Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.25742076A>C | CA346073534 | ASXL2 | c.4258T>G (p.Cys1420Gly) c.4261T>G (p.Cys1421Gly) c.4177T>G (p.Cys1393Gly) c.2710T>G (p.Cys904Gly) c.3895T>G (p.Cys1299Gly) c.3481T>G (p.Cys1161Gly) c.4087T>G (p.Cys1363Gly) c.4441T>G (p.Cys1481Gly) | |
2 | g.25742076A>G | CA346073535 | ASXL2 | c.4258T>C (p.Cys1420Arg) c.4261T>C (p.Cys1421Arg) c.4177T>C (p.Cys1393Arg) c.2710T>C (p.Cys904Arg) c.3895T>C (p.Cys1299Arg) c.3481T>C (p.Cys1161Arg) c.4087T>C (p.Cys1363Arg) c.4441T>C (p.Cys1481Arg) | |
2 | g.25742076A>T | CA346073536 | ASXL2 | c.4258T>A (p.Cys1420Ser) c.4261T>A (p.Cys1421Ser) c.4177T>A (p.Cys1393Ser) c.2710T>A (p.Cys904Ser) c.3895T>A (p.Cys1299Ser) c.3481T>A (p.Cys1161Ser) c.4087T>A (p.Cys1363Ser) c.4441T>A (p.Cys1481Ser) | |
2 | g.25742077A>C | CA346073537 | ASXL2 | c.4257T>G (p.Asp1419Glu) c.4260T>G (p.Asp1420Glu) c.4176T>G (p.Asp1392Glu) c.2709T>G (p.Asp903Glu) c.3894T>G (p.Asp1298Glu) c.3480T>G (p.Asp1160Glu) c.4086T>G (p.Asp1362Glu) c.4440T>G (p.Asp1480Glu) | |
2 | g.25742077A>G | CA425181266 | ASXL2 | c.4257T>C (p.Asp1419=) c.4260T>C (p.Asp1420=) c.4176T>C (p.Asp1392=) c.2709T>C (p.Asp903=) c.3894T>C (p.Asp1298=) c.3480T>C (p.Asp1160=) c.4086T>C (p.Asp1362=) c.4440T>C (p.Asp1480=) | |
2 | g.25742077A>T | CA346073538 | ASXL2 | c.4257T>A (p.Asp1419Glu) c.4260T>A (p.Asp1420Glu) c.4176T>A (p.Asp1392Glu) c.2709T>A (p.Asp903Glu) c.3894T>A (p.Asp1298Glu) c.3480T>A (p.Asp1160Glu) c.4086T>A (p.Asp1362Glu) c.4440T>A (p.Asp1480Glu) | |
2 | g.25742082_25742084del | CA2658189292 | ASXL2 | c.4255_4257del (p.Asp1419del) c.4258_4260del (p.Asp1420del) c.4174_4176del (p.Asp1392del) c.2707_2709del (p.Asp903del) c.3892_3894del (p.Asp1298del) c.3478_3480del (p.Asp1160del) c.4084_4086del (p.Asp1362del) c.4438_4440del (p.Asp1480del) | gnomAD v4 |
2 | g.25742078T>A | CA346073540 | ASXL2 | c.4256A>T (p.Asp1419Val) c.4259A>T (p.Asp1420Val) c.4175A>T (p.Asp1392Val) c.2708A>T (p.Asp903Val) c.3893A>T (p.Asp1298Val) c.3479A>T (p.Asp1160Val) c.4085A>T (p.Asp1362Val) c.4439A>T (p.Asp1480Val) | |
2 | g.25742078T>C | CA346073541 | ASXL2 | c.4256A>G (p.Asp1419Gly) c.4259A>G (p.Asp1420Gly) c.4175A>G (p.Asp1392Gly) c.2708A>G (p.Asp903Gly) c.3893A>G (p.Asp1298Gly) c.3479A>G (p.Asp1160Gly) c.4085A>G (p.Asp1362Gly) c.4439A>G (p.Asp1480Gly) | ClinVar gnomAD v4 |
2 | g.25742078T>G | CA346073539 | ASXL2 | c.4256A>C (p.Asp1419Ala) c.4259A>C (p.Asp1420Ala) c.4175A>C (p.Asp1392Ala) c.2708A>C (p.Asp903Ala) c.3893A>C (p.Asp1298Ala) c.3479A>C (p.Asp1160Ala) c.4085A>C (p.Asp1362Ala) c.4439A>C (p.Asp1480Ala) | |
2 | g.25742079C>A | CA346073542 | ASXL2 | c.4255G>T (p.Asp1419Tyr) c.4258G>T (p.Asp1420Tyr) c.4174G>T (p.Asp1392Tyr) c.2707G>T (p.Asp903Tyr) c.3892G>T (p.Asp1298Tyr) c.3478G>T (p.Asp1160Tyr) c.4084G>T (p.Asp1362Tyr) c.4438G>T (p.Asp1480Tyr) | |
2 | g.25742079C>G | CA346073543 | ASXL2 | c.4255G>C (p.Asp1419His) c.4258G>C (p.Asp1420His) c.4174G>C (p.Asp1392His) c.2707G>C (p.Asp903His) c.3892G>C (p.Asp1298His) c.3478G>C (p.Asp1160His) c.4084G>C (p.Asp1362His) c.4438G>C (p.Asp1480His) | |
2 | g.25742079C>T | CA346073544 | ASXL2 | c.4255G>A (p.Asp1419Asn) c.4258G>A (p.Asp1420Asn) c.4174G>A (p.Asp1392Asn) c.2707G>A (p.Asp903Asn) c.3892G>A (p.Asp1298Asn) c.3478G>A (p.Asp1160Asn) c.4084G>A (p.Asp1362Asn) c.4438G>A (p.Asp1480Asn) | |
2 | g.25742080A= | CA1239490318 | ASXL2 | c.4254T= (p.Asp1418=) c.4257T= (p.Asp1419=) c.4173T= (p.Asp1391=) c.2706T= (p.Asp902=) c.3891T= (p.Asp1297=) c.3477T= (p.Asp1159=) c.4083T= (p.Asp1361=) c.4437T= (p.Asp1479=) | |
2 | g.25742080A>C | CA346073545 | ASXL2 | c.4254T>G (p.Asp1418Glu) c.4257T>G (p.Asp1419Glu) c.4173T>G (p.Asp1391Glu) c.2706T>G (p.Asp902Glu) c.3891T>G (p.Asp1297Glu) c.3477T>G (p.Asp1159Glu) c.4083T>G (p.Asp1361Glu) c.4437T>G (p.Asp1479Glu) | |
2 | g.25742080A>G | CA425181267 | ASXL2 | c.4254T>C (p.Asp1418=) c.4257T>C (p.Asp1419=) c.4173T>C (p.Asp1391=) c.2706T>C (p.Asp902=) c.3891T>C (p.Asp1297=) c.3477T>C (p.Asp1159=) c.4083T>C (p.Asp1361=) c.4437T>C (p.Asp1479=) | ClinVar dbSNP |
2 | g.25742080A>T | CA346073546 | ASXL2 | c.4254T>A (p.Asp1418Glu) c.4257T>A (p.Asp1419Glu) c.4173T>A (p.Asp1391Glu) c.2706T>A (p.Asp902Glu) c.3891T>A (p.Asp1297Glu) c.3477T>A (p.Asp1159Glu) c.4083T>A (p.Asp1361Glu) c.4437T>A (p.Asp1479Glu) | |
2 | g.25742081T>A | CA346073549 | ASXL2 | c.4253A>T (p.Asp1418Val) c.4256A>T (p.Asp1419Val) c.4172A>T (p.Asp1391Val) c.2705A>T (p.Asp902Val) c.3890A>T (p.Asp1297Val) c.3476A>T (p.Asp1159Val) c.4082A>T (p.Asp1361Val) c.4436A>T (p.Asp1479Val) | |
2 | g.25742081T>C | CA346073548 | ASXL2 | c.4253A>G (p.Asp1418Gly) c.4256A>G (p.Asp1419Gly) c.4172A>G (p.Asp1391Gly) c.2705A>G (p.Asp902Gly) c.3890A>G (p.Asp1297Gly) c.3476A>G (p.Asp1159Gly) c.4082A>G (p.Asp1361Gly) c.4436A>G (p.Asp1479Gly) | gnomAD v4 |
2 | g.25742081T>G | CA346073547 | ASXL2 | c.4253A>C (p.Asp1418Ala) c.4256A>C (p.Asp1419Ala) c.4172A>C (p.Asp1391Ala) c.2705A>C (p.Asp902Ala) c.3890A>C (p.Asp1297Ala) c.3476A>C (p.Asp1159Ala) c.4082A>C (p.Asp1361Ala) c.4436A>C (p.Asp1479Ala) | |
2 | g.25742082C>A | CA346073550 | ASXL2 | c.4252G>T (p.Asp1418Tyr) c.4255G>T (p.Asp1419Tyr) c.4171G>T (p.Asp1391Tyr) c.2704G>T (p.Asp902Tyr) c.3889G>T (p.Asp1297Tyr) c.3475G>T (p.Asp1159Tyr) c.4081G>T (p.Asp1361Tyr) c.4435G>T (p.Asp1479Tyr) | |
2 | g.25742082C>G | CA346073551 | ASXL2 | c.4252G>C (p.Asp1418His) c.4255G>C (p.Asp1419His) c.4171G>C (p.Asp1391His) c.2704G>C (p.Asp902His) c.3889G>C (p.Asp1297His) c.3475G>C (p.Asp1159His) c.4081G>C (p.Asp1361His) c.4435G>C (p.Asp1479His) | |
2 | g.25742082C>T | CA346073552 | ASXL2 | c.4252G>A (p.Asp1418Asn) c.4255G>A (p.Asp1419Asn) c.4171G>A (p.Asp1391Asn) c.2704G>A (p.Asp902Asn) c.3889G>A (p.Asp1297Asn) c.3475G>A (p.Asp1159Asn) c.4081G>A (p.Asp1361Asn) c.4435G>A (p.Asp1479Asn) | |
2 | g.25742083A= | CA1239490319 | ASXL2 | c.4251T= (p.His1417=) c.4254T= (p.His1418=) c.4170T= (p.His1390=) c.2703T= (p.His901=) c.3888T= (p.His1296=) c.3474T= (p.His1158=) c.4080T= (p.His1360=) c.4434T= (p.His1478=) | |
2 | g.25742083A>C | CA346073553 | ASXL2 | c.4251T>G (p.His1417Gln) c.4254T>G (p.His1418Gln) c.4170T>G (p.His1390Gln) c.2703T>G (p.His901Gln) c.3888T>G (p.His1296Gln) c.3474T>G (p.His1158Gln) c.4080T>G (p.His1360Gln) c.4434T>G (p.His1478Gln) | |
2 | g.25742083A>G | CA43734131 | ASXL2 | c.4251T>C (p.His1417=) c.4254T>C (p.His1418=) c.4170T>C (p.His1390=) c.2703T>C (p.His901=) c.3888T>C (p.His1296=) c.3474T>C (p.His1158=) c.4080T>C (p.His1360=) c.4434T>C (p.His1478=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742083A>T | CA346073554 | ASXL2 | c.4251T>A (p.His1417Gln) c.4254T>A (p.His1418Gln) c.4170T>A (p.His1390Gln) c.2703T>A (p.His901Gln) c.3888T>A (p.His1296Gln) c.3474T>A (p.His1158Gln) c.4080T>A (p.His1360Gln) c.4434T>A (p.His1478Gln) | |
2 | g.25742084T>A | CA346073556 | ASXL2 | c.4250A>T (p.His1417Leu) c.4253A>T (p.His1418Leu) c.4169A>T (p.His1390Leu) c.2702A>T (p.His901Leu) c.3887A>T (p.His1296Leu) c.3473A>T (p.His1158Leu) c.4079A>T (p.His1360Leu) c.4433A>T (p.His1478Leu) | |
2 | g.25742084T>C | CA1557326 | ASXL2 | c.4250A>G (p.His1417Arg) c.4253A>G (p.His1418Arg) c.4169A>G (p.His1390Arg) c.2702A>G (p.His901Arg) c.3887A>G (p.His1296Arg) c.3473A>G (p.His1158Arg) c.4079A>G (p.His1360Arg) c.4433A>G (p.His1478Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25742084T>G | CA346073555 | ASXL2 | c.4250A>C (p.His1417Pro) c.4253A>C (p.His1418Pro) c.4169A>C (p.His1390Pro) c.2702A>C (p.His901Pro) c.3887A>C (p.His1296Pro) c.3473A>C (p.His1158Pro) c.4079A>C (p.His1360Pro) c.4433A>C (p.His1478Pro) | |
2 | g.25742084T= | CA1239490320 | ASXL2 | c.4250A= (p.His1417=) c.4253A= (p.His1418=) c.4169A= (p.His1390=) c.2702A= (p.His901=) c.3887A= (p.His1296=) c.3473A= (p.His1158=) c.4079A= (p.His1360=) c.4433A= (p.His1478=) | |
2 | g.25742085G>A | CA346073557 | ASXL2 | c.4249C>T (p.His1417Tyr) c.4252C>T (p.His1418Tyr) c.4168C>T (p.His1390Tyr) c.2701C>T (p.His901Tyr) c.3886C>T (p.His1296Tyr) c.3472C>T (p.His1158Tyr) c.4078C>T (p.His1360Tyr) c.4432C>T (p.His1478Tyr) | |
2 | g.25742085G>C | CA346073559 | ASXL2 | c.4249C>G (p.His1417Asp) c.4252C>G (p.His1418Asp) c.4168C>G (p.His1390Asp) c.2701C>G (p.His901Asp) c.3886C>G (p.His1296Asp) c.3472C>G (p.His1158Asp) c.4078C>G (p.His1360Asp) c.4432C>G (p.His1478Asp) | |
2 | g.25742085G>T | CA346073558 | ASXL2 | c.4249C>A (p.His1417Asn) c.4252C>A (p.His1418Asn) c.4168C>A (p.His1390Asn) c.2701C>A (p.His901Asn) c.3886C>A (p.His1296Asn) c.3472C>A (p.His1158Asn) c.4078C>A (p.His1360Asn) c.4432C>A (p.His1478Asn) | |
2 | g.25742086G>A | CA425181270 | ASXL2 | c.4248C>T (p.Cys1416=) c.4251C>T (p.Cys1417=) c.4167C>T (p.Cys1389=) c.2700C>T (p.Cys900=) c.3885C>T (p.Cys1295=) c.3471C>T (p.Cys1157=) c.4077C>T (p.Cys1359=) c.4431C>T (p.Cys1477=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.25742086G>C | CA346073560 | ASXL2 | c.4248C>G (p.Cys1416Trp) c.4251C>G (p.Cys1417Trp) c.4167C>G (p.Cys1389Trp) c.2700C>G (p.Cys900Trp) c.3885C>G (p.Cys1295Trp) c.3471C>G (p.Cys1157Trp) c.4077C>G (p.Cys1359Trp) c.4431C>G (p.Cys1477Trp) | |
2 | g.25742086G= | CA1239490321 | ASXL2 | c.4248C= (p.Cys1416=) c.4251C= (p.Cys1417=) c.4167C= (p.Cys1389=) c.2700C= (p.Cys900=) c.3885C= (p.Cys1295=) c.3471C= (p.Cys1157=) c.4077C= (p.Cys1359=) c.4431C= (p.Cys1477=) | |
2 | g.25742086G>T | CA346073561 | ASXL2 | c.4248C>A (p.Cys1416Ter) c.4251C>A (p.Cys1417Ter) c.4167C>A (p.Cys1389Ter) c.2700C>A (p.Cys900Ter) c.3885C>A (p.Cys1295Ter) c.3471C>A (p.Cys1157Ter) c.4077C>A (p.Cys1359Ter) c.4431C>A (p.Cys1477Ter) | |
2 | g.25742087C>A | CA346073562 | ASXL2 | c.4247G>T (p.Cys1416Phe) c.4250G>T (p.Cys1417Phe) c.4166G>T (p.Cys1389Phe) c.2699G>T (p.Cys900Phe) c.3884G>T (p.Cys1295Phe) c.3470G>T (p.Cys1157Phe) c.4076G>T (p.Cys1359Phe) c.4430G>T (p.Cys1477Phe) | |
2 | g.25742087C>G | CA346073563 | ASXL2 | c.4247G>C (p.Cys1416Ser) c.4250G>C (p.Cys1417Ser) c.4166G>C (p.Cys1389Ser) c.2699G>C (p.Cys900Ser) c.3884G>C (p.Cys1295Ser) c.3470G>C (p.Cys1157Ser) c.4076G>C (p.Cys1359Ser) c.4430G>C (p.Cys1477Ser) | |
2 | g.25742087C>T | CA346073564 | ASXL2 | c.4247G>A (p.Cys1416Tyr) c.4250G>A (p.Cys1417Tyr) c.4166G>A (p.Cys1389Tyr) c.2699G>A (p.Cys900Tyr) c.3884G>A (p.Cys1295Tyr) c.3470G>A (p.Cys1157Tyr) c.4076G>A (p.Cys1359Tyr) c.4430G>A (p.Cys1477Tyr) | |
2 | g.25742088A>C | CA346073565 | ASXL2 | c.4246T>G (p.Cys1416Gly) c.4249T>G (p.Cys1417Gly) c.4165T>G (p.Cys1389Gly) c.2698T>G (p.Cys900Gly) c.3883T>G (p.Cys1295Gly) c.3469T>G (p.Cys1157Gly) c.4075T>G (p.Cys1359Gly) c.4429T>G (p.Cys1477Gly) | |
2 | g.25742088A>G | CA346073566 | ASXL2 | c.4246T>C (p.Cys1416Arg) c.4249T>C (p.Cys1417Arg) c.4165T>C (p.Cys1389Arg) c.2698T>C (p.Cys900Arg) c.3883T>C (p.Cys1295Arg) c.3469T>C (p.Cys1157Arg) c.4075T>C (p.Cys1359Arg) c.4429T>C (p.Cys1477Arg) | |
2 | g.25742088A>T | CA346073567 | ASXL2 | c.4246T>A (p.Cys1416Ser) c.4249T>A (p.Cys1417Ser) c.4165T>A (p.Cys1389Ser) c.2698T>A (p.Cys900Ser) c.3883T>A (p.Cys1295Ser) c.3469T>A (p.Cys1157Ser) c.4075T>A (p.Cys1359Ser) c.4429T>A (p.Cys1477Ser) | |
2 | g.25742089G>A | CA425181273 | ASXL2 | c.4245C>T (p.Phe1415=) c.4248C>T (p.Phe1416=) c.4164C>T (p.Phe1388=) c.2697C>T (p.Phe899=) c.3882C>T (p.Phe1294=) c.3468C>T (p.Phe1156=) c.4074C>T (p.Phe1358=) c.4428C>T (p.Phe1476=) | |
2 | g.25742089G>C | CA346073568 | ASXL2 | c.4245C>G (p.Phe1415Leu) c.4248C>G (p.Phe1416Leu) c.4164C>G (p.Phe1388Leu) c.2697C>G (p.Phe899Leu) c.3882C>G (p.Phe1294Leu) c.3468C>G (p.Phe1156Leu) c.4074C>G (p.Phe1358Leu) c.4428C>G (p.Phe1476Leu) | |
2 | g.25742089G>T | CA346073569 | ASXL2 | c.4245C>A (p.Phe1415Leu) c.4248C>A (p.Phe1416Leu) c.4164C>A (p.Phe1388Leu) c.2697C>A (p.Phe899Leu) c.3882C>A (p.Phe1294Leu) c.3468C>A (p.Phe1156Leu) c.4074C>A (p.Phe1358Leu) c.4428C>A (p.Phe1476Leu) | |
2 | g.25742090A>C | CA346073570 | ASXL2 | c.4244T>G (p.Phe1415Cys) c.4247T>G (p.Phe1416Cys) c.4163T>G (p.Phe1388Cys) c.2696T>G (p.Phe899Cys) c.3881T>G (p.Phe1294Cys) c.3467T>G (p.Phe1156Cys) c.4073T>G (p.Phe1358Cys) c.4427T>G (p.Phe1476Cys) | |
2 | g.25742090A>G | CA346073571 | ASXL2 | c.4244T>C (p.Phe1415Ser) c.4247T>C (p.Phe1416Ser) c.4163T>C (p.Phe1388Ser) c.2696T>C (p.Phe899Ser) c.3881T>C (p.Phe1294Ser) c.3467T>C (p.Phe1156Ser) c.4073T>C (p.Phe1358Ser) c.4427T>C (p.Phe1476Ser) | |
2 | g.25742090A>T | CA346073572 | ASXL2 | c.4244T>A (p.Phe1415Tyr) c.4247T>A (p.Phe1416Tyr) c.4163T>A (p.Phe1388Tyr) c.2696T>A (p.Phe899Tyr) c.3881T>A (p.Phe1294Tyr) c.3467T>A (p.Phe1156Tyr) c.4073T>A (p.Phe1358Tyr) c.4427T>A (p.Phe1476Tyr) | |
2 | g.25742091A>C | CA346073573 | ASXL2 | c.4243T>G (p.Phe1415Val) c.4246T>G (p.Phe1416Val) c.4162T>G (p.Phe1388Val) c.2695T>G (p.Phe899Val) c.3880T>G (p.Phe1294Val) c.3466T>G (p.Phe1156Val) c.4072T>G (p.Phe1358Val) c.4426T>G (p.Phe1476Val) | |
2 | g.25742091A>G | CA346073575 | ASXL2 | c.4243T>C (p.Phe1415Leu) c.4246T>C (p.Phe1416Leu) c.4162T>C (p.Phe1388Leu) c.2695T>C (p.Phe899Leu) c.3880T>C (p.Phe1294Leu) c.3466T>C (p.Phe1156Leu) c.4072T>C (p.Phe1358Leu) c.4426T>C (p.Phe1476Leu) | |
2 | g.25742091A>T | CA346073574 | ASXL2 | c.4243T>A (p.Phe1415Ile) c.4246T>A (p.Phe1416Ile) c.4162T>A (p.Phe1388Ile) c.2695T>A (p.Phe899Ile) c.3880T>A (p.Phe1294Ile) c.3466T>A (p.Phe1156Ile) c.4072T>A (p.Phe1358Ile) c.4426T>A (p.Phe1476Ile) | |
2 | g.25742092A= | CA1239490322 | ASXL2 | c.4242T= (p.Ala1414=) c.4245T= (p.Ala1415=) c.4161T= (p.Ala1387=) c.2694T= (p.Ala898=) c.3879T= (p.Ala1293=) c.3465T= (p.Ala1155=) c.4071T= (p.Ala1357=) c.4425T= (p.Ala1475=) | |
2 | g.25742092A>C | CA1557329 | ASXL2 | c.4242T>G (p.Ala1414=) c.4245T>G (p.Ala1415=) c.4161T>G (p.Ala1387=) c.2694T>G (p.Ala898=) c.3879T>G (p.Ala1293=) c.3465T>G (p.Ala1155=) c.4071T>G (p.Ala1357=) c.4425T>G (p.Ala1475=) | dbSNP ExAC gnomAD v2 |
2 | g.25742092A>G | CA1557327 | ASXL2 | c.4242T>C (p.Ala1414=) c.4245T>C (p.Ala1415=) c.4161T>C (p.Ala1387=) c.2694T>C (p.Ala898=) c.3879T>C (p.Ala1293=) c.3465T>C (p.Ala1155=) c.4071T>C (p.Ala1357=) c.4425T>C (p.Ala1475=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25742092A>T | CA1557328 | ASXL2 | c.4242T>A (p.Ala1414=) c.4245T>A (p.Ala1415=) c.4161T>A (p.Ala1387=) c.2694T>A (p.Ala898=) c.3879T>A (p.Ala1293=) c.3465T>A (p.Ala1155=) c.4071T>A (p.Ala1357=) c.4425T>A (p.Ala1475=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25742093G>A | CA43734139 | ASXL2 | c.4241C>T (p.Ala1414Val) c.4244C>T (p.Ala1415Val) c.4160C>T (p.Ala1387Val) c.2693C>T (p.Ala898Val) c.3878C>T (p.Ala1293Val) c.3464C>T (p.Ala1155Val) c.4070C>T (p.Ala1357Val) c.4424C>T (p.Ala1475Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25742093G>C | CA346073576 | ASXL2 | c.4241C>G (p.Ala1414Gly) c.4244C>G (p.Ala1415Gly) c.4160C>G (p.Ala1387Gly) c.2693C>G (p.Ala898Gly) c.3878C>G (p.Ala1293Gly) c.3464C>G (p.Ala1155Gly) c.4070C>G (p.Ala1357Gly) c.4424C>G (p.Ala1475Gly) | |
2 | g.25742093G= | CA1239490323 | ASXL2 | c.4241C= (p.Ala1414=) c.4244C= (p.Ala1415=) c.4160C= (p.Ala1387=) c.2693C= (p.Ala898=) c.3878C= (p.Ala1293=) c.3464C= (p.Ala1155=) c.4070C= (p.Ala1357=) c.4424C= (p.Ala1475=) | |
2 | g.25742093G>T | CA346073577 | ASXL2 | c.4241C>A (p.Ala1414Asp) c.4244C>A (p.Ala1415Asp) c.4160C>A (p.Ala1387Asp) c.2693C>A (p.Ala898Asp) c.3878C>A (p.Ala1293Asp) c.3464C>A (p.Ala1155Asp) c.4070C>A (p.Ala1357Asp) c.4424C>A (p.Ala1475Asp) | |
2 | g.25742094C>A | CA346073578 | ASXL2 | c.4240G>T (p.Ala1414Ser) c.4243G>T (p.Ala1415Ser) c.4159G>T (p.Ala1387Ser) c.2692G>T (p.Ala898Ser) c.3877G>T (p.Ala1293Ser) c.3463G>T (p.Ala1155Ser) c.4069G>T (p.Ala1357Ser) c.4423G>T (p.Ala1475Ser) | |
2 | g.25742094C= | CA1239490324 | ASXL2 | c.4240G= (p.Ala1414=) c.4243G= (p.Ala1415=) c.4159G= (p.Ala1387=) c.2692G= (p.Ala898=) c.3877G= (p.Ala1293=) c.3463G= (p.Ala1155=) c.4069G= (p.Ala1357=) c.4423G= (p.Ala1475=) | |
2 | g.25742094C>G | CA346073579 | ASXL2 | c.4240G>C (p.Ala1414Pro) c.4243G>C (p.Ala1415Pro) c.4159G>C (p.Ala1387Pro) c.2692G>C (p.Ala898Pro) c.3877G>C (p.Ala1293Pro) c.3463G>C (p.Ala1155Pro) c.4069G>C (p.Ala1357Pro) c.4423G>C (p.Ala1475Pro) | |
2 | g.25742094C>T | CA1557330 | ASXL2 | c.4240G>A (p.Ala1414Thr) c.4243G>A (p.Ala1415Thr) c.4159G>A (p.Ala1387Thr) c.2692G>A (p.Ala898Thr) c.3877G>A (p.Ala1293Thr) c.3463G>A (p.Ala1155Thr) c.4069G>A (p.Ala1357Thr) c.4423G>A (p.Ala1475Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742095G>A | CA1557331 | ASXL2 | c.4239C>T (p.Gly1413=) c.4242C>T (p.Gly1414=) c.4158C>T (p.Gly1386=) c.2691C>T (p.Gly897=) c.3876C>T (p.Gly1292=) c.3462C>T (p.Gly1154=) c.4068C>T (p.Gly1356=) c.4422C>T (p.Gly1474=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742095G>C | CA425181281 | ASXL2 | c.4239C>G (p.Gly1413=) c.4242C>G (p.Gly1414=) c.4158C>G (p.Gly1386=) c.2691C>G (p.Gly897=) c.3876C>G (p.Gly1292=) c.3462C>G (p.Gly1154=) c.4068C>G (p.Gly1356=) c.4422C>G (p.Gly1474=) | |
2 | g.25742095G= | CA1239490325 | ASXL2 | c.4239C= (p.Gly1413=) c.4242C= (p.Gly1414=) c.4158C= (p.Gly1386=) c.2691C= (p.Gly897=) c.3876C= (p.Gly1292=) c.3462C= (p.Gly1154=) c.4068C= (p.Gly1356=) c.4422C= (p.Gly1474=) | |
2 | g.25742095G>T | CA425181279 | ASXL2 | c.4239C>A (p.Gly1413=) c.4242C>A (p.Gly1414=) c.4158C>A (p.Gly1386=) c.2691C>A (p.Gly897=) c.3876C>A (p.Gly1292=) c.3462C>A (p.Gly1154=) c.4068C>A (p.Gly1356=) c.4422C>A (p.Gly1474=) | |
2 | g.25742096C>A | CA346073582 | ASXL2 | c.4238G>T (p.Gly1413Val) c.4241G>T (p.Gly1414Val) c.4157G>T (p.Gly1386Val) c.2690G>T (p.Gly897Val) c.3875G>T (p.Gly1292Val) c.3461G>T (p.Gly1154Val) c.4067G>T (p.Gly1356Val) c.4421G>T (p.Gly1474Val) | |
2 | g.25742096C>G | CA346073581 | ASXL2 | c.4238G>C (p.Gly1413Ala) c.4241G>C (p.Gly1414Ala) c.4157G>C (p.Gly1386Ala) c.2690G>C (p.Gly897Ala) c.3875G>C (p.Gly1292Ala) c.3461G>C (p.Gly1154Ala) c.4067G>C (p.Gly1356Ala) c.4421G>C (p.Gly1474Ala) | |
2 | g.25742096C>T | CA346073580 | ASXL2 | c.4238G>A (p.Gly1413Asp) c.4241G>A (p.Gly1414Asp) c.4157G>A (p.Gly1386Asp) c.2690G>A (p.Gly897Asp) c.3875G>A (p.Gly1292Asp) c.3461G>A (p.Gly1154Asp) c.4067G>A (p.Gly1356Asp) c.4421G>A (p.Gly1474Asp) | |
2 | g.25742097C>A | CA346073585 | ASXL2 | c.4237G>T (p.Gly1413Cys) c.4240G>T (p.Gly1414Cys) c.4156G>T (p.Gly1386Cys) c.2689G>T (p.Gly897Cys) c.3874G>T (p.Gly1292Cys) c.3460G>T (p.Gly1154Cys) c.4066G>T (p.Gly1356Cys) c.4420G>T (p.Gly1474Cys) | |
2 | g.25742097C>G | CA346073583 | ASXL2 | c.4237G>C (p.Gly1413Arg) c.4240G>C (p.Gly1414Arg) c.4156G>C (p.Gly1386Arg) c.2689G>C (p.Gly897Arg) c.3874G>C (p.Gly1292Arg) c.3460G>C (p.Gly1154Arg) c.4066G>C (p.Gly1356Arg) c.4420G>C (p.Gly1474Arg) | |
2 | g.25742097C>T | CA346073584 | ASXL2 | c.4237G>A (p.Gly1413Ser) c.4240G>A (p.Gly1414Ser) c.4156G>A (p.Gly1386Ser) c.2689G>A (p.Gly897Ser) c.3874G>A (p.Gly1292Ser) c.3460G>A (p.Gly1154Ser) c.4066G>A (p.Gly1356Ser) c.4420G>A (p.Gly1474Ser) | |
2 | g.25742098A>C | CA346073586 | ASXL2 | c.4236T>G (p.Cys1412Trp) c.4239T>G (p.Cys1413Trp) c.4155T>G (p.Cys1385Trp) c.2688T>G (p.Cys896Trp) c.3873T>G (p.Cys1291Trp) c.3459T>G (p.Cys1153Trp) c.4065T>G (p.Cys1355Trp) c.4419T>G (p.Cys1473Trp) | |
2 | g.25742098A>G | CA425181283 | ASXL2 | c.4236T>C (p.Cys1412=) c.4239T>C (p.Cys1413=) c.4155T>C (p.Cys1385=) c.2688T>C (p.Cys896=) c.3873T>C (p.Cys1291=) c.3459T>C (p.Cys1153=) c.4065T>C (p.Cys1355=) c.4419T>C (p.Cys1473=) | |
2 | g.25742098A>T | CA346073587 | ASXL2 | c.4236T>A (p.Cys1412Ter) c.4239T>A (p.Cys1413Ter) c.4155T>A (p.Cys1385Ter) c.2688T>A (p.Cys896Ter) c.3873T>A (p.Cys1291Ter) c.3459T>A (p.Cys1153Ter) c.4065T>A (p.Cys1355Ter) c.4419T>A (p.Cys1473Ter) | |
2 | g.25742099C>A | CA346073588 | ASXL2 | c.4235G>T (p.Cys1412Phe) c.4238G>T (p.Cys1413Phe) c.4154G>T (p.Cys1385Phe) c.2687G>T (p.Cys896Phe) c.3872G>T (p.Cys1291Phe) c.3458G>T (p.Cys1153Phe) c.4064G>T (p.Cys1355Phe) c.4418G>T (p.Cys1473Phe) | |
2 | g.25742099C>G | CA346073589 | ASXL2 | c.4235G>C (p.Cys1412Ser) c.4238G>C (p.Cys1413Ser) c.4154G>C (p.Cys1385Ser) c.2687G>C (p.Cys896Ser) c.3872G>C (p.Cys1291Ser) c.3458G>C (p.Cys1153Ser) c.4064G>C (p.Cys1355Ser) c.4418G>C (p.Cys1473Ser) | |
2 | g.25742099C>T | CA346073590 | ASXL2 | c.4235G>A (p.Cys1412Tyr) c.4238G>A (p.Cys1413Tyr) c.4154G>A (p.Cys1385Tyr) c.2687G>A (p.Cys896Tyr) c.3872G>A (p.Cys1291Tyr) c.3458G>A (p.Cys1153Tyr) c.4064G>A (p.Cys1355Tyr) c.4418G>A (p.Cys1473Tyr) | |
2 | g.25742100A>C | CA346073591 | ASXL2 | c.4234T>G (p.Cys1412Gly) c.4237T>G (p.Cys1413Gly) c.4153T>G (p.Cys1385Gly) c.2686T>G (p.Cys896Gly) c.3871T>G (p.Cys1291Gly) c.3457T>G (p.Cys1153Gly) c.4063T>G (p.Cys1355Gly) c.4417T>G (p.Cys1473Gly) | |
2 | g.25742100A>G | CA346073592 | ASXL2 | c.4234T>C (p.Cys1412Arg) c.4237T>C (p.Cys1413Arg) c.4153T>C (p.Cys1385Arg) c.2686T>C (p.Cys896Arg) c.3871T>C (p.Cys1291Arg) c.3457T>C (p.Cys1153Arg) c.4063T>C (p.Cys1355Arg) c.4417T>C (p.Cys1473Arg) | |
2 | g.25742100A>T | CA346073593 | ASXL2 | c.4234T>A (p.Cys1412Ser) c.4237T>A (p.Cys1413Ser) c.4153T>A (p.Cys1385Ser) c.2686T>A (p.Cys896Ser) c.3871T>A (p.Cys1291Ser) c.3457T>A (p.Cys1153Ser) c.4063T>A (p.Cys1355Ser) c.4417T>A (p.Cys1473Ser) | |
2 | g.25742101G>A | CA425181284 | ASXL2 | c.4233C>T (p.Gly1411=) c.4236C>T (p.Gly1412=) c.4152C>T (p.Gly1384=) c.2685C>T (p.Gly895=) c.3870C>T (p.Gly1290=) c.3456C>T (p.Gly1152=) c.4062C>T (p.Gly1354=) c.4416C>T (p.Gly1472=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25742101G>C | CA425181285 | ASXL2 | c.4233C>G (p.Gly1411=) c.4236C>G (p.Gly1412=) c.4152C>G (p.Gly1384=) c.2685C>G (p.Gly895=) c.3870C>G (p.Gly1290=) c.3456C>G (p.Gly1152=) c.4062C>G (p.Gly1354=) c.4416C>G (p.Gly1472=) | |
2 | g.25742101G= | CA1239490326 | ASXL2 | c.4233C= (p.Gly1411=) c.4236C= (p.Gly1412=) c.4152C= (p.Gly1384=) c.2685C= (p.Gly895=) c.3870C= (p.Gly1290=) c.3456C= (p.Gly1152=) c.4062C= (p.Gly1354=) c.4416C= (p.Gly1472=) | |
2 | g.25742101G>T | CA425181286 | ASXL2 | c.4233C>A (p.Gly1411=) c.4236C>A (p.Gly1412=) c.4152C>A (p.Gly1384=) c.2685C>A (p.Gly895=) c.3870C>A (p.Gly1290=) c.3456C>A (p.Gly1152=) c.4062C>A (p.Gly1354=) c.4416C>A (p.Gly1472=) | |
2 | g.25742102C>A | CA346073594 | ASXL2 | c.4232G>T (p.Gly1411Val) c.4235G>T (p.Gly1412Val) c.4151G>T (p.Gly1384Val) c.2684G>T (p.Gly895Val) c.3869G>T (p.Gly1290Val) c.3455G>T (p.Gly1152Val) c.4061G>T (p.Gly1354Val) c.4415G>T (p.Gly1472Val) | |
2 | g.25742102C>G | CA346073595 | ASXL2 | c.4232G>C (p.Gly1411Ala) c.4235G>C (p.Gly1412Ala) c.4151G>C (p.Gly1384Ala) c.2684G>C (p.Gly895Ala) c.3869G>C (p.Gly1290Ala) c.3455G>C (p.Gly1152Ala) c.4061G>C (p.Gly1354Ala) c.4415G>C (p.Gly1472Ala) | |
2 | g.25742102C>T | CA346073596 | ASXL2 | c.4232G>A (p.Gly1411Asp) c.4235G>A (p.Gly1412Asp) c.4151G>A (p.Gly1384Asp) c.2684G>A (p.Gly895Asp) c.3869G>A (p.Gly1290Asp) c.3455G>A (p.Gly1152Asp) c.4061G>A (p.Gly1354Asp) c.4415G>A (p.Gly1472Asp) | |
2 | g.25742103C>A | CA346073599 | ASXL2 | c.4231G>T (p.Gly1411Cys) c.4234G>T (p.Gly1412Cys) c.4150G>T (p.Gly1384Cys) c.2683G>T (p.Gly895Cys) c.3868G>T (p.Gly1290Cys) c.3454G>T (p.Gly1152Cys) c.4060G>T (p.Gly1354Cys) c.4414G>T (p.Gly1472Cys) | |
2 | g.25742103C= | CA1239490327 | ASXL2 | c.4231G= (p.Gly1411=) c.4234G= (p.Gly1412=) c.4150G= (p.Gly1384=) c.2683G= (p.Gly895=) c.3868G= (p.Gly1290=) c.3454G= (p.Gly1152=) c.4060G= (p.Gly1354=) c.4414G= (p.Gly1472=) | |
2 | g.25742103C>G | CA346073597 | ASXL2 | c.4231G>C (p.Gly1411Arg) c.4234G>C (p.Gly1412Arg) c.4150G>C (p.Gly1384Arg) c.2683G>C (p.Gly895Arg) c.3868G>C (p.Gly1290Arg) c.3454G>C (p.Gly1152Arg) c.4060G>C (p.Gly1354Arg) c.4414G>C (p.Gly1472Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.25742103C>T | CA346073598 | ASXL2 | c.4231G>A (p.Gly1411Ser) c.4234G>A (p.Gly1412Ser) c.4150G>A (p.Gly1384Ser) c.2683G>A (p.Gly895Ser) c.3868G>A (p.Gly1290Ser) c.3454G>A (p.Gly1152Ser) c.4060G>A (p.Gly1354Ser) c.4414G>A (p.Gly1472Ser) | COSMIC COSMIC |
2 | g.25742104T>A | CA346073600 | ASXL2 | c.4230A>T (p.Lys1410Asn) c.4233A>T (p.Lys1411Asn) c.4149A>T (p.Lys1383Asn) c.2682A>T (p.Lys894Asn) c.3867A>T (p.Lys1289Asn) c.3453A>T (p.Lys1151Asn) c.4059A>T (p.Lys1353Asn) c.4413A>T (p.Lys1471Asn) | |
2 | g.25742104T>C | CA425181292 | ASXL2 | c.4230A>G (p.Lys1410=) c.4233A>G (p.Lys1411=) c.4149A>G (p.Lys1383=) c.2682A>G (p.Lys894=) c.3867A>G (p.Lys1289=) c.3453A>G (p.Lys1151=) c.4059A>G (p.Lys1353=) c.4413A>G (p.Lys1471=) | |
2 | g.25742104T>G | CA346073601 | ASXL2 | c.4230A>C (p.Lys1410Asn) c.4233A>C (p.Lys1411Asn) c.4149A>C (p.Lys1383Asn) c.2682A>C (p.Lys894Asn) c.3867A>C (p.Lys1289Asn) c.3453A>C (p.Lys1151Asn) c.4059A>C (p.Lys1353Asn) c.4413A>C (p.Lys1471Asn) | |
2 | g.25742105T>A | CA346073602 | ASXL2 | c.4229A>T (p.Lys1410Ile) c.4232A>T (p.Lys1411Ile) c.4148A>T (p.Lys1383Ile) c.2681A>T (p.Lys894Ile) c.3866A>T (p.Lys1289Ile) c.3452A>T (p.Lys1151Ile) c.4058A>T (p.Lys1353Ile) c.4412A>T (p.Lys1471Ile) | ClinVar |
2 | g.25742105T>C | CA346073603 | ASXL2 | c.4229A>G (p.Lys1410Arg) c.4232A>G (p.Lys1411Arg) c.4148A>G (p.Lys1383Arg) c.2681A>G (p.Lys894Arg) c.3866A>G (p.Lys1289Arg) c.3452A>G (p.Lys1151Arg) c.4058A>G (p.Lys1353Arg) c.4412A>G (p.Lys1471Arg) | ClinVar gnomAD v4 |
2 | g.25742105T>G | CA346073604 | ASXL2 | c.4229A>C (p.Lys1410Thr) c.4232A>C (p.Lys1411Thr) c.4148A>C (p.Lys1383Thr) c.2681A>C (p.Lys894Thr) c.3866A>C (p.Lys1289Thr) c.3452A>C (p.Lys1151Thr) c.4058A>C (p.Lys1353Thr) c.4412A>C (p.Lys1471Thr) | |
2 | g.25742106T>A | CA346073605 | ASXL2 | c.4228A>T (p.Lys1410Ter) c.4231A>T (p.Lys1411Ter) c.4147A>T (p.Lys1383Ter) c.2680A>T (p.Lys894Ter) c.3865A>T (p.Lys1289Ter) c.3451A>T (p.Lys1151Ter) c.4057A>T (p.Lys1353Ter) c.4411A>T (p.Lys1471Ter) | |
2 | g.25742106T>C | CA346073606 | ASXL2 | c.4228A>G (p.Lys1410Glu) c.4231A>G (p.Lys1411Glu) c.4147A>G (p.Lys1383Glu) c.2680A>G (p.Lys894Glu) c.3865A>G (p.Lys1289Glu) c.3451A>G (p.Lys1151Glu) c.4057A>G (p.Lys1353Glu) c.4411A>G (p.Lys1471Glu) | |
2 | g.25742106T>G | CA346073607 | ASXL2 | c.4228A>C (p.Lys1410Gln) c.4231A>C (p.Lys1411Gln) c.4147A>C (p.Lys1383Gln) c.2680A>C (p.Lys894Gln) c.3865A>C (p.Lys1289Gln) c.3451A>C (p.Lys1151Gln) c.4057A>C (p.Lys1353Gln) c.4411A>C (p.Lys1471Gln) | |
2 | g.25742107G>A | CA425181294 | ASXL2 | c.4227C>T (p.Cys1409=) c.4230C>T (p.Cys1410=) c.4146C>T (p.Cys1382=) c.2679C>T (p.Cys893=) c.3864C>T (p.Cys1288=) c.3450C>T (p.Cys1150=) c.4056C>T (p.Cys1352=) c.4410C>T (p.Cys1470=) | |
2 | g.25742107G>C | CA346073608 | ASXL2 | c.4227C>G (p.Cys1409Trp) c.4230C>G (p.Cys1410Trp) c.4146C>G (p.Cys1382Trp) c.2679C>G (p.Cys893Trp) c.3864C>G (p.Cys1288Trp) c.3450C>G (p.Cys1150Trp) c.4056C>G (p.Cys1352Trp) c.4410C>G (p.Cys1470Trp) | |
2 | g.25742107G>T | CA346073609 | ASXL2 | c.4227C>A (p.Cys1409Ter) c.4230C>A (p.Cys1410Ter) c.4146C>A (p.Cys1382Ter) c.2679C>A (p.Cys893Ter) c.3864C>A (p.Cys1288Ter) c.3450C>A (p.Cys1150Ter) c.4056C>A (p.Cys1352Ter) c.4410C>A (p.Cys1470Ter) | COSMIC COSMIC |
2 | g.25742108C>A | CA346073610 | ASXL2 | c.4226G>T (p.Cys1409Phe) c.4229G>T (p.Cys1410Phe) c.4145G>T (p.Cys1382Phe) c.2678G>T (p.Cys893Phe) c.3863G>T (p.Cys1288Phe) c.3449G>T (p.Cys1150Phe) c.4055G>T (p.Cys1352Phe) c.4409G>T (p.Cys1470Phe) | |
2 | g.25742108C>G | CA346073611 | ASXL2 | c.4226G>C (p.Cys1409Ser) c.4229G>C (p.Cys1410Ser) c.4145G>C (p.Cys1382Ser) c.2678G>C (p.Cys893Ser) c.3863G>C (p.Cys1288Ser) c.3449G>C (p.Cys1150Ser) c.4055G>C (p.Cys1352Ser) c.4409G>C (p.Cys1470Ser) | |
2 | g.25742108C>T | CA346073612 | ASXL2 | c.4226G>A (p.Cys1409Tyr) c.4229G>A (p.Cys1410Tyr) c.4145G>A (p.Cys1382Tyr) c.2678G>A (p.Cys893Tyr) c.3863G>A (p.Cys1288Tyr) c.3449G>A (p.Cys1150Tyr) c.4055G>A (p.Cys1352Tyr) c.4409G>A (p.Cys1470Tyr) | |
2 | g.25742109A= | CA1239490328 | ASXL2 | c.4225T= (p.Cys1409=) c.4228T= (p.Cys1410=) c.4144T= (p.Cys1382=) c.2677T= (p.Cys893=) c.3862T= (p.Cys1288=) c.3448T= (p.Cys1150=) c.4054T= (p.Cys1352=) c.4408T= (p.Cys1470=) | |
2 | g.25742109A>C | CA346073615 | ASXL2 | c.4225T>G (p.Cys1409Gly) c.4228T>G (p.Cys1410Gly) c.4144T>G (p.Cys1382Gly) c.2677T>G (p.Cys893Gly) c.3862T>G (p.Cys1288Gly) c.3448T>G (p.Cys1150Gly) c.4054T>G (p.Cys1352Gly) c.4408T>G (p.Cys1470Gly) | ClinVar dbSNP |
2 | g.25742109A>G | CA346073614 | ASXL2 | c.4225T>C (p.Cys1409Arg) c.4228T>C (p.Cys1410Arg) c.4144T>C (p.Cys1382Arg) c.2677T>C (p.Cys893Arg) c.3862T>C (p.Cys1288Arg) c.3448T>C (p.Cys1150Arg) c.4054T>C (p.Cys1352Arg) c.4408T>C (p.Cys1470Arg) | |
2 | g.25742109A>T | CA346073613 | ASXL2 | c.4225T>A (p.Cys1409Ser) c.4228T>A (p.Cys1410Ser) c.4144T>A (p.Cys1382Ser) c.2677T>A (p.Cys893Ser) c.3862T>A (p.Cys1288Ser) c.3448T>A (p.Cys1150Ser) c.4054T>A (p.Cys1352Ser) c.4408T>A (p.Cys1470Ser) | COSMIC COSMIC |
2 | g.25742110C>A | CA43734143 | ASXL2 | c.4224G>T (p.Met1408Ile) c.4227G>T (p.Met1409Ile) c.4143G>T (p.Met1381Ile) c.2676G>T (p.Met892Ile) c.3861G>T (p.Met1287Ile) c.3447G>T (p.Met1149Ile) c.4053G>T (p.Met1351Ile) c.4407G>T (p.Met1469Ile) | dbSNP |
2 | g.25742110C= | CA1239490329 | ASXL2 | c.4224G= (p.Met1408=) c.4227G= (p.Met1409=) c.4143G= (p.Met1381=) c.2676G= (p.Met892=) c.3861G= (p.Met1287=) c.3447G= (p.Met1149=) c.4053G= (p.Met1351=) c.4407G= (p.Met1469=) | |
2 | g.25742110C>G | CA346073617 | ASXL2 | c.4224G>C (p.Met1408Ile) c.4227G>C (p.Met1409Ile) c.4143G>C (p.Met1381Ile) c.2676G>C (p.Met892Ile) c.3861G>C (p.Met1287Ile) c.3447G>C (p.Met1149Ile) c.4053G>C (p.Met1351Ile) c.4407G>C (p.Met1469Ile) | |
2 | g.25742110C>T | CA346073616 | ASXL2 | c.4224G>A (p.Met1408Ile) c.4227G>A (p.Met1409Ile) c.4143G>A (p.Met1381Ile) c.2676G>A (p.Met892Ile) c.3861G>A (p.Met1287Ile) c.3447G>A (p.Met1149Ile) c.4053G>A (p.Met1351Ile) c.4407G>A (p.Met1469Ile) | |
2 | g.25742111A= | CA1239490330 | ASXL2 | c.4223T= (p.Met1408=) c.4226T= (p.Met1409=) c.4142T= (p.Met1381=) c.2675T= (p.Met892=) c.3860T= (p.Met1287=) c.3446T= (p.Met1149=) c.4052T= (p.Met1351=) c.4406T= (p.Met1469=) | |
2 | g.25742111A>C | CA346073618 | ASXL2 | c.4223T>G (p.Met1408Arg) c.4226T>G (p.Met1409Arg) c.4142T>G (p.Met1381Arg) c.2675T>G (p.Met892Arg) c.3860T>G (p.Met1287Arg) c.3446T>G (p.Met1149Arg) c.4052T>G (p.Met1351Arg) c.4406T>G (p.Met1469Arg) | |
2 | g.25742111A>G | CA346073619 | ASXL2 | c.4223T>C (p.Met1408Thr) c.4226T>C (p.Met1409Thr) c.4142T>C (p.Met1381Thr) c.2675T>C (p.Met892Thr) c.3860T>C (p.Met1287Thr) c.3446T>C (p.Met1149Thr) c.4052T>C (p.Met1351Thr) c.4406T>C (p.Met1469Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25742111A>T | CA346073620 | ASXL2 | c.4223T>A (p.Met1408Lys) c.4226T>A (p.Met1409Lys) c.4142T>A (p.Met1381Lys) c.2675T>A (p.Met892Lys) c.3860T>A (p.Met1287Lys) c.3446T>A (p.Met1149Lys) c.4052T>A (p.Met1351Lys) c.4406T>A (p.Met1469Lys) | |
2 | g.25742112T>A | CA346073621 | ASXL2 | c.4222A>T (p.Met1408Leu) c.4225A>T (p.Met1409Leu) c.4141A>T (p.Met1381Leu) c.2674A>T (p.Met892Leu) c.3859A>T (p.Met1287Leu) c.3445A>T (p.Met1149Leu) c.4051A>T (p.Met1351Leu) c.4405A>T (p.Met1469Leu) | |
2 | g.25742112T>C | CA346073622 | ASXL2 | c.4222A>G (p.Met1408Val) c.4225A>G (p.Met1409Val) c.4141A>G (p.Met1381Val) c.2674A>G (p.Met892Val) c.3859A>G (p.Met1287Val) c.3445A>G (p.Met1149Val) c.4051A>G (p.Met1351Val) c.4405A>G (p.Met1469Val) | |
2 | g.25742112T>G | CA346073623 | ASXL2 | c.4222A>C (p.Met1408Leu) c.4225A>C (p.Met1409Leu) c.4141A>C (p.Met1381Leu) c.2674A>C (p.Met892Leu) c.3859A>C (p.Met1287Leu) c.3445A>C (p.Met1149Leu) c.4051A>C (p.Met1351Leu) c.4405A>C (p.Met1469Leu) | gnomAD v4 |
2 | g.25742113G>A | CA425181297 | ASXL2 | c.4221C>T (p.Ile1407=) c.4224C>T (p.Ile1408=) c.4140C>T (p.Ile1380=) c.2673C>T (p.Ile891=) c.3858C>T (p.Ile1286=) c.3444C>T (p.Ile1148=) c.4050C>T (p.Ile1350=) c.4404C>T (p.Ile1468=) | |
2 | g.25742113G>C | CA346073624 | ASXL2 | c.4221C>G (p.Ile1407Met) c.4224C>G (p.Ile1408Met) c.4140C>G (p.Ile1380Met) c.2673C>G (p.Ile891Met) c.3858C>G (p.Ile1286Met) c.3444C>G (p.Ile1148Met) c.4050C>G (p.Ile1350Met) c.4404C>G (p.Ile1468Met) | ClinVar gnomAD v4 |
2 | g.25742113G= | CA1239490331 | ASXL2 | c.4221C= (p.Ile1407=) c.4224C= (p.Ile1408=) c.4140C= (p.Ile1380=) c.2673C= (p.Ile891=) c.3858C= (p.Ile1286=) c.3444C= (p.Ile1148=) c.4050C= (p.Ile1350=) c.4404C= (p.Ile1468=) | |
2 | g.25742113G>T | CA1557332 | ASXL2 | c.4221C>A (p.Ile1407=) c.4224C>A (p.Ile1408=) c.4140C>A (p.Ile1380=) c.2673C>A (p.Ile891=) c.3858C>A (p.Ile1286=) c.3444C>A (p.Ile1148=) c.4050C>A (p.Ile1350=) c.4404C>A (p.Ile1468=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25742114A>C | CA346073625 | ASXL2 | c.4220T>G (p.Ile1407Ser) c.4223T>G (p.Ile1408Ser) c.4139T>G (p.Ile1380Ser) c.2672T>G (p.Ile891Ser) c.3857T>G (p.Ile1286Ser) c.3443T>G (p.Ile1148Ser) c.4049T>G (p.Ile1350Ser) c.4403T>G (p.Ile1468Ser) | |
2 | g.25742114A>G | CA346073626 | ASXL2 | c.4220T>C (p.Ile1407Thr) c.4223T>C (p.Ile1408Thr) c.4139T>C (p.Ile1380Thr) c.2672T>C (p.Ile891Thr) c.3857T>C (p.Ile1286Thr) c.3443T>C (p.Ile1148Thr) c.4049T>C (p.Ile1350Thr) c.4403T>C (p.Ile1468Thr) | |
2 | g.25742114A>T | CA346073627 | ASXL2 | c.4220T>A (p.Ile1407Asn) c.4223T>A (p.Ile1408Asn) c.4139T>A (p.Ile1380Asn) c.2672T>A (p.Ile891Asn) c.3857T>A (p.Ile1286Asn) c.3443T>A (p.Ile1148Asn) c.4049T>A (p.Ile1350Asn) c.4403T>A (p.Ile1468Asn) | |
2 | g.25742115T>A | CA346073630 | ASXL2 | c.4219A>T (p.Ile1407Phe) c.4222A>T (p.Ile1408Phe) c.4138A>T (p.Ile1380Phe) c.2671A>T (p.Ile891Phe) c.3856A>T (p.Ile1286Phe) c.3442A>T (p.Ile1148Phe) c.4048A>T (p.Ile1350Phe) c.4402A>T (p.Ile1468Phe) | |
2 | g.25742115T>C | CA346073629 | ASXL2 | c.4219A>G (p.Ile1407Val) c.4222A>G (p.Ile1408Val) c.4138A>G (p.Ile1380Val) c.2671A>G (p.Ile891Val) c.3856A>G (p.Ile1286Val) c.3442A>G (p.Ile1148Val) c.4048A>G (p.Ile1350Val) c.4402A>G (p.Ile1468Val) | |
2 | g.25742115T>G | CA346073628 | ASXL2 | c.4219A>C (p.Ile1407Leu) c.4222A>C (p.Ile1408Leu) c.4138A>C (p.Ile1380Leu) c.2671A>C (p.Ile891Leu) c.3856A>C (p.Ile1286Leu) c.3442A>C (p.Ile1148Leu) c.4048A>C (p.Ile1350Leu) c.4402A>C (p.Ile1468Leu) | |
2 | g.25742116C>A | CA346073631 | ASXL2 | c.4218G>T (p.Met1406Ile) c.4221G>T (p.Met1407Ile) c.4137G>T (p.Met1379Ile) c.2670G>T (p.Met890Ile) c.3855G>T (p.Met1285Ile) c.3441G>T (p.Met1147Ile) c.4047G>T (p.Met1349Ile) c.4401G>T (p.Met1467Ile) | |
2 | g.25742116C>G | CA346073632 | ASXL2 | c.4218G>C (p.Met1406Ile) c.4221G>C (p.Met1407Ile) c.4137G>C (p.Met1379Ile) c.2670G>C (p.Met890Ile) c.3855G>C (p.Met1285Ile) c.3441G>C (p.Met1147Ile) c.4047G>C (p.Met1349Ile) c.4401G>C (p.Met1467Ile) | |
2 | g.25742116C>T | CA346073633 | ASXL2 | c.4218G>A (p.Met1406Ile) c.4221G>A (p.Met1407Ile) c.4137G>A (p.Met1379Ile) c.2670G>A (p.Met890Ile) c.3855G>A (p.Met1285Ile) c.3441G>A (p.Met1147Ile) c.4047G>A (p.Met1349Ile) c.4401G>A (p.Met1467Ile) | gnomAD v4 |
2 | g.25742117A>C | CA346073634 | ASXL2 | c.4217T>G (p.Met1406Arg) c.4220T>G (p.Met1407Arg) c.4136T>G (p.Met1379Arg) c.2669T>G (p.Met890Arg) c.3854T>G (p.Met1285Arg) c.3440T>G (p.Met1147Arg) c.4046T>G (p.Met1349Arg) c.4400T>G (p.Met1467Arg) | |
2 | g.25742117A>G | CA346073635 | ASXL2 | c.4217T>C (p.Met1406Thr) c.4220T>C (p.Met1407Thr) c.4136T>C (p.Met1379Thr) c.2669T>C (p.Met890Thr) c.3854T>C (p.Met1285Thr) c.3440T>C (p.Met1147Thr) c.4046T>C (p.Met1349Thr) c.4400T>C (p.Met1467Thr) | gnomAD v4 |
2 | g.25742117A>T | CA346073636 | ASXL2 | c.4217T>A (p.Met1406Lys) c.4220T>A (p.Met1407Lys) c.4136T>A (p.Met1379Lys) c.2669T>A (p.Met890Lys) c.3854T>A (p.Met1285Lys) c.3440T>A (p.Met1147Lys) c.4046T>A (p.Met1349Lys) c.4400T>A (p.Met1467Lys) | |
2 | g.25742118T>A | CA346073637 | ASXL2 | c.4216A>T (p.Met1406Leu) c.4219A>T (p.Met1407Leu) c.4135A>T (p.Met1379Leu) c.2668A>T (p.Met890Leu) c.3853A>T (p.Met1285Leu) c.3439A>T (p.Met1147Leu) c.4045A>T (p.Met1349Leu) c.4399A>T (p.Met1467Leu) | gnomAD v4 |
2 | g.25742118T>C | CA346073638 | ASXL2 | c.4216A>G (p.Met1406Val) c.4219A>G (p.Met1407Val) c.4135A>G (p.Met1379Val) c.2668A>G (p.Met890Val) c.3853A>G (p.Met1285Val) c.3439A>G (p.Met1147Val) c.4045A>G (p.Met1349Val) c.4399A>G (p.Met1467Val) | gnomAD v4 |
2 | g.25742118T>G | CA346073639 | ASXL2 | c.4216A>C (p.Met1406Leu) c.4219A>C (p.Met1407Leu) c.4135A>C (p.Met1379Leu) c.2668A>C (p.Met890Leu) c.3853A>C (p.Met1285Leu) c.3439A>C (p.Met1147Leu) c.4045A>C (p.Met1349Leu) c.4399A>C (p.Met1467Leu) | |
2 | g.25742119G>A | CA425181305 | ASXL2 | c.4215C>T (p.Ala1405=) c.4218C>T (p.Ala1406=) c.4134C>T (p.Ala1378=) c.2667C>T (p.Ala889=) c.3852C>T (p.Ala1284=) c.3438C>T (p.Ala1146=) c.4044C>T (p.Ala1348=) c.4398C>T (p.Ala1466=) | |
2 | g.25742119G>C | CA425181306 | ASXL2 | c.4215C>G (p.Ala1405=) c.4218C>G (p.Ala1406=) c.4134C>G (p.Ala1378=) c.2667C>G (p.Ala889=) c.3852C>G (p.Ala1284=) c.3438C>G (p.Ala1146=) c.4044C>G (p.Ala1348=) c.4398C>G (p.Ala1466=) | |
2 | g.25742119G>T | CA425181307 | ASXL2 | c.4215C>A (p.Ala1405=) c.4218C>A (p.Ala1406=) c.4134C>A (p.Ala1378=) c.2667C>A (p.Ala889=) c.3852C>A (p.Ala1284=) c.3438C>A (p.Ala1146=) c.4044C>A (p.Ala1348=) c.4398C>A (p.Ala1466=) | |
2 | g.25742120G>A | CA1557333 | ASXL2 | c.4214C>T (p.Ala1405Val) c.4217C>T (p.Ala1406Val) c.4133C>T (p.Ala1378Val) c.2666C>T (p.Ala889Val) c.3851C>T (p.Ala1284Val) c.3437C>T (p.Ala1146Val) c.4043C>T (p.Ala1348Val) c.4397C>T (p.Ala1466Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25742120G>C | CA346073640 | ASXL2 | c.4214C>G (p.Ala1405Gly) c.4217C>G (p.Ala1406Gly) c.4133C>G (p.Ala1378Gly) c.2666C>G (p.Ala889Gly) c.3851C>G (p.Ala1284Gly) c.3437C>G (p.Ala1146Gly) c.4043C>G (p.Ala1348Gly) c.4397C>G (p.Ala1466Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25742120G= | CA1239490332 | ASXL2 | c.4214C= (p.Ala1405=) c.4217C= (p.Ala1406=) c.4133C= (p.Ala1378=) c.2666C= (p.Ala889=) c.3851C= (p.Ala1284=) c.3437C= (p.Ala1146=) c.4043C= (p.Ala1348=) c.4397C= (p.Ala1466=) | |
2 | g.25742120G>T | CA346073641 | ASXL2 | c.4214C>A (p.Ala1405Asp) c.4217C>A (p.Ala1406Asp) c.4133C>A (p.Ala1378Asp) c.2666C>A (p.Ala889Asp) c.3851C>A (p.Ala1284Asp) c.3437C>A (p.Ala1146Asp) c.4043C>A (p.Ala1348Asp) c.4397C>A (p.Ala1466Asp) | |
2 | g.25742121C>A | CA346073644 | ASXL2 | c.4213G>T (p.Ala1405Ser) c.4216G>T (p.Ala1406Ser) c.4132G>T (p.Ala1378Ser) c.2665G>T (p.Ala889Ser) c.3850G>T (p.Ala1284Ser) c.3436G>T (p.Ala1146Ser) c.4042G>T (p.Ala1348Ser) c.4396G>T (p.Ala1466Ser) | |
2 | g.25742121C>G | CA346073643 | ASXL2 | c.4213G>C (p.Ala1405Pro) c.4216G>C (p.Ala1406Pro) c.4132G>C (p.Ala1378Pro) c.2665G>C (p.Ala889Pro) c.3850G>C (p.Ala1284Pro) c.3436G>C (p.Ala1146Pro) c.4042G>C (p.Ala1348Pro) c.4396G>C (p.Ala1466Pro) | |
2 | g.25742121C>T | CA346073642 | ASXL2 | c.4213G>A (p.Ala1405Thr) c.4216G>A (p.Ala1406Thr) c.4132G>A (p.Ala1378Thr) c.2665G>A (p.Ala889Thr) c.3850G>A (p.Ala1284Thr) c.3436G>A (p.Ala1146Thr) c.4042G>A (p.Ala1348Thr) c.4396G>A (p.Ala1466Thr) | |
2 | g.25742122T>A | CA346073646 | ASXL2 | c.4212A>T (p.Lys1404Asn) c.4215A>T (p.Lys1405Asn) c.4131A>T (p.Lys1377Asn) c.2664A>T (p.Lys888Asn) c.3849A>T (p.Lys1283Asn) c.3435A>T (p.Lys1145Asn) c.4041A>T (p.Lys1347Asn) c.4395A>T (p.Lys1465Asn) | |
2 | g.25742122T>C | CA425181309 | ASXL2 | c.4212A>G (p.Lys1404=) c.4215A>G (p.Lys1405=) c.4131A>G (p.Lys1377=) c.2664A>G (p.Lys888=) c.3849A>G (p.Lys1283=) c.3435A>G (p.Lys1145=) c.4041A>G (p.Lys1347=) c.4395A>G (p.Lys1465=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25742122T>G | CA346073645 | ASXL2 | c.4212A>C (p.Lys1404Asn) c.4215A>C (p.Lys1405Asn) c.4131A>C (p.Lys1377Asn) c.2664A>C (p.Lys888Asn) c.3849A>C (p.Lys1283Asn) c.3435A>C (p.Lys1145Asn) c.4041A>C (p.Lys1347Asn) c.4395A>C (p.Lys1465Asn) | |
2 | g.25742122T= | CA1239490333 | ASXL2 | c.4212A= (p.Lys1404=) c.4215A= (p.Lys1405=) c.4131A= (p.Lys1377=) c.2664A= (p.Lys888=) c.3849A= (p.Lys1283=) c.3435A= (p.Lys1145=) c.4041A= (p.Lys1347=) c.4395A= (p.Lys1465=) | |
2 | g.25742123T>A | CA346073647 | ASXL2 | c.4211A>T (p.Lys1404Ile) c.4214A>T (p.Lys1405Ile) c.4130A>T (p.Lys1377Ile) c.2663A>T (p.Lys888Ile) c.3848A>T (p.Lys1283Ile) c.3434A>T (p.Lys1145Ile) c.4040A>T (p.Lys1347Ile) c.4394A>T (p.Lys1465Ile) | |
2 | g.25742123T>C | CA346073648 | ASXL2 | c.4211A>G (p.Lys1404Arg) c.4214A>G (p.Lys1405Arg) c.4130A>G (p.Lys1377Arg) c.2663A>G (p.Lys888Arg) c.3848A>G (p.Lys1283Arg) c.3434A>G (p.Lys1145Arg) c.4040A>G (p.Lys1347Arg) c.4394A>G (p.Lys1465Arg) | gnomAD v4 |
2 | g.25742123T>G | CA346073649 | ASXL2 | c.4211A>C (p.Lys1404Thr) c.4214A>C (p.Lys1405Thr) c.4130A>C (p.Lys1377Thr) c.2663A>C (p.Lys888Thr) c.3848A>C (p.Lys1283Thr) c.3434A>C (p.Lys1145Thr) c.4040A>C (p.Lys1347Thr) c.4394A>C (p.Lys1465Thr) | |
2 | g.25742124T>A | CA346073650 | ASXL2 | c.4210A>T (p.Lys1404Ter) c.4213A>T (p.Lys1405Ter) c.4129A>T (p.Lys1377Ter) c.2662A>T (p.Lys888Ter) c.3847A>T (p.Lys1283Ter) c.3433A>T (p.Lys1145Ter) c.4039A>T (p.Lys1347Ter) c.4393A>T (p.Lys1465Ter) | |
2 | g.25742124T>C | CA346073651 | ASXL2 | c.4210A>G (p.Lys1404Glu) c.4213A>G (p.Lys1405Glu) c.4129A>G (p.Lys1377Glu) c.2662A>G (p.Lys888Glu) c.3847A>G (p.Lys1283Glu) c.3433A>G (p.Lys1145Glu) c.4039A>G (p.Lys1347Glu) c.4393A>G (p.Lys1465Glu) | |
2 | g.25742124T>G | CA346073652 | ASXL2 | c.4210A>C (p.Lys1404Gln) c.4213A>C (p.Lys1405Gln) c.4129A>C (p.Lys1377Gln) c.2662A>C (p.Lys888Gln) c.3847A>C (p.Lys1283Gln) c.3433A>C (p.Lys1145Gln) c.4039A>C (p.Lys1347Gln) c.4393A>C (p.Lys1465Gln) | |
2 | g.25742125C>A | CA346073653 | ASXL2 | c.4209G>T (p.Leu1403Phe) c.4212G>T (p.Leu1404Phe) c.4128G>T (p.Leu1376Phe) c.2661G>T (p.Leu887Phe) c.3846G>T (p.Leu1282Phe) c.3432G>T (p.Leu1144Phe) c.4038G>T (p.Leu1346Phe) c.4392G>T (p.Leu1464Phe) | |
2 | g.25742125C>G | CA346073654 | ASXL2 | c.4209G>C (p.Leu1403Phe) c.4212G>C (p.Leu1404Phe) c.4128G>C (p.Leu1376Phe) c.2661G>C (p.Leu887Phe) c.3846G>C (p.Leu1282Phe) c.3432G>C (p.Leu1144Phe) c.4038G>C (p.Leu1346Phe) c.4392G>C (p.Leu1464Phe) | |
2 | g.25742125C>T | CA425181312 | ASXL2 | c.4209G>A (p.Leu1403=) c.4212G>A (p.Leu1404=) c.4128G>A (p.Leu1376=) c.2661G>A (p.Leu887=) c.3846G>A (p.Leu1282=) c.3432G>A (p.Leu1144=) c.4038G>A (p.Leu1346=) c.4392G>A (p.Leu1464=) | |
2 | g.25742126A>C | CA346073655 | ASXL2 | c.4208T>G (p.Leu1403Trp) c.4211T>G (p.Leu1404Trp) c.4127T>G (p.Leu1376Trp) c.2660T>G (p.Leu887Trp) c.3845T>G (p.Leu1282Trp) c.3431T>G (p.Leu1144Trp) c.4037T>G (p.Leu1346Trp) c.4391T>G (p.Leu1464Trp) | |
2 | g.25742126A>G | CA346073656 | ASXL2 | c.4208T>C (p.Leu1403Ser) c.4211T>C (p.Leu1404Ser) c.4127T>C (p.Leu1376Ser) c.2660T>C (p.Leu887Ser) c.3845T>C (p.Leu1282Ser) c.3431T>C (p.Leu1144Ser) c.4037T>C (p.Leu1346Ser) c.4391T>C (p.Leu1464Ser) | |
2 | g.25742126A>T | CA346073657 | ASXL2 | c.4208T>A (p.Leu1403Ter) c.4211T>A (p.Leu1404Ter) c.4127T>A (p.Leu1376Ter) c.2660T>A (p.Leu887Ter) c.3845T>A (p.Leu1282Ter) c.3431T>A (p.Leu1144Ter) c.4037T>A (p.Leu1346Ter) c.4391T>A (p.Leu1464Ter) | |
2 | g.25742127A>C | CA346073658 | ASXL2 | c.4207T>G (p.Leu1403Val) c.4210T>G (p.Leu1404Val) c.4126T>G (p.Leu1376Val) c.2659T>G (p.Leu887Val) c.3844T>G (p.Leu1282Val) c.3430T>G (p.Leu1144Val) c.4036T>G (p.Leu1346Val) c.4390T>G (p.Leu1464Val) | |
2 | g.25742127A>G | CA425181316 | ASXL2 | c.4207T>C (p.Leu1403=) c.4210T>C (p.Leu1404=) c.4126T>C (p.Leu1376=) c.2659T>C (p.Leu887=) c.3844T>C (p.Leu1282=) c.3430T>C (p.Leu1144=) c.4036T>C (p.Leu1346=) c.4390T>C (p.Leu1464=) | |
2 | g.25742127A>T | CA346073659 | ASXL2 | c.4207T>A (p.Leu1403Met) c.4210T>A (p.Leu1404Met) c.4126T>A (p.Leu1376Met) c.2659T>A (p.Leu887Met) c.3844T>A (p.Leu1282Met) c.3430T>A (p.Leu1144Met) c.4036T>A (p.Leu1346Met) c.4390T>A (p.Leu1464Met) | gnomAD v4 |
2 | g.25742128G>A | CA425181317 | ASXL2 | c.4206C>T (p.Arg1402=) c.4209C>T (p.Arg1403=) c.4125C>T (p.Arg1375=) c.2658C>T (p.Arg886=) c.3843C>T (p.Arg1281=) c.3429C>T (p.Arg1143=) c.4035C>T (p.Arg1345=) c.4389C>T (p.Arg1463=) | dbSNP |
2 | g.25742128G>C | CA425181318 | ASXL2 | c.4206C>G (p.Arg1402=) c.4209C>G (p.Arg1403=) c.4125C>G (p.Arg1375=) c.2658C>G (p.Arg886=) c.3843C>G (p.Arg1281=) c.3429C>G (p.Arg1143=) c.4035C>G (p.Arg1345=) c.4389C>G (p.Arg1463=) | |
2 | g.25742128G= | CA1239490334 | ASXL2 | c.4206C= (p.Arg1402=) c.4209C= (p.Arg1403=) c.4125C= (p.Arg1375=) c.2658C= (p.Arg886=) c.3843C= (p.Arg1281=) c.3429C= (p.Arg1143=) c.4035C= (p.Arg1345=) c.4389C= (p.Arg1463=) | |
2 | g.25742128G>T | CA425181320 | ASXL2 | c.4206C>A (p.Arg1402=) c.4209C>A (p.Arg1403=) c.4125C>A (p.Arg1375=) c.2658C>A (p.Arg886=) c.3843C>A (p.Arg1281=) c.3429C>A (p.Arg1143=) c.4035C>A (p.Arg1345=) c.4389C>A (p.Arg1463=) | |
2 | g.25742129C>A | CA346073660 | ASXL2 | c.4205G>T (p.Arg1402Leu) c.4208G>T (p.Arg1403Leu) c.4124G>T (p.Arg1375Leu) c.2657G>T (p.Arg886Leu) c.3842G>T (p.Arg1281Leu) c.3428G>T (p.Arg1143Leu) c.4034G>T (p.Arg1345Leu) c.4388G>T (p.Arg1463Leu) | |
2 | g.25742129C= | CA1239490335 | ASXL2 | c.4205G= (p.Arg1402=) c.4208G= (p.Arg1403=) c.4124G= (p.Arg1375=) c.2657G= (p.Arg886=) c.3842G= (p.Arg1281=) c.3428G= (p.Arg1143=) c.4034G= (p.Arg1345=) c.4388G= (p.Arg1463=) | |
2 | g.25742129C>G | CA346073661 | ASXL2 | c.4205G>C (p.Arg1402Pro) c.4208G>C (p.Arg1403Pro) c.4124G>C (p.Arg1375Pro) c.2657G>C (p.Arg886Pro) c.3842G>C (p.Arg1281Pro) c.3428G>C (p.Arg1143Pro) c.4034G>C (p.Arg1345Pro) c.4388G>C (p.Arg1463Pro) | |
2 | g.25742129C>T | CA1557334 | ASXL2 | c.4205G>A (p.Arg1402His) c.4208G>A (p.Arg1403His) c.4124G>A (p.Arg1375His) c.2657G>A (p.Arg886His) c.3842G>A (p.Arg1281His) c.3428G>A (p.Arg1143His) c.4034G>A (p.Arg1345His) c.4388G>A (p.Arg1463His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742130G>A | CA1557336 | ASXL2 | c.4204C>T (p.Arg1402Cys) c.4207C>T (p.Arg1403Cys) c.4123C>T (p.Arg1375Cys) c.2656C>T (p.Arg886Cys) c.3841C>T (p.Arg1281Cys) c.3427C>T (p.Arg1143Cys) c.4033C>T (p.Arg1345Cys) c.4387C>T (p.Arg1463Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.25742130G>C | CA43734153 | ASXL2 | c.4204C>G (p.Arg1402Gly) c.4207C>G (p.Arg1403Gly) c.4123C>G (p.Arg1375Gly) c.2656C>G (p.Arg886Gly) c.3841C>G (p.Arg1281Gly) c.3427C>G (p.Arg1143Gly) c.4033C>G (p.Arg1345Gly) c.4387C>G (p.Arg1463Gly) | dbSNP gnomAD v4 |
2 | g.25742130G= | CA1239490336 | ASXL2 | c.4204C= (p.Arg1402=) c.4207C= (p.Arg1403=) c.4123C= (p.Arg1375=) c.2656C= (p.Arg886=) c.3841C= (p.Arg1281=) c.3427C= (p.Arg1143=) c.4033C= (p.Arg1345=) c.4387C= (p.Arg1463=) | |
2 | g.25742130G>T | CA1557335 | ASXL2 | c.4204C>A (p.Arg1402Ser) c.4207C>A (p.Arg1403Ser) c.4123C>A (p.Arg1375Ser) c.2656C>A (p.Arg886Ser) c.3841C>A (p.Arg1281Ser) c.3427C>A (p.Arg1143Ser) c.4033C>A (p.Arg1345Ser) c.4387C>A (p.Arg1463Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25742131G>A | CA425181323 | ASXL2 | c.4203C>T (p.Cys1401=) c.4206C>T (p.Cys1402=) c.4122C>T (p.Cys1374=) c.2655C>T (p.Cys885=) c.3840C>T (p.Cys1280=) c.3426C>T (p.Cys1142=) c.4032C>T (p.Cys1344=) c.4386C>T (p.Cys1462=) | |
2 | g.25742131G>C | CA346073662 | ASXL2 | c.4203C>G (p.Cys1401Trp) c.4206C>G (p.Cys1402Trp) c.4122C>G (p.Cys1374Trp) c.2655C>G (p.Cys885Trp) c.3840C>G (p.Cys1280Trp) c.3426C>G (p.Cys1142Trp) c.4032C>G (p.Cys1344Trp) c.4386C>G (p.Cys1462Trp) | |
2 | g.25742131G>T | CA346073663 | ASXL2 | c.4203C>A (p.Cys1401Ter) c.4206C>A (p.Cys1402Ter) c.4122C>A (p.Cys1374Ter) c.2655C>A (p.Cys885Ter) c.3840C>A (p.Cys1280Ter) c.3426C>A (p.Cys1142Ter) c.4032C>A (p.Cys1344Ter) c.4386C>A (p.Cys1462Ter) | |
2 | g.25742132C>A | CA346073664 | ASXL2 | c.4202G>T (p.Cys1401Phe) c.4205G>T (p.Cys1402Phe) c.4121G>T (p.Cys1374Phe) c.2654G>T (p.Cys885Phe) c.3839G>T (p.Cys1280Phe) c.3425G>T (p.Cys1142Phe) c.4031G>T (p.Cys1344Phe) c.4385G>T (p.Cys1462Phe) | |
2 | g.25742132C>G | CA346073665 | ASXL2 | c.4202G>C (p.Cys1401Ser) c.4205G>C (p.Cys1402Ser) c.4121G>C (p.Cys1374Ser) c.2654G>C (p.Cys885Ser) c.3839G>C (p.Cys1280Ser) c.3425G>C (p.Cys1142Ser) c.4031G>C (p.Cys1344Ser) c.4385G>C (p.Cys1462Ser) | |
2 | g.25742132C>T | CA346073666 | ASXL2 | c.4202G>A (p.Cys1401Tyr) c.4205G>A (p.Cys1402Tyr) c.4121G>A (p.Cys1374Tyr) c.2654G>A (p.Cys885Tyr) c.3839G>A (p.Cys1280Tyr) c.3425G>A (p.Cys1142Tyr) c.4031G>A (p.Cys1344Tyr) c.4385G>A (p.Cys1462Tyr) | |
2 | g.25742133A>C | CA346073667 | ASXL2 | c.4201T>G (p.Cys1401Gly) c.4204T>G (p.Cys1402Gly) c.4120T>G (p.Cys1374Gly) c.2653T>G (p.Cys885Gly) c.3838T>G (p.Cys1280Gly) c.3424T>G (p.Cys1142Gly) c.4030T>G (p.Cys1344Gly) c.4384T>G (p.Cys1462Gly) | |
2 | g.25742133A>G | CA346073668 | ASXL2 | c.4201T>C (p.Cys1401Arg) c.4204T>C (p.Cys1402Arg) c.4120T>C (p.Cys1374Arg) c.2653T>C (p.Cys885Arg) c.3838T>C (p.Cys1280Arg) c.3424T>C (p.Cys1142Arg) c.4030T>C (p.Cys1344Arg) c.4384T>C (p.Cys1462Arg) | |
2 | g.25742133A>T | CA346073669 | ASXL2 | c.4201T>A (p.Cys1401Ser) c.4204T>A (p.Cys1402Ser) c.4120T>A (p.Cys1374Ser) c.2653T>A (p.Cys885Ser) c.3838T>A (p.Cys1280Ser) c.3424T>A (p.Cys1142Ser) c.4030T>A (p.Cys1344Ser) c.4384T>A (p.Cys1462Ser) | |
2 | g.25742134G>A | CA1557337 | ASXL2 | c.4200C>T (p.Tyr1400=) c.4203C>T (p.Tyr1401=) c.4119C>T (p.Tyr1373=) c.2652C>T (p.Tyr884=) c.3837C>T (p.Tyr1279=) c.3423C>T (p.Tyr1141=) c.4029C>T (p.Tyr1343=) c.4383C>T (p.Tyr1461=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742134G>C | CA346073671 | ASXL2 | c.4200C>G (p.Tyr1400Ter) c.4203C>G (p.Tyr1401Ter) c.4119C>G (p.Tyr1373Ter) c.2652C>G (p.Tyr884Ter) c.3837C>G (p.Tyr1279Ter) c.3423C>G (p.Tyr1141Ter) c.4029C>G (p.Tyr1343Ter) c.4383C>G (p.Tyr1461Ter) | |
2 | g.25742134G= | CA1239490337 | ASXL2 | c.4200C= (p.Tyr1400=) c.4203C= (p.Tyr1401=) c.4119C= (p.Tyr1373=) c.2652C= (p.Tyr884=) c.3837C= (p.Tyr1279=) c.3423C= (p.Tyr1141=) c.4029C= (p.Tyr1343=) c.4383C= (p.Tyr1461=) | |
2 | g.25742134G>T | CA346073670 | ASXL2 | c.4200C>A (p.Tyr1400Ter) c.4203C>A (p.Tyr1401Ter) c.4119C>A (p.Tyr1373Ter) c.2652C>A (p.Tyr884Ter) c.3837C>A (p.Tyr1279Ter) c.3423C>A (p.Tyr1141Ter) c.4029C>A (p.Tyr1343Ter) c.4383C>A (p.Tyr1461Ter) | |
2 | g.25742135T>A | CA346073672 | ASXL2 | c.4199A>T (p.Tyr1400Phe) c.4202A>T (p.Tyr1401Phe) c.4118A>T (p.Tyr1373Phe) c.2651A>T (p.Tyr884Phe) c.3836A>T (p.Tyr1279Phe) c.3422A>T (p.Tyr1141Phe) c.4028A>T (p.Tyr1343Phe) c.4382A>T (p.Tyr1461Phe) | |
2 | g.25742135T>C | CA346073674 | ASXL2 | c.4199A>G (p.Tyr1400Cys) c.4202A>G (p.Tyr1401Cys) c.4118A>G (p.Tyr1373Cys) c.2651A>G (p.Tyr884Cys) c.3836A>G (p.Tyr1279Cys) c.3422A>G (p.Tyr1141Cys) c.4028A>G (p.Tyr1343Cys) c.4382A>G (p.Tyr1461Cys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.25742135T>G | CA346073673 | ASXL2 | c.4199A>C (p.Tyr1400Ser) c.4202A>C (p.Tyr1401Ser) c.4118A>C (p.Tyr1373Ser) c.2651A>C (p.Tyr884Ser) c.3836A>C (p.Tyr1279Ser) c.3422A>C (p.Tyr1141Ser) c.4028A>C (p.Tyr1343Ser) c.4382A>C (p.Tyr1461Ser) | |
2 | g.25742135T= | CA1239490338 | ASXL2 | c.4199A= (p.Tyr1400=) c.4202A= (p.Tyr1401=) c.4118A= (p.Tyr1373=) c.2651A= (p.Tyr884=) c.3836A= (p.Tyr1279=) c.3422A= (p.Tyr1141=) c.4028A= (p.Tyr1343=) c.4382A= (p.Tyr1461=) | |
2 | g.25742136A>C | CA346073675 | ASXL2 | c.4198T>G (p.Tyr1400Asp) c.4201T>G (p.Tyr1401Asp) c.4117T>G (p.Tyr1373Asp) c.2650T>G (p.Tyr884Asp) c.3835T>G (p.Tyr1279Asp) c.3421T>G (p.Tyr1141Asp) c.4027T>G (p.Tyr1343Asp) c.4381T>G (p.Tyr1461Asp) | gnomAD v4 |
2 | g.25742136A>G | CA346073677 | ASXL2 | c.4198T>C (p.Tyr1400His) c.4201T>C (p.Tyr1401His) c.4117T>C (p.Tyr1373His) c.2650T>C (p.Tyr884His) c.3835T>C (p.Tyr1279His) c.3421T>C (p.Tyr1141His) c.4027T>C (p.Tyr1343His) c.4381T>C (p.Tyr1461His) | |
2 | g.25742136A>T | CA346073676 | ASXL2 | c.4198T>A (p.Tyr1400Asn) c.4201T>A (p.Tyr1401Asn) c.4117T>A (p.Tyr1373Asn) c.2650T>A (p.Tyr884Asn) c.3835T>A (p.Tyr1279Asn) c.3421T>A (p.Tyr1141Asn) c.4027T>A (p.Tyr1343Asn) c.4381T>A (p.Tyr1461Asn) | |
2 | g.25742137A>C | CA346073678 | ASXL2 | c.4197T>G (p.Cys1399Trp) c.4200T>G (p.Cys1400Trp) c.4116T>G (p.Cys1372Trp) c.2649T>G (p.Cys883Trp) c.3834T>G (p.Cys1278Trp) c.3420T>G (p.Cys1140Trp) c.4026T>G (p.Cys1342Trp) c.4380T>G (p.Cys1460Trp) | |
2 | g.25742137A>G | CA425181329 | ASXL2 | c.4197T>C (p.Cys1399=) c.4200T>C (p.Cys1400=) c.4116T>C (p.Cys1372=) c.2649T>C (p.Cys883=) c.3834T>C (p.Cys1278=) c.3420T>C (p.Cys1140=) c.4026T>C (p.Cys1342=) c.4380T>C (p.Cys1460=) | |
2 | g.25742137A>T | CA346073679 | ASXL2 | c.4197T>A (p.Cys1399Ter) c.4200T>A (p.Cys1400Ter) c.4116T>A (p.Cys1372Ter) c.2649T>A (p.Cys883Ter) c.3834T>A (p.Cys1278Ter) c.3420T>A (p.Cys1140Ter) c.4026T>A (p.Cys1342Ter) c.4380T>A (p.Cys1460Ter) | |
2 | g.25742138C>A | CA346073680 | ASXL2 | c.4196G>T (p.Cys1399Phe) c.4199G>T (p.Cys1400Phe) c.4115G>T (p.Cys1372Phe) c.2648G>T (p.Cys883Phe) c.3833G>T (p.Cys1278Phe) c.3419G>T (p.Cys1140Phe) c.4025G>T (p.Cys1342Phe) c.4379G>T (p.Cys1460Phe) | |
2 | g.25742138C>G | CA346073681 | ASXL2 | c.4196G>C (p.Cys1399Ser) c.4199G>C (p.Cys1400Ser) c.4115G>C (p.Cys1372Ser) c.2648G>C (p.Cys883Ser) c.3833G>C (p.Cys1278Ser) c.3419G>C (p.Cys1140Ser) c.4025G>C (p.Cys1342Ser) c.4379G>C (p.Cys1460Ser) | |
2 | g.25742138C>T | CA346073682 | ASXL2 | c.4196G>A (p.Cys1399Tyr) c.4199G>A (p.Cys1400Tyr) c.4115G>A (p.Cys1372Tyr) c.2648G>A (p.Cys883Tyr) c.3833G>A (p.Cys1278Tyr) c.3419G>A (p.Cys1140Tyr) c.4025G>A (p.Cys1342Tyr) c.4379G>A (p.Cys1460Tyr) | |
2 | g.25742139A>C | CA346073683 | ASXL2 | c.4195T>G (p.Cys1399Gly) c.4198T>G (p.Cys1400Gly) c.4114T>G (p.Cys1372Gly) c.2647T>G (p.Cys883Gly) c.3832T>G (p.Cys1278Gly) c.3418T>G (p.Cys1140Gly) c.4024T>G (p.Cys1342Gly) c.4378T>G (p.Cys1460Gly) | |
2 | g.25742139A>G | CA346073684 | ASXL2 | c.4195T>C (p.Cys1399Arg) c.4198T>C (p.Cys1400Arg) c.4114T>C (p.Cys1372Arg) c.2647T>C (p.Cys883Arg) c.3832T>C (p.Cys1278Arg) c.3418T>C (p.Cys1140Arg) c.4024T>C (p.Cys1342Arg) c.4378T>C (p.Cys1460Arg) | |
2 | g.25742139A>T | CA346073685 | ASXL2 | c.4195T>A (p.Cys1399Ser) c.4198T>A (p.Cys1400Ser) c.4114T>A (p.Cys1372Ser) c.2647T>A (p.Cys883Ser) c.3832T>A (p.Cys1278Ser) c.3418T>A (p.Cys1140Ser) c.4024T>A (p.Cys1342Ser) c.4378T>A (p.Cys1460Ser) | |
2 | g.25742140T>A | CA346073686 | ASXL2 | c.4194A>T (p.Lys1398Asn) c.4197A>T (p.Lys1399Asn) c.4113A>T (p.Lys1371Asn) c.2646A>T (p.Lys882Asn) c.3831A>T (p.Lys1277Asn) c.3417A>T (p.Lys1139Asn) c.4023A>T (p.Lys1341Asn) c.4377A>T (p.Lys1459Asn) | |
2 | g.25742140T>C | CA425181331 | ASXL2 | c.4194A>G (p.Lys1398=) c.4197A>G (p.Lys1399=) c.4113A>G (p.Lys1371=) c.2646A>G (p.Lys882=) c.3831A>G (p.Lys1277=) c.3417A>G (p.Lys1139=) c.4023A>G (p.Lys1341=) c.4377A>G (p.Lys1459=) | |
2 | g.25742140T>G | CA346073687 | ASXL2 | c.4194A>C (p.Lys1398Asn) c.4197A>C (p.Lys1399Asn) c.4113A>C (p.Lys1371Asn) c.2646A>C (p.Lys882Asn) c.3831A>C (p.Lys1277Asn) c.3417A>C (p.Lys1139Asn) c.4023A>C (p.Lys1341Asn) c.4377A>C (p.Lys1459Asn) | |
2 | g.25742141T>A | CA346073688 | ASXL2 | c.4193A>T (p.Lys1398Ile) c.4196A>T (p.Lys1399Ile) c.4112A>T (p.Lys1371Ile) c.2645A>T (p.Lys882Ile) c.3830A>T (p.Lys1277Ile) c.3416A>T (p.Lys1139Ile) c.4022A>T (p.Lys1341Ile) c.4376A>T (p.Lys1459Ile) | |
2 | g.25742141T>C | CA346073689 | ASXL2 | c.4193A>G (p.Lys1398Arg) c.4196A>G (p.Lys1399Arg) c.4112A>G (p.Lys1371Arg) c.2645A>G (p.Lys882Arg) c.3830A>G (p.Lys1277Arg) c.3416A>G (p.Lys1139Arg) c.4022A>G (p.Lys1341Arg) c.4376A>G (p.Lys1459Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742141T>G | CA346073690 | ASXL2 | c.4193A>C (p.Lys1398Thr) c.4196A>C (p.Lys1399Thr) c.4112A>C (p.Lys1371Thr) c.2645A>C (p.Lys882Thr) c.3830A>C (p.Lys1277Thr) c.3416A>C (p.Lys1139Thr) c.4022A>C (p.Lys1341Thr) c.4376A>C (p.Lys1459Thr) | |
2 | g.25742141T= | CA1239490339 | ASXL2 | c.4193A= (p.Lys1398=) c.4196A= (p.Lys1399=) c.4112A= (p.Lys1371=) c.2645A= (p.Lys882=) c.3830A= (p.Lys1277=) c.3416A= (p.Lys1139=) c.4022A= (p.Lys1341=) c.4376A= (p.Lys1459=) | |
2 | g.25742142T>A | CA346073691 | ASXL2 | c.4192A>T (p.Lys1398Ter) c.4195A>T (p.Lys1399Ter) c.4111A>T (p.Lys1371Ter) c.2644A>T (p.Lys882Ter) c.3829A>T (p.Lys1277Ter) c.3415A>T (p.Lys1139Ter) c.4021A>T (p.Lys1341Ter) c.4375A>T (p.Lys1459Ter) | |
2 | g.25742142T>C | CA346073693 | ASXL2 | c.4192A>G (p.Lys1398Glu) c.4195A>G (p.Lys1399Glu) c.4111A>G (p.Lys1371Glu) c.2644A>G (p.Lys882Glu) c.3829A>G (p.Lys1277Glu) c.3415A>G (p.Lys1139Glu) c.4021A>G (p.Lys1341Glu) c.4375A>G (p.Lys1459Glu) | |
2 | g.25742142T>G | CA346073692 | ASXL2 | c.4192A>C (p.Lys1398Gln) c.4195A>C (p.Lys1399Gln) c.4111A>C (p.Lys1371Gln) c.2644A>C (p.Lys882Gln) c.3829A>C (p.Lys1277Gln) c.3415A>C (p.Lys1139Gln) c.4021A>C (p.Lys1341Gln) c.4375A>C (p.Lys1459Gln) | |
2 | g.25742143C>A | CA425181332 | ASXL2 | c.4191G>T (p.Ser1397=) c.4194G>T (p.Ser1398=) c.4110G>T (p.Ser1370=) c.2643G>T (p.Ser881=) c.3828G>T (p.Ser1276=) c.3414G>T (p.Ser1138=) c.4020G>T (p.Ser1340=) c.4374G>T (p.Ser1458=) | |
2 | g.25742143C= | CA1239490340 | ASXL2 | c.4191G= (p.Ser1397=) c.4194G= (p.Ser1398=) c.4110G= (p.Ser1370=) c.2643G= (p.Ser881=) c.3828G= (p.Ser1276=) c.3414G= (p.Ser1138=) c.4020G= (p.Ser1340=) c.4374G= (p.Ser1458=) | |
2 | g.25742143C>G | CA425181333 | ASXL2 | c.4191G>C (p.Ser1397=) c.4194G>C (p.Ser1398=) c.4110G>C (p.Ser1370=) c.2643G>C (p.Ser881=) c.3828G>C (p.Ser1276=) c.3414G>C (p.Ser1138=) c.4020G>C (p.Ser1340=) c.4374G>C (p.Ser1458=) | |
2 | g.25742143C>T | CA1557338 | ASXL2 | c.4191G>A (p.Ser1397=) c.4194G>A (p.Ser1398=) c.4110G>A (p.Ser1370=) c.2643G>A (p.Ser881=) c.3828G>A (p.Ser1276=) c.3414G>A (p.Ser1138=) c.4020G>A (p.Ser1340=) c.4374G>A (p.Ser1458=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742144G>A | CA1557339 | ASXL2 | c.4190C>T (p.Ser1397Leu) c.4193C>T (p.Ser1398Leu) c.4109C>T (p.Ser1370Leu) c.2642C>T (p.Ser881Leu) c.3827C>T (p.Ser1276Leu) c.3413C>T (p.Ser1138Leu) c.4019C>T (p.Ser1340Leu) c.4373C>T (p.Ser1458Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742144G>C | CA346073694 | ASXL2 | c.4190C>G (p.Ser1397Trp) c.4193C>G (p.Ser1398Trp) c.4109C>G (p.Ser1370Trp) c.2642C>G (p.Ser881Trp) c.3827C>G (p.Ser1276Trp) c.3413C>G (p.Ser1138Trp) c.4019C>G (p.Ser1340Trp) c.4373C>G (p.Ser1458Trp) | dbSNP |
2 | g.25742144G= | CA1239490341 | ASXL2 | c.4190C= (p.Ser1397=) c.4193C= (p.Ser1398=) c.4109C= (p.Ser1370=) c.2642C= (p.Ser881=) c.3827C= (p.Ser1276=) c.3413C= (p.Ser1138=) c.4019C= (p.Ser1340=) c.4373C= (p.Ser1458=) | |
2 | g.25742144G>T | CA346073695 | ASXL2 | c.4190C>A (p.Ser1397Ter) c.4193C>A (p.Ser1398Ter) c.4109C>A (p.Ser1370Ter) c.2642C>A (p.Ser881Ter) c.3827C>A (p.Ser1276Ter) c.3413C>A (p.Ser1138Ter) c.4019C>A (p.Ser1340Ter) c.4373C>A (p.Ser1458Ter) | |
2 | g.25742145A= | CA1239490342 | ASXL2 | c.4189T= (p.Ser1397=) c.4192T= (p.Ser1398=) c.4108T= (p.Ser1370=) c.2641T= (p.Ser881=) c.3826T= (p.Ser1276=) c.3412T= (p.Ser1138=) c.4018T= (p.Ser1340=) c.4372T= (p.Ser1458=) | |
2 | g.25742145A>C | CA346073696 | ASXL2 | c.4189T>G (p.Ser1397Ala) c.4192T>G (p.Ser1398Ala) c.4108T>G (p.Ser1370Ala) c.2641T>G (p.Ser881Ala) c.3826T>G (p.Ser1276Ala) c.3412T>G (p.Ser1138Ala) c.4018T>G (p.Ser1340Ala) c.4372T>G (p.Ser1458Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25742145A>G | CA346073697 | ASXL2 | c.4189T>C (p.Ser1397Pro) c.4192T>C (p.Ser1398Pro) c.4108T>C (p.Ser1370Pro) c.2641T>C (p.Ser881Pro) c.3826T>C (p.Ser1276Pro) c.3412T>C (p.Ser1138Pro) c.4018T>C (p.Ser1340Pro) c.4372T>C (p.Ser1458Pro) | |
2 | g.25742145A>T | CA346073698 | ASXL2 | c.4189T>A (p.Ser1397Thr) c.4192T>A (p.Ser1398Thr) c.4108T>A (p.Ser1370Thr) c.2641T>A (p.Ser881Thr) c.3826T>A (p.Ser1276Thr) c.3412T>A (p.Ser1138Thr) c.4018T>A (p.Ser1340Thr) c.4372T>A (p.Ser1458Thr) | |
2 | g.25742146A>C | CA425181338 | ASXL2 | c.4188T>G (p.Pro1396=) c.4191T>G (p.Pro1397=) c.4107T>G (p.Pro1369=) c.2640T>G (p.Pro880=) c.3825T>G (p.Pro1275=) c.3411T>G (p.Pro1137=) c.4017T>G (p.Pro1339=) c.4371T>G (p.Pro1457=) | |
2 | g.25742146A>G | CA425181339 | ASXL2 | c.4188T>C (p.Pro1396=) c.4191T>C (p.Pro1397=) c.4107T>C (p.Pro1369=) c.2640T>C (p.Pro880=) c.3825T>C (p.Pro1275=) c.3411T>C (p.Pro1137=) c.4017T>C (p.Pro1339=) c.4371T>C (p.Pro1457=) | |
2 | g.25742146A>T | CA425181340 | ASXL2 | c.4188T>A (p.Pro1396=) c.4191T>A (p.Pro1397=) c.4107T>A (p.Pro1369=) c.2640T>A (p.Pro880=) c.3825T>A (p.Pro1275=) c.3411T>A (p.Pro1137=) c.4017T>A (p.Pro1339=) c.4371T>A (p.Pro1457=) | |
2 | g.25742147G>A | CA346073699 | ASXL2 | c.4187C>T (p.Pro1396Leu) c.4190C>T (p.Pro1397Leu) c.4106C>T (p.Pro1369Leu) c.2639C>T (p.Pro880Leu) c.3824C>T (p.Pro1275Leu) c.3410C>T (p.Pro1137Leu) c.4016C>T (p.Pro1339Leu) c.4370C>T (p.Pro1457Leu) | |
2 | g.25742147G>C | CA346073700 | ASXL2 | c.4187C>G (p.Pro1396Arg) c.4190C>G (p.Pro1397Arg) c.4106C>G (p.Pro1369Arg) c.2639C>G (p.Pro880Arg) c.3824C>G (p.Pro1275Arg) c.3410C>G (p.Pro1137Arg) c.4016C>G (p.Pro1339Arg) c.4370C>G (p.Pro1457Arg) | |
2 | g.25742147G>T | CA346073701 | ASXL2 | c.4187C>A (p.Pro1396His) c.4190C>A (p.Pro1397His) c.4106C>A (p.Pro1369His) c.2639C>A (p.Pro880His) c.3824C>A (p.Pro1275His) c.3410C>A (p.Pro1137His) c.4016C>A (p.Pro1339His) c.4370C>A (p.Pro1457His) | |
2 | g.25742148G>A | CA346073704 | ASXL2 | c.4186C>T (p.Pro1396Ser) c.4189C>T (p.Pro1397Ser) c.4105C>T (p.Pro1369Ser) c.2638C>T (p.Pro880Ser) c.3823C>T (p.Pro1275Ser) c.3409C>T (p.Pro1137Ser) c.4015C>T (p.Pro1339Ser) c.4369C>T (p.Pro1457Ser) | |
2 | g.25742148G>C | CA346073703 | ASXL2 | c.4186C>G (p.Pro1396Ala) c.4189C>G (p.Pro1397Ala) c.4105C>G (p.Pro1369Ala) c.2638C>G (p.Pro880Ala) c.3823C>G (p.Pro1275Ala) c.3409C>G (p.Pro1137Ala) c.4015C>G (p.Pro1339Ala) c.4369C>G (p.Pro1457Ala) | |
2 | g.25742148G>T | CA346073702 | ASXL2 | c.4186C>A (p.Pro1396Thr) c.4189C>A (p.Pro1397Thr) c.4105C>A (p.Pro1369Thr) c.2638C>A (p.Pro880Thr) c.3823C>A (p.Pro1275Thr) c.3409C>A (p.Pro1137Thr) c.4015C>A (p.Pro1339Thr) c.4369C>A (p.Pro1457Thr) | |
2 | g.25742149C>A | CA425181341 | ASXL2 | c.4185G>T (p.Thr1395=) c.4188G>T (p.Thr1396=) c.4104G>T (p.Thr1368=) c.2637G>T (p.Thr879=) c.3822G>T (p.Thr1274=) c.3408G>T (p.Thr1136=) c.4014G>T (p.Thr1338=) c.4368G>T (p.Thr1456=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.25742149C= | CA1239490343 | ASXL2 | c.4185G= (p.Thr1395=) c.4188G= (p.Thr1396=) c.4104G= (p.Thr1368=) c.2637G= (p.Thr879=) c.3822G= (p.Thr1274=) c.3408G= (p.Thr1136=) c.4014G= (p.Thr1338=) c.4368G= (p.Thr1456=) | |
2 | g.25742149C>G | CA425181343 | ASXL2 | c.4185G>C (p.Thr1395=) c.4188G>C (p.Thr1396=) c.4104G>C (p.Thr1368=) c.2637G>C (p.Thr879=) c.3822G>C (p.Thr1274=) c.3408G>C (p.Thr1136=) c.4014G>C (p.Thr1338=) c.4368G>C (p.Thr1456=) | |
2 | g.25742149C>T | CA1557340 | ASXL2 | c.4185G>A (p.Thr1395=) c.4188G>A (p.Thr1396=) c.4104G>A (p.Thr1368=) c.2637G>A (p.Thr879=) c.3822G>A (p.Thr1274=) c.3408G>A (p.Thr1136=) c.4014G>A (p.Thr1338=) c.4368G>A (p.Thr1456=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742150G>A | CA1557341 | ASXL2 | c.4184C>T (p.Thr1395Met) c.4187C>T (p.Thr1396Met) c.4103C>T (p.Thr1368Met) c.2636C>T (p.Thr879Met) c.3821C>T (p.Thr1274Met) c.3407C>T (p.Thr1136Met) c.4013C>T (p.Thr1338Met) c.4367C>T (p.Thr1456Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742150G>C | CA346073705 | ASXL2 | c.4184C>G (p.Thr1395Arg) c.4187C>G (p.Thr1396Arg) c.4103C>G (p.Thr1368Arg) c.2636C>G (p.Thr879Arg) c.3821C>G (p.Thr1274Arg) c.3407C>G (p.Thr1136Arg) c.4013C>G (p.Thr1338Arg) c.4367C>G (p.Thr1456Arg) | |
2 | g.25742150G= | CA1239490344 | ASXL2 | c.4184C= (p.Thr1395=) c.4187C= (p.Thr1396=) c.4103C= (p.Thr1368=) c.2636C= (p.Thr879=) c.3821C= (p.Thr1274=) c.3407C= (p.Thr1136=) c.4013C= (p.Thr1338=) c.4367C= (p.Thr1456=) | |
2 | g.25742150G>T | CA346073706 | ASXL2 | c.4184C>A (p.Thr1395Lys) c.4187C>A (p.Thr1396Lys) c.4103C>A (p.Thr1368Lys) c.2636C>A (p.Thr879Lys) c.3821C>A (p.Thr1274Lys) c.3407C>A (p.Thr1136Lys) c.4013C>A (p.Thr1338Lys) c.4367C>A (p.Thr1456Lys) | |
2 | g.25742151T>A | CA346073707 | ASXL2 | c.4183A>T (p.Thr1395Ser) c.4186A>T (p.Thr1396Ser) c.4102A>T (p.Thr1368Ser) c.2635A>T (p.Thr879Ser) c.3820A>T (p.Thr1274Ser) c.3406A>T (p.Thr1136Ser) c.4012A>T (p.Thr1338Ser) c.4366A>T (p.Thr1456Ser) | |
2 | g.25742151T>C | CA346073708 | ASXL2 | c.4183A>G (p.Thr1395Ala) c.4186A>G (p.Thr1396Ala) c.4102A>G (p.Thr1368Ala) c.2635A>G (p.Thr879Ala) c.3820A>G (p.Thr1274Ala) c.3406A>G (p.Thr1136Ala) c.4012A>G (p.Thr1338Ala) c.4366A>G (p.Thr1456Ala) | |
2 | g.25742151T>G | CA346073709 | ASXL2 | c.4183A>C (p.Thr1395Pro) c.4186A>C (p.Thr1396Pro) c.4102A>C (p.Thr1368Pro) c.2635A>C (p.Thr879Pro) c.3820A>C (p.Thr1274Pro) c.3406A>C (p.Thr1136Pro) c.4012A>C (p.Thr1338Pro) c.4366A>C (p.Thr1456Pro) | |
2 | g.25742152G>A | CA425181344 | ASXL2 | c.4182C>T (p.Gly1394=) c.4185C>T (p.Gly1395=) c.4101C>T (p.Gly1367=) c.2634C>T (p.Gly878=) c.3819C>T (p.Gly1273=) c.3405C>T (p.Gly1135=) c.4011C>T (p.Gly1337=) c.4365C>T (p.Gly1455=) | |
2 | g.25742152G>C | CA425181346 | ASXL2 | c.4182C>G (p.Gly1394=) c.4185C>G (p.Gly1395=) c.4101C>G (p.Gly1367=) c.2634C>G (p.Gly878=) c.3819C>G (p.Gly1273=) c.3405C>G (p.Gly1135=) c.4011C>G (p.Gly1337=) c.4365C>G (p.Gly1455=) | |
2 | g.25742152G>T | CA425181348 | ASXL2 | c.4182C>A (p.Gly1394=) c.4185C>A (p.Gly1395=) c.4101C>A (p.Gly1367=) c.2634C>A (p.Gly878=) c.3819C>A (p.Gly1273=) c.3405C>A (p.Gly1135=) c.4011C>A (p.Gly1337=) c.4365C>A (p.Gly1455=) | |
2 | g.25742153C>A | CA346073710 | ASXL2 | c.4181G>T (p.Gly1394Val) c.4184G>T (p.Gly1395Val) c.4100G>T (p.Gly1367Val) c.2633G>T (p.Gly878Val) c.3818G>T (p.Gly1273Val) c.3404G>T (p.Gly1135Val) c.4010G>T (p.Gly1337Val) c.4364G>T (p.Gly1455Val) | |
2 | g.25742153C>G | CA346073711 | ASXL2 | c.4181G>C (p.Gly1394Ala) c.4184G>C (p.Gly1395Ala) c.4100G>C (p.Gly1367Ala) c.2633G>C (p.Gly878Ala) c.3818G>C (p.Gly1273Ala) c.3404G>C (p.Gly1135Ala) c.4010G>C (p.Gly1337Ala) c.4364G>C (p.Gly1455Ala) | |
2 | g.25742153C>T | CA346073712 | ASXL2 | c.4181G>A (p.Gly1394Asp) c.4184G>A (p.Gly1395Asp) c.4100G>A (p.Gly1367Asp) c.2633G>A (p.Gly878Asp) c.3818G>A (p.Gly1273Asp) c.3404G>A (p.Gly1135Asp) c.4010G>A (p.Gly1337Asp) c.4364G>A (p.Gly1455Asp) | |
2 | g.25742154C>A | CA346073713 | ASXL2 | c.4180G>T (p.Gly1394Cys) c.4183G>T (p.Gly1395Cys) c.4099G>T (p.Gly1367Cys) c.2632G>T (p.Gly878Cys) c.3817G>T (p.Gly1273Cys) c.3403G>T (p.Gly1135Cys) c.4009G>T (p.Gly1337Cys) c.4363G>T (p.Gly1455Cys) | |
2 | g.25742154C>G | CA346073714 | ASXL2 | c.4180G>C (p.Gly1394Arg) c.4183G>C (p.Gly1395Arg) c.4099G>C (p.Gly1367Arg) c.2632G>C (p.Gly878Arg) c.3817G>C (p.Gly1273Arg) c.3403G>C (p.Gly1135Arg) c.4009G>C (p.Gly1337Arg) c.4363G>C (p.Gly1455Arg) | |
2 | g.25742154C>T | CA346073715 | ASXL2 | c.4180G>A (p.Gly1394Ser) c.4183G>A (p.Gly1395Ser) c.4099G>A (p.Gly1367Ser) c.2632G>A (p.Gly878Ser) c.3817G>A (p.Gly1273Ser) c.3403G>A (p.Gly1135Ser) c.4009G>A (p.Gly1337Ser) c.4363G>A (p.Gly1455Ser) | ClinVar gnomAD v4 |
2 | g.25742155C>A | CA346073717 | ASXL2 | c.4179G>T (p.Glu1393Asp) c.4182G>T (p.Glu1394Asp) c.4098G>T (p.Glu1366Asp) c.2631G>T (p.Glu877Asp) c.3816G>T (p.Glu1272Asp) c.3402G>T (p.Glu1134Asp) c.4008G>T (p.Glu1336Asp) c.4362G>T (p.Glu1454Asp) | |
2 | g.25742155C>G | CA346073716 | ASXL2 | c.4179G>C (p.Glu1393Asp) c.4182G>C (p.Glu1394Asp) c.4098G>C (p.Glu1366Asp) c.2631G>C (p.Glu877Asp) c.3816G>C (p.Glu1272Asp) c.3402G>C (p.Glu1134Asp) c.4008G>C (p.Glu1336Asp) c.4362G>C (p.Glu1454Asp) | |
2 | g.25742155C>T | CA425181350 | ASXL2 | c.4179G>A (p.Glu1393=) c.4182G>A (p.Glu1394=) c.4098G>A (p.Glu1366=) c.2631G>A (p.Glu877=) c.3816G>A (p.Glu1272=) c.3402G>A (p.Glu1134=) c.4008G>A (p.Glu1336=) c.4362G>A (p.Glu1454=) | gnomAD v4 |
2 | g.25742156T>A | CA346073718 | ASXL2 | c.4178A>T (p.Glu1393Val) c.4181A>T (p.Glu1394Val) c.4097A>T (p.Glu1366Val) c.2630A>T (p.Glu877Val) c.3815A>T (p.Glu1272Val) c.3401A>T (p.Glu1134Val) c.4007A>T (p.Glu1336Val) c.4361A>T (p.Glu1454Val) | |
2 | g.25742156T>C | CA346073719 | ASXL2 | c.4178A>G (p.Glu1393Gly) c.4181A>G (p.Glu1394Gly) c.4097A>G (p.Glu1366Gly) c.2630A>G (p.Glu877Gly) c.3815A>G (p.Glu1272Gly) c.3401A>G (p.Glu1134Gly) c.4007A>G (p.Glu1336Gly) c.4361A>G (p.Glu1454Gly) | gnomAD v4 |
2 | g.25742156T>G | CA346073720 | ASXL2 | c.4178A>C (p.Glu1393Ala) c.4181A>C (p.Glu1394Ala) c.4097A>C (p.Glu1366Ala) c.2630A>C (p.Glu877Ala) c.3815A>C (p.Glu1272Ala) c.3401A>C (p.Glu1134Ala) c.4007A>C (p.Glu1336Ala) c.4361A>C (p.Glu1454Ala) | |
2 | g.25742157C>A | CA346073721 | ASXL2 | c.4177G>T (p.Glu1393Ter) c.4180G>T (p.Glu1394Ter) c.4096G>T (p.Glu1366Ter) c.2629G>T (p.Glu877Ter) c.3814G>T (p.Glu1272Ter) c.3400G>T (p.Glu1134Ter) c.4006G>T (p.Glu1336Ter) c.4360G>T (p.Glu1454Ter) | |
2 | g.25742157C>G | CA346073722 | ASXL2 | c.4177G>C (p.Glu1393Gln) c.4180G>C (p.Glu1394Gln) c.4096G>C (p.Glu1366Gln) c.2629G>C (p.Glu877Gln) c.3814G>C (p.Glu1272Gln) c.3400G>C (p.Glu1134Gln) c.4006G>C (p.Glu1336Gln) c.4360G>C (p.Glu1454Gln) | |
2 | g.25742157C>T | CA346073723 | ASXL2 | c.4177G>A (p.Glu1393Lys) c.4180G>A (p.Glu1394Lys) c.4096G>A (p.Glu1366Lys) c.2629G>A (p.Glu877Lys) c.3814G>A (p.Glu1272Lys) c.3400G>A (p.Glu1134Lys) c.4006G>A (p.Glu1336Lys) c.4360G>A (p.Glu1454Lys) | |
2 | g.25742158T>A | CA425181353 | ASXL2 | c.4176A>T (p.Ile1392=) c.4179A>T (p.Ile1393=) c.4095A>T (p.Ile1365=) c.2628A>T (p.Ile876=) c.3813A>T (p.Ile1271=) c.3399A>T (p.Ile1133=) c.4005A>T (p.Ile1335=) c.4359A>T (p.Ile1453=) | |
2 | g.25742158T>C | CA346073724 | ASXL2 | c.4176A>G (p.Ile1392Met) c.4179A>G (p.Ile1393Met) c.4095A>G (p.Ile1365Met) c.2628A>G (p.Ile876Met) c.3813A>G (p.Ile1271Met) c.3399A>G (p.Ile1133Met) c.4005A>G (p.Ile1335Met) c.4359A>G (p.Ile1453Met) | |
2 | g.25742158T>G | CA425181351 | ASXL2 | c.4176A>C (p.Ile1392=) c.4179A>C (p.Ile1393=) c.4095A>C (p.Ile1365=) c.2628A>C (p.Ile876=) c.3813A>C (p.Ile1271=) c.3399A>C (p.Ile1133=) c.4005A>C (p.Ile1335=) c.4359A>C (p.Ile1453=) | |
2 | g.25742159A= | CA1239490345 | ASXL2 | c.4175T= (p.Ile1392=) c.4178T= (p.Ile1393=) c.4094T= (p.Ile1365=) c.2627T= (p.Ile876=) c.3812T= (p.Ile1271=) c.3398T= (p.Ile1133=) c.4004T= (p.Ile1335=) c.4358T= (p.Ile1453=) | |
2 | g.25742159A>C | CA346073725 | ASXL2 | c.4175T>G (p.Ile1392Arg) c.4178T>G (p.Ile1393Arg) c.4094T>G (p.Ile1365Arg) c.2627T>G (p.Ile876Arg) c.3812T>G (p.Ile1271Arg) c.3398T>G (p.Ile1133Arg) c.4004T>G (p.Ile1335Arg) c.4358T>G (p.Ile1453Arg) | |
2 | g.25742159A>G | CA346073726 | ASXL2 | c.4175T>C (p.Ile1392Thr) c.4178T>C (p.Ile1393Thr) c.4094T>C (p.Ile1365Thr) c.2627T>C (p.Ile876Thr) c.3812T>C (p.Ile1271Thr) c.3398T>C (p.Ile1133Thr) c.4004T>C (p.Ile1335Thr) c.4358T>C (p.Ile1453Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.25742159A>T | CA346073727 | ASXL2 | c.4175T>A (p.Ile1392Lys) c.4178T>A (p.Ile1393Lys) c.4094T>A (p.Ile1365Lys) c.2627T>A (p.Ile876Lys) c.3812T>A (p.Ile1271Lys) c.3398T>A (p.Ile1133Lys) c.4004T>A (p.Ile1335Lys) c.4358T>A (p.Ile1453Lys) | |
2 | g.25742160T>A | CA346073728 | ASXL2 | c.4174A>T (p.Ile1392Leu) c.4177A>T (p.Ile1393Leu) c.4093A>T (p.Ile1365Leu) c.2626A>T (p.Ile876Leu) c.3811A>T (p.Ile1271Leu) c.3397A>T (p.Ile1133Leu) c.4003A>T (p.Ile1335Leu) c.4357A>T (p.Ile1453Leu) | |
2 | g.25742160T>C | CA1557342 | ASXL2 | c.4174A>G (p.Ile1392Val) c.4177A>G (p.Ile1393Val) c.4093A>G (p.Ile1365Val) c.2626A>G (p.Ile876Val) c.3811A>G (p.Ile1271Val) c.3397A>G (p.Ile1133Val) c.4003A>G (p.Ile1335Val) c.4357A>G (p.Ile1453Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25742160T>G | CA346073729 | ASXL2 | c.4174A>C (p.Ile1392Leu) c.4177A>C (p.Ile1393Leu) c.4093A>C (p.Ile1365Leu) c.2626A>C (p.Ile876Leu) c.3811A>C (p.Ile1271Leu) c.3397A>C (p.Ile1133Leu) c.4003A>C (p.Ile1335Leu) c.4357A>C (p.Ile1453Leu) | gnomAD v4 |
2 | g.25742160T= | CA1239490346 | ASXL2 | c.4174A= (p.Ile1392=) c.4177A= (p.Ile1393=) c.4093A= (p.Ile1365=) c.2626A= (p.Ile876=) c.3811A= (p.Ile1271=) c.3397A= (p.Ile1133=) c.4003A= (p.Ile1335=) c.4357A= (p.Ile1453=) | |
2 | g.25742161G>A | CA425181360 | ASXL2 | c.4173C>T (p.Ser1391=) c.4176C>T (p.Ser1392=) c.4092C>T (p.Ser1364=) c.2625C>T (p.Ser875=) c.3810C>T (p.Ser1270=) c.3396C>T (p.Ser1132=) c.4002C>T (p.Ser1334=) c.4356C>T (p.Ser1452=) | |
2 | g.25742161G>C | CA346073730 | ASXL2 | c.4173C>G (p.Ser1391Arg) c.4176C>G (p.Ser1392Arg) c.4092C>G (p.Ser1364Arg) c.2625C>G (p.Ser875Arg) c.3810C>G (p.Ser1270Arg) c.3396C>G (p.Ser1132Arg) c.4002C>G (p.Ser1334Arg) c.4356C>G (p.Ser1452Arg) | |
2 | g.25742161G>T | CA346073731 | ASXL2 | c.4173C>A (p.Ser1391Arg) c.4176C>A (p.Ser1392Arg) c.4092C>A (p.Ser1364Arg) c.2625C>A (p.Ser875Arg) c.3810C>A (p.Ser1270Arg) c.3396C>A (p.Ser1132Arg) c.4002C>A (p.Ser1334Arg) c.4356C>A (p.Ser1452Arg) | |
2 | g.25742162C>A | CA346073732 | ASXL2 | c.4172G>T (p.Ser1391Ile) c.4175G>T (p.Ser1392Ile) c.4091G>T (p.Ser1364Ile) c.2624G>T (p.Ser875Ile) c.3809G>T (p.Ser1270Ile) c.3395G>T (p.Ser1132Ile) c.4001G>T (p.Ser1334Ile) c.4355G>T (p.Ser1452Ile) | |
2 | g.25742162C>G | CA346073734 | ASXL2 | c.4172G>C (p.Ser1391Thr) c.4175G>C (p.Ser1392Thr) c.4091G>C (p.Ser1364Thr) c.2624G>C (p.Ser875Thr) c.3809G>C (p.Ser1270Thr) c.3395G>C (p.Ser1132Thr) c.4001G>C (p.Ser1334Thr) c.4355G>C (p.Ser1452Thr) | |
2 | g.25742162C>T | CA346073733 | ASXL2 | c.4172G>A (p.Ser1391Asn) c.4175G>A (p.Ser1392Asn) c.4091G>A (p.Ser1364Asn) c.2624G>A (p.Ser875Asn) c.3809G>A (p.Ser1270Asn) c.3395G>A (p.Ser1132Asn) c.4001G>A (p.Ser1334Asn) c.4355G>A (p.Ser1452Asn) | |
2 | g.25742163T>A | CA346073735 | ASXL2 | c.4171A>T (p.Ser1391Cys) c.4174A>T (p.Ser1392Cys) c.4090A>T (p.Ser1364Cys) c.2623A>T (p.Ser875Cys) c.3808A>T (p.Ser1270Cys) c.3394A>T (p.Ser1132Cys) c.4000A>T (p.Ser1334Cys) c.4354A>T (p.Ser1452Cys) | |
2 | g.25742163T>C | CA346073736 | ASXL2 | c.4171A>G (p.Ser1391Gly) c.4174A>G (p.Ser1392Gly) c.4090A>G (p.Ser1364Gly) c.2623A>G (p.Ser875Gly) c.3808A>G (p.Ser1270Gly) c.3394A>G (p.Ser1132Gly) c.4000A>G (p.Ser1334Gly) c.4354A>G (p.Ser1452Gly) | gnomAD v4 |
2 | g.25742163T>G | CA346073737 | ASXL2 | c.4171A>C (p.Ser1391Arg) c.4174A>C (p.Ser1392Arg) c.4090A>C (p.Ser1364Arg) c.2623A>C (p.Ser875Arg) c.3808A>C (p.Ser1270Arg) c.3394A>C (p.Ser1132Arg) c.4000A>C (p.Ser1334Arg) c.4354A>C (p.Ser1452Arg) | |
2 | g.25742164G>A | CA425181361 | ASXL2 | c.4170C>T (p.Asn1390=) c.4173C>T (p.Asn1391=) c.4089C>T (p.Asn1363=) c.2622C>T (p.Asn874=) c.3807C>T (p.Asn1269=) c.3393C>T (p.Asn1131=) c.3999C>T (p.Asn1333=) c.4353C>T (p.Asn1451=) | |
2 | g.25742164G>C | CA1557343 | ASXL2 | c.4170C>G (p.Asn1390Lys) c.4173C>G (p.Asn1391Lys) c.4089C>G (p.Asn1363Lys) c.2622C>G (p.Asn874Lys) c.3807C>G (p.Asn1269Lys) c.3393C>G (p.Asn1131Lys) c.3999C>G (p.Asn1333Lys) c.4353C>G (p.Asn1451Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742164G= | CA1239490347 | ASXL2 | c.4170C= (p.Asn1390=) c.4173C= (p.Asn1391=) c.4089C= (p.Asn1363=) c.2622C= (p.Asn874=) c.3807C= (p.Asn1269=) c.3393C= (p.Asn1131=) c.3999C= (p.Asn1333=) c.4353C= (p.Asn1451=) | |
2 | g.25742164G>T | CA346073738 | ASXL2 | c.4170C>A (p.Asn1390Lys) c.4173C>A (p.Asn1391Lys) c.4089C>A (p.Asn1363Lys) c.2622C>A (p.Asn874Lys) c.3807C>A (p.Asn1269Lys) c.3393C>A (p.Asn1131Lys) c.3999C>A (p.Asn1333Lys) c.4353C>A (p.Asn1451Lys) | |
2 | g.25742165T>A | CA346073739 | ASXL2 | c.4169A>T (p.Asn1390Ile) c.4172A>T (p.Asn1391Ile) c.4088A>T (p.Asn1363Ile) c.2621A>T (p.Asn874Ile) c.3806A>T (p.Asn1269Ile) c.3392A>T (p.Asn1131Ile) c.3998A>T (p.Asn1333Ile) c.4352A>T (p.Asn1451Ile) | |
2 | g.25742165T>C | CA346073740 | ASXL2 | c.4169A>G (p.Asn1390Ser) c.4172A>G (p.Asn1391Ser) c.4088A>G (p.Asn1363Ser) c.2621A>G (p.Asn874Ser) c.3806A>G (p.Asn1269Ser) c.3392A>G (p.Asn1131Ser) c.3998A>G (p.Asn1333Ser) c.4352A>G (p.Asn1451Ser) | gnomAD v4 |
2 | g.25742165T>G | CA346073741 | ASXL2 | c.4169A>C (p.Asn1390Thr) c.4172A>C (p.Asn1391Thr) c.4088A>C (p.Asn1363Thr) c.2621A>C (p.Asn874Thr) c.3806A>C (p.Asn1269Thr) c.3392A>C (p.Asn1131Thr) c.3998A>C (p.Asn1333Thr) c.4352A>C (p.Asn1451Thr) | |
2 | g.25742166T>A | CA346073742 | ASXL2 | c.4168A>T (p.Asn1390Tyr) c.4171A>T (p.Asn1391Tyr) c.4087A>T (p.Asn1363Tyr) c.2620A>T (p.Asn874Tyr) c.3805A>T (p.Asn1269Tyr) c.3391A>T (p.Asn1131Tyr) c.3997A>T (p.Asn1333Tyr) c.4351A>T (p.Asn1451Tyr) | |
2 | g.25742166T>C | CA346073743 | ASXL2 | c.4168A>G (p.Asn1390Asp) c.4171A>G (p.Asn1391Asp) c.4087A>G (p.Asn1363Asp) c.2620A>G (p.Asn874Asp) c.3805A>G (p.Asn1269Asp) c.3391A>G (p.Asn1131Asp) c.3997A>G (p.Asn1333Asp) c.4351A>G (p.Asn1451Asp) | |
2 | g.25742166T>G | CA346073744 | ASXL2 | c.4168A>C (p.Asn1390His) c.4171A>C (p.Asn1391His) c.4087A>C (p.Asn1363His) c.2620A>C (p.Asn874His) c.3805A>C (p.Asn1269His) c.3391A>C (p.Asn1131His) c.3997A>C (p.Asn1333His) c.4351A>C (p.Asn1451His) | |
2 | g.25742167C>A | CA346073745 | ASXL2 | c.4167G>T (p.Glu1389Asp) c.4170G>T (p.Glu1390Asp) c.4086G>T (p.Glu1362Asp) c.2619G>T (p.Glu873Asp) c.3804G>T (p.Glu1268Asp) c.3390G>T (p.Glu1130Asp) c.3996G>T (p.Glu1332Asp) c.4350G>T (p.Glu1450Asp) | |
2 | g.25742167C= | CA1239490348 | ASXL2 | c.4167G= (p.Glu1389=) c.4170G= (p.Glu1390=) c.4086G= (p.Glu1362=) c.2619G= (p.Glu873=) c.3804G= (p.Glu1268=) c.3390G= (p.Glu1130=) c.3996G= (p.Glu1332=) c.4350G= (p.Glu1450=) | |
2 | g.25742167C>G | CA1557344 | ASXL2 | c.4167G>C (p.Glu1389Asp) c.4170G>C (p.Glu1390Asp) c.4086G>C (p.Glu1362Asp) c.2619G>C (p.Glu873Asp) c.3804G>C (p.Glu1268Asp) c.3390G>C (p.Glu1130Asp) c.3996G>C (p.Glu1332Asp) c.4350G>C (p.Glu1450Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25742167C>T | CA1557345 | ASXL2 | c.4167G>A (p.Glu1389=) c.4170G>A (p.Glu1390=) c.4086G>A (p.Glu1362=) c.2619G>A (p.Glu873=) c.3804G>A (p.Glu1268=) c.3390G>A (p.Glu1130=) c.3996G>A (p.Glu1332=) c.4350G>A (p.Glu1450=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742168T>A | CA346073746 | ASXL2 | c.4166A>T (p.Glu1389Val) c.4169A>T (p.Glu1390Val) c.4085A>T (p.Glu1362Val) c.2618A>T (p.Glu873Val) c.3803A>T (p.Glu1268Val) c.3389A>T (p.Glu1130Val) c.3995A>T (p.Glu1332Val) c.4349A>T (p.Glu1450Val) | gnomAD v4 |
2 | g.25742168T>C | CA1557346 | ASXL2 | c.4166A>G (p.Glu1389Gly) c.4169A>G (p.Glu1390Gly) c.4085A>G (p.Glu1362Gly) c.2618A>G (p.Glu873Gly) c.3803A>G (p.Glu1268Gly) c.3389A>G (p.Glu1130Gly) c.3995A>G (p.Glu1332Gly) c.4349A>G (p.Glu1450Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25742168T>G | CA346073747 | ASXL2 | c.4166A>C (p.Glu1389Ala) c.4169A>C (p.Glu1390Ala) c.4085A>C (p.Glu1362Ala) c.2618A>C (p.Glu873Ala) c.3803A>C (p.Glu1268Ala) c.3389A>C (p.Glu1130Ala) c.3995A>C (p.Glu1332Ala) c.4349A>C (p.Glu1450Ala) | |
2 | g.25742168T= | CA1239490349 | ASXL2 | c.4166A= (p.Glu1389=) c.4169A= (p.Glu1390=) c.4085A= (p.Glu1362=) c.2618A= (p.Glu873=) c.3803A= (p.Glu1268=) c.3389A= (p.Glu1130=) c.3995A= (p.Glu1332=) c.4349A= (p.Glu1450=) | |
2 | g.25742169C>A | CA346073748 | ASXL2 | c.4165G>T (p.Glu1389Ter) c.4168G>T (p.Glu1390Ter) c.4084G>T (p.Glu1362Ter) c.2617G>T (p.Glu873Ter) c.3802G>T (p.Glu1268Ter) c.3388G>T (p.Glu1130Ter) c.3994G>T (p.Glu1332Ter) c.4348G>T (p.Glu1450Ter) | |
2 | g.25742169C= | CA1239490350 | ASXL2 | c.4165G= (p.Glu1389=) c.4168G= (p.Glu1390=) c.4084G= (p.Glu1362=) c.2617G= (p.Glu873=) c.3802G= (p.Glu1268=) c.3388G= (p.Glu1130=) c.3994G= (p.Glu1332=) c.4348G= (p.Glu1450=) | |
2 | g.25742169C>G | CA346073749 | ASXL2 | c.4165G>C (p.Glu1389Gln) c.4168G>C (p.Glu1390Gln) c.4084G>C (p.Glu1362Gln) c.2617G>C (p.Glu873Gln) c.3802G>C (p.Glu1268Gln) c.3388G>C (p.Glu1130Gln) c.3994G>C (p.Glu1332Gln) c.4348G>C (p.Glu1450Gln) | |
2 | g.25742169C>T | CA1557347 | ASXL2 | c.4165G>A (p.Glu1389Lys) c.4168G>A (p.Glu1390Lys) c.4084G>A (p.Glu1362Lys) c.2617G>A (p.Glu873Lys) c.3802G>A (p.Glu1268Lys) c.3388G>A (p.Glu1130Lys) c.3994G>A (p.Glu1332Lys) c.4348G>A (p.Glu1450Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742170T>A | CA346073750 | ASXL2 | c.4164A>T (p.Glu1388Asp) c.4167A>T (p.Glu1389Asp) c.4083A>T (p.Glu1361Asp) c.2616A>T (p.Glu872Asp) c.3801A>T (p.Glu1267Asp) c.3387A>T (p.Glu1129Asp) c.3993A>T (p.Glu1331Asp) c.4347A>T (p.Glu1449Asp) | |
2 | g.25742170T>C | CA1557348 | ASXL2 | c.4164A>G (p.Glu1388=) c.4167A>G (p.Glu1389=) c.4083A>G (p.Glu1361=) c.2616A>G (p.Glu872=) c.3801A>G (p.Glu1267=) c.3387A>G (p.Glu1129=) c.3993A>G (p.Glu1331=) c.4347A>G (p.Glu1449=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742170T>G | CA346073751 | ASXL2 | c.4164A>C (p.Glu1388Asp) c.4167A>C (p.Glu1389Asp) c.4083A>C (p.Glu1361Asp) c.2616A>C (p.Glu872Asp) c.3801A>C (p.Glu1267Asp) c.3387A>C (p.Glu1129Asp) c.3993A>C (p.Glu1331Asp) c.4347A>C (p.Glu1449Asp) | dbSNP gnomAD v4 |
2 | g.25742170T= | CA1239490351 | ASXL2 | c.4164A= (p.Glu1388=) c.4167A= (p.Glu1389=) c.4083A= (p.Glu1361=) c.2616A= (p.Glu872=) c.3801A= (p.Glu1267=) c.3387A= (p.Glu1129=) c.3993A= (p.Glu1331=) c.4347A= (p.Glu1449=) | |
2 | g.25742171T>A | CA346073752 | ASXL2 | c.4163A>T (p.Glu1388Val) c.4166A>T (p.Glu1389Val) c.4082A>T (p.Glu1361Val) c.2615A>T (p.Glu872Val) c.3800A>T (p.Glu1267Val) c.3386A>T (p.Glu1129Val) c.3992A>T (p.Glu1331Val) c.4346A>T (p.Glu1449Val) | |
2 | g.25742171T>C | CA346073753 | ASXL2 | c.4163A>G (p.Glu1388Gly) c.4166A>G (p.Glu1389Gly) c.4082A>G (p.Glu1361Gly) c.2615A>G (p.Glu872Gly) c.3800A>G (p.Glu1267Gly) c.3386A>G (p.Glu1129Gly) c.3992A>G (p.Glu1331Gly) c.4346A>G (p.Glu1449Gly) | |
2 | g.25742171T>G | CA346073754 | ASXL2 | c.4163A>C (p.Glu1388Ala) c.4166A>C (p.Glu1389Ala) c.4082A>C (p.Glu1361Ala) c.2615A>C (p.Glu872Ala) c.3800A>C (p.Glu1267Ala) c.3386A>C (p.Glu1129Ala) c.3992A>C (p.Glu1331Ala) c.4346A>C (p.Glu1449Ala) | |
2 | g.25742172C>A | CA346073755 | ASXL2 | c.4162G>T (p.Glu1388Ter) c.4165G>T (p.Glu1389Ter) c.4081G>T (p.Glu1361Ter) c.2614G>T (p.Glu872Ter) c.3799G>T (p.Glu1267Ter) c.3385G>T (p.Glu1129Ter) c.3991G>T (p.Glu1331Ter) c.4345G>T (p.Glu1449Ter) | COSMIC COSMIC |
2 | g.25742172C= | CA1239490352 | ASXL2 | c.4162G= (p.Glu1388=) c.4165G= (p.Glu1389=) c.4081G= (p.Glu1361=) c.2614G= (p.Glu872=) c.3799G= (p.Glu1267=) c.3385G= (p.Glu1129=) c.3991G= (p.Glu1331=) c.4345G= (p.Glu1449=) | |
2 | g.25742172C>G | CA1557349 | ASXL2 | c.4162G>C (p.Glu1388Gln) c.4165G>C (p.Glu1389Gln) c.4081G>C (p.Glu1361Gln) c.2614G>C (p.Glu872Gln) c.3799G>C (p.Glu1267Gln) c.3385G>C (p.Glu1129Gln) c.3991G>C (p.Glu1331Gln) c.4345G>C (p.Glu1449Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.25742172C>T | CA1557350 | ASXL2 | c.4162G>A (p.Glu1388Lys) c.4165G>A (p.Glu1389Lys) c.4081G>A (p.Glu1361Lys) c.2614G>A (p.Glu872Lys) c.3799G>A (p.Glu1267Lys) c.3385G>A (p.Glu1129Lys) c.3991G>A (p.Glu1331Lys) c.4345G>A (p.Glu1449Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742173G>A | CA1557351 | ASXL2 | c.4161C>T (p.Ser1387=) c.4164C>T (p.Ser1388=) c.4080C>T (p.Ser1360=) c.2613C>T (p.Ser871=) c.3798C>T (p.Ser1266=) c.3384C>T (p.Ser1128=) c.3990C>T (p.Ser1330=) c.4344C>T (p.Ser1448=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.25742173G>C | CA425181367 | ASXL2 | c.4161C>G (p.Ser1387=) c.4164C>G (p.Ser1388=) c.4080C>G (p.Ser1360=) c.2613C>G (p.Ser871=) c.3798C>G (p.Ser1266=) c.3384C>G (p.Ser1128=) c.3990C>G (p.Ser1330=) c.4344C>G (p.Ser1448=) | gnomAD v4 |
2 | g.25742173G= | CA1239490353 | ASXL2 | c.4161C= (p.Ser1387=) c.4164C= (p.Ser1388=) c.4080C= (p.Ser1360=) c.2613C= (p.Ser871=) c.3798C= (p.Ser1266=) c.3384C= (p.Ser1128=) c.3990C= (p.Ser1330=) c.4344C= (p.Ser1448=) | |
2 | g.25742173G>T | CA425181368 | ASXL2 | c.4161C>A (p.Ser1387=) c.4164C>A (p.Ser1388=) c.4080C>A (p.Ser1360=) c.2613C>A (p.Ser871=) c.3798C>A (p.Ser1266=) c.3384C>A (p.Ser1128=) c.3990C>A (p.Ser1330=) c.4344C>A (p.Ser1448=) | |
2 | g.25742174G>A | CA346073756 | ASXL2 | c.4160C>T (p.Ser1387Phe) c.4163C>T (p.Ser1388Phe) c.4079C>T (p.Ser1360Phe) c.2612C>T (p.Ser871Phe) c.3797C>T (p.Ser1266Phe) c.3383C>T (p.Ser1128Phe) c.3989C>T (p.Ser1330Phe) c.4343C>T (p.Ser1448Phe) | |
2 | g.25742174G>C | CA346073757 | ASXL2 | c.4160C>G (p.Ser1387Cys) c.4163C>G (p.Ser1388Cys) c.4079C>G (p.Ser1360Cys) c.2612C>G (p.Ser871Cys) c.3797C>G (p.Ser1266Cys) c.3383C>G (p.Ser1128Cys) c.3989C>G (p.Ser1330Cys) c.4343C>G (p.Ser1448Cys) | |
2 | g.25742174G>T | CA346073758 | ASXL2 | c.4160C>A (p.Ser1387Tyr) c.4163C>A (p.Ser1388Tyr) c.4079C>A (p.Ser1360Tyr) c.2612C>A (p.Ser871Tyr) c.3797C>A (p.Ser1266Tyr) c.3383C>A (p.Ser1128Tyr) c.3989C>A (p.Ser1330Tyr) c.4343C>A (p.Ser1448Tyr) | |
2 | g.25742175A>C | CA346073759 | ASXL2 | c.4159T>G (p.Ser1387Ala) c.4162T>G (p.Ser1388Ala) c.4078T>G (p.Ser1360Ala) c.2611T>G (p.Ser871Ala) c.3796T>G (p.Ser1266Ala) c.3382T>G (p.Ser1128Ala) c.3988T>G (p.Ser1330Ala) c.4342T>G (p.Ser1448Ala) | |
2 | g.25742175A>G | CA346073760 | ASXL2 | c.4159T>C (p.Ser1387Pro) c.4162T>C (p.Ser1388Pro) c.4078T>C (p.Ser1360Pro) c.2611T>C (p.Ser871Pro) c.3796T>C (p.Ser1266Pro) c.3382T>C (p.Ser1128Pro) c.3988T>C (p.Ser1330Pro) c.4342T>C (p.Ser1448Pro) | dbSNP |
2 | g.25742175A>T | CA346073761 | ASXL2 | c.4159T>A (p.Ser1387Thr) c.4162T>A (p.Ser1388Thr) c.4078T>A (p.Ser1360Thr) c.2611T>A (p.Ser871Thr) c.3796T>A (p.Ser1266Thr) c.3382T>A (p.Ser1128Thr) c.3988T>A (p.Ser1330Thr) c.4342T>A (p.Ser1448Thr) | |
2 | g.25742176G>A | CA425181369 | ASXL2 | c.4158C>T (p.Phe1386=) c.4161C>T (p.Phe1387=) c.4077C>T (p.Phe1359=) c.2610C>T (p.Phe870=) c.3795C>T (p.Phe1265=) c.3381C>T (p.Phe1127=) c.3987C>T (p.Phe1329=) c.4341C>T (p.Phe1447=) | COSMIC COSMIC |
2 | g.25742176G>C | CA346073762 | ASXL2 | c.4158C>G (p.Phe1386Leu) c.4161C>G (p.Phe1387Leu) c.4077C>G (p.Phe1359Leu) c.2610C>G (p.Phe870Leu) c.3795C>G (p.Phe1265Leu) c.3381C>G (p.Phe1127Leu) c.3987C>G (p.Phe1329Leu) c.4341C>G (p.Phe1447Leu) | |
2 | g.25742176G>T | CA346073763 | ASXL2 | c.4158C>A (p.Phe1386Leu) c.4161C>A (p.Phe1387Leu) c.4077C>A (p.Phe1359Leu) c.2610C>A (p.Phe870Leu) c.3795C>A (p.Phe1265Leu) c.3381C>A (p.Phe1127Leu) c.3987C>A (p.Phe1329Leu) c.4341C>A (p.Phe1447Leu) | gnomAD v4 |