Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.41160618C>A | CA2656909494 | EP300 | c.*1511-24C>A (n.*1511-24C>A) c.3591-24C>A (n.3591-24C>A) c.3513-24C>A (n.3513-24C>A) | gnomAD v4 |
22 | g.41160618C>T | CA2656909495 | EP300 | c.*1511-24C>T (n.*1511-24C>T) c.3591-24C>T (n.3591-24C>T) c.3513-24C>T (n.3513-24C>T) | gnomAD v4 |
22 | g.41160619C>A | CA2571213512 | EP300 | c.*1511-23C>A (n.*1511-23C>A) c.3591-23C>A (n.3591-23C>A) c.3513-23C>A (n.3513-23C>A) | dbSNP |
22 | g.41160619C>G | CA2577729076 | EP300 | c.*1511-23C>G (n.*1511-23C>G) c.3591-23C>G (n.3591-23C>G) c.3513-23C>G (n.3513-23C>G) | dbSNP |
22 | g.41160619C>T | CA2737986482 | EP300 | c.*1511-23C>T (n.*1511-23C>T) c.3591-23C>T (n.3591-23C>T) c.3513-23C>T (n.3513-23C>T) | dbSNP |
22 | g.41160620A>T | CA2737986483 | EP300 | c.*1511-22A>T (n.*1511-22A>T) c.3591-22A>T (n.3591-22A>T) c.3513-22A>T (n.3513-22A>T) | dbSNP |
22 | g.41160621G>A | CA324545432 | EP300 | c.*1511-21G>A (n.*1511-21G>A) c.3591-21G>A (n.3591-21G>A) c.3513-21G>A (n.3513-21G>A) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.41160621G>C | CA2406108604 | EP300 | c.*1511-21G>C (n.*1511-21G>C) c.3591-21G>C (n.3591-21G>C) c.3513-21G>C (n.3513-21G>C) | dbSNP gnomAD v4 |
22 | g.41160621G= | CA2406108603 | EP300 | c.*1511-21G= (n.*1511-21G=) c.3591-21G= (n.3591-21G=) c.3513-21G= (n.3513-21G=) | |
22 | g.41160622T>C | CA2656909497 | EP300 | c.*1511-20T>C (n.*1511-20T>C) c.3591-20T>C (n.3591-20T>C) c.3513-20T>C (n.3513-20T>C) | gnomAD v4 |
22 | g.41160622T>G | CA2656909496 | EP300 | c.*1511-20T>G (n.*1511-20T>G) c.3591-20T>G (n.3591-20T>G) c.3513-20T>G (n.3513-20T>G) | dbSNP gnomAD v4 |
22 | g.41160623A= | CA2406108605 | EP300 | c.*1511-19A= (n.*1511-19A=) c.3591-19A= (n.3591-19A=) c.3513-19A= (n.3513-19A=) | |
22 | g.41160623A>C | CA2737854263 | EP300 | c.*1511-19A>C (n.*1511-19A>C) c.3591-19A>C (n.3591-19A>C) c.3513-19A>C (n.3513-19A>C) | dbSNP |
22 | g.41160623A>G | CA10253163 | EP300 | c.*1511-19A>G (n.*1511-19A>G) c.3591-19A>G (n.3591-19A>G) c.3513-19A>G (n.3513-19A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.41160623A>T | CA2737854262 | EP300 | c.*1511-19A>T (n.*1511-19A>T) c.3591-19A>T (n.3591-19A>T) c.3513-19A>T (n.3513-19A>T) | dbSNP |
22 | g.41160624T>C | CA2406108606 | EP300 | c.*1511-18T>C (n.*1511-18T>C) c.3591-18T>C (n.3591-18T>C) c.3513-18T>C (n.3513-18T>C) | dbSNP |
22 | g.41160624T>G | CA639444248 | EP300 | c.*1511-18T>G (n.*1511-18T>G) c.3591-18T>G (n.3591-18T>G) c.3513-18T>G (n.3513-18T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.41160624T= | CA2406108607 | EP300 | c.*1511-18T= (n.*1511-18T=) c.3591-18T= (n.3591-18T=) c.3513-18T= (n.3513-18T=) | |
22 | g.41160625G>A | CA2737986484 | EP300 | c.*1511-17G>A (n.*1511-17G>A) c.3591-17G>A (n.3591-17G>A) c.3513-17G>A (n.3513-17G>A) | dbSNP |
22 | g.41160625G>C | CA2737986485 | EP300 | c.*1511-17G>C (n.*1511-17G>C) c.3591-17G>C (n.3591-17G>C) c.3513-17G>C (n.3513-17G>C) | dbSNP |
22 | g.41160626G>A | CA2737986486 | EP300 | c.*1511-16G>A (n.*1511-16G>A) c.3591-16G>A (n.3591-16G>A) c.3513-16G>A (n.3513-16G>A) | dbSNP |
22 | g.41160626G>C | CA2737986487 | EP300 | c.*1511-16G>C (n.*1511-16G>C) c.3591-16G>C (n.3591-16G>C) c.3513-16G>C (n.3513-16G>C) | dbSNP |
22 | g.41160626G>T | CA2737986488 | EP300 | c.*1511-16G>T (n.*1511-16G>T) c.3591-16G>T (n.3591-16G>T) c.3513-16G>T (n.3513-16G>T) | dbSNP |
22 | g.41160627C>A | CA2737986493 | EP300 | c.*1511-15C>A (n.*1511-15C>A) c.3591-15C>A (n.3591-15C>A) c.3513-15C>A (n.3513-15C>A) | dbSNP |
22 | g.41160627C>G | CA2737986490 | EP300 | c.*1511-15C>G (n.*1511-15C>G) c.3591-15C>G (n.3591-15C>G) c.3513-15C>G (n.3513-15C>G) | dbSNP |
22 | g.41160627C>T | CA2737986492 | EP300 | c.*1511-15C>T (n.*1511-15C>T) c.3591-15C>T (n.3591-15C>T) c.3513-15C>T (n.3513-15C>T) | dbSNP |
22 | g.41160628C>A | CA2737986495 | EP300 | c.*1511-14C>A (n.*1511-14C>A) c.3591-14C>A (n.3591-14C>A) c.3513-14C>A (n.3513-14C>A) | dbSNP |
22 | g.41160628C>G | CA2737986496 | EP300 | c.*1511-14C>G (n.*1511-14C>G) c.3591-14C>G (n.3591-14C>G) c.3513-14C>G (n.3513-14C>G) | dbSNP |
22 | g.41160628C>T | CA2737986498 | EP300 | c.*1511-14C>T (n.*1511-14C>T) c.3591-14C>T (n.3591-14C>T) c.3513-14C>T (n.3513-14C>T) | dbSNP |
22 | g.41160629T>A | CA2737986499 | EP300 | c.*1511-13T>A (n.*1511-13T>A) c.3591-13T>A (n.3591-13T>A) c.3513-13T>A (n.3513-13T>A) | dbSNP |
22 | g.41160629T>G | CA2577729078 | EP300 | c.*1511-13T>G (n.*1511-13T>G) c.3591-13T>G (n.3591-13T>G) c.3513-13T>G (n.3513-13T>G) | |
22 | g.41160630T>C | CA2577729079 | EP300 | c.*1511-12T>C (n.*1511-12T>C) c.3591-12T>C (n.3591-12T>C) c.3513-12T>C (n.3513-12T>C) | dbSNP |
22 | g.41160631C= | CA2406108608 | EP300 | c.*1511-11C= (n.*1511-11C=) c.3591-11C= (n.3591-11C=) c.3513-11C= (n.3513-11C=) | |
22 | g.41160631C>G | CA753224531 | EP300 | c.*1511-11C>G (n.*1511-11C>G) c.3591-11C>G (n.3591-11C>G) c.3513-11C>G (n.3513-11C>G) | dbSNP |
22 | g.41160631C>T | CA2737877493 | EP300 | c.*1511-11C>T (n.*1511-11C>T) c.3591-11C>T (n.3591-11C>T) c.3513-11C>T (n.3513-11C>T) | dbSNP |
22 | g.41160633T>C | CA1025844753 | EP300 | c.*1511-9T>C (n.*1511-9T>C) c.3591-9T>C (n.3591-9T>C) c.3513-9T>C (n.3513-9T>C) | dbSNP gnomAD v4 |
22 | g.41160633T= | CA2406108609 | EP300 | c.*1511-9T= (n.*1511-9T=) c.3591-9T= (n.3591-9T=) c.3513-9T= (n.3513-9T=) | |
22 | g.41160634G>A | CA2656909498 | EP300 | c.*1511-8G>A (n.*1511-8G>A) c.3591-8G>A (n.3591-8G>A) c.3513-8G>A (n.3513-8G>A) | dbSNP gnomAD v4 |
22 | g.41160634G>C | CA2737986505 | EP300 | c.*1511-8G>C (n.*1511-8G>C) c.3591-8G>C (n.3591-8G>C) c.3513-8G>C (n.3513-8G>C) | dbSNP |
22 | g.41160634G>T | CA2737986506 | EP300 | c.*1511-8G>T (n.*1511-8G>T) c.3591-8G>T (n.3591-8G>T) c.3513-8G>T (n.3513-8G>T) | dbSNP |
22 | g.41160635C>G | CA2737986507 | EP300 | c.*1511-7C>G (n.*1511-7C>G) c.3591-7C>G (n.3591-7C>G) c.3513-7C>G (n.3513-7C>G) | dbSNP |
22 | g.41160635C>T | CA645616450 | EP300 | c.*1511-7C>T (n.*1511-7C>T) c.3591-7C>T (n.3591-7C>T) c.3513-7C>T (n.3513-7C>T) | dbSNP gnomAD v4 COSMIC |
22 | g.41160636C>A | CA2737853563 | EP300 | c.*1511-6C>A (n.*1511-6C>A) c.3591-6C>A (n.3591-6C>A) c.3513-6C>A (n.3513-6C>A) | dbSNP |
22 | g.41160636C= | CA2406108610 | EP300 | c.*1511-6C= (n.*1511-6C=) c.3591-6C= (n.3591-6C=) c.3513-6C= (n.3513-6C=) | |
22 | g.41160636C>G | CA2737853565 | EP300 | c.*1511-6C>G (n.*1511-6C>G) c.3591-6C>G (n.3591-6C>G) c.3513-6C>G (n.3513-6C>G) | dbSNP |
22 | g.41160636C>T | CA241917 | EP300 | c.*1511-6C>T (n.*1511-6C>T) c.3591-6C>T (n.3591-6C>T) c.3513-6C>T (n.3513-6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.41160637G>A | CA10253164 | EP300 | c.*1511-5G>A (n.*1511-5G>A) c.3591-5G>A (n.3591-5G>A) c.3513-5G>A (n.3513-5G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.41160637G>C | CA2656909499 | EP300 | c.*1511-5G>C (n.*1511-5G>C) c.3591-5G>C (n.3591-5G>C) c.3513-5G>C (n.3513-5G>C) | dbSNP gnomAD v4 |
22 | g.41160637G= | CA2406108611 | EP300 | c.*1511-5G= (n.*1511-5G=) c.3591-5G= (n.3591-5G=) c.3513-5G= (n.3513-5G=) | |
22 | g.41160637G>T | CA2406108612 | EP300 | c.*1511-5G>T (n.*1511-5G>T) c.3591-5G>T (n.3591-5G>T) c.3513-5G>T (n.3513-5G>T) | dbSNP gnomAD v4 |
22 | g.41160638A>C | CA2737986510 | EP300 | c.*1511-4A>C (n.*1511-4A>C) c.3591-4A>C (n.3591-4A>C) c.3513-4A>C (n.3513-4A>C) | dbSNP |
22 | g.41160638A>G | CA2656909500 | EP300 | c.*1511-4A>G (n.*1511-4A>G) c.3591-4A>G (n.3591-4A>G) c.3513-4A>G (n.3513-4A>G) | gnomAD v4 |
22 | g.41160638A>T | CA2737986511 | EP300 | c.*1511-4A>T (n.*1511-4A>T) c.3591-4A>T (n.3591-4A>T) c.3513-4A>T (n.3513-4A>T) | dbSNP |
22 | g.41160639C= | CA2406108613 | EP300 | c.*1511-3C= (n.*1511-3C=) c.3591-3C= (n.3591-3C=) c.3513-3C= (n.3513-3C=) | |
22 | g.41160639C>G | CA2737882740 | EP300 | c.*1511-3C>G (n.*1511-3C>G) c.3591-3C>G (n.3591-3C>G) c.3513-3C>G (n.3513-3C>G) | dbSNP |
22 | g.41160639C>T | CA639444252 | EP300 | c.*1511-3C>T (n.*1511-3C>T) c.3591-3C>T (n.3591-3C>T) c.3513-3C>T (n.3513-3C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.41160640A>C | CA411696157 | EP300 | c.*1511-2A>C (n.*1511-2A>C) c.3591-2A>C (n.3591-2A>C) c.3513-2A>C (n.3513-2A>C) | |
22 | g.41160640A>G | CA411696159 | EP300 | c.*1511-2A>G (n.*1511-2A>G) c.3591-2A>G (n.3591-2A>G) c.3513-2A>G (n.3513-2A>G) | |
22 | g.41160640A>T | CA411696162 | EP300 | c.*1511-2A>T (n.*1511-2A>T) c.3591-2A>T (n.3591-2A>T) c.3513-2A>T (n.3513-2A>T) | |
22 | g.41160641G>A | CA411696164 | EP300 | c.*1511-1G>A (n.*1511-1G>A) c.3591-1G>A (n.3591-1G>A) c.3513-1G>A (n.3513-1G>A) | dbSNP |
22 | g.41160641G>C | CA411696166 | EP300 | c.*1511-1G>C (n.*1511-1G>C) c.3591-1G>C (n.3591-1G>C) c.3513-1G>C (n.3513-1G>C) | dbSNP |
22 | g.41160641G>T | CA411696167 | EP300 | c.*1511-1G>T (n.*1511-1G>T) c.3591-1G>T (n.3591-1G>T) c.3513-1G>T (n.3513-1G>T) | dbSNP COSMIC |
22 | g.41160642G>A | CA514646339 | EP300 | c.*1511G>A (n.*1511G>A) c.3591G>A (p.Arg1197=) c.3513G>A (p.Arg1171=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.41160642G>C | CA411696170 | EP300 | c.*1511G>C (n.*1511G>C) c.3591G>C (p.Arg1197Ser) c.3513G>C (p.Arg1171Ser) | dbSNP |
22 | g.41160642G= | CA2406108614 | EP300 | c.*1511G= (n.*1511G=) c.3591G= (p.Arg1197=) c.3513G= (p.Arg1171=) | |
22 | g.41160642G>T | CA411696172 | EP300 | c.*1511G>T (n.*1511G>T) c.3591G>T (p.Arg1197Ser) c.3513G>T (p.Arg1171Ser) | dbSNP |
22 | g.41160645_41162782del | CA645616451 | EP300 | c.*1514_*1648+3del c.3594_3728+3del c.3516_3650+3del | COSMIC |
22 | g.41160643T>A | CA411696174 | EP300 | c.*1512T>A (n.*1512T>A) c.3592T>A (p.Tyr1198Asn) c.3514T>A (p.Tyr1172Asn) | dbSNP |
22 | g.41160643T>C | CA411696176 | EP300 | c.*1512T>C (n.*1512T>C) c.3592T>C (p.Tyr1198His) c.3514T>C (p.Tyr1172His) | ClinVar dbSNP gnomAD v4 |
22 | g.41160643T>G | CA411696179 | EP300 | c.*1512T>G (n.*1512T>G) c.3592T>G (p.Tyr1198Asp) c.3514T>G (p.Tyr1172Asp) | dbSNP |
22 | g.41160643T= | CA2406108615 | EP300 | c.*1512T= (n.*1512T=) c.3592T= (p.Tyr1198=) c.3514T= (p.Tyr1172=) | |
22 | g.41160644A>C | CA411696183 | EP300 | c.*1513A>C (n.*1513A>C) c.3593A>C (p.Tyr1198Ser) c.3515A>C (p.Tyr1172Ser) | |
22 | g.41160644A>G | CA411696186 | EP300 | c.*1513A>G (n.*1513A>G) c.3593A>G (p.Tyr1198Cys) c.3515A>G (p.Tyr1172Cys) | dbSNP gnomAD v4 |
22 | g.41160644A>T | CA411696182 | EP300 | c.*1513A>T (n.*1513A>T) c.3593A>T (p.Tyr1198Phe) c.3515A>T (p.Tyr1172Phe) | dbSNP |
22 | g.41160645T>A | CA411696188 | EP300 | c.*1514T>A (n.*1514T>A) c.3594T>A (p.Tyr1198Ter) c.3516T>A (p.Tyr1172Ter) | |
22 | g.41160645T>C | CA514646343 | EP300 | c.*1514T>C (n.*1514T>C) c.3594T>C (p.Tyr1198=) c.3516T>C (p.Tyr1172=) | gnomAD v4 |
22 | g.41160645T>G | CA411696191 | EP300 | c.*1514T>G (n.*1514T>G) c.3594T>G (p.Tyr1198Ter) c.3516T>G (p.Tyr1172Ter) | |
22 | g.41160645_41160655del | CA2843744602 | EP300 | c.*1514_*1524del (n.*1514_*1524del) c.3594_3604del (p.Tyr1198Ter) c.3516_3526del (p.Tyr1172Ter) | |
22 | g.41160646C>A | CA411696193 | EP300 | c.*1515C>A (n.*1515C>A) c.3595C>A (p.His1199Asn) c.3517C>A (p.His1173Asn) | dbSNP |
22 | g.41160646C>G | CA411696196 | EP300 | c.*1515C>G (n.*1515C>G) c.3595C>G (p.His1199Asp) c.3517C>G (p.His1173Asp) | dbSNP |
22 | g.41160646C>T | CA411696198 | EP300 | c.*1515C>T (n.*1515C>T) c.3595C>T (p.His1199Tyr) c.3517C>T (p.His1173Tyr) | dbSNP COSMIC |
22 | g.41160647A>C | CA411696208 | EP300 | c.*1516A>C (n.*1516A>C) c.3596A>C (p.His1199Pro) c.3518A>C (p.His1173Pro) | |
22 | g.41160647A>G | CA411696204 | EP300 | c.*1516A>G (n.*1516A>G) c.3596A>G (p.His1199Arg) c.3518A>G (p.His1173Arg) | gnomAD v4 |
22 | g.41160647A>T | CA411696206 | EP300 | c.*1516A>T (n.*1516A>T) c.3596A>T (p.His1199Leu) c.3518A>T (p.His1173Leu) | dbSNP |
22 | g.41160648T>A | CA411696210 | EP300 | c.*1517T>A (n.*1517T>A) c.3597T>A (p.His1199Gln) c.3519T>A (p.His1173Gln) | dbSNP |
22 | g.41160648T>C | CA514646347 | EP300 | c.*1517T>C (n.*1517T>C) c.3597T>C (p.His1199=) c.3519T>C (p.His1173=) | |
22 | g.41160648T>G | CA411696212 | EP300 | c.*1517T>G (n.*1517T>G) c.3597T>G (p.His1199Gln) c.3519T>G (p.His1173Gln) | |
22 | g.41160649T>A | CA411696215 | EP300 | c.*1518T>A (n.*1518T>A) c.3598T>A (p.Phe1200Ile) c.3520T>A (p.Phe1174Ile) | |
22 | g.41160649T>C | CA411696218 | EP300 | c.*1518T>C (n.*1518T>C) c.3598T>C (p.Phe1200Leu) c.3520T>C (p.Phe1174Leu) | |
22 | g.41160649T>G | CA411696219 | EP300 | c.*1518T>G (n.*1518T>G) c.3598T>G (p.Phe1200Val) c.3520T>G (p.Phe1174Val) | dbSNP |
22 | g.41160649T= | CA2406108616 | EP300 | c.*1518T= (n.*1518T=) c.3598T= (p.Phe1200=) c.3520T= (p.Phe1174=) | |
22 | g.41160650T>A | CA411696227 | EP300 | c.*1519T>A (n.*1519T>A) c.3599T>A (p.Phe1200Tyr) c.3521T>A (p.Phe1174Tyr) | |
22 | g.41160650T>C | CA411696222 | EP300 | c.*1519T>C (n.*1519T>C) c.3599T>C (p.Phe1200Ser) c.3521T>C (p.Phe1174Ser) | |
22 | g.41160650T>G | CA411696224 | EP300 | c.*1519T>G (n.*1519T>G) c.3599T>G (p.Phe1200Cys) c.3521T>G (p.Phe1174Cys) | |
22 | g.41160651C>A | CA411696228 | EP300 | c.*1520C>A (n.*1520C>A) c.3600C>A (p.Phe1200Leu) c.3522C>A (p.Phe1174Leu) | COSMIC |
22 | g.41160651C>G | CA411696230 | EP300 | c.*1520C>G (n.*1520C>G) c.3600C>G (p.Phe1200Leu) c.3522C>G (p.Phe1174Leu) | dbSNP |
22 | g.41160651C>T | CA514646349 | EP300 | c.*1520C>T (n.*1520C>T) c.3600C>T (p.Phe1200=) c.3522C>T (p.Phe1174=) | dbSNP |
22 | g.41160652T>A | CA411696232 | EP300 | c.*1521T>A (n.*1521T>A) c.3601T>A (p.Cys1201Ser) c.3523T>A (p.Cys1175Ser) | |
22 | g.41160652T>C | CA411696233 | EP300 | c.*1521T>C (n.*1521T>C) c.3601T>C (p.Cys1201Arg) c.3523T>C (p.Cys1175Arg) | dbSNP COSMIC |
22 | g.41160652T>G | CA411696236 | EP300 | c.*1521T>G (n.*1521T>G) c.3601T>G (p.Cys1201Gly) c.3523T>G (p.Cys1175Gly) | |
22 | g.41160653G>A | CA411696238 | EP300 | c.*1522G>A (n.*1522G>A) c.3602G>A (p.Cys1201Tyr) c.3524G>A (p.Cys1175Tyr) | dbSNP gnomAD v4 COSMIC |
22 | g.41160653G>C | CA411696240 | EP300 | c.*1522G>C (n.*1522G>C) c.3602G>C (p.Cys1201Ser) c.3524G>C (p.Cys1175Ser) | dbSNP |
22 | g.41160653G>T | CA411696243 | EP300 | c.*1522G>T (n.*1522G>T) c.3602G>T (p.Cys1201Phe) c.3524G>T (p.Cys1175Phe) | dbSNP |
22 | g.41160654T>A | CA411696245 | EP300 | c.*1523T>A (n.*1523T>A) c.3603T>A (p.Cys1201Ter) c.3525T>A (p.Cys1175Ter) | dbSNP |
22 | g.41160654T>C | CA514646350 | EP300 | c.*1523T>C (n.*1523T>C) c.3603T>C (p.Cys1201=) c.3525T>C (p.Cys1175=) | COSMIC |
22 | g.41160654T>G | CA411696246 | EP300 | c.*1523T>G (n.*1523T>G) c.3603T>G (p.Cys1201Trp) c.3525T>G (p.Cys1175Trp) | |
22 | g.41160655G>A | CA411696250 | EP300 | c.*1524G>A (n.*1524G>A) c.3604G>A (p.Glu1202Lys) c.3526G>A (p.Glu1176Lys) | |
22 | g.41160655G>C | CA411696252 | EP300 | c.*1524G>C (n.*1524G>C) c.3604G>C (p.Glu1202Gln) c.3526G>C (p.Glu1176Gln) | dbSNP COSMIC |
22 | g.41160655G>T | CA411696255 | EP300 | c.*1524G>T (n.*1524G>T) c.3604G>T (p.Glu1202Ter) c.3526G>T (p.Glu1176Ter) | |
22 | g.41160656A>C | CA411696259 | EP300 | c.*1525A>C (n.*1525A>C) c.3605A>C (p.Glu1202Ala) c.3527A>C (p.Glu1176Ala) | |
22 | g.41160656A>G | CA411696264 | EP300 | c.*1525A>G (n.*1525A>G) c.3605A>G (p.Glu1202Gly) c.3527A>G (p.Glu1176Gly) | dbSNP |
22 | g.41160656A>T | CA411696262 | EP300 | c.*1525A>T (n.*1525A>T) c.3605A>T (p.Glu1202Val) c.3527A>T (p.Glu1176Val) | dbSNP |
22 | g.41160657G>A | CA514646351 | EP300 | c.*1526G>A (n.*1526G>A) c.3606G>A (p.Glu1202=) c.3528G>A (p.Glu1176=) | dbSNP |
22 | g.41160657G>C | CA411696267 | EP300 | c.*1526G>C (n.*1526G>C) c.3606G>C (p.Glu1202Asp) c.3528G>C (p.Glu1176Asp) | dbSNP |
22 | g.41160657G>T | CA411696269 | EP300 | c.*1526G>T (n.*1526G>T) c.3606G>T (p.Glu1202Asp) c.3528G>T (p.Glu1176Asp) | |
22 | g.41160658A>C | CA411696273 | EP300 | c.*1527A>C (n.*1527A>C) c.3607A>C (p.Lys1203Gln) c.3529A>C (p.Lys1177Gln) | |
22 | g.41160658A>G | CA411696274 | EP300 | c.*1527A>G (n.*1527A>G) c.3607A>G (p.Lys1203Glu) c.3529A>G (p.Lys1177Glu) | dbSNP |
22 | g.41160658A>T | CA411696277 | EP300 | c.*1527A>T (n.*1527A>T) c.3607A>T (p.Lys1203Ter) c.3529A>T (p.Lys1177Ter) | dbSNP |
22 | g.41160659A>C | CA411696285 | EP300 | c.*1528A>C (n.*1528A>C) c.3608A>C (p.Lys1203Thr) c.3530A>C (p.Lys1177Thr) | |
22 | g.41160659A>G | CA411696283 | EP300 | c.*1528A>G (n.*1528A>G) c.3608A>G (p.Lys1203Arg) c.3530A>G (p.Lys1177Arg) | |
22 | g.41160659A>T | CA411696280 | EP300 | c.*1528A>T (n.*1528A>T) c.3608A>T (p.Lys1203Met) c.3530A>T (p.Lys1177Met) | dbSNP |
22 | g.41160660G>A | CA10253165 | EP300 | c.*1529G>A (n.*1529G>A) c.3609G>A (p.Lys1203=) c.3531G>A (p.Lys1177=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.41160660G>C | CA411696289 | EP300 | c.*1529G>C (n.*1529G>C) c.3609G>C (p.Lys1203Asn) c.3531G>C (p.Lys1177Asn) | dbSNP gnomAD v4 |
22 | g.41160660G= | CA2406108617 | EP300 | c.*1529G= (n.*1529G=) c.3609G= (p.Lys1203=) c.3531G= (p.Lys1177=) | |
22 | g.41160660G>T | CA411696292 | EP300 | c.*1529G>T (n.*1529G>T) c.3609G>T (p.Lys1203Asn) c.3531G>T (p.Lys1177Asn) | gnomAD v4 |
22 | g.41160661T>A | CA411696295 | EP300 | c.*1530T>A (n.*1530T>A) c.3610T>A (p.Cys1204Ser) c.3532T>A (p.Cys1178Ser) | dbSNP |
22 | g.41160661T>C | CA411696298 | EP300 | c.*1530T>C (n.*1530T>C) c.3610T>C (p.Cys1204Arg) c.3532T>C (p.Cys1178Arg) | |
22 | g.41160661T>G | CA411696300 | EP300 | c.*1530T>G (n.*1530T>G) c.3610T>G (p.Cys1204Gly) c.3532T>G (p.Cys1178Gly) | dbSNP |
22 | g.41160662G>A | CA411696303 | EP300 | c.*1531G>A (n.*1531G>A) c.3611G>A (p.Cys1204Tyr) c.3533G>A (p.Cys1178Tyr) | |
22 | g.41160662G>C | CA411696307 | EP300 | c.*1531G>C (n.*1531G>C) c.3611G>C (p.Cys1204Ser) c.3533G>C (p.Cys1178Ser) | |
22 | g.41160662G>T | CA411696306 | EP300 | c.*1531G>T (n.*1531G>T) c.3611G>T (p.Cys1204Phe) c.3533G>T (p.Cys1178Phe) | COSMIC |
22 | g.41160663T>A | CA411696310 | EP300 | c.*1532T>A (n.*1532T>A) c.3612T>A (p.Cys1204Ter) c.3534T>A (p.Cys1178Ter) | dbSNP |
22 | g.41160663T>C | CA10253166 | EP300 | c.*1532T>C (n.*1532T>C) c.3612T>C (p.Cys1204=) c.3534T>C (p.Cys1178=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.41160663T>G | CA411696313 | EP300 | c.*1532T>G (n.*1532T>G) c.3612T>G (p.Cys1204Trp) c.3534T>G (p.Cys1178Trp) | |
22 | g.41160663T= | CA2406108618 | EP300 | c.*1532T= (n.*1532T=) c.3612T= (p.Cys1204=) c.3534T= (p.Cys1178=) | |
22 | g.41160664T>A | CA411696316 | EP300 | c.*1533T>A (n.*1533T>A) c.3613T>A (p.Phe1205Ile) c.3535T>A (p.Phe1179Ile) | dbSNP |
22 | g.41160664T>C | CA411696319 | EP300 | c.*1533T>C (n.*1533T>C) c.3613T>C (p.Phe1205Leu) c.3535T>C (p.Phe1179Leu) | dbSNP |
22 | g.41160664T>G | CA411696321 | EP300 | c.*1533T>G (n.*1533T>G) c.3613T>G (p.Phe1205Val) c.3535T>G (p.Phe1179Val) | |
22 | g.41160665T>A | CA411696324 | EP300 | c.*1534T>A (n.*1534T>A) c.3614T>A (p.Phe1205Tyr) c.3536T>A (p.Phe1179Tyr) | dbSNP |
22 | g.41160665T>C | CA411696327 | EP300 | c.*1534T>C (n.*1534T>C) c.3614T>C (p.Phe1205Ser) c.3536T>C (p.Phe1179Ser) | |
22 | g.41160665T>G | CA411696329 | EP300 | c.*1534T>G (n.*1534T>G) c.3614T>G (p.Phe1205Cys) c.3536T>G (p.Phe1179Cys) | |
22 | g.41160666C>A | CA411696332 | EP300 | c.*1535C>A (n.*1535C>A) c.3615C>A (p.Phe1205Leu) c.3537C>A (p.Phe1179Leu) | dbSNP |
22 | g.41160666C= | CA2406108619 | EP300 | c.*1535C= (n.*1535C=) c.3615C= (p.Phe1205=) c.3537C= (p.Phe1179=) | |
22 | g.41160666C>G | CA158498 | EP300 | c.*1535C>G (n.*1535C>G) c.3615C>G (p.Phe1205Leu) c.3537C>G (p.Phe1179Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.41160666C>T | CA514646364 | EP300 | c.*1535C>T (n.*1535C>T) c.3615C>T (p.Phe1205=) c.3537C>T (p.Phe1179=) | dbSNP |
22 | g.41160667A>C | CA411696339 | EP300 | c.*1536A>C (n.*1536A>C) c.3616A>C (p.Asn1206His) c.3538A>C (p.Asn1180His) | |
22 | g.41160667A>G | CA411696341 | EP300 | c.*1536A>G (n.*1536A>G) c.3616A>G (p.Asn1206Asp) c.3538A>G (p.Asn1180Asp) | dbSNP |
22 | g.41160667A>T | CA411696336 | EP300 | c.*1536A>T (n.*1536A>T) c.3616A>T (p.Asn1206Tyr) c.3538A>T (p.Asn1180Tyr) | dbSNP gnomAD v4 |
22 | g.41160668A= | CA2406108620 | EP300 | c.*1537A= (n.*1537A=) c.3617A= (p.Asn1206=) c.3539A= (p.Asn1180=) | |
22 | g.41160668A>C | CA411696349 | EP300 | c.*1537A>C (n.*1537A>C) c.3617A>C (p.Asn1206Thr) c.3539A>C (p.Asn1180Thr) | |
22 | g.41160668A>G | CA10253167 | EP300 | c.*1537A>G (n.*1537A>G) c.3617A>G (p.Asn1206Ser) c.3539A>G (p.Asn1180Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.41160668A>T | CA411696346 | EP300 | c.*1537A>T (n.*1537A>T) c.3617A>T (p.Asn1206Ile) c.3539A>T (p.Asn1180Ile) | dbSNP |
22 | g.41160669T>A | CA411696353 | EP300 | c.*1538T>A (n.*1538T>A) c.3618T>A (p.Asn1206Lys) c.3540T>A (p.Asn1180Lys) | dbSNP |
22 | g.41160669T>C | CA514646368 | EP300 | c.*1538T>C (n.*1538T>C) c.3618T>C (p.Asn1206=) c.3540T>C (p.Asn1180=) | |
22 | g.41160669T>G | CA411696354 | EP300 | c.*1538T>G (n.*1538T>G) c.3618T>G (p.Asn1206Lys) c.3540T>G (p.Asn1180Lys) | gnomAD v3 gnomAD v4 |
22 | g.41160670G>A | CA411696357 | EP300 | c.*1539G>A (n.*1539G>A) c.3619G>A (p.Glu1207Lys) c.3541G>A (p.Glu1181Lys) | |
22 | g.41160670G>C | CA411696360 | EP300 | c.*1539G>C (n.*1539G>C) c.3619G>C (p.Glu1207Gln) c.3541G>C (p.Glu1181Gln) | |
22 | g.41160670G>T | CA411696362 | EP300 | c.*1539G>T (n.*1539G>T) c.3619G>T (p.Glu1207Ter) c.3541G>T (p.Glu1181Ter) | dbSNP COSMIC |
22 | g.41160671A>C | CA411696371 | EP300 | c.*1540A>C (n.*1540A>C) c.3620A>C (p.Glu1207Ala) c.3542A>C (p.Glu1181Ala) | |
22 | g.41160671A>G | CA411696366 | EP300 | c.*1540A>G (n.*1540A>G) c.3620A>G (p.Glu1207Gly) c.3542A>G (p.Glu1181Gly) | |
22 | g.41160671A>T | CA411696369 | EP300 | c.*1540A>T (n.*1540A>T) c.3620A>T (p.Glu1207Val) c.3542A>T (p.Glu1181Val) | |
22 | g.41160672G>A | CA514646371 | EP300 | c.*1541G>A (n.*1541G>A) c.3621G>A (p.Glu1207=) c.3543G>A (p.Glu1181=) | dbSNP COSMIC |
22 | g.41160672G>C | CA411696373 | EP300 | c.*1541G>C (n.*1541G>C) c.3621G>C (p.Glu1207Asp) c.3543G>C (p.Glu1181Asp) | dbSNP |
22 | g.41160672G>T | CA411696375 | EP300 | c.*1541G>T (n.*1541G>T) c.3621G>T (p.Glu1207Asp) c.3543G>T (p.Glu1181Asp) | dbSNP gnomAD v4 |
22 | g.41160673A>C | CA411696378 | EP300 | c.*1542A>C (n.*1542A>C) c.3622A>C (p.Ile1208Leu) c.3544A>C (p.Ile1182Leu) | |
22 | g.41160673A>G | CA411696381 | EP300 | c.*1542A>G (n.*1542A>G) c.3622A>G (p.Ile1208Val) c.3544A>G (p.Ile1182Val) | |
22 | g.41160673A>T | CA411696383 | EP300 | c.*1542A>T (n.*1542A>T) c.3622A>T (p.Ile1208Phe) c.3544A>T (p.Ile1182Phe) | |
22 | g.41160674T>A | CA411696386 | EP300 | c.*1543T>A (n.*1543T>A) c.3623T>A (p.Ile1208Asn) c.3545T>A (p.Ile1182Asn) | dbSNP |
22 | g.41160674T>C | CA411696391 | EP300 | c.*1543T>C (n.*1543T>C) c.3623T>C (p.Ile1208Thr) c.3545T>C (p.Ile1182Thr) | |
22 | g.41160674T>G | CA411696389 | EP300 | c.*1543T>G (n.*1543T>G) c.3623T>G (p.Ile1208Ser) c.3545T>G (p.Ile1182Ser) | dbSNP |
22 | g.41160675C>A | CA10253168 | EP300 | c.*1544C>A (n.*1544C>A) c.3624C>A (p.Ile1208=) c.3546C>A (p.Ile1182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.41160675C= | CA2406108621 | EP300 | c.*1544C= (n.*1544C=) c.3624C= (p.Ile1208=) c.3546C= (p.Ile1182=) | |
22 | g.41160675C>G | CA411696396 | EP300 | c.*1544C>G (n.*1544C>G) c.3624C>G (p.Ile1208Met) c.3546C>G (p.Ile1182Met) | ClinVar dbSNP |
22 | g.41160675C>T | CA10253169 | EP300 | c.*1544C>T (n.*1544C>T) c.3624C>T (p.Ile1208=) c.3546C>T (p.Ile1182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.41160676del | CA2695230900 | EP300 | c.*1545del (n.*1545del) c.3625del (p.Gln1209LysfsTer18) c.3547del (p.Gln1183LysfsTer18) | |
22 | g.41160676C>A | CA411696400 | EP300 | c.*1545C>A (n.*1545C>A) c.3625C>A (p.Gln1209Lys) c.3547C>A (p.Gln1183Lys) | |
22 | g.41160676C>G | CA411696403 | EP300 | c.*1545C>G (n.*1545C>G) c.3625C>G (p.Gln1209Glu) c.3547C>G (p.Gln1183Glu) | ClinVar gnomAD v4 |
22 | g.41160676C>T | CA411696406 | EP300 | c.*1545C>T (n.*1545C>T) c.3625C>T (p.Gln1209Ter) c.3547C>T (p.Gln1183Ter) | |
22 | g.41160677A>C | CA411696409 | EP300 | c.*1546A>C (n.*1546A>C) c.3626A>C (p.Gln1209Pro) c.3548A>C (p.Gln1183Pro) | |
22 | g.41160677A>G | CA411696411 | EP300 | c.*1546A>G (n.*1546A>G) c.3626A>G (p.Gln1209Arg) c.3548A>G (p.Gln1183Arg) | gnomAD v4 |
22 | g.41160677A>T | CA411696413 | EP300 | c.*1546A>T (n.*1546A>T) c.3626A>T (p.Gln1209Leu) c.3548A>T (p.Gln1183Leu) | |
22 | g.41160678A= | CA2406108622 | EP300 | c.*1547A= (n.*1547A=) c.3627A= (p.Gln1209=) c.3549A= (p.Gln1183=) | |
22 | g.41160678A>C | CA411696416 | EP300 | c.*1547A>C (n.*1547A>C) c.3627A>C (p.Gln1209His) c.3549A>C (p.Gln1183His) | |
22 | g.41160678A>G | CA514646378 | EP300 | c.*1547A>G (n.*1547A>G) c.3627A>G (p.Gln1209=) c.3549A>G (p.Gln1183=) | dbSNP |
22 | g.41160678A>T | CA411696418 | EP300 | c.*1547A>T (n.*1547A>T) c.3627A>T (p.Gln1209His) c.3549A>T (p.Gln1183His) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.41160680_41160684del | CA2737986557 | EP300 | c.*1549_*1553del (n.*1549_*1553del) c.3629_3633del (p.Gly1210GlufsTer7) c.3551_3555del (p.Gly1184GlufsTer7) | dbSNP |
22 | g.41160679G>A | CA411696422 | EP300 | c.*1548G>A (n.*1548G>A) c.3628G>A (p.Gly1210Arg) c.3550G>A (p.Gly1184Arg) | dbSNP |
22 | g.41160679G>C | CA411696427 | EP300 | c.*1548G>C (n.*1548G>C) c.3628G>C (p.Gly1210Arg) c.3550G>C (p.Gly1184Arg) | dbSNP |
22 | g.41160679G>T | CA411696425 | EP300 | c.*1548G>T (n.*1548G>T) c.3628G>T (p.Gly1210Trp) c.3550G>T (p.Gly1184Trp) | dbSNP |
22 | g.41160680G>A | CA411696430 | EP300 | c.*1549G>A (n.*1549G>A) c.3629G>A (p.Gly1210Glu) c.3551G>A (p.Gly1184Glu) | dbSNP |
22 | g.41160680G>C | CA411696432 | EP300 | c.*1549G>C (n.*1549G>C) c.3629G>C (p.Gly1210Ala) c.3551G>C (p.Gly1184Ala) | dbSNP |
22 | g.41160680G>T | CA411696435 | EP300 | c.*1549G>T (n.*1549G>T) c.3629G>T (p.Gly1210Val) c.3551G>T (p.Gly1184Val) | dbSNP |
22 | g.41160681G>A | CA10253170 | EP300 | c.*1550G>A (n.*1550G>A) c.3630G>A (p.Gly1210=) c.3552G>A (p.Gly1184=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.41160681G>C | CA514646382 | EP300 | c.*1550G>C (n.*1550G>C) c.3630G>C (p.Gly1210=) c.3552G>C (p.Gly1184=) | |
22 | g.41160681G= | CA2406108623 | EP300 | c.*1550G= (n.*1550G=) c.3630G= (p.Gly1210=) c.3552G= (p.Gly1184=) | |
22 | g.41160681G>T | CA514646381 | EP300 | c.*1550G>T (n.*1550G>T) c.3630G>T (p.Gly1210=) c.3552G>T (p.Gly1184=) | |
22 | g.41160682G>A | CA411696440 | EP300 | c.*1551G>A (n.*1551G>A) c.3631G>A (p.Glu1211Lys) c.3553G>A (p.Glu1185Lys) | dbSNP gnomAD v4 |
22 | g.41160682G>C | CA411696441 | EP300 | c.*1551G>C (n.*1551G>C) c.3631G>C (p.Glu1211Gln) c.3553G>C (p.Glu1185Gln) | dbSNP |
22 | g.41160682G>T | CA411696444 | EP300 | c.*1551G>T (n.*1551G>T) c.3631G>T (p.Glu1211Ter) c.3553G>T (p.Glu1185Ter) | dbSNP |
22 | g.41160683A= | CA2406108624 | EP300 | c.*1552A= (n.*1552A=) c.3632A= (p.Glu1211=) c.3554A= (p.Glu1185=) | |
22 | g.41160683A>C | CA411696448 | EP300 | c.*1552A>C (n.*1552A>C) c.3632A>C (p.Glu1211Ala) c.3554A>C (p.Glu1185Ala) | |
22 | g.41160683A>G | CA411696450 | EP300 | c.*1552A>G (n.*1552A>G) c.3632A>G (p.Glu1211Gly) c.3554A>G (p.Glu1185Gly) | dbSNP gnomAD v2 |
22 | g.41160683A>T | CA411696452 | EP300 | c.*1552A>T (n.*1552A>T) c.3632A>T (p.Glu1211Val) c.3554A>T (p.Glu1185Val) | dbSNP |
22 | g.41160684G>A | CA514646383 | EP300 | c.*1553G>A (n.*1553G>A) c.3633G>A (p.Glu1211=) c.3555G>A (p.Glu1185=) | dbSNP |
22 | g.41160684G>C | CA411696455 | EP300 | c.*1553G>C (n.*1553G>C) c.3633G>C (p.Glu1211Asp) c.3555G>C (p.Glu1185Asp) | dbSNP gnomAD v4 |
22 | g.41160684G= | CA2406108625 | EP300 | c.*1553G= (n.*1553G=) c.3633G= (p.Glu1211=) c.3555G= (p.Glu1185=) | |
22 | g.41160684G>T | CA10253171 | EP300 | c.*1553G>T (n.*1553G>T) c.3633G>T (p.Glu1211Asp) c.3555G>T (p.Glu1185Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.41160685A= | CA2406108626 | EP300 | c.*1554A= (n.*1554A=) c.3634A= (p.Ser1212=) c.3556A= (p.Ser1186=) | |
22 | g.41160685A>C | CA411696463 | EP300 | c.*1554A>C (n.*1554A>C) c.3634A>C (p.Ser1212Arg) c.3556A>C (p.Ser1186Arg) | |
22 | g.41160685A>G | CA10253172 | EP300 | c.*1554A>G (n.*1554A>G) c.3634A>G (p.Ser1212Gly) c.3556A>G (p.Ser1186Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.41160685A>T | CA411696461 | EP300 | c.*1554A>T (n.*1554A>T) c.3634A>T (p.Ser1212Cys) c.3556A>T (p.Ser1186Cys) | dbSNP |
22 | g.41160686G>A | CA411696466 | EP300 | c.*1555G>A (n.*1555G>A) c.3635G>A (p.Ser1212Asn) c.3557G>A (p.Ser1186Asn) | COSMIC |
22 | g.41160686G>C | CA411696469 | EP300 | c.*1555G>C (n.*1555G>C) c.3635G>C (p.Ser1212Thr) c.3557G>C (p.Ser1186Thr) | dbSNP gnomAD v4 |
22 | g.41160686G>T | CA411696471 | EP300 | c.*1555G>T (n.*1555G>T) c.3635G>T (p.Ser1212Ile) c.3557G>T (p.Ser1186Ile) | |
22 | g.41160687C>A | CA411696473 | EP300 | c.*1556C>A (n.*1556C>A) c.3636C>A (p.Ser1212Arg) c.3558C>A (p.Ser1186Arg) | dbSNP |
22 | g.41160687C= | CA2406108627 | EP300 | c.*1556C= (n.*1556C=) c.3636C= (p.Ser1212=) c.3558C= (p.Ser1186=) | |
22 | g.41160687C>G | CA411696475 | EP300 | c.*1556C>G (n.*1556C>G) c.3636C>G (p.Ser1212Arg) c.3558C>G (p.Ser1186Arg) | dbSNP |
22 | g.41160687C>T | CA324545450 | EP300 | c.*1556C>T (n.*1556C>T) c.3636C>T (p.Ser1212=) c.3558C>T (p.Ser1186=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.41160688G>A | CA10253173 | EP300 | c.*1557G>A (n.*1557G>A) c.3637G>A (p.Val1213Ile) c.3559G>A (p.Val1187Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.41160688G>C | CA411696480 | EP300 | c.*1557G>C (n.*1557G>C) c.3637G>C (p.Val1213Leu) c.3559G>C (p.Val1187Leu) | dbSNP |
22 | g.41160688G= | CA2406108628 | EP300 | c.*1557G= (n.*1557G=) c.3637G= (p.Val1213=) c.3559G= (p.Val1187=) | |
22 | g.41160688G>T | CA411696483 | EP300 | c.*1557G>T (n.*1557G>T) c.3637G>T (p.Val1213Phe) c.3559G>T (p.Val1187Phe) | |
22 | g.41160689T>A | CA411696486 | EP300 | c.*1558T>A (n.*1558T>A) c.3638T>A (p.Val1213Asp) c.3560T>A (p.Val1187Asp) | dbSNP |
22 | g.41160689T>C | CA411696488 | EP300 | c.*1558T>C (n.*1558T>C) c.3638T>C (p.Val1213Ala) c.3560T>C (p.Val1187Ala) | dbSNP |
22 | g.41160689T>G | CA411696489 | EP300 | c.*1558T>G (n.*1558T>G) c.3638T>G (p.Val1213Gly) c.3560T>G (p.Val1187Gly) | dbSNP |
22 | g.41160690T>A | CA514646387 | EP300 | c.*1559T>A (n.*1559T>A) c.3639T>A (p.Val1213=) c.3561T>A (p.Val1187=) | dbSNP |
22 | g.41160690T>C | CA514646388 | EP300 | c.*1559T>C (n.*1559T>C) c.3639T>C (p.Val1213=) c.3561T>C (p.Val1187=) | dbSNP |
22 | g.41160690T>G | CA514646389 | EP300 | c.*1559T>G (n.*1559T>G) c.3639T>G (p.Val1213=) c.3561T>G (p.Val1187=) | dbSNP |
22 | g.41160690T= | CA2406108629 | EP300 | c.*1559T= (n.*1559T=) c.3639T= (p.Val1213=) c.3561T= (p.Val1187=) | |
22 | g.41160691T>A | CA411696495 | EP300 | c.*1560T>A (n.*1560T>A) c.3640T>A (p.Ser1214Thr) c.3562T>A (p.Ser1188Thr) | dbSNP |
22 | g.41160691T>C | CA411696497 | EP300 | c.*1560T>C (n.*1560T>C) c.3640T>C (p.Ser1214Pro) c.3562T>C (p.Ser1188Pro) | gnomAD v4 |
22 | g.41160691T>G | CA411696493 | EP300 | c.*1560T>G (n.*1560T>G) c.3640T>G (p.Ser1214Ala) c.3562T>G (p.Ser1188Ala) | dbSNP gnomAD v4 |
22 | g.41160692C>A | CA411696503 | EP300 | c.*1561C>A (n.*1561C>A) c.3641C>A (p.Ser1214Tyr) c.3563C>A (p.Ser1188Tyr) | COSMIC |
22 | g.41160692C= | CA2406108630 | EP300 | c.*1561C= (n.*1561C=) c.3641C= (p.Ser1214=) c.3563C= (p.Ser1188=) | |
22 | g.41160692C>G | CA411696498 | EP300 | c.*1561C>G (n.*1561C>G) c.3641C>G (p.Ser1214Cys) c.3563C>G (p.Ser1188Cys) | |
22 | g.41160692C>T | CA411696500 | EP300 | c.*1561C>T (n.*1561C>T) c.3641C>T (p.Ser1214Phe) c.3563C>T (p.Ser1188Phe) | dbSNP COSMIC |
22 | g.41160693T>A | CA514646395 | EP300 | c.*1562T>A (n.*1562T>A) c.3642T>A (p.Ser1214=) c.3564T>A (p.Ser1188=) | |
22 | g.41160693T>C | CA324545455 | EP300 | c.*1562T>C (n.*1562T>C) c.3642T>C (p.Ser1214=) c.3564T>C (p.Ser1188=) | dbSNP |
22 | g.41160693T>G | CA514646396 | EP300 | c.*1562T>G (n.*1562T>G) c.3642T>G (p.Ser1214=) c.3564T>G (p.Ser1188=) | |
22 | g.41160693T= | CA2406108631 | EP300 | c.*1562T= (n.*1562T=) c.3642T= (p.Ser1214=) c.3564T= (p.Ser1188=) | |
22 | g.41160695dup | CA2740097954 | EP300 | c.*1564dup (n.*1564dup) c.3644dup (p.Leu1215PhefsTer4) c.3566dup (p.Leu1189PhefsTer4) | ClinVar |
22 | g.41160695del | CA2740097955 | EP300 | c.*1564del (n.*1564del) c.3644del (p.Leu1215TrpfsTer12) c.3566del (p.Leu1189TrpfsTer12) | ClinVar |
22 | g.41160694T>A | CA411696508 | EP300 | c.*1563T>A (n.*1563T>A) c.3643T>A (p.Leu1215Met) c.3565T>A (p.Leu1189Met) | dbSNP |
22 | g.41160694T>C | CA514646397 | EP300 | c.*1563T>C (n.*1563T>C) c.3643T>C (p.Leu1215=) c.3565T>C (p.Leu1189=) | |
22 | g.41160694T>G | CA411696509 | EP300 | c.*1563T>G (n.*1563T>G) c.3643T>G (p.Leu1215Val) c.3565T>G (p.Leu1189Val) | |
22 | g.41160695T>A | CA411696511 | EP300 | c.*1564T>A (n.*1564T>A) c.3644T>A (p.Leu1215Ter) c.3566T>A (p.Leu1189Ter) | |
22 | g.41160695T>C | CA411696513 | EP300 | c.*1564T>C (n.*1564T>C) c.3644T>C (p.Leu1215Ser) c.3566T>C (p.Leu1189Ser) | |
22 | g.41160695T>G | CA411696514 | EP300 | c.*1564T>G (n.*1564T>G) c.3644T>G (p.Leu1215Trp) c.3566T>G (p.Leu1189Trp) | |
22 | g.41160696G>A | CA514646402 | EP300 | c.*1565G>A (n.*1565G>A) c.3645G>A (p.Leu1215=) c.3567G>A (p.Leu1189=) | |
22 | g.41160696G>C | CA411696517 | EP300 | c.*1565G>C (n.*1565G>C) c.3645G>C (p.Leu1215Phe) c.3567G>C (p.Leu1189Phe) | |
22 | g.41160696G>T | CA411696520 | EP300 | c.*1565G>T (n.*1565G>T) c.3645G>T (p.Leu1215Phe) c.3567G>T (p.Leu1189Phe) | |
22 | g.41160697G>A | CA411696523 | EP300 | c.*1566G>A (n.*1566G>A) c.3646G>A (p.Gly1216Arg) c.3568G>A (p.Gly1190Arg) | dbSNP |
22 | g.41160697G>C | CA411696525 | EP300 | c.*1566G>C (n.*1566G>C) c.3646G>C (p.Gly1216Arg) c.3568G>C (p.Gly1190Arg) | dbSNP |
22 | g.41160697G>T | CA411696527 | EP300 | c.*1566G>T (n.*1566G>T) c.3646G>T (p.Gly1216Trp) c.3568G>T (p.Gly1190Trp) | dbSNP |
22 | g.41160698G>A | CA411696530 | EP300 | c.*1567G>A (n.*1567G>A) c.3647G>A (p.Gly1216Glu) c.3569G>A (p.Gly1190Glu) | dbSNP |
22 | g.41160698G>C | CA10253174 | EP300 | c.*1567G>C (n.*1567G>C) c.3647G>C (p.Gly1216Ala) c.3569G>C (p.Gly1190Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.41160698G= | CA2406108632 | EP300 | c.*1567G= (n.*1567G=) c.3647G= (p.Gly1216=) c.3569G= (p.Gly1190=) | |
22 | g.41160698G>T | CA411696532 | EP300 | c.*1567G>T (n.*1567G>T) c.3647G>T (p.Gly1216Val) c.3569G>T (p.Gly1190Val) | dbSNP |
22 | g.41160699G>A | CA514646405 | EP300 | c.*1568G>A (n.*1568G>A) c.3648G>A (p.Gly1216=) c.3570G>A (p.Gly1190=) | dbSNP |
22 | g.41160699G>C | CA514646407 | EP300 | c.*1568G>C (n.*1568G>C) c.3648G>C (p.Gly1216=) c.3570G>C (p.Gly1190=) | dbSNP |
22 | g.41160699G= | CA2406108633 | EP300 | c.*1568G= (n.*1568G=) c.3648G= (p.Gly1216=) c.3570G= (p.Gly1190=) | |
22 | g.41160699G>T | CA514646408 | EP300 | c.*1568G>T (n.*1568G>T) c.3648G>T (p.Gly1216=) c.3570G>T (p.Gly1190=) | dbSNP COSMIC |
22 | g.41160700G>A | CA411696538 | EP300 | c.*1569G>A (n.*1569G>A) c.3649G>A (p.Asp1217Asn) c.3571G>A (p.Asp1191Asn) | ClinVar dbSNP |
22 | g.41160700G>C | CA411696541 | EP300 | c.*1569G>C (n.*1569G>C) c.3649G>C (p.Asp1217His) c.3571G>C (p.Asp1191His) | dbSNP |
22 | g.41160700G= | CA2406108634 | EP300 | c.*1569G= (n.*1569G=) c.3649G= (p.Asp1217=) c.3571G= (p.Asp1191=) | |
22 | g.41160700G>T | CA411696543 | EP300 | c.*1569G>T (n.*1569G>T) c.3649G>T (p.Asp1217Tyr) c.3571G>T (p.Asp1191Tyr) | dbSNP |
22 | g.41160701A>C | CA411696546 | EP300 | c.*1570A>C (n.*1570A>C) c.3650A>C (p.Asp1217Ala) c.3572A>C (p.Asp1191Ala) | |
22 | g.41160701A>G | CA411696548 | EP300 | c.*1570A>G (n.*1570A>G) c.3650A>G (p.Asp1217Gly) c.3572A>G (p.Asp1191Gly) | dbSNP |
22 | g.41160701A>T | CA411696551 | EP300 | c.*1570A>T (n.*1570A>T) c.3650A>T (p.Asp1217Val) c.3572A>T (p.Asp1191Val) | dbSNP |
22 | g.41160701dup | CA2695230901 | EP300 | c.*1570dup (n.*1570dup) c.3650dup (p.Asp1217GlufsTer2) c.3572dup (p.Asp1191GlufsTer2) | |
22 | g.41160702T>A | CA411696555 | EP300 | c.*1571T>A (n.*1571T>A) c.3651T>A (p.Asp1217Glu) c.3573T>A (p.Asp1191Glu) | dbSNP gnomAD v4 |
22 | g.41160702T>C | CA514646410 | EP300 | c.*1571T>C (n.*1571T>C) c.3651T>C (p.Asp1217=) c.3573T>C (p.Asp1191=) | dbSNP |
22 | g.41160702T>G | CA411696556 | EP300 | c.*1571T>G (n.*1571T>G) c.3651T>G (p.Asp1217Glu) c.3573T>G (p.Asp1191Glu) | dbSNP |
22 | g.41160703G>A | CA411696558 | EP300 | c.*1572G>A (n.*1572G>A) c.3652G>A (p.Asp1218Asn) c.3574G>A (p.Asp1192Asn) | dbSNP |
22 | g.41160703G>C | CA411696560 | EP300 | c.*1572G>C (n.*1572G>C) c.3652G>C (p.Asp1218His) c.3574G>C (p.Asp1192His) | dbSNP |
22 | g.41160703G>T | CA411696562 | EP300 | c.*1572G>T (n.*1572G>T) c.3652G>T (p.Asp1218Tyr) c.3574G>T (p.Asp1192Tyr) | |
22 | g.41160704A= | CA2406108635 | EP300 | c.*1573A= (n.*1573A=) c.3653A= (p.Asp1218=) c.3575A= (p.Asp1192=) | |
22 | g.41160704A>C | CA411696567 | EP300 | c.*1573A>C (n.*1573A>C) c.3653A>C (p.Asp1218Ala) c.3575A>C (p.Asp1192Ala) | dbSNP |
22 | g.41160704A>G | CA411696570 | EP300 | c.*1573A>G (n.*1573A>G) c.3653A>G (p.Asp1218Gly) c.3575A>G (p.Asp1192Gly) | dbSNP |
22 | g.41160704A>T | CA411696564 | EP300 | c.*1573A>T (n.*1573A>T) c.3653A>T (p.Asp1218Val) c.3575A>T (p.Asp1192Val) | dbSNP |
22 | g.41160705C>A | CA411696573 | EP300 | c.*1574C>A (n.*1574C>A) c.3654C>A (p.Asp1218Glu) c.3576C>A (p.Asp1192Glu) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.41160705C= | CA2406108636 | EP300 | c.*1574C= (n.*1574C=) c.3654C= (p.Asp1218=) c.3576C= (p.Asp1192=) | |
22 | g.41160705C>G | CA411696575 | EP300 | c.*1574C>G (n.*1574C>G) c.3654C>G (p.Asp1218Glu) c.3576C>G (p.Asp1192Glu) | dbSNP |
22 | g.41160705C>T | CA514646414 | EP300 | c.*1574C>T (n.*1574C>T) c.3654C>T (p.Asp1218=) c.3576C>T (p.Asp1192=) | dbSNP gnomAD v4 |
22 | g.41160706C>A | CA411696578 | EP300 | c.*1575C>A (n.*1575C>A) c.3655C>A (p.Pro1219Thr) c.3577C>A (p.Pro1193Thr) | dbSNP |
22 | g.41160706C= | CA2406108637 | EP300 | c.*1575C= (n.*1575C=) c.3655C= (p.Pro1219=) c.3577C= (p.Pro1193=) | |
22 | g.41160706C>G | CA411696581 | EP300 | c.*1575C>G (n.*1575C>G) c.3655C>G (p.Pro1219Ala) c.3577C>G (p.Pro1193Ala) | dbSNP |
22 | g.41160706C>T | CA411696583 | EP300 | c.*1575C>T (n.*1575C>T) c.3655C>T (p.Pro1219Ser) c.3577C>T (p.Pro1193Ser) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.41160707C>A | CA411696585 | EP300 | c.*1576C>A (n.*1576C>A) c.3656C>A (p.Pro1219His) c.3578C>A (p.Pro1193His) | dbSNP |
22 | g.41160707C>G | CA411696588 | EP300 | c.*1576C>G (n.*1576C>G) c.3656C>G (p.Pro1219Arg) c.3578C>G (p.Pro1193Arg) | dbSNP |
22 | g.41160707C>T | CA411696590 | EP300 | c.*1576C>T (n.*1576C>T) c.3656C>T (p.Pro1219Leu) c.3578C>T (p.Pro1193Leu) | dbSNP |
22 | g.41160708T>A | CA514646421 | EP300 | c.*1577T>A (n.*1577T>A) c.3657T>A (p.Pro1219=) c.3579T>A (p.Pro1193=) | dbSNP |
22 | g.41160708T>C | CA514646416 | EP300 | c.*1577T>C (n.*1577T>C) c.3657T>C (p.Pro1219=) c.3579T>C (p.Pro1193=) | dbSNP |
22 | g.41160708T>G | CA514646418 | EP300 | c.*1577T>G (n.*1577T>G) c.3657T>G (p.Pro1219=) c.3579T>G (p.Pro1193=) | |
22 | g.41160709T>A | CA411696592 | EP300 | c.*1578T>A (n.*1578T>A) c.3658T>A (p.Ser1220Thr) c.3580T>A (p.Ser1194Thr) | |
22 | g.41160709T>C | CA10253175 | EP300 | c.*1578T>C (n.*1578T>C) c.3658T>C (p.Ser1220Pro) c.3580T>C (p.Ser1194Pro) | dbSNP ExAC gnomAD v2 |
22 | g.41160709T>G | CA411696598 | EP300 | c.*1578T>G (n.*1578T>G) c.3658T>G (p.Ser1220Ala) c.3580T>G (p.Ser1194Ala) | |
22 | g.41160709T= | CA2406108638 | EP300 | c.*1578T= (n.*1578T=) c.3658T= (p.Ser1220=) c.3580T= (p.Ser1194=) | |
22 | g.41160710C>A | CA411696600 | EP300 | c.*1579C>A (n.*1579C>A) c.3659C>A (p.Ser1220Tyr) c.3581C>A (p.Ser1194Tyr) | dbSNP |
22 | g.41160710C= | CA2406108639 | EP300 | c.*1579C= (n.*1579C=) c.3659C= (p.Ser1220=) c.3581C= (p.Ser1194=) | |
22 | g.41160710C>G | CA411696603 | EP300 | c.*1579C>G (n.*1579C>G) c.3659C>G (p.Ser1220Cys) c.3581C>G (p.Ser1194Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.41160710C>T | CA411696606 | EP300 | c.*1579C>T (n.*1579C>T) c.3659C>T (p.Ser1220Phe) c.3581C>T (p.Ser1194Phe) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.41160712del | CA658793930 | EP300 | c.*1581del (n.*1581del) c.3661del (p.Gln1221SerfsTer6) c.3583del (p.Gln1195SerfsTer6) | |
22 | g.41160711C>A | CA514646422 | EP300 | c.*1580C>A (n.*1580C>A) c.3660C>A (p.Ser1220=) c.3582C>A (p.Ser1194=) | dbSNP |
22 | g.41160711C= | CA2406108640 | EP300 | c.*1580C= (n.*1580C=) c.3660C= (p.Ser1220=) c.3582C= (p.Ser1194=) | |
22 | g.41160711C>G | CA514646423 | EP300 | c.*1580C>G (n.*1580C>G) c.3660C>G (p.Ser1220=) c.3582C>G (p.Ser1194=) | dbSNP |
22 | g.41160711C>T | CA514646424 | EP300 | c.*1580C>T (n.*1580C>T) c.3660C>T (p.Ser1220=) c.3582C>T (p.Ser1194=) | dbSNP |
22 | g.41160712C>A | CA411696614 | EP300 | c.*1581C>A (n.*1581C>A) c.3661C>A (p.Gln1221Lys) c.3583C>A (p.Gln1195Lys) | |
22 | g.41160712C>G | CA411696612 | EP300 | c.*1581C>G (n.*1581C>G) c.3661C>G (p.Gln1221Glu) c.3583C>G (p.Gln1195Glu) | |
22 | g.41160712C>T | CA411696609 | EP300 | c.*1581C>T (n.*1581C>T) c.3661C>T (p.Gln1221Ter) c.3583C>T (p.Gln1195Ter) | dbSNP |
22 | g.41160713A>C | CA411696618 | EP300 | c.*1582A>C (n.*1582A>C) c.3662A>C (p.Gln1221Pro) c.3584A>C (p.Gln1195Pro) | |
22 | g.41160713A>G | CA411696619 | EP300 | c.*1582A>G (n.*1582A>G) c.3662A>G (p.Gln1221Arg) c.3584A>G (p.Gln1195Arg) | dbSNP |
22 | g.41160713A>T | CA411696621 | EP300 | c.*1582A>T (n.*1582A>T) c.3662A>T (p.Gln1221Leu) c.3584A>T (p.Gln1195Leu) | dbSNP |
22 | g.41160714G>A | CA514646430 | EP300 | c.*1583G>A (n.*1583G>A) c.3663G>A (p.Gln1221=) c.3585G>A (p.Gln1195=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.41160714G>C | CA411696624 | EP300 | c.*1583G>C (n.*1583G>C) c.3663G>C (p.Gln1221His) c.3585G>C (p.Gln1195His) | dbSNP |
22 | g.41160714G= | CA2406108641 | EP300 | c.*1583G= (n.*1583G=) c.3663G= (p.Gln1221=) c.3585G= (p.Gln1195=) | |
22 | g.41160714G>T | CA411696626 | EP300 | c.*1583G>T (n.*1583G>T) c.3663G>T (p.Gln1221His) c.3585G>T (p.Gln1195His) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.41160715C>A | CA411696629 | EP300 | c.*1584C>A (n.*1584C>A) c.3664C>A (p.Pro1222Thr) c.3586C>A (p.Pro1196Thr) | dbSNP COSMIC |
22 | g.41160715C>G | CA411696632 | EP300 | c.*1584C>G (n.*1584C>G) c.3664C>G (p.Pro1222Ala) c.3586C>G (p.Pro1196Ala) | dbSNP |
22 | g.41160715C>T | CA411696635 | EP300 | c.*1584C>T (n.*1584C>T) c.3664C>T (p.Pro1222Ser) c.3586C>T (p.Pro1196Ser) | dbSNP gnomAD v4 |
22 | g.41160716C>A | CA271494 | EP300 | c.*1585C>A (n.*1585C>A) c.3665C>A (p.Pro1222His) c.3587C>A (p.Pro1196His) | ClinVar dbSNP |
22 | g.41160716C= | CA2406108642 | EP300 | c.*1585C= (n.*1585C=) c.3665C= (p.Pro1222=) c.3587C= (p.Pro1196=) | |
22 | g.41160716C>G | CA411696640 | EP300 | c.*1585C>G (n.*1585C>G) c.3665C>G (p.Pro1222Arg) c.3587C>G (p.Pro1196Arg) | dbSNP |
22 | g.41160716C>T | CA411696643 | EP300 | c.*1585C>T (n.*1585C>T) c.3665C>T (p.Pro1222Leu) c.3587C>T (p.Pro1196Leu) | dbSNP |
22 | g.41160717T>A | CA514646434 | EP300 | c.*1586T>A (n.*1586T>A) c.3666T>A (p.Pro1222=) c.3588T>A (p.Pro1196=) | dbSNP |
22 | g.41160717T>C | CA514646436 | EP300 | c.*1586T>C (n.*1586T>C) c.3666T>C (p.Pro1222=) c.3588T>C (p.Pro1196=) | dbSNP |
22 | g.41160717T>G | CA514646435 | EP300 | c.*1586T>G (n.*1586T>G) c.3666T>G (p.Pro1222=) c.3588T>G (p.Pro1196=) | |
22 | g.41160718C>A | CA411696647 | EP300 | c.*1587C>A (n.*1587C>A) c.3667C>A (p.Gln1223Lys) c.3589C>A (p.Gln1197Lys) | |
22 | g.41160718C>G | CA411696649 | EP300 | c.*1587C>G (n.*1587C>G) c.3667C>G (p.Gln1223Glu) c.3589C>G (p.Gln1197Glu) | COSMIC |
22 | g.41160718C>T | CA411696651 | EP300 | c.*1587C>T (n.*1587C>T) c.3667C>T (p.Gln1223Ter) c.3589C>T (p.Gln1197Ter) | COSMIC |