| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.9475616_9475618delinsCCT | CA1344742495 | SETD5 | n.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 | |
| 3 | g.9475617_9475618delinsCT | CA1344742507 | SETD5 | n.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 | |
| 3 | g.9475620_9475621del | CA1139657878 | SETD5 | n.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 |
| 3 | g.9475618del | CA251338 | SETD5 | n.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 |
| 3 | g.9475618T>A | CA351691658 | SETD5 | n.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 | |
| 3 | g.9475618T>C | CA351691676 | SETD5 | n.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 |
| 3 | g.9475618T>G | CA351691693 | SETD5 | n.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 | |
| 3 | g.9475618T= | CA1344742513 | SETD5 | n.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= | |
| 3 | g.9475619C>A | CA351691704 | SETD5 | n.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 | |
| 3 | g.9475619C>G | CA351691715 | SETD5 | n.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 | |
| 3 | g.9475619C>T | CA351691730 | SETD5 | n.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 | |
| 3 | g.9475620T>A | CA432528666 | SETD5 | n.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 | |
| 3 | g.9475620T>C | CA432528665 | SETD5 | n.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 | |
| 3 | g.9475620T>G | CA432528664 | SETD5 | n.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 | |
| 3 | g.9475621C>A | CA351691743 | SETD5 | n.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 | |
| 3 | g.9475621C= | CA1344742527 | SETD5 | n.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= | |
| 3 | g.9475621C>G | CA351691748 | SETD5 | n.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 | |
| 3 | g.9475621C>T | CA2239820 | SETD5 | n.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 |
| 3 | g.9475622A>C | CA351691761 | SETD5 | n.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 | |
| 3 | g.9475622A>G | CA351691762 | SETD5 | n.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 | |
| 3 | g.9475622A>T | CA351691767 | SETD5 | n.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 | |
| 3 | g.9475623C>A | CA351691768 | SETD5 | n.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 | |
| 3 | g.9475623C= | CA1344742531 | SETD5 | n.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= | |
| 3 | g.9475623C>G | CA351691770 | SETD5 | n.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 |
| 3 | g.9475623C>T | CA69951944 | SETD5 | n.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 |
| 3 | g.9475624G>A | CA2239821 | SETD5 | n.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 |
| 3 | g.9475624G>C | CA351691774 | SETD5 | n.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 |
| 3 | g.9475624G= | CA1344742536 | SETD5 | n.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= | |
| 3 | g.9475624G>T | CA351691776 | SETD5 | n.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 |
| 3 | g.9475625G>A | CA351691788 | SETD5 | n.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 |
| 3 | g.9475625G>C | CA351691789 | SETD5 | n.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 | |
| 3 | g.9475625G= | CA1344742541 | SETD5 | n.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= | |
| 3 | g.9475625G>T | CA351691790 | SETD5 | n.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 | |
| 3 | g.9475626T>A | CA432528690 | SETD5 | n.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 | |
| 3 | g.9475626T>C | CA432528688 | SETD5 | n.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 | |
| 3 | g.9475626T>G | CA432528689 | SETD5 | n.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 | |
| 3 | g.9475627T>A | CA351691801 | SETD5 | n.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 | |
| 3 | g.9475627T>C | CA351691798 | SETD5 | n.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 | |
| 3 | g.9475627T>G | CA351691795 | SETD5 | n.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 | |
| 3 | g.9475628C>A | CA69951948 | SETD5 | n.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 |
| 3 | g.9475628C= | CA1344742544 | SETD5 | n.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= | |
| 3 | g.9475628C>G | CA351691812 | SETD5 | n.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 |
| 3 | g.9475628C>T | CA351691820 | SETD5 | n.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 |
| 3 | g.9475629T>A | CA432528692 | SETD5 | n.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 | |
| 3 | g.9475629T>C | CA432528694 | SETD5 | n.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 | |
| 3 | g.9475629T>G | CA432528695 | SETD5 | n.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 | |
| 3 | g.9475630T>A | CA351691825 | SETD5 | n.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 |
| 3 | g.9475630T>C | CA351691826 | SETD5 | n.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 | |
| 3 | g.9475630T>G | CA351691827 | SETD5 | n.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 | |
| 3 | g.9475631C>A | CA351691829 | SETD5 | n.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 |