
c.3971C>G (p.Ser1324Cys)
c.3932C>G (p.Ser1311Cys)
c.3656C>G (p.Ser1219Cys)
c.3617C>G (p.Ser1206Cys)
c.4007C>G (p.Ser1336Cys)
c.3914C>G (p.Ser1305Cys)
c.3389C>G (p.Ser1130Cys)
c.3704C>G (p.Ser1235Cys)
n.8276C>G
3g.9475655C>TCA351692106SETD5n.2848C>T
c.3989C>T (p.Ser1330Phe)
n.4882C>T
n.2273C>T
n.6690C>T
n.6135C>T
c.3893C>T (p.Ser1298Phe)
c.*4039C>T (n.*4039C>T)
c.*3962C>T (n.*3962C>T)
c.*4267C>T (n.*4267C>T)
c.*3998C>T (n.*3998C>T)
c.3599C>T (p.Ser1200Phe)
c.2722+499C>T
c.3950C>T (p.Ser1317Phe)
c.2929C>T
n.1024C>T
n.3234C>T
n.280C>T
n.4057C>T
c.4067C>T (p.Ser1356Phe)
c.4046C>T (p.Ser1349Phe)
c.4028C>T (p.Ser1343Phe)
c.4010C>T (p.Ser1337Phe)
c.3971C>T (p.Ser1324Phe)
c.3932C>T (p.Ser1311Phe)
c.3656C>T (p.Ser1219Phe)
c.3617C>T (p.Ser1206Phe)
c.4007C>T (p.Ser1336Phe)
c.3914C>T (p.Ser1305Phe)
c.3389C>T (p.Ser1130Phe)
c.3704C>T (p.Ser1235Phe)
n.8276C>T
3g.9475656C>ACA2239824SETD5n.2849C>A
c.3990C>A (p.Ser1330=)
n.4883C>A
n.2274C>A
n.6691C>A
n.6136C>A
c.3894C>A (p.Ser1298=)
c.*4040C>A (n.*4040C>A)
c.*3963C>A (n.*3963C>A)
c.*4268C>A (n.*4268C>A)
c.*3999C>A (n.*3999C>A)
c.3600C>A (p.Ser1200=)
c.2722+500C>A
c.3951C>A (p.Ser1317=)
c.2930C>A
n.1025C>A
n.3235C>A
n.281C>A
n.4058C>A
c.4068C>A (p.Ser1356=)
c.4047C>A (p.Ser1349=)
c.4029C>A (p.Ser1343=)
c.4011C>A (p.Ser1337=)
c.3972C>A (p.Ser1324=)
c.3933C>A (p.Ser1311=)
c.3657C>A (p.Ser1219=)
c.3618C>A (p.Ser1206=)
c.4008C>A (p.Ser1336=)
c.3915C>A (p.Ser1305=)
c.3390C>A (p.Ser1130=)
c.3705C>A (p.Ser1235=)
n.8277C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475656C=CA1344742584SETD5n.2849C=
c.3990C= (p.Ser1330=)
n.4883C=
n.2274C=
n.6691C=
n.6136C=
c.3894C= (p.Ser1298=)
c.*4040C= (n.*4040C=)
c.*3963C= (n.*3963C=)
c.*4268C= (n.*4268C=)
c.*3999C= (n.*3999C=)
c.3600C= (p.Ser1200=)
c.2722+500C=
c.3951C= (p.Ser1317=)
c.2930C=
n.1025C=
n.3235C=
n.281C=
n.4058C=
c.4068C= (p.Ser1356=)
c.4047C= (p.Ser1349=)
c.4029C= (p.Ser1343=)
c.4011C= (p.Ser1337=)
c.3972C= (p.Ser1324=)
c.3933C= (p.Ser1311=)
c.3657C= (p.Ser1219=)
c.3618C= (p.Ser1206=)
c.4008C= (p.Ser1336=)
c.3915C= (p.Ser1305=)
c.3390C= (p.Ser1130=)
c.3705C= (p.Ser1235=)
n.8277C=
3g.9475656C>GCA432528797SETD5n.2849C>G
c.3990C>G (p.Ser1330=)
n.4883C>G
n.2274C>G
n.6691C>G
n.6136C>G
c.3894C>G (p.Ser1298=)
c.*4040C>G (n.*4040C>G)
c.*3963C>G (n.*3963C>G)
c.*4268C>G (n.*4268C>G)
c.*3999C>G (n.*3999C>G)
c.3600C>G (p.Ser1200=)
c.2722+500C>G
c.3951C>G (p.Ser1317=)
c.2930C>G
n.1025C>G
n.3235C>G
n.281C>G
n.4058C>G
c.4068C>G (p.Ser1356=)
c.4047C>G (p.Ser1349=)
c.4029C>G (p.Ser1343=)
c.4011C>G (p.Ser1337=)
c.3972C>G (p.Ser1324=)
c.3933C>G (p.Ser1311=)
c.3657C>G (p.Ser1219=)
c.3618C>G (p.Ser1206=)
c.4008C>G (p.Ser1336=)
c.3915C>G (p.Ser1305=)
c.3390C>G (p.Ser1130=)
c.3705C>G (p.Ser1235=)
n.8277C>G
3g.9475656C>TCA432528798SETD5n.2849C>T
c.3990C>T (p.Ser1330=)
n.4883C>T
n.2274C>T
n.6691C>T
n.6136C>T
c.3894C>T (p.Ser1298=)
c.*4040C>T (n.*4040C>T)
c.*3963C>T (n.*3963C>T)
c.*4268C>T (n.*4268C>T)
c.*3999C>T (n.*3999C>T)
c.3600C>T (p.Ser1200=)
c.2722+500C>T
c.3951C>T (p.Ser1317=)
c.2930C>T
n.1025C>T
n.3235C>T
n.281C>T
n.4058C>T
c.4068C>T (p.Ser1356=)
c.4047C>T (p.Ser1349=)
c.4029C>T (p.Ser1343=)
c.4011C>T (p.Ser1337=)
c.3972C>T (p.Ser1324=)
c.3933C>T (p.Ser1311=)
c.3657C>T (p.Ser1219=)
c.3618C>T (p.Ser1206=)
c.4008C>T (p.Ser1336=)
c.3915C>T (p.Ser1305=)
c.3390C>T (p.Ser1130=)
c.3705C>T (p.Ser1235=)
n.8277C>T
 dbSNP gnomAD v2 gnomAD v4
3g.9475657T>ACA351692120SETD5n.2850T>A
c.3991T>A (p.Tyr1331Asn)
n.4884T>A
n.2275T>A
n.6692T>A
n.6137T>A
c.3895T>A (p.Tyr1299Asn)
c.*4041T>A (n.*4041T>A)
c.*3964T>A (n.*3964T>A)
c.*4269T>A (n.*4269T>A)
c.*4000T>A (n.*4000T>A)
c.3601T>A (p.Tyr1201Asn)
c.2722+501T>A
c.3952T>A (p.Tyr1318Asn)
c.2931T>A
n.1026T>A
n.3236T>A
n.282T>A
n.4059T>A
c.4069T>A (p.Tyr1357Asn)
c.4048T>A (p.Tyr1350Asn)
c.4030T>A (p.Tyr1344Asn)
c.4012T>A (p.Tyr1338Asn)
c.3973T>A (p.Tyr1325Asn)
c.3934T>A (p.Tyr1312Asn)
c.3658T>A (p.Tyr1220Asn)
c.3619T>A (p.Tyr1207Asn)
c.4009T>A (p.Tyr1337Asn)
c.3916T>A (p.Tyr1306Asn)
c.3391T>A (p.Tyr1131Asn)
c.3706T>A (p.Tyr1236Asn)
n.8278T>A
3g.9475657T>CCA351692114SETD5n.2850T>C
c.3991T>C (p.Tyr1331His)
n.4884T>C
n.2275T>C
n.6692T>C
n.6137T>C
c.3895T>C (p.Tyr1299His)
c.*4041T>C (n.*4041T>C)
c.*3964T>C (n.*3964T>C)
c.*4269T>C (n.*4269T>C)
c.*4000T>C (n.*4000T>C)
c.3601T>C (p.Tyr1201His)
c.2722+501T>C
c.3952T>C (p.Tyr1318His)
c.2931T>C
n.1026T>C
n.3236T>C
n.282T>C
n.4059T>C
c.4069T>C (p.Tyr1357His)
c.4048T>C (p.Tyr1350His)
c.4030T>C (p.Tyr1344His)
c.4012T>C (p.Tyr1338His)
c.3973T>C (p.Tyr1325His)
c.3934T>C (p.Tyr1312His)
c.3658T>C (p.Tyr1220His)
c.3619T>C (p.Tyr1207His)
c.4009T>C (p.Tyr1337His)
c.3916T>C (p.Tyr1306His)
c.3391T>C (p.Tyr1131His)
c.3706T>C (p.Tyr1236His)
n.8278T>C
3g.9475657T>GCA351692117SETD5n.2850T>G
c.3991T>G (p.Tyr1331Asp)
n.4884T>G
n.2275T>G
n.6692T>G
n.6137T>G
c.3895T>G (p.Tyr1299Asp)
c.*4041T>G (n.*4041T>G)
c.*3964T>G (n.*3964T>G)
c.*4269T>G (n.*4269T>G)
c.*4000T>G (n.*4000T>G)
c.3601T>G (p.Tyr1201Asp)
c.2722+501T>G
c.3952T>G (p.Tyr1318Asp)
c.2931T>G
n.1026T>G
n.3236T>G
n.282T>G
n.4059T>G
c.4069T>G (p.Tyr1357Asp)
c.4048T>G (p.Tyr1350Asp)
c.4030T>G (p.Tyr1344Asp)
c.4012T>G (p.Tyr1338Asp)
c.3973T>G (p.Tyr1325Asp)
c.3934T>G (p.Tyr1312Asp)
c.3658T>G (p.Tyr1220Asp)
c.3619T>G (p.Tyr1207Asp)
c.4009T>G (p.Tyr1337Asp)
c.3916T>G (p.Tyr1306Asp)
c.3391T>G (p.Tyr1131Asp)
c.3706T>G (p.Tyr1236Asp)
n.8278T>G
3g.9475658A=CA1344742588SETD5n.2851A=
c.3992A= (p.Tyr1331=)
n.4885A=
n.2276A=
n.6693A=
n.6138A=
c.3896A= (p.Tyr1299=)
c.*4042A= (n.*4042A=)
c.*3965A= (n.*3965A=)
c.*4270A= (n.*4270A=)
c.*4001A= (n.*4001A=)
c.3602A= (p.Tyr1201=)
c.2722+502A=
c.3953A= (p.Tyr1318=)
c.2932A=
n.1027A=
n.3237A=
n.283A=
n.4060A=
c.4070A= (p.Tyr1357=)
c.4049A= (p.Tyr1350=)
c.4031A= (p.Tyr1344=)
c.4013A= (p.Tyr1338=)
c.3974A= (p.Tyr1325=)
c.3935A= (p.Tyr1312=)
c.3659A= (p.Tyr1220=)
c.3620A= (p.Tyr1207=)
c.4010A= (p.Tyr1337=)
c.3917A= (p.Tyr1306=)
c.3392A= (p.Tyr1131=)
c.3707A= (p.Tyr1236=)
n.8279A=
3g.9475658A>CCA351692128SETD5n.2851A>C
c.3992A>C (p.Tyr1331Ser)
n.4885A>C
n.2276A>C
n.6693A>C
n.6138A>C
c.3896A>C (p.Tyr1299Ser)
c.*4042A>C (n.*4042A>C)
c.*3965A>C (n.*3965A>C)
c.*4270A>C (n.*4270A>C)
c.*4001A>C (n.*4001A>C)
c.3602A>C (p.Tyr1201Ser)
c.2722+502A>C
c.3953A>C (p.Tyr1318Ser)
c.2932A>C
n.1027A>C
n.3237A>C
n.283A>C
n.4060A>C
c.4070A>C (p.Tyr1357Ser)
c.4049A>C (p.Tyr1350Ser)
c.4031A>C (p.Tyr1344Ser)
c.4013A>C (p.Tyr1338Ser)
c.3974A>C (p.Tyr1325Ser)
c.3935A>C (p.Tyr1312Ser)
c.3659A>C (p.Tyr1220Ser)
c.3620A>C (p.Tyr1207Ser)
c.4010A>C (p.Tyr1337Ser)
c.3917A>C (p.Tyr1306Ser)
c.3392A>C (p.Tyr1131Ser)
c.3707A>C (p.Tyr1236Ser)
n.8279A>C
3g.9475658A>GCA351692132SETD5n.2851A>G
c.3992A>G (p.Tyr1331Cys)
n.4885A>G
n.2276A>G
n.6693A>G
n.6138A>G
c.3896A>G (p.Tyr1299Cys)
c.*4042A>G (n.*4042A>G)
c.*3965A>G (n.*3965A>G)
c.*4270A>G (n.*4270A>G)
c.*4001A>G (n.*4001A>G)
c.3602A>G (p.Tyr1201Cys)
c.2722+502A>G
c.3953A>G (p.Tyr1318Cys)
c.2932A>G
n.1027A>G
n.3237A>G
n.283A>G
n.4060A>G
c.4070A>G (p.Tyr1357Cys)
c.4049A>G (p.Tyr1350Cys)
c.4031A>G (p.Tyr1344Cys)
c.4013A>G (p.Tyr1338Cys)
c.3974A>G (p.Tyr1325Cys)
c.3935A>G (p.Tyr1312Cys)
c.3659A>G (p.Tyr1220Cys)
c.3620A>G (p.Tyr1207Cys)
c.4010A>G (p.Tyr1337Cys)
c.3917A>G (p.Tyr1306Cys)
c.3392A>G (p.Tyr1131Cys)
c.3707A>G (p.Tyr1236Cys)
n.8279A>G
 gnomAD v4
3g.9475658A>TCA69951959SETD5n.2851A>T
c.3992A>T (p.Tyr1331Phe)
n.4885A>T
n.2276A>T
n.6693A>T
n.6138A>T
c.3896A>T (p.Tyr1299Phe)
c.*4042A>T (n.*4042A>T)
c.*3965A>T (n.*3965A>T)
c.*4270A>T (n.*4270A>T)
c.*4001A>T (n.*4001A>T)
c.3602A>T (p.Tyr1201Phe)
c.2722+502A>T
c.3953A>T (p.Tyr1318Phe)
c.2932A>T
n.1027A>T
n.3237A>T
n.283A>T
n.4060A>T
c.4070A>T (p.Tyr1357Phe)
c.4049A>T (p.Tyr1350Phe)
c.4031A>T (p.Tyr1344Phe)
c.4013A>T (p.Tyr1338Phe)
c.3974A>T (p.Tyr1325Phe)
c.3935A>T (p.Tyr1312Phe)
c.3659A>T (p.Tyr1220Phe)
c.3620A>T (p.Tyr1207Phe)
c.4010A>T (p.Tyr1337Phe)
c.3917A>T (p.Tyr1306Phe)
c.3392A>T (p.Tyr1131Phe)
c.3707A>T (p.Tyr1236Phe)
n.8279A>T
 dbSNP
3g.9475659T>ACA351692154SETD5n.2852T>A
c.3993T>A (p.Tyr1331Ter)
n.4886T>A
n.2277T>A
n.6694T>A
n.6139T>A
c.3897T>A (p.Tyr1299Ter)
c.*4043T>A (n.*4043T>A)
c.*3966T>A (n.*3966T>A)
c.*4271T>A (n.*4271T>A)
c.*4002T>A (n.*4002T>A)
c.3603T>A (p.Tyr1201Ter)
c.2722+503T>A
c.3954T>A (p.Tyr1318Ter)
c.2933T>A
n.1028T>A
n.3238T>A
n.284T>A
n.4061T>A
c.4071T>A (p.Tyr1357Ter)
c.4050T>A (p.Tyr1350Ter)
c.4032T>A (p.Tyr1344Ter)
c.4014T>A (p.Tyr1338Ter)
c.3975T>A (p.Tyr1325Ter)
c.3936T>A (p.Tyr1312Ter)
c.3660T>A (p.Tyr1220Ter)
c.3621T>A (p.Tyr1207Ter)
c.4011T>A (p.Tyr1337Ter)
c.3918T>A (p.Tyr1306Ter)
c.3393T>A (p.Tyr1131Ter)
c.3708T>A (p.Tyr1236Ter)
n.8280T>A
 COSMIC COSMIC
3g.9475659T>CCA432528805SETD5n.2852T>C
c.3993T>C (p.Tyr1331=)
n.4886T>C
n.2277T>C
n.6694T>C
n.6139T>C
c.3897T>C (p.Tyr1299=)
c.*4043T>C (n.*4043T>C)
c.*3966T>C (n.*3966T>C)
c.*4271T>C (n.*4271T>C)
c.*4002T>C (n.*4002T>C)
c.3603T>C (p.Tyr1201=)
c.2722+503T>C
c.3954T>C (p.Tyr1318=)
c.2933T>C
n.1028T>C
n.3238T>C
n.284T>C
n.4061T>C
c.4071T>C (p.Tyr1357=)
c.4050T>C (p.Tyr1350=)
c.4032T>C (p.Tyr1344=)
c.4014T>C (p.Tyr1338=)
c.3975T>C (p.Tyr1325=)
c.3936T>C (p.Tyr1312=)
c.3660T>C (p.Tyr1220=)
c.3621T>C (p.Tyr1207=)
c.4011T>C (p.Tyr1337=)
c.3918T>C (p.Tyr1306=)
c.3393T>C (p.Tyr1131=)
c.3708T>C (p.Tyr1236=)
n.8280T>C
3g.9475659T>GCA351692159SETD5n.2852T>G
c.3993T>G (p.Tyr1331Ter)
n.4886T>G
n.2277T>G
n.6694T>G
n.6139T>G
c.3897T>G (p.Tyr1299Ter)
c.*4043T>G (n.*4043T>G)
c.*3966T>G (n.*3966T>G)
c.*4271T>G (n.*4271T>G)
c.*4002T>G (n.*4002T>G)
c.3603T>G (p.Tyr1201Ter)
c.2722+503T>G
c.3954T>G (p.Tyr1318Ter)
c.2933T>G
n.1028T>G
n.3238T>G
n.284T>G
n.4061T>G
c.4071T>G (p.Tyr1357Ter)
c.4050T>G (p.Tyr1350Ter)
c.4032T>G (p.Tyr1344Ter)
c.4014T>G (p.Tyr1338Ter)
c.3975T>G (p.Tyr1325Ter)
c.3936T>G (p.Tyr1312Ter)
c.3660T>G (p.Tyr1220Ter)
c.3621T>G (p.Tyr1207Ter)
c.4011T>G (p.Tyr1337Ter)
c.3918T>G (p.Tyr1306Ter)
c.3393T>G (p.Tyr1131Ter)
c.3708T>G (p.Tyr1236Ter)
n.8280T>G
3g.9475660T>ACA351692166SETD5n.2853T>A
c.3994T>A (p.Ser1332Thr)
n.4887T>A
n.2278T>A
n.6695T>A
n.6140T>A
c.3898T>A (p.Ser1300Thr)
c.*4044T>A (n.*4044T>A)
c.*3967T>A (n.*3967T>A)
c.*4272T>A (n.*4272T>A)
c.*4003T>A (n.*4003T>A)
c.3604T>A (p.Ser1202Thr)
c.2722+504T>A
c.3955T>A (p.Ser1319Thr)
c.2934T>A
n.1029T>A
n.3239T>A
n.4062T>A
c.4072T>A (p.Ser1358Thr)
c.4051T>A (p.Ser1351Thr)
c.4033T>A (p.Ser1345Thr)
c.4015T>A (p.Ser1339Thr)
c.3976T>A (p.Ser1326Thr)
c.3937T>A (p.Ser1313Thr)
c.3661T>A (p.Ser1221Thr)
c.3622T>A (p.Ser1208Thr)
c.4012T>A (p.Ser1338Thr)
c.3919T>A (p.Ser1307Thr)
c.3394T>A (p.Ser1132Thr)
c.3709T>A (p.Ser1237Thr)
n.8281T>A
3g.9475660T>CCA351692170SETD5n.2853T>C
c.3994T>C (p.Ser1332Pro)
n.4887T>C
n.2278T>C
n.6695T>C
n.6140T>C
c.3898T>C (p.Ser1300Pro)
c.*4044T>C (n.*4044T>C)
c.*3967T>C (n.*3967T>C)
c.*4272T>C (n.*4272T>C)
c.*4003T>C (n.*4003T>C)
c.3604T>C (p.Ser1202Pro)
c.2722+504T>C
c.3955T>C (p.Ser1319Pro)
c.2934T>C
n.1029T>C
n.3239T>C
n.4062T>C
c.4072T>C (p.Ser1358Pro)
c.4051T>C (p.Ser1351Pro)
c.4033T>C (p.Ser1345Pro)
c.4015T>C (p.Ser1339Pro)
c.3976T>C (p.Ser1326Pro)
c.3937T>C (p.Ser1313Pro)
c.3661T>C (p.Ser1221Pro)
c.3622T>C (p.Ser1208Pro)
c.4012T>C (p.Ser1338Pro)
c.3919T>C (p.Ser1307Pro)
c.3394T>C (p.Ser1132Pro)
c.3709T>C (p.Ser1237Pro)
n.8281T>C
 dbSNP gnomAD v2
3g.9475660T>GCA351692174SETD5n.2853T>G
c.3994T>G (p.Ser1332Ala)
n.4887T>G
n.2278T>G
n.6695T>G
n.6140T>G
c.3898T>G (p.Ser1300Ala)
c.*4044T>G (n.*4044T>G)
c.*3967T>G (n.*3967T>G)
c.*4272T>G (n.*4272T>G)
c.*4003T>G (n.*4003T>G)
c.3604T>G (p.Ser1202Ala)
c.2722+504T>G
c.3955T>G (p.Ser1319Ala)
c.2934T>G
n.1029T>G
n.3239T>G
n.4062T>G
c.4072T>G (p.Ser1358Ala)
c.4051T>G (p.Ser1351Ala)
c.4033T>G (p.Ser1345Ala)
c.4015T>G (p.Ser1339Ala)
c.3976T>G (p.Ser1326Ala)
c.3937T>G (p.Ser1313Ala)
c.3661T>G (p.Ser1221Ala)
c.3622T>G (p.Ser1208Ala)
c.4012T>G (p.Ser1338Ala)
c.3919T>G (p.Ser1307Ala)
c.3394T>G (p.Ser1132Ala)
c.3709T>G (p.Ser1237Ala)
n.8281T>G
3g.9475660T=CA1344742592SETD5n.2853T=
c.3994T= (p.Ser1332=)
n.4887T=
n.2278T=
n.6695T=
n.6140T=
c.3898T= (p.Ser1300=)
c.*4044T= (n.*4044T=)
c.*3967T= (n.*3967T=)
c.*4272T= (n.*4272T=)
c.*4003T= (n.*4003T=)
c.3604T= (p.Ser1202=)
c.2722+504T=
c.3955T= (p.Ser1319=)
c.2934T=
n.1029T=
n.3239T=
n.4062T=
c.4072T= (p.Ser1358=)
c.4051T= (p.Ser1351=)
c.4033T= (p.Ser1345=)
c.4015T= (p.Ser1339=)
c.3976T= (p.Ser1326=)
c.3937T= (p.Ser1313=)
c.3661T= (p.Ser1221=)
c.3622T= (p.Ser1208=)
c.4012T= (p.Ser1338=)
c.3919T= (p.Ser1307=)
c.3394T= (p.Ser1132=)
c.3709T= (p.Ser1237=)
n.8281T=
3g.9475661C>ACA351692181SETD5n.2854C>A
c.3995C>A (p.Ser1332Tyr)
n.4888C>A
n.2279C>A
n.6696C>A
n.6141C>A
c.3899C>A (p.Ser1300Tyr)
c.*4045C>A (n.*4045C>A)
c.*3968C>A (n.*3968C>A)
c.*4273C>A (n.*4273C>A)
c.*4004C>A (n.*4004C>A)
c.3605C>A (p.Ser1202Tyr)
c.2722+505C>A
c.3956C>A (p.Ser1319Tyr)
c.2935C>A
n.1030C>A
n.3240C>A
n.4063C>A
c.4073C>A (p.Ser1358Tyr)
c.4052C>A (p.Ser1351Tyr)
c.4034C>A (p.Ser1345Tyr)
c.4016C>A (p.Ser1339Tyr)
c.3977C>A (p.Ser1326Tyr)
c.3938C>A (p.Ser1313Tyr)
c.3662C>A (p.Ser1221Tyr)
c.3623C>A (p.Ser1208Tyr)
c.4013C>A (p.Ser1338Tyr)
c.3920C>A (p.Ser1307Tyr)
c.3395C>A (p.Ser1132Tyr)
c.3710C>A (p.Ser1237Tyr)
n.8282C>A
3g.9475661C=CA1344742596SETD5n.2854C=
c.3995C= (p.Ser1332=)
n.4888C=
n.2279C=
n.6696C=
n.6141C=
c.3899C= (p.Ser1300=)
c.*4045C= (n.*4045C=)
c.*3968C= (n.*3968C=)
c.*4273C= (n.*4273C=)
c.*4004C= (n.*4004C=)
c.3605C= (p.Ser1202=)
c.2722+505C=
c.3956C= (p.Ser1319=)
c.2935C=
n.1030C=
n.3240C=
n.4063C=
c.4073C= (p.Ser1358=)
c.4052C= (p.Ser1351=)
c.4034C= (p.Ser1345=)
c.4016C= (p.Ser1339=)
c.3977C= (p.Ser1326=)
c.3938C= (p.Ser1313=)
c.3662C= (p.Ser1221=)
c.3623C= (p.Ser1208=)
c.4013C= (p.Ser1338=)
c.3920C= (p.Ser1307=)
c.3395C= (p.Ser1132=)
c.3710C= (p.Ser1237=)
n.8282C=
3g.9475661C>GCA351692188SETD5n.2854C>G
c.3995C>G (p.Ser1332Cys)
n.4888C>G
n.2279C>G
n.6696C>G
n.6141C>G
c.3899C>G (p.Ser1300Cys)
c.*4045C>G (n.*4045C>G)
c.*3968C>G (n.*3968C>G)
c.*4273C>G (n.*4273C>G)
c.*4004C>G (n.*4004C>G)
c.3605C>G (p.Ser1202Cys)
c.2722+505C>G
c.3956C>G (p.Ser1319Cys)
c.2935C>G
n.1030C>G
n.3240C>G
n.4063C>G
c.4073C>G (p.Ser1358Cys)
c.4052C>G (p.Ser1351Cys)
c.4034C>G (p.Ser1345Cys)
c.4016C>G (p.Ser1339Cys)
c.3977C>G (p.Ser1326Cys)
c.3938C>G (p.Ser1313Cys)
c.3662C>G (p.Ser1221Cys)
c.3623C>G (p.Ser1208Cys)
c.4013C>G (p.Ser1338Cys)
c.3920C>G (p.Ser1307Cys)
c.3395C>G (p.Ser1132Cys)
c.3710C>G (p.Ser1237Cys)
n.8282C>G
3g.9475661C>TCA351692195SETD5n.2854C>T
c.3995C>T (p.Ser1332Phe)
n.4888C>T
n.2279C>T
n.6696C>T
n.6141C>T
c.3899C>T (p.Ser1300Phe)
c.*4045C>T (n.*4045C>T)
c.*3968C>T (n.*3968C>T)
c.*4273C>T (n.*4273C>T)
c.*4004C>T (n.*4004C>T)
c.3605C>T (p.Ser1202Phe)
c.2722+505C>T
c.3956C>T (p.Ser1319Phe)
c.2935C>T
n.1030C>T
n.3240C>T
n.4063C>T
c.4073C>T (p.Ser1358Phe)
c.4052C>T (p.Ser1351Phe)
c.4034C>T (p.Ser1345Phe)
c.4016C>T (p.Ser1339Phe)
c.3977C>T (p.Ser1326Phe)
c.3938C>T (p.Ser1313Phe)
c.3662C>T (p.Ser1221Phe)
c.3623C>T (p.Ser1208Phe)
c.4013C>T (p.Ser1338Phe)
c.3920C>T (p.Ser1307Phe)
c.3395C>T (p.Ser1132Phe)
c.3710C>T (p.Ser1237Phe)
n.8282C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
3g.9475662C>ACA432528810SETD5n.2855C>A
c.3996C>A (p.Ser1332=)
n.4889C>A
n.2280C>A
n.6697C>A
n.6142C>A
c.3900C>A (p.Ser1300=)
c.*4046C>A (n.*4046C>A)
c.*3969C>A (n.*3969C>A)
c.*4274C>A (n.*4274C>A)
c.*4005C>A (n.*4005C>A)
c.3606C>A (p.Ser1202=)
c.2722+506C>A
c.3957C>A (p.Ser1319=)
c.2936C>A
n.1031C>A
n.3241C>A
n.4064C>A
c.4074C>A (p.Ser1358=)
c.4053C>A (p.Ser1351=)
c.4035C>A (p.Ser1345=)
c.4017C>A (p.Ser1339=)
c.3978C>A (p.Ser1326=)
c.3939C>A (p.Ser1313=)
c.3663C>A (p.Ser1221=)
c.3624C>A (p.Ser1208=)
c.4014C>A (p.Ser1338=)
c.3921C>A (p.Ser1307=)
c.3396C>A (p.Ser1132=)
c.3711C>A (p.Ser1237=)
n.8283C>A
3g.9475662C>GCA432528811SETD5n.2855C>G
c.3996C>G (p.Ser1332=)
n.4889C>G
n.2280C>G
n.6697C>G
n.6142C>G
c.3900C>G (p.Ser1300=)
c.*4046C>G (n.*4046C>G)
c.*3969C>G (n.*3969C>G)
c.*4274C>G (n.*4274C>G)
c.*4005C>G (n.*4005C>G)
c.3606C>G (p.Ser1202=)
c.2722+506C>G
c.3957C>G (p.Ser1319=)
c.2936C>G
n.1031C>G
n.3241C>G
n.4064C>G
c.4074C>G (p.Ser1358=)
c.4053C>G (p.Ser1351=)
c.4035C>G (p.Ser1345=)
c.4017C>G (p.Ser1339=)
c.3978C>G (p.Ser1326=)
c.3939C>G (p.Ser1313=)
c.3663C>G (p.Ser1221=)
c.3624C>G (p.Ser1208=)
c.4014C>G (p.Ser1338=)
c.3921C>G (p.Ser1307=)
c.3396C>G (p.Ser1132=)
c.3711C>G (p.Ser1237=)
n.8283C>G
3g.9475662C>TCA432528812SETD5n.2855C>T
c.3996C>T (p.Ser1332=)
n.4889C>T
n.2280C>T
n.6697C>T
n.6142C>T
c.3900C>T (p.Ser1300=)
c.*4046C>T (n.*4046C>T)
c.*3969C>T (n.*3969C>T)
c.*4274C>T (n.*4274C>T)
c.*4005C>T (n.*4005C>T)
c.3606C>T (p.Ser1202=)
c.2722+506C>T
c.3957C>T (p.Ser1319=)
c.2936C>T
n.1031C>T
n.3241C>T
n.4064C>T
c.4074C>T (p.Ser1358=)
c.4053C>T (p.Ser1351=)
c.4035C>T (p.Ser1345=)
c.4017C>T (p.Ser1339=)
c.3978C>T (p.Ser1326=)
c.3939C>T (p.Ser1313=)
c.3663C>T (p.Ser1221=)
c.3624C>T (p.Ser1208=)
c.4014C>T (p.Ser1338=)
c.3921C>T (p.Ser1307=)
c.3396C>T (p.Ser1132=)
c.3711C>T (p.Ser1237=)
n.8283C>T
 gnomAD v4
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

Number of alleles fetched