Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.148807600A>G | CA2685464101 | EZH2 | n.4202T>C c.*1364T>C (n.*1364T>C) c.*1198T>C (n.*1198T>C) n.4021T>C n.4289T>C n.2618T>C n.2680T>C c.*46T>C (n.*46T>C) c.*2292T>C (n.*2292T>C) n.515+2515A>G n.722+2515A>G n.4676T>C n.5332T>C n.5792T>C | gnomAD v4 |
7 | g.148807600A>T | CA2685464102 | EZH2 | n.4202T>A c.*1364T>A (n.*1364T>A) c.*1198T>A (n.*1198T>A) n.4021T>A n.4289T>A n.2618T>A n.2680T>A c.*46T>A (n.*46T>A) c.*2292T>A (n.*2292T>A) n.515+2515A>T n.722+2515A>T n.4676T>A n.5332T>A n.5792T>A | gnomAD v4 |
7 | g.148807601A>T | CA2685464103 | EZH2 | n.4201T>A c.*1363T>A (n.*1363T>A) c.*1197T>A (n.*1197T>A) n.4020T>A n.4288T>A n.2617T>A n.2679T>A c.*45T>A (n.*45T>A) c.*2291T>A (n.*2291T>A) n.515+2516A>T n.722+2516A>T n.4675T>A n.5331T>A n.5791T>A | gnomAD v4 |
7 | g.148807602G>A | CA2685464104 | EZH2 | n.4200C>T c.*1362C>T (n.*1362C>T) c.*1196C>T (n.*1196C>T) n.4019C>T n.4287C>T n.2616C>T n.2678C>T c.*44C>T (n.*44C>T) c.*2290C>T (n.*2290C>T) n.515+2517G>A n.722+2517G>A n.4674C>T n.5330C>T n.5790C>T | gnomAD v4 |
7 | g.148807602G>T | CA2685464105 | EZH2 | n.4200C>A c.*1362C>A (n.*1362C>A) c.*1196C>A (n.*1196C>A) n.4019C>A n.4287C>A n.2616C>A n.2678C>A c.*44C>A (n.*44C>A) c.*2290C>A (n.*2290C>A) n.515+2517G>T n.722+2517G>T n.4674C>A n.5330C>A n.5790C>A | gnomAD v4 |
7 | g.148807603C>A | CA2685464106 | EZH2 | n.4199G>T c.*1361G>T (n.*1361G>T) c.*1195G>T (n.*1195G>T) n.4018G>T n.4286G>T n.2615G>T n.2677G>T c.*43G>T (n.*43G>T) c.*2289G>T (n.*2289G>T) n.515+2518C>A n.722+2518C>A n.4673G>T n.5329G>T n.5789G>T | gnomAD v4 |
7 | g.148807603C>T | CA2685464107 | EZH2 | n.4199G>A c.*1361G>A (n.*1361G>A) c.*1195G>A (n.*1195G>A) n.4018G>A n.4286G>A n.2615G>A n.2677G>A c.*43G>A (n.*43G>A) c.*2289G>A (n.*2289G>A) n.515+2518C>T n.722+2518C>T n.4673G>A n.5329G>A n.5789G>A | gnomAD v4 |
7 | g.148807604T>A | CA2716258704 | EZH2 | n.4198A>T c.*1360A>T (n.*1360A>T) c.*1194A>T (n.*1194A>T) n.4017A>T n.4285A>T n.2614A>T n.2676A>T c.*42A>T (n.*42A>T) c.*2288A>T (n.*2288A>T) n.515+2519T>A n.722+2519T>A n.4672A>T n.5328A>T n.5788A>T | dbSNP |
7 | g.148807604T= | CA1751419221 | EZH2 | n.4198A= c.*1360A= (n.*1360A=) c.*1194A= (n.*1194A=) n.4017A= n.4285A= n.2614A= n.2676A= c.*42A= (n.*42A=) c.*2288A= (n.*2288A=) n.515+2519T= n.722+2519T= n.4672A= n.5328A= n.5788A= | |
7 | g.148807605A= | CA1751419222 | EZH2 | n.4197T= c.*1359T= (n.*1359T=) c.*1193T= (n.*1193T=) n.4016T= n.4284T= n.2613T= n.2675T= c.*41T= (n.*41T=) c.*2287T= (n.*2287T=) n.515+2520A= n.722+2520A= n.4671T= n.5327T= n.5787T= | |
7 | g.148807605A>C | CA2685464109 | EZH2 | n.4197T>G c.*1359T>G (n.*1359T>G) c.*1193T>G (n.*1193T>G) n.4016T>G n.4284T>G n.2613T>G n.2675T>G c.*41T>G (n.*41T>G) c.*2287T>G (n.*2287T>G) n.515+2520A>C n.722+2520A>C n.4671T>G n.5327T>G n.5787T>G | gnomAD v4 |
7 | g.148807605A>G | CA578646383 | EZH2 | n.4197T>C c.*1359T>C (n.*1359T>C) c.*1193T>C (n.*1193T>C) n.4016T>C n.4284T>C n.2613T>C n.2675T>C c.*41T>C (n.*41T>C) c.*2287T>C (n.*2287T>C) n.515+2520A>G n.722+2520A>G n.4671T>C n.5327T>C n.5787T>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.148807605A>T | CA2685464110 | EZH2 | n.4197T>A c.*1359T>A (n.*1359T>A) c.*1193T>A (n.*1193T>A) n.4016T>A n.4284T>A n.2613T>A n.2675T>A c.*41T>A (n.*41T>A) c.*2287T>A (n.*2287T>A) n.515+2520A>T n.722+2520A>T n.4671T>A n.5327T>A n.5787T>A | gnomAD v4 |
7 | g.148807606dup | CA1108533051 | EZH2 | n.4197dup c.*1359dup (n.*1359dup) c.*1193dup (n.*1193dup) n.4016dup n.4284dup n.2613dup n.2675dup c.*41dup (n.*41dup) c.*2287dup (n.*2287dup) n.515+2521dup n.722+2521dup n.4671dup n.5327dup n.5787dup | dbSNP gnomAD v3 gnomAD v4 |
7 | g.148807606del | CA2685464108 | EZH2 | n.4197del c.*1359del (n.*1359del) c.*1193del (n.*1193del) n.4016del n.4284del n.2613del n.2675del c.*41del (n.*41del) c.*2287del (n.*2287del) n.515+2521del n.722+2521del n.4671del n.5327del n.5787del | gnomAD v4 |
7 | g.148807605_148807634dup | CA578646380 | EZH2 | n.4168_4197dup c.*1330_*1359dup (n.*1330_*1359dup) c.*1164_*1193dup (n.*1164_*1193dup) n.3987_4016dup n.4255_4284dup n.2584_2613dup n.2646_2675dup c.*12_*41dup (n.*12_*41dup) c.*2258_*2287dup (n.*2258_*2287dup) n.515+2520_515+2549dup n.722+2520_722+2549dup n.4642_4671dup n.5298_5327dup n.5758_5787dup | dbSNP gnomAD v2 gnomAD v4 |
7 | g.148807606A= | CA1751419224 | EZH2 | n.4196T= c.*1358T= (n.*1358T=) c.*1192T= (n.*1192T=) n.4015T= n.4283T= n.2612T= n.2674T= c.*40T= (n.*40T=) c.*2286T= (n.*2286T=) n.515+2521A= n.722+2521A= n.4670T= n.5326T= n.5786T= | |
7 | g.148807606A>G | CA1108533057 | EZH2 | n.4196T>C c.*1358T>C (n.*1358T>C) c.*1192T>C (n.*1192T>C) n.4015T>C n.4283T>C n.2612T>C n.2674T>C c.*40T>C (n.*40T>C) c.*2286T>C (n.*2286T>C) n.515+2521A>G n.722+2521A>G n.4670T>C n.5326T>C n.5786T>C | dbSNP gnomAD v3 gnomAD v4 |
7 | g.148807606A>T | CA2685464111 | EZH2 | n.4196T>A c.*1358T>A (n.*1358T>A) c.*1192T>A (n.*1192T>A) n.4015T>A n.4283T>A n.2612T>A n.2674T>A c.*40T>A (n.*40T>A) c.*2286T>A (n.*2286T>A) n.515+2521A>T n.722+2521A>T n.4670T>A n.5326T>A n.5786T>A | gnomAD v4 |
7 | g.148807607G>A | CA2685464112 | EZH2 | n.4195C>T c.*1357C>T (n.*1357C>T) c.*1191C>T (n.*1191C>T) n.4014C>T n.4282C>T n.2611C>T n.2673C>T c.*39C>T (n.*39C>T) c.*2285C>T (n.*2285C>T) n.515+2522G>A n.722+2522G>A n.4669C>T n.5325C>T n.5785C>T | gnomAD v4 |
7 | g.148807607G>T | CA2685464113 | EZH2 | n.4195C>A c.*1357C>A (n.*1357C>A) c.*1191C>A (n.*1191C>A) n.4014C>A n.4282C>A n.2611C>A n.2673C>A c.*39C>A (n.*39C>A) c.*2285C>A (n.*2285C>A) n.515+2522G>T n.722+2522G>T n.4669C>A n.5325C>A n.5785C>A | gnomAD v4 |
7 | g.148807608dup | CA2838352794 | EZH2 | n.4195dup c.*1357dup (n.*1357dup) c.*1191dup (n.*1191dup) n.4014dup n.4282dup n.2611dup n.2673dup c.*39dup (n.*39dup) c.*2285dup (n.*2285dup) n.515+2523dup n.722+2523dup n.4669dup n.5325dup n.5785dup | |
7 | g.148807608G>A | CA2579156949 | EZH2 | n.4194C>T c.*1356C>T (n.*1356C>T) c.*1190C>T (n.*1190C>T) n.4013C>T n.4281C>T n.2610C>T n.2672C>T c.*38C>T (n.*38C>T) c.*2284C>T (n.*2284C>T) n.515+2523G>A n.722+2523G>A n.4668C>T n.5324C>T n.5784C>T | dbSNP gnomAD v4 |
7 | g.148807608G>T | CA2685464114 | EZH2 | n.4194C>A c.*1356C>A (n.*1356C>A) c.*1190C>A (n.*1190C>A) n.4013C>A n.4281C>A n.2610C>A n.2672C>A c.*38C>A (n.*38C>A) c.*2284C>A (n.*2284C>A) n.515+2523G>T n.722+2523G>T n.4668C>A n.5324C>A n.5784C>A | gnomAD v4 |
7 | g.148807609C>A | CA2685464115 | EZH2 | n.4193G>T c.*1355G>T (n.*1355G>T) c.*1189G>T (n.*1189G>T) n.4012G>T n.4280G>T n.2609G>T n.2671G>T c.*37G>T (n.*37G>T) c.*2283G>T (n.*2283G>T) n.515+2524C>A n.722+2524C>A n.4667G>T n.5323G>T n.5783G>T | gnomAD v4 |
7 | g.148807609C>T | CA2579156950 | EZH2 | n.4193G>A c.*1355G>A (n.*1355G>A) c.*1189G>A (n.*1189G>A) n.4012G>A n.4280G>A n.2609G>A n.2671G>A c.*37G>A (n.*37G>A) c.*2283G>A (n.*2283G>A) n.515+2524C>T n.722+2524C>T n.4667G>A n.5323G>A n.5783G>A | gnomAD v4 |
7 | g.148807610A>C | CA2568392869 | EZH2 | n.4192T>G c.*1354T>G (n.*1354T>G) c.*1188T>G (n.*1188T>G) n.4011T>G n.4279T>G n.2608T>G n.2670T>G c.*36T>G (n.*36T>G) c.*2282T>G (n.*2282T>G) n.515+2525A>C n.722+2525A>C n.4666T>G n.5322T>G n.5782T>G | |
7 | g.148807610A>G | CA2685464118 | EZH2 | n.4192T>C c.*1354T>C (n.*1354T>C) c.*1188T>C (n.*1188T>C) n.4011T>C n.4279T>C n.2608T>C n.2670T>C c.*36T>C (n.*36T>C) c.*2282T>C (n.*2282T>C) n.515+2525A>G n.722+2525A>G n.4666T>C n.5322T>C n.5782T>C | gnomAD v4 |
7 | g.148807610A>T | CA2685464117 | EZH2 | n.4192T>A c.*1354T>A (n.*1354T>A) c.*1188T>A (n.*1188T>A) n.4011T>A n.4279T>A n.2608T>A n.2670T>A c.*36T>A (n.*36T>A) c.*2282T>A (n.*2282T>A) n.515+2525A>T n.722+2525A>T n.4666T>A n.5322T>A n.5782T>A | gnomAD v4 |
7 | g.148807610dup | CA2685464116 | EZH2 | n.4192dup c.*1354dup (n.*1354dup) c.*1188dup (n.*1188dup) n.4011dup n.4279dup n.2608dup n.2670dup c.*36dup (n.*36dup) c.*2282dup (n.*2282dup) n.515+2525dup n.722+2525dup n.4666dup n.5322dup n.5782dup | gnomAD v4 |
7 | g.148807611G>A | CA2685464119 | EZH2 | n.4191C>T c.*1353C>T (n.*1353C>T) c.*1187C>T (n.*1187C>T) n.4010C>T n.4278C>T n.2607C>T n.2669C>T c.*35C>T (n.*35C>T) c.*2281C>T (n.*2281C>T) n.515+2526G>A n.722+2526G>A n.4665C>T n.5321C>T n.5781C>T | gnomAD v4 |
7 | g.148807611G>C | CA1108533058 | EZH2 | n.4191C>G c.*1353C>G (n.*1353C>G) c.*1187C>G (n.*1187C>G) n.4010C>G n.4278C>G n.2607C>G n.2669C>G c.*35C>G (n.*35C>G) c.*2281C>G (n.*2281C>G) n.515+2526G>C n.722+2526G>C n.4665C>G n.5321C>G n.5781C>G | dbSNP gnomAD v3 gnomAD v4 |
7 | g.148807611G= | CA1751419225 | EZH2 | n.4191C= c.*1353C= (n.*1353C=) c.*1187C= (n.*1187C=) n.4010C= n.4278C= n.2607C= n.2669C= c.*35C= (n.*35C=) c.*2281C= (n.*2281C=) n.515+2526G= n.722+2526G= n.4665C= n.5321C= n.5781C= | |
7 | g.148807611G>T | CA2579156951 | EZH2 | n.4191C>A c.*1353C>A (n.*1353C>A) c.*1187C>A (n.*1187C>A) n.4010C>A n.4278C>A n.2607C>A n.2669C>A c.*35C>A (n.*35C>A) c.*2281C>A (n.*2281C>A) n.515+2526G>T n.722+2526G>T n.4665C>A n.5321C>A n.5781C>A | gnomAD v4 |
7 | g.148807612C>A | CA2685464120 | EZH2 | n.4190G>T c.*1352G>T (n.*1352G>T) c.*1186G>T (n.*1186G>T) n.4009G>T n.4277G>T n.2606G>T n.2668G>T c.*34G>T (n.*34G>T) c.*2280G>T (n.*2280G>T) n.515+2527C>A n.722+2527C>A n.4664G>T n.5320G>T n.5780G>T | gnomAD v4 |
7 | g.148807612C= | CA1751419226 | EZH2 | n.4190G= c.*1352G= (n.*1352G=) c.*1186G= (n.*1186G=) n.4009G= n.4277G= n.2606G= n.2668G= c.*34G= (n.*34G=) c.*2280G= (n.*2280G=) n.515+2527C= n.722+2527C= n.4664G= n.5320G= n.5780G= | |
7 | g.148807612C>T | CA2685464121 | EZH2 | n.4190G>A c.*1352G>A (n.*1352G>A) c.*1186G>A (n.*1186G>A) n.4009G>A n.4277G>A n.2606G>A n.2668G>A c.*34G>A (n.*34G>A) c.*2280G>A (n.*2280G>A) n.515+2527C>T n.722+2527C>T n.4664G>A n.5320G>A n.5780G>A | gnomAD v4 |
7 | g.148807613T>C | CA2685464122 | EZH2 | n.4189A>G c.*1351A>G (n.*1351A>G) c.*1185A>G (n.*1185A>G) n.4008A>G n.4276A>G n.2605A>G n.2667A>G c.*33A>G (n.*33A>G) c.*2279A>G (n.*2279A>G) n.515+2528T>C n.722+2528T>C n.4663A>G n.5319A>G n.5779A>G | gnomAD v4 |
7 | g.148807614_148807617dup | CA835018796 | EZH2 | n.4186_4189dup c.*1348_*1351dup (n.*1348_*1351dup) c.*1182_*1185dup (n.*1182_*1185dup) n.4005_4008dup n.4273_4276dup n.2602_2605dup n.2664_2667dup c.*30_*33dup (n.*30_*33dup) c.*2276_*2279dup (n.*2276_*2279dup) n.515+2529_515+2532dup n.722+2529_722+2532dup n.4660_4663dup n.5316_5319dup n.5776_5779dup | dbSNP gnomAD v3 gnomAD v4 |
7 | g.148807614G>A | CA578646385 | EZH2 | n.4188C>T c.*1350C>T (n.*1350C>T) c.*1184C>T (n.*1184C>T) n.4007C>T n.4275C>T n.2604C>T n.2666C>T c.*32C>T (n.*32C>T) c.*2278C>T (n.*2278C>T) n.515+2529G>A n.722+2529G>A n.4662C>T n.5318C>T n.5778C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.148807614G>C | CA168905447 | EZH2 | n.4188C>G c.*1350C>G (n.*1350C>G) c.*1184C>G (n.*1184C>G) n.4007C>G n.4275C>G n.2604C>G n.2666C>G c.*32C>G (n.*32C>G) c.*2278C>G (n.*2278C>G) n.515+2529G>C n.722+2529G>C n.4662C>G n.5318C>G n.5778C>G | dbSNP gnomAD v4 |
7 | g.148807614G= | CA1751419227 | EZH2 | n.4188C= c.*1350C= (n.*1350C=) c.*1184C= (n.*1184C=) n.4007C= n.4275C= n.2604C= n.2666C= c.*32C= (n.*32C=) c.*2278C= (n.*2278C=) n.515+2529G= n.722+2529G= n.4662C= n.5318C= n.5778C= | |
7 | g.148807614G>T | CA2685464123 | EZH2 | n.4188C>A c.*1350C>A (n.*1350C>A) c.*1184C>A (n.*1184C>A) n.4007C>A n.4275C>A n.2604C>A n.2666C>A c.*32C>A (n.*32C>A) c.*2278C>A (n.*2278C>A) n.515+2529G>T n.722+2529G>T n.4662C>A n.5318C>A n.5778C>A | gnomAD v4 |
7 | g.148807615T>C | CA2685464124 | EZH2 | n.4187A>G c.*1349A>G (n.*1349A>G) c.*1183A>G (n.*1183A>G) n.4006A>G n.4274A>G n.2603A>G n.2665A>G c.*31A>G (n.*31A>G) c.*2277A>G (n.*2277A>G) n.515+2530T>C n.722+2530T>C n.4661A>G n.5317A>G n.5777A>G | gnomAD v4 |
7 | g.148807615_148807616insATG | CA2778367072 | EZH2 | n.4186_4187insCAT c.*1348_*1349insCAT (n.*1348_*1349insCAT) c.*1182_*1183insCAT (n.*1182_*1183insCAT) n.4005_4006insCAT n.4273_4274insCAT n.2602_2603insCAT n.2664_2665insCAT c.*30_*31insCAT (n.*30_*31insCAT) c.*2276_*2277insCAT (n.*2276_*2277insCAT) n.515+2530_515+2531insATG n.722+2530_722+2531insATG n.4660_4661insCAT n.5316_5317insCAT n.5776_5777insCAT | |
7 | g.148807616T>C | CA2685464125 | EZH2 | n.4186A>G c.*1348A>G (n.*1348A>G) c.*1182A>G (n.*1182A>G) n.4005A>G n.4273A>G n.2602A>G n.2664A>G c.*30A>G (n.*30A>G) c.*2276A>G (n.*2276A>G) n.515+2531T>C n.722+2531T>C n.4660A>G n.5316A>G n.5776A>G | gnomAD v4 |
7 | g.148807616_148807617insA | CA2685464126 | EZH2 | n.4185_4186insT c.*1347_*1348insT (n.*1347_*1348insT) c.*1181_*1182insT (n.*1181_*1182insT) n.4004_4005insT n.4272_4273insT n.2601_2602insT n.2663_2664insT c.*29_*30insT (n.*29_*30insT) c.*2275_*2276insT (n.*2275_*2276insT) n.515+2531_515+2532insA n.722+2531_722+2532insA n.4659_4660insT n.5315_5316insT n.5775_5776insT | gnomAD v4 |
7 | g.148807617T>C | CA2513505469 | EZH2 | n.4185A>G c.*1347A>G (n.*1347A>G) c.*1181A>G (n.*1181A>G) n.4004A>G n.4272A>G n.2601A>G n.2663A>G c.*29A>G (n.*29A>G) c.*2275A>G (n.*2275A>G) n.515+2532T>C n.722+2532T>C n.4659A>G n.5315A>G n.5775A>G | |
7 | g.148807618C>A | CA2685464127 | EZH2 | n.4184G>T c.*1346G>T (n.*1346G>T) c.*1180G>T (n.*1180G>T) n.4003G>T n.4271G>T n.2600G>T n.2662G>T c.*28G>T (n.*28G>T) c.*2274G>T (n.*2274G>T) n.515+2533C>A n.722+2533C>A n.4658G>T n.5314G>T n.5774G>T | gnomAD v4 |
7 | g.148807618C= | CA1751419228 | EZH2 | n.4184G= c.*1346G= (n.*1346G=) c.*1180G= (n.*1180G=) n.4003G= n.4271G= n.2600G= n.2662G= c.*28G= (n.*28G=) c.*2274G= (n.*2274G=) n.515+2533C= n.722+2533C= n.4658G= n.5314G= n.5774G= | |
7 | g.148807618C>T | CA578646387 | EZH2 | n.4184G>A c.*1346G>A (n.*1346G>A) c.*1180G>A (n.*1180G>A) n.4003G>A n.4271G>A n.2600G>A n.2662G>A c.*28G>A (n.*28G>A) c.*2274G>A (n.*2274G>A) n.515+2533C>T n.722+2533C>T n.4658G>A n.5314G>A n.5774G>A | dbSNP gnomAD v2 gnomAD v4 |
7 | g.148807619A>G | CA2685464128 | EZH2 | n.4183T>C c.*1345T>C (n.*1345T>C) c.*1179T>C (n.*1179T>C) n.4002T>C n.4270T>C n.2599T>C n.2661T>C c.*27T>C (n.*27T>C) c.*2273T>C (n.*2273T>C) n.515+2534A>G n.722+2534A>G n.4657T>C n.5313T>C n.5773T>C | gnomAD v4 |
7 | g.148807619dup | CA2525603162 | EZH2 | n.4183dup c.*1345dup (n.*1345dup) c.*1179dup (n.*1179dup) n.4002dup n.4270dup n.2599dup n.2661dup c.*27dup (n.*27dup) c.*2273dup (n.*2273dup) n.515+2534dup n.722+2534dup n.4657dup n.5313dup n.5773dup | |
7 | g.148807620G>A | CA168905455 | EZH2 | n.4182C>T c.*1344C>T (n.*1344C>T) c.*1178C>T (n.*1178C>T) n.4001C>T n.4269C>T n.2598C>T n.2660C>T c.*26C>T (n.*26C>T) c.*2272C>T (n.*2272C>T) n.515+2535G>A n.722+2535G>A n.4656C>T n.5312C>T n.5772C>T | dbSNP gnomAD v4 |
7 | g.148807620G= | CA1751419229 | EZH2 | n.4182C= c.*1344C= (n.*1344C=) c.*1178C= (n.*1178C=) n.4001C= n.4269C= n.2598C= n.2660C= c.*26C= (n.*26C=) c.*2272C= (n.*2272C=) n.515+2535G= n.722+2535G= n.4656C= n.5312C= n.5772C= | |
7 | g.148807620G>T | CA4547642 | EZH2 | n.4182C>A c.*1344C>A (n.*1344C>A) c.*1178C>A (n.*1178C>A) n.4001C>A n.4269C>A n.2598C>A n.2660C>A c.*26C>A (n.*26C>A) c.*2272C>A (n.*2272C>A) n.515+2535G>T n.722+2535G>T n.4656C>A n.5312C>A n.5772C>A | dbSNP ExAC gnomAD v4 |
7 | g.148807627_148807636del | CA2685464129 | EZH2 | n.4173_4182del c.*1335_*1344del (n.*1335_*1344del) c.*1169_*1178del (n.*1169_*1178del) n.3992_4001del n.4260_4269del n.2589_2598del n.2651_2660del c.*17_*26del (n.*17_*26del) c.*2263_*2272del (n.*2263_*2272del) n.515+2542_515+2551del n.722+2542_722+2551del n.4647_4656del n.5303_5312del n.5763_5772del | gnomAD v4 |
7 | g.148807621A= | CA1751419231 | EZH2 | n.4181T= c.*1343T= (n.*1343T=) c.*1177T= (n.*1177T=) n.4000T= n.4268T= n.2597T= n.2659T= c.*25T= (n.*25T=) c.*2271T= (n.*2271T=) n.515+2536A= n.722+2536A= n.4655T= n.5311T= n.5771T= | |
7 | g.148807621A>G | CA578646389 | EZH2 | n.4181T>C c.*1343T>C (n.*1343T>C) c.*1177T>C (n.*1177T>C) n.4000T>C n.4268T>C n.2597T>C n.2659T>C c.*25T>C (n.*25T>C) c.*2271T>C (n.*2271T>C) n.515+2536A>G n.722+2536A>G n.4655T>C n.5311T>C n.5771T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.148807621A>T | CA2685464130 | EZH2 | n.4181T>A c.*1343T>A (n.*1343T>A) c.*1177T>A (n.*1177T>A) n.4000T>A n.4268T>A n.2597T>A n.2659T>A c.*25T>A (n.*25T>A) c.*2271T>A (n.*2271T>A) n.515+2536A>T n.722+2536A>T n.4655T>A n.5311T>A n.5771T>A | gnomAD v4 |
7 | g.148807621_148807622delinsAG | CA1751419230 | EZH2 | n.4180_4181delinsCT c.*1342_*1343delinsCT (n.*1342_*1343delinsCT) c.*1176_*1177delinsCT (n.*1176_*1177delinsCT) n.3999_4000delinsCT n.4267_4268delinsCT n.2596_2597delinsCT n.2658_2659delinsCT c.*24_*25delinsCT (n.*24_*25delinsCT) c.*2270_*2271delinsCT (n.*2270_*2271delinsCT) n.515+2536_515+2537delinsAG n.722+2536_722+2537delinsAG n.4654_4655delinsCT n.5310_5311delinsCT n.5770_5771delinsCT | |
7 | g.148807622G>A | CA4547644 | EZH2 | n.4180C>T c.*1342C>T (n.*1342C>T) c.*1176C>T (n.*1176C>T) n.3999C>T n.4267C>T n.2596C>T n.2658C>T c.*24C>T (n.*24C>T) c.*2270C>T (n.*2270C>T) n.515+2537G>A n.722+2537G>A n.4654C>T n.5310C>T n.5770C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.148807622G>C | CA578646393 | EZH2 | n.4180C>G c.*1342C>G (n.*1342C>G) c.*1176C>G (n.*1176C>G) n.3999C>G n.4267C>G n.2596C>G n.2658C>G c.*24C>G (n.*24C>G) c.*2270C>G (n.*2270C>G) n.515+2537G>C n.722+2537G>C n.4654C>G n.5310C>G n.5770C>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.148807622G= | CA1751419232 | EZH2 | n.4180C= c.*1342C= (n.*1342C=) c.*1176C= (n.*1176C=) n.3999C= n.4267C= n.2596C= n.2658C= c.*24C= (n.*24C=) c.*2270C= (n.*2270C=) n.515+2537G= n.722+2537G= n.4654C= n.5310C= n.5770C= | |
7 | g.148807622G>T | CA2685464131 | EZH2 | n.4180C>A c.*1342C>A (n.*1342C>A) c.*1176C>A (n.*1176C>A) n.3999C>A n.4267C>A n.2596C>A n.2658C>A c.*24C>A (n.*24C>A) c.*2270C>A (n.*2270C>A) n.515+2537G>T n.722+2537G>T n.4654C>A n.5310C>A n.5770C>A | gnomAD v4 |
7 | g.148807622_148807623del | CA2778367073 | EZH2 | n.4179_4180del c.*1341_*1342del (n.*1341_*1342del) c.*1175_*1176del (n.*1175_*1176del) n.3998_3999del n.4266_4267del n.2595_2596del n.2657_2658del c.*23_*24del (n.*23_*24del) c.*2269_*2270del (n.*2269_*2270del) n.515+2537_515+2538del n.722+2537_722+2538del n.4653_4654del n.5309_5310del n.5769_5770del | |
7 | g.148807623del | CA4547643 | EZH2 | n.4180del c.*1342del (n.*1342del) c.*1176del (n.*1176del) n.3999del n.4267del n.2596del n.2658del c.*24del (n.*24del) c.*2270del (n.*2270del) n.515+2538del n.722+2538del n.4654del n.5310del n.5770del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.148807627_148807633del | CA2579156952 | EZH2 | n.4174_4180del c.*1336_*1342del (n.*1336_*1342del) c.*1170_*1176del (n.*1170_*1176del) n.3993_3999del n.4261_4267del n.2590_2596del n.2652_2658del c.*18_*24del (n.*18_*24del) c.*2264_*2270del (n.*2264_*2270del) n.515+2542_515+2548del n.722+2542_722+2548del n.4648_4654del n.5304_5310del n.5764_5770del | gnomAD v4 |
7 | g.148807623G>T | CA2685464132 | EZH2 | n.4179C>A c.*1341C>A (n.*1341C>A) c.*1175C>A (n.*1175C>A) n.3998C>A n.4266C>A n.2595C>A n.2657C>A c.*23C>A (n.*23C>A) c.*2269C>A (n.*2269C>A) n.515+2538G>T n.722+2538G>T n.4653C>A n.5309C>A n.5769C>A | gnomAD v4 |
7 | g.148807623_148807624delinsGA | CA1751419233 | EZH2 | n.4178_4179delinsTC c.*1340_*1341delinsTC (n.*1340_*1341delinsTC) c.*1174_*1175delinsTC (n.*1174_*1175delinsTC) n.3997_3998delinsTC n.4265_4266delinsTC n.2594_2595delinsTC n.2656_2657delinsTC c.*22_*23delinsTC (n.*22_*23delinsTC) c.*2268_*2269delinsTC (n.*2268_*2269delinsTC) n.515+2538_515+2539delinsGA n.722+2538_722+2539delinsGA n.4652_4653delinsTC n.5308_5309delinsTC n.5768_5769delinsTC | |
7 | g.148807624del | CA578646396 | EZH2 | n.4178del c.*1340del (n.*1340del) c.*1174del (n.*1174del) n.3997del n.4265del n.2594del n.2656del c.*22del (n.*22del) c.*2268del (n.*2268del) n.515+2539del n.722+2539del n.4652del n.5308del n.5768del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.148807624A= | CA2742038501 | EZH2 | n.4178T= c.*1340T= (n.*1340T=) c.*1174T= (n.*1174T=) n.3997T= n.4265T= n.2594T= n.2656T= c.*22T= (n.*22T=) c.*2268T= (n.*2268T=) n.515+2539A= n.722+2539A= n.4652T= n.5308T= n.5768T= | |
7 | g.148807624_148807625delinsAG | CA2497029181 | EZH2 | n.4177_4178delinsCT c.*1339_*1340delinsCT (n.*1339_*1340delinsCT) c.*1173_*1174delinsCT (n.*1173_*1174delinsCT) n.3996_3997delinsCT n.4264_4265delinsCT n.2593_2594delinsCT n.2655_2656delinsCT c.*21_*22delinsCT (n.*21_*22delinsCT) c.*2267_*2268delinsCT (n.*2267_*2268delinsCT) n.515+2539_515+2540delinsAG n.722+2539_722+2540delinsAG n.4651_4652delinsCT n.5307_5308delinsCT n.5767_5768delinsCT | |
7 | g.148807624_148807626delinsAGG | CA1751419234 | EZH2 | n.4176_4178delinsCCT c.*1338_*1340delinsCCT (n.*1338_*1340delinsCCT) c.*1172_*1174delinsCCT (n.*1172_*1174delinsCCT) n.3995_3997delinsCCT n.4263_4265delinsCCT n.2592_2594delinsCCT n.2654_2656delinsCCT c.*20_*22delinsCCT (n.*20_*22delinsCCT) c.*2266_*2268delinsCCT (n.*2266_*2268delinsCCT) n.515+2539_515+2541delinsAGG n.722+2539_722+2541delinsAGG n.4650_4652delinsCCT n.5306_5308delinsCCT n.5766_5768delinsCCT | |
7 | g.148807625G>A | CA168905531 | EZH2 | n.4177C>T c.*1339C>T (n.*1339C>T) c.*1173C>T (n.*1173C>T) n.3996C>T n.4264C>T n.2593C>T n.2655C>T c.*21C>T (n.*21C>T) c.*2267C>T (n.*2267C>T) n.515+2540G>A n.722+2540G>A n.4651C>T n.5307C>T n.5767C>T | dbSNP |
7 | g.148807625G>C | CA2685464133 | EZH2 | n.4177C>G c.*1339C>G (n.*1339C>G) c.*1173C>G (n.*1173C>G) n.3996C>G n.4264C>G n.2593C>G n.2655C>G c.*21C>G (n.*21C>G) c.*2267C>G (n.*2267C>G) n.515+2540G>C n.722+2540G>C n.4651C>G n.5307C>G n.5767C>G | gnomAD v4 |
7 | g.148807625G= | CA1751419235 | EZH2 | n.4177C= c.*1339C= (n.*1339C=) c.*1173C= (n.*1173C=) n.3996C= n.4264C= n.2593C= n.2655C= c.*21C= (n.*21C=) c.*2267C= (n.*2267C=) n.515+2540G= n.722+2540G= n.4651C= n.5307C= n.5767C= | |
7 | g.148807625G>T | CA4547647 | EZH2 | n.4177C>A c.*1339C>A (n.*1339C>A) c.*1173C>A (n.*1173C>A) n.3996C>A n.4264C>A n.2593C>A n.2655C>A c.*21C>A (n.*21C>A) c.*2267C>A (n.*2267C>A) n.515+2540G>T n.722+2540G>T n.4651C>A n.5307C>A n.5767C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.148807630dup | CA4547646 | EZH2 | n.4177dup c.*1339dup (n.*1339dup) c.*1173dup (n.*1173dup) n.3996dup n.4264dup n.2593dup n.2655dup c.*21dup (n.*21dup) c.*2267dup (n.*2267dup) n.515+2545dup n.722+2545dup n.4651dup n.5307dup n.5767dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.148807630del | CA4547645 | EZH2 | n.4177del c.*1339del (n.*1339del) c.*1173del (n.*1173del) n.3996del n.4264del n.2593del n.2655del c.*21del (n.*21del) c.*2267del (n.*2267del) n.515+2545del n.722+2545del n.4651del n.5307del n.5767del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
7 | g.148807629_148807630del | CA1108533067 | EZH2 | n.4176_4177del c.*1338_*1339del (n.*1338_*1339del) c.*1172_*1173del (n.*1172_*1173del) n.3995_3996del n.4263_4264del n.2592_2593del n.2654_2655del c.*20_*21del (n.*20_*21del) c.*2266_*2267del (n.*2266_*2267del) n.515+2544_515+2545del n.722+2544_722+2545del n.4650_4651del n.5306_5307del n.5766_5767del | dbSNP gnomAD v3 gnomAD v4 |
7 | g.148807627_148807630del | CA2685464134 | EZH2 | n.4174_4177del c.*1336_*1339del (n.*1336_*1339del) c.*1170_*1173del (n.*1170_*1173del) n.3993_3996del n.4261_4264del n.2590_2593del n.2652_2655del c.*18_*21del (n.*18_*21del) c.*2264_*2267del (n.*2264_*2267del) n.515+2542_515+2545del n.722+2542_722+2545del n.4648_4651del n.5304_5307del n.5764_5767del | gnomAD v4 |
7 | g.148807626G>A | CA2579156953 | EZH2 | n.4176C>T c.*1338C>T (n.*1338C>T) c.*1172C>T (n.*1172C>T) n.3995C>T n.4263C>T n.2592C>T n.2654C>T c.*20C>T (n.*20C>T) c.*2266C>T (n.*2266C>T) n.515+2541G>A n.722+2541G>A n.4650C>T n.5306C>T n.5766C>T | gnomAD v4 |
7 | g.148807626G>C | CA4547649 | EZH2 | n.4176C>G c.*1338C>G (n.*1338C>G) c.*1172C>G (n.*1172C>G) n.3995C>G n.4263C>G n.2592C>G n.2654C>G c.*20C>G (n.*20C>G) c.*2266C>G (n.*2266C>G) n.515+2541G>C n.722+2541G>C n.4650C>G n.5306C>G n.5766C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.148807626G= | CA1751419236 | EZH2 | n.4176C= c.*1338C= (n.*1338C=) c.*1172C= (n.*1172C=) n.3995C= n.4263C= n.2592C= n.2654C= c.*20C= (n.*20C=) c.*2266C= (n.*2266C=) n.515+2541G= n.722+2541G= n.4650C= n.5306C= n.5766C= | |
7 | g.148807626G>T | CA4547648 | EZH2 | n.4176C>A c.*1338C>A (n.*1338C>A) c.*1172C>A (n.*1172C>A) n.3995C>A n.4263C>A n.2592C>A n.2654C>A c.*20C>A (n.*20C>A) c.*2266C>A (n.*2266C>A) n.515+2541G>T n.722+2541G>T n.4650C>A n.5306C>A n.5766C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.148807626_148807627insAG | CA2685464135 | EZH2 | n.4176_4177insTC c.*1338_*1339insTC (n.*1338_*1339insTC) c.*1172_*1173insTC (n.*1172_*1173insTC) n.3995_3996insTC n.4263_4264insTC n.2592_2593insTC n.2654_2655insTC c.*20_*21insTC (n.*20_*21insTC) c.*2266_*2267insTC (n.*2266_*2267insTC) n.515+2541_515+2542insAG n.722+2541_722+2542insAG n.4650_4651insTC n.5306_5307insTC n.5766_5767insTC | gnomAD v4 |
7 | g.148807626_148807627insAGGAG | CA2685464136 | EZH2 | n.4176_4177insTCCTC c.*1338_*1339insTCCTC (n.*1338_*1339insTCCTC) c.*1172_*1173insTCCTC (n.*1172_*1173insTCCTC) n.3995_3996insTCCTC n.4263_4264insTCCTC n.2592_2593insTCCTC n.2654_2655insTCCTC c.*20_*21insTCCTC (n.*20_*21insTCCTC) c.*2266_*2267insTCCTC (n.*2266_*2267insTCCTC) n.515+2541_515+2542insAGGAG n.722+2541_722+2542insAGGAG n.4650_4651insTCCTC n.5306_5307insTCCTC n.5766_5767insTCCTC | gnomAD v4 |
7 | g.148807627G>A | CA168905538 | EZH2 | n.4175C>T c.*1337C>T (n.*1337C>T) c.*1171C>T (n.*1171C>T) n.3994C>T n.4262C>T n.2591C>T n.2653C>T c.*19C>T (n.*19C>T) c.*2265C>T (n.*2265C>T) n.515+2542G>A n.722+2542G>A n.4649C>T n.5305C>T n.5765C>T | dbSNP gnomAD v3 gnomAD v4 |
7 | g.148807627G>C | CA4547650 | EZH2 | n.4175C>G c.*1337C>G (n.*1337C>G) c.*1171C>G (n.*1171C>G) n.3994C>G n.4262C>G n.2591C>G n.2653C>G c.*19C>G (n.*19C>G) c.*2265C>G (n.*2265C>G) n.515+2542G>C n.722+2542G>C n.4649C>G n.5305C>G n.5765C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.148807627G= | CA1751419237 | EZH2 | n.4175C= c.*1337C= (n.*1337C=) c.*1171C= (n.*1171C=) n.3994C= n.4262C= n.2591C= n.2653C= c.*19C= (n.*19C=) c.*2265C= (n.*2265C=) n.515+2542G= n.722+2542G= n.4649C= n.5305C= n.5765C= | |
7 | g.148807627G>T | CA2685464137 | EZH2 | n.4175C>A c.*1337C>A (n.*1337C>A) c.*1171C>A (n.*1171C>A) n.3994C>A n.4262C>A n.2591C>A n.2653C>A c.*19C>A (n.*19C>A) c.*2265C>A (n.*2265C>A) n.515+2542G>T n.722+2542G>T n.4649C>A n.5305C>A n.5765C>A | dbSNP gnomAD v4 |
7 | g.148807628G>A | CA2685464140 | EZH2 | n.4174C>T c.*1336C>T (n.*1336C>T) c.*1170C>T (n.*1170C>T) n.3993C>T n.4261C>T n.2590C>T n.2652C>T c.*18C>T (n.*18C>T) c.*2264C>T (n.*2264C>T) n.515+2543G>A n.722+2543G>A n.4648C>T n.5304C>T n.5764C>T | gnomAD v4 |
7 | g.148807628G>C | CA2579156954 | EZH2 | n.4174C>G c.*1336C>G (n.*1336C>G) c.*1170C>G (n.*1170C>G) n.3993C>G n.4261C>G n.2590C>G n.2652C>G c.*18C>G (n.*18C>G) c.*2264C>G (n.*2264C>G) n.515+2543G>C n.722+2543G>C n.4648C>G n.5304C>G n.5764C>G | gnomAD v4 |
7 | g.148807628G>T | CA2685464141 | EZH2 | n.4174C>A c.*1336C>A (n.*1336C>A) c.*1170C>A (n.*1170C>A) n.3993C>A n.4261C>A n.2590C>A n.2652C>A c.*18C>A (n.*18C>A) c.*2264C>A (n.*2264C>A) n.515+2543G>T n.722+2543G>T n.4648C>A n.5304C>A n.5764C>A | gnomAD v4 |
7 | g.148807630_148807633del | CA2685464138 | EZH2 | n.4171_4174del c.*1333_*1336del (n.*1333_*1336del) c.*1167_*1170del (n.*1167_*1170del) n.3990_3993del n.4258_4261del n.2587_2590del n.2649_2652del c.*15_*18del (n.*15_*18del) c.*2261_*2264del (n.*2261_*2264del) n.515+2545_515+2548del n.722+2545_722+2548del n.4645_4648del n.5301_5304del n.5761_5764del | gnomAD v4 |
7 | g.148807630_148807636del | CA2685464139 | EZH2 | n.4168_4174del c.*1330_*1336del (n.*1330_*1336del) c.*1164_*1170del (n.*1164_*1170del) n.3987_3993del n.4255_4261del n.2584_2590del n.2646_2652del c.*12_*18del (n.*12_*18del) c.*2258_*2264del (n.*2258_*2264del) n.515+2545_515+2551del n.722+2545_722+2551del n.4642_4648del n.5298_5304del n.5758_5764del | gnomAD v4 |
7 | g.148807629G>A | CA578646406 | EZH2 | n.4173C>T c.*1335C>T (n.*1335C>T) c.*1169C>T (n.*1169C>T) n.3992C>T n.4260C>T n.2589C>T n.2651C>T c.*17C>T (n.*17C>T) c.*2263C>T (n.*2263C>T) n.515+2544G>A n.722+2544G>A n.4647C>T n.5303C>T n.5763C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.148807629G>C | CA913124269 | EZH2 | n.4173C>G c.*1335C>G (n.*1335C>G) c.*1169C>G (n.*1169C>G) n.3992C>G n.4260C>G n.2589C>G n.2651C>G c.*17C>G (n.*17C>G) c.*2263C>G (n.*2263C>G) n.515+2544G>C n.722+2544G>C n.4647C>G n.5303C>G n.5763C>G | gnomAD v4 |
7 | g.148807629G= | CA1751419238 | EZH2 | n.4173C= c.*1335C= (n.*1335C=) c.*1169C= (n.*1169C=) n.3992C= n.4260C= n.2589C= n.2651C= c.*17C= (n.*17C=) c.*2263C= (n.*2263C=) n.515+2544G= n.722+2544G= n.4647C= n.5303C= n.5763C= | |
7 | g.148807629G>T | CA2685464142 | EZH2 | n.4173C>A c.*1335C>A (n.*1335C>A) c.*1169C>A (n.*1169C>A) n.3992C>A n.4260C>A n.2589C>A n.2651C>A c.*17C>A (n.*17C>A) c.*2263C>A (n.*2263C>A) n.515+2544G>T n.722+2544G>T n.4647C>A n.5303C>A n.5763C>A | gnomAD v4 |
7 | g.148807634_148807636del | CA2685464143 | EZH2 | n.4171_4173del c.*1333_*1335del (n.*1333_*1335del) c.*1167_*1169del (n.*1167_*1169del) n.3990_3992del n.4258_4260del n.2587_2589del n.2649_2651del c.*15_*17del (n.*15_*17del) c.*2261_*2263del (n.*2261_*2263del) n.515+2549_515+2551del n.722+2549_722+2551del n.4645_4647del n.5301_5303del n.5761_5763del | gnomAD v4 |
7 | g.148807630G>A | CA168905540 | EZH2 | n.4172C>T c.*1334C>T (n.*1334C>T) c.*1168C>T (n.*1168C>T) n.3991C>T n.4259C>T n.2588C>T n.2650C>T c.*16C>T (n.*16C>T) c.*2262C>T (n.*2262C>T) n.515+2545G>A n.722+2545G>A n.4646C>T n.5302C>T n.5762C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.148807630G= | CA1751419239 | EZH2 | n.4172C= c.*1334C= (n.*1334C=) c.*1168C= (n.*1168C=) n.3991C= n.4259C= n.2588C= n.2650C= c.*16C= (n.*16C=) c.*2262C= (n.*2262C=) n.515+2545G= n.722+2545G= n.4646C= n.5302C= n.5762C= | |
7 | g.148807630G>T | CA1108533078 | EZH2 | n.4172C>A c.*1334C>A (n.*1334C>A) c.*1168C>A (n.*1168C>A) n.3991C>A n.4259C>A n.2588C>A n.2650C>A c.*16C>A (n.*16C>A) c.*2262C>A (n.*2262C>A) n.515+2545G>T n.722+2545G>T n.4646C>A n.5302C>A n.5762C>A | dbSNP gnomAD v4 |
7 | g.148807631del | CA2579156955 | EZH2 | n.4171del c.*1333del (n.*1333del) c.*1167del (n.*1167del) n.3990del n.4258del n.2587del n.2649del c.*15del (n.*15del) c.*2261del (n.*2261del) n.515+2546del n.722+2546del n.4645del n.5301del n.5761del | dbSNP gnomAD v4 |
7 | g.148807631A= | CA1751419240 | EZH2 | n.4171T= c.*1333T= (n.*1333T=) c.*1167T= (n.*1167T=) n.3990T= n.4258T= n.2587T= n.2649T= c.*15T= (n.*15T=) c.*2261T= (n.*2261T=) n.515+2546A= n.722+2546A= n.4645T= n.5301T= n.5761T= | |
7 | g.148807631A>G | CA168905544 | EZH2 | n.4171T>C c.*1333T>C (n.*1333T>C) c.*1167T>C (n.*1167T>C) n.3990T>C n.4258T>C n.2587T>C n.2649T>C c.*15T>C (n.*15T>C) c.*2261T>C (n.*2261T>C) n.515+2546A>G n.722+2546A>G n.4645T>C n.5301T>C n.5761T>C | dbSNP |
7 | g.148807632G>A | CA458345608 | EZH2 | n.4170C>T c.*1332C>T (n.*1332C>T) c.*1166C>T (n.*1166C>T) n.3989C>T n.4257C>T n.2586C>T n.2648C>T c.*14C>T (n.*14C>T) c.*2260C>T (n.*2260C>T) n.515+2547G>A n.722+2547G>A n.4644C>T n.5300C>T n.5760C>T | dbSNP gnomAD v4 |
7 | g.148807632G>T | CA2685464144 | EZH2 | n.4170C>A c.*1332C>A (n.*1332C>A) c.*1166C>A (n.*1166C>A) n.3989C>A n.4257C>A n.2586C>A n.2648C>A c.*14C>A (n.*14C>A) c.*2260C>A (n.*2260C>A) n.515+2547G>T n.722+2547G>T n.4644C>A n.5300C>A n.5760C>A | gnomAD v4 |
7 | g.148807633G>A | CA2685464145 | EZH2 | n.4169C>T c.*1331C>T (n.*1331C>T) c.*1165C>T (n.*1165C>T) n.3988C>T n.4256C>T n.2585C>T n.2647C>T c.*13C>T (n.*13C>T) c.*2259C>T (n.*2259C>T) n.515+2548G>A n.722+2548G>A n.4643C>T n.5299C>T n.5759C>T | gnomAD v4 |
7 | g.148807633G= | CA1751419242 | EZH2 | n.4169C= c.*1331C= (n.*1331C=) c.*1165C= (n.*1165C=) n.3988C= n.4256C= n.2585C= n.2647C= c.*13C= (n.*13C=) c.*2259C= (n.*2259C=) n.515+2548G= n.722+2548G= n.4643C= n.5299C= n.5759C= | |
7 | g.148807633G>T | CA4547651 | EZH2 | n.4169C>A c.*1331C>A (n.*1331C>A) c.*1165C>A (n.*1165C>A) n.3988C>A n.4256C>A n.2585C>A n.2647C>A c.*13C>A (n.*13C>A) c.*2259C>A (n.*2259C>A) n.515+2548G>T n.722+2548G>T n.4643C>A n.5299C>A n.5759C>A | dbSNP ExAC gnomAD v4 |
7 | g.148807634A>G | CA2685464146 | EZH2 | n.4168T>C c.*1330T>C (n.*1330T>C) c.*1164T>C (n.*1164T>C) n.3987T>C n.4255T>C n.2584T>C n.2646T>C c.*12T>C (n.*12T>C) c.*2258T>C (n.*2258T>C) n.515+2549A>G n.722+2549A>G n.4642T>C n.5298T>C n.5758T>C | gnomAD v4 |
7 | g.148807634A>T | CA2685464147 | EZH2 | n.4168T>A c.*1330T>A (n.*1330T>A) c.*1164T>A (n.*1164T>A) n.3987T>A n.4255T>A n.2584T>A n.2646T>A c.*12T>A (n.*12T>A) c.*2258T>A (n.*2258T>A) n.515+2549A>T n.722+2549A>T n.4642T>A n.5298T>A n.5758T>A | gnomAD v4 |
7 | g.148807635G>A | CA2685464148 | EZH2 | n.4167C>T c.*1329C>T (n.*1329C>T) c.*1163C>T (n.*1163C>T) n.3986C>T n.4254C>T n.2583C>T n.2645C>T c.*11C>T (n.*11C>T) c.*2257C>T (n.*2257C>T) n.515+2550G>A n.722+2550G>A n.4641C>T n.5297C>T n.5757C>T | gnomAD v4 |
7 | g.148807635G>C | CA2685464149 | EZH2 | n.4167C>G c.*1329C>G (n.*1329C>G) c.*1163C>G (n.*1163C>G) n.3986C>G n.4254C>G n.2583C>G n.2645C>G c.*11C>G (n.*11C>G) c.*2257C>G (n.*2257C>G) n.515+2550G>C n.722+2550G>C n.4641C>G n.5297C>G n.5757C>G | gnomAD v4 |
7 | g.148807635G>T | CA2685464150 | EZH2 | n.4167C>A c.*1329C>A (n.*1329C>A) c.*1163C>A (n.*1163C>A) n.3986C>A n.4254C>A n.2583C>A n.2645C>A c.*11C>A (n.*11C>A) c.*2257C>A (n.*2257C>A) n.515+2550G>T n.722+2550G>T n.4641C>A n.5297C>A n.5757C>A | gnomAD v4 |
7 | g.148807636dup | CA2840108443 | EZH2 | n.4167dup c.*1329dup (n.*1329dup) c.*1163dup (n.*1163dup) n.3986dup n.4254dup n.2583dup n.2645dup c.*11dup (n.*11dup) c.*2257dup (n.*2257dup) n.515+2551dup n.722+2551dup n.4641dup n.5297dup n.5757dup | |
7 | g.148807636G>A | CA835018797 | EZH2 | n.4166C>T c.*1328C>T (n.*1328C>T) c.*1162C>T (n.*1162C>T) n.3985C>T n.4253C>T n.2582C>T n.2644C>T c.*10C>T (n.*10C>T) c.*2256C>T (n.*2256C>T) n.515+2551G>A n.722+2551G>A n.4640C>T n.5296C>T n.5756C>T | dbSNP gnomAD v4 |
7 | g.148807636G= | CA1751419244 | EZH2 | n.4166C= c.*1328C= (n.*1328C=) c.*1162C= (n.*1162C=) n.3985C= n.4253C= n.2582C= n.2644C= c.*10C= (n.*10C=) c.*2256C= (n.*2256C=) n.515+2551G= n.722+2551G= n.4640C= n.5296C= n.5756C= | |
7 | g.148807636G>T | CA2685464151 | EZH2 | n.4166C>A c.*1328C>A (n.*1328C>A) c.*1162C>A (n.*1162C>A) n.3985C>A n.4253C>A n.2582C>A n.2644C>A c.*10C>A (n.*10C>A) c.*2256C>A (n.*2256C>A) n.515+2551G>T n.722+2551G>T n.4640C>A n.5296C>A n.5756C>A | gnomAD v4 |
7 | g.148807637T>A | CA2685464152 | EZH2 | n.4165A>T c.*1327A>T (n.*1327A>T) c.*1161A>T (n.*1161A>T) n.3984A>T n.4252A>T n.2581A>T n.2643A>T c.*9A>T (n.*9A>T) c.*2255A>T (n.*2255A>T) n.515+2552T>A n.722+2552T>A n.4639A>T n.5295A>T n.5755A>T | gnomAD v4 |
7 | g.148807637T>C | CA2685464153 | EZH2 | n.4165A>G c.*1327A>G (n.*1327A>G) c.*1161A>G (n.*1161A>G) n.3984A>G n.4252A>G n.2581A>G n.2643A>G c.*9A>G (n.*9A>G) c.*2255A>G (n.*2255A>G) n.515+2552T>C n.722+2552T>C n.4639A>G n.5295A>G n.5755A>G | gnomAD v4 |
7 | g.148807637T>G | CA1751419250 | EZH2 | n.4165A>C c.*1327A>C (n.*1327A>C) c.*1161A>C (n.*1161A>C) n.3984A>C n.4252A>C n.2581A>C n.2643A>C c.*9A>C (n.*9A>C) c.*2255A>C (n.*2255A>C) n.515+2552T>G n.722+2552T>G n.4639A>C n.5295A>C n.5755A>C | dbSNP |
7 | g.148807637T= | CA1751419249 | EZH2 | n.4165A= c.*1327A= (n.*1327A=) c.*1161A= (n.*1161A=) n.3984A= n.4252A= n.2581A= n.2643A= c.*9A= (n.*9A=) c.*2255A= (n.*2255A=) n.515+2552T= n.722+2552T= n.4639A= n.5295A= n.5755A= | |
7 | g.148807638A>G | CA2685464154 | EZH2 | n.4164T>C c.*1326T>C (n.*1326T>C) c.*1160T>C (n.*1160T>C) n.3983T>C n.4251T>C n.2580T>C n.2642T>C c.*8T>C (n.*8T>C) c.*2254T>C (n.*2254T>C) n.515+2553A>G n.722+2553A>G n.4638T>C n.5294T>C n.5754T>C | gnomAD v4 |
7 | g.148807638dup | CA1108533080 | EZH2 | n.4164dup c.*1326dup (n.*1326dup) c.*1160dup (n.*1160dup) n.3983dup n.4251dup n.2580dup n.2642dup c.*8dup (n.*8dup) c.*2254dup (n.*2254dup) n.515+2553dup n.722+2553dup n.4638dup n.5294dup n.5754dup | dbSNP gnomAD v3 gnomAD v4 |
7 | g.148807639G>A | CA4547652 | EZH2 | n.4163C>T c.*1325C>T (n.*1325C>T) c.*1159C>T (n.*1159C>T) n.3982C>T n.4250C>T n.2579C>T n.2641C>T c.*7C>T (n.*7C>T) c.*2253C>T (n.*2253C>T) n.515+2554G>A n.722+2554G>A n.4637C>T n.5293C>T n.5753C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.148807639G= | CA1751419252 | EZH2 | n.4163C= c.*1325C= (n.*1325C=) c.*1159C= (n.*1159C=) n.3982C= n.4250C= n.2579C= n.2641C= c.*7C= (n.*7C=) c.*2253C= (n.*2253C=) n.515+2554G= n.722+2554G= n.4637C= n.5293C= n.5753C= | |
7 | g.148807639G>T | CA2685464155 | EZH2 | n.4163C>A c.*1325C>A (n.*1325C>A) c.*1159C>A (n.*1159C>A) n.3982C>A n.4250C>A n.2579C>A n.2641C>A c.*7C>A (n.*7C>A) c.*2253C>A (n.*2253C>A) n.515+2554G>T n.722+2554G>T n.4637C>A n.5293C>A n.5753C>A | gnomAD v4 |
7 | g.148807640C>A | CA2685464156 | EZH2 | n.4162G>T c.*1324G>T (n.*1324G>T) c.*1158G>T (n.*1158G>T) n.3981G>T n.4249G>T n.2578G>T n.2640G>T c.*6G>T (n.*6G>T) c.*2252G>T (n.*2252G>T) n.515+2555C>A n.722+2555C>A n.4636G>T n.5292G>T n.5752G>T | gnomAD v4 |
7 | g.148807640C= | CA1751419254 | EZH2 | n.4162G= c.*1324G= (n.*1324G=) c.*1158G= (n.*1158G=) n.3981G= n.4249G= n.2578G= n.2640G= c.*6G= (n.*6G=) c.*2252G= (n.*2252G=) n.515+2555C= n.722+2555C= n.4636G= n.5292G= n.5752G= | |
7 | g.148807640C>G | CA2685464157 | EZH2 | n.4162G>C c.*1324G>C (n.*1324G>C) c.*1158G>C (n.*1158G>C) n.3981G>C n.4249G>C n.2578G>C n.2640G>C c.*6G>C (n.*6G>C) c.*2252G>C (n.*2252G>C) n.515+2555C>G n.722+2555C>G n.4636G>C n.5292G>C n.5752G>C | gnomAD v4 |
7 | g.148807640C>T | CA168905553 | EZH2 | n.4162G>A c.*1324G>A (n.*1324G>A) c.*1158G>A (n.*1158G>A) n.3981G>A n.4249G>A n.2578G>A n.2640G>A c.*6G>A (n.*6G>A) c.*2252G>A (n.*2252G>A) n.515+2555C>T n.722+2555C>T n.4636G>A n.5292G>A n.5752G>A | dbSNP gnomAD v4 |
7 | g.148807641A= | CA1751419256 | EZH2 | n.4161T= c.*1323T= (n.*1323T=) c.*1157T= (n.*1157T=) n.3980T= n.4248T= n.2577T= n.2639T= c.*5T= (n.*5T=) c.*2251T= (n.*2251T=) n.515+2556A= n.722+2556A= n.4635T= n.5291T= n.5751T= | |
7 | g.148807641A>G | CA578646411 | EZH2 | n.4161T>C c.*1323T>C (n.*1323T>C) c.*1157T>C (n.*1157T>C) n.3980T>C n.4248T>C n.2577T>C n.2639T>C c.*5T>C (n.*5T>C) c.*2251T>C (n.*2251T>C) n.515+2556A>G n.722+2556A>G n.4635T>C n.5291T>C n.5751T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.148807641A>T | CA2685464158 | EZH2 | n.4161T>A c.*1323T>A (n.*1323T>A) c.*1157T>A (n.*1157T>A) n.3980T>A n.4248T>A n.2577T>A n.2639T>A c.*5T>A (n.*5T>A) c.*2251T>A (n.*2251T>A) n.515+2556A>T n.722+2556A>T n.4635T>A n.5291T>A n.5751T>A | gnomAD v4 |
7 | g.148807648_148807730del | CA2695202489 | EZH2 | n.4096-17_4161del c.*1258-17_*1323del c.*1092-17_*1157del n.3915-17_3980del n.4183-17_4248del n.2512-17_2577del n.2574-17_2639del c.2196-17_*5del c.2064-17_*5del c.2181-17_*5del c.2028-17_*5del c.2154-17_*5del c.*2186-17_*2251del c.2205-17_*5del c.2178-17_*5del c.2052-17_*5del c.2220-17_*5del c.2193-17_*5del c.2172-17_*5del c.2169-17_*5del c.2130-17_*5del c.2103-17_*5del c.2097-17_*5del c.2094-17_*5del c.2088-17_*5del c.2079-17_*5del c.2076-17_*5del c.1962-17_*5del c.1869-17_*5del n.515+2563_515+2645del n.722+2563_722+2645del c.2157-17_*5del c.1854-17_*5del c.2082-17_*5del n.4570-17_4635del n.5226-17_5291del n.5686-17_5751del | |
7 | g.148807642G>A | CA4547653 | EZH2 | n.4160C>T c.*1322C>T (n.*1322C>T) c.*1156C>T (n.*1156C>T) n.3979C>T n.4247C>T n.2576C>T n.2638C>T c.*4C>T (n.*4C>T) c.*2250C>T (n.*2250C>T) n.515+2557G>A n.722+2557G>A n.4634C>T n.5290C>T n.5750C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.148807642G>C | CA578646413 | EZH2 | n.4160C>G c.*1322C>G (n.*1322C>G) c.*1156C>G (n.*1156C>G) n.3979C>G n.4247C>G n.2576C>G n.2638C>G c.*4C>G (n.*4C>G) c.*2250C>G (n.*2250C>G) n.515+2557G>C n.722+2557G>C n.4634C>G n.5290C>G n.5750C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.148807642G= | CA1751419258 | EZH2 | n.4160C= c.*1322C= (n.*1322C=) c.*1156C= (n.*1156C=) n.3979C= n.4247C= n.2576C= n.2638C= c.*4C= (n.*4C=) c.*2250C= (n.*2250C=) n.515+2557G= n.722+2557G= n.4634C= n.5290C= n.5750C= | |
7 | g.148807642G>T | CA835018798 | EZH2 | n.4160C>A c.*1322C>A (n.*1322C>A) c.*1156C>A (n.*1156C>A) n.3979C>A n.4247C>A n.2576C>A n.2638C>A c.*4C>A (n.*4C>A) c.*2250C>A (n.*2250C>A) n.515+2557G>T n.722+2557G>T n.4634C>A n.5290C>A n.5750C>A | dbSNP gnomAD v4 |
7 | g.148807643A= | CA1751419260 | EZH2 | n.4159T= c.*1321T= (n.*1321T=) c.*1155T= (n.*1155T=) n.3978T= n.4246T= n.2575T= n.2637T= c.*3T= (n.*3T=) c.*2249T= (n.*2249T=) n.515+2558A= n.722+2558A= n.4633T= n.5289T= n.5749T= | |
7 | g.148807643A>G | CA4547654 | EZH2 | n.4159T>C c.*1321T>C (n.*1321T>C) c.*1155T>C (n.*1155T>C) n.3978T>C n.4246T>C n.2575T>C n.2637T>C c.*3T>C (n.*3T>C) c.*2249T>C (n.*2249T>C) n.515+2558A>G n.722+2558A>G n.4633T>C n.5289T>C n.5749T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.148807644T>C | CA835018799 | EZH2 | n.4158A>G c.*1320A>G (n.*1320A>G) c.*1154A>G (n.*1154A>G) n.3977A>G n.4245A>G n.2574A>G n.2636A>G c.*2A>G (n.*2A>G) c.*2248A>G (n.*2248A>G) n.515+2559T>C n.722+2559T>C n.4632A>G n.5288A>G n.5748A>G | dbSNP |
7 | g.148807644T>G | CA1751419262 | EZH2 | n.4158A>C c.*1320A>C (n.*1320A>C) c.*1154A>C (n.*1154A>C) n.3977A>C n.4245A>C n.2574A>C n.2636A>C c.*2A>C (n.*2A>C) c.*2248A>C (n.*2248A>C) n.515+2559T>G n.722+2559T>G n.4632A>C n.5288A>C n.5748A>C | dbSNP |
7 | g.148807644T= | CA1751419263 | EZH2 | n.4158A= c.*1320A= (n.*1320A=) c.*1154A= (n.*1154A=) n.3977A= n.4245A= n.2574A= n.2636A= c.*2A= (n.*2A=) c.*2248A= (n.*2248A=) n.515+2559T= n.722+2559T= n.4632A= n.5288A= n.5748A= | |
7 | g.148807644dup | CA4547655 | EZH2 | n.4158dup c.*1320dup (n.*1320dup) c.*1154dup (n.*1154dup) n.3977dup n.4245dup n.2574dup n.2636dup c.*2dup (n.*2dup) c.*2248dup (n.*2248dup) n.515+2559dup n.722+2559dup n.4632dup n.5288dup n.5748dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.148807645G>A | CA2685464159 | EZH2 | n.4157C>T c.*1319C>T (n.*1319C>T) c.*1153C>T (n.*1153C>T) n.3976C>T n.4244C>T n.2573C>T n.2635C>T c.*1C>T (n.*1C>T) c.*2247C>T (n.*2247C>T) n.515+2560G>A n.722+2560G>A n.4631C>T n.5287C>T n.5747C>T | gnomAD v4 |
7 | g.148807646T>A | CA369711728 | EZH2 | n.4156A>T c.*1318A>T (n.*1318A>T) c.*1152A>T (n.*1152A>T) n.3975A>T n.4243A>T n.2572A>T n.2634A>T c.2256A>T (p.Ter752Cys) c.2124A>T (p.Ter708Cys) c.2241A>T (p.Ter747Cys) c.2088A>T (p.Ter696Cys) c.2214A>T (p.Ter738Cys) c.*2246A>T (n.*2246A>T) c.2265A>T (p.Ter755Cys) c.2238A>T (p.Ter746Cys) c.2112A>T (p.Ter704Cys) c.2280A>T (p.Ter760Cys) c.2253A>T (p.Ter751Cys) c.2232A>T (p.Ter744Cys) c.2229A>T (p.Ter743Cys) c.2190A>T (p.Ter730Cys) c.2163A>T (p.Ter721Cys) c.2157A>T (p.Ter719Cys) c.2154A>T (p.Ter718Cys) c.2148A>T (p.Ter716Cys) c.2139A>T (p.Ter713Cys) c.2136A>T (p.Ter712Cys) c.2022A>T (p.Ter674Cys) c.1929A>T (p.Ter643Cys) n.515+2561T>A n.722+2561T>A c.2217A>T (p.Ter739Cys) c.1914A>T (p.Ter638Cys) c.2142A>T (p.Ter714Cys) n.4630A>T n.5286A>T n.5746A>T | dbSNP gnomAD v4 |
7 | g.148807646T>C | CA369711726 | EZH2 | n.4156A>G c.*1318A>G (n.*1318A>G) c.*1152A>G (n.*1152A>G) n.3975A>G n.4243A>G n.2572A>G n.2634A>G c.2256A>G (p.Ter752Trp) c.2124A>G (p.Ter708Trp) c.2241A>G (p.Ter747Trp) c.2088A>G (p.Ter696Trp) c.2214A>G (p.Ter738Trp) c.*2246A>G (n.*2246A>G) c.2265A>G (p.Ter755Trp) c.2238A>G (p.Ter746Trp) c.2112A>G (p.Ter704Trp) c.2280A>G (p.Ter760Trp) c.2253A>G (p.Ter751Trp) c.2232A>G (p.Ter744Trp) c.2229A>G (p.Ter743Trp) c.2190A>G (p.Ter730Trp) c.2163A>G (p.Ter721Trp) c.2157A>G (p.Ter719Trp) c.2154A>G (p.Ter718Trp) c.2148A>G (p.Ter716Trp) c.2139A>G (p.Ter713Trp) c.2136A>G (p.Ter712Trp) c.2022A>G (p.Ter674Trp) c.1929A>G (p.Ter643Trp) n.515+2561T>C n.722+2561T>C c.2217A>G (p.Ter739Trp) c.1914A>G (p.Ter638Trp) c.2142A>G (p.Ter714Trp) n.4630A>G n.5286A>G n.5746A>G | |
7 | g.148807646T>G | CA369711727 | EZH2 | n.4156A>C c.*1318A>C (n.*1318A>C) c.*1152A>C (n.*1152A>C) n.3975A>C n.4243A>C n.2572A>C n.2634A>C c.2256A>C (p.Ter752Cys) c.2124A>C (p.Ter708Cys) c.2241A>C (p.Ter747Cys) c.2088A>C (p.Ter696Cys) c.2214A>C (p.Ter738Cys) c.*2246A>C (n.*2246A>C) c.2265A>C (p.Ter755Cys) c.2238A>C (p.Ter746Cys) c.2112A>C (p.Ter704Cys) c.2280A>C (p.Ter760Cys) c.2253A>C (p.Ter751Cys) c.2232A>C (p.Ter744Cys) c.2229A>C (p.Ter743Cys) c.2190A>C (p.Ter730Cys) c.2163A>C (p.Ter721Cys) c.2157A>C (p.Ter719Cys) c.2154A>C (p.Ter718Cys) c.2148A>C (p.Ter716Cys) c.2139A>C (p.Ter713Cys) c.2136A>C (p.Ter712Cys) c.2022A>C (p.Ter674Cys) c.1929A>C (p.Ter643Cys) n.515+2561T>G n.722+2561T>G c.2217A>C (p.Ter739Cys) c.1914A>C (p.Ter638Cys) c.2142A>C (p.Ter714Cys) n.4630A>C n.5286A>C n.5746A>C | |
7 | g.148807647C>A | CA369711729 | EZH2 | n.4155G>T c.*1317G>T (n.*1317G>T) c.*1151G>T (n.*1151G>T) n.3974G>T n.4242G>T n.2571G>T n.2633G>T c.2255G>T (p.Ter752Leu) c.2123G>T (p.Ter708Leu) c.2240G>T (p.Ter747Leu) c.2087G>T (p.Ter696Leu) c.2213G>T (p.Ter738Leu) c.*2245G>T (n.*2245G>T) c.2264G>T (p.Ter755Leu) c.2237G>T (p.Ter746Leu) c.2111G>T (p.Ter704Leu) c.2279G>T (p.Ter760Leu) c.2252G>T (p.Ter751Leu) c.2231G>T (p.Ter744Leu) c.2228G>T (p.Ter743Leu) c.2189G>T (p.Ter730Leu) c.2162G>T (p.Ter721Leu) c.2156G>T (p.Ter719Leu) c.2153G>T (p.Ter718Leu) c.2147G>T (p.Ter716Leu) c.2138G>T (p.Ter713Leu) c.2135G>T (p.Ter712Leu) c.2021G>T (p.Ter674Leu) c.1928G>T (p.Ter643Leu) n.515+2562C>A n.722+2562C>A c.2216G>T (p.Ter739Leu) c.1913G>T (p.Ter638Leu) c.2141G>T (p.Ter714Leu) n.4629G>T n.5285G>T n.5745G>T | gnomAD v4 |
7 | g.148807647C>G | CA369711730 | EZH2 | n.4155G>C c.*1317G>C (n.*1317G>C) c.*1151G>C (n.*1151G>C) n.3974G>C n.4242G>C n.2571G>C n.2633G>C c.2255G>C (p.Ter752Ser) c.2123G>C (p.Ter708Ser) c.2240G>C (p.Ter747Ser) c.2087G>C (p.Ter696Ser) c.2213G>C (p.Ter738Ser) c.*2245G>C (n.*2245G>C) c.2264G>C (p.Ter755Ser) c.2237G>C (p.Ter746Ser) c.2111G>C (p.Ter704Ser) c.2279G>C (p.Ter760Ser) c.2252G>C (p.Ter751Ser) c.2231G>C (p.Ter744Ser) c.2228G>C (p.Ter743Ser) c.2189G>C (p.Ter730Ser) c.2162G>C (p.Ter721Ser) c.2156G>C (p.Ter719Ser) c.2153G>C (p.Ter718Ser) c.2147G>C (p.Ter716Ser) c.2138G>C (p.Ter713Ser) c.2135G>C (p.Ter712Ser) c.2021G>C (p.Ter674Ser) c.1928G>C (p.Ter643Ser) n.515+2562C>G n.722+2562C>G c.2216G>C (p.Ter739Ser) c.1913G>C (p.Ter638Ser) c.2141G>C (p.Ter714Ser) n.4629G>C n.5285G>C n.5745G>C | |
7 | g.148807647C>T | CA458345609 | EZH2 | n.4155G>A c.*1317G>A (n.*1317G>A) c.*1151G>A (n.*1151G>A) n.3974G>A n.4242G>A n.2571G>A n.2633G>A c.2255G>A (p.Ter752=) c.2123G>A (p.Ter708=) c.2240G>A (p.Ter747=) c.2087G>A (p.Ter696=) c.2213G>A (p.Ter738=) c.*2245G>A (n.*2245G>A) c.2264G>A (p.Ter755=) c.2237G>A (p.Ter746=) c.2111G>A (p.Ter704=) c.2279G>A (p.Ter760=) c.2252G>A (p.Ter751=) c.2231G>A (p.Ter744=) c.2228G>A (p.Ter743=) c.2189G>A (p.Ter730=) c.2162G>A (p.Ter721=) c.2156G>A (p.Ter719=) c.2153G>A (p.Ter718=) c.2147G>A (p.Ter716=) c.2138G>A (p.Ter713=) c.2135G>A (p.Ter712=) c.2021G>A (p.Ter674=) c.1928G>A (p.Ter643=) n.515+2562C>T n.722+2562C>T c.2216G>A (p.Ter739=) c.1913G>A (p.Ter638=) c.2141G>A (p.Ter714=) n.4629G>A n.5285G>A n.5745G>A | |
7 | g.148807648A>C | CA369711731 | EZH2 | n.4154T>G c.*1316T>G (n.*1316T>G) c.*1150T>G (n.*1150T>G) n.3973T>G n.4241T>G n.2570T>G n.2632T>G c.2254T>G (p.Ter752Gly) c.2122T>G (p.Ter708Gly) c.2239T>G (p.Ter747Gly) c.2086T>G (p.Ter696Gly) c.2212T>G (p.Ter738Gly) c.*2244T>G (n.*2244T>G) c.2263T>G (p.Ter755Gly) c.2236T>G (p.Ter746Gly) c.2110T>G (p.Ter704Gly) c.2278T>G (p.Ter760Gly) c.2251T>G (p.Ter751Gly) c.2230T>G (p.Ter744Gly) c.2227T>G (p.Ter743Gly) c.2188T>G (p.Ter730Gly) c.2161T>G (p.Ter721Gly) c.2155T>G (p.Ter719Gly) c.2152T>G (p.Ter718Gly) c.2146T>G (p.Ter716Gly) c.2137T>G (p.Ter713Gly) c.2134T>G (p.Ter712Gly) c.2020T>G (p.Ter674Gly) c.1927T>G (p.Ter643Gly) n.515+2563A>C n.722+2563A>C c.2215T>G (p.Ter739Gly) c.1912T>G (p.Ter638Gly) c.2140T>G (p.Ter714Gly) n.4628T>G n.5284T>G n.5744T>G | |
7 | g.148807648A>G | CA369711732 | EZH2 | n.4154T>C c.*1316T>C (n.*1316T>C) c.*1150T>C (n.*1150T>C) n.3973T>C n.4241T>C n.2570T>C n.2632T>C c.2254T>C (p.Ter752Arg) c.2122T>C (p.Ter708Arg) c.2239T>C (p.Ter747Arg) c.2086T>C (p.Ter696Arg) c.2212T>C (p.Ter738Arg) c.*2244T>C (n.*2244T>C) c.2263T>C (p.Ter755Arg) c.2236T>C (p.Ter746Arg) c.2110T>C (p.Ter704Arg) c.2278T>C (p.Ter760Arg) c.2251T>C (p.Ter751Arg) c.2230T>C (p.Ter744Arg) c.2227T>C (p.Ter743Arg) c.2188T>C (p.Ter730Arg) c.2161T>C (p.Ter721Arg) c.2155T>C (p.Ter719Arg) c.2152T>C (p.Ter718Arg) c.2146T>C (p.Ter716Arg) c.2137T>C (p.Ter713Arg) c.2134T>C (p.Ter712Arg) c.2020T>C (p.Ter674Arg) c.1927T>C (p.Ter643Arg) n.515+2563A>G n.722+2563A>G c.2215T>C (p.Ter739Arg) c.1912T>C (p.Ter638Arg) c.2140T>C (p.Ter714Arg) n.4628T>C n.5284T>C n.5744T>C | gnomAD v4 |
7 | g.148807648A>T | CA369711733 | EZH2 | n.4154T>A c.*1316T>A (n.*1316T>A) c.*1150T>A (n.*1150T>A) n.3973T>A n.4241T>A n.2570T>A n.2632T>A c.2254T>A (p.Ter752Arg) c.2122T>A (p.Ter708Arg) c.2239T>A (p.Ter747Arg) c.2086T>A (p.Ter696Arg) c.2212T>A (p.Ter738Arg) c.*2244T>A (n.*2244T>A) c.2263T>A (p.Ter755Arg) c.2236T>A (p.Ter746Arg) c.2110T>A (p.Ter704Arg) c.2278T>A (p.Ter760Arg) c.2251T>A (p.Ter751Arg) c.2230T>A (p.Ter744Arg) c.2227T>A (p.Ter743Arg) c.2188T>A (p.Ter730Arg) c.2161T>A (p.Ter721Arg) c.2155T>A (p.Ter719Arg) c.2152T>A (p.Ter718Arg) c.2146T>A (p.Ter716Arg) c.2137T>A (p.Ter713Arg) c.2134T>A (p.Ter712Arg) c.2020T>A (p.Ter674Arg) c.1927T>A (p.Ter643Arg) n.515+2563A>T n.722+2563A>T c.2215T>A (p.Ter739Arg) c.1912T>A (p.Ter638Arg) c.2140T>A (p.Ter714Arg) n.4628T>A n.5284T>A n.5744T>A | |
7 | g.148807649dup | CA2840108444 | EZH2 | n.4154dup c.*1316dup (n.*1316dup) c.*1150dup (n.*1150dup) n.3973dup n.4241dup n.2570dup n.2632dup c.2254dup (p.Ter752LeuextTer11) c.2122dup (p.Ter708LeuextTer11) c.2239dup (p.Ter747LeuextTer11) c.2086dup (p.Ter696LeuextTer11) c.2212dup (p.Ter738LeuextTer11) c.*2244dup (n.*2244dup) c.2263dup (p.Ter755LeuextTer11) c.2236dup (p.Ter746LeuextTer11) c.2110dup (p.Ter704LeuextTer11) c.2278dup (p.Ter760LeuextTer11) c.2251dup (p.Ter751LeuextTer11) c.2230dup (p.Ter744LeuextTer11) c.2227dup (p.Ter743LeuextTer11) c.2188dup (p.Ter730LeuextTer11) c.2161dup (p.Ter721LeuextTer11) c.2155dup (p.Ter719LeuextTer11) c.2152dup (p.Ter718LeuextTer11) c.2146dup (p.Ter716LeuextTer11) c.2137dup (p.Ter713LeuextTer11) c.2134dup (p.Ter712LeuextTer11) c.2020dup (p.Ter674LeuextTer11) c.1927dup (p.Ter643LeuextTer11) n.515+2564dup n.722+2564dup c.2215dup (p.Ter739LeuextTer11) c.1912dup (p.Ter638LeuextTer11) c.2140dup (p.Ter714LeuextTer11) n.4628dup n.5284dup n.5744dup | |
7 | g.148807649A>C | CA458345610 | EZH2 | n.4153T>G c.*1315T>G (n.*1315T>G) c.*1149T>G (n.*1149T>G) n.3972T>G n.4240T>G n.2569T>G n.2631T>G c.2253T>G (p.Pro751=) c.2121T>G (p.Pro707=) c.2238T>G (p.Pro746=) c.2085T>G (p.Pro695=) c.2211T>G (p.Pro737=) c.*2243T>G (n.*2243T>G) c.2262T>G (p.Pro754=) c.2235T>G (p.Pro745=) c.2109T>G (p.Pro703=) c.2277T>G (p.Pro759=) c.2250T>G (p.Pro750=) c.2229T>G (p.Pro743=) c.2226T>G (p.Pro742=) c.2187T>G (p.Pro729=) c.2160T>G (p.Pro720=) c.2154T>G (p.Pro718=) c.2151T>G (p.Pro717=) c.2145T>G (p.Pro715=) c.2136T>G (p.Pro712=) c.2133T>G (p.Pro711=) c.2019T>G (p.Pro673=) c.1926T>G (p.Pro642=) n.515+2564A>C n.722+2564A>C c.2214T>G (p.Pro738=) c.1911T>G (p.Pro637=) c.2139T>G (p.Pro713=) n.4627T>G n.5283T>G n.5743T>G | |
7 | g.148807649A>G | CA458345612 | EZH2 | n.4153T>C c.*1315T>C (n.*1315T>C) c.*1149T>C (n.*1149T>C) n.3972T>C n.4240T>C n.2569T>C n.2631T>C c.2253T>C (p.Pro751=) c.2121T>C (p.Pro707=) c.2238T>C (p.Pro746=) c.2085T>C (p.Pro695=) c.2211T>C (p.Pro737=) c.*2243T>C (n.*2243T>C) c.2262T>C (p.Pro754=) c.2235T>C (p.Pro745=) c.2109T>C (p.Pro703=) c.2277T>C (p.Pro759=) c.2250T>C (p.Pro750=) c.2229T>C (p.Pro743=) c.2226T>C (p.Pro742=) c.2187T>C (p.Pro729=) c.2160T>C (p.Pro720=) c.2154T>C (p.Pro718=) c.2151T>C (p.Pro717=) c.2145T>C (p.Pro715=) c.2136T>C (p.Pro712=) c.2133T>C (p.Pro711=) c.2019T>C (p.Pro673=) c.1926T>C (p.Pro642=) n.515+2564A>G n.722+2564A>G c.2214T>C (p.Pro738=) c.1911T>C (p.Pro637=) c.2139T>C (p.Pro713=) n.4627T>C n.5283T>C n.5743T>C | gnomAD v4 |
7 | g.148807649A>T | CA458345611 | EZH2 | n.4153T>A c.*1315T>A (n.*1315T>A) c.*1149T>A (n.*1149T>A) n.3972T>A n.4240T>A n.2569T>A n.2631T>A c.2253T>A (p.Pro751=) c.2121T>A (p.Pro707=) c.2238T>A (p.Pro746=) c.2085T>A (p.Pro695=) c.2211T>A (p.Pro737=) c.*2243T>A (n.*2243T>A) c.2262T>A (p.Pro754=) c.2235T>A (p.Pro745=) c.2109T>A (p.Pro703=) c.2277T>A (p.Pro759=) c.2250T>A (p.Pro750=) c.2229T>A (p.Pro743=) c.2226T>A (p.Pro742=) c.2187T>A (p.Pro729=) c.2160T>A (p.Pro720=) c.2154T>A (p.Pro718=) c.2151T>A (p.Pro717=) c.2145T>A (p.Pro715=) c.2136T>A (p.Pro712=) c.2133T>A (p.Pro711=) c.2019T>A (p.Pro673=) c.1926T>A (p.Pro642=) n.515+2564A>T n.722+2564A>T c.2214T>A (p.Pro738=) c.1911T>A (p.Pro637=) c.2139T>A (p.Pro713=) n.4627T>A n.5283T>A n.5743T>A | |
7 | g.148807650G>A | CA369711734 | EZH2 | n.4152C>T c.*1314C>T (n.*1314C>T) c.*1148C>T (n.*1148C>T) n.3971C>T n.4239C>T n.2568C>T n.2630C>T c.2252C>T (p.Pro751Leu) c.2120C>T (p.Pro707Leu) c.2237C>T (p.Pro746Leu) c.2084C>T (p.Pro695Leu) c.2210C>T (p.Pro737Leu) c.*2242C>T (n.*2242C>T) c.2261C>T (p.Pro754Leu) c.2234C>T (p.Pro745Leu) c.2108C>T (p.Pro703Leu) c.2276C>T (p.Pro759Leu) c.2249C>T (p.Pro750Leu) c.2228C>T (p.Pro743Leu) c.2225C>T (p.Pro742Leu) c.2186C>T (p.Pro729Leu) c.2159C>T (p.Pro720Leu) c.2153C>T (p.Pro718Leu) c.2150C>T (p.Pro717Leu) c.2144C>T (p.Pro715Leu) c.2135C>T (p.Pro712Leu) c.2132C>T (p.Pro711Leu) c.2018C>T (p.Pro673Leu) c.1925C>T (p.Pro642Leu) n.515+2565G>A n.722+2565G>A c.2213C>T (p.Pro738Leu) c.1910C>T (p.Pro637Leu) c.2138C>T (p.Pro713Leu) n.4626C>T n.5282C>T n.5742C>T | gnomAD v4 |
7 | g.148807650G>C | CA369711735 | EZH2 | n.4152C>G c.*1314C>G (n.*1314C>G) c.*1148C>G (n.*1148C>G) n.3971C>G n.4239C>G n.2568C>G n.2630C>G c.2252C>G (p.Pro751Arg) c.2120C>G (p.Pro707Arg) c.2237C>G (p.Pro746Arg) c.2084C>G (p.Pro695Arg) c.2210C>G (p.Pro737Arg) c.*2242C>G (n.*2242C>G) c.2261C>G (p.Pro754Arg) c.2234C>G (p.Pro745Arg) c.2108C>G (p.Pro703Arg) c.2276C>G (p.Pro759Arg) c.2249C>G (p.Pro750Arg) c.2228C>G (p.Pro743Arg) c.2225C>G (p.Pro742Arg) c.2186C>G (p.Pro729Arg) c.2159C>G (p.Pro720Arg) c.2153C>G (p.Pro718Arg) c.2150C>G (p.Pro717Arg) c.2144C>G (p.Pro715Arg) c.2135C>G (p.Pro712Arg) c.2132C>G (p.Pro711Arg) c.2018C>G (p.Pro673Arg) c.1925C>G (p.Pro642Arg) n.515+2565G>C n.722+2565G>C c.2213C>G (p.Pro738Arg) c.1910C>G (p.Pro637Arg) c.2138C>G (p.Pro713Arg) n.4626C>G n.5282C>G n.5742C>G | |
7 | g.148807650G>T | CA369711736 | EZH2 | n.4152C>A c.*1314C>A (n.*1314C>A) c.*1148C>A (n.*1148C>A) n.3971C>A n.4239C>A n.2568C>A n.2630C>A c.2252C>A (p.Pro751His) c.2120C>A (p.Pro707His) c.2237C>A (p.Pro746His) c.2084C>A (p.Pro695His) c.2210C>A (p.Pro737His) c.*2242C>A (n.*2242C>A) c.2261C>A (p.Pro754His) c.2234C>A (p.Pro745His) c.2108C>A (p.Pro703His) c.2276C>A (p.Pro759His) c.2249C>A (p.Pro750His) c.2228C>A (p.Pro743His) c.2225C>A (p.Pro742His) c.2186C>A (p.Pro729His) c.2159C>A (p.Pro720His) c.2153C>A (p.Pro718His) c.2150C>A (p.Pro717His) c.2144C>A (p.Pro715His) c.2135C>A (p.Pro712His) c.2132C>A (p.Pro711His) c.2018C>A (p.Pro673His) c.1925C>A (p.Pro642His) n.515+2565G>T n.722+2565G>T c.2213C>A (p.Pro738His) c.1910C>A (p.Pro637His) c.2138C>A (p.Pro713His) n.4626C>A n.5282C>A n.5742C>A | gnomAD v4 |
7 | g.148807651G>A | CA369711737 | EZH2 | n.4151C>T c.*1313C>T (n.*1313C>T) c.*1147C>T (n.*1147C>T) n.3970C>T n.4238C>T n.2567C>T n.2629C>T c.2251C>T (p.Pro751Ser) c.2119C>T (p.Pro707Ser) c.2236C>T (p.Pro746Ser) c.2083C>T (p.Pro695Ser) c.2209C>T (p.Pro737Ser) c.*2241C>T (n.*2241C>T) c.2260C>T (p.Pro754Ser) c.2233C>T (p.Pro745Ser) c.2107C>T (p.Pro703Ser) c.2275C>T (p.Pro759Ser) c.2248C>T (p.Pro750Ser) c.2227C>T (p.Pro743Ser) c.2224C>T (p.Pro742Ser) c.2185C>T (p.Pro729Ser) c.2158C>T (p.Pro720Ser) c.2152C>T (p.Pro718Ser) c.2149C>T (p.Pro717Ser) c.2143C>T (p.Pro715Ser) c.2134C>T (p.Pro712Ser) c.2131C>T (p.Pro711Ser) c.2017C>T (p.Pro673Ser) c.1924C>T (p.Pro642Ser) n.515+2566G>A n.722+2566G>A c.2212C>T (p.Pro738Ser) c.1909C>T (p.Pro637Ser) c.2137C>T (p.Pro713Ser) n.4625C>T n.5281C>T n.5741C>T | |
7 | g.148807651G>C | CA369711738 | EZH2 | n.4151C>G c.*1313C>G (n.*1313C>G) c.*1147C>G (n.*1147C>G) n.3970C>G n.4238C>G n.2567C>G n.2629C>G c.2251C>G (p.Pro751Ala) c.2119C>G (p.Pro707Ala) c.2236C>G (p.Pro746Ala) c.2083C>G (p.Pro695Ala) c.2209C>G (p.Pro737Ala) c.*2241C>G (n.*2241C>G) c.2260C>G (p.Pro754Ala) c.2233C>G (p.Pro745Ala) c.2107C>G (p.Pro703Ala) c.2275C>G (p.Pro759Ala) c.2248C>G (p.Pro750Ala) c.2227C>G (p.Pro743Ala) c.2224C>G (p.Pro742Ala) c.2185C>G (p.Pro729Ala) c.2158C>G (p.Pro720Ala) c.2152C>G (p.Pro718Ala) c.2149C>G (p.Pro717Ala) c.2143C>G (p.Pro715Ala) c.2134C>G (p.Pro712Ala) c.2131C>G (p.Pro711Ala) c.2017C>G (p.Pro673Ala) c.1924C>G (p.Pro642Ala) n.515+2566G>C n.722+2566G>C c.2212C>G (p.Pro738Ala) c.1909C>G (p.Pro637Ala) c.2137C>G (p.Pro713Ala) n.4625C>G n.5281C>G n.5741C>G | gnomAD v4 |
7 | g.148807651G>T | CA369711739 | EZH2 | n.4151C>A c.*1313C>A (n.*1313C>A) c.*1147C>A (n.*1147C>A) n.3970C>A n.4238C>A n.2567C>A n.2629C>A c.2251C>A (p.Pro751Thr) c.2119C>A (p.Pro707Thr) c.2236C>A (p.Pro746Thr) c.2083C>A (p.Pro695Thr) c.2209C>A (p.Pro737Thr) c.*2241C>A (n.*2241C>A) c.2260C>A (p.Pro754Thr) c.2233C>A (p.Pro745Thr) c.2107C>A (p.Pro703Thr) c.2275C>A (p.Pro759Thr) c.2248C>A (p.Pro750Thr) c.2227C>A (p.Pro743Thr) c.2224C>A (p.Pro742Thr) c.2185C>A (p.Pro729Thr) c.2158C>A (p.Pro720Thr) c.2152C>A (p.Pro718Thr) c.2149C>A (p.Pro717Thr) c.2143C>A (p.Pro715Thr) c.2134C>A (p.Pro712Thr) c.2131C>A (p.Pro711Thr) c.2017C>A (p.Pro673Thr) c.1924C>A (p.Pro642Thr) n.515+2566G>T n.722+2566G>T c.2212C>A (p.Pro738Thr) c.1909C>A (p.Pro637Thr) c.2137C>A (p.Pro713Thr) n.4625C>A n.5281C>A n.5741C>A | gnomAD v4 |
7 | g.148807652G>A | CA4547656 | EZH2 | n.4150C>T c.*1312C>T (n.*1312C>T) c.*1146C>T (n.*1146C>T) n.3969C>T n.4237C>T n.2566C>T n.2628C>T c.2250C>T (p.Ile750=) c.2118C>T (p.Ile706=) c.2235C>T (p.Ile745=) c.2082C>T (p.Ile694=) c.2208C>T (p.Ile736=) c.*2240C>T (n.*2240C>T) c.2259C>T (p.Ile753=) c.2232C>T (p.Ile744=) c.2106C>T (p.Ile702=) c.2274C>T (p.Ile758=) c.2247C>T (p.Ile749=) c.2226C>T (p.Ile742=) c.2223C>T (p.Ile741=) c.2184C>T (p.Ile728=) c.2157C>T (p.Ile719=) c.2151C>T (p.Ile717=) c.2148C>T (p.Ile716=) c.2142C>T (p.Ile714=) c.2133C>T (p.Ile711=) c.2130C>T (p.Ile710=) c.2016C>T (p.Ile672=) c.1923C>T (p.Ile641=) n.515+2567G>A n.722+2567G>A c.2211C>T (p.Ile737=) c.1908C>T (p.Ile636=) c.2136C>T (p.Ile712=) n.4624C>T n.5280C>T n.5740C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.148807652G>C | CA4547657 | EZH2 | n.4150C>G c.*1312C>G (n.*1312C>G) c.*1146C>G (n.*1146C>G) n.3969C>G n.4237C>G n.2566C>G n.2628C>G c.2250C>G (p.Ile750Met) c.2118C>G (p.Ile706Met) c.2235C>G (p.Ile745Met) c.2082C>G (p.Ile694Met) c.2208C>G (p.Ile736Met) c.*2240C>G (n.*2240C>G) c.2259C>G (p.Ile753Met) c.2232C>G (p.Ile744Met) c.2106C>G (p.Ile702Met) c.2274C>G (p.Ile758Met) c.2247C>G (p.Ile749Met) c.2226C>G (p.Ile742Met) c.2223C>G (p.Ile741Met) c.2184C>G (p.Ile728Met) c.2157C>G (p.Ile719Met) c.2151C>G (p.Ile717Met) c.2148C>G (p.Ile716Met) c.2142C>G (p.Ile714Met) c.2133C>G (p.Ile711Met) c.2130C>G (p.Ile710Met) c.2016C>G (p.Ile672Met) c.1923C>G (p.Ile641Met) n.515+2567G>C n.722+2567G>C c.2211C>G (p.Ile737Met) c.1908C>G (p.Ile636Met) c.2136C>G (p.Ile712Met) n.4624C>G n.5280C>G n.5740C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.148807652G= | CA1751419268 | EZH2 | n.4150C= c.*1312C= (n.*1312C=) c.*1146C= (n.*1146C=) n.3969C= n.4237C= n.2566C= n.2628C= c.2250C= (p.Ile750=) c.2118C= (p.Ile706=) c.2235C= (p.Ile745=) c.2082C= (p.Ile694=) c.2208C= (p.Ile736=) c.*2240C= (n.*2240C=) c.2259C= (p.Ile753=) c.2232C= (p.Ile744=) c.2106C= (p.Ile702=) c.2274C= (p.Ile758=) c.2247C= (p.Ile749=) c.2226C= (p.Ile742=) c.2223C= (p.Ile741=) c.2184C= (p.Ile728=) c.2157C= (p.Ile719=) c.2151C= (p.Ile717=) c.2148C= (p.Ile716=) c.2142C= (p.Ile714=) c.2133C= (p.Ile711=) c.2130C= (p.Ile710=) c.2016C= (p.Ile672=) c.1923C= (p.Ile641=) n.515+2567G= n.722+2567G= c.2211C= (p.Ile737=) c.1908C= (p.Ile636=) c.2136C= (p.Ile712=) n.4624C= n.5280C= n.5740C= | |
7 | g.148807652G>T | CA458345613 | EZH2 | n.4150C>A c.*1312C>A (n.*1312C>A) c.*1146C>A (n.*1146C>A) n.3969C>A n.4237C>A n.2566C>A n.2628C>A c.2250C>A (p.Ile750=) c.2118C>A (p.Ile706=) c.2235C>A (p.Ile745=) c.2082C>A (p.Ile694=) c.2208C>A (p.Ile736=) c.*2240C>A (n.*2240C>A) c.2259C>A (p.Ile753=) c.2232C>A (p.Ile744=) c.2106C>A (p.Ile702=) c.2274C>A (p.Ile758=) c.2247C>A (p.Ile749=) c.2226C>A (p.Ile742=) c.2223C>A (p.Ile741=) c.2184C>A (p.Ile728=) c.2157C>A (p.Ile719=) c.2151C>A (p.Ile717=) c.2148C>A (p.Ile716=) c.2142C>A (p.Ile714=) c.2133C>A (p.Ile711=) c.2130C>A (p.Ile710=) c.2016C>A (p.Ile672=) c.1923C>A (p.Ile641=) n.515+2567G>T n.722+2567G>T c.2211C>A (p.Ile737=) c.1908C>A (p.Ile636=) c.2136C>A (p.Ile712=) n.4624C>A n.5280C>A n.5740C>A | gnomAD v4 |
7 | g.148807653A= | CA1751419272 | EZH2 | n.4149T= c.*1311T= (n.*1311T=) c.*1145T= (n.*1145T=) n.3968T= n.4236T= n.2565T= n.2627T= c.2249T= (p.Ile750=) c.2117T= (p.Ile706=) c.2234T= (p.Ile745=) c.2081T= (p.Ile694=) c.2207T= (p.Ile736=) c.*2239T= (n.*2239T=) c.2258T= (p.Ile753=) c.2231T= (p.Ile744=) c.2105T= (p.Ile702=) c.2273T= (p.Ile758=) c.2246T= (p.Ile749=) c.2225T= (p.Ile742=) c.2222T= (p.Ile741=) c.2183T= (p.Ile728=) c.2156T= (p.Ile719=) c.2150T= (p.Ile717=) c.2147T= (p.Ile716=) c.2141T= (p.Ile714=) c.2132T= (p.Ile711=) c.2129T= (p.Ile710=) c.2015T= (p.Ile672=) c.1922T= (p.Ile641=) n.515+2568A= n.722+2568A= c.2210T= (p.Ile737=) c.1907T= (p.Ile636=) c.2135T= (p.Ile712=) n.4623T= n.5279T= n.5739T= | |
7 | g.148807653A>C | CA369711740 | EZH2 | n.4149T>G c.*1311T>G (n.*1311T>G) c.*1145T>G (n.*1145T>G) n.3968T>G n.4236T>G n.2565T>G n.2627T>G c.2249T>G (p.Ile750Ser) c.2117T>G (p.Ile706Ser) c.2234T>G (p.Ile745Ser) c.2081T>G (p.Ile694Ser) c.2207T>G (p.Ile736Ser) c.*2239T>G (n.*2239T>G) c.2258T>G (p.Ile753Ser) c.2231T>G (p.Ile744Ser) c.2105T>G (p.Ile702Ser) c.2273T>G (p.Ile758Ser) c.2246T>G (p.Ile749Ser) c.2225T>G (p.Ile742Ser) c.2222T>G (p.Ile741Ser) c.2183T>G (p.Ile728Ser) c.2156T>G (p.Ile719Ser) c.2150T>G (p.Ile717Ser) c.2147T>G (p.Ile716Ser) c.2141T>G (p.Ile714Ser) c.2132T>G (p.Ile711Ser) c.2129T>G (p.Ile710Ser) c.2015T>G (p.Ile672Ser) c.1922T>G (p.Ile641Ser) n.515+2568A>C n.722+2568A>C c.2210T>G (p.Ile737Ser) c.1907T>G (p.Ile636Ser) c.2135T>G (p.Ile712Ser) n.4623T>G n.5279T>G n.5739T>G | dbSNP |
7 | g.148807653A>G | CA369711742 | EZH2 | n.4149T>C c.*1311T>C (n.*1311T>C) c.*1145T>C (n.*1145T>C) n.3968T>C n.4236T>C n.2565T>C n.2627T>C c.2249T>C (p.Ile750Thr) c.2117T>C (p.Ile706Thr) c.2234T>C (p.Ile745Thr) c.2081T>C (p.Ile694Thr) c.2207T>C (p.Ile736Thr) c.*2239T>C (n.*2239T>C) c.2258T>C (p.Ile753Thr) c.2231T>C (p.Ile744Thr) c.2105T>C (p.Ile702Thr) c.2273T>C (p.Ile758Thr) c.2246T>C (p.Ile749Thr) c.2225T>C (p.Ile742Thr) c.2222T>C (p.Ile741Thr) c.2183T>C (p.Ile728Thr) c.2156T>C (p.Ile719Thr) c.2150T>C (p.Ile717Thr) c.2147T>C (p.Ile716Thr) c.2141T>C (p.Ile714Thr) c.2132T>C (p.Ile711Thr) c.2129T>C (p.Ile710Thr) c.2015T>C (p.Ile672Thr) c.1922T>C (p.Ile641Thr) n.515+2568A>G n.722+2568A>G c.2210T>C (p.Ile737Thr) c.1907T>C (p.Ile636Thr) c.2135T>C (p.Ile712Thr) n.4623T>C n.5279T>C n.5739T>C | |
7 | g.148807653A>T | CA369711741 | EZH2 | n.4149T>A c.*1311T>A (n.*1311T>A) c.*1145T>A (n.*1145T>A) n.3968T>A n.4236T>A n.2565T>A n.2627T>A c.2249T>A (p.Ile750Asn) c.2117T>A (p.Ile706Asn) c.2234T>A (p.Ile745Asn) c.2081T>A (p.Ile694Asn) c.2207T>A (p.Ile736Asn) c.*2239T>A (n.*2239T>A) c.2258T>A (p.Ile753Asn) c.2231T>A (p.Ile744Asn) c.2105T>A (p.Ile702Asn) c.2273T>A (p.Ile758Asn) c.2246T>A (p.Ile749Asn) c.2225T>A (p.Ile742Asn) c.2222T>A (p.Ile741Asn) c.2183T>A (p.Ile728Asn) c.2156T>A (p.Ile719Asn) c.2150T>A (p.Ile717Asn) c.2147T>A (p.Ile716Asn) c.2141T>A (p.Ile714Asn) c.2132T>A (p.Ile711Asn) c.2129T>A (p.Ile710Asn) c.2015T>A (p.Ile672Asn) c.1922T>A (p.Ile641Asn) n.515+2568A>T n.722+2568A>T c.2210T>A (p.Ile737Asn) c.1907T>A (p.Ile636Asn) c.2135T>A (p.Ile712Asn) n.4623T>A n.5279T>A n.5739T>A | gnomAD v4 |
7 | g.148807653dup | CA2840108445 | EZH2 | n.4149dup c.*1311dup (n.*1311dup) c.*1145dup (n.*1145dup) n.3968dup n.4236dup n.2565dup n.2627dup c.2249dup (p.Ter752LeuextTer11) c.2117dup (p.Ter708LeuextTer11) c.2234dup (p.Ter747LeuextTer11) c.2081dup (p.Ter696LeuextTer11) c.2207dup (p.Ter738LeuextTer11) c.*2239dup (n.*2239dup) c.2258dup (p.Ter755LeuextTer11) c.2231dup (p.Ter746LeuextTer11) c.2105dup (p.Ter704LeuextTer11) c.2273dup (p.Ter760LeuextTer11) c.2246dup (p.Ter751LeuextTer11) c.2225dup (p.Ter744LeuextTer11) c.2222dup (p.Ter743LeuextTer11) c.2183dup (p.Ter730LeuextTer11) c.2156dup (p.Ter721LeuextTer11) c.2150dup (p.Ter719LeuextTer11) c.2147dup (p.Ter718LeuextTer11) c.2141dup (p.Ter716LeuextTer11) c.2132dup (p.Ter713LeuextTer11) c.2129dup (p.Ter712LeuextTer11) c.2015dup (p.Ter674LeuextTer11) c.1922dup (p.Ter643LeuextTer11) n.515+2568dup n.722+2568dup c.2210dup (p.Ter739LeuextTer11) c.1907dup (p.Ter638LeuextTer11) c.2135dup (p.Ter714LeuextTer11) n.4623dup n.5279dup n.5739dup | |
7 | g.148807654T>A | CA369711743 | EZH2 | n.4148A>T c.*1310A>T (n.*1310A>T) c.*1144A>T (n.*1144A>T) n.3967A>T n.4235A>T n.2564A>T n.2626A>T c.2248A>T (p.Ile750Phe) c.2116A>T (p.Ile706Phe) c.2233A>T (p.Ile745Phe) c.2080A>T (p.Ile694Phe) c.2206A>T (p.Ile736Phe) c.*2238A>T (n.*2238A>T) c.2257A>T (p.Ile753Phe) c.2230A>T (p.Ile744Phe) c.2104A>T (p.Ile702Phe) c.2272A>T (p.Ile758Phe) c.2245A>T (p.Ile749Phe) c.2224A>T (p.Ile742Phe) c.2221A>T (p.Ile741Phe) c.2182A>T (p.Ile728Phe) c.2155A>T (p.Ile719Phe) c.2149A>T (p.Ile717Phe) c.2146A>T (p.Ile716Phe) c.2140A>T (p.Ile714Phe) c.2131A>T (p.Ile711Phe) c.2128A>T (p.Ile710Phe) c.2014A>T (p.Ile672Phe) c.1921A>T (p.Ile641Phe) n.515+2569T>A n.722+2569T>A c.2209A>T (p.Ile737Phe) c.1906A>T (p.Ile636Phe) c.2134A>T (p.Ile712Phe) n.4622A>T n.5278A>T n.5738A>T | |
7 | g.148807654T>C | CA369711744 | EZH2 | n.4148A>G c.*1310A>G (n.*1310A>G) c.*1144A>G (n.*1144A>G) n.3967A>G n.4235A>G n.2564A>G n.2626A>G c.2248A>G (p.Ile750Val) c.2116A>G (p.Ile706Val) c.2233A>G (p.Ile745Val) c.2080A>G (p.Ile694Val) c.2206A>G (p.Ile736Val) c.*2238A>G (n.*2238A>G) c.2257A>G (p.Ile753Val) c.2230A>G (p.Ile744Val) c.2104A>G (p.Ile702Val) c.2272A>G (p.Ile758Val) c.2245A>G (p.Ile749Val) c.2224A>G (p.Ile742Val) c.2221A>G (p.Ile741Val) c.2182A>G (p.Ile728Val) c.2155A>G (p.Ile719Val) c.2149A>G (p.Ile717Val) c.2146A>G (p.Ile716Val) c.2140A>G (p.Ile714Val) c.2131A>G (p.Ile711Val) c.2128A>G (p.Ile710Val) c.2014A>G (p.Ile672Val) c.1921A>G (p.Ile641Val) n.515+2569T>C n.722+2569T>C c.2209A>G (p.Ile737Val) c.1906A>G (p.Ile636Val) c.2134A>G (p.Ile712Val) n.4622A>G n.5278A>G n.5738A>G | gnomAD v4 |
7 | g.148807654T>G | CA369711745 | EZH2 | n.4148A>C c.*1310A>C (n.*1310A>C) c.*1144A>C (n.*1144A>C) n.3967A>C n.4235A>C n.2564A>C n.2626A>C c.2248A>C (p.Ile750Leu) c.2116A>C (p.Ile706Leu) c.2233A>C (p.Ile745Leu) c.2080A>C (p.Ile694Leu) c.2206A>C (p.Ile736Leu) c.*2238A>C (n.*2238A>C) c.2257A>C (p.Ile753Leu) c.2230A>C (p.Ile744Leu) c.2104A>C (p.Ile702Leu) c.2272A>C (p.Ile758Leu) c.2245A>C (p.Ile749Leu) c.2224A>C (p.Ile742Leu) c.2221A>C (p.Ile741Leu) c.2182A>C (p.Ile728Leu) c.2155A>C (p.Ile719Leu) c.2149A>C (p.Ile717Leu) c.2146A>C (p.Ile716Leu) c.2140A>C (p.Ile714Leu) c.2131A>C (p.Ile711Leu) c.2128A>C (p.Ile710Leu) c.2014A>C (p.Ile672Leu) c.1921A>C (p.Ile641Leu) n.515+2569T>G n.722+2569T>G c.2209A>C (p.Ile737Leu) c.1906A>C (p.Ile636Leu) c.2134A>C (p.Ile712Leu) n.4622A>C n.5278A>C n.5738A>C | gnomAD v4 |
7 | g.148807655T>A | CA369711746 | EZH2 | n.4147A>T c.*1309A>T (n.*1309A>T) c.*1143A>T (n.*1143A>T) n.3966A>T n.4234A>T n.2563A>T n.2625A>T c.2247A>T (p.Glu749Asp) c.2115A>T (p.Glu705Asp) c.2232A>T (p.Glu744Asp) c.2079A>T (p.Glu693Asp) c.2205A>T (p.Glu735Asp) c.*2237A>T (n.*2237A>T) c.2256A>T (p.Glu752Asp) c.2229A>T (p.Glu743Asp) c.2103A>T (p.Glu701Asp) c.2271A>T (p.Glu757Asp) c.2244A>T (p.Glu748Asp) c.2223A>T (p.Glu741Asp) c.2220A>T (p.Glu740Asp) c.2181A>T (p.Glu727Asp) c.2154A>T (p.Glu718Asp) c.2148A>T (p.Glu716Asp) c.2145A>T (p.Glu715Asp) c.2139A>T (p.Glu713Asp) c.2130A>T (p.Glu710Asp) c.2127A>T (p.Glu709Asp) c.2013A>T (p.Glu671Asp) c.1920A>T (p.Glu640Asp) n.515+2570T>A n.722+2570T>A c.2208A>T (p.Glu736Asp) c.1905A>T (p.Glu635Asp) c.2133A>T (p.Glu711Asp) n.4621A>T n.5277A>T n.5737A>T | |
7 | g.148807655T>C | CA458345614 | EZH2 | n.4147A>G c.*1309A>G (n.*1309A>G) c.*1143A>G (n.*1143A>G) n.3966A>G n.4234A>G n.2563A>G n.2625A>G c.2247A>G (p.Glu749=) c.2115A>G (p.Glu705=) c.2232A>G (p.Glu744=) c.2079A>G (p.Glu693=) c.2205A>G (p.Glu735=) c.*2237A>G (n.*2237A>G) c.2256A>G (p.Glu752=) c.2229A>G (p.Glu743=) c.2103A>G (p.Glu701=) c.2271A>G (p.Glu757=) c.2244A>G (p.Glu748=) c.2223A>G (p.Glu741=) c.2220A>G (p.Glu740=) c.2181A>G (p.Glu727=) c.2154A>G (p.Glu718=) c.2148A>G (p.Glu716=) c.2145A>G (p.Glu715=) c.2139A>G (p.Glu713=) c.2130A>G (p.Glu710=) c.2127A>G (p.Glu709=) c.2013A>G (p.Glu671=) c.1920A>G (p.Glu640=) n.515+2570T>C n.722+2570T>C c.2208A>G (p.Glu736=) c.1905A>G (p.Glu635=) c.2133A>G (p.Glu711=) n.4621A>G n.5277A>G n.5737A>G | |
7 | g.148807655T>G | CA369711747 | EZH2 | n.4147A>C c.*1309A>C (n.*1309A>C) c.*1143A>C (n.*1143A>C) n.3966A>C n.4234A>C n.2563A>C n.2625A>C c.2247A>C (p.Glu749Asp) c.2115A>C (p.Glu705Asp) c.2232A>C (p.Glu744Asp) c.2079A>C (p.Glu693Asp) c.2205A>C (p.Glu735Asp) c.*2237A>C (n.*2237A>C) c.2256A>C (p.Glu752Asp) c.2229A>C (p.Glu743Asp) c.2103A>C (p.Glu701Asp) c.2271A>C (p.Glu757Asp) c.2244A>C (p.Glu748Asp) c.2223A>C (p.Glu741Asp) c.2220A>C (p.Glu740Asp) c.2181A>C (p.Glu727Asp) c.2154A>C (p.Glu718Asp) c.2148A>C (p.Glu716Asp) c.2145A>C (p.Glu715Asp) c.2139A>C (p.Glu713Asp) c.2130A>C (p.Glu710Asp) c.2127A>C (p.Glu709Asp) c.2013A>C (p.Glu671Asp) c.1920A>C (p.Glu640Asp) n.515+2570T>G n.722+2570T>G c.2208A>C (p.Glu736Asp) c.1905A>C (p.Glu635Asp) c.2133A>C (p.Glu711Asp) n.4621A>C n.5277A>C n.5737A>C | |
7 | g.148807656T>A | CA369711748 | EZH2 | n.4146A>T c.*1308A>T (n.*1308A>T) c.*1142A>T (n.*1142A>T) n.3965A>T n.4233A>T n.2562A>T n.2624A>T c.2246A>T (p.Glu749Val) c.2114A>T (p.Glu705Val) c.2231A>T (p.Glu744Val) c.2078A>T (p.Glu693Val) c.2204A>T (p.Glu735Val) c.*2236A>T (n.*2236A>T) c.2255A>T (p.Glu752Val) c.2228A>T (p.Glu743Val) c.2102A>T (p.Glu701Val) c.2270A>T (p.Glu757Val) c.2243A>T (p.Glu748Val) c.2222A>T (p.Glu741Val) c.2219A>T (p.Glu740Val) c.2180A>T (p.Glu727Val) c.2153A>T (p.Glu718Val) c.2147A>T (p.Glu716Val) c.2144A>T (p.Glu715Val) c.2138A>T (p.Glu713Val) c.2129A>T (p.Glu710Val) c.2126A>T (p.Glu709Val) c.2012A>T (p.Glu671Val) c.1919A>T (p.Glu640Val) n.515+2571T>A n.722+2571T>A c.2207A>T (p.Glu736Val) c.1904A>T (p.Glu635Val) c.2132A>T (p.Glu711Val) n.4620A>T n.5276A>T n.5736A>T | |
7 | g.148807656T>C | CA369711749 | EZH2 | n.4146A>G c.*1308A>G (n.*1308A>G) c.*1142A>G (n.*1142A>G) n.3965A>G n.4233A>G n.2562A>G n.2624A>G c.2246A>G (p.Glu749Gly) c.2114A>G (p.Glu705Gly) c.2231A>G (p.Glu744Gly) c.2078A>G (p.Glu693Gly) c.2204A>G (p.Glu735Gly) c.*2236A>G (n.*2236A>G) c.2255A>G (p.Glu752Gly) c.2228A>G (p.Glu743Gly) c.2102A>G (p.Glu701Gly) c.2270A>G (p.Glu757Gly) c.2243A>G (p.Glu748Gly) c.2222A>G (p.Glu741Gly) c.2219A>G (p.Glu740Gly) c.2180A>G (p.Glu727Gly) c.2153A>G (p.Glu718Gly) c.2147A>G (p.Glu716Gly) c.2144A>G (p.Glu715Gly) c.2138A>G (p.Glu713Gly) c.2129A>G (p.Glu710Gly) c.2126A>G (p.Glu709Gly) c.2012A>G (p.Glu671Gly) c.1919A>G (p.Glu640Gly) n.515+2571T>C n.722+2571T>C c.2207A>G (p.Glu736Gly) c.1904A>G (p.Glu635Gly) c.2132A>G (p.Glu711Gly) n.4620A>G n.5276A>G n.5736A>G | |
7 | g.148807656T>G | CA369711750 | EZH2 | n.4146A>C c.*1308A>C (n.*1308A>C) c.*1142A>C (n.*1142A>C) n.3965A>C n.4233A>C n.2562A>C n.2624A>C c.2246A>C (p.Glu749Ala) c.2114A>C (p.Glu705Ala) c.2231A>C (p.Glu744Ala) c.2078A>C (p.Glu693Ala) c.2204A>C (p.Glu735Ala) c.*2236A>C (n.*2236A>C) c.2255A>C (p.Glu752Ala) c.2228A>C (p.Glu743Ala) c.2102A>C (p.Glu701Ala) c.2270A>C (p.Glu757Ala) c.2243A>C (p.Glu748Ala) c.2222A>C (p.Glu741Ala) c.2219A>C (p.Glu740Ala) c.2180A>C (p.Glu727Ala) c.2153A>C (p.Glu718Ala) c.2147A>C (p.Glu716Ala) c.2144A>C (p.Glu715Ala) c.2138A>C (p.Glu713Ala) c.2129A>C (p.Glu710Ala) c.2126A>C (p.Glu709Ala) c.2012A>C (p.Glu671Ala) c.1919A>C (p.Glu640Ala) n.515+2571T>G n.722+2571T>G c.2207A>C (p.Glu736Ala) c.1904A>C (p.Glu635Ala) c.2132A>C (p.Glu711Ala) n.4620A>C n.5276A>C n.5736A>C | |
7 | g.148807657C>A | CA369711751 | EZH2 | n.4145G>T c.*1307G>T (n.*1307G>T) c.*1141G>T (n.*1141G>T) n.3964G>T n.4232G>T n.2561G>T n.2623G>T c.2245G>T (p.Glu749Ter) c.2113G>T (p.Glu705Ter) c.2230G>T (p.Glu744Ter) c.2077G>T (p.Glu693Ter) c.2203G>T (p.Glu735Ter) c.*2235G>T (n.*2235G>T) c.2254G>T (p.Glu752Ter) c.2227G>T (p.Glu743Ter) c.2101G>T (p.Glu701Ter) c.2269G>T (p.Glu757Ter) c.2242G>T (p.Glu748Ter) c.2221G>T (p.Glu741Ter) c.2218G>T (p.Glu740Ter) c.2179G>T (p.Glu727Ter) c.2152G>T (p.Glu718Ter) c.2146G>T (p.Glu716Ter) c.2143G>T (p.Glu715Ter) c.2137G>T (p.Glu713Ter) c.2128G>T (p.Glu710Ter) c.2125G>T (p.Glu709Ter) c.2011G>T (p.Glu671Ter) c.1918G>T (p.Glu640Ter) n.515+2572C>A n.722+2572C>A c.2206G>T (p.Glu736Ter) c.1903G>T (p.Glu635Ter) c.2131G>T (p.Glu711Ter) n.4619G>T n.5275G>T n.5735G>T | gnomAD v4 |
7 | g.148807657C>G | CA369711752 | EZH2 | n.4145G>C c.*1307G>C (n.*1307G>C) c.*1141G>C (n.*1141G>C) n.3964G>C n.4232G>C n.2561G>C n.2623G>C c.2245G>C (p.Glu749Gln) c.2113G>C (p.Glu705Gln) c.2230G>C (p.Glu744Gln) c.2077G>C (p.Glu693Gln) c.2203G>C (p.Glu735Gln) c.*2235G>C (n.*2235G>C) c.2254G>C (p.Glu752Gln) c.2227G>C (p.Glu743Gln) c.2101G>C (p.Glu701Gln) c.2269G>C (p.Glu757Gln) c.2242G>C (p.Glu748Gln) c.2221G>C (p.Glu741Gln) c.2218G>C (p.Glu740Gln) c.2179G>C (p.Glu727Gln) c.2152G>C (p.Glu718Gln) c.2146G>C (p.Glu716Gln) c.2143G>C (p.Glu715Gln) c.2137G>C (p.Glu713Gln) c.2128G>C (p.Glu710Gln) c.2125G>C (p.Glu709Gln) c.2011G>C (p.Glu671Gln) c.1918G>C (p.Glu640Gln) n.515+2572C>G n.722+2572C>G c.2206G>C (p.Glu736Gln) c.1903G>C (p.Glu635Gln) c.2131G>C (p.Glu711Gln) n.4619G>C n.5275G>C n.5735G>C | |
7 | g.148807657C>T | CA369711753 | EZH2 | n.4145G>A c.*1307G>A (n.*1307G>A) c.*1141G>A (n.*1141G>A) n.3964G>A n.4232G>A n.2561G>A n.2623G>A c.2245G>A (p.Glu749Lys) c.2113G>A (p.Glu705Lys) c.2230G>A (p.Glu744Lys) c.2077G>A (p.Glu693Lys) c.2203G>A (p.Glu735Lys) c.*2235G>A (n.*2235G>A) c.2254G>A (p.Glu752Lys) c.2227G>A (p.Glu743Lys) c.2101G>A (p.Glu701Lys) c.2269G>A (p.Glu757Lys) c.2242G>A (p.Glu748Lys) c.2221G>A (p.Glu741Lys) c.2218G>A (p.Glu740Lys) c.2179G>A (p.Glu727Lys) c.2152G>A (p.Glu718Lys) c.2146G>A (p.Glu716Lys) c.2143G>A (p.Glu715Lys) c.2137G>A (p.Glu713Lys) c.2128G>A (p.Glu710Lys) c.2125G>A (p.Glu709Lys) c.2011G>A (p.Glu671Lys) c.1918G>A (p.Glu640Lys) n.515+2572C>T n.722+2572C>T c.2206G>A (p.Glu736Lys) c.1903G>A (p.Glu635Lys) c.2131G>A (p.Glu711Lys) n.4619G>A n.5275G>A n.5735G>A | gnomAD v4 |
7 | g.148807658C>A | CA369711756 | EZH2 | n.4144G>T c.*1306G>T (n.*1306G>T) c.*1140G>T (n.*1140G>T) n.3963G>T n.4231G>T n.2560G>T n.2622G>T c.2244G>T (p.Met748Ile) c.2112G>T (p.Met704Ile) c.2229G>T (p.Met743Ile) c.2076G>T (p.Met692Ile) c.2202G>T (p.Met734Ile) c.*2234G>T (n.*2234G>T) c.2253G>T (p.Met751Ile) c.2226G>T (p.Met742Ile) c.2100G>T (p.Met700Ile) c.2268G>T (p.Met756Ile) c.2241G>T (p.Met747Ile) c.2220G>T (p.Met740Ile) c.2217G>T (p.Met739Ile) c.2178G>T (p.Met726Ile) c.2151G>T (p.Met717Ile) c.2145G>T (p.Met715Ile) c.2142G>T (p.Met714Ile) c.2136G>T (p.Met712Ile) c.2127G>T (p.Met709Ile) c.2124G>T (p.Met708Ile) c.2010G>T (p.Met670Ile) c.1917G>T (p.Met639Ile) n.515+2573C>A n.722+2573C>A c.2205G>T (p.Met735Ile) c.1902G>T (p.Met634Ile) c.2130G>T (p.Met710Ile) n.4618G>T n.5274G>T n.5734G>T | gnomAD v4 |
7 | g.148807658C>G | CA369711754 | EZH2 | n.4144G>C c.*1306G>C (n.*1306G>C) c.*1140G>C (n.*1140G>C) n.3963G>C n.4231G>C n.2560G>C n.2622G>C c.2244G>C (p.Met748Ile) c.2112G>C (p.Met704Ile) c.2229G>C (p.Met743Ile) c.2076G>C (p.Met692Ile) c.2202G>C (p.Met734Ile) c.*2234G>C (n.*2234G>C) c.2253G>C (p.Met751Ile) c.2226G>C (p.Met742Ile) c.2100G>C (p.Met700Ile) c.2268G>C (p.Met756Ile) c.2241G>C (p.Met747Ile) c.2220G>C (p.Met740Ile) c.2217G>C (p.Met739Ile) c.2178G>C (p.Met726Ile) c.2151G>C (p.Met717Ile) c.2145G>C (p.Met715Ile) c.2142G>C (p.Met714Ile) c.2136G>C (p.Met712Ile) c.2127G>C (p.Met709Ile) c.2124G>C (p.Met708Ile) c.2010G>C (p.Met670Ile) c.1917G>C (p.Met639Ile) n.515+2573C>G n.722+2573C>G c.2205G>C (p.Met735Ile) c.1902G>C (p.Met634Ile) c.2130G>C (p.Met710Ile) n.4618G>C n.5274G>C n.5734G>C | |
7 | g.148807658C>T | CA369711755 | EZH2 | n.4144G>A c.*1306G>A (n.*1306G>A) c.*1140G>A (n.*1140G>A) n.3963G>A n.4231G>A n.2560G>A n.2622G>A c.2244G>A (p.Met748Ile) c.2112G>A (p.Met704Ile) c.2229G>A (p.Met743Ile) c.2076G>A (p.Met692Ile) c.2202G>A (p.Met734Ile) c.*2234G>A (n.*2234G>A) c.2253G>A (p.Met751Ile) c.2226G>A (p.Met742Ile) c.2100G>A (p.Met700Ile) c.2268G>A (p.Met756Ile) c.2241G>A (p.Met747Ile) c.2220G>A (p.Met740Ile) c.2217G>A (p.Met739Ile) c.2178G>A (p.Met726Ile) c.2151G>A (p.Met717Ile) c.2145G>A (p.Met715Ile) c.2142G>A (p.Met714Ile) c.2136G>A (p.Met712Ile) c.2127G>A (p.Met709Ile) c.2124G>A (p.Met708Ile) c.2010G>A (p.Met670Ile) c.1917G>A (p.Met639Ile) n.515+2573C>T n.722+2573C>T c.2205G>A (p.Met735Ile) c.1902G>A (p.Met634Ile) c.2130G>A (p.Met710Ile) n.4618G>A n.5274G>A n.5734G>A | gnomAD v4 |
7 | g.148807659A= | CA1751419274 | EZH2 | n.4143T= c.*1305T= (n.*1305T=) c.*1139T= (n.*1139T=) n.3962T= n.4230T= n.2559T= n.2621T= c.2243T= (p.Met748=) c.2111T= (p.Met704=) c.2228T= (p.Met743=) c.2075T= (p.Met692=) c.2201T= (p.Met734=) c.*2233T= (n.*2233T=) c.2252T= (p.Met751=) c.2225T= (p.Met742=) c.2099T= (p.Met700=) c.2267T= (p.Met756=) c.2240T= (p.Met747=) c.2219T= (p.Met740=) c.2216T= (p.Met739=) c.2177T= (p.Met726=) c.2150T= (p.Met717=) c.2144T= (p.Met715=) c.2141T= (p.Met714=) c.2135T= (p.Met712=) c.2126T= (p.Met709=) c.2123T= (p.Met708=) c.2009T= (p.Met670=) c.1916T= (p.Met639=) n.515+2574A= n.722+2574A= c.2204T= (p.Met735=) c.1901T= (p.Met634=) c.2129T= (p.Met710=) n.4617T= n.5273T= n.5733T= | |
7 | g.148807659A>C | CA369711757 | EZH2 | n.4143T>G c.*1305T>G (n.*1305T>G) c.*1139T>G (n.*1139T>G) n.3962T>G n.4230T>G n.2559T>G n.2621T>G c.2243T>G (p.Met748Arg) c.2111T>G (p.Met704Arg) c.2228T>G (p.Met743Arg) c.2075T>G (p.Met692Arg) c.2201T>G (p.Met734Arg) c.*2233T>G (n.*2233T>G) c.2252T>G (p.Met751Arg) c.2225T>G (p.Met742Arg) c.2099T>G (p.Met700Arg) c.2267T>G (p.Met756Arg) c.2240T>G (p.Met747Arg) c.2219T>G (p.Met740Arg) c.2216T>G (p.Met739Arg) c.2177T>G (p.Met726Arg) c.2150T>G (p.Met717Arg) c.2144T>G (p.Met715Arg) c.2141T>G (p.Met714Arg) c.2135T>G (p.Met712Arg) c.2126T>G (p.Met709Arg) c.2123T>G (p.Met708Arg) c.2009T>G (p.Met670Arg) c.1916T>G (p.Met639Arg) n.515+2574A>C n.722+2574A>C c.2204T>G (p.Met735Arg) c.1901T>G (p.Met634Arg) c.2129T>G (p.Met710Arg) n.4617T>G n.5273T>G n.5733T>G | |
7 | g.148807659A>G | CA369711758 | EZH2 | n.4143T>C c.*1305T>C (n.*1305T>C) c.*1139T>C (n.*1139T>C) n.3962T>C n.4230T>C n.2559T>C n.2621T>C c.2243T>C (p.Met748Thr) c.2111T>C (p.Met704Thr) c.2228T>C (p.Met743Thr) c.2075T>C (p.Met692Thr) c.2201T>C (p.Met734Thr) c.*2233T>C (n.*2233T>C) c.2252T>C (p.Met751Thr) c.2225T>C (p.Met742Thr) c.2099T>C (p.Met700Thr) c.2267T>C (p.Met756Thr) c.2240T>C (p.Met747Thr) c.2219T>C (p.Met740Thr) c.2216T>C (p.Met739Thr) c.2177T>C (p.Met726Thr) c.2150T>C (p.Met717Thr) c.2144T>C (p.Met715Thr) c.2141T>C (p.Met714Thr) c.2135T>C (p.Met712Thr) c.2126T>C (p.Met709Thr) c.2123T>C (p.Met708Thr) c.2009T>C (p.Met670Thr) c.1916T>C (p.Met639Thr) n.515+2574A>G n.722+2574A>G c.2204T>C (p.Met735Thr) c.1901T>C (p.Met634Thr) c.2129T>C (p.Met710Thr) n.4617T>C n.5273T>C n.5733T>C | dbSNP gnomAD v4 |
7 | g.148807659A>T | CA369711759 | EZH2 | n.4143T>A c.*1305T>A (n.*1305T>A) c.*1139T>A (n.*1139T>A) n.3962T>A n.4230T>A n.2559T>A n.2621T>A c.2243T>A (p.Met748Lys) c.2111T>A (p.Met704Lys) c.2228T>A (p.Met743Lys) c.2075T>A (p.Met692Lys) c.2201T>A (p.Met734Lys) c.*2233T>A (n.*2233T>A) c.2252T>A (p.Met751Lys) c.2225T>A (p.Met742Lys) c.2099T>A (p.Met700Lys) c.2267T>A (p.Met756Lys) c.2240T>A (p.Met747Lys) c.2219T>A (p.Met740Lys) c.2216T>A (p.Met739Lys) c.2177T>A (p.Met726Lys) c.2150T>A (p.Met717Lys) c.2144T>A (p.Met715Lys) c.2141T>A (p.Met714Lys) c.2135T>A (p.Met712Lys) c.2126T>A (p.Met709Lys) c.2123T>A (p.Met708Lys) c.2009T>A (p.Met670Lys) c.1916T>A (p.Met639Lys) n.515+2574A>T n.722+2574A>T c.2204T>A (p.Met735Lys) c.1901T>A (p.Met634Lys) c.2129T>A (p.Met710Lys) n.4617T>A n.5273T>A n.5733T>A | gnomAD v4 |
7 | g.148807660T>A | CA369711760 | EZH2 | n.4142A>T c.*1304A>T (n.*1304A>T) c.*1138A>T (n.*1138A>T) n.3961A>T n.4229A>T n.2558A>T n.2620A>T c.2242A>T (p.Met748Leu) c.2110A>T (p.Met704Leu) c.2227A>T (p.Met743Leu) c.2074A>T (p.Met692Leu) c.2200A>T (p.Met734Leu) c.*2232A>T (n.*2232A>T) c.2251A>T (p.Met751Leu) c.2224A>T (p.Met742Leu) c.2098A>T (p.Met700Leu) c.2266A>T (p.Met756Leu) c.2239A>T (p.Met747Leu) c.2218A>T (p.Met740Leu) c.2215A>T (p.Met739Leu) c.2176A>T (p.Met726Leu) c.2149A>T (p.Met717Leu) c.2143A>T (p.Met715Leu) c.2140A>T (p.Met714Leu) c.2134A>T (p.Met712Leu) c.2125A>T (p.Met709Leu) c.2122A>T (p.Met708Leu) c.2008A>T (p.Met670Leu) c.1915A>T (p.Met639Leu) n.515+2575T>A n.722+2575T>A c.2203A>T (p.Met735Leu) c.1900A>T (p.Met634Leu) c.2128A>T (p.Met710Leu) n.4616A>T n.5272A>T n.5732A>T | |
7 | g.148807660T>C | CA369711761 | EZH2 | n.4142A>G c.*1304A>G (n.*1304A>G) c.*1138A>G (n.*1138A>G) n.3961A>G n.4229A>G n.2558A>G n.2620A>G c.2242A>G (p.Met748Val) c.2110A>G (p.Met704Val) c.2227A>G (p.Met743Val) c.2074A>G (p.Met692Val) c.2200A>G (p.Met734Val) c.*2232A>G (n.*2232A>G) c.2251A>G (p.Met751Val) c.2224A>G (p.Met742Val) c.2098A>G (p.Met700Val) c.2266A>G (p.Met756Val) c.2239A>G (p.Met747Val) c.2218A>G (p.Met740Val) c.2215A>G (p.Met739Val) c.2176A>G (p.Met726Val) c.2149A>G (p.Met717Val) c.2143A>G (p.Met715Val) c.2140A>G (p.Met714Val) c.2134A>G (p.Met712Val) c.2125A>G (p.Met709Val) c.2122A>G (p.Met708Val) c.2008A>G (p.Met670Val) c.1915A>G (p.Met639Val) n.515+2575T>C n.722+2575T>C c.2203A>G (p.Met735Val) c.1900A>G (p.Met634Val) c.2128A>G (p.Met710Val) n.4616A>G n.5272A>G n.5732A>G | |
7 | g.148807660T>G | CA369711762 | EZH2 | n.4142A>C c.*1304A>C (n.*1304A>C) c.*1138A>C (n.*1138A>C) n.3961A>C n.4229A>C n.2558A>C n.2620A>C c.2242A>C (p.Met748Leu) c.2110A>C (p.Met704Leu) c.2227A>C (p.Met743Leu) c.2074A>C (p.Met692Leu) c.2200A>C (p.Met734Leu) c.*2232A>C (n.*2232A>C) c.2251A>C (p.Met751Leu) c.2224A>C (p.Met742Leu) c.2098A>C (p.Met700Leu) c.2266A>C (p.Met756Leu) c.2239A>C (p.Met747Leu) c.2218A>C (p.Met740Leu) c.2215A>C (p.Met739Leu) c.2176A>C (p.Met726Leu) c.2149A>C (p.Met717Leu) c.2143A>C (p.Met715Leu) c.2140A>C (p.Met714Leu) c.2134A>C (p.Met712Leu) c.2125A>C (p.Met709Leu) c.2122A>C (p.Met708Leu) c.2008A>C (p.Met670Leu) c.1915A>C (p.Met639Leu) n.515+2575T>G n.722+2575T>G c.2203A>C (p.Met735Leu) c.1900A>C (p.Met634Leu) c.2128A>C (p.Met710Leu) n.4616A>C n.5272A>C n.5732A>C | |
7 | g.148807662del | CA2685464160 | EZH2 | n.4142del c.*1304del (n.*1304del) c.*1138del (n.*1138del) n.3961del n.4229del n.2558del n.2620del c.2242del (p.Met748TrpfsTer19) c.2110del (p.Met704TrpfsTer19) c.2227del (p.Met743TrpfsTer19) c.2074del (p.Met692TrpfsTer19) c.2200del (p.Met734TrpfsTer19) c.*2232del (n.*2232del) c.2251del (p.Met751TrpfsTer19) c.2224del (p.Met742TrpfsTer19) c.2098del (p.Met700TrpfsTer19) c.2266del (p.Met756TrpfsTer19) c.2239del (p.Met747TrpfsTer19) c.2218del (p.Met740TrpfsTer19) c.2215del (p.Met739TrpfsTer19) c.2176del (p.Met726TrpfsTer19) c.2149del (p.Met717TrpfsTer19) c.2143del (p.Met715TrpfsTer19) c.2140del (p.Met714TrpfsTer19) c.2134del (p.Met712TrpfsTer19) c.2125del (p.Met709TrpfsTer19) c.2122del (p.Met708TrpfsTer19) c.2008del (p.Met670TrpfsTer19) c.1915del (p.Met639TrpfsTer19) n.515+2577del n.722+2577del c.2203del (p.Met735TrpfsTer19) c.1900del (p.Met634TrpfsTer19) c.2128del (p.Met710TrpfsTer19) n.4616del n.5272del n.5732del | gnomAD v4 |
7 | g.148807661T>A | CA369711763 | EZH2 | n.4141A>T c.*1303A>T (n.*1303A>T) c.*1137A>T (n.*1137A>T) n.3960A>T n.4228A>T n.2557A>T n.2619A>T c.2241A>T (p.Glu747Asp) c.2109A>T (p.Glu703Asp) c.2226A>T (p.Glu742Asp) c.2073A>T (p.Glu691Asp) c.2199A>T (p.Glu733Asp) c.*2231A>T (n.*2231A>T) c.2250A>T (p.Glu750Asp) c.2223A>T (p.Glu741Asp) c.2097A>T (p.Glu699Asp) c.2265A>T (p.Glu755Asp) c.2238A>T (p.Glu746Asp) c.2217A>T (p.Glu739Asp) c.2214A>T (p.Glu738Asp) c.2175A>T (p.Glu725Asp) c.2148A>T (p.Glu716Asp) c.2142A>T (p.Glu714Asp) c.2139A>T (p.Glu713Asp) c.2133A>T (p.Glu711Asp) c.2124A>T (p.Glu708Asp) c.2121A>T (p.Glu707Asp) c.2007A>T (p.Glu669Asp) c.1914A>T (p.Glu638Asp) n.515+2576T>A n.722+2576T>A c.2202A>T (p.Glu734Asp) c.1899A>T (p.Glu633Asp) c.2127A>T (p.Glu709Asp) n.4615A>T n.5271A>T n.5731A>T | |
7 | g.148807661T>C | CA458345616 | EZH2 | n.4141A>G c.*1303A>G (n.*1303A>G) c.*1137A>G (n.*1137A>G) n.3960A>G n.4228A>G n.2557A>G n.2619A>G c.2241A>G (p.Glu747=) c.2109A>G (p.Glu703=) c.2226A>G (p.Glu742=) c.2073A>G (p.Glu691=) c.2199A>G (p.Glu733=) c.*2231A>G (n.*2231A>G) c.2250A>G (p.Glu750=) c.2223A>G (p.Glu741=) c.2097A>G (p.Glu699=) c.2265A>G (p.Glu755=) c.2238A>G (p.Glu746=) c.2217A>G (p.Glu739=) c.2214A>G (p.Glu738=) c.2175A>G (p.Glu725=) c.2148A>G (p.Glu716=) c.2142A>G (p.Glu714=) c.2139A>G (p.Glu713=) c.2133A>G (p.Glu711=) c.2124A>G (p.Glu708=) c.2121A>G (p.Glu707=) c.2007A>G (p.Glu669=) c.1914A>G (p.Glu638=) n.515+2576T>C n.722+2576T>C c.2202A>G (p.Glu734=) c.1899A>G (p.Glu633=) c.2127A>G (p.Glu709=) n.4615A>G n.5271A>G n.5731A>G | |
7 | g.148807661T>G | CA369711764 | EZH2 | n.4141A>C c.*1303A>C (n.*1303A>C) c.*1137A>C (n.*1137A>C) n.3960A>C n.4228A>C n.2557A>C n.2619A>C c.2241A>C (p.Glu747Asp) c.2109A>C (p.Glu703Asp) c.2226A>C (p.Glu742Asp) c.2073A>C (p.Glu691Asp) c.2199A>C (p.Glu733Asp) c.*2231A>C (n.*2231A>C) c.2250A>C (p.Glu750Asp) c.2223A>C (p.Glu741Asp) c.2097A>C (p.Glu699Asp) c.2265A>C (p.Glu755Asp) c.2238A>C (p.Glu746Asp) c.2217A>C (p.Glu739Asp) c.2214A>C (p.Glu738Asp) c.2175A>C (p.Glu725Asp) c.2148A>C (p.Glu716Asp) c.2142A>C (p.Glu714Asp) c.2139A>C (p.Glu713Asp) c.2133A>C (p.Glu711Asp) c.2124A>C (p.Glu708Asp) c.2121A>C (p.Glu707Asp) c.2007A>C (p.Glu669Asp) c.1914A>C (p.Glu638Asp) n.515+2576T>G n.722+2576T>G c.2202A>C (p.Glu734Asp) c.1899A>C (p.Glu633Asp) c.2127A>C (p.Glu709Asp) n.4615A>C n.5271A>C n.5731A>C | |
7 | g.148807662T>A | CA369711765 | EZH2 | n.4140A>T c.*1302A>T (n.*1302A>T) c.*1136A>T (n.*1136A>T) n.3959A>T n.4227A>T n.2556A>T n.2618A>T c.2240A>T (p.Glu747Val) c.2108A>T (p.Glu703Val) c.2225A>T (p.Glu742Val) c.2072A>T (p.Glu691Val) c.2198A>T (p.Glu733Val) c.*2230A>T (n.*2230A>T) c.2249A>T (p.Glu750Val) c.2222A>T (p.Glu741Val) c.2096A>T (p.Glu699Val) c.2264A>T (p.Glu755Val) c.2237A>T (p.Glu746Val) c.2216A>T (p.Glu739Val) c.2213A>T (p.Glu738Val) c.2174A>T (p.Glu725Val) c.2147A>T (p.Glu716Val) c.2141A>T (p.Glu714Val) c.2138A>T (p.Glu713Val) c.2132A>T (p.Glu711Val) c.2123A>T (p.Glu708Val) c.2120A>T (p.Glu707Val) c.2006A>T (p.Glu669Val) c.1913A>T (p.Glu638Val) n.515+2577T>A n.722+2577T>A c.2201A>T (p.Glu734Val) c.1898A>T (p.Glu633Val) c.2126A>T (p.Glu709Val) n.4614A>T n.5270A>T n.5730A>T | gnomAD v4 |
7 | g.148807662T>C | CA369711766 | EZH2 | n.4140A>G c.*1302A>G (n.*1302A>G) c.*1136A>G (n.*1136A>G) n.3959A>G n.4227A>G n.2556A>G n.2618A>G c.2240A>G (p.Glu747Gly) c.2108A>G (p.Glu703Gly) c.2225A>G (p.Glu742Gly) c.2072A>G (p.Glu691Gly) c.2198A>G (p.Glu733Gly) c.*2230A>G (n.*2230A>G) c.2249A>G (p.Glu750Gly) c.2222A>G (p.Glu741Gly) c.2096A>G (p.Glu699Gly) c.2264A>G (p.Glu755Gly) c.2237A>G (p.Glu746Gly) c.2216A>G (p.Glu739Gly) c.2213A>G (p.Glu738Gly) c.2174A>G (p.Glu725Gly) c.2147A>G (p.Glu716Gly) c.2141A>G (p.Glu714Gly) c.2138A>G (p.Glu713Gly) c.2132A>G (p.Glu711Gly) c.2123A>G (p.Glu708Gly) c.2120A>G (p.Glu707Gly) c.2006A>G (p.Glu669Gly) c.1913A>G (p.Glu638Gly) n.515+2577T>C n.722+2577T>C c.2201A>G (p.Glu734Gly) c.1898A>G (p.Glu633Gly) c.2126A>G (p.Glu709Gly) n.4614A>G n.5270A>G n.5730A>G | |
7 | g.148807662T>G | CA369711767 | EZH2 | n.4140A>C c.*1302A>C (n.*1302A>C) c.*1136A>C (n.*1136A>C) n.3959A>C n.4227A>C n.2556A>C n.2618A>C c.2240A>C (p.Glu747Ala) c.2108A>C (p.Glu703Ala) c.2225A>C (p.Glu742Ala) c.2072A>C (p.Glu691Ala) c.2198A>C (p.Glu733Ala) c.*2230A>C (n.*2230A>C) c.2249A>C (p.Glu750Ala) c.2222A>C (p.Glu741Ala) c.2096A>C (p.Glu699Ala) c.2264A>C (p.Glu755Ala) c.2237A>C (p.Glu746Ala) c.2216A>C (p.Glu739Ala) c.2213A>C (p.Glu738Ala) c.2174A>C (p.Glu725Ala) c.2147A>C (p.Glu716Ala) c.2141A>C (p.Glu714Ala) c.2138A>C (p.Glu713Ala) c.2132A>C (p.Glu711Ala) c.2123A>C (p.Glu708Ala) c.2120A>C (p.Glu707Ala) c.2006A>C (p.Glu669Ala) c.1913A>C (p.Glu638Ala) n.515+2577T>G n.722+2577T>G c.2201A>C (p.Glu734Ala) c.1898A>C (p.Glu633Ala) c.2126A>C (p.Glu709Ala) n.4614A>C n.5270A>C n.5730A>C | |
7 | g.148807663C>A | CA369711769 | EZH2 | n.4139G>T c.*1301G>T (n.*1301G>T) c.*1135G>T (n.*1135G>T) n.3958G>T n.4226G>T n.2555G>T n.2617G>T c.2239G>T (p.Glu747Ter) c.2107G>T (p.Glu703Ter) c.2224G>T (p.Glu742Ter) c.2071G>T (p.Glu691Ter) c.2197G>T (p.Glu733Ter) c.*2229G>T (n.*2229G>T) c.2248G>T (p.Glu750Ter) c.2221G>T (p.Glu741Ter) c.2095G>T (p.Glu699Ter) c.2263G>T (p.Glu755Ter) c.2236G>T (p.Glu746Ter) c.2215G>T (p.Glu739Ter) c.2212G>T (p.Glu738Ter) c.2173G>T (p.Glu725Ter) c.2146G>T (p.Glu716Ter) c.2140G>T (p.Glu714Ter) c.2137G>T (p.Glu713Ter) c.2131G>T (p.Glu711Ter) c.2122G>T (p.Glu708Ter) c.2119G>T (p.Glu707Ter) c.2005G>T (p.Glu669Ter) c.1912G>T (p.Glu638Ter) n.515+2578C>A n.722+2578C>A c.2200G>T (p.Glu734Ter) c.1897G>T (p.Glu633Ter) c.2125G>T (p.Glu709Ter) n.4613G>T n.5269G>T n.5729G>T | gnomAD v4 |
7 | g.148807663C>G | CA369711770 | EZH2 | n.4139G>C c.*1301G>C (n.*1301G>C) c.*1135G>C (n.*1135G>C) n.3958G>C n.4226G>C n.2555G>C n.2617G>C c.2239G>C (p.Glu747Gln) c.2107G>C (p.Glu703Gln) c.2224G>C (p.Glu742Gln) c.2071G>C (p.Glu691Gln) c.2197G>C (p.Glu733Gln) c.*2229G>C (n.*2229G>C) c.2248G>C (p.Glu750Gln) c.2221G>C (p.Glu741Gln) c.2095G>C (p.Glu699Gln) c.2263G>C (p.Glu755Gln) c.2236G>C (p.Glu746Gln) c.2215G>C (p.Glu739Gln) c.2212G>C (p.Glu738Gln) c.2173G>C (p.Glu725Gln) c.2146G>C (p.Glu716Gln) c.2140G>C (p.Glu714Gln) c.2137G>C (p.Glu713Gln) c.2131G>C (p.Glu711Gln) c.2122G>C (p.Glu708Gln) c.2119G>C (p.Glu707Gln) c.2005G>C (p.Glu669Gln) c.1912G>C (p.Glu638Gln) n.515+2578C>G n.722+2578C>G c.2200G>C (p.Glu734Gln) c.1897G>C (p.Glu633Gln) c.2125G>C (p.Glu709Gln) n.4613G>C n.5269G>C n.5729G>C | |
7 | g.148807663C>T | CA369711768 | EZH2 | n.4139G>A c.*1301G>A (n.*1301G>A) c.*1135G>A (n.*1135G>A) n.3958G>A n.4226G>A n.2555G>A n.2617G>A c.2239G>A (p.Glu747Lys) c.2107G>A (p.Glu703Lys) c.2224G>A (p.Glu742Lys) c.2071G>A (p.Glu691Lys) c.2197G>A (p.Glu733Lys) c.*2229G>A (n.*2229G>A) c.2248G>A (p.Glu750Lys) c.2221G>A (p.Glu741Lys) c.2095G>A (p.Glu699Lys) c.2263G>A (p.Glu755Lys) c.2236G>A (p.Glu746Lys) c.2215G>A (p.Glu739Lys) c.2212G>A (p.Glu738Lys) c.2173G>A (p.Glu725Lys) c.2146G>A (p.Glu716Lys) c.2140G>A (p.Glu714Lys) c.2137G>A (p.Glu713Lys) c.2131G>A (p.Glu711Lys) c.2122G>A (p.Glu708Lys) c.2119G>A (p.Glu707Lys) c.2005G>A (p.Glu669Lys) c.1912G>A (p.Glu638Lys) n.515+2578C>T n.722+2578C>T c.2200G>A (p.Glu734Lys) c.1897G>A (p.Glu633Lys) c.2125G>A (p.Glu709Lys) n.4613G>A n.5269G>A n.5729G>A | gnomAD v4 |
7 | g.148807664T>A | CA369711771 | EZH2 | n.4138A>T c.*1300A>T (n.*1300A>T) c.*1134A>T (n.*1134A>T) n.3957A>T n.4225A>T n.2554A>T n.2616A>T c.2238A>T (p.Arg746Ser) c.2106A>T (p.Arg702Ser) c.2223A>T (p.Arg741Ser) c.2070A>T (p.Arg690Ser) c.2196A>T (p.Arg732Ser) c.*2228A>T (n.*2228A>T) c.2247A>T (p.Arg749Ser) c.2220A>T (p.Arg740Ser) c.2094A>T (p.Arg698Ser) c.2262A>T (p.Arg754Ser) c.2235A>T (p.Arg745Ser) c.2214A>T (p.Arg738Ser) c.2211A>T (p.Arg737Ser) c.2172A>T (p.Arg724Ser) c.2145A>T (p.Arg715Ser) c.2139A>T (p.Arg713Ser) c.2136A>T (p.Arg712Ser) c.2130A>T (p.Arg710Ser) c.2121A>T (p.Arg707Ser) c.2118A>T (p.Arg706Ser) c.2004A>T (p.Arg668Ser) c.1911A>T (p.Arg637Ser) n.515+2579T>A n.722+2579T>A c.2199A>T (p.Arg733Ser) c.1896A>T (p.Arg632Ser) c.2124A>T (p.Arg708Ser) n.4612A>T n.5268A>T n.5728A>T | gnomAD v4 |
7 | g.148807664T>C | CA458345617 | EZH2 | n.4138A>G c.*1300A>G (n.*1300A>G) c.*1134A>G (n.*1134A>G) n.3957A>G n.4225A>G n.2554A>G n.2616A>G c.2238A>G (p.Arg746=) c.2106A>G (p.Arg702=) c.2223A>G (p.Arg741=) c.2070A>G (p.Arg690=) c.2196A>G (p.Arg732=) c.*2228A>G (n.*2228A>G) c.2247A>G (p.Arg749=) c.2220A>G (p.Arg740=) c.2094A>G (p.Arg698=) c.2262A>G (p.Arg754=) c.2235A>G (p.Arg745=) c.2214A>G (p.Arg738=) c.2211A>G (p.Arg737=) c.2172A>G (p.Arg724=) c.2145A>G (p.Arg715=) c.2139A>G (p.Arg713=) c.2136A>G (p.Arg712=) c.2130A>G (p.Arg710=) c.2121A>G (p.Arg707=) c.2118A>G (p.Arg706=) c.2004A>G (p.Arg668=) c.1911A>G (p.Arg637=) n.515+2579T>C n.722+2579T>C c.2199A>G (p.Arg733=) c.1896A>G (p.Arg632=) c.2124A>G (p.Arg708=) n.4612A>G n.5268A>G n.5728A>G | gnomAD v4 |
7 | g.148807664T>G | CA369711772 | EZH2 | n.4138A>C c.*1300A>C (n.*1300A>C) c.*1134A>C (n.*1134A>C) n.3957A>C n.4225A>C n.2554A>C n.2616A>C c.2238A>C (p.Arg746Ser) c.2106A>C (p.Arg702Ser) c.2223A>C (p.Arg741Ser) c.2070A>C (p.Arg690Ser) c.2196A>C (p.Arg732Ser) c.*2228A>C (n.*2228A>C) c.2247A>C (p.Arg749Ser) c.2220A>C (p.Arg740Ser) c.2094A>C (p.Arg698Ser) c.2262A>C (p.Arg754Ser) c.2235A>C (p.Arg745Ser) c.2214A>C (p.Arg738Ser) c.2211A>C (p.Arg737Ser) c.2172A>C (p.Arg724Ser) c.2145A>C (p.Arg715Ser) c.2139A>C (p.Arg713Ser) c.2136A>C (p.Arg712Ser) c.2130A>C (p.Arg710Ser) c.2121A>C (p.Arg707Ser) c.2118A>C (p.Arg706Ser) c.2004A>C (p.Arg668Ser) c.1911A>C (p.Arg637Ser) n.515+2579T>G n.722+2579T>G c.2199A>C (p.Arg733Ser) c.1896A>C (p.Arg632Ser) c.2124A>C (p.Arg708Ser) n.4612A>C n.5268A>C n.5728A>C | |
7 | g.148807664_148807672delinsCCTCTC | CA645563916 | EZH2 | n.4130_4138delinsGAGAGG c.*1292_*1300delinsGAGAGG (n.*1292_*1300delinsGAGAGG) c.*1126_*1134delinsGAGAGG (n.*1126_*1134delinsGAGAGG) n.3949_3957delinsGAGAGG n.4217_4225delinsGAGAGG n.2546_2554delinsGAGAGG n.2608_2616delinsGAGAGG c.2230_2238delinsGAGAGG (p.Ile744del) c.2098_2106delinsGAGAGG (p.Ile700del) c.2215_2223delinsGAGAGG (p.Ile739del) c.2062_2070delinsGAGAGG (p.Ile688del) c.2188_2196delinsGAGAGG (p.Ile730del) c.*2220_*2228delinsGAGAGG (n.*2220_*2228delinsGAGAGG) c.2239_2247delinsGAGAGG (p.Ile747del) c.2212_2220delinsGAGAGG (p.Ile738del) c.2086_2094delinsGAGAGG (p.Ile696del) c.2254_2262delinsGAGAGG (p.Ile752del) c.2227_2235delinsGAGAGG (p.Ile743del) c.2206_2214delinsGAGAGG (p.Ile736del) c.2203_2211delinsGAGAGG (p.Ile735del) c.2164_2172delinsGAGAGG (p.Ile722del) c.2137_2145delinsGAGAGG (p.Ile713del) c.2131_2139delinsGAGAGG (p.Ile711del) c.2128_2136delinsGAGAGG (p.Ile710del) c.2122_2130delinsGAGAGG (p.Ile708del) c.2113_2121delinsGAGAGG (p.Ile705del) c.2110_2118delinsGAGAGG (p.Ile704del) c.1996_2004delinsGAGAGG (p.Ile666del) c.1903_1911delinsGAGAGG (p.Ile635del) n.515+2579_515+2587delinsCCTCTC n.722+2579_722+2587delinsCCTCTC c.2191_2199delinsGAGAGG (p.Ile731del) c.1888_1896delinsGAGAGG (p.Ile630del) c.2116_2124delinsGAGAGG (p.Ile706del) n.4604_4612delinsGAGAGG n.5260_5268delinsGAGAGG n.5720_5728delinsGAGAGG | COSMIC |
7 | g.148807665C>A | CA369711773 | EZH2 | n.4137G>T c.*1299G>T (n.*1299G>T) c.*1133G>T (n.*1133G>T) n.3956G>T n.4224G>T n.2553G>T n.2615G>T c.2237G>T (p.Arg746Ile) c.2105G>T (p.Arg702Ile) c.2222G>T (p.Arg741Ile) c.2069G>T (p.Arg690Ile) c.2195G>T (p.Arg732Ile) c.*2227G>T (n.*2227G>T) c.2246G>T (p.Arg749Ile) c.2219G>T (p.Arg740Ile) c.2093G>T (p.Arg698Ile) c.2261G>T (p.Arg754Ile) c.2234G>T (p.Arg745Ile) c.2213G>T (p.Arg738Ile) c.2210G>T (p.Arg737Ile) c.2171G>T (p.Arg724Ile) c.2144G>T (p.Arg715Ile) c.2138G>T (p.Arg713Ile) c.2135G>T (p.Arg712Ile) c.2129G>T (p.Arg710Ile) c.2120G>T (p.Arg707Ile) c.2117G>T (p.Arg706Ile) c.2003G>T (p.Arg668Ile) c.1910G>T (p.Arg637Ile) n.515+2580C>A n.722+2580C>A c.2198G>T (p.Arg733Ile) c.1895G>T (p.Arg632Ile) c.2123G>T (p.Arg708Ile) n.4611G>T n.5267G>T n.5727G>T | gnomAD v4 |
7 | g.148807665C= | CA1751419278 | EZH2 | n.4137G= c.*1299G= (n.*1299G=) c.*1133G= (n.*1133G=) n.3956G= n.4224G= n.2553G= n.2615G= c.2237G= (p.Arg746=) c.2105G= (p.Arg702=) c.2222G= (p.Arg741=) c.2069G= (p.Arg690=) c.2195G= (p.Arg732=) c.*2227G= (n.*2227G=) c.2246G= (p.Arg749=) c.2219G= (p.Arg740=) c.2093G= (p.Arg698=) c.2261G= (p.Arg754=) c.2234G= (p.Arg745=) c.2213G= (p.Arg738=) c.2210G= (p.Arg737=) c.2171G= (p.Arg724=) c.2144G= (p.Arg715=) c.2138G= (p.Arg713=) c.2135G= (p.Arg712=) c.2129G= (p.Arg710=) c.2120G= (p.Arg707=) c.2117G= (p.Arg706=) c.2003G= (p.Arg668=) c.1910G= (p.Arg637=) n.515+2580C= n.722+2580C= c.2198G= (p.Arg733=) c.1895G= (p.Arg632=) c.2123G= (p.Arg708=) n.4611G= n.5267G= n.5727G= | |
7 | g.148807665C>G | CA369711774 | EZH2 | n.4137G>C c.*1299G>C (n.*1299G>C) c.*1133G>C (n.*1133G>C) n.3956G>C n.4224G>C n.2553G>C n.2615G>C c.2237G>C (p.Arg746Thr) c.2105G>C (p.Arg702Thr) c.2222G>C (p.Arg741Thr) c.2069G>C (p.Arg690Thr) c.2195G>C (p.Arg732Thr) c.*2227G>C (n.*2227G>C) c.2246G>C (p.Arg749Thr) c.2219G>C (p.Arg740Thr) c.2093G>C (p.Arg698Thr) c.2261G>C (p.Arg754Thr) c.2234G>C (p.Arg745Thr) c.2213G>C (p.Arg738Thr) c.2210G>C (p.Arg737Thr) c.2171G>C (p.Arg724Thr) c.2144G>C (p.Arg715Thr) c.2138G>C (p.Arg713Thr) c.2135G>C (p.Arg712Thr) c.2129G>C (p.Arg710Thr) c.2120G>C (p.Arg707Thr) c.2117G>C (p.Arg706Thr) c.2003G>C (p.Arg668Thr) c.1910G>C (p.Arg637Thr) n.515+2580C>G n.722+2580C>G c.2198G>C (p.Arg733Thr) c.1895G>C (p.Arg632Thr) c.2123G>C (p.Arg708Thr) n.4611G>C n.5267G>C n.5727G>C | |
7 | g.148807665C>T | CA369711775 | EZH2 | n.4137G>A c.*1299G>A (n.*1299G>A) c.*1133G>A (n.*1133G>A) n.3956G>A n.4224G>A n.2553G>A n.2615G>A c.2237G>A (p.Arg746Lys) c.2105G>A (p.Arg702Lys) c.2222G>A (p.Arg741Lys) c.2069G>A (p.Arg690Lys) c.2195G>A (p.Arg732Lys) c.*2227G>A (n.*2227G>A) c.2246G>A (p.Arg749Lys) c.2219G>A (p.Arg740Lys) c.2093G>A (p.Arg698Lys) c.2261G>A (p.Arg754Lys) c.2234G>A (p.Arg745Lys) c.2213G>A (p.Arg738Lys) c.2210G>A (p.Arg737Lys) c.2171G>A (p.Arg724Lys) c.2144G>A (p.Arg715Lys) c.2138G>A (p.Arg713Lys) c.2135G>A (p.Arg712Lys) c.2129G>A (p.Arg710Lys) c.2120G>A (p.Arg707Lys) c.2117G>A (p.Arg706Lys) c.2003G>A (p.Arg668Lys) c.1910G>A (p.Arg637Lys) n.515+2580C>T n.722+2580C>T c.2198G>A (p.Arg733Lys) c.1895G>A (p.Arg632Lys) c.2123G>A (p.Arg708Lys) n.4611G>A n.5267G>A n.5727G>A | dbSNP COSMIC COSMIC |
7 | g.148807666T>A | CA369711776 | EZH2 | n.4136A>T c.*1298A>T (n.*1298A>T) c.*1132A>T (n.*1132A>T) n.3955A>T n.4223A>T n.2552A>T n.2614A>T c.2236A>T (p.Arg746Ter) c.2104A>T (p.Arg702Ter) c.2221A>T (p.Arg741Ter) c.2068A>T (p.Arg690Ter) c.2194A>T (p.Arg732Ter) c.*2226A>T (n.*2226A>T) c.2245A>T (p.Arg749Ter) c.2218A>T (p.Arg740Ter) c.2092A>T (p.Arg698Ter) c.2260A>T (p.Arg754Ter) c.2233A>T (p.Arg745Ter) c.2212A>T (p.Arg738Ter) c.2209A>T (p.Arg737Ter) c.2170A>T (p.Arg724Ter) c.2143A>T (p.Arg715Ter) c.2137A>T (p.Arg713Ter) c.2134A>T (p.Arg712Ter) c.2128A>T (p.Arg710Ter) c.2119A>T (p.Arg707Ter) c.2116A>T (p.Arg706Ter) c.2002A>T (p.Arg668Ter) c.1909A>T (p.Arg637Ter) n.515+2581T>A n.722+2581T>A c.2197A>T (p.Arg733Ter) c.1894A>T (p.Arg632Ter) c.2122A>T (p.Arg708Ter) n.4610A>T n.5266A>T n.5726A>T | |
7 | g.148807666T>C | CA271515 | EZH2 | n.4136A>G c.*1298A>G (n.*1298A>G) c.*1132A>G (n.*1132A>G) n.3955A>G n.4223A>G n.2552A>G n.2614A>G c.2236A>G (p.Arg746Gly) c.2104A>G (p.Arg702Gly) c.2221A>G (p.Arg741Gly) c.2068A>G (p.Arg690Gly) c.2194A>G (p.Arg732Gly) c.*2226A>G (n.*2226A>G) c.2245A>G (p.Arg749Gly) c.2218A>G (p.Arg740Gly) c.2092A>G (p.Arg698Gly) c.2260A>G (p.Arg754Gly) c.2233A>G (p.Arg745Gly) c.2212A>G (p.Arg738Gly) c.2209A>G (p.Arg737Gly) c.2170A>G (p.Arg724Gly) c.2143A>G (p.Arg715Gly) c.2137A>G (p.Arg713Gly) c.2134A>G (p.Arg712Gly) c.2128A>G (p.Arg710Gly) c.2119A>G (p.Arg707Gly) c.2116A>G (p.Arg706Gly) c.2002A>G (p.Arg668Gly) c.1909A>G (p.Arg637Gly) n.515+2581T>C n.722+2581T>C c.2197A>G (p.Arg733Gly) c.1894A>G (p.Arg632Gly) c.2122A>G (p.Arg708Gly) n.4610A>G n.5266A>G n.5726A>G | ClinVar dbSNP gnomAD v4 |
7 | g.148807666T>G | CA458345618 | EZH2 | n.4136A>C c.*1298A>C (n.*1298A>C) c.*1132A>C (n.*1132A>C) n.3955A>C n.4223A>C n.2552A>C n.2614A>C c.2236A>C (p.Arg746=) c.2104A>C (p.Arg702=) c.2221A>C (p.Arg741=) c.2068A>C (p.Arg690=) c.2194A>C (p.Arg732=) c.*2226A>C (n.*2226A>C) c.2245A>C (p.Arg749=) c.2218A>C (p.Arg740=) c.2092A>C (p.Arg698=) c.2260A>C (p.Arg754=) c.2233A>C (p.Arg745=) c.2212A>C (p.Arg738=) c.2209A>C (p.Arg737=) c.2170A>C (p.Arg724=) c.2143A>C (p.Arg715=) c.2137A>C (p.Arg713=) c.2134A>C (p.Arg712=) c.2128A>C (p.Arg710=) c.2119A>C (p.Arg707=) c.2116A>C (p.Arg706=) c.2002A>C (p.Arg668=) c.1909A>C (p.Arg637=) n.515+2581T>G n.722+2581T>G c.2197A>C (p.Arg733=) c.1894A>C (p.Arg632=) c.2122A>C (p.Arg708=) n.4610A>C n.5266A>C n.5726A>C | |
7 | g.148807666T= | CA1751419283 | EZH2 | n.4136A= c.*1298A= (n.*1298A=) c.*1132A= (n.*1132A=) n.3955A= n.4223A= n.2552A= n.2614A= c.2236A= (p.Arg746=) c.2104A= (p.Arg702=) c.2221A= (p.Arg741=) c.2068A= (p.Arg690=) c.2194A= (p.Arg732=) c.*2226A= (n.*2226A=) c.2245A= (p.Arg749=) c.2218A= (p.Arg740=) c.2092A= (p.Arg698=) c.2260A= (p.Arg754=) c.2233A= (p.Arg745=) c.2212A= (p.Arg738=) c.2209A= (p.Arg737=) c.2170A= (p.Arg724=) c.2143A= (p.Arg715=) c.2137A= (p.Arg713=) c.2134A= (p.Arg712=) c.2128A= (p.Arg710=) c.2119A= (p.Arg707=) c.2116A= (p.Arg706=) c.2002A= (p.Arg668=) c.1909A= (p.Arg637=) n.515+2581T= n.722+2581T= c.2197A= (p.Arg733=) c.1894A= (p.Arg632=) c.2122A= (p.Arg708=) n.4610A= n.5266A= n.5726A= | |
7 | g.148807667T>A | CA369711777 | EZH2 | n.4135A>T c.*1297A>T (n.*1297A>T) c.*1131A>T (n.*1131A>T) n.3954A>T n.4222A>T n.2551A>T n.2613A>T c.2235A>T (p.Glu745Asp) c.2103A>T (p.Glu701Asp) c.2220A>T (p.Glu740Asp) c.2067A>T (p.Glu689Asp) c.2193A>T (p.Glu731Asp) c.*2225A>T (n.*2225A>T) c.2244A>T (p.Glu748Asp) c.2217A>T (p.Glu739Asp) c.2091A>T (p.Glu697Asp) c.2259A>T (p.Glu753Asp) c.2232A>T (p.Glu744Asp) c.2211A>T (p.Glu737Asp) c.2208A>T (p.Glu736Asp) c.2169A>T (p.Glu723Asp) c.2142A>T (p.Glu714Asp) c.2136A>T (p.Glu712Asp) c.2133A>T (p.Glu711Asp) c.2127A>T (p.Glu709Asp) c.2118A>T (p.Glu706Asp) c.2115A>T (p.Glu705Asp) c.2001A>T (p.Glu667Asp) c.1908A>T (p.Glu636Asp) n.515+2582T>A n.722+2582T>A c.2196A>T (p.Glu732Asp) c.1893A>T (p.Glu631Asp) c.2121A>T (p.Glu707Asp) n.4609A>T n.5265A>T n.5725A>T | ClinVar dbSNP |
7 | g.148807667T>C | CA458345619 | EZH2 | n.4135A>G c.*1297A>G (n.*1297A>G) c.*1131A>G (n.*1131A>G) n.3954A>G n.4222A>G n.2551A>G n.2613A>G c.2235A>G (p.Glu745=) c.2103A>G (p.Glu701=) c.2220A>G (p.Glu740=) c.2067A>G (p.Glu689=) c.2193A>G (p.Glu731=) c.*2225A>G (n.*2225A>G) c.2244A>G (p.Glu748=) c.2217A>G (p.Glu739=) c.2091A>G (p.Glu697=) c.2259A>G (p.Glu753=) c.2232A>G (p.Glu744=) c.2211A>G (p.Glu737=) c.2208A>G (p.Glu736=) c.2169A>G (p.Glu723=) c.2142A>G (p.Glu714=) c.2136A>G (p.Glu712=) c.2133A>G (p.Glu711=) c.2127A>G (p.Glu709=) c.2118A>G (p.Glu706=) c.2115A>G (p.Glu705=) c.2001A>G (p.Glu667=) c.1908A>G (p.Glu636=) n.515+2582T>C n.722+2582T>C c.2196A>G (p.Glu732=) c.1893A>G (p.Glu631=) c.2121A>G (p.Glu707=) n.4609A>G n.5265A>G n.5725A>G | gnomAD v4 |
7 | g.148807667T>G | CA369711778 | EZH2 | n.4135A>C c.*1297A>C (n.*1297A>C) c.*1131A>C (n.*1131A>C) n.3954A>C n.4222A>C n.2551A>C n.2613A>C c.2235A>C (p.Glu745Asp) c.2103A>C (p.Glu701Asp) c.2220A>C (p.Glu740Asp) c.2067A>C (p.Glu689Asp) c.2193A>C (p.Glu731Asp) c.*2225A>C (n.*2225A>C) c.2244A>C (p.Glu748Asp) c.2217A>C (p.Glu739Asp) c.2091A>C (p.Glu697Asp) c.2259A>C (p.Glu753Asp) c.2232A>C (p.Glu744Asp) c.2211A>C (p.Glu737Asp) c.2208A>C (p.Glu736Asp) c.2169A>C (p.Glu723Asp) c.2142A>C (p.Glu714Asp) c.2136A>C (p.Glu712Asp) c.2133A>C (p.Glu711Asp) c.2127A>C (p.Glu709Asp) c.2118A>C (p.Glu706Asp) c.2115A>C (p.Glu705Asp) c.2001A>C (p.Glu667Asp) c.1908A>C (p.Glu636Asp) n.515+2582T>G n.722+2582T>G c.2196A>C (p.Glu732Asp) c.1893A>C (p.Glu631Asp) c.2121A>C (p.Glu707Asp) n.4609A>C n.5265A>C n.5725A>C | dbSNP |
7 | g.148807667T= | CA1751419288 | EZH2 | n.4135A= c.*1297A= (n.*1297A=) c.*1131A= (n.*1131A=) n.3954A= n.4222A= n.2551A= n.2613A= c.2235A= (p.Glu745=) c.2103A= (p.Glu701=) c.2220A= (p.Glu740=) c.2067A= (p.Glu689=) c.2193A= (p.Glu731=) c.*2225A= (n.*2225A=) c.2244A= (p.Glu748=) c.2217A= (p.Glu739=) c.2091A= (p.Glu697=) c.2259A= (p.Glu753=) c.2232A= (p.Glu744=) c.2211A= (p.Glu737=) c.2208A= (p.Glu736=) c.2169A= (p.Glu723=) c.2142A= (p.Glu714=) c.2136A= (p.Glu712=) c.2133A= (p.Glu711=) c.2127A= (p.Glu709=) c.2118A= (p.Glu706=) c.2115A= (p.Glu705=) c.2001A= (p.Glu667=) c.1908A= (p.Glu636=) n.515+2582T= n.722+2582T= c.2196A= (p.Glu732=) c.1893A= (p.Glu631=) c.2121A= (p.Glu707=) n.4609A= n.5265A= n.5725A= | |
7 | g.148807668T>A | CA369711779 | EZH2 | n.4134A>T c.*1296A>T (n.*1296A>T) c.*1130A>T (n.*1130A>T) n.3953A>T n.4221A>T n.2550A>T n.2612A>T c.2234A>T (p.Glu745Val) c.2102A>T (p.Glu701Val) c.2219A>T (p.Glu740Val) c.2066A>T (p.Glu689Val) c.2192A>T (p.Glu731Val) c.*2224A>T (n.*2224A>T) c.2243A>T (p.Glu748Val) c.2216A>T (p.Glu739Val) c.2090A>T (p.Glu697Val) c.2258A>T (p.Glu753Val) c.2231A>T (p.Glu744Val) c.2210A>T (p.Glu737Val) c.2207A>T (p.Glu736Val) c.2168A>T (p.Glu723Val) c.2141A>T (p.Glu714Val) c.2135A>T (p.Glu712Val) c.2132A>T (p.Glu711Val) c.2126A>T (p.Glu709Val) c.2117A>T (p.Glu706Val) c.2114A>T (p.Glu705Val) c.2000A>T (p.Glu667Val) c.1907A>T (p.Glu636Val) n.515+2583T>A n.722+2583T>A c.2195A>T (p.Glu732Val) c.1892A>T (p.Glu631Val) c.2120A>T (p.Glu707Val) n.4608A>T n.5264A>T n.5724A>T | |
7 | g.148807668T>C | CA369711780 | EZH2 | n.4134A>G c.*1296A>G (n.*1296A>G) c.*1130A>G (n.*1130A>G) n.3953A>G n.4221A>G n.2550A>G n.2612A>G c.2234A>G (p.Glu745Gly) c.2102A>G (p.Glu701Gly) c.2219A>G (p.Glu740Gly) c.2066A>G (p.Glu689Gly) c.2192A>G (p.Glu731Gly) c.*2224A>G (n.*2224A>G) c.2243A>G (p.Glu748Gly) c.2216A>G (p.Glu739Gly) c.2090A>G (p.Glu697Gly) c.2258A>G (p.Glu753Gly) c.2231A>G (p.Glu744Gly) c.2210A>G (p.Glu737Gly) c.2207A>G (p.Glu736Gly) c.2168A>G (p.Glu723Gly) c.2141A>G (p.Glu714Gly) c.2135A>G (p.Glu712Gly) c.2132A>G (p.Glu711Gly) c.2126A>G (p.Glu709Gly) c.2117A>G (p.Glu706Gly) c.2114A>G (p.Glu705Gly) c.2000A>G (p.Glu667Gly) c.1907A>G (p.Glu636Gly) n.515+2583T>C n.722+2583T>C c.2195A>G (p.Glu732Gly) c.1892A>G (p.Glu631Gly) c.2120A>G (p.Glu707Gly) n.4608A>G n.5264A>G n.5724A>G | ClinVar dbSNP gnomAD v4 |
7 | g.148807668T>G | CA369711781 | EZH2 | n.4134A>C c.*1296A>C (n.*1296A>C) c.*1130A>C (n.*1130A>C) n.3953A>C n.4221A>C n.2550A>C n.2612A>C c.2234A>C (p.Glu745Ala) c.2102A>C (p.Glu701Ala) c.2219A>C (p.Glu740Ala) c.2066A>C (p.Glu689Ala) c.2192A>C (p.Glu731Ala) c.*2224A>C (n.*2224A>C) c.2243A>C (p.Glu748Ala) c.2216A>C (p.Glu739Ala) c.2090A>C (p.Glu697Ala) c.2258A>C (p.Glu753Ala) c.2231A>C (p.Glu744Ala) c.2210A>C (p.Glu737Ala) c.2207A>C (p.Glu736Ala) c.2168A>C (p.Glu723Ala) c.2141A>C (p.Glu714Ala) c.2135A>C (p.Glu712Ala) c.2132A>C (p.Glu711Ala) c.2126A>C (p.Glu709Ala) c.2117A>C (p.Glu706Ala) c.2114A>C (p.Glu705Ala) c.2000A>C (p.Glu667Ala) c.1907A>C (p.Glu636Ala) n.515+2583T>G n.722+2583T>G c.2195A>C (p.Glu732Ala) c.1892A>C (p.Glu631Ala) c.2120A>C (p.Glu707Ala) n.4608A>C n.5264A>C n.5724A>C | |
7 | g.148807668T= | CA1751419292 | EZH2 | n.4134A= c.*1296A= (n.*1296A=) c.*1130A= (n.*1130A=) n.3953A= n.4221A= n.2550A= n.2612A= c.2234A= (p.Glu745=) c.2102A= (p.Glu701=) c.2219A= (p.Glu740=) c.2066A= (p.Glu689=) c.2192A= (p.Glu731=) c.*2224A= (n.*2224A=) c.2243A= (p.Glu748=) c.2216A= (p.Glu739=) c.2090A= (p.Glu697=) c.2258A= (p.Glu753=) c.2231A= (p.Glu744=) c.2210A= (p.Glu737=) c.2207A= (p.Glu736=) c.2168A= (p.Glu723=) c.2141A= (p.Glu714=) c.2135A= (p.Glu712=) c.2132A= (p.Glu711=) c.2126A= (p.Glu709=) c.2117A= (p.Glu706=) c.2114A= (p.Glu705=) c.2000A= (p.Glu667=) c.1907A= (p.Glu636=) n.515+2583T= n.722+2583T= c.2195A= (p.Glu732=) c.1892A= (p.Glu631=) c.2120A= (p.Glu707=) n.4608A= n.5264A= n.5724A= | |
7 | g.148807668_148807673del | CA645563917 | EZH2 | n.4129_4134del c.*1291_*1296del (n.*1291_*1296del) c.*1125_*1130del (n.*1125_*1130del) n.3948_3953del n.4216_4221del n.2545_2550del n.2607_2612del c.2229_2234del (p.Ile744_Glu745del) c.2097_2102del (p.Ile700_Glu701del) c.2214_2219del (p.Ile739_Glu740del) c.2061_2066del (p.Ile688_Glu689del) c.2187_2192del (p.Ile730_Glu731del) c.*2219_*2224del (n.*2219_*2224del) c.2238_2243del (p.Ile747_Glu748del) c.2211_2216del (p.Ile738_Glu739del) c.2085_2090del (p.Ile696_Glu697del) c.2253_2258del (p.Ile752_Glu753del) c.2226_2231del (p.Ile743_Glu744del) c.2205_2210del (p.Ile736_Glu737del) c.2202_2207del (p.Ile735_Glu736del) c.2163_2168del (p.Ile722_Glu723del) c.2136_2141del (p.Ile713_Glu714del) c.2130_2135del (p.Ile711_Glu712del) c.2127_2132del (p.Ile710_Glu711del) c.2121_2126del (p.Ile708_Glu709del) c.2112_2117del (p.Ile705_Glu706del) c.2109_2114del (p.Ile704_Glu705del) c.1995_2000del (p.Ile666_Glu667del) c.1902_1907del (p.Ile635_Glu636del) n.515+2583_515+2588del n.722+2583_722+2588del c.2190_2195del (p.Ile731_Glu732del) c.1887_1892del (p.Ile630_Glu631del) c.2115_2120del (p.Ile706_Glu707del) n.4603_4608del n.5259_5264del n.5719_5724del | COSMIC COSMIC |
7 | g.148807668_148807683delinsGATCCTCGACGAC | CA2573320647 | EZH2 | n.4119_4134delinsGTCGTCGAGGATC c.*1281_*1296delinsGTCGTCGAGGATC (n.*1281_*1296delinsGTCGTCGAGGATC) c.*1115_*1130delinsGTCGTCGAGGATC (n.*1115_*1130delinsGTCGTCGAGGATC) n.3938_3953delinsGTCGTCGAGGATC n.4206_4221delinsGTCGTCGAGGATC n.2535_2550delinsGTCGTCGAGGATC n.2597_2612delinsGTCGTCGAGGATC c.2219_2234delinsGTCGTCGAGGATC (p.Lys740_Glu745delinsSerArgArgGlySer) c.2087_2102delinsGTCGTCGAGGATC (p.Lys696_Glu701delinsSerArgArgGlySer) c.2204_2219delinsGTCGTCGAGGATC (p.Lys735_Glu740delinsSerArgArgGlySer) c.2051_2066delinsGTCGTCGAGGATC (p.Lys684_Glu689delinsSerArgArgGlySer) c.2177_2192delinsGTCGTCGAGGATC (p.Lys726_Glu731delinsSerArgArgGlySer) c.*2209_*2224delinsGTCGTCGAGGATC (n.*2209_*2224delinsGTCGTCGAGGATC) c.2228_2243delinsGTCGTCGAGGATC (p.Lys743_Glu748delinsSerArgArgGlySer) c.2201_2216delinsGTCGTCGAGGATC (p.Lys734_Glu739delinsSerArgArgGlySer) c.2075_2090delinsGTCGTCGAGGATC (p.Lys692_Glu697delinsSerArgArgGlySer) c.2243_2258delinsGTCGTCGAGGATC (p.Lys748_Glu753delinsSerArgArgGlySer) c.2216_2231delinsGTCGTCGAGGATC (p.Lys739_Glu744delinsSerArgArgGlySer) c.2195_2210delinsGTCGTCGAGGATC (p.Lys732_Glu737delinsSerArgArgGlySer) c.2192_2207delinsGTCGTCGAGGATC (p.Lys731_Glu736delinsSerArgArgGlySer) c.2153_2168delinsGTCGTCGAGGATC (p.Lys718_Glu723delinsSerArgArgGlySer) c.2126_2141delinsGTCGTCGAGGATC (p.Lys709_Glu714delinsSerArgArgGlySer) c.2120_2135delinsGTCGTCGAGGATC (p.Lys707_Glu712delinsSerArgArgGlySer) c.2117_2132delinsGTCGTCGAGGATC (p.Lys706_Glu711delinsSerArgArgGlySer) c.2111_2126delinsGTCGTCGAGGATC (p.Lys704_Glu709delinsSerArgArgGlySer) c.2102_2117delinsGTCGTCGAGGATC (p.Lys701_Glu706delinsSerArgArgGlySer) c.2099_2114delinsGTCGTCGAGGATC (p.Lys700_Glu705delinsSerArgArgGlySer) c.1985_2000delinsGTCGTCGAGGATC (p.Lys662_Glu667delinsSerArgArgGlySer) c.1892_1907delinsGTCGTCGAGGATC (p.Lys631_Glu636delinsSerArgArgGlySer) n.515+2583_515+2598delinsGATCCTCGACGAC n.722+2583_722+2598delinsGATCCTCGACGAC c.2180_2195delinsGTCGTCGAGGATC (p.Lys727_Glu732delinsSerArgArgGlySer) c.1877_1892delinsGTCGTCGAGGATC (p.Lys626_Glu631delinsSerArgArgGlySer) c.2105_2120delinsGTCGTCGAGGATC (p.Lys702_Glu707delinsSerArgArgGlySer) n.4593_4608delinsGTCGTCGAGGATC n.5249_5264delinsGTCGTCGAGGATC n.5709_5724delinsGTCGTCGAGGATC | |
7 | g.148807669C>A | CA369711782 | EZH2 | n.4133G>T c.*1295G>T (n.*1295G>T) c.*1129G>T (n.*1129G>T) n.3952G>T n.4220G>T n.2549G>T n.2611G>T c.2233G>T (p.Glu745Ter) c.2101G>T (p.Glu701Ter) c.2218G>T (p.Glu740Ter) c.2065G>T (p.Glu689Ter) c.2191G>T (p.Glu731Ter) c.*2223G>T (n.*2223G>T) c.2242G>T (p.Glu748Ter) c.2215G>T (p.Glu739Ter) c.2089G>T (p.Glu697Ter) c.2257G>T (p.Glu753Ter) c.2230G>T (p.Glu744Ter) c.2209G>T (p.Glu737Ter) c.2206G>T (p.Glu736Ter) c.2167G>T (p.Glu723Ter) c.2140G>T (p.Glu714Ter) c.2134G>T (p.Glu712Ter) c.2131G>T (p.Glu711Ter) c.2125G>T (p.Glu709Ter) c.2116G>T (p.Glu706Ter) c.2113G>T (p.Glu705Ter) c.1999G>T (p.Glu667Ter) c.1906G>T (p.Glu636Ter) n.515+2584C>A n.722+2584C>A c.2194G>T (p.Glu732Ter) c.1891G>T (p.Glu631Ter) c.2119G>T (p.Glu707Ter) n.4607G>T n.5263G>T n.5723G>T | ClinVar gnomAD v4 |
7 | g.148807669C= | CA1751419297 | EZH2 | n.4133G= c.*1295G= (n.*1295G=) c.*1129G= (n.*1129G=) n.3952G= n.4220G= n.2549G= n.2611G= c.2233G= (p.Glu745=) c.2101G= (p.Glu701=) c.2218G= (p.Glu740=) c.2065G= (p.Glu689=) c.2191G= (p.Glu731=) c.*2223G= (n.*2223G=) c.2242G= (p.Glu748=) c.2215G= (p.Glu739=) c.2089G= (p.Glu697=) c.2257G= (p.Glu753=) c.2230G= (p.Glu744=) c.2209G= (p.Glu737=) c.2206G= (p.Glu736=) c.2167G= (p.Glu723=) c.2140G= (p.Glu714=) c.2134G= (p.Glu712=) c.2131G= (p.Glu711=) c.2125G= (p.Glu709=) c.2116G= (p.Glu706=) c.2113G= (p.Glu705=) c.1999G= (p.Glu667=) c.1906G= (p.Glu636=) n.515+2584C= n.722+2584C= c.2194G= (p.Glu732=) c.1891G= (p.Glu631=) c.2119G= (p.Glu707=) n.4607G= n.5263G= n.5723G= | |
7 | g.148807669C>G | CA369711783 | EZH2 | n.4133G>C c.*1295G>C (n.*1295G>C) c.*1129G>C (n.*1129G>C) n.3952G>C n.4220G>C n.2549G>C n.2611G>C c.2233G>C (p.Glu745Gln) c.2101G>C (p.Glu701Gln) c.2218G>C (p.Glu740Gln) c.2065G>C (p.Glu689Gln) c.2191G>C (p.Glu731Gln) c.*2223G>C (n.*2223G>C) c.2242G>C (p.Glu748Gln) c.2215G>C (p.Glu739Gln) c.2089G>C (p.Glu697Gln) c.2257G>C (p.Glu753Gln) c.2230G>C (p.Glu744Gln) c.2209G>C (p.Glu737Gln) c.2206G>C (p.Glu736Gln) c.2167G>C (p.Glu723Gln) c.2140G>C (p.Glu714Gln) c.2134G>C (p.Glu712Gln) c.2131G>C (p.Glu711Gln) c.2125G>C (p.Glu709Gln) c.2116G>C (p.Glu706Gln) c.2113G>C (p.Glu705Gln) c.1999G>C (p.Glu667Gln) c.1906G>C (p.Glu636Gln) n.515+2584C>G n.722+2584C>G c.2194G>C (p.Glu732Gln) c.1891G>C (p.Glu631Gln) c.2119G>C (p.Glu707Gln) n.4607G>C n.5263G>C n.5723G>C | COSMIC |
7 | g.148807669C>T | CA345008 | EZH2 | n.4133G>A c.*1295G>A (n.*1295G>A) c.*1129G>A (n.*1129G>A) n.3952G>A n.4220G>A n.2549G>A n.2611G>A c.2233G>A (p.Glu745Lys) c.2101G>A (p.Glu701Lys) c.2218G>A (p.Glu740Lys) c.2065G>A (p.Glu689Lys) c.2191G>A (p.Glu731Lys) c.*2223G>A (n.*2223G>A) c.2242G>A (p.Glu748Lys) c.2215G>A (p.Glu739Lys) c.2089G>A (p.Glu697Lys) c.2257G>A (p.Glu753Lys) c.2230G>A (p.Glu744Lys) c.2209G>A (p.Glu737Lys) c.2206G>A (p.Glu736Lys) c.2167G>A (p.Glu723Lys) c.2140G>A (p.Glu714Lys) c.2134G>A (p.Glu712Lys) c.2131G>A (p.Glu711Lys) c.2125G>A (p.Glu709Lys) c.2116G>A (p.Glu706Lys) c.2113G>A (p.Glu705Lys) c.1999G>A (p.Glu667Lys) c.1906G>A (p.Glu636Lys) n.515+2584C>T n.722+2584C>T c.2194G>A (p.Glu732Lys) c.1891G>A (p.Glu631Lys) c.2119G>A (p.Glu707Lys) n.4607G>A n.5263G>A n.5723G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
7 | g.148807669dup | CA2838547548 | EZH2 | n.4133dup c.*1295dup (n.*1295dup) c.*1129dup (n.*1129dup) n.3952dup n.4220dup n.2549dup n.2611dup c.2233dup (p.Glu745GlyfsTer18) c.2101dup (p.Glu701GlyfsTer18) c.2218dup (p.Glu740GlyfsTer18) c.2065dup (p.Glu689GlyfsTer18) c.2191dup (p.Glu731GlyfsTer18) c.*2223dup (n.*2223dup) c.2242dup (p.Glu748GlyfsTer18) c.2215dup (p.Glu739GlyfsTer18) c.2089dup (p.Glu697GlyfsTer18) c.2257dup (p.Glu753GlyfsTer18) c.2230dup (p.Glu744GlyfsTer18) c.2209dup (p.Glu737GlyfsTer18) c.2206dup (p.Glu736GlyfsTer18) c.2167dup (p.Glu723GlyfsTer18) c.2140dup (p.Glu714GlyfsTer18) c.2134dup (p.Glu712GlyfsTer18) c.2131dup (p.Glu711GlyfsTer18) c.2125dup (p.Glu709GlyfsTer18) c.2116dup (p.Glu706GlyfsTer18) c.2113dup (p.Glu705GlyfsTer18) c.1999dup (p.Glu667GlyfsTer18) c.1906dup (p.Glu636GlyfsTer18) n.515+2584dup n.722+2584dup c.2194dup (p.Glu732GlyfsTer18) c.1891dup (p.Glu631GlyfsTer18) c.2119dup (p.Glu707GlyfsTer18) n.4607dup n.5263dup n.5723dup | |
7 | g.148807670_148807674dup | CA645563918 | EZH2 | n.4129_4133dup c.*1291_*1295dup (n.*1291_*1295dup) c.*1125_*1129dup (n.*1125_*1129dup) n.3948_3952dup n.4216_4220dup n.2545_2549dup n.2607_2611dup c.2229_2233dup (p.Glu745AlafsTer24) c.2097_2101dup (p.Glu701AlafsTer24) c.2214_2218dup (p.Glu740AlafsTer24) c.2061_2065dup (p.Glu689AlafsTer24) c.2187_2191dup (p.Glu731AlafsTer24) c.*2219_*2223dup (n.*2219_*2223dup) c.2238_2242dup (p.Glu748AlafsTer24) c.2211_2215dup (p.Glu739AlafsTer24) c.2085_2089dup (p.Glu697AlafsTer24) c.2253_2257dup (p.Glu753AlafsTer24) c.2226_2230dup (p.Glu744AlafsTer24) c.2205_2209dup (p.Glu737AlafsTer24) c.2202_2206dup (p.Glu736AlafsTer24) c.2163_2167dup (p.Glu723AlafsTer24) c.2136_2140dup (p.Glu714AlafsTer24) c.2130_2134dup (p.Glu712AlafsTer24) c.2127_2131dup (p.Glu711AlafsTer24) c.2121_2125dup (p.Glu709AlafsTer24) c.2112_2116dup (p.Glu706AlafsTer24) c.2109_2113dup (p.Glu705AlafsTer24) c.1995_1999dup (p.Glu667AlafsTer24) c.1902_1906dup (p.Glu636AlafsTer24) n.515+2585_515+2589dup n.722+2585_722+2589dup c.2190_2194dup (p.Glu732AlafsTer24) c.1887_1891dup (p.Glu631AlafsTer24) c.2115_2119dup (p.Glu707AlafsTer24) n.4603_4607dup n.5259_5263dup n.5719_5723dup | COSMIC |
7 | g.148807670del | CA645563919 | EZH2 | n.4132del c.*1294del (n.*1294del) c.*1128del (n.*1128del) n.3951del n.4219del n.2548del n.2610del c.2232del (p.Ile744MetfsTer23) c.2100del (p.Ile700MetfsTer23) c.2217del (p.Ile739MetfsTer23) c.2064del (p.Ile688MetfsTer23) c.2190del (p.Ile730MetfsTer23) c.*2222del (n.*2222del) c.2241del (p.Ile747MetfsTer23) c.2214del (p.Ile738MetfsTer23) c.2088del (p.Ile696MetfsTer23) c.2256del (p.Ile752MetfsTer23) c.2229del (p.Ile743MetfsTer23) c.2208del (p.Ile736MetfsTer23) c.2205del (p.Ile735MetfsTer23) c.2166del (p.Ile722MetfsTer23) c.2139del (p.Ile713MetfsTer23) c.2133del (p.Ile711MetfsTer23) c.2130del (p.Ile710MetfsTer23) c.2124del (p.Ile708MetfsTer23) c.2115del (p.Ile705MetfsTer23) c.2112del (p.Ile704MetfsTer23) c.1998del (p.Ile666MetfsTer23) c.1905del (p.Ile635MetfsTer23) n.515+2585del n.722+2585del c.2193del (p.Ile731MetfsTer23) c.1890del (p.Ile630MetfsTer23) c.2118del (p.Ile706MetfsTer23) n.4606del n.5262del n.5722del | COSMIC |
7 | g.148807670G>A | CA4547658 | EZH2 | n.4132C>T c.*1294C>T (n.*1294C>T) c.*1128C>T (n.*1128C>T) n.3951C>T n.4219C>T n.2548C>T n.2610C>T c.2232C>T (p.Ile744=) c.2100C>T (p.Ile700=) c.2217C>T (p.Ile739=) c.2064C>T (p.Ile688=) c.2190C>T (p.Ile730=) c.*2222C>T (n.*2222C>T) c.2241C>T (p.Ile747=) c.2214C>T (p.Ile738=) c.2088C>T (p.Ile696=) c.2256C>T (p.Ile752=) c.2229C>T (p.Ile743=) c.2208C>T (p.Ile736=) c.2205C>T (p.Ile735=) c.2166C>T (p.Ile722=) c.2139C>T (p.Ile713=) c.2133C>T (p.Ile711=) c.2130C>T (p.Ile710=) c.2124C>T (p.Ile708=) c.2115C>T (p.Ile705=) c.2112C>T (p.Ile704=) c.1998C>T (p.Ile666=) c.1905C>T (p.Ile635=) n.515+2585G>A n.722+2585G>A c.2193C>T (p.Ile731=) c.1890C>T (p.Ile630=) c.2118C>T (p.Ile706=) n.4606C>T n.5262C>T n.5722C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.148807670G>C | CA369711784 | EZH2 | n.4132C>G c.*1294C>G (n.*1294C>G) c.*1128C>G (n.*1128C>G) n.3951C>G n.4219C>G n.2548C>G n.2610C>G c.2232C>G (p.Ile744Met) c.2100C>G (p.Ile700Met) c.2217C>G (p.Ile739Met) c.2064C>G (p.Ile688Met) c.2190C>G (p.Ile730Met) c.*2222C>G (n.*2222C>G) c.2241C>G (p.Ile747Met) c.2214C>G (p.Ile738Met) c.2088C>G (p.Ile696Met) c.2256C>G (p.Ile752Met) c.2229C>G (p.Ile743Met) c.2208C>G (p.Ile736Met) c.2205C>G (p.Ile735Met) c.2166C>G (p.Ile722Met) c.2139C>G (p.Ile713Met) c.2133C>G (p.Ile711Met) c.2130C>G (p.Ile710Met) c.2124C>G (p.Ile708Met) c.2115C>G (p.Ile705Met) c.2112C>G (p.Ile704Met) c.1998C>G (p.Ile666Met) c.1905C>G (p.Ile635Met) n.515+2585G>C n.722+2585G>C c.2193C>G (p.Ile731Met) c.1890C>G (p.Ile630Met) c.2118C>G (p.Ile706Met) n.4606C>G n.5262C>G n.5722C>G | dbSNP |
7 | g.148807670G= | CA1751419304 | EZH2 | n.4132C= c.*1294C= (n.*1294C=) c.*1128C= (n.*1128C=) n.3951C= n.4219C= n.2548C= n.2610C= c.2232C= (p.Ile744=) c.2100C= (p.Ile700=) c.2217C= (p.Ile739=) c.2064C= (p.Ile688=) c.2190C= (p.Ile730=) c.*2222C= (n.*2222C=) c.2241C= (p.Ile747=) c.2214C= (p.Ile738=) c.2088C= (p.Ile696=) c.2256C= (p.Ile752=) c.2229C= (p.Ile743=) c.2208C= (p.Ile736=) c.2205C= (p.Ile735=) c.2166C= (p.Ile722=) c.2139C= (p.Ile713=) c.2133C= (p.Ile711=) c.2130C= (p.Ile710=) c.2124C= (p.Ile708=) c.2115C= (p.Ile705=) c.2112C= (p.Ile704=) c.1998C= (p.Ile666=) c.1905C= (p.Ile635=) n.515+2585G= n.722+2585G= c.2193C= (p.Ile731=) c.1890C= (p.Ile630=) c.2118C= (p.Ile706=) n.4606C= n.5262C= n.5722C= | |
7 | g.148807670G>T | CA458345620 | EZH2 | n.4132C>A c.*1294C>A (n.*1294C>A) c.*1128C>A (n.*1128C>A) n.3951C>A n.4219C>A n.2548C>A n.2610C>A c.2232C>A (p.Ile744=) c.2100C>A (p.Ile700=) c.2217C>A (p.Ile739=) c.2064C>A (p.Ile688=) c.2190C>A (p.Ile730=) c.*2222C>A (n.*2222C>A) c.2241C>A (p.Ile747=) c.2214C>A (p.Ile738=) c.2088C>A (p.Ile696=) c.2256C>A (p.Ile752=) c.2229C>A (p.Ile743=) c.2208C>A (p.Ile736=) c.2205C>A (p.Ile735=) c.2166C>A (p.Ile722=) c.2139C>A (p.Ile713=) c.2133C>A (p.Ile711=) c.2130C>A (p.Ile710=) c.2124C>A (p.Ile708=) c.2115C>A (p.Ile705=) c.2112C>A (p.Ile704=) c.1998C>A (p.Ile666=) c.1905C>A (p.Ile635=) n.515+2585G>T n.722+2585G>T c.2193C>A (p.Ile731=) c.1890C>A (p.Ile630=) c.2118C>A (p.Ile706=) n.4606C>A n.5262C>A n.5722C>A | gnomAD v4 |
7 | g.148807671_148807673dup | CA645563920 | EZH2 | n.4130_4132dup c.*1292_*1294dup (n.*1292_*1294dup) c.*1126_*1128dup (n.*1126_*1128dup) n.3949_3951dup n.4217_4219dup n.2546_2548dup n.2608_2610dup c.2230_2232dup (p.Ile744_Glu745insIle) c.2098_2100dup (p.Ile700_Glu701insIle) c.2215_2217dup (p.Ile739_Glu740insIle) c.2062_2064dup (p.Ile688_Glu689insIle) c.2188_2190dup (p.Ile730_Glu731insIle) c.*2220_*2222dup (n.*2220_*2222dup) c.2239_2241dup (p.Ile747_Glu748insIle) c.2212_2214dup (p.Ile738_Glu739insIle) c.2086_2088dup (p.Ile696_Glu697insIle) c.2254_2256dup (p.Ile752_Glu753insIle) c.2227_2229dup (p.Ile743_Glu744insIle) c.2206_2208dup (p.Ile736_Glu737insIle) c.2203_2205dup (p.Ile735_Glu736insIle) c.2164_2166dup (p.Ile722_Glu723insIle) c.2137_2139dup (p.Ile713_Glu714insIle) c.2131_2133dup (p.Ile711_Glu712insIle) c.2128_2130dup (p.Ile710_Glu711insIle) c.2122_2124dup (p.Ile708_Glu709insIle) c.2113_2115dup (p.Ile705_Glu706insIle) c.2110_2112dup (p.Ile704_Glu705insIle) c.1996_1998dup (p.Ile666_Glu667insIle) c.1903_1905dup (p.Ile635_Glu636insIle) n.515+2586_515+2588dup n.722+2586_722+2588dup c.2191_2193dup (p.Ile731_Glu732insIle) c.1888_1890dup (p.Ile630_Glu631insIle) c.2116_2118dup (p.Ile706_Glu707insIle) n.4604_4606dup n.5260_5262dup n.5720_5722dup | ClinVar COSMIC |
7 | g.148807670_148807671insT | CA645563921 | EZH2 | n.4131_4132insA c.*1293_*1294insA (n.*1293_*1294insA) c.*1127_*1128insA (n.*1127_*1128insA) n.3950_3951insA n.4218_4219insA n.2547_2548insA n.2609_2610insA c.2231_2232insA (p.Glu745ArgfsTer18) c.2099_2100insA (p.Glu701ArgfsTer18) c.2216_2217insA (p.Glu740ArgfsTer18) c.2063_2064insA (p.Glu689ArgfsTer18) c.2189_2190insA (p.Glu731ArgfsTer18) c.*2221_*2222insA (n.*2221_*2222insA) c.2240_2241insA (p.Glu748ArgfsTer18) c.2213_2214insA (p.Glu739ArgfsTer18) c.2087_2088insA (p.Glu697ArgfsTer18) c.2255_2256insA (p.Glu753ArgfsTer18) c.2228_2229insA (p.Glu744ArgfsTer18) c.2207_2208insA (p.Glu737ArgfsTer18) c.2204_2205insA (p.Glu736ArgfsTer18) c.2165_2166insA (p.Glu723ArgfsTer18) c.2138_2139insA (p.Glu714ArgfsTer18) c.2132_2133insA (p.Glu712ArgfsTer18) c.2129_2130insA (p.Glu711ArgfsTer18) c.2123_2124insA (p.Glu709ArgfsTer18) c.2114_2115insA (p.Glu706ArgfsTer18) c.2111_2112insA (p.Glu705ArgfsTer18) c.1997_1998insA (p.Glu667ArgfsTer18) c.1904_1905insA (p.Glu636ArgfsTer18) n.515+2585_515+2586insT n.722+2585_722+2586insT c.2192_2193insA (p.Glu732ArgfsTer18) c.1889_1890insA (p.Glu631ArgfsTer18) c.2117_2118insA (p.Glu707ArgfsTer18) n.4605_4606insA n.5261_5262insA n.5721_5722insA | COSMIC COSMIC |
7 | g.148807671A>C | CA369711785 | EZH2 | n.4131T>G c.*1293T>G (n.*1293T>G) c.*1127T>G (n.*1127T>G) n.3950T>G n.4218T>G n.2547T>G n.2609T>G c.2231T>G (p.Ile744Ser) c.2099T>G (p.Ile700Ser) c.2216T>G (p.Ile739Ser) c.2063T>G (p.Ile688Ser) c.2189T>G (p.Ile730Ser) c.*2221T>G (n.*2221T>G) c.2240T>G (p.Ile747Ser) c.2213T>G (p.Ile738Ser) c.2087T>G (p.Ile696Ser) c.2255T>G (p.Ile752Ser) c.2228T>G (p.Ile743Ser) c.2207T>G (p.Ile736Ser) c.2204T>G (p.Ile735Ser) c.2165T>G (p.Ile722Ser) c.2138T>G (p.Ile713Ser) c.2132T>G (p.Ile711Ser) c.2129T>G (p.Ile710Ser) c.2123T>G (p.Ile708Ser) c.2114T>G (p.Ile705Ser) c.2111T>G (p.Ile704Ser) c.1997T>G (p.Ile666Ser) c.1904T>G (p.Ile635Ser) n.515+2586A>C n.722+2586A>C c.2192T>G (p.Ile731Ser) c.1889T>G (p.Ile630Ser) c.2117T>G (p.Ile706Ser) n.4605T>G n.5261T>G n.5721T>G | |
7 | g.148807671A>G | CA369711786 | EZH2 | n.4131T>C c.*1293T>C (n.*1293T>C) c.*1127T>C (n.*1127T>C) n.3950T>C n.4218T>C n.2547T>C n.2609T>C c.2231T>C (p.Ile744Thr) c.2099T>C (p.Ile700Thr) c.2216T>C (p.Ile739Thr) c.2063T>C (p.Ile688Thr) c.2189T>C (p.Ile730Thr) c.*2221T>C (n.*2221T>C) c.2240T>C (p.Ile747Thr) c.2213T>C (p.Ile738Thr) c.2087T>C (p.Ile696Thr) c.2255T>C (p.Ile752Thr) c.2228T>C (p.Ile743Thr) c.2207T>C (p.Ile736Thr) c.2204T>C (p.Ile735Thr) c.2165T>C (p.Ile722Thr) c.2138T>C (p.Ile713Thr) c.2132T>C (p.Ile711Thr) c.2129T>C (p.Ile710Thr) c.2123T>C (p.Ile708Thr) c.2114T>C (p.Ile705Thr) c.2111T>C (p.Ile704Thr) c.1997T>C (p.Ile666Thr) c.1904T>C (p.Ile635Thr) n.515+2586A>G n.722+2586A>G c.2192T>C (p.Ile731Thr) c.1889T>C (p.Ile630Thr) c.2117T>C (p.Ile706Thr) n.4605T>C n.5261T>C n.5721T>C | |
7 | g.148807671A>T | CA369711787 | EZH2 | n.4131T>A c.*1293T>A (n.*1293T>A) c.*1127T>A (n.*1127T>A) n.3950T>A n.4218T>A n.2547T>A n.2609T>A c.2231T>A (p.Ile744Asn) c.2099T>A (p.Ile700Asn) c.2216T>A (p.Ile739Asn) c.2063T>A (p.Ile688Asn) c.2189T>A (p.Ile730Asn) c.*2221T>A (n.*2221T>A) c.2240T>A (p.Ile747Asn) c.2213T>A (p.Ile738Asn) c.2087T>A (p.Ile696Asn) c.2255T>A (p.Ile752Asn) c.2228T>A (p.Ile743Asn) c.2207T>A (p.Ile736Asn) c.2204T>A (p.Ile735Asn) c.2165T>A (p.Ile722Asn) c.2138T>A (p.Ile713Asn) c.2132T>A (p.Ile711Asn) c.2129T>A (p.Ile710Asn) c.2123T>A (p.Ile708Asn) c.2114T>A (p.Ile705Asn) c.2111T>A (p.Ile704Asn) c.1997T>A (p.Ile666Asn) c.1904T>A (p.Ile635Asn) n.515+2586A>T n.722+2586A>T c.2192T>A (p.Ile731Asn) c.1889T>A (p.Ile630Asn) c.2117T>A (p.Ile706Asn) n.4605T>A n.5261T>A n.5721T>A | |
7 | g.148807671_148807672insATGCA | CA645563925 | EZH2 | n.4131_4132insGCATT c.*1293_*1294insGCATT (n.*1293_*1294insGCATT) c.*1127_*1128insGCATT (n.*1127_*1128insGCATT) n.3950_3951insGCATT n.4218_4219insGCATT n.2547_2548insGCATT n.2609_2610insGCATT c.2231_2232insGCATT (p.Ile744MetfsTer25) c.2099_2100insGCATT (p.Ile700MetfsTer25) c.2216_2217insGCATT (p.Ile739MetfsTer25) c.2063_2064insGCATT (p.Ile688MetfsTer25) c.2189_2190insGCATT (p.Ile730MetfsTer25) c.*2221_*2222insGCATT (n.*2221_*2222insGCATT) c.2240_2241insGCATT (p.Ile747MetfsTer25) c.2213_2214insGCATT (p.Ile738MetfsTer25) c.2087_2088insGCATT (p.Ile696MetfsTer25) c.2255_2256insGCATT (p.Ile752MetfsTer25) c.2228_2229insGCATT (p.Ile743MetfsTer25) c.2207_2208insGCATT (p.Ile736MetfsTer25) c.2204_2205insGCATT (p.Ile735MetfsTer25) c.2165_2166insGCATT (p.Ile722MetfsTer25) c.2138_2139insGCATT (p.Ile713MetfsTer25) c.2132_2133insGCATT (p.Ile711MetfsTer25) c.2129_2130insGCATT (p.Ile710MetfsTer25) c.2123_2124insGCATT (p.Ile708MetfsTer25) c.2114_2115insGCATT (p.Ile705MetfsTer25) c.2111_2112insGCATT (p.Ile704MetfsTer25) c.1997_1998insGCATT (p.Ile666MetfsTer25) c.1904_1905insGCATT (p.Ile635MetfsTer25) n.515+2586_515+2587insATGCA n.722+2586_722+2587insATGCA c.2192_2193insGCATT (p.Ile731MetfsTer25) c.1889_1890insGCATT (p.Ile630MetfsTer25) c.2117_2118insGCATT (p.Ile706MetfsTer25) n.4605_4606insGCATT n.5261_5262insGCATT n.5721_5722insGCATT | COSMIC COSMIC |
7 | g.148807674_148807675insAATGC | CA645563923 | EZH2 | n.4131_4132insTGCAT c.*1293_*1294insTGCAT (n.*1293_*1294insTGCAT) c.*1127_*1128insTGCAT (n.*1127_*1128insTGCAT) n.3950_3951insTGCAT n.4218_4219insTGCAT n.2547_2548insTGCAT n.2609_2610insTGCAT c.2231_2232insTGCAT (p.Glu745AlafsTer24) c.2099_2100insTGCAT (p.Glu701AlafsTer24) c.2216_2217insTGCAT (p.Glu740AlafsTer24) c.2063_2064insTGCAT (p.Glu689AlafsTer24) c.2189_2190insTGCAT (p.Glu731AlafsTer24) c.*2221_*2222insTGCAT (n.*2221_*2222insTGCAT) c.2240_2241insTGCAT (p.Glu748AlafsTer24) c.2213_2214insTGCAT (p.Glu739AlafsTer24) c.2087_2088insTGCAT (p.Glu697AlafsTer24) c.2255_2256insTGCAT (p.Glu753AlafsTer24) c.2228_2229insTGCAT (p.Glu744AlafsTer24) c.2207_2208insTGCAT (p.Glu737AlafsTer24) c.2204_2205insTGCAT (p.Glu736AlafsTer24) c.2165_2166insTGCAT (p.Glu723AlafsTer24) c.2138_2139insTGCAT (p.Glu714AlafsTer24) c.2132_2133insTGCAT (p.Glu712AlafsTer24) c.2129_2130insTGCAT (p.Glu711AlafsTer24) c.2123_2124insTGCAT (p.Glu709AlafsTer24) c.2114_2115insTGCAT (p.Glu706AlafsTer24) c.2111_2112insTGCAT (p.Glu705AlafsTer24) c.1997_1998insTGCAT (p.Glu667AlafsTer24) c.1904_1905insTGCAT (p.Glu636AlafsTer24) n.515+2589_515+2590insAATGC n.722+2589_722+2590insAATGC c.2192_2193insTGCAT (p.Glu732AlafsTer24) c.1889_1890insTGCAT (p.Glu631AlafsTer24) c.2117_2118insTGCAT (p.Glu707AlafsTer24) n.4605_4606insTGCAT n.5261_5262insTGCAT n.5721_5722insTGCAT | COSMIC COSMIC |
7 | g.148807671_148807675dup | CA645563922 | EZH2 | n.4127_4131dup c.*1289_*1293dup (n.*1289_*1293dup) c.*1123_*1127dup (n.*1123_*1127dup) n.3946_3950dup n.4214_4218dup n.2543_2547dup n.2605_2609dup c.2227_2231dup (p.Ile744MetfsTer25) c.2095_2099dup (p.Ile700MetfsTer25) c.2212_2216dup (p.Ile739MetfsTer25) c.2059_2063dup (p.Ile688MetfsTer25) c.2185_2189dup (p.Ile730MetfsTer25) c.*2217_*2221dup (n.*2217_*2221dup) c.2236_2240dup (p.Ile747MetfsTer25) c.2209_2213dup (p.Ile738MetfsTer25) c.2083_2087dup (p.Ile696MetfsTer25) c.2251_2255dup (p.Ile752MetfsTer25) c.2224_2228dup (p.Ile743MetfsTer25) c.2203_2207dup (p.Ile736MetfsTer25) c.2200_2204dup (p.Ile735MetfsTer25) c.2161_2165dup (p.Ile722MetfsTer25) c.2134_2138dup (p.Ile713MetfsTer25) c.2128_2132dup (p.Ile711MetfsTer25) c.2125_2129dup (p.Ile710MetfsTer25) c.2119_2123dup (p.Ile708MetfsTer25) c.2110_2114dup (p.Ile705MetfsTer25) c.2107_2111dup (p.Ile704MetfsTer25) c.1993_1997dup (p.Ile666MetfsTer25) c.1900_1904dup (p.Ile635MetfsTer25) n.515+2586_515+2590dup n.722+2586_722+2590dup c.2188_2192dup (p.Ile731MetfsTer25) c.1885_1889dup (p.Ile630MetfsTer25) c.2113_2117dup (p.Ile706MetfsTer25) n.4601_4605dup n.5257_5261dup n.5717_5721dup | COSMIC COSMIC |
7 | g.148807676_148807677insGTCAGCCATGCCG | CA645563924 | EZH2 | n.4131_4132insGGCTGACCGGCAT c.*1293_*1294insGGCTGACCGGCAT (n.*1293_*1294insGGCTGACCGGCAT) c.*1127_*1128insGGCTGACCGGCAT (n.*1127_*1128insGGCTGACCGGCAT) n.3950_3951insGGCTGACCGGCAT n.4218_4219insGGCTGACCGGCAT n.2547_2548insGGCTGACCGGCAT n.2609_2610insGGCTGACCGGCAT c.2231_2232insGGCTGACCGGCAT (p.Ile744MetfsTer23) c.2099_2100insGGCTGACCGGCAT (p.Ile700MetfsTer23) c.2216_2217insGGCTGACCGGCAT (p.Ile739MetfsTer23) c.2063_2064insGGCTGACCGGCAT (p.Ile688MetfsTer23) c.2189_2190insGGCTGACCGGCAT (p.Ile730MetfsTer23) c.*2221_*2222insGGCTGACCGGCAT (n.*2221_*2222insGGCTGACCGGCAT) c.2240_2241insGGCTGACCGGCAT (p.Ile747MetfsTer23) c.2213_2214insGGCTGACCGGCAT (p.Ile738MetfsTer23) c.2087_2088insGGCTGACCGGCAT (p.Ile696MetfsTer23) c.2255_2256insGGCTGACCGGCAT (p.Ile752MetfsTer23) c.2228_2229insGGCTGACCGGCAT (p.Ile743MetfsTer23) c.2207_2208insGGCTGACCGGCAT (p.Ile736MetfsTer23) c.2204_2205insGGCTGACCGGCAT (p.Ile735MetfsTer23) c.2165_2166insGGCTGACCGGCAT (p.Ile722MetfsTer23) c.2138_2139insGGCTGACCGGCAT (p.Ile713MetfsTer23) c.2132_2133insGGCTGACCGGCAT (p.Ile711MetfsTer23) c.2129_2130insGGCTGACCGGCAT (p.Ile710MetfsTer23) c.2123_2124insGGCTGACCGGCAT (p.Ile708MetfsTer23) c.2114_2115insGGCTGACCGGCAT (p.Ile705MetfsTer23) c.2111_2112insGGCTGACCGGCAT (p.Ile704MetfsTer23) c.1997_1998insGGCTGACCGGCAT (p.Ile666MetfsTer23) c.1904_1905insGGCTGACCGGCAT (p.Ile635MetfsTer23) n.515+2591_515+2592insGTCAGCCATGCCG n.722+2591_722+2592insGTCAGCCATGCCG c.2192_2193insGGCTGACCGGCAT (p.Ile731MetfsTer23) c.1889_1890insGGCTGACCGGCAT (p.Ile630MetfsTer23) c.2117_2118insGGCTGACCGGCAT (p.Ile706MetfsTer23) n.4605_4606insGGCTGACCGGCAT n.5261_5262insGGCTGACCGGCAT n.5721_5722insGGCTGACCGGCAT | COSMIC |
7 | g.148807672T>A | CA369711790 | EZH2 | n.4130A>T c.*1292A>T (n.*1292A>T) c.*1126A>T (n.*1126A>T) n.3949A>T n.4217A>T n.2546A>T n.2608A>T c.2230A>T (p.Ile744Phe) c.2098A>T (p.Ile700Phe) c.2215A>T (p.Ile739Phe) c.2062A>T (p.Ile688Phe) c.2188A>T (p.Ile730Phe) c.*2220A>T (n.*2220A>T) c.2239A>T (p.Ile747Phe) c.2212A>T (p.Ile738Phe) c.2086A>T (p.Ile696Phe) c.2254A>T (p.Ile752Phe) c.2227A>T (p.Ile743Phe) c.2206A>T (p.Ile736Phe) c.2203A>T (p.Ile735Phe) c.2164A>T (p.Ile722Phe) c.2137A>T (p.Ile713Phe) c.2131A>T (p.Ile711Phe) c.2128A>T (p.Ile710Phe) c.2122A>T (p.Ile708Phe) c.2113A>T (p.Ile705Phe) c.2110A>T (p.Ile704Phe) c.1996A>T (p.Ile666Phe) c.1903A>T (p.Ile635Phe) n.515+2587T>A n.722+2587T>A c.2191A>T (p.Ile731Phe) c.1888A>T (p.Ile630Phe) c.2116A>T (p.Ile706Phe) n.4604A>T n.5260A>T n.5720A>T | gnomAD v4 |
7 | g.148807672T>C | CA369711788 | EZH2 | n.4130A>G c.*1292A>G (n.*1292A>G) c.*1126A>G (n.*1126A>G) n.3949A>G n.4217A>G n.2546A>G n.2608A>G c.2230A>G (p.Ile744Val) c.2098A>G (p.Ile700Val) c.2215A>G (p.Ile739Val) c.2062A>G (p.Ile688Val) c.2188A>G (p.Ile730Val) c.*2220A>G (n.*2220A>G) c.2239A>G (p.Ile747Val) c.2212A>G (p.Ile738Val) c.2086A>G (p.Ile696Val) c.2254A>G (p.Ile752Val) c.2227A>G (p.Ile743Val) c.2206A>G (p.Ile736Val) c.2203A>G (p.Ile735Val) c.2164A>G (p.Ile722Val) c.2137A>G (p.Ile713Val) c.2131A>G (p.Ile711Val) c.2128A>G (p.Ile710Val) c.2122A>G (p.Ile708Val) c.2113A>G (p.Ile705Val) c.2110A>G (p.Ile704Val) c.1996A>G (p.Ile666Val) c.1903A>G (p.Ile635Val) n.515+2587T>C n.722+2587T>C c.2191A>G (p.Ile731Val) c.1888A>G (p.Ile630Val) c.2116A>G (p.Ile706Val) n.4604A>G n.5260A>G n.5720A>G | |
7 | g.148807672T>G | CA369711789 | EZH2 | n.4130A>C c.*1292A>C (n.*1292A>C) c.*1126A>C (n.*1126A>C) n.3949A>C n.4217A>C n.2546A>C n.2608A>C c.2230A>C (p.Ile744Leu) c.2098A>C (p.Ile700Leu) c.2215A>C (p.Ile739Leu) c.2062A>C (p.Ile688Leu) c.2188A>C (p.Ile730Leu) c.*2220A>C (n.*2220A>C) c.2239A>C (p.Ile747Leu) c.2212A>C (p.Ile738Leu) c.2086A>C (p.Ile696Leu) c.2254A>C (p.Ile752Leu) c.2227A>C (p.Ile743Leu) c.2206A>C (p.Ile736Leu) c.2203A>C (p.Ile735Leu) c.2164A>C (p.Ile722Leu) c.2137A>C (p.Ile713Leu) c.2131A>C (p.Ile711Leu) c.2128A>C (p.Ile710Leu) c.2122A>C (p.Ile708Leu) c.2113A>C (p.Ile705Leu) c.2110A>C (p.Ile704Leu) c.1996A>C (p.Ile666Leu) c.1903A>C (p.Ile635Leu) n.515+2587T>G n.722+2587T>G c.2191A>C (p.Ile731Leu) c.1888A>C (p.Ile630Leu) c.2116A>C (p.Ile706Leu) n.4604A>C n.5260A>C n.5720A>C | |
7 | g.148807673G>A | CA458345621 | EZH2 | n.4129C>T c.*1291C>T (n.*1291C>T) c.*1125C>T (n.*1125C>T) n.3948C>T n.4216C>T n.2545C>T n.2607C>T c.2229C>T (p.Gly743=) c.2097C>T (p.Gly699=) c.2214C>T (p.Gly738=) c.2061C>T (p.Gly687=) c.2187C>T (p.Gly729=) c.*2219C>T (n.*2219C>T) c.2238C>T (p.Gly746=) c.2211C>T (p.Gly737=) c.2085C>T (p.Gly695=) c.2253C>T (p.Gly751=) c.2226C>T (p.Gly742=) c.2205C>T (p.Gly735=) c.2202C>T (p.Gly734=) c.2163C>T (p.Gly721=) c.2136C>T (p.Gly712=) c.2130C>T (p.Gly710=) c.2127C>T (p.Gly709=) c.2121C>T (p.Gly707=) c.2112C>T (p.Gly704=) c.2109C>T (p.Gly703=) c.1995C>T (p.Gly665=) c.1902C>T (p.Gly634=) n.515+2588G>A n.722+2588G>A c.2190C>T (p.Gly730=) c.1887C>T (p.Gly629=) c.2115C>T (p.Gly705=) n.4603C>T n.5259C>T n.5719C>T | dbSNP gnomAD v4 |
7 | g.148807673G>C | CA458345622 | EZH2 | n.4129C>G c.*1291C>G (n.*1291C>G) c.*1125C>G (n.*1125C>G) n.3948C>G n.4216C>G n.2545C>G n.2607C>G c.2229C>G (p.Gly743=) c.2097C>G (p.Gly699=) c.2214C>G (p.Gly738=) c.2061C>G (p.Gly687=) c.2187C>G (p.Gly729=) c.*2219C>G (n.*2219C>G) c.2238C>G (p.Gly746=) c.2211C>G (p.Gly737=) c.2085C>G (p.Gly695=) c.2253C>G (p.Gly751=) c.2226C>G (p.Gly742=) c.2205C>G (p.Gly735=) c.2202C>G (p.Gly734=) c.2163C>G (p.Gly721=) c.2136C>G (p.Gly712=) c.2130C>G (p.Gly710=) c.2127C>G (p.Gly709=) c.2121C>G (p.Gly707=) c.2112C>G (p.Gly704=) c.2109C>G (p.Gly703=) c.1995C>G (p.Gly665=) c.1902C>G (p.Gly634=) n.515+2588G>C n.722+2588G>C c.2190C>G (p.Gly730=) c.1887C>G (p.Gly629=) c.2115C>G (p.Gly705=) n.4603C>G n.5259C>G n.5719C>G | dbSNP |
7 | g.148807673G>T | CA458345623 | EZH2 | n.4129C>A c.*1291C>A (n.*1291C>A) c.*1125C>A (n.*1125C>A) n.3948C>A n.4216C>A n.2545C>A n.2607C>A c.2229C>A (p.Gly743=) c.2097C>A (p.Gly699=) c.2214C>A (p.Gly738=) c.2061C>A (p.Gly687=) c.2187C>A (p.Gly729=) c.*2219C>A (n.*2219C>A) c.2238C>A (p.Gly746=) c.2211C>A (p.Gly737=) c.2085C>A (p.Gly695=) c.2253C>A (p.Gly751=) c.2226C>A (p.Gly742=) c.2205C>A (p.Gly735=) c.2202C>A (p.Gly734=) c.2163C>A (p.Gly721=) c.2136C>A (p.Gly712=) c.2130C>A (p.Gly710=) c.2127C>A (p.Gly709=) c.2121C>A (p.Gly707=) c.2112C>A (p.Gly704=) c.2109C>A (p.Gly703=) c.1995C>A (p.Gly665=) c.1902C>A (p.Gly634=) n.515+2588G>T n.722+2588G>T c.2190C>A (p.Gly730=) c.1887C>A (p.Gly629=) c.2115C>A (p.Gly705=) n.4603C>A n.5259C>A n.5719C>A | gnomAD v4 |
7 | g.148807675_148807676insCCCGCC | CA645563926 | EZH2 | n.4129_4130insGGGGGC c.*1291_*1292insGGGGGC (n.*1291_*1292insGGGGGC) c.*1125_*1126insGGGGGC (n.*1125_*1126insGGGGGC) n.3948_3949insGGGGGC n.4216_4217insGGGGGC n.2545_2546insGGGGGC n.2607_2608insGGGGGC c.2229_2230insGGGGGC (p.Gly743_Ile744insGlyGly) c.2097_2098insGGGGGC (p.Gly699_Ile700insGlyGly) c.2214_2215insGGGGGC (p.Gly738_Ile739insGlyGly) c.2061_2062insGGGGGC (p.Gly687_Ile688insGlyGly) c.2187_2188insGGGGGC (p.Gly729_Ile730insGlyGly) c.*2219_*2220insGGGGGC (n.*2219_*2220insGGGGGC) c.2238_2239insGGGGGC (p.Gly746_Ile747insGlyGly) c.2211_2212insGGGGGC (p.Gly737_Ile738insGlyGly) c.2085_2086insGGGGGC (p.Gly695_Ile696insGlyGly) c.2253_2254insGGGGGC (p.Gly751_Ile752insGlyGly) c.2226_2227insGGGGGC (p.Gly742_Ile743insGlyGly) c.2205_2206insGGGGGC (p.Gly735_Ile736insGlyGly) c.2202_2203insGGGGGC (p.Gly734_Ile735insGlyGly) c.2163_2164insGGGGGC (p.Gly721_Ile722insGlyGly) c.2136_2137insGGGGGC (p.Gly712_Ile713insGlyGly) c.2130_2131insGGGGGC (p.Gly710_Ile711insGlyGly) c.2127_2128insGGGGGC (p.Gly709_Ile710insGlyGly) c.2121_2122insGGGGGC (p.Gly707_Ile708insGlyGly) c.2112_2113insGGGGGC (p.Gly704_Ile705insGlyGly) c.2109_2110insGGGGGC (p.Gly703_Ile704insGlyGly) c.1995_1996insGGGGGC (p.Gly665_Ile666insGlyGly) c.1902_1903insGGGGGC (p.Gly634_Ile635insGlyGly) n.515+2590_515+2591insCCCGCC n.722+2590_722+2591insCCCGCC c.2190_2191insGGGGGC (p.Gly730_Ile731insGlyGly) c.1887_1888insGGGGGC (p.Gly629_Ile630insGlyGly) c.2115_2116insGGGGGC (p.Gly705_Ile706insGlyGly) n.4603_4604insGGGGGC n.5259_5260insGGGGGC n.5719_5720insGGGGGC | COSMIC |
7 | g.148807674C>A | CA369711791 | EZH2 | n.4128G>T c.*1290G>T (n.*1290G>T) c.*1124G>T (n.*1124G>T) n.3947G>T n.4215G>T n.2544G>T n.2606G>T c.2228G>T (p.Gly743Val) c.2096G>T (p.Gly699Val) c.2213G>T (p.Gly738Val) c.2060G>T (p.Gly687Val) c.2186G>T (p.Gly729Val) c.*2218G>T (n.*2218G>T) c.2237G>T (p.Gly746Val) c.2210G>T (p.Gly737Val) c.2084G>T (p.Gly695Val) c.2252G>T (p.Gly751Val) c.2225G>T (p.Gly742Val) c.2204G>T (p.Gly735Val) c.2201G>T (p.Gly734Val) c.2162G>T (p.Gly721Val) c.2135G>T (p.Gly712Val) c.2129G>T (p.Gly710Val) c.2126G>T (p.Gly709Val) c.2120G>T (p.Gly707Val) c.2111G>T (p.Gly704Val) c.2108G>T (p.Gly703Val) c.1994G>T (p.Gly665Val) c.1901G>T (p.Gly634Val) n.515+2589C>A n.722+2589C>A c.2189G>T (p.Gly730Val) c.1886G>T (p.Gly629Val) c.2114G>T (p.Gly705Val) n.4602G>T n.5258G>T n.5718G>T | dbSNP gnomAD v4 |
7 | g.148807674C>G | CA369711792 | EZH2 | n.4128G>C c.*1290G>C (n.*1290G>C) c.*1124G>C (n.*1124G>C) n.3947G>C n.4215G>C n.2544G>C n.2606G>C c.2228G>C (p.Gly743Ala) c.2096G>C (p.Gly699Ala) c.2213G>C (p.Gly738Ala) c.2060G>C (p.Gly687Ala) c.2186G>C (p.Gly729Ala) c.*2218G>C (n.*2218G>C) c.2237G>C (p.Gly746Ala) c.2210G>C (p.Gly737Ala) c.2084G>C (p.Gly695Ala) c.2252G>C (p.Gly751Ala) c.2225G>C (p.Gly742Ala) c.2204G>C (p.Gly735Ala) c.2201G>C (p.Gly734Ala) c.2162G>C (p.Gly721Ala) c.2135G>C (p.Gly712Ala) c.2129G>C (p.Gly710Ala) c.2126G>C (p.Gly709Ala) c.2120G>C (p.Gly707Ala) c.2111G>C (p.Gly704Ala) c.2108G>C (p.Gly703Ala) c.1994G>C (p.Gly665Ala) c.1901G>C (p.Gly634Ala) n.515+2589C>G n.722+2589C>G c.2189G>C (p.Gly730Ala) c.1886G>C (p.Gly629Ala) c.2114G>C (p.Gly705Ala) n.4602G>C n.5258G>C n.5718G>C | |
7 | g.148807674C>T | CA369711793 | EZH2 | n.4128G>A c.*1290G>A (n.*1290G>A) c.*1124G>A (n.*1124G>A) n.3947G>A n.4215G>A n.2544G>A n.2606G>A c.2228G>A (p.Gly743Asp) c.2096G>A (p.Gly699Asp) c.2213G>A (p.Gly738Asp) c.2060G>A (p.Gly687Asp) c.2186G>A (p.Gly729Asp) c.*2218G>A (n.*2218G>A) c.2237G>A (p.Gly746Asp) c.2210G>A (p.Gly737Asp) c.2084G>A (p.Gly695Asp) c.2252G>A (p.Gly751Asp) c.2225G>A (p.Gly742Asp) c.2204G>A (p.Gly735Asp) c.2201G>A (p.Gly734Asp) c.2162G>A (p.Gly721Asp) c.2135G>A (p.Gly712Asp) c.2129G>A (p.Gly710Asp) c.2126G>A (p.Gly709Asp) c.2120G>A (p.Gly707Asp) c.2111G>A (p.Gly704Asp) c.2108G>A (p.Gly703Asp) c.1994G>A (p.Gly665Asp) c.1901G>A (p.Gly634Asp) n.515+2589C>T n.722+2589C>T c.2189G>A (p.Gly730Asp) c.1886G>A (p.Gly629Asp) c.2114G>A (p.Gly705Asp) n.4602G>A n.5258G>A n.5718G>A | dbSNP gnomAD v4 |
7 | g.148807674_148807675insACC | CA645563928 | EZH2 | n.4128_4129insGTG c.*1290_*1291insGTG (n.*1290_*1291insGTG) c.*1124_*1125insGTG (n.*1124_*1125insGTG) n.3947_3948insGTG n.4215_4216insGTG n.2544_2545insGTG n.2606_2607insGTG c.2228_2229insGTG (p.Gly743_Ile744insCys) c.2096_2097insGTG (p.Gly699_Ile700insCys) c.2213_2214insGTG (p.Gly738_Ile739insCys) c.2060_2061insGTG (p.Gly687_Ile688insCys) c.2186_2187insGTG (p.Gly729_Ile730insCys) c.*2218_*2219insGTG (n.*2218_*2219insGTG) c.2237_2238insGTG (p.Gly746_Ile747insCys) c.2210_2211insGTG (p.Gly737_Ile738insCys) c.2084_2085insGTG (p.Gly695_Ile696insCys) c.2252_2253insGTG (p.Gly751_Ile752insCys) c.2225_2226insGTG (p.Gly742_Ile743insCys) c.2204_2205insGTG (p.Gly735_Ile736insCys) c.2201_2202insGTG (p.Gly734_Ile735insCys) c.2162_2163insGTG (p.Gly721_Ile722insCys) c.2135_2136insGTG (p.Gly712_Ile713insCys) c.2129_2130insGTG (p.Gly710_Ile711insCys) c.2126_2127insGTG (p.Gly709_Ile710insCys) c.2120_2121insGTG (p.Gly707_Ile708insCys) c.2111_2112insGTG (p.Gly704_Ile705insCys) c.2108_2109insGTG (p.Gly703_Ile704insCys) c.1994_1995insGTG (p.Gly665_Ile666insCys) c.1901_1902insGTG (p.Gly634_Ile635insCys) n.515+2589_515+2590insACC n.722+2589_722+2590insACC c.2189_2190insGTG (p.Gly730_Ile731insCys) c.1886_1887insGTG (p.Gly629_Ile630insCys) c.2114_2115insGTG (p.Gly705_Ile706insCys) n.4602_4603insGTG n.5258_5259insGTG n.5718_5719insGTG | COSMIC |
7 | g.148807674_148807675insGGGGCC | CA645563929 | EZH2 | n.4128_4129insGCCCCG c.*1290_*1291insGCCCCG (n.*1290_*1291insGCCCCG) c.*1124_*1125insGCCCCG (n.*1124_*1125insGCCCCG) n.3947_3948insGCCCCG n.4215_4216insGCCCCG n.2544_2545insGCCCCG n.2606_2607insGCCCCG c.2228_2229insGCCCCG (p.Gly743_Ile744insProArg) c.2096_2097insGCCCCG (p.Gly699_Ile700insProArg) c.2213_2214insGCCCCG (p.Gly738_Ile739insProArg) c.2060_2061insGCCCCG (p.Gly687_Ile688insProArg) c.2186_2187insGCCCCG (p.Gly729_Ile730insProArg) c.*2218_*2219insGCCCCG (n.*2218_*2219insGCCCCG) c.2237_2238insGCCCCG (p.Gly746_Ile747insProArg) c.2210_2211insGCCCCG (p.Gly737_Ile738insProArg) c.2084_2085insGCCCCG (p.Gly695_Ile696insProArg) c.2252_2253insGCCCCG (p.Gly751_Ile752insProArg) c.2225_2226insGCCCCG (p.Gly742_Ile743insProArg) c.2204_2205insGCCCCG (p.Gly735_Ile736insProArg) c.2201_2202insGCCCCG (p.Gly734_Ile735insProArg) c.2162_2163insGCCCCG (p.Gly721_Ile722insProArg) c.2135_2136insGCCCCG (p.Gly712_Ile713insProArg) c.2129_2130insGCCCCG (p.Gly710_Ile711insProArg) c.2126_2127insGCCCCG (p.Gly709_Ile710insProArg) c.2120_2121insGCCCCG (p.Gly707_Ile708insProArg) c.2111_2112insGCCCCG (p.Gly704_Ile705insProArg) c.2108_2109insGCCCCG (p.Gly703_Ile704insProArg) c.1994_1995insGCCCCG (p.Gly665_Ile666insProArg) c.1901_1902insGCCCCG (p.Gly634_Ile635insProArg) n.515+2589_515+2590insGGGGCC n.722+2589_722+2590insGGGGCC c.2189_2190insGCCCCG (p.Gly730_Ile731insProArg) c.1886_1887insGCCCCG (p.Gly629_Ile630insProArg) c.2114_2115insGCCCCG (p.Gly705_Ile706insProArg) n.4602_4603insGCCCCG n.5258_5259insGCCCCG n.5718_5719insGCCCCG | COSMIC |
7 | g.148807676_148807677insGGGCCCG | CA645563927 | EZH2 | n.4128_4129insGCCCCGG c.*1290_*1291insGCCCCGG (n.*1290_*1291insGCCCCGG) c.*1124_*1125insGCCCCGG (n.*1124_*1125insGCCCCGG) n.3947_3948insGCCCCGG n.4215_4216insGCCCCGG n.2544_2545insGCCCCGG n.2606_2607insGCCCCGG c.2228_2229insGCCCCGG (p.Ile744ProfsTer21) c.2096_2097insGCCCCGG (p.Ile700ProfsTer21) c.2213_2214insGCCCCGG (p.Ile739ProfsTer21) c.2060_2061insGCCCCGG (p.Ile688ProfsTer21) c.2186_2187insGCCCCGG (p.Ile730ProfsTer21) c.*2218_*2219insGCCCCGG (n.*2218_*2219insGCCCCGG) c.2237_2238insGCCCCGG (p.Ile747ProfsTer21) c.2210_2211insGCCCCGG (p.Ile738ProfsTer21) c.2084_2085insGCCCCGG (p.Ile696ProfsTer21) c.2252_2253insGCCCCGG (p.Ile752ProfsTer21) c.2225_2226insGCCCCGG (p.Ile743ProfsTer21) c.2204_2205insGCCCCGG (p.Ile736ProfsTer21) c.2201_2202insGCCCCGG (p.Ile735ProfsTer21) c.2162_2163insGCCCCGG (p.Ile722ProfsTer21) c.2135_2136insGCCCCGG (p.Ile713ProfsTer21) c.2129_2130insGCCCCGG (p.Ile711ProfsTer21) c.2126_2127insGCCCCGG (p.Ile710ProfsTer21) c.2120_2121insGCCCCGG (p.Ile708ProfsTer21) c.2111_2112insGCCCCGG (p.Ile705ProfsTer21) c.2108_2109insGCCCCGG (p.Ile704ProfsTer21) c.1994_1995insGCCCCGG (p.Ile666ProfsTer21) c.1901_1902insGCCCCGG (p.Ile635ProfsTer21) n.515+2591_515+2592insGGGCCCG n.722+2591_722+2592insGGGCCCG c.2189_2190insGCCCCGG (p.Ile731ProfsTer21) c.1886_1887insGCCCCGG (p.Ile630ProfsTer21) c.2114_2115insGCCCCGG (p.Ile706ProfsTer21) n.4602_4603insGCCCCGG n.5258_5259insGCCCCGG n.5718_5719insGCCCCGG | COSMIC COSMIC |
7 | g.148807675C>A | CA369711794 | EZH2 | n.4127G>T c.*1289G>T (n.*1289G>T) c.*1123G>T (n.*1123G>T) n.3946G>T n.4214G>T n.2543G>T n.2605G>T c.2227G>T (p.Gly743Cys) c.2095G>T (p.Gly699Cys) c.2212G>T (p.Gly738Cys) c.2059G>T (p.Gly687Cys) c.2185G>T (p.Gly729Cys) c.*2217G>T (n.*2217G>T) c.2236G>T (p.Gly746Cys) c.2209G>T (p.Gly737Cys) c.2083G>T (p.Gly695Cys) c.2251G>T (p.Gly751Cys) c.2224G>T (p.Gly742Cys) c.2203G>T (p.Gly735Cys) c.2200G>T (p.Gly734Cys) c.2161G>T (p.Gly721Cys) c.2134G>T (p.Gly712Cys) c.2128G>T (p.Gly710Cys) c.2125G>T (p.Gly709Cys) c.2119G>T (p.Gly707Cys) c.2110G>T (p.Gly704Cys) c.2107G>T (p.Gly703Cys) c.1993G>T (p.Gly665Cys) c.1900G>T (p.Gly634Cys) n.515+2590C>A n.722+2590C>A c.2188G>T (p.Gly730Cys) c.1885G>T (p.Gly629Cys) c.2113G>T (p.Gly705Cys) n.4601G>T n.5257G>T n.5717G>T | gnomAD v4 |
7 | g.148807675C>G | CA369711795 | EZH2 | n.4127G>C c.*1289G>C (n.*1289G>C) c.*1123G>C (n.*1123G>C) n.3946G>C n.4214G>C n.2543G>C n.2605G>C c.2227G>C (p.Gly743Arg) c.2095G>C (p.Gly699Arg) c.2212G>C (p.Gly738Arg) c.2059G>C (p.Gly687Arg) c.2185G>C (p.Gly729Arg) c.*2217G>C (n.*2217G>C) c.2236G>C (p.Gly746Arg) c.2209G>C (p.Gly737Arg) c.2083G>C (p.Gly695Arg) c.2251G>C (p.Gly751Arg) c.2224G>C (p.Gly742Arg) c.2203G>C (p.Gly735Arg) c.2200G>C (p.Gly734Arg) c.2161G>C (p.Gly721Arg) c.2134G>C (p.Gly712Arg) c.2128G>C (p.Gly710Arg) c.2125G>C (p.Gly709Arg) c.2119G>C (p.Gly707Arg) c.2110G>C (p.Gly704Arg) c.2107G>C (p.Gly703Arg) c.1993G>C (p.Gly665Arg) c.1900G>C (p.Gly634Arg) n.515+2590C>G n.722+2590C>G c.2188G>C (p.Gly730Arg) c.1885G>C (p.Gly629Arg) c.2113G>C (p.Gly705Arg) n.4601G>C n.5257G>C n.5717G>C | gnomAD v4 |
7 | g.148807675C>T | CA369711796 | EZH2 | n.4127G>A c.*1289G>A (n.*1289G>A) c.*1123G>A (n.*1123G>A) n.3946G>A n.4214G>A n.2543G>A n.2605G>A c.2227G>A (p.Gly743Ser) c.2095G>A (p.Gly699Ser) c.2212G>A (p.Gly738Ser) c.2059G>A (p.Gly687Ser) c.2185G>A (p.Gly729Ser) c.*2217G>A (n.*2217G>A) c.2236G>A (p.Gly746Ser) c.2209G>A (p.Gly737Ser) c.2083G>A (p.Gly695Ser) c.2251G>A (p.Gly751Ser) c.2224G>A (p.Gly742Ser) c.2203G>A (p.Gly735Ser) c.2200G>A (p.Gly734Ser) c.2161G>A (p.Gly721Ser) c.2134G>A (p.Gly712Ser) c.2128G>A (p.Gly710Ser) c.2125G>A (p.Gly709Ser) c.2119G>A (p.Gly707Ser) c.2110G>A (p.Gly704Ser) c.2107G>A (p.Gly703Ser) c.1993G>A (p.Gly665Ser) c.1900G>A (p.Gly634Ser) n.515+2590C>T n.722+2590C>T c.2188G>A (p.Gly730Ser) c.1885G>A (p.Gly629Ser) c.2113G>A (p.Gly705Ser) n.4601G>A n.5257G>A n.5717G>A | gnomAD v4 |
7 | g.148807676_148807677insGGGACG | CA645563930 | EZH2 | n.4127_4128insTCCCCG c.*1289_*1290insTCCCCG (n.*1289_*1290insTCCCCG) c.*1123_*1124insTCCCCG (n.*1123_*1124insTCCCCG) n.3946_3947insTCCCCG n.4214_4215insTCCCCG n.2543_2544insTCCCCG n.2605_2606insTCCCCG c.2227_2228insTCCCCG (p.Val742_Gly743insValPro) c.2095_2096insTCCCCG (p.Val698_Gly699insValPro) c.2212_2213insTCCCCG (p.Val737_Gly738insValPro) c.2059_2060insTCCCCG (p.Val686_Gly687insValPro) c.2185_2186insTCCCCG (p.Val728_Gly729insValPro) c.*2217_*2218insTCCCCG (n.*2217_*2218insTCCCCG) c.2236_2237insTCCCCG (p.Val745_Gly746insValPro) c.2209_2210insTCCCCG (p.Val736_Gly737insValPro) c.2083_2084insTCCCCG (p.Val694_Gly695insValPro) c.2251_2252insTCCCCG (p.Val750_Gly751insValPro) c.2224_2225insTCCCCG (p.Val741_Gly742insValPro) c.2203_2204insTCCCCG (p.Val734_Gly735insValPro) c.2200_2201insTCCCCG (p.Val733_Gly734insValPro) c.2161_2162insTCCCCG (p.Val720_Gly721insValPro) c.2134_2135insTCCCCG (p.Val711_Gly712insValPro) c.2128_2129insTCCCCG (p.Val709_Gly710insValPro) c.2125_2126insTCCCCG (p.Val708_Gly709insValPro) c.2119_2120insTCCCCG (p.Val706_Gly707insValPro) c.2110_2111insTCCCCG (p.Val703_Gly704insValPro) c.2107_2108insTCCCCG (p.Val702_Gly703insValPro) c.1993_1994insTCCCCG (p.Val664_Gly665insValPro) c.1900_1901insTCCCCG (p.Val633_Gly634insValPro) n.515+2591_515+2592insGGGACG n.722+2591_722+2592insGGGACG c.2188_2189insTCCCCG (p.Val729_Gly730insValPro) c.1885_1886insTCCCCG (p.Val628_Gly629insValPro) c.2113_2114insTCCCCG (p.Val704_Gly705insValPro) n.4601_4602insTCCCCG n.5257_5258insTCCCCG n.5717_5718insTCCCCG | COSMIC |
7 | g.148807676G>A | CA4547659 | EZH2 | n.4126C>T c.*1288C>T (n.*1288C>T) c.*1122C>T (n.*1122C>T) n.3945C>T n.4213C>T n.2542C>T n.2604C>T c.2226C>T (p.Val742=) c.2094C>T (p.Val698=) c.2211C>T (p.Val737=) c.2058C>T (p.Val686=) c.2184C>T (p.Val728=) c.*2216C>T (n.*2216C>T) c.2235C>T (p.Val745=) c.2208C>T (p.Val736=) c.2082C>T (p.Val694=) c.2250C>T (p.Val750=) c.2223C>T (p.Val741=) c.2202C>T (p.Val734=) c.2199C>T (p.Val733=) c.2160C>T (p.Val720=) c.2133C>T (p.Val711=) c.2127C>T (p.Val709=) c.2124C>T (p.Val708=) c.2118C>T (p.Val706=) c.2109C>T (p.Val703=) c.2106C>T (p.Val702=) c.1992C>T (p.Val664=) c.1899C>T (p.Val633=) n.515+2591G>A n.722+2591G>A c.2187C>T (p.Val729=) c.1884C>T (p.Val628=) c.2112C>T (p.Val704=) n.4600C>T n.5256C>T n.5716C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.148807676G>C | CA458345625 | EZH2 | n.4126C>G c.*1288C>G (n.*1288C>G) c.*1122C>G (n.*1122C>G) n.3945C>G n.4213C>G n.2542C>G n.2604C>G c.2226C>G (p.Val742=) c.2094C>G (p.Val698=) c.2211C>G (p.Val737=) c.2058C>G (p.Val686=) c.2184C>G (p.Val728=) c.*2216C>G (n.*2216C>G) c.2235C>G (p.Val745=) c.2208C>G (p.Val736=) c.2082C>G (p.Val694=) c.2250C>G (p.Val750=) c.2223C>G (p.Val741=) c.2202C>G (p.Val734=) c.2199C>G (p.Val733=) c.2160C>G (p.Val720=) c.2133C>G (p.Val711=) c.2127C>G (p.Val709=) c.2124C>G (p.Val708=) c.2118C>G (p.Val706=) c.2109C>G (p.Val703=) c.2106C>G (p.Val702=) c.1992C>G (p.Val664=) c.1899C>G (p.Val633=) n.515+2591G>C n.722+2591G>C c.2187C>G (p.Val729=) c.1884C>G (p.Val628=) c.2112C>G (p.Val704=) n.4600C>G n.5256C>G n.5716C>G | gnomAD v4 |
7 | g.148807676G= | CA1751419307 | EZH2 | n.4126C= c.*1288C= (n.*1288C=) c.*1122C= (n.*1122C=) n.3945C= n.4213C= n.2542C= n.2604C= c.2226C= (p.Val742=) c.2094C= (p.Val698=) c.2211C= (p.Val737=) c.2058C= (p.Val686=) c.2184C= (p.Val728=) c.*2216C= (n.*2216C=) c.2235C= (p.Val745=) c.2208C= (p.Val736=) c.2082C= (p.Val694=) c.2250C= (p.Val750=) c.2223C= (p.Val741=) c.2202C= (p.Val734=) c.2199C= (p.Val733=) c.2160C= (p.Val720=) c.2133C= (p.Val711=) c.2127C= (p.Val709=) c.2124C= (p.Val708=) c.2118C= (p.Val706=) c.2109C= (p.Val703=) c.2106C= (p.Val702=) c.1992C= (p.Val664=) c.1899C= (p.Val633=) n.515+2591G= n.722+2591G= c.2187C= (p.Val729=) c.1884C= (p.Val628=) c.2112C= (p.Val704=) n.4600C= n.5256C= n.5716C= | |
7 | g.148807676G>T | CA458345624 | EZH2 | n.4126C>A c.*1288C>A (n.*1288C>A) c.*1122C>A (n.*1122C>A) n.3945C>A n.4213C>A n.2542C>A n.2604C>A c.2226C>A (p.Val742=) c.2094C>A (p.Val698=) c.2211C>A (p.Val737=) c.2058C>A (p.Val686=) c.2184C>A (p.Val728=) c.*2216C>A (n.*2216C>A) c.2235C>A (p.Val745=) c.2208C>A (p.Val736=) c.2082C>A (p.Val694=) c.2250C>A (p.Val750=) c.2223C>A (p.Val741=) c.2202C>A (p.Val734=) c.2199C>A (p.Val733=) c.2160C>A (p.Val720=) c.2133C>A (p.Val711=) c.2127C>A (p.Val709=) c.2124C>A (p.Val708=) c.2118C>A (p.Val706=) c.2109C>A (p.Val703=) c.2106C>A (p.Val702=) c.1992C>A (p.Val664=) c.1899C>A (p.Val633=) n.515+2591G>T n.722+2591G>T c.2187C>A (p.Val729=) c.1884C>A (p.Val628=) c.2112C>A (p.Val704=) n.4600C>A n.5256C>A n.5716C>A | gnomAD v4 |
7 | g.148807676_148807677insGTTTTG | CA645563932 | EZH2 | n.4126_4127insAAAACC c.*1288_*1289insAAAACC (n.*1288_*1289insAAAACC) c.*1122_*1123insAAAACC (n.*1122_*1123insAAAACC) n.3945_3946insAAAACC n.4213_4214insAAAACC n.2542_2543insAAAACC n.2604_2605insAAAACC c.2226_2227insAAAACC (p.Val742_Gly743insLysThr) c.2094_2095insAAAACC (p.Val698_Gly699insLysThr) c.2211_2212insAAAACC (p.Val737_Gly738insLysThr) c.2058_2059insAAAACC (p.Val686_Gly687insLysThr) c.2184_2185insAAAACC (p.Val728_Gly729insLysThr) c.*2216_*2217insAAAACC (n.*2216_*2217insAAAACC) c.2235_2236insAAAACC (p.Val745_Gly746insLysThr) c.2208_2209insAAAACC (p.Val736_Gly737insLysThr) c.2082_2083insAAAACC (p.Val694_Gly695insLysThr) c.2250_2251insAAAACC (p.Val750_Gly751insLysThr) c.2223_2224insAAAACC (p.Val741_Gly742insLysThr) c.2202_2203insAAAACC (p.Val734_Gly735insLysThr) c.2199_2200insAAAACC (p.Val733_Gly734insLysThr) c.2160_2161insAAAACC (p.Val720_Gly721insLysThr) c.2133_2134insAAAACC (p.Val711_Gly712insLysThr) c.2127_2128insAAAACC (p.Val709_Gly710insLysThr) c.2124_2125insAAAACC (p.Val708_Gly709insLysThr) c.2118_2119insAAAACC (p.Val706_Gly707insLysThr) c.2109_2110insAAAACC (p.Val703_Gly704insLysThr) c.2106_2107insAAAACC (p.Val702_Gly703insLysThr) c.1992_1993insAAAACC (p.Val664_Gly665insLysThr) c.1899_1900insAAAACC (p.Val633_Gly634insLysThr) n.515+2591_515+2592insGTTTTG n.722+2591_722+2592insGTTTTG c.2187_2188insAAAACC (p.Val729_Gly730insLysThr) c.1884_1885insAAAACC (p.Val628_Gly629insLysThr) c.2112_2113insAAAACC (p.Val704_Gly705insLysThr) n.4600_4601insAAAACC n.5256_5257insAAAACC n.5716_5717insAAAACC | COSMIC |
7 | g.148807677_148807678insGGGGATTGA | CA645563931 | EZH2 | n.4126_4127insAATCCCCTC c.*1288_*1289insAATCCCCTC (n.*1288_*1289insAATCCCCTC) c.*1122_*1123insAATCCCCTC (n.*1122_*1123insAATCCCCTC) n.3945_3946insAATCCCCTC n.4213_4214insAATCCCCTC n.2542_2543insAATCCCCTC n.2604_2605insAATCCCCTC c.2226_2227insAATCCCCTC (p.Val742_Gly743insAsnProLeu) c.2094_2095insAATCCCCTC (p.Val698_Gly699insAsnProLeu) c.2211_2212insAATCCCCTC (p.Val737_Gly738insAsnProLeu) c.2058_2059insAATCCCCTC (p.Val686_Gly687insAsnProLeu) c.2184_2185insAATCCCCTC (p.Val728_Gly729insAsnProLeu) c.*2216_*2217insAATCCCCTC (n.*2216_*2217insAATCCCCTC) c.2235_2236insAATCCCCTC (p.Val745_Gly746insAsnProLeu) c.2208_2209insAATCCCCTC (p.Val736_Gly737insAsnProLeu) c.2082_2083insAATCCCCTC (p.Val694_Gly695insAsnProLeu) c.2250_2251insAATCCCCTC (p.Val750_Gly751insAsnProLeu) c.2223_2224insAATCCCCTC (p.Val741_Gly742insAsnProLeu) c.2202_2203insAATCCCCTC (p.Val734_Gly735insAsnProLeu) c.2199_2200insAATCCCCTC (p.Val733_Gly734insAsnProLeu) c.2160_2161insAATCCCCTC (p.Val720_Gly721insAsnProLeu) c.2133_2134insAATCCCCTC (p.Val711_Gly712insAsnProLeu) c.2127_2128insAATCCCCTC (p.Val709_Gly710insAsnProLeu) c.2124_2125insAATCCCCTC (p.Val708_Gly709insAsnProLeu) c.2118_2119insAATCCCCTC (p.Val706_Gly707insAsnProLeu) c.2109_2110insAATCCCCTC (p.Val703_Gly704insAsnProLeu) c.2106_2107insAATCCCCTC (p.Val702_Gly703insAsnProLeu) c.1992_1993insAATCCCCTC (p.Val664_Gly665insAsnProLeu) c.1899_1900insAATCCCCTC (p.Val633_Gly634insAsnProLeu) n.515+2592_515+2593insGGGGATTGA n.722+2592_722+2593insGGGGATTGA c.2187_2188insAATCCCCTC (p.Val729_Gly730insAsnProLeu) c.1884_1885insAATCCCCTC (p.Val628_Gly629insAsnProLeu) c.2112_2113insAATCCCCTC (p.Val704_Gly705insAsnProLeu) n.4600_4601insAATCCCCTC n.5256_5257insAATCCCCTC n.5716_5717insAATCCCCTC | COSMIC COSMIC |
7 | g.148807677A>C | CA369711798 | EZH2 | n.4125T>G c.*1287T>G (n.*1287T>G) c.*1121T>G (n.*1121T>G) n.3944T>G n.4212T>G n.2541T>G n.2603T>G c.2225T>G (p.Val742Gly) c.2093T>G (p.Val698Gly) c.2210T>G (p.Val737Gly) c.2057T>G (p.Val686Gly) c.2183T>G (p.Val728Gly) c.*2215T>G (n.*2215T>G) c.2234T>G (p.Val745Gly) c.2207T>G (p.Val736Gly) c.2081T>G (p.Val694Gly) c.2249T>G (p.Val750Gly) c.2222T>G (p.Val741Gly) c.2201T>G (p.Val734Gly) c.2198T>G (p.Val733Gly) c.2159T>G (p.Val720Gly) c.2132T>G (p.Val711Gly) c.2126T>G (p.Val709Gly) c.2123T>G (p.Val708Gly) c.2117T>G (p.Val706Gly) c.2108T>G (p.Val703Gly) c.2105T>G (p.Val702Gly) c.1991T>G (p.Val664Gly) c.1898T>G (p.Val633Gly) n.515+2592A>C n.722+2592A>C c.2186T>G (p.Val729Gly) c.1883T>G (p.Val628Gly) c.2111T>G (p.Val704Gly) n.4599T>G n.5255T>G n.5715T>G | |
7 | g.148807677A>G | CA369711797 | EZH2 | n.4125T>C c.*1287T>C (n.*1287T>C) c.*1121T>C (n.*1121T>C) n.3944T>C n.4212T>C n.2541T>C n.2603T>C c.2225T>C (p.Val742Ala) c.2093T>C (p.Val698Ala) c.2210T>C (p.Val737Ala) c.2057T>C (p.Val686Ala) c.2183T>C (p.Val728Ala) c.*2215T>C (n.*2215T>C) c.2234T>C (p.Val745Ala) c.2207T>C (p.Val736Ala) c.2081T>C (p.Val694Ala) c.2249T>C (p.Val750Ala) c.2222T>C (p.Val741Ala) c.2201T>C (p.Val734Ala) c.2198T>C (p.Val733Ala) c.2159T>C (p.Val720Ala) c.2132T>C (p.Val711Ala) c.2126T>C (p.Val709Ala) c.2123T>C (p.Val708Ala) c.2117T>C (p.Val706Ala) c.2108T>C (p.Val703Ala) c.2105T>C (p.Val702Ala) c.1991T>C (p.Val664Ala) c.1898T>C (p.Val633Ala) n.515+2592A>G n.722+2592A>G c.2186T>C (p.Val729Ala) c.1883T>C (p.Val628Ala) c.2111T>C (p.Val704Ala) n.4599T>C n.5255T>C n.5715T>C | gnomAD v4 |
7 | g.148807677A>T | CA369711799 | EZH2 | n.4125T>A c.*1287T>A (n.*1287T>A) c.*1121T>A (n.*1121T>A) n.3944T>A n.4212T>A n.2541T>A n.2603T>A c.2225T>A (p.Val742Asp) c.2093T>A (p.Val698Asp) c.2210T>A (p.Val737Asp) c.2057T>A (p.Val686Asp) c.2183T>A (p.Val728Asp) c.*2215T>A (n.*2215T>A) c.2234T>A (p.Val745Asp) c.2207T>A (p.Val736Asp) c.2081T>A (p.Val694Asp) c.2249T>A (p.Val750Asp) c.2222T>A (p.Val741Asp) c.2201T>A (p.Val734Asp) c.2198T>A (p.Val733Asp) c.2159T>A (p.Val720Asp) c.2132T>A (p.Val711Asp) c.2126T>A (p.Val709Asp) c.2123T>A (p.Val708Asp) c.2117T>A (p.Val706Asp) c.2108T>A (p.Val703Asp) c.2105T>A (p.Val702Asp) c.1991T>A (p.Val664Asp) c.1898T>A (p.Val633Asp) n.515+2592A>T n.722+2592A>T c.2186T>A (p.Val729Asp) c.1883T>A (p.Val628Asp) c.2111T>A (p.Val704Asp) n.4599T>A n.5255T>A n.5715T>A | |
7 | g.148807678C>A | CA369711800 | EZH2 | n.4124G>T c.*1286G>T (n.*1286G>T) c.*1120G>T (n.*1120G>T) n.3943G>T n.4211G>T n.2540G>T n.2602G>T c.2224G>T (p.Val742Phe) c.2092G>T (p.Val698Phe) c.2209G>T (p.Val737Phe) c.2056G>T (p.Val686Phe) c.2182G>T (p.Val728Phe) c.*2214G>T (n.*2214G>T) c.2233G>T (p.Val745Phe) c.2206G>T (p.Val736Phe) c.2080G>T (p.Val694Phe) c.2248G>T (p.Val750Phe) c.2221G>T (p.Val741Phe) c.2200G>T (p.Val734Phe) c.2197G>T (p.Val733Phe) c.2158G>T (p.Val720Phe) c.2131G>T (p.Val711Phe) c.2125G>T (p.Val709Phe) c.2122G>T (p.Val708Phe) c.2116G>T (p.Val706Phe) c.2107G>T (p.Val703Phe) c.2104G>T (p.Val702Phe) c.1990G>T (p.Val664Phe) c.1897G>T (p.Val633Phe) n.515+2593C>A n.722+2593C>A c.2185G>T (p.Val729Phe) c.1882G>T (p.Val628Phe) c.2110G>T (p.Val704Phe) n.4598G>T n.5254G>T n.5714G>T | |
7 | g.148807678C>G | CA369711802 | EZH2 | n.4124G>C c.*1286G>C (n.*1286G>C) c.*1120G>C (n.*1120G>C) n.3943G>C n.4211G>C n.2540G>C n.2602G>C c.2224G>C (p.Val742Leu) c.2092G>C (p.Val698Leu) c.2209G>C (p.Val737Leu) c.2056G>C (p.Val686Leu) c.2182G>C (p.Val728Leu) c.*2214G>C (n.*2214G>C) c.2233G>C (p.Val745Leu) c.2206G>C (p.Val736Leu) c.2080G>C (p.Val694Leu) c.2248G>C (p.Val750Leu) c.2221G>C (p.Val741Leu) c.2200G>C (p.Val734Leu) c.2197G>C (p.Val733Leu) c.2158G>C (p.Val720Leu) c.2131G>C (p.Val711Leu) c.2125G>C (p.Val709Leu) c.2122G>C (p.Val708Leu) c.2116G>C (p.Val706Leu) c.2107G>C (p.Val703Leu) c.2104G>C (p.Val702Leu) c.1990G>C (p.Val664Leu) c.1897G>C (p.Val633Leu) n.515+2593C>G n.722+2593C>G c.2185G>C (p.Val729Leu) c.1882G>C (p.Val628Leu) c.2110G>C (p.Val704Leu) n.4598G>C n.5254G>C n.5714G>C | |
7 | g.148807678C>T | CA369711801 | EZH2 | n.4124G>A c.*1286G>A (n.*1286G>A) c.*1120G>A (n.*1120G>A) n.3943G>A n.4211G>A n.2540G>A n.2602G>A c.2224G>A (p.Val742Ile) c.2092G>A (p.Val698Ile) c.2209G>A (p.Val737Ile) c.2056G>A (p.Val686Ile) c.2182G>A (p.Val728Ile) c.*2214G>A (n.*2214G>A) c.2233G>A (p.Val745Ile) c.2206G>A (p.Val736Ile) c.2080G>A (p.Val694Ile) c.2248G>A (p.Val750Ile) c.2221G>A (p.Val741Ile) c.2200G>A (p.Val734Ile) c.2197G>A (p.Val733Ile) c.2158G>A (p.Val720Ile) c.2131G>A (p.Val711Ile) c.2125G>A (p.Val709Ile) c.2122G>A (p.Val708Ile) c.2116G>A (p.Val706Ile) c.2107G>A (p.Val703Ile) c.2104G>A (p.Val702Ile) c.1990G>A (p.Val664Ile) c.1897G>A (p.Val633Ile) n.515+2593C>T n.722+2593C>T c.2185G>A (p.Val729Ile) c.1882G>A (p.Val628Ile) c.2110G>A (p.Val704Ile) n.4598G>A n.5254G>A n.5714G>A | |
7 | g.148807679A= | CA1751419308 | EZH2 | n.4123T= c.*1285T= (n.*1285T=) c.*1119T= (n.*1119T=) n.3942T= n.4210T= n.2539T= n.2601T= c.2223T= (p.Tyr741=) c.2091T= (p.Tyr697=) c.2208T= (p.Tyr736=) c.2055T= (p.Tyr685=) c.2181T= (p.Tyr727=) c.*2213T= (n.*2213T=) c.2232T= (p.Tyr744=) c.2205T= (p.Tyr735=) c.2079T= (p.Tyr693=) c.2247T= (p.Tyr749=) c.2220T= (p.Tyr740=) c.2199T= (p.Tyr733=) c.2196T= (p.Tyr732=) c.2157T= (p.Tyr719=) c.2130T= (p.Tyr710=) c.2124T= (p.Tyr708=) c.2121T= (p.Tyr707=) c.2115T= (p.Tyr705=) c.2106T= (p.Tyr702=) c.2103T= (p.Tyr701=) c.1989T= (p.Tyr663=) c.1896T= (p.Tyr632=) n.515+2594A= n.722+2594A= c.2184T= (p.Tyr728=) c.1881T= (p.Tyr627=) c.2109T= (p.Tyr703=) n.4597T= n.5253T= n.5713T= | |
7 | g.148807679A>C | CA369711803 | EZH2 | n.4123T>G c.*1285T>G (n.*1285T>G) c.*1119T>G (n.*1119T>G) n.3942T>G n.4210T>G n.2539T>G n.2601T>G c.2223T>G (p.Tyr741Ter) c.2091T>G (p.Tyr697Ter) c.2208T>G (p.Tyr736Ter) c.2055T>G (p.Tyr685Ter) c.2181T>G (p.Tyr727Ter) c.*2213T>G (n.*2213T>G) c.2232T>G (p.Tyr744Ter) c.2205T>G (p.Tyr735Ter) c.2079T>G (p.Tyr693Ter) c.2247T>G (p.Tyr749Ter) c.2220T>G (p.Tyr740Ter) c.2199T>G (p.Tyr733Ter) c.2196T>G (p.Tyr732Ter) c.2157T>G (p.Tyr719Ter) c.2130T>G (p.Tyr710Ter) c.2124T>G (p.Tyr708Ter) c.2121T>G (p.Tyr707Ter) c.2115T>G (p.Tyr705Ter) c.2106T>G (p.Tyr702Ter) c.2103T>G (p.Tyr701Ter) c.1989T>G (p.Tyr663Ter) c.1896T>G (p.Tyr632Ter) n.515+2594A>C n.722+2594A>C c.2184T>G (p.Tyr728Ter) c.1881T>G (p.Tyr627Ter) c.2109T>G (p.Tyr703Ter) n.4597T>G n.5253T>G n.5713T>G | |
7 | g.148807679A>G | CA4547660 | EZH2 | n.4123T>C c.*1285T>C (n.*1285T>C) c.*1119T>C (n.*1119T>C) n.3942T>C n.4210T>C n.2539T>C n.2601T>C c.2223T>C (p.Tyr741=) c.2091T>C (p.Tyr697=) c.2208T>C (p.Tyr736=) c.2055T>C (p.Tyr685=) c.2181T>C (p.Tyr727=) c.*2213T>C (n.*2213T>C) c.2232T>C (p.Tyr744=) c.2205T>C (p.Tyr735=) c.2079T>C (p.Tyr693=) c.2247T>C (p.Tyr749=) c.2220T>C (p.Tyr740=) c.2199T>C (p.Tyr733=) c.2196T>C (p.Tyr732=) c.2157T>C (p.Tyr719=) c.2130T>C (p.Tyr710=) c.2124T>C (p.Tyr708=) c.2121T>C (p.Tyr707=) c.2115T>C (p.Tyr705=) c.2106T>C (p.Tyr702=) c.2103T>C (p.Tyr701=) c.1989T>C (p.Tyr663=) c.1896T>C (p.Tyr632=) n.515+2594A>G n.722+2594A>G c.2184T>C (p.Tyr728=) c.1881T>C (p.Tyr627=) c.2109T>C (p.Tyr703=) n.4597T>C n.5253T>C n.5713T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.148807679A>T | CA369711804 | EZH2 | n.4123T>A c.*1285T>A (n.*1285T>A) c.*1119T>A (n.*1119T>A) n.3942T>A n.4210T>A n.2539T>A n.2601T>A c.2223T>A (p.Tyr741Ter) c.2091T>A (p.Tyr697Ter) c.2208T>A (p.Tyr736Ter) c.2055T>A (p.Tyr685Ter) c.2181T>A (p.Tyr727Ter) c.*2213T>A (n.*2213T>A) c.2232T>A (p.Tyr744Ter) c.2205T>A (p.Tyr735Ter) c.2079T>A (p.Tyr693Ter) c.2247T>A (p.Tyr749Ter) c.2220T>A (p.Tyr740Ter) c.2199T>A (p.Tyr733Ter) c.2196T>A (p.Tyr732Ter) c.2157T>A (p.Tyr719Ter) c.2130T>A (p.Tyr710Ter) c.2124T>A (p.Tyr708Ter) c.2121T>A (p.Tyr707Ter) c.2115T>A (p.Tyr705Ter) c.2106T>A (p.Tyr702Ter) c.2103T>A (p.Tyr701Ter) c.1989T>A (p.Tyr663Ter) c.1896T>A (p.Tyr632Ter) n.515+2594A>T n.722+2594A>T c.2184T>A (p.Tyr728Ter) c.1881T>A (p.Tyr627Ter) c.2109T>A (p.Tyr703Ter) n.4597T>A n.5253T>A n.5713T>A | |
7 | g.148807680T>A | CA369711805 | EZH2 | n.4122A>T c.*1284A>T (n.*1284A>T) c.*1118A>T (n.*1118A>T) n.3941A>T n.4209A>T n.2538A>T n.2600A>T c.2222A>T (p.Tyr741Phe) c.2090A>T (p.Tyr697Phe) c.2207A>T (p.Tyr736Phe) c.2054A>T (p.Tyr685Phe) c.2180A>T (p.Tyr727Phe) c.*2212A>T (n.*2212A>T) c.2231A>T (p.Tyr744Phe) c.2204A>T (p.Tyr735Phe) c.2078A>T (p.Tyr693Phe) c.2246A>T (p.Tyr749Phe) c.2219A>T (p.Tyr740Phe) c.2198A>T (p.Tyr733Phe) c.2195A>T (p.Tyr732Phe) c.2156A>T (p.Tyr719Phe) c.2129A>T (p.Tyr710Phe) c.2123A>T (p.Tyr708Phe) c.2120A>T (p.Tyr707Phe) c.2114A>T (p.Tyr705Phe) c.2105A>T (p.Tyr702Phe) c.2102A>T (p.Tyr701Phe) c.1988A>T (p.Tyr663Phe) c.1895A>T (p.Tyr632Phe) n.515+2595T>A n.722+2595T>A c.2183A>T (p.Tyr728Phe) c.1880A>T (p.Tyr627Phe) c.2108A>T (p.Tyr703Phe) n.4596A>T n.5252A>T n.5712A>T | |
7 | g.148807680T>C | CA369711806 | EZH2 | n.4122A>G c.*1284A>G (n.*1284A>G) c.*1118A>G (n.*1118A>G) n.3941A>G n.4209A>G n.2538A>G n.2600A>G c.2222A>G (p.Tyr741Cys) c.2090A>G (p.Tyr697Cys) c.2207A>G (p.Tyr736Cys) c.2054A>G (p.Tyr685Cys) c.2180A>G (p.Tyr727Cys) c.*2212A>G (n.*2212A>G) c.2231A>G (p.Tyr744Cys) c.2204A>G (p.Tyr735Cys) c.2078A>G (p.Tyr693Cys) c.2246A>G (p.Tyr749Cys) c.2219A>G (p.Tyr740Cys) c.2198A>G (p.Tyr733Cys) c.2195A>G (p.Tyr732Cys) c.2156A>G (p.Tyr719Cys) c.2129A>G (p.Tyr710Cys) c.2123A>G (p.Tyr708Cys) c.2120A>G (p.Tyr707Cys) c.2114A>G (p.Tyr705Cys) c.2105A>G (p.Tyr702Cys) c.2102A>G (p.Tyr701Cys) c.1988A>G (p.Tyr663Cys) c.1895A>G (p.Tyr632Cys) n.515+2595T>C n.722+2595T>C c.2183A>G (p.Tyr728Cys) c.1880A>G (p.Tyr627Cys) c.2108A>G (p.Tyr703Cys) n.4596A>G n.5252A>G n.5712A>G | gnomAD v4 |
7 | g.148807680T>G | CA369711807 | EZH2 | n.4122A>C c.*1284A>C (n.*1284A>C) c.*1118A>C (n.*1118A>C) n.3941A>C n.4209A>C n.2538A>C n.2600A>C c.2222A>C (p.Tyr741Ser) c.2090A>C (p.Tyr697Ser) c.2207A>C (p.Tyr736Ser) c.2054A>C (p.Tyr685Ser) c.2180A>C (p.Tyr727Ser) c.*2212A>C (n.*2212A>C) c.2231A>C (p.Tyr744Ser) c.2204A>C (p.Tyr735Ser) c.2078A>C (p.Tyr693Ser) c.2246A>C (p.Tyr749Ser) c.2219A>C (p.Tyr740Ser) c.2198A>C (p.Tyr733Ser) c.2195A>C (p.Tyr732Ser) c.2156A>C (p.Tyr719Ser) c.2129A>C (p.Tyr710Ser) c.2123A>C (p.Tyr708Ser) c.2120A>C (p.Tyr707Ser) c.2114A>C (p.Tyr705Ser) c.2105A>C (p.Tyr702Ser) c.2102A>C (p.Tyr701Ser) c.1988A>C (p.Tyr663Ser) c.1895A>C (p.Tyr632Ser) n.515+2595T>G n.722+2595T>G c.2183A>C (p.Tyr728Ser) c.1880A>C (p.Tyr627Ser) c.2108A>C (p.Tyr703Ser) n.4596A>C n.5252A>C n.5712A>C | |
7 | g.148807681A= | CA1751419312 | EZH2 | n.4121T= c.*1283T= (n.*1283T=) c.*1117T= (n.*1117T=) n.3940T= n.4208T= n.2537T= n.2599T= c.2221T= (p.Tyr741=) c.2089T= (p.Tyr697=) c.2206T= (p.Tyr736=) c.2053T= (p.Tyr685=) c.2179T= (p.Tyr727=) c.*2211T= (n.*2211T=) c.2230T= (p.Tyr744=) c.2203T= (p.Tyr735=) c.2077T= (p.Tyr693=) c.2245T= (p.Tyr749=) c.2218T= (p.Tyr740=) c.2197T= (p.Tyr733=) c.2194T= (p.Tyr732=) c.2155T= (p.Tyr719=) c.2128T= (p.Tyr710=) c.2122T= (p.Tyr708=) c.2119T= (p.Tyr707=) c.2113T= (p.Tyr705=) c.2104T= (p.Tyr702=) c.2101T= (p.Tyr701=) c.1987T= (p.Tyr663=) c.1894T= (p.Tyr632=) n.515+2596A= n.722+2596A= c.2182T= (p.Tyr728=) c.1879T= (p.Tyr627=) c.2107T= (p.Tyr703=) n.4595T= n.5251T= n.5711T= | |
7 | g.148807681A>C | CA369711808 | EZH2 | n.4121T>G c.*1283T>G (n.*1283T>G) c.*1117T>G (n.*1117T>G) n.3940T>G n.4208T>G n.2537T>G n.2599T>G c.2221T>G (p.Tyr741Asp) c.2089T>G (p.Tyr697Asp) c.2206T>G (p.Tyr736Asp) c.2053T>G (p.Tyr685Asp) c.2179T>G (p.Tyr727Asp) c.*2211T>G (n.*2211T>G) c.2230T>G (p.Tyr744Asp) c.2203T>G (p.Tyr735Asp) c.2077T>G (p.Tyr693Asp) c.2245T>G (p.Tyr749Asp) c.2218T>G (p.Tyr740Asp) c.2197T>G (p.Tyr733Asp) c.2194T>G (p.Tyr732Asp) c.2155T>G (p.Tyr719Asp) c.2128T>G (p.Tyr710Asp) c.2122T>G (p.Tyr708Asp) c.2119T>G (p.Tyr707Asp) c.2113T>G (p.Tyr705Asp) c.2104T>G (p.Tyr702Asp) c.2101T>G (p.Tyr701Asp) c.1987T>G (p.Tyr663Asp) c.1894T>G (p.Tyr632Asp) n.515+2596A>C n.722+2596A>C c.2182T>G (p.Tyr728Asp) c.1879T>G (p.Tyr627Asp) c.2107T>G (p.Tyr703Asp) n.4595T>G n.5251T>G n.5711T>G | |
7 | g.148807681A>G | CA16618392 | EZH2 | n.4121T>C c.*1283T>C (n.*1283T>C) c.*1117T>C (n.*1117T>C) n.3940T>C n.4208T>C n.2537T>C n.2599T>C c.2221T>C (p.Tyr741His) c.2089T>C (p.Tyr697His) c.2206T>C (p.Tyr736His) c.2053T>C (p.Tyr685His) c.2179T>C (p.Tyr727His) c.*2211T>C (n.*2211T>C) c.2230T>C (p.Tyr744His) c.2203T>C (p.Tyr735His) c.2077T>C (p.Tyr693His) c.2245T>C (p.Tyr749His) c.2218T>C (p.Tyr740His) c.2197T>C (p.Tyr733His) c.2194T>C (p.Tyr732His) c.2155T>C (p.Tyr719His) c.2128T>C (p.Tyr710His) c.2122T>C (p.Tyr708His) c.2119T>C (p.Tyr707His) c.2113T>C (p.Tyr705His) c.2104T>C (p.Tyr702His) c.2101T>C (p.Tyr701His) c.1987T>C (p.Tyr663His) c.1894T>C (p.Tyr632His) n.515+2596A>G n.722+2596A>G c.2182T>C (p.Tyr728His) c.1879T>C (p.Tyr627His) c.2107T>C (p.Tyr703His) n.4595T>C n.5251T>C n.5711T>C | ClinVar dbSNP |
7 | g.148807681A>T | CA369711809 | EZH2 | n.4121T>A c.*1283T>A (n.*1283T>A) c.*1117T>A (n.*1117T>A) n.3940T>A n.4208T>A n.2537T>A n.2599T>A c.2221T>A (p.Tyr741Asn) c.2089T>A (p.Tyr697Asn) c.2206T>A (p.Tyr736Asn) c.2053T>A (p.Tyr685Asn) c.2179T>A (p.Tyr727Asn) c.*2211T>A (n.*2211T>A) c.2230T>A (p.Tyr744Asn) c.2203T>A (p.Tyr735Asn) c.2077T>A (p.Tyr693Asn) c.2245T>A (p.Tyr749Asn) c.2218T>A (p.Tyr740Asn) c.2197T>A (p.Tyr733Asn) c.2194T>A (p.Tyr732Asn) c.2155T>A (p.Tyr719Asn) c.2128T>A (p.Tyr710Asn) c.2122T>A (p.Tyr708Asn) c.2119T>A (p.Tyr707Asn) c.2113T>A (p.Tyr705Asn) c.2104T>A (p.Tyr702Asn) c.2101T>A (p.Tyr701Asn) c.1987T>A (p.Tyr663Asn) c.1894T>A (p.Tyr632Asn) n.515+2596A>T n.722+2596A>T c.2182T>A (p.Tyr728Asn) c.1879T>A (p.Tyr627Asn) c.2107T>A (p.Tyr703Asn) n.4595T>A n.5251T>A n.5711T>A | |
7 | g.148807682C>A | CA369711810 | EZH2 | n.4120G>T c.*1282G>T (n.*1282G>T) c.*1116G>T (n.*1116G>T) n.3939G>T n.4207G>T n.2536G>T n.2598G>T c.2220G>T (p.Lys740Asn) c.2088G>T (p.Lys696Asn) c.2205G>T (p.Lys735Asn) c.2052G>T (p.Lys684Asn) c.2178G>T (p.Lys726Asn) c.*2210G>T (n.*2210G>T) c.2229G>T (p.Lys743Asn) c.2202G>T (p.Lys734Asn) c.2076G>T (p.Lys692Asn) c.2244G>T (p.Lys748Asn) c.2217G>T (p.Lys739Asn) c.2196G>T (p.Lys732Asn) c.2193G>T (p.Lys731Asn) c.2154G>T (p.Lys718Asn) c.2127G>T (p.Lys709Asn) c.2121G>T (p.Lys707Asn) c.2118G>T (p.Lys706Asn) c.2112G>T (p.Lys704Asn) c.2103G>T (p.Lys701Asn) c.2100G>T (p.Lys700Asn) c.1986G>T (p.Lys662Asn) c.1893G>T (p.Lys631Asn) n.515+2597C>A n.722+2597C>A c.2181G>T (p.Lys727Asn) c.1878G>T (p.Lys626Asn) c.2106G>T (p.Lys702Asn) n.4594G>T n.5250G>T n.5710G>T | gnomAD v4 |
7 | g.148807682C>G | CA369711811 | EZH2 | n.4120G>C c.*1282G>C (n.*1282G>C) c.*1116G>C (n.*1116G>C) n.3939G>C n.4207G>C n.2536G>C n.2598G>C c.2220G>C (p.Lys740Asn) c.2088G>C (p.Lys696Asn) c.2205G>C (p.Lys735Asn) c.2052G>C (p.Lys684Asn) c.2178G>C (p.Lys726Asn) c.*2210G>C (n.*2210G>C) c.2229G>C (p.Lys743Asn) c.2202G>C (p.Lys734Asn) c.2076G>C (p.Lys692Asn) c.2244G>C (p.Lys748Asn) c.2217G>C (p.Lys739Asn) c.2196G>C (p.Lys732Asn) c.2193G>C (p.Lys731Asn) c.2154G>C (p.Lys718Asn) c.2127G>C (p.Lys709Asn) c.2121G>C (p.Lys707Asn) c.2118G>C (p.Lys706Asn) c.2112G>C (p.Lys704Asn) c.2103G>C (p.Lys701Asn) c.2100G>C (p.Lys700Asn) c.1986G>C (p.Lys662Asn) c.1893G>C (p.Lys631Asn) n.515+2597C>G n.722+2597C>G c.2181G>C (p.Lys727Asn) c.1878G>C (p.Lys626Asn) c.2106G>C (p.Lys702Asn) n.4594G>C n.5250G>C n.5710G>C | ClinVar |
7 | g.148807682C>T | CA458345626 | EZH2 | n.4120G>A c.*1282G>A (n.*1282G>A) c.*1116G>A (n.*1116G>A) n.3939G>A n.4207G>A n.2536G>A n.2598G>A c.2220G>A (p.Lys740=) c.2088G>A (p.Lys696=) c.2205G>A (p.Lys735=) c.2052G>A (p.Lys684=) c.2178G>A (p.Lys726=) c.*2210G>A (n.*2210G>A) c.2229G>A (p.Lys743=) c.2202G>A (p.Lys734=) c.2076G>A (p.Lys692=) c.2244G>A (p.Lys748=) c.2217G>A (p.Lys739=) c.2196G>A (p.Lys732=) c.2193G>A (p.Lys731=) c.2154G>A (p.Lys718=) c.2127G>A (p.Lys709=) c.2121G>A (p.Lys707=) c.2118G>A (p.Lys706=) c.2112G>A (p.Lys704=) c.2103G>A (p.Lys701=) c.2100G>A (p.Lys700=) c.1986G>A (p.Lys662=) c.1893G>A (p.Lys631=) n.515+2597C>T n.722+2597C>T c.2181G>A (p.Lys727=) c.1878G>A (p.Lys626=) c.2106G>A (p.Lys702=) n.4594G>A n.5250G>A n.5710G>A | gnomAD v4 |
7 | g.148807683_148807685dup | CA891843193 | EZH2 | n.4118_4120dup c.*1280_*1282dup (n.*1280_*1282dup) c.*1114_*1116dup (n.*1114_*1116dup) n.3937_3939dup n.4205_4207dup n.2534_2536dup n.2596_2598dup c.2218_2220dup (p.Lys740_Tyr741insLys) c.2086_2088dup (p.Lys696_Tyr697insLys) c.2203_2205dup (p.Lys735_Tyr736insLys) c.2050_2052dup (p.Lys684_Tyr685insLys) c.2176_2178dup (p.Lys726_Tyr727insLys) c.*2208_*2210dup (n.*2208_*2210dup) c.2227_2229dup (p.Lys743_Tyr744insLys) c.2200_2202dup (p.Lys734_Tyr735insLys) c.2074_2076dup (p.Lys692_Tyr693insLys) c.2242_2244dup (p.Lys748_Tyr749insLys) c.2215_2217dup (p.Lys739_Tyr740insLys) c.2194_2196dup (p.Lys732_Tyr733insLys) c.2191_2193dup (p.Lys731_Tyr732insLys) c.2152_2154dup (p.Lys718_Tyr719insLys) c.2125_2127dup (p.Lys709_Tyr710insLys) c.2119_2121dup (p.Lys707_Tyr708insLys) c.2116_2118dup (p.Lys706_Tyr707insLys) c.2110_2112dup (p.Lys704_Tyr705insLys) c.2101_2103dup (p.Lys701_Tyr702insLys) c.2098_2100dup (p.Lys700_Tyr701insLys) c.1984_1986dup (p.Lys662_Tyr663insLys) c.1891_1893dup (p.Lys631_Tyr632insLys) n.515+2598_515+2600dup n.722+2598_722+2600dup c.2179_2181dup (p.Lys727_Tyr728insLys) c.1876_1878dup (p.Lys626_Tyr627insLys) c.2104_2106dup (p.Lys702_Tyr703insLys) n.4592_4594dup n.5248_5250dup n.5708_5710dup | ClinVar dbSNP |
7 | g.148807683T>A | CA369711814 | EZH2 | n.4119A>T c.*1281A>T (n.*1281A>T) c.*1115A>T (n.*1115A>T) n.3938A>T n.4206A>T n.2535A>T n.2597A>T c.2219A>T (p.Lys740Met) c.2087A>T (p.Lys696Met) c.2204A>T (p.Lys735Met) c.2051A>T (p.Lys684Met) c.2177A>T (p.Lys726Met) c.*2209A>T (n.*2209A>T) c.2228A>T (p.Lys743Met) c.2201A>T (p.Lys734Met) c.2075A>T (p.Lys692Met) c.2243A>T (p.Lys748Met) c.2216A>T (p.Lys739Met) c.2195A>T (p.Lys732Met) c.2192A>T (p.Lys731Met) c.2153A>T (p.Lys718Met) c.2126A>T (p.Lys709Met) c.2120A>T (p.Lys707Met) c.2117A>T (p.Lys706Met) c.2111A>T (p.Lys704Met) c.2102A>T (p.Lys701Met) c.2099A>T (p.Lys700Met) c.1985A>T (p.Lys662Met) c.1892A>T (p.Lys631Met) n.515+2598T>A n.722+2598T>A c.2180A>T (p.Lys727Met) c.1877A>T (p.Lys626Met) c.2105A>T (p.Lys702Met) n.4593A>T n.5249A>T n.5709A>T | |
7 | g.148807683T>C | CA369711813 | EZH2 | n.4119A>G c.*1281A>G (n.*1281A>G) c.*1115A>G (n.*1115A>G) n.3938A>G n.4206A>G n.2535A>G n.2597A>G c.2219A>G (p.Lys740Arg) c.2087A>G (p.Lys696Arg) c.2204A>G (p.Lys735Arg) c.2051A>G (p.Lys684Arg) c.2177A>G (p.Lys726Arg) c.*2209A>G (n.*2209A>G) c.2228A>G (p.Lys743Arg) c.2201A>G (p.Lys734Arg) c.2075A>G (p.Lys692Arg) c.2243A>G (p.Lys748Arg) c.2216A>G (p.Lys739Arg) c.2195A>G (p.Lys732Arg) c.2192A>G (p.Lys731Arg) c.2153A>G (p.Lys718Arg) c.2126A>G (p.Lys709Arg) c.2120A>G (p.Lys707Arg) c.2117A>G (p.Lys706Arg) c.2111A>G (p.Lys704Arg) c.2102A>G (p.Lys701Arg) c.2099A>G (p.Lys700Arg) c.1985A>G (p.Lys662Arg) c.1892A>G (p.Lys631Arg) n.515+2598T>C n.722+2598T>C c.2180A>G (p.Lys727Arg) c.1877A>G (p.Lys626Arg) c.2105A>G (p.Lys702Arg) n.4593A>G n.5249A>G n.5709A>G | |
7 | g.148807683T>G | CA369711812 | EZH2 | n.4119A>C c.*1281A>C (n.*1281A>C) c.*1115A>C (n.*1115A>C) n.3938A>C n.4206A>C n.2535A>C n.2597A>C c.2219A>C (p.Lys740Thr) c.2087A>C (p.Lys696Thr) c.2204A>C (p.Lys735Thr) c.2051A>C (p.Lys684Thr) c.2177A>C (p.Lys726Thr) c.*2209A>C (n.*2209A>C) c.2228A>C (p.Lys743Thr) c.2201A>C (p.Lys734Thr) c.2075A>C (p.Lys692Thr) c.2243A>C (p.Lys748Thr) c.2216A>C (p.Lys739Thr) c.2195A>C (p.Lys732Thr) c.2192A>C (p.Lys731Thr) c.2153A>C (p.Lys718Thr) c.2126A>C (p.Lys709Thr) c.2120A>C (p.Lys707Thr) c.2117A>C (p.Lys706Thr) c.2111A>C (p.Lys704Thr) c.2102A>C (p.Lys701Thr) c.2099A>C (p.Lys700Thr) c.1985A>C (p.Lys662Thr) c.1892A>C (p.Lys631Thr) n.515+2598T>G n.722+2598T>G c.2180A>C (p.Lys727Thr) c.1877A>C (p.Lys626Thr) c.2105A>C (p.Lys702Thr) n.4593A>C n.5249A>C n.5709A>C | |
7 | g.148807684T>A | CA369711815 | EZH2 | n.4118A>T c.*1280A>T (n.*1280A>T) c.*1114A>T (n.*1114A>T) n.3937A>T n.4205A>T n.2534A>T n.2596A>T c.2218A>T (p.Lys740Ter) c.2086A>T (p.Lys696Ter) c.2203A>T (p.Lys735Ter) c.2050A>T (p.Lys684Ter) c.2176A>T (p.Lys726Ter) c.*2208A>T (n.*2208A>T) c.2227A>T (p.Lys743Ter) c.2200A>T (p.Lys734Ter) c.2074A>T (p.Lys692Ter) c.2242A>T (p.Lys748Ter) c.2215A>T (p.Lys739Ter) c.2194A>T (p.Lys732Ter) c.2191A>T (p.Lys731Ter) c.2152A>T (p.Lys718Ter) c.2125A>T (p.Lys709Ter) c.2119A>T (p.Lys707Ter) c.2116A>T (p.Lys706Ter) c.2110A>T (p.Lys704Ter) c.2101A>T (p.Lys701Ter) c.2098A>T (p.Lys700Ter) c.1984A>T (p.Lys662Ter) c.1891A>T (p.Lys631Ter) n.515+2599T>A n.722+2599T>A c.2179A>T (p.Lys727Ter) c.1876A>T (p.Lys626Ter) c.2104A>T (p.Lys702Ter) n.4592A>T n.5248A>T n.5708A>T | |
7 | g.148807684T>C | CA369711816 | EZH2 | n.4118A>G c.*1280A>G (n.*1280A>G) c.*1114A>G (n.*1114A>G) n.3937A>G n.4205A>G n.2534A>G n.2596A>G c.2218A>G (p.Lys740Glu) c.2086A>G (p.Lys696Glu) c.2203A>G (p.Lys735Glu) c.2050A>G (p.Lys684Glu) c.2176A>G (p.Lys726Glu) c.*2208A>G (n.*2208A>G) c.2227A>G (p.Lys743Glu) c.2200A>G (p.Lys734Glu) c.2074A>G (p.Lys692Glu) c.2242A>G (p.Lys748Glu) c.2215A>G (p.Lys739Glu) c.2194A>G (p.Lys732Glu) c.2191A>G (p.Lys731Glu) c.2152A>G (p.Lys718Glu) c.2125A>G (p.Lys709Glu) c.2119A>G (p.Lys707Glu) c.2116A>G (p.Lys706Glu) c.2110A>G (p.Lys704Glu) c.2101A>G (p.Lys701Glu) c.2098A>G (p.Lys700Glu) c.1984A>G (p.Lys662Glu) c.1891A>G (p.Lys631Glu) n.515+2599T>C n.722+2599T>C c.2179A>G (p.Lys727Glu) c.1876A>G (p.Lys626Glu) c.2104A>G (p.Lys702Glu) n.4592A>G n.5248A>G n.5708A>G | |
7 | g.148807684T>G | CA369711817 | EZH2 | n.4118A>C c.*1280A>C (n.*1280A>C) c.*1114A>C (n.*1114A>C) n.3937A>C n.4205A>C n.2534A>C n.2596A>C c.2218A>C (p.Lys740Gln) c.2086A>C (p.Lys696Gln) c.2203A>C (p.Lys735Gln) c.2050A>C (p.Lys684Gln) c.2176A>C (p.Lys726Gln) c.*2208A>C (n.*2208A>C) c.2227A>C (p.Lys743Gln) c.2200A>C (p.Lys734Gln) c.2074A>C (p.Lys692Gln) c.2242A>C (p.Lys748Gln) c.2215A>C (p.Lys739Gln) c.2194A>C (p.Lys732Gln) c.2191A>C (p.Lys731Gln) c.2152A>C (p.Lys718Gln) c.2125A>C (p.Lys709Gln) c.2119A>C (p.Lys707Gln) c.2116A>C (p.Lys706Gln) c.2110A>C (p.Lys704Gln) c.2101A>C (p.Lys701Gln) c.2098A>C (p.Lys700Gln) c.1984A>C (p.Lys662Gln) c.1891A>C (p.Lys631Gln) n.515+2599T>G n.722+2599T>G c.2179A>C (p.Lys727Gln) c.1876A>C (p.Lys626Gln) c.2104A>C (p.Lys702Gln) n.4592A>C n.5248A>C n.5708A>C | |
7 | g.148807685C>A | CA458345629 | EZH2 | n.4117G>T c.*1279G>T (n.*1279G>T) c.*1113G>T (n.*1113G>T) n.3936G>T n.4204G>T n.2533G>T n.2595G>T c.2217G>T (p.Leu739=) c.2085G>T (p.Leu695=) c.2202G>T (p.Leu734=) c.2049G>T (p.Leu683=) c.2175G>T (p.Leu725=) c.*2207G>T (n.*2207G>T) c.2226G>T (p.Leu742=) c.2199G>T (p.Leu733=) c.2073G>T (p.Leu691=) c.2241G>T (p.Leu747=) c.2214G>T (p.Leu738=) c.2193G>T (p.Leu731=) c.2190G>T (p.Leu730=) c.2151G>T (p.Leu717=) c.2124G>T (p.Leu708=) c.2118G>T (p.Leu706=) c.2115G>T (p.Leu705=) c.2109G>T (p.Leu703=) c.2100G>T (p.Leu700=) c.2097G>T (p.Leu699=) c.1983G>T (p.Leu661=) c.1890G>T (p.Leu630=) n.515+2600C>A n.722+2600C>A c.2178G>T (p.Leu726=) c.1875G>T (p.Leu625=) c.2103G>T (p.Leu701=) n.4591G>T n.5247G>T n.5707G>T | ClinVar dbSNP gnomAD v4 |
7 | g.148807685C= | CA1751419314 | EZH2 | n.4117G= c.*1279G= (n.*1279G=) c.*1113G= (n.*1113G=) n.3936G= n.4204G= n.2533G= n.2595G= c.2217G= (p.Leu739=) c.2085G= (p.Leu695=) c.2202G= (p.Leu734=) c.2049G= (p.Leu683=) c.2175G= (p.Leu725=) c.*2207G= (n.*2207G=) c.2226G= (p.Leu742=) c.2199G= (p.Leu733=) c.2073G= (p.Leu691=) c.2241G= (p.Leu747=) c.2214G= (p.Leu738=) c.2193G= (p.Leu731=) c.2190G= (p.Leu730=) c.2151G= (p.Leu717=) c.2124G= (p.Leu708=) c.2118G= (p.Leu706=) c.2115G= (p.Leu705=) c.2109G= (p.Leu703=) c.2100G= (p.Leu700=) c.2097G= (p.Leu699=) c.1983G= (p.Leu661=) c.1890G= (p.Leu630=) n.515+2600C= n.722+2600C= c.2178G= (p.Leu726=) c.1875G= (p.Leu625=) c.2103G= (p.Leu701=) n.4591G= n.5247G= n.5707G= | |
7 | g.148807685C>G | CA458345627 | EZH2 | n.4117G>C c.*1279G>C (n.*1279G>C) c.*1113G>C (n.*1113G>C) n.3936G>C n.4204G>C n.2533G>C n.2595G>C c.2217G>C (p.Leu739=) c.2085G>C (p.Leu695=) c.2202G>C (p.Leu734=) c.2049G>C (p.Leu683=) c.2175G>C (p.Leu725=) c.*2207G>C (n.*2207G>C) c.2226G>C (p.Leu742=) c.2199G>C (p.Leu733=) c.2073G>C (p.Leu691=) c.2241G>C (p.Leu747=) c.2214G>C (p.Leu738=) c.2193G>C (p.Leu731=) c.2190G>C (p.Leu730=) c.2151G>C (p.Leu717=) c.2124G>C (p.Leu708=) c.2118G>C (p.Leu706=) c.2115G>C (p.Leu705=) c.2109G>C (p.Leu703=) c.2100G>C (p.Leu700=) c.2097G>C (p.Leu699=) c.1983G>C (p.Leu661=) c.1890G>C (p.Leu630=) n.515+2600C>G n.722+2600C>G c.2178G>C (p.Leu726=) c.1875G>C (p.Leu625=) c.2103G>C (p.Leu701=) n.4591G>C n.5247G>C n.5707G>C | |
7 | g.148807685C>T | CA458345628 | EZH2 | n.4117G>A c.*1279G>A (n.*1279G>A) c.*1113G>A (n.*1113G>A) n.3936G>A n.4204G>A n.2533G>A n.2595G>A c.2217G>A (p.Leu739=) c.2085G>A (p.Leu695=) c.2202G>A (p.Leu734=) c.2049G>A (p.Leu683=) c.2175G>A (p.Leu725=) c.*2207G>A (n.*2207G>A) c.2226G>A (p.Leu742=) c.2199G>A (p.Leu733=) c.2073G>A (p.Leu691=) c.2241G>A (p.Leu747=) c.2214G>A (p.Leu738=) c.2193G>A (p.Leu731=) c.2190G>A (p.Leu730=) c.2151G>A (p.Leu717=) c.2124G>A (p.Leu708=) c.2118G>A (p.Leu706=) c.2115G>A (p.Leu705=) c.2109G>A (p.Leu703=) c.2100G>A (p.Leu700=) c.2097G>A (p.Leu699=) c.1983G>A (p.Leu661=) c.1890G>A (p.Leu630=) n.515+2600C>T n.722+2600C>T c.2178G>A (p.Leu726=) c.1875G>A (p.Leu625=) c.2103G>A (p.Leu701=) n.4591G>A n.5247G>A n.5707G>A | gnomAD v4 |
7 | g.148807686A>C | CA369711818 | EZH2 | n.4116T>G c.*1278T>G (n.*1278T>G) c.*1112T>G (n.*1112T>G) n.3935T>G n.4203T>G n.2532T>G n.2594T>G c.2216T>G (p.Leu739Arg) c.2084T>G (p.Leu695Arg) c.2201T>G (p.Leu734Arg) c.2048T>G (p.Leu683Arg) c.2174T>G (p.Leu725Arg) c.*2206T>G (n.*2206T>G) c.2225T>G (p.Leu742Arg) c.2198T>G (p.Leu733Arg) c.2072T>G (p.Leu691Arg) c.2240T>G (p.Leu747Arg) c.2213T>G (p.Leu738Arg) c.2192T>G (p.Leu731Arg) c.2189T>G (p.Leu730Arg) c.2150T>G (p.Leu717Arg) c.2123T>G (p.Leu708Arg) c.2117T>G (p.Leu706Arg) c.2114T>G (p.Leu705Arg) c.2108T>G (p.Leu703Arg) c.2099T>G (p.Leu700Arg) c.2096T>G (p.Leu699Arg) c.1982T>G (p.Leu661Arg) c.1889T>G (p.Leu630Arg) n.515+2601A>C n.722+2601A>C c.2177T>G (p.Leu726Arg) c.1874T>G (p.Leu625Arg) c.2102T>G (p.Leu701Arg) n.4590T>G n.5246T>G n.5706T>G | |
7 | g.148807686A>G | CA369711819 | EZH2 | n.4116T>C c.*1278T>C (n.*1278T>C) c.*1112T>C (n.*1112T>C) n.3935T>C n.4203T>C n.2532T>C n.2594T>C c.2216T>C (p.Leu739Pro) c.2084T>C (p.Leu695Pro) c.2201T>C (p.Leu734Pro) c.2048T>C (p.Leu683Pro) c.2174T>C (p.Leu725Pro) c.*2206T>C (n.*2206T>C) c.2225T>C (p.Leu742Pro) c.2198T>C (p.Leu733Pro) c.2072T>C (p.Leu691Pro) c.2240T>C (p.Leu747Pro) c.2213T>C (p.Leu738Pro) c.2192T>C (p.Leu731Pro) c.2189T>C (p.Leu730Pro) c.2150T>C (p.Leu717Pro) c.2123T>C (p.Leu708Pro) c.2117T>C (p.Leu706Pro) c.2114T>C (p.Leu705Pro) c.2108T>C (p.Leu703Pro) c.2099T>C (p.Leu700Pro) c.2096T>C (p.Leu699Pro) c.1982T>C (p.Leu661Pro) c.1889T>C (p.Leu630Pro) n.515+2601A>G n.722+2601A>G c.2177T>C (p.Leu726Pro) c.1874T>C (p.Leu625Pro) c.2102T>C (p.Leu701Pro) n.4590T>C n.5246T>C n.5706T>C | |
7 | g.148807686A>T | CA369711820 | EZH2 | n.4116T>A c.*1278T>A (n.*1278T>A) c.*1112T>A (n.*1112T>A) n.3935T>A n.4203T>A n.2532T>A n.2594T>A c.2216T>A (p.Leu739Gln) c.2084T>A (p.Leu695Gln) c.2201T>A (p.Leu734Gln) c.2048T>A (p.Leu683Gln) c.2174T>A (p.Leu725Gln) c.*2206T>A (n.*2206T>A) c.2225T>A (p.Leu742Gln) c.2198T>A (p.Leu733Gln) c.2072T>A (p.Leu691Gln) c.2240T>A (p.Leu747Gln) c.2213T>A (p.Leu738Gln) c.2192T>A (p.Leu731Gln) c.2189T>A (p.Leu730Gln) c.2150T>A (p.Leu717Gln) c.2123T>A (p.Leu708Gln) c.2117T>A (p.Leu706Gln) c.2114T>A (p.Leu705Gln) c.2108T>A (p.Leu703Gln) c.2099T>A (p.Leu700Gln) c.2096T>A (p.Leu699Gln) c.1982T>A (p.Leu661Gln) c.1889T>A (p.Leu630Gln) n.515+2601A>T n.722+2601A>T c.2177T>A (p.Leu726Gln) c.1874T>A (p.Leu625Gln) c.2102T>A (p.Leu701Gln) n.4590T>A n.5246T>A n.5706T>A | |
7 | g.148807687G>A | CA458345630 | EZH2 | n.4115C>T c.*1277C>T (n.*1277C>T) c.*1111C>T (n.*1111C>T) n.3934C>T n.4202C>T n.2531C>T n.2593C>T c.2215C>T (p.Leu739=) c.2083C>T (p.Leu695=) c.2200C>T (p.Leu734=) c.2047C>T (p.Leu683=) c.2173C>T (p.Leu725=) c.*2205C>T (n.*2205C>T) c.2224C>T (p.Leu742=) c.2197C>T (p.Leu733=) c.2071C>T (p.Leu691=) c.2239C>T (p.Leu747=) c.2212C>T (p.Leu738=) c.2191C>T (p.Leu731=) c.2188C>T (p.Leu730=) c.2149C>T (p.Leu717=) c.2122C>T (p.Leu708=) c.2116C>T (p.Leu706=) c.2113C>T (p.Leu705=) c.2107C>T (p.Leu703=) c.2098C>T (p.Leu700=) c.2095C>T (p.Leu699=) c.1981C>T (p.Leu661=) c.1888C>T (p.Leu630=) n.515+2602G>A n.722+2602G>A c.2176C>T (p.Leu726=) c.1873C>T (p.Leu625=) c.2101C>T (p.Leu701=) n.4589C>T n.5245C>T n.5705C>T | |
7 | g.148807687G>C | CA369711821 | EZH2 | n.4115C>G c.*1277C>G (n.*1277C>G) c.*1111C>G (n.*1111C>G) n.3934C>G n.4202C>G n.2531C>G n.2593C>G c.2215C>G (p.Leu739Val) c.2083C>G (p.Leu695Val) c.2200C>G (p.Leu734Val) c.2047C>G (p.Leu683Val) c.2173C>G (p.Leu725Val) c.*2205C>G (n.*2205C>G) c.2224C>G (p.Leu742Val) c.2197C>G (p.Leu733Val) c.2071C>G (p.Leu691Val) c.2239C>G (p.Leu747Val) c.2212C>G (p.Leu738Val) c.2191C>G (p.Leu731Val) c.2188C>G (p.Leu730Val) c.2149C>G (p.Leu717Val) c.2122C>G (p.Leu708Val) c.2116C>G (p.Leu706Val) c.2113C>G (p.Leu705Val) c.2107C>G (p.Leu703Val) c.2098C>G (p.Leu700Val) c.2095C>G (p.Leu699Val) c.1981C>G (p.Leu661Val) c.1888C>G (p.Leu630Val) n.515+2602G>C n.722+2602G>C c.2176C>G (p.Leu726Val) c.1873C>G (p.Leu625Val) c.2101C>G (p.Leu701Val) n.4589C>G n.5245C>G n.5705C>G | |
7 | g.148807687G>T | CA369711822 | EZH2 | n.4115C>A c.*1277C>A (n.*1277C>A) c.*1111C>A (n.*1111C>A) n.3934C>A n.4202C>A n.2531C>A n.2593C>A c.2215C>A (p.Leu739Met) c.2083C>A (p.Leu695Met) c.2200C>A (p.Leu734Met) c.2047C>A (p.Leu683Met) c.2173C>A (p.Leu725Met) c.*2205C>A (n.*2205C>A) c.2224C>A (p.Leu742Met) c.2197C>A (p.Leu733Met) c.2071C>A (p.Leu691Met) c.2239C>A (p.Leu747Met) c.2212C>A (p.Leu738Met) c.2191C>A (p.Leu731Met) c.2188C>A (p.Leu730Met) c.2149C>A (p.Leu717Met) c.2122C>A (p.Leu708Met) c.2116C>A (p.Leu706Met) c.2113C>A (p.Leu705Met) c.2107C>A (p.Leu703Met) c.2098C>A (p.Leu700Met) c.2095C>A (p.Leu699Met) c.1981C>A (p.Leu661Met) c.1888C>A (p.Leu630Met) n.515+2602G>T n.722+2602G>T c.2176C>A (p.Leu726Met) c.1873C>A (p.Leu625Met) c.2101C>A (p.Leu701Met) n.4589C>A n.5245C>A n.5705C>A | gnomAD v4 |
7 | g.148807688G>A | CA458345633 | EZH2 | n.4114C>T c.*1276C>T (n.*1276C>T) c.*1110C>T (n.*1110C>T) n.3933C>T n.4201C>T n.2530C>T n.2592C>T c.2214C>T (p.Ala738=) c.2082C>T (p.Ala694=) c.2199C>T (p.Ala733=) c.2046C>T (p.Ala682=) c.2172C>T (p.Ala724=) c.*2204C>T (n.*2204C>T) c.2223C>T (p.Ala741=) c.2196C>T (p.Ala732=) c.2070C>T (p.Ala690=) c.2238C>T (p.Ala746=) c.2211C>T (p.Ala737=) c.2190C>T (p.Ala730=) c.2187C>T (p.Ala729=) c.2148C>T (p.Ala716=) c.2121C>T (p.Ala707=) c.2115C>T (p.Ala705=) c.2112C>T (p.Ala704=) c.2106C>T (p.Ala702=) c.2097C>T (p.Ala699=) c.2094C>T (p.Ala698=) c.1980C>T (p.Ala660=) c.1887C>T (p.Ala629=) n.515+2603G>A n.722+2603G>A c.2175C>T (p.Ala725=) c.1872C>T (p.Ala624=) c.2100C>T (p.Ala700=) n.4588C>T n.5244C>T n.5704C>T | ClinVar dbSNP gnomAD v4 |
7 | g.148807688G>C | CA458345632 | EZH2 | n.4114C>G c.*1276C>G (n.*1276C>G) c.*1110C>G (n.*1110C>G) n.3933C>G n.4201C>G n.2530C>G n.2592C>G c.2214C>G (p.Ala738=) c.2082C>G (p.Ala694=) c.2199C>G (p.Ala733=) c.2046C>G (p.Ala682=) c.2172C>G (p.Ala724=) c.*2204C>G (n.*2204C>G) c.2223C>G (p.Ala741=) c.2196C>G (p.Ala732=) c.2070C>G (p.Ala690=) c.2238C>G (p.Ala746=) c.2211C>G (p.Ala737=) c.2190C>G (p.Ala730=) c.2187C>G (p.Ala729=) c.2148C>G (p.Ala716=) c.2121C>G (p.Ala707=) c.2115C>G (p.Ala705=) c.2112C>G (p.Ala704=) c.2106C>G (p.Ala702=) c.2097C>G (p.Ala699=) c.2094C>G (p.Ala698=) c.1980C>G (p.Ala660=) c.1887C>G (p.Ala629=) n.515+2603G>C n.722+2603G>C c.2175C>G (p.Ala725=) c.1872C>G (p.Ala624=) c.2100C>G (p.Ala700=) n.4588C>G n.5244C>G n.5704C>G | |
7 | g.148807688G= | CA1751419315 | EZH2 | n.4114C= c.*1276C= (n.*1276C=) c.*1110C= (n.*1110C=) n.3933C= n.4201C= n.2530C= n.2592C= c.2214C= (p.Ala738=) c.2082C= (p.Ala694=) c.2199C= (p.Ala733=) c.2046C= (p.Ala682=) c.2172C= (p.Ala724=) c.*2204C= (n.*2204C=) c.2223C= (p.Ala741=) c.2196C= (p.Ala732=) c.2070C= (p.Ala690=) c.2238C= (p.Ala746=) c.2211C= (p.Ala737=) c.2190C= (p.Ala730=) c.2187C= (p.Ala729=) c.2148C= (p.Ala716=) c.2121C= (p.Ala707=) c.2115C= (p.Ala705=) c.2112C= (p.Ala704=) c.2106C= (p.Ala702=) c.2097C= (p.Ala699=) c.2094C= (p.Ala698=) c.1980C= (p.Ala660=) c.1887C= (p.Ala629=) n.515+2603G= n.722+2603G= c.2175C= (p.Ala725=) c.1872C= (p.Ala624=) c.2100C= (p.Ala700=) n.4588C= n.5244C= n.5704C= | |
7 | g.148807688G>T | CA458345631 | EZH2 | n.4114C>A c.*1276C>A (n.*1276C>A) c.*1110C>A (n.*1110C>A) n.3933C>A n.4201C>A n.2530C>A n.2592C>A c.2214C>A (p.Ala738=) c.2082C>A (p.Ala694=) c.2199C>A (p.Ala733=) c.2046C>A (p.Ala682=) c.2172C>A (p.Ala724=) c.*2204C>A (n.*2204C>A) c.2223C>A (p.Ala741=) c.2196C>A (p.Ala732=) c.2070C>A (p.Ala690=) c.2238C>A (p.Ala746=) c.2211C>A (p.Ala737=) c.2190C>A (p.Ala730=) c.2187C>A (p.Ala729=) c.2148C>A (p.Ala716=) c.2121C>A (p.Ala707=) c.2115C>A (p.Ala705=) c.2112C>A (p.Ala704=) c.2106C>A (p.Ala702=) c.2097C>A (p.Ala699=) c.2094C>A (p.Ala698=) c.1980C>A (p.Ala660=) c.1887C>A (p.Ala629=) n.515+2603G>T n.722+2603G>T c.2175C>A (p.Ala725=) c.1872C>A (p.Ala624=) c.2100C>A (p.Ala700=) n.4588C>A n.5244C>A n.5704C>A | gnomAD v4 |
7 | g.148807689G>A | CA369711823 | EZH2 | n.4113C>T c.*1275C>T (n.*1275C>T) c.*1109C>T (n.*1109C>T) n.3932C>T n.4200C>T n.2529C>T n.2591C>T c.2213C>T (p.Ala738Val) c.2081C>T (p.Ala694Val) c.2198C>T (p.Ala733Val) c.2045C>T (p.Ala682Val) c.2171C>T (p.Ala724Val) c.*2203C>T (n.*2203C>T) c.2222C>T (p.Ala741Val) c.2195C>T (p.Ala732Val) c.2069C>T (p.Ala690Val) c.2237C>T (p.Ala746Val) c.2210C>T (p.Ala737Val) c.2189C>T (p.Ala730Val) c.2186C>T (p.Ala729Val) c.2147C>T (p.Ala716Val) c.2120C>T (p.Ala707Val) c.2114C>T (p.Ala705Val) c.2111C>T (p.Ala704Val) c.2105C>T (p.Ala702Val) c.2096C>T (p.Ala699Val) c.2093C>T (p.Ala698Val) c.1979C>T (p.Ala660Val) c.1886C>T (p.Ala629Val) n.515+2604G>A n.722+2604G>A c.2174C>T (p.Ala725Val) c.1871C>T (p.Ala624Val) c.2099C>T (p.Ala700Val) n.4587C>T n.5243C>T n.5703C>T | gnomAD v4 |
7 | g.148807689G>C | CA369711824 | EZH2 | n.4113C>G c.*1275C>G (n.*1275C>G) c.*1109C>G (n.*1109C>G) n.3932C>G n.4200C>G n.2529C>G n.2591C>G c.2213C>G (p.Ala738Gly) c.2081C>G (p.Ala694Gly) c.2198C>G (p.Ala733Gly) c.2045C>G (p.Ala682Gly) c.2171C>G (p.Ala724Gly) c.*2203C>G (n.*2203C>G) c.2222C>G (p.Ala741Gly) c.2195C>G (p.Ala732Gly) c.2069C>G (p.Ala690Gly) c.2237C>G (p.Ala746Gly) c.2210C>G (p.Ala737Gly) c.2189C>G (p.Ala730Gly) c.2186C>G (p.Ala729Gly) c.2147C>G (p.Ala716Gly) c.2120C>G (p.Ala707Gly) c.2114C>G (p.Ala705Gly) c.2111C>G (p.Ala704Gly) c.2105C>G (p.Ala702Gly) c.2096C>G (p.Ala699Gly) c.2093C>G (p.Ala698Gly) c.1979C>G (p.Ala660Gly) c.1886C>G (p.Ala629Gly) n.515+2604G>C n.722+2604G>C c.2174C>G (p.Ala725Gly) c.1871C>G (p.Ala624Gly) c.2099C>G (p.Ala700Gly) n.4587C>G n.5243C>G n.5703C>G | dbSNP gnomAD v2 |
7 | g.148807689G= | CA1751419316 | EZH2 | n.4113C= c.*1275C= (n.*1275C=) c.*1109C= (n.*1109C=) n.3932C= n.4200C= n.2529C= n.2591C= c.2213C= (p.Ala738=) c.2081C= (p.Ala694=) c.2198C= (p.Ala733=) c.2045C= (p.Ala682=) c.2171C= (p.Ala724=) c.*2203C= (n.*2203C=) c.2222C= (p.Ala741=) c.2195C= (p.Ala732=) c.2069C= (p.Ala690=) c.2237C= (p.Ala746=) c.2210C= (p.Ala737=) c.2189C= (p.Ala730=) c.2186C= (p.Ala729=) c.2147C= (p.Ala716=) c.2120C= (p.Ala707=) c.2114C= (p.Ala705=) c.2111C= (p.Ala704=) c.2105C= (p.Ala702=) c.2096C= (p.Ala699=) c.2093C= (p.Ala698=) c.1979C= (p.Ala660=) c.1886C= (p.Ala629=) n.515+2604G= n.722+2604G= c.2174C= (p.Ala725=) c.1871C= (p.Ala624=) c.2099C= (p.Ala700=) n.4587C= n.5243C= n.5703C= | |
7 | g.148807689G>T | CA16616758 | EZH2 | n.4113C>A c.*1275C>A (n.*1275C>A) c.*1109C>A (n.*1109C>A) n.3932C>A n.4200C>A n.2529C>A n.2591C>A c.2213C>A (p.Ala738Asp) c.2081C>A (p.Ala694Asp) c.2198C>A (p.Ala733Asp) c.2045C>A (p.Ala682Asp) c.2171C>A (p.Ala724Asp) c.*2203C>A (n.*2203C>A) c.2222C>A (p.Ala741Asp) c.2195C>A (p.Ala732Asp) c.2069C>A (p.Ala690Asp) c.2237C>A (p.Ala746Asp) c.2210C>A (p.Ala737Asp) c.2189C>A (p.Ala730Asp) c.2186C>A (p.Ala729Asp) c.2147C>A (p.Ala716Asp) c.2120C>A (p.Ala707Asp) c.2114C>A (p.Ala705Asp) c.2111C>A (p.Ala704Asp) c.2105C>A (p.Ala702Asp) c.2096C>A (p.Ala699Asp) c.2093C>A (p.Ala698Asp) c.1979C>A (p.Ala660Asp) c.1886C>A (p.Ala629Asp) n.515+2604G>T n.722+2604G>T c.2174C>A (p.Ala725Asp) c.1871C>A (p.Ala624Asp) c.2099C>A (p.Ala700Asp) n.4587C>A n.5243C>A n.5703C>A | ClinVar dbSNP gnomAD v4 |
7 | g.148807690C>A | CA369711827 | EZH2 | n.4112G>T c.*1274G>T (n.*1274G>T) c.*1108G>T (n.*1108G>T) n.3931G>T n.4199G>T n.2528G>T n.2590G>T c.2212G>T (p.Ala738Ser) c.2080G>T (p.Ala694Ser) c.2197G>T (p.Ala733Ser) c.2044G>T (p.Ala682Ser) c.2170G>T (p.Ala724Ser) c.*2202G>T (n.*2202G>T) c.2221G>T (p.Ala741Ser) c.2194G>T (p.Ala732Ser) c.2068G>T (p.Ala690Ser) c.2236G>T (p.Ala746Ser) c.2209G>T (p.Ala737Ser) c.2188G>T (p.Ala730Ser) c.2185G>T (p.Ala729Ser) c.2146G>T (p.Ala716Ser) c.2119G>T (p.Ala707Ser) c.2113G>T (p.Ala705Ser) c.2110G>T (p.Ala704Ser) c.2104G>T (p.Ala702Ser) c.2095G>T (p.Ala699Ser) c.2092G>T (p.Ala698Ser) c.1978G>T (p.Ala660Ser) c.1885G>T (p.Ala629Ser) n.515+2605C>A n.722+2605C>A c.2173G>T (p.Ala725Ser) c.1870G>T (p.Ala624Ser) c.2098G>T (p.Ala700Ser) n.4586G>T n.5242G>T n.5702G>T | gnomAD v4 |
7 | g.148807690C>G | CA369711826 | EZH2 | n.4112G>C c.*1274G>C (n.*1274G>C) c.*1108G>C (n.*1108G>C) n.3931G>C n.4199G>C n.2528G>C n.2590G>C c.2212G>C (p.Ala738Pro) c.2080G>C (p.Ala694Pro) c.2197G>C (p.Ala733Pro) c.2044G>C (p.Ala682Pro) c.2170G>C (p.Ala724Pro) c.*2202G>C (n.*2202G>C) c.2221G>C (p.Ala741Pro) c.2194G>C (p.Ala732Pro) c.2068G>C (p.Ala690Pro) c.2236G>C (p.Ala746Pro) c.2209G>C (p.Ala737Pro) c.2188G>C (p.Ala730Pro) c.2185G>C (p.Ala729Pro) c.2146G>C (p.Ala716Pro) c.2119G>C (p.Ala707Pro) c.2113G>C (p.Ala705Pro) c.2110G>C (p.Ala704Pro) c.2104G>C (p.Ala702Pro) c.2095G>C (p.Ala699Pro) c.2092G>C (p.Ala698Pro) c.1978G>C (p.Ala660Pro) c.1885G>C (p.Ala629Pro) n.515+2605C>G n.722+2605C>G c.2173G>C (p.Ala725Pro) c.1870G>C (p.Ala624Pro) c.2098G>C (p.Ala700Pro) n.4586G>C n.5242G>C n.5702G>C | |
7 | g.148807690C>T | CA369711825 | EZH2 | n.4112G>A c.*1274G>A (n.*1274G>A) c.*1108G>A (n.*1108G>A) n.3931G>A n.4199G>A n.2528G>A n.2590G>A c.2212G>A (p.Ala738Thr) c.2080G>A (p.Ala694Thr) c.2197G>A (p.Ala733Thr) c.2044G>A (p.Ala682Thr) c.2170G>A (p.Ala724Thr) c.*2202G>A (n.*2202G>A) c.2221G>A (p.Ala741Thr) c.2194G>A (p.Ala732Thr) c.2068G>A (p.Ala690Thr) c.2236G>A (p.Ala746Thr) c.2209G>A (p.Ala737Thr) c.2188G>A (p.Ala730Thr) c.2185G>A (p.Ala729Thr) c.2146G>A (p.Ala716Thr) c.2119G>A (p.Ala707Thr) c.2113G>A (p.Ala705Thr) c.2110G>A (p.Ala704Thr) c.2104G>A (p.Ala702Thr) c.2095G>A (p.Ala699Thr) c.2092G>A (p.Ala698Thr) c.1978G>A (p.Ala660Thr) c.1885G>A (p.Ala629Thr) n.515+2605C>T n.722+2605C>T c.2173G>A (p.Ala725Thr) c.1870G>A (p.Ala624Thr) c.2098G>A (p.Ala700Thr) n.4586G>A n.5242G>A n.5702G>A | ClinVar dbSNP |
7 | g.148807691A= | CA1751419320 | EZH2 | n.4111T= c.*1273T= (n.*1273T=) c.*1107T= (n.*1107T=) n.3930T= n.4198T= n.2527T= n.2589T= c.2211T= (p.Asp737=) c.2079T= (p.Asp693=) c.2196T= (p.Asp732=) c.2043T= (p.Asp681=) c.2169T= (p.Asp723=) c.*2201T= (n.*2201T=) c.2220T= (p.Asp740=) c.2193T= (p.Asp731=) c.2067T= (p.Asp689=) c.2235T= (p.Asp745=) c.2208T= (p.Asp736=) c.2187T= (p.Asp729=) c.2184T= (p.Asp728=) c.2145T= (p.Asp715=) c.2118T= (p.Asp706=) c.2112T= (p.Asp704=) c.2109T= (p.Asp703=) c.2103T= (p.Asp701=) c.2094T= (p.Asp698=) c.2091T= (p.Asp697=) c.1977T= (p.Asp659=) c.1884T= (p.Asp628=) n.515+2606A= n.722+2606A= c.2172T= (p.Asp724=) c.1869T= (p.Asp623=) c.2097T= (p.Asp699=) n.4585T= n.5241T= n.5701T= | |
7 | g.148807691A>C | CA369711828 | EZH2 | n.4111T>G c.*1273T>G (n.*1273T>G) c.*1107T>G (n.*1107T>G) n.3930T>G n.4198T>G n.2527T>G n.2589T>G c.2211T>G (p.Asp737Glu) c.2079T>G (p.Asp693Glu) c.2196T>G (p.Asp732Glu) c.2043T>G (p.Asp681Glu) c.2169T>G (p.Asp723Glu) c.*2201T>G (n.*2201T>G) c.2220T>G (p.Asp740Glu) c.2193T>G (p.Asp731Glu) c.2067T>G (p.Asp689Glu) c.2235T>G (p.Asp745Glu) c.2208T>G (p.Asp736Glu) c.2187T>G (p.Asp729Glu) c.2184T>G (p.Asp728Glu) c.2145T>G (p.Asp715Glu) c.2118T>G (p.Asp706Glu) c.2112T>G (p.Asp704Glu) c.2109T>G (p.Asp703Glu) c.2103T>G (p.Asp701Glu) c.2094T>G (p.Asp698Glu) c.2091T>G (p.Asp697Glu) c.1977T>G (p.Asp659Glu) c.1884T>G (p.Asp628Glu) n.515+2606A>C n.722+2606A>C c.2172T>G (p.Asp724Glu) c.1869T>G (p.Asp623Glu) c.2097T>G (p.Asp699Glu) n.4585T>G n.5241T>G n.5701T>G | |
7 | g.148807691A>G | CA458345634 | EZH2 | n.4111T>C c.*1273T>C (n.*1273T>C) c.*1107T>C (n.*1107T>C) n.3930T>C n.4198T>C n.2527T>C n.2589T>C c.2211T>C (p.Asp737=) c.2079T>C (p.Asp693=) c.2196T>C (p.Asp732=) c.2043T>C (p.Asp681=) c.2169T>C (p.Asp723=) c.*2201T>C (n.*2201T>C) c.2220T>C (p.Asp740=) c.2193T>C (p.Asp731=) c.2067T>C (p.Asp689=) c.2235T>C (p.Asp745=) c.2208T>C (p.Asp736=) c.2187T>C (p.Asp729=) c.2184T>C (p.Asp728=) c.2145T>C (p.Asp715=) c.2118T>C (p.Asp706=) c.2112T>C (p.Asp704=) c.2109T>C (p.Asp703=) c.2103T>C (p.Asp701=) c.2094T>C (p.Asp698=) c.2091T>C (p.Asp697=) c.1977T>C (p.Asp659=) c.1884T>C (p.Asp628=) n.515+2606A>G n.722+2606A>G c.2172T>C (p.Asp724=) c.1869T>C (p.Asp623=) c.2097T>C (p.Asp699=) n.4585T>C n.5241T>C n.5701T>C | |
7 | g.148807691A>T | CA168905586 | EZH2 | n.4111T>A c.*1273T>A (n.*1273T>A) c.*1107T>A (n.*1107T>A) n.3930T>A n.4198T>A n.2527T>A n.2589T>A c.2211T>A (p.Asp737Glu) c.2079T>A (p.Asp693Glu) c.2196T>A (p.Asp732Glu) c.2043T>A (p.Asp681Glu) c.2169T>A (p.Asp723Glu) c.*2201T>A (n.*2201T>A) c.2220T>A (p.Asp740Glu) c.2193T>A (p.Asp731Glu) c.2067T>A (p.Asp689Glu) c.2235T>A (p.Asp745Glu) c.2208T>A (p.Asp736Glu) c.2187T>A (p.Asp729Glu) c.2184T>A (p.Asp728Glu) c.2145T>A (p.Asp715Glu) c.2118T>A (p.Asp706Glu) c.2112T>A (p.Asp704Glu) c.2109T>A (p.Asp703Glu) c.2103T>A (p.Asp701Glu) c.2094T>A (p.Asp698Glu) c.2091T>A (p.Asp697Glu) c.1977T>A (p.Asp659Glu) c.1884T>A (p.Asp628Glu) n.515+2606A>T n.722+2606A>T c.2172T>A (p.Asp724Glu) c.1869T>A (p.Asp623Glu) c.2097T>A (p.Asp699Glu) n.4585T>A n.5241T>A n.5701T>A | dbSNP gnomAD v3 gnomAD v4 |
7 | g.148807691dup | CA2695208605 | EZH2 | n.4111dup c.*1273dup (n.*1273dup) c.*1107dup (n.*1107dup) n.3930dup n.4198dup n.2527dup n.2589dup c.2211dup (p.Ala738CysfsTer25) c.2079dup (p.Ala694CysfsTer25) c.2196dup (p.Ala733CysfsTer25) c.2043dup (p.Ala682CysfsTer25) c.2169dup (p.Ala724CysfsTer25) c.*2201dup (n.*2201dup) c.2220dup (p.Ala741CysfsTer25) c.2193dup (p.Ala732CysfsTer25) c.2067dup (p.Ala690CysfsTer25) c.2235dup (p.Ala746CysfsTer25) c.2208dup (p.Ala737CysfsTer25) c.2187dup (p.Ala730CysfsTer25) c.2184dup (p.Ala729CysfsTer25) c.2145dup (p.Ala716CysfsTer25) c.2118dup (p.Ala707CysfsTer25) c.2112dup (p.Ala705CysfsTer25) c.2109dup (p.Ala704CysfsTer25) c.2103dup (p.Ala702CysfsTer25) c.2094dup (p.Ala699CysfsTer25) c.2091dup (p.Ala698CysfsTer25) c.1977dup (p.Ala660CysfsTer25) c.1884dup (p.Ala629CysfsTer25) n.515+2606dup n.722+2606dup c.2172dup (p.Ala725CysfsTer25) c.1869dup (p.Ala624CysfsTer25) c.2097dup (p.Ala700CysfsTer25) n.4585dup n.5241dup n.5701dup | |
7 | g.148807692_148807693insTCGAAAT | CA645563933 | EZH2 | n.4111_4112insTTCGAAT c.*1273_*1274insTTCGAAT (n.*1273_*1274insTTCGAAT) c.*1107_*1108insTTCGAAT (n.*1107_*1108insTTCGAAT) n.3930_3931insTTCGAAT n.4198_4199insTTCGAAT n.2527_2528insTTCGAAT n.2589_2590insTTCGAAT c.2211_2212insTTCGAAT (p.Ala738PhefsTer27) c.2079_2080insTTCGAAT (p.Ala694PhefsTer27) c.2196_2197insTTCGAAT (p.Ala733PhefsTer27) c.2043_2044insTTCGAAT (p.Ala682PhefsTer27) c.2169_2170insTTCGAAT (p.Ala724PhefsTer27) c.*2201_*2202insTTCGAAT (n.*2201_*2202insTTCGAAT) c.2220_2221insTTCGAAT (p.Ala741PhefsTer27) c.2193_2194insTTCGAAT (p.Ala732PhefsTer27) c.2067_2068insTTCGAAT (p.Ala690PhefsTer27) c.2235_2236insTTCGAAT (p.Ala746PhefsTer27) c.2208_2209insTTCGAAT (p.Ala737PhefsTer27) c.2187_2188insTTCGAAT (p.Ala730PhefsTer27) c.2184_2185insTTCGAAT (p.Ala729PhefsTer27) c.2145_2146insTTCGAAT (p.Ala716PhefsTer27) c.2118_2119insTTCGAAT (p.Ala707PhefsTer27) c.2112_2113insTTCGAAT (p.Ala705PhefsTer27) c.2109_2110insTTCGAAT (p.Ala704PhefsTer27) c.2103_2104insTTCGAAT (p.Ala702PhefsTer27) c.2094_2095insTTCGAAT (p.Ala699PhefsTer27) c.2091_2092insTTCGAAT (p.Ala698PhefsTer27) c.1977_1978insTTCGAAT (p.Ala660PhefsTer27) c.1884_1885insTTCGAAT (p.Ala629PhefsTer27) n.515+2607_515+2608insTCGAAAT n.722+2607_722+2608insTCGAAAT c.2172_2173insTTCGAAT (p.Ala725PhefsTer27) c.1869_1870insTTCGAAT (p.Ala624PhefsTer27) c.2097_2098insTTCGAAT (p.Ala700PhefsTer27) n.4585_4586insTTCGAAT n.5241_5242insTTCGAAT n.5701_5702insTTCGAAT | COSMIC |
7 | g.148807691_148807698dup | CA2580077667 | EZH2 | n.4104_4111dup c.*1266_*1273dup (n.*1266_*1273dup) c.*1100_*1107dup (n.*1100_*1107dup) n.3923_3930dup n.4191_4198dup n.2520_2527dup n.2582_2589dup c.2204_2211dup (p.Ala738ArgfsTer5) c.2072_2079dup (p.Ala694ArgfsTer5) c.2189_2196dup (p.Ala733ArgfsTer5) c.2036_2043dup (p.Ala682ArgfsTer5) c.2162_2169dup (p.Ala724ArgfsTer5) c.*2194_*2201dup (n.*2194_*2201dup) c.2213_2220dup (p.Ala741ArgfsTer5) c.2186_2193dup (p.Ala732ArgfsTer5) c.2060_2067dup (p.Ala690ArgfsTer5) c.2228_2235dup (p.Ala746ArgfsTer5) c.2201_2208dup (p.Ala737ArgfsTer5) c.2180_2187dup (p.Ala730ArgfsTer5) c.2177_2184dup (p.Ala729ArgfsTer5) c.2138_2145dup (p.Ala716ArgfsTer5) c.2111_2118dup (p.Ala707ArgfsTer5) c.2105_2112dup (p.Ala705ArgfsTer5) c.2102_2109dup (p.Ala704ArgfsTer5) c.2096_2103dup (p.Ala702ArgfsTer5) c.2087_2094dup (p.Ala699ArgfsTer5) c.2084_2091dup (p.Ala698ArgfsTer5) c.1970_1977dup (p.Ala660ArgfsTer5) c.1877_1884dup (p.Ala629ArgfsTer5) n.515+2606_515+2613dup n.722+2606_722+2613dup c.2165_2172dup (p.Ala725ArgfsTer5) c.1862_1869dup (p.Ala624ArgfsTer5) c.2090_2097dup (p.Ala700ArgfsTer5) n.4578_4585dup n.5234_5241dup n.5694_5701dup | ClinVar dbSNP |
7 | g.148807692T>A | CA369711829 | EZH2 | n.4110A>T c.*1272A>T (n.*1272A>T) c.*1106A>T (n.*1106A>T) n.3929A>T n.4197A>T n.2526A>T n.2588A>T c.2210A>T (p.Asp737Val) c.2078A>T (p.Asp693Val) c.2195A>T (p.Asp732Val) c.2042A>T (p.Asp681Val) c.2168A>T (p.Asp723Val) c.*2200A>T (n.*2200A>T) c.2219A>T (p.Asp740Val) c.2192A>T (p.Asp731Val) c.2066A>T (p.Asp689Val) c.2234A>T (p.Asp745Val) c.2207A>T (p.Asp736Val) c.2186A>T (p.Asp729Val) c.2183A>T (p.Asp728Val) c.2144A>T (p.Asp715Val) c.2117A>T (p.Asp706Val) c.2111A>T (p.Asp704Val) c.2108A>T (p.Asp703Val) c.2102A>T (p.Asp701Val) c.2093A>T (p.Asp698Val) c.2090A>T (p.Asp697Val) c.1976A>T (p.Asp659Val) c.1883A>T (p.Asp628Val) n.515+2607T>A n.722+2607T>A c.2171A>T (p.Asp724Val) c.1868A>T (p.Asp623Val) c.2096A>T (p.Asp699Val) n.4584A>T n.5240A>T n.5700A>T | |
7 | g.148807692T>C | CA369711830 | EZH2 | n.4110A>G c.*1272A>G (n.*1272A>G) c.*1106A>G (n.*1106A>G) n.3929A>G n.4197A>G n.2526A>G n.2588A>G c.2210A>G (p.Asp737Gly) c.2078A>G (p.Asp693Gly) c.2195A>G (p.Asp732Gly) c.2042A>G (p.Asp681Gly) c.2168A>G (p.Asp723Gly) c.*2200A>G (n.*2200A>G) c.2219A>G (p.Asp740Gly) c.2192A>G (p.Asp731Gly) c.2066A>G (p.Asp689Gly) c.2234A>G (p.Asp745Gly) c.2207A>G (p.Asp736Gly) c.2186A>G (p.Asp729Gly) c.2183A>G (p.Asp728Gly) c.2144A>G (p.Asp715Gly) c.2117A>G (p.Asp706Gly) c.2111A>G (p.Asp704Gly) c.2108A>G (p.Asp703Gly) c.2102A>G (p.Asp701Gly) c.2093A>G (p.Asp698Gly) c.2090A>G (p.Asp697Gly) c.1976A>G (p.Asp659Gly) c.1883A>G (p.Asp628Gly) n.515+2607T>C n.722+2607T>C c.2171A>G (p.Asp724Gly) c.1868A>G (p.Asp623Gly) c.2096A>G (p.Asp699Gly) n.4584A>G n.5240A>G n.5700A>G | |
7 | g.148807692T>G | CA369711831 | EZH2 | n.4110A>C c.*1272A>C (n.*1272A>C) c.*1106A>C (n.*1106A>C) n.3929A>C n.4197A>C n.2526A>C n.2588A>C c.2210A>C (p.Asp737Ala) c.2078A>C (p.Asp693Ala) c.2195A>C (p.Asp732Ala) c.2042A>C (p.Asp681Ala) c.2168A>C (p.Asp723Ala) c.*2200A>C (n.*2200A>C) c.2219A>C (p.Asp740Ala) c.2192A>C (p.Asp731Ala) c.2066A>C (p.Asp689Ala) c.2234A>C (p.Asp745Ala) c.2207A>C (p.Asp736Ala) c.2186A>C (p.Asp729Ala) c.2183A>C (p.Asp728Ala) c.2144A>C (p.Asp715Ala) c.2117A>C (p.Asp706Ala) c.2111A>C (p.Asp704Ala) c.2108A>C (p.Asp703Ala) c.2102A>C (p.Asp701Ala) c.2093A>C (p.Asp698Ala) c.2090A>C (p.Asp697Ala) c.1976A>C (p.Asp659Ala) c.1883A>C (p.Asp628Ala) n.515+2607T>G n.722+2607T>G c.2171A>C (p.Asp724Ala) c.1868A>C (p.Asp623Ala) c.2096A>C (p.Asp699Ala) n.4584A>C n.5240A>C n.5700A>C | |
7 | g.148807693C>A | CA369711832 | EZH2 | n.4109G>T c.*1271G>T (n.*1271G>T) c.*1105G>T (n.*1105G>T) n.3928G>T n.4196G>T n.2525G>T n.2587G>T c.2209G>T (p.Asp737Tyr) c.2077G>T (p.Asp693Tyr) c.2194G>T (p.Asp732Tyr) c.2041G>T (p.Asp681Tyr) c.2167G>T (p.Asp723Tyr) c.*2199G>T (n.*2199G>T) c.2218G>T (p.Asp740Tyr) c.2191G>T (p.Asp731Tyr) c.2065G>T (p.Asp689Tyr) c.2233G>T (p.Asp745Tyr) c.2206G>T (p.Asp736Tyr) c.2185G>T (p.Asp729Tyr) c.2182G>T (p.Asp728Tyr) c.2143G>T (p.Asp715Tyr) c.2116G>T (p.Asp706Tyr) c.2110G>T (p.Asp704Tyr) c.2107G>T (p.Asp703Tyr) c.2101G>T (p.Asp701Tyr) c.2092G>T (p.Asp698Tyr) c.2089G>T (p.Asp697Tyr) c.1975G>T (p.Asp659Tyr) c.1882G>T (p.Asp628Tyr) n.515+2608C>A n.722+2608C>A c.2170G>T (p.Asp724Tyr) c.1867G>T (p.Asp623Tyr) c.2095G>T (p.Asp699Tyr) n.4583G>T n.5239G>T n.5699G>T | gnomAD v4 |
7 | g.148807693C>G | CA369711833 | EZH2 | n.4109G>C c.*1271G>C (n.*1271G>C) c.*1105G>C (n.*1105G>C) n.3928G>C n.4196G>C n.2525G>C n.2587G>C c.2209G>C (p.Asp737His) c.2077G>C (p.Asp693His) c.2194G>C (p.Asp732His) c.2041G>C (p.Asp681His) c.2167G>C (p.Asp723His) c.*2199G>C (n.*2199G>C) c.2218G>C (p.Asp740His) c.2191G>C (p.Asp731His) c.2065G>C (p.Asp689His) c.2233G>C (p.Asp745His) c.2206G>C (p.Asp736His) c.2185G>C (p.Asp729His) c.2182G>C (p.Asp728His) c.2143G>C (p.Asp715His) c.2116G>C (p.Asp706His) c.2110G>C (p.Asp704His) c.2107G>C (p.Asp703His) c.2101G>C (p.Asp701His) c.2092G>C (p.Asp698His) c.2089G>C (p.Asp697His) c.1975G>C (p.Asp659His) c.1882G>C (p.Asp628His) n.515+2608C>G n.722+2608C>G c.2170G>C (p.Asp724His) c.1867G>C (p.Asp623His) c.2095G>C (p.Asp699His) n.4583G>C n.5239G>C n.5699G>C | |
7 | g.148807693C>T | CA369711834 | EZH2 | n.4109G>A c.*1271G>A (n.*1271G>A) c.*1105G>A (n.*1105G>A) n.3928G>A n.4196G>A n.2525G>A n.2587G>A c.2209G>A (p.Asp737Asn) c.2077G>A (p.Asp693Asn) c.2194G>A (p.Asp732Asn) c.2041G>A (p.Asp681Asn) c.2167G>A (p.Asp723Asn) c.*2199G>A (n.*2199G>A) c.2218G>A (p.Asp740Asn) c.2191G>A (p.Asp731Asn) c.2065G>A (p.Asp689Asn) c.2233G>A (p.Asp745Asn) c.2206G>A (p.Asp736Asn) c.2185G>A (p.Asp729Asn) c.2182G>A (p.Asp728Asn) c.2143G>A (p.Asp715Asn) c.2116G>A (p.Asp706Asn) c.2110G>A (p.Asp704Asn) c.2107G>A (p.Asp703Asn) c.2101G>A (p.Asp701Asn) c.2092G>A (p.Asp698Asn) c.2089G>A (p.Asp697Asn) c.1975G>A (p.Asp659Asn) c.1882G>A (p.Asp628Asn) n.515+2608C>T n.722+2608C>T c.2170G>A (p.Asp724Asn) c.1867G>A (p.Asp623Asn) c.2095G>A (p.Asp699Asn) n.4583G>A n.5239G>A n.5699G>A | gnomAD v4 |
7 | g.148807694A>C | CA458345635 | EZH2 | n.4108T>G c.*1270T>G (n.*1270T>G) c.*1104T>G (n.*1104T>G) n.3927T>G n.4195T>G n.2524T>G n.2586T>G c.2208T>G (p.Ala736=) c.2076T>G (p.Ala692=) c.2193T>G (p.Ala731=) c.2040T>G (p.Ala680=) c.2166T>G (p.Ala722=) c.*2198T>G (n.*2198T>G) c.2217T>G (p.Ala739=) c.2190T>G (p.Ala730=) c.2064T>G (p.Ala688=) c.2232T>G (p.Ala744=) c.2205T>G (p.Ala735=) c.2184T>G (p.Ala728=) c.2181T>G (p.Ala727=) c.2142T>G (p.Ala714=) c.2115T>G (p.Ala705=) c.2109T>G (p.Ala703=) c.2106T>G (p.Ala702=) c.2100T>G (p.Ala700=) c.2091T>G (p.Ala697=) c.2088T>G (p.Ala696=) c.1974T>G (p.Ala658=) c.1881T>G (p.Ala627=) n.515+2609A>C n.722+2609A>C c.2169T>G (p.Ala723=) c.1866T>G (p.Ala622=) c.2094T>G (p.Ala698=) n.4582T>G n.5238T>G n.5698T>G | |
7 | g.148807694A>G | CA458345636 | EZH2 | n.4108T>C c.*1270T>C (n.*1270T>C) c.*1104T>C (n.*1104T>C) n.3927T>C n.4195T>C n.2524T>C n.2586T>C c.2208T>C (p.Ala736=) c.2076T>C (p.Ala692=) c.2193T>C (p.Ala731=) c.2040T>C (p.Ala680=) c.2166T>C (p.Ala722=) c.*2198T>C (n.*2198T>C) c.2217T>C (p.Ala739=) c.2190T>C (p.Ala730=) c.2064T>C (p.Ala688=) c.2232T>C (p.Ala744=) c.2205T>C (p.Ala735=) c.2184T>C (p.Ala728=) c.2181T>C (p.Ala727=) c.2142T>C (p.Ala714=) c.2115T>C (p.Ala705=) c.2109T>C (p.Ala703=) c.2106T>C (p.Ala702=) c.2100T>C (p.Ala700=) c.2091T>C (p.Ala697=) c.2088T>C (p.Ala696=) c.1974T>C (p.Ala658=) c.1881T>C (p.Ala627=) n.515+2609A>G n.722+2609A>G c.2169T>C (p.Ala723=) c.1866T>C (p.Ala622=) c.2094T>C (p.Ala698=) n.4582T>C n.5238T>C n.5698T>C | gnomAD v4 |
7 | g.148807694A>T | CA458345637 | EZH2 | n.4108T>A c.*1270T>A (n.*1270T>A) c.*1104T>A (n.*1104T>A) n.3927T>A n.4195T>A n.2524T>A n.2586T>A c.2208T>A (p.Ala736=) c.2076T>A (p.Ala692=) c.2193T>A (p.Ala731=) c.2040T>A (p.Ala680=) c.2166T>A (p.Ala722=) c.*2198T>A (n.*2198T>A) c.2217T>A (p.Ala739=) c.2190T>A (p.Ala730=) c.2064T>A (p.Ala688=) c.2232T>A (p.Ala744=) c.2205T>A (p.Ala735=) c.2184T>A (p.Ala728=) c.2181T>A (p.Ala727=) c.2142T>A (p.Ala714=) c.2115T>A (p.Ala705=) c.2109T>A (p.Ala703=) c.2106T>A (p.Ala702=) c.2100T>A (p.Ala700=) c.2091T>A (p.Ala697=) c.2088T>A (p.Ala696=) c.1974T>A (p.Ala658=) c.1881T>A (p.Ala627=) n.515+2609A>T n.722+2609A>T c.2169T>A (p.Ala723=) c.1866T>A (p.Ala622=) c.2094T>A (p.Ala698=) n.4582T>A n.5238T>A n.5698T>A | gnomAD v4 |
7 | g.148807695G>A | CA369711835 | EZH2 | n.4107C>T c.*1269C>T (n.*1269C>T) c.*1103C>T (n.*1103C>T) n.3926C>T n.4194C>T n.2523C>T n.2585C>T c.2207C>T (p.Ala736Val) c.2075C>T (p.Ala692Val) c.2192C>T (p.Ala731Val) c.2039C>T (p.Ala680Val) c.2165C>T (p.Ala722Val) c.*2197C>T (n.*2197C>T) c.2216C>T (p.Ala739Val) c.2189C>T (p.Ala730Val) c.2063C>T (p.Ala688Val) c.2231C>T (p.Ala744Val) c.2204C>T (p.Ala735Val) c.2183C>T (p.Ala728Val) c.2180C>T (p.Ala727Val) c.2141C>T (p.Ala714Val) c.2114C>T (p.Ala705Val) c.2108C>T (p.Ala703Val) c.2105C>T (p.Ala702Val) c.2099C>T (p.Ala700Val) c.2090C>T (p.Ala697Val) c.2087C>T (p.Ala696Val) c.1973C>T (p.Ala658Val) c.1880C>T (p.Ala627Val) n.515+2610G>A n.722+2610G>A c.2168C>T (p.Ala723Val) c.1865C>T (p.Ala622Val) c.2093C>T (p.Ala698Val) n.4581C>T n.5237C>T n.5697C>T | dbSNP |
7 | g.148807695G>C | CA369711836 | EZH2 | n.4107C>G c.*1269C>G (n.*1269C>G) c.*1103C>G (n.*1103C>G) n.3926C>G n.4194C>G n.2523C>G n.2585C>G c.2207C>G (p.Ala736Gly) c.2075C>G (p.Ala692Gly) c.2192C>G (p.Ala731Gly) c.2039C>G (p.Ala680Gly) c.2165C>G (p.Ala722Gly) c.*2197C>G (n.*2197C>G) c.2216C>G (p.Ala739Gly) c.2189C>G (p.Ala730Gly) c.2063C>G (p.Ala688Gly) c.2231C>G (p.Ala744Gly) c.2204C>G (p.Ala735Gly) c.2183C>G (p.Ala728Gly) c.2180C>G (p.Ala727Gly) c.2141C>G (p.Ala714Gly) c.2114C>G (p.Ala705Gly) c.2108C>G (p.Ala703Gly) c.2105C>G (p.Ala702Gly) c.2099C>G (p.Ala700Gly) c.2090C>G (p.Ala697Gly) c.2087C>G (p.Ala696Gly) c.1973C>G (p.Ala658Gly) c.1880C>G (p.Ala627Gly) n.515+2610G>C n.722+2610G>C c.2168C>G (p.Ala723Gly) c.1865C>G (p.Ala622Gly) c.2093C>G (p.Ala698Gly) n.4581C>G n.5237C>G n.5697C>G | |
7 | g.148807695G>T | CA369711837 | EZH2 | n.4107C>A c.*1269C>A (n.*1269C>A) c.*1103C>A (n.*1103C>A) n.3926C>A n.4194C>A n.2523C>A n.2585C>A c.2207C>A (p.Ala736Asp) c.2075C>A (p.Ala692Asp) c.2192C>A (p.Ala731Asp) c.2039C>A (p.Ala680Asp) c.2165C>A (p.Ala722Asp) c.*2197C>A (n.*2197C>A) c.2216C>A (p.Ala739Asp) c.2189C>A (p.Ala730Asp) c.2063C>A (p.Ala688Asp) c.2231C>A (p.Ala744Asp) c.2204C>A (p.Ala735Asp) c.2183C>A (p.Ala728Asp) c.2180C>A (p.Ala727Asp) c.2141C>A (p.Ala714Asp) c.2114C>A (p.Ala705Asp) c.2108C>A (p.Ala703Asp) c.2105C>A (p.Ala702Asp) c.2099C>A (p.Ala700Asp) c.2090C>A (p.Ala697Asp) c.2087C>A (p.Ala696Asp) c.1973C>A (p.Ala658Asp) c.1880C>A (p.Ala627Asp) n.515+2610G>T n.722+2610G>T c.2168C>A (p.Ala723Asp) c.1865C>A (p.Ala622Asp) c.2093C>A (p.Ala698Asp) n.4581C>A n.5237C>A n.5697C>A | gnomAD v4 |
7 | g.148807701_148807702insGGGCCTGGC | CA891842040 | EZH2 | n.4107_4108insCCGCCAGGC c.*1269_*1270insCCGCCAGGC (n.*1269_*1270insCCGCCAGGC) c.*1103_*1104insCCGCCAGGC (n.*1103_*1104insCCGCCAGGC) n.3926_3927insCCGCCAGGC n.4194_4195insCCGCCAGGC n.2523_2524insCCGCCAGGC n.2585_2586insCCGCCAGGC c.2207_2208insCCGCCAGGC (p.Ala736_Asp737insArgGlnAla) c.2075_2076insCCGCCAGGC (p.Ala692_Asp693insArgGlnAla) c.2192_2193insCCGCCAGGC (p.Ala731_Asp732insArgGlnAla) c.2039_2040insCCGCCAGGC (p.Ala680_Asp681insArgGlnAla) c.2165_2166insCCGCCAGGC (p.Ala722_Asp723insArgGlnAla) c.*2197_*2198insCCGCCAGGC (n.*2197_*2198insCCGCCAGGC) c.2216_2217insCCGCCAGGC (p.Ala739_Asp740insArgGlnAla) c.2189_2190insCCGCCAGGC (p.Ala730_Asp731insArgGlnAla) c.2063_2064insCCGCCAGGC (p.Ala688_Asp689insArgGlnAla) c.2231_2232insCCGCCAGGC (p.Ala744_Asp745insArgGlnAla) c.2204_2205insCCGCCAGGC (p.Ala735_Asp736insArgGlnAla) c.2183_2184insCCGCCAGGC (p.Ala728_Asp729insArgGlnAla) c.2180_2181insCCGCCAGGC (p.Ala727_Asp728insArgGlnAla) c.2141_2142insCCGCCAGGC (p.Ala714_Asp715insArgGlnAla) c.2114_2115insCCGCCAGGC (p.Ala705_Asp706insArgGlnAla) c.2108_2109insCCGCCAGGC (p.Ala703_Asp704insArgGlnAla) c.2105_2106insCCGCCAGGC (p.Ala702_Asp703insArgGlnAla) c.2099_2100insCCGCCAGGC (p.Ala700_Asp701insArgGlnAla) c.2090_2091insCCGCCAGGC (p.Ala697_Asp698insArgGlnAla) c.2087_2088insCCGCCAGGC (p.Ala696_Asp697insArgGlnAla) c.1973_1974insCCGCCAGGC (p.Ala658_Asp659insArgGlnAla) c.1880_1881insCCGCCAGGC (p.Ala627_Asp628insArgGlnAla) n.515+2616_515+2617insGGGCCTGGC n.722+2616_722+2617insGGGCCTGGC c.2168_2169insCCGCCAGGC (p.Ala723_Asp724insArgGlnAla) c.1865_1866insCCGCCAGGC (p.Ala622_Asp623insArgGlnAla) c.2093_2094insCCGCCAGGC (p.Ala698_Asp699insArgGlnAla) n.4581_4582insCCGCCAGGC n.5237_5238insCCGCCAGGC n.5697_5698insCCGCCAGGC | |
7 | g.148807696C>A | CA369711840 | EZH2 | n.4106G>T c.*1268G>T (n.*1268G>T) c.*1102G>T (n.*1102G>T) n.3925G>T n.4193G>T n.2522G>T n.2584G>T c.2206G>T (p.Ala736Ser) c.2074G>T (p.Ala692Ser) c.2191G>T (p.Ala731Ser) c.2038G>T (p.Ala680Ser) c.2164G>T (p.Ala722Ser) c.*2196G>T (n.*2196G>T) c.2215G>T (p.Ala739Ser) c.2188G>T (p.Ala730Ser) c.2062G>T (p.Ala688Ser) c.2230G>T (p.Ala744Ser) c.2203G>T (p.Ala735Ser) c.2182G>T (p.Ala728Ser) c.2179G>T (p.Ala727Ser) c.2140G>T (p.Ala714Ser) c.2113G>T (p.Ala705Ser) c.2107G>T (p.Ala703Ser) c.2104G>T (p.Ala702Ser) c.2098G>T (p.Ala700Ser) c.2089G>T (p.Ala697Ser) c.2086G>T (p.Ala696Ser) c.1972G>T (p.Ala658Ser) c.1879G>T (p.Ala627Ser) n.515+2611C>A n.722+2611C>A c.2167G>T (p.Ala723Ser) c.1864G>T (p.Ala622Ser) c.2092G>T (p.Ala698Ser) n.4580G>T n.5236G>T n.5696G>T | dbSNP gnomAD v4 |
7 | g.148807696C>G | CA369711839 | EZH2 | n.4106G>C c.*1268G>C (n.*1268G>C) c.*1102G>C (n.*1102G>C) n.3925G>C n.4193G>C n.2522G>C n.2584G>C c.2206G>C (p.Ala736Pro) c.2074G>C (p.Ala692Pro) c.2191G>C (p.Ala731Pro) c.2038G>C (p.Ala680Pro) c.2164G>C (p.Ala722Pro) c.*2196G>C (n.*2196G>C) c.2215G>C (p.Ala739Pro) c.2188G>C (p.Ala730Pro) c.2062G>C (p.Ala688Pro) c.2230G>C (p.Ala744Pro) c.2203G>C (p.Ala735Pro) c.2182G>C (p.Ala728Pro) c.2179G>C (p.Ala727Pro) c.2140G>C (p.Ala714Pro) c.2113G>C (p.Ala705Pro) c.2107G>C (p.Ala703Pro) c.2104G>C (p.Ala702Pro) c.2098G>C (p.Ala700Pro) c.2089G>C (p.Ala697Pro) c.2086G>C (p.Ala696Pro) c.1972G>C (p.Ala658Pro) c.1879G>C (p.Ala627Pro) n.515+2611C>G n.722+2611C>G c.2167G>C (p.Ala723Pro) c.1864G>C (p.Ala622Pro) c.2092G>C (p.Ala698Pro) n.4580G>C n.5236G>C n.5696G>C | |
7 | g.148807696C>T | CA369711838 | EZH2 | n.4106G>A c.*1268G>A (n.*1268G>A) c.*1102G>A (n.*1102G>A) n.3925G>A n.4193G>A n.2522G>A n.2584G>A c.2206G>A (p.Ala736Thr) c.2074G>A (p.Ala692Thr) c.2191G>A (p.Ala731Thr) c.2038G>A (p.Ala680Thr) c.2164G>A (p.Ala722Thr) c.*2196G>A (n.*2196G>A) c.2215G>A (p.Ala739Thr) c.2188G>A (p.Ala730Thr) c.2062G>A (p.Ala688Thr) c.2230G>A (p.Ala744Thr) c.2203G>A (p.Ala735Thr) c.2182G>A (p.Ala728Thr) c.2179G>A (p.Ala727Thr) c.2140G>A (p.Ala714Thr) c.2113G>A (p.Ala705Thr) c.2107G>A (p.Ala703Thr) c.2104G>A (p.Ala702Thr) c.2098G>A (p.Ala700Thr) c.2089G>A (p.Ala697Thr) c.2086G>A (p.Ala696Thr) c.1972G>A (p.Ala658Thr) c.1879G>A (p.Ala627Thr) n.515+2611C>T n.722+2611C>T c.2167G>A (p.Ala723Thr) c.1864G>A (p.Ala622Thr) c.2092G>A (p.Ala698Thr) n.4580G>A n.5236G>A n.5696G>A | dbSNP |
7 | g.148807697C>A | CA369711841 | EZH2 | n.4105G>T c.*1267G>T (n.*1267G>T) c.*1101G>T (n.*1101G>T) n.3924G>T n.4192G>T n.2521G>T n.2583G>T c.2205G>T (p.Gln735His) c.2073G>T (p.Gln691His) c.2190G>T (p.Gln730His) c.2037G>T (p.Gln679His) c.2163G>T (p.Gln721His) c.*2195G>T (n.*2195G>T) c.2214G>T (p.Gln738His) c.2187G>T (p.Gln729His) c.2061G>T (p.Gln687His) c.2229G>T (p.Gln743His) c.2202G>T (p.Gln734His) c.2181G>T (p.Gln727His) c.2178G>T (p.Gln726His) c.2139G>T (p.Gln713His) c.2112G>T (p.Gln704His) c.2106G>T (p.Gln702His) c.2103G>T (p.Gln701His) c.2097G>T (p.Gln699His) c.2088G>T (p.Gln696His) c.2085G>T (p.Gln695His) c.1971G>T (p.Gln657His) c.1878G>T (p.Gln626His) n.515+2612C>A n.722+2612C>A c.2166G>T (p.Gln722His) c.1863G>T (p.Gln621His) c.2091G>T (p.Gln697His) n.4579G>T n.5235G>T n.5695G>T | dbSNP |
7 | g.148807697C>G | CA369711842 | EZH2 | n.4105G>C c.*1267G>C (n.*1267G>C) c.*1101G>C (n.*1101G>C) n.3924G>C n.4192G>C n.2521G>C n.2583G>C c.2205G>C (p.Gln735His) c.2073G>C (p.Gln691His) c.2190G>C (p.Gln730His) c.2037G>C (p.Gln679His) c.2163G>C (p.Gln721His) c.*2195G>C (n.*2195G>C) c.2214G>C (p.Gln738His) c.2187G>C (p.Gln729His) c.2061G>C (p.Gln687His) c.2229G>C (p.Gln743His) c.2202G>C (p.Gln734His) c.2181G>C (p.Gln727His) c.2178G>C (p.Gln726His) c.2139G>C (p.Gln713His) c.2112G>C (p.Gln704His) c.2106G>C (p.Gln702His) c.2103G>C (p.Gln701His) c.2097G>C (p.Gln699His) c.2088G>C (p.Gln696His) c.2085G>C (p.Gln695His) c.1971G>C (p.Gln657His) c.1878G>C (p.Gln626His) n.515+2612C>G n.722+2612C>G c.2166G>C (p.Gln722His) c.1863G>C (p.Gln621His) c.2091G>C (p.Gln697His) n.4579G>C n.5235G>C n.5695G>C | |
7 | g.148807697C>T | CA458345638 | EZH2 | n.4105G>A c.*1267G>A (n.*1267G>A) c.*1101G>A (n.*1101G>A) n.3924G>A n.4192G>A n.2521G>A n.2583G>A c.2205G>A (p.Gln735=) c.2073G>A (p.Gln691=) c.2190G>A (p.Gln730=) c.2037G>A (p.Gln679=) c.2163G>A (p.Gln721=) c.*2195G>A (n.*2195G>A) c.2214G>A (p.Gln738=) c.2187G>A (p.Gln729=) c.2061G>A (p.Gln687=) c.2229G>A (p.Gln743=) c.2202G>A (p.Gln734=) c.2181G>A (p.Gln727=) c.2178G>A (p.Gln726=) c.2139G>A (p.Gln713=) c.2112G>A (p.Gln704=) c.2106G>A (p.Gln702=) c.2103G>A (p.Gln701=) c.2097G>A (p.Gln699=) c.2088G>A (p.Gln696=) c.2085G>A (p.Gln695=) c.1971G>A (p.Gln657=) c.1878G>A (p.Gln626=) n.515+2612C>T n.722+2612C>T c.2166G>A (p.Gln722=) c.1863G>A (p.Gln621=) c.2091G>A (p.Gln697=) n.4579G>A n.5235G>A n.5695G>A | |
7 | g.148807698T>A | CA369711843 | EZH2 | n.4104A>T c.*1266A>T (n.*1266A>T) c.*1100A>T (n.*1100A>T) n.3923A>T n.4191A>T n.2520A>T n.2582A>T c.2204A>T (p.Gln735Leu) c.2072A>T (p.Gln691Leu) c.2189A>T (p.Gln730Leu) c.2036A>T (p.Gln679Leu) c.2162A>T (p.Gln721Leu) c.*2194A>T (n.*2194A>T) c.2213A>T (p.Gln738Leu) c.2186A>T (p.Gln729Leu) c.2060A>T (p.Gln687Leu) c.2228A>T (p.Gln743Leu) c.2201A>T (p.Gln734Leu) c.2180A>T (p.Gln727Leu) c.2177A>T (p.Gln726Leu) c.2138A>T (p.Gln713Leu) c.2111A>T (p.Gln704Leu) c.2105A>T (p.Gln702Leu) c.2102A>T (p.Gln701Leu) c.2096A>T (p.Gln699Leu) c.2087A>T (p.Gln696Leu) c.2084A>T (p.Gln695Leu) c.1970A>T (p.Gln657Leu) c.1877A>T (p.Gln626Leu) n.515+2613T>A n.722+2613T>A c.2165A>T (p.Gln722Leu) c.1862A>T (p.Gln621Leu) c.2090A>T (p.Gln697Leu) n.4578A>T n.5234A>T n.5694A>T | |
7 | g.148807698T>C | CA369711844 | EZH2 | n.4104A>G c.*1266A>G (n.*1266A>G) c.*1100A>G (n.*1100A>G) n.3923A>G n.4191A>G n.2520A>G n.2582A>G c.2204A>G (p.Gln735Arg) c.2072A>G (p.Gln691Arg) c.2189A>G (p.Gln730Arg) c.2036A>G (p.Gln679Arg) c.2162A>G (p.Gln721Arg) c.*2194A>G (n.*2194A>G) c.2213A>G (p.Gln738Arg) c.2186A>G (p.Gln729Arg) c.2060A>G (p.Gln687Arg) c.2228A>G (p.Gln743Arg) c.2201A>G (p.Gln734Arg) c.2180A>G (p.Gln727Arg) c.2177A>G (p.Gln726Arg) c.2138A>G (p.Gln713Arg) c.2111A>G (p.Gln704Arg) c.2105A>G (p.Gln702Arg) c.2102A>G (p.Gln701Arg) c.2096A>G (p.Gln699Arg) c.2087A>G (p.Gln696Arg) c.2084A>G (p.Gln695Arg) c.1970A>G (p.Gln657Arg) c.1877A>G (p.Gln626Arg) n.515+2613T>C n.722+2613T>C c.2165A>G (p.Gln722Arg) c.1862A>G (p.Gln621Arg) c.2090A>G (p.Gln697Arg) n.4578A>G n.5234A>G n.5694A>G | |
7 | g.148807698T>G | CA369711845 | EZH2 | n.4104A>C c.*1266A>C (n.*1266A>C) c.*1100A>C (n.*1100A>C) n.3923A>C n.4191A>C n.2520A>C n.2582A>C c.2204A>C (p.Gln735Pro) c.2072A>C (p.Gln691Pro) c.2189A>C (p.Gln730Pro) c.2036A>C (p.Gln679Pro) c.2162A>C (p.Gln721Pro) c.*2194A>C (n.*2194A>C) c.2213A>C (p.Gln738Pro) c.2186A>C (p.Gln729Pro) c.2060A>C (p.Gln687Pro) c.2228A>C (p.Gln743Pro) c.2201A>C (p.Gln734Pro) c.2180A>C (p.Gln727Pro) c.2177A>C (p.Gln726Pro) c.2138A>C (p.Gln713Pro) c.2111A>C (p.Gln704Pro) c.2105A>C (p.Gln702Pro) c.2102A>C (p.Gln701Pro) c.2096A>C (p.Gln699Pro) c.2087A>C (p.Gln696Pro) c.2084A>C (p.Gln695Pro) c.1970A>C (p.Gln657Pro) c.1877A>C (p.Gln626Pro) n.515+2613T>G n.722+2613T>G c.2165A>C (p.Gln722Pro) c.1862A>C (p.Gln621Pro) c.2090A>C (p.Gln697Pro) n.4578A>C n.5234A>C n.5694A>C | |
7 | g.148807698_148807700del | CA645563934 | EZH2 | n.4102_4104del c.*1264_*1266del (n.*1264_*1266del) c.*1098_*1100del (n.*1098_*1100del) n.3921_3923del n.4189_4191del n.2518_2520del n.2580_2582del c.2202_2204del (p.Ser734_Gln735delinsArg) c.2070_2072del (p.Ser690_Gln691delinsArg) c.2187_2189del (p.Ser729_Gln730delinsArg) c.2034_2036del (p.Ser678_Gln679delinsArg) c.2160_2162del (p.Ser720_Gln721delinsArg) c.*2192_*2194del (n.*2192_*2194del) c.2211_2213del (p.Ser737_Gln738delinsArg) c.2184_2186del (p.Ser728_Gln729delinsArg) c.2058_2060del (p.Ser686_Gln687delinsArg) c.2226_2228del (p.Ser742_Gln743delinsArg) c.2199_2201del (p.Ser733_Gln734delinsArg) c.2178_2180del (p.Ser726_Gln727delinsArg) c.2175_2177del (p.Ser725_Gln726delinsArg) c.2136_2138del (p.Ser712_Gln713delinsArg) c.2109_2111del (p.Ser703_Gln704delinsArg) c.2103_2105del (p.Ser701_Gln702delinsArg) c.2100_2102del (p.Ser700_Gln701delinsArg) c.2094_2096del (p.Ser698_Gln699delinsArg) c.2085_2087del (p.Ser695_Gln696delinsArg) c.2082_2084del (p.Ser694_Gln695delinsArg) c.1968_1970del (p.Ser656_Gln657delinsArg) c.1875_1877del (p.Ser625_Gln626delinsArg) n.515+2613_515+2615del n.722+2613_722+2615del c.2163_2165del (p.Ser721_Gln722delinsArg) c.1860_1862del (p.Ser620_Gln621delinsArg) c.2088_2090del (p.Ser696_Gln697delinsArg) n.4576_4578del n.5232_5234del n.5692_5694del | COSMIC |
7 | g.148807699G>A | CA369711846 | EZH2 | n.4103C>T c.*1265C>T (n.*1265C>T) c.*1099C>T (n.*1099C>T) n.3922C>T n.4190C>T n.2519C>T n.2581C>T c.2203C>T (p.Gln735Ter) c.2071C>T (p.Gln691Ter) c.2188C>T (p.Gln730Ter) c.2035C>T (p.Gln679Ter) c.2161C>T (p.Gln721Ter) c.*2193C>T (n.*2193C>T) c.2212C>T (p.Gln738Ter) c.2185C>T (p.Gln729Ter) c.2059C>T (p.Gln687Ter) c.2227C>T (p.Gln743Ter) c.2200C>T (p.Gln734Ter) c.2179C>T (p.Gln727Ter) c.2176C>T (p.Gln726Ter) c.2137C>T (p.Gln713Ter) c.2110C>T (p.Gln704Ter) c.2104C>T (p.Gln702Ter) c.2101C>T (p.Gln701Ter) c.2095C>T (p.Gln699Ter) c.2086C>T (p.Gln696Ter) c.2083C>T (p.Gln695Ter) c.1969C>T (p.Gln657Ter) c.1876C>T (p.Gln626Ter) n.515+2614G>A n.722+2614G>A c.2164C>T (p.Gln722Ter) c.1861C>T (p.Gln621Ter) c.2089C>T (p.Gln697Ter) n.4577C>T n.5233C>T n.5693C>T | ClinVar dbSNP |
7 | g.148807699G>C | CA369711847 | EZH2 | n.4103C>G c.*1265C>G (n.*1265C>G) c.*1099C>G (n.*1099C>G) n.3922C>G n.4190C>G n.2519C>G n.2581C>G c.2203C>G (p.Gln735Glu) c.2071C>G (p.Gln691Glu) c.2188C>G (p.Gln730Glu) c.2035C>G (p.Gln679Glu) c.2161C>G (p.Gln721Glu) c.*2193C>G (n.*2193C>G) c.2212C>G (p.Gln738Glu) c.2185C>G (p.Gln729Glu) c.2059C>G (p.Gln687Glu) c.2227C>G (p.Gln743Glu) c.2200C>G (p.Gln734Glu) c.2179C>G (p.Gln727Glu) c.2176C>G (p.Gln726Glu) c.2137C>G (p.Gln713Glu) c.2110C>G (p.Gln704Glu) c.2104C>G (p.Gln702Glu) c.2101C>G (p.Gln701Glu) c.2095C>G (p.Gln699Glu) c.2086C>G (p.Gln696Glu) c.2083C>G (p.Gln695Glu) c.1969C>G (p.Gln657Glu) c.1876C>G (p.Gln626Glu) n.515+2614G>C n.722+2614G>C c.2164C>G (p.Gln722Glu) c.1861C>G (p.Gln621Glu) c.2089C>G (p.Gln697Glu) n.4577C>G n.5233C>G n.5693C>G | |
7 | g.148807699G= | CA1751419322 | EZH2 | n.4103C= c.*1265C= (n.*1265C=) c.*1099C= (n.*1099C=) n.3922C= n.4190C= n.2519C= n.2581C= c.2203C= (p.Gln735=) c.2071C= (p.Gln691=) c.2188C= (p.Gln730=) c.2035C= (p.Gln679=) c.2161C= (p.Gln721=) c.*2193C= (n.*2193C=) c.2212C= (p.Gln738=) c.2185C= (p.Gln729=) c.2059C= (p.Gln687=) c.2227C= (p.Gln743=) c.2200C= (p.Gln734=) c.2179C= (p.Gln727=) c.2176C= (p.Gln726=) c.2137C= (p.Gln713=) c.2110C= (p.Gln704=) c.2104C= (p.Gln702=) c.2101C= (p.Gln701=) c.2095C= (p.Gln699=) c.2086C= (p.Gln696=) c.2083C= (p.Gln695=) c.1969C= (p.Gln657=) c.1876C= (p.Gln626=) n.515+2614G= n.722+2614G= c.2164C= (p.Gln722=) c.1861C= (p.Gln621=) c.2089C= (p.Gln697=) n.4577C= n.5233C= n.5693C= | |
7 | g.148807699G>T | CA369711848 | EZH2 | n.4103C>A c.*1265C>A (n.*1265C>A) c.*1099C>A (n.*1099C>A) n.3922C>A n.4190C>A n.2519C>A n.2581C>A c.2203C>A (p.Gln735Lys) c.2071C>A (p.Gln691Lys) c.2188C>A (p.Gln730Lys) c.2035C>A (p.Gln679Lys) c.2161C>A (p.Gln721Lys) c.*2193C>A (n.*2193C>A) c.2212C>A (p.Gln738Lys) c.2185C>A (p.Gln729Lys) c.2059C>A (p.Gln687Lys) c.2227C>A (p.Gln743Lys) c.2200C>A (p.Gln734Lys) c.2179C>A (p.Gln727Lys) c.2176C>A (p.Gln726Lys) c.2137C>A (p.Gln713Lys) c.2110C>A (p.Gln704Lys) c.2104C>A (p.Gln702Lys) c.2101C>A (p.Gln701Lys) c.2095C>A (p.Gln699Lys) c.2086C>A (p.Gln696Lys) c.2083C>A (p.Gln695Lys) c.1969C>A (p.Gln657Lys) c.1876C>A (p.Gln626Lys) n.515+2614G>T n.722+2614G>T c.2164C>A (p.Gln722Lys) c.1861C>A (p.Gln621Lys) c.2089C>A (p.Gln697Lys) n.4577C>A n.5233C>A n.5693C>A | gnomAD v4 |
7 | g.148807700del | CA645563935 | EZH2 | n.4103del c.*1265del (n.*1265del) c.*1099del (n.*1099del) n.3922del n.4190del n.2519del n.2581del c.2203del (p.Gln735ArgfsTer5) c.2071del (p.Gln691ArgfsTer5) c.2188del (p.Gln730ArgfsTer5) c.2035del (p.Gln679ArgfsTer5) c.2161del (p.Gln721ArgfsTer5) c.*2193del (n.*2193del) c.2212del (p.Gln738ArgfsTer5) c.2185del (p.Gln729ArgfsTer5) c.2059del (p.Gln687ArgfsTer5) c.2227del (p.Gln743ArgfsTer5) c.2200del (p.Gln734ArgfsTer5) c.2179del (p.Gln727ArgfsTer5) c.2176del (p.Gln726ArgfsTer5) c.2137del (p.Gln713ArgfsTer5) c.2110del (p.Gln704ArgfsTer5) c.2104del (p.Gln702ArgfsTer5) c.2101del (p.Gln701ArgfsTer5) c.2095del (p.Gln699ArgfsTer5) c.2086del (p.Gln696ArgfsTer5) c.2083del (p.Gln695ArgfsTer5) c.1969del (p.Gln657ArgfsTer5) c.1876del (p.Gln626ArgfsTer5) n.515+2615del n.722+2615del c.2164del (p.Gln722ArgfsTer5) c.1861del (p.Gln621ArgfsTer5) c.2089del (p.Gln697ArgfsTer5) n.4577del n.5233del n.5693del | COSMIC |
7 | g.148807700G>A | CA458345639 | EZH2 | n.4102C>T c.*1264C>T (n.*1264C>T) c.*1098C>T (n.*1098C>T) n.3921C>T n.4189C>T n.2518C>T n.2580C>T c.2202C>T (p.Ser734=) c.2070C>T (p.Ser690=) c.2187C>T (p.Ser729=) c.2034C>T (p.Ser678=) c.2160C>T (p.Ser720=) c.*2192C>T (n.*2192C>T) c.2211C>T (p.Ser737=) c.2184C>T (p.Ser728=) c.2058C>T (p.Ser686=) c.2226C>T (p.Ser742=) c.2199C>T (p.Ser733=) c.2178C>T (p.Ser726=) c.2175C>T (p.Ser725=) c.2136C>T (p.Ser712=) c.2109C>T (p.Ser703=) c.2103C>T (p.Ser701=) c.2100C>T (p.Ser700=) c.2094C>T (p.Ser698=) c.2085C>T (p.Ser695=) c.2082C>T (p.Ser694=) c.1968C>T (p.Ser656=) c.1875C>T (p.Ser625=) n.515+2615G>A n.722+2615G>A c.2163C>T (p.Ser721=) c.1860C>T (p.Ser620=) c.2088C>T (p.Ser696=) n.4576C>T n.5232C>T n.5692C>T | dbSNP gnomAD v4 COSMIC COSMIC |
7 | g.148807700G>C | CA369711849 | EZH2 | n.4102C>G c.*1264C>G (n.*1264C>G) c.*1098C>G (n.*1098C>G) n.3921C>G n.4189C>G n.2518C>G n.2580C>G c.2202C>G (p.Ser734Arg) c.2070C>G (p.Ser690Arg) c.2187C>G (p.Ser729Arg) c.2034C>G (p.Ser678Arg) c.2160C>G (p.Ser720Arg) c.*2192C>G (n.*2192C>G) c.2211C>G (p.Ser737Arg) c.2184C>G (p.Ser728Arg) c.2058C>G (p.Ser686Arg) c.2226C>G (p.Ser742Arg) c.2199C>G (p.Ser733Arg) c.2178C>G (p.Ser726Arg) c.2175C>G (p.Ser725Arg) c.2136C>G (p.Ser712Arg) c.2109C>G (p.Ser703Arg) c.2103C>G (p.Ser701Arg) c.2100C>G (p.Ser700Arg) c.2094C>G (p.Ser698Arg) c.2085C>G (p.Ser695Arg) c.2082C>G (p.Ser694Arg) c.1968C>G (p.Ser656Arg) c.1875C>G (p.Ser625Arg) n.515+2615G>C n.722+2615G>C c.2163C>G (p.Ser721Arg) c.1860C>G (p.Ser620Arg) c.2088C>G (p.Ser696Arg) n.4576C>G n.5232C>G n.5692C>G | |
7 | g.148807700G>T | CA369711850 | EZH2 | n.4102C>A c.*1264C>A (n.*1264C>A) c.*1098C>A (n.*1098C>A) n.3921C>A n.4189C>A n.2518C>A n.2580C>A c.2202C>A (p.Ser734Arg) c.2070C>A (p.Ser690Arg) c.2187C>A (p.Ser729Arg) c.2034C>A (p.Ser678Arg) c.2160C>A (p.Ser720Arg) c.*2192C>A (n.*2192C>A) c.2211C>A (p.Ser737Arg) c.2184C>A (p.Ser728Arg) c.2058C>A (p.Ser686Arg) c.2226C>A (p.Ser742Arg) c.2199C>A (p.Ser733Arg) c.2178C>A (p.Ser726Arg) c.2175C>A (p.Ser725Arg) c.2136C>A (p.Ser712Arg) c.2109C>A (p.Ser703Arg) c.2103C>A (p.Ser701Arg) c.2100C>A (p.Ser700Arg) c.2094C>A (p.Ser698Arg) c.2085C>A (p.Ser695Arg) c.2082C>A (p.Ser694Arg) c.1968C>A (p.Ser656Arg) c.1875C>A (p.Ser625Arg) n.515+2615G>T n.722+2615G>T c.2163C>A (p.Ser721Arg) c.1860C>A (p.Ser620Arg) c.2088C>A (p.Ser696Arg) n.4576C>A n.5232C>A n.5692C>A | gnomAD v4 |