Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.33744126T>A | CA402190572 | ASXL3 | c.4281T>A (p.Tyr1427Ter) c.4278T>A (p.Tyr1426Ter) c.4158T>A (p.Tyr1386Ter) c.4254T>A (p.Tyr1418Ter) c.4200T>A (p.Tyr1400Ter) c.4161T>A (p.Tyr1387Ter) c.4110T>A (p.Tyr1370Ter) c.1242T>A (p.Tyr414Ter) | |
18 | g.33744126T>C | CA503770411 | ASXL3 | c.4281T>C (p.Tyr1427=) c.4278T>C (p.Tyr1426=) c.4158T>C (p.Tyr1386=) c.4254T>C (p.Tyr1418=) c.4200T>C (p.Tyr1400=) c.4161T>C (p.Tyr1387=) c.4110T>C (p.Tyr1370=) c.1242T>C (p.Tyr414=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33744126T>G | CA402190573 | ASXL3 | c.4281T>G (p.Tyr1427Ter) c.4278T>G (p.Tyr1426Ter) c.4158T>G (p.Tyr1386Ter) c.4254T>G (p.Tyr1418Ter) c.4200T>G (p.Tyr1400Ter) c.4161T>G (p.Tyr1387Ter) c.4110T>G (p.Tyr1370Ter) c.1242T>G (p.Tyr414Ter) | |
18 | g.33744126T= | CA2294858006 | ASXL3 | c.4281T= (p.Tyr1427=) c.4278T= (p.Tyr1426=) c.4158T= (p.Tyr1386=) c.4254T= (p.Tyr1418=) c.4200T= (p.Tyr1400=) c.4161T= (p.Tyr1387=) c.4110T= (p.Tyr1370=) c.1242T= (p.Tyr414=) | |
18 | g.33744127G>A | CA8934225 | ASXL3 | c.4282G>A (p.Asp1428Asn) c.4279G>A (p.Asp1427Asn) c.4159G>A (p.Asp1387Asn) c.4255G>A (p.Asp1419Asn) c.4201G>A (p.Asp1401Asn) c.4162G>A (p.Asp1388Asn) c.4111G>A (p.Asp1371Asn) c.1243G>A (p.Asp415Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744127G>C | CA402190574 | ASXL3 | c.4282G>C (p.Asp1428His) c.4279G>C (p.Asp1427His) c.4159G>C (p.Asp1387His) c.4255G>C (p.Asp1419His) c.4201G>C (p.Asp1401His) c.4162G>C (p.Asp1388His) c.4111G>C (p.Asp1371His) c.1243G>C (p.Asp415His) | |
18 | g.33744127G= | CA2294858007 | ASXL3 | c.4282G= (p.Asp1428=) c.4279G= (p.Asp1427=) c.4159G= (p.Asp1387=) c.4255G= (p.Asp1419=) c.4201G= (p.Asp1401=) c.4162G= (p.Asp1388=) c.4111G= (p.Asp1371=) c.1243G= (p.Asp415=) | |
18 | g.33744127G>T | CA402190575 | ASXL3 | c.4282G>T (p.Asp1428Tyr) c.4279G>T (p.Asp1427Tyr) c.4159G>T (p.Asp1387Tyr) c.4255G>T (p.Asp1419Tyr) c.4201G>T (p.Asp1401Tyr) c.4162G>T (p.Asp1388Tyr) c.4111G>T (p.Asp1371Tyr) c.1243G>T (p.Asp415Tyr) | |
18 | g.33744128A>C | CA402190577 | ASXL3 | c.4283A>C (p.Asp1428Ala) c.4280A>C (p.Asp1427Ala) c.4160A>C (p.Asp1387Ala) c.4256A>C (p.Asp1419Ala) c.4202A>C (p.Asp1401Ala) c.4163A>C (p.Asp1388Ala) c.4112A>C (p.Asp1371Ala) c.1244A>C (p.Asp415Ala) | gnomAD v4 |
18 | g.33744128A>G | CA402190578 | ASXL3 | c.4283A>G (p.Asp1428Gly) c.4280A>G (p.Asp1427Gly) c.4160A>G (p.Asp1387Gly) c.4256A>G (p.Asp1419Gly) c.4202A>G (p.Asp1401Gly) c.4163A>G (p.Asp1388Gly) c.4112A>G (p.Asp1371Gly) c.1244A>G (p.Asp415Gly) | gnomAD v4 |
18 | g.33744128A>T | CA402190576 | ASXL3 | c.4283A>T (p.Asp1428Val) c.4280A>T (p.Asp1427Val) c.4160A>T (p.Asp1387Val) c.4256A>T (p.Asp1419Val) c.4202A>T (p.Asp1401Val) c.4163A>T (p.Asp1388Val) c.4112A>T (p.Asp1371Val) c.1244A>T (p.Asp415Val) | |
18 | g.33744129T>A | CA402190579 | ASXL3 | c.4284T>A (p.Asp1428Glu) c.4281T>A (p.Asp1427Glu) c.4161T>A (p.Asp1387Glu) c.4257T>A (p.Asp1419Glu) c.4203T>A (p.Asp1401Glu) c.4164T>A (p.Asp1388Glu) c.4113T>A (p.Asp1371Glu) c.1245T>A (p.Asp415Glu) | |
18 | g.33744129T>C | CA503770414 | ASXL3 | c.4284T>C (p.Asp1428=) c.4281T>C (p.Asp1427=) c.4161T>C (p.Asp1387=) c.4257T>C (p.Asp1419=) c.4203T>C (p.Asp1401=) c.4164T>C (p.Asp1388=) c.4113T>C (p.Asp1371=) c.1245T>C (p.Asp415=) | gnomAD v4 |
18 | g.33744129T>G | CA402190580 | ASXL3 | c.4284T>G (p.Asp1428Glu) c.4281T>G (p.Asp1427Glu) c.4161T>G (p.Asp1387Glu) c.4257T>G (p.Asp1419Glu) c.4203T>G (p.Asp1401Glu) c.4164T>G (p.Asp1388Glu) c.4113T>G (p.Asp1371Glu) c.1245T>G (p.Asp415Glu) | |
18 | g.33744130A= | CA2294858008 | ASXL3 | c.4285A= (p.Ser1429=) c.4282A= (p.Ser1428=) c.4162A= (p.Ser1388=) c.4258A= (p.Ser1420=) c.4204A= (p.Ser1402=) c.4165A= (p.Ser1389=) c.4114A= (p.Ser1372=) c.1246A= (p.Ser416=) | |
18 | g.33744130A>C | CA402190581 | ASXL3 | c.4285A>C (p.Ser1429Arg) c.4282A>C (p.Ser1428Arg) c.4162A>C (p.Ser1388Arg) c.4258A>C (p.Ser1420Arg) c.4204A>C (p.Ser1402Arg) c.4165A>C (p.Ser1389Arg) c.4114A>C (p.Ser1372Arg) c.1246A>C (p.Ser416Arg) | |
18 | g.33744130A>G | CA8934226 | ASXL3 | c.4285A>G (p.Ser1429Gly) c.4282A>G (p.Ser1428Gly) c.4162A>G (p.Ser1388Gly) c.4258A>G (p.Ser1420Gly) c.4204A>G (p.Ser1402Gly) c.4165A>G (p.Ser1389Gly) c.4114A>G (p.Ser1372Gly) c.1246A>G (p.Ser416Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744130A>T | CA402190582 | ASXL3 | c.4285A>T (p.Ser1429Cys) c.4282A>T (p.Ser1428Cys) c.4162A>T (p.Ser1388Cys) c.4258A>T (p.Ser1420Cys) c.4204A>T (p.Ser1402Cys) c.4165A>T (p.Ser1389Cys) c.4114A>T (p.Ser1372Cys) c.1246A>T (p.Ser416Cys) | |
18 | g.33744131G>A | CA8934227 | ASXL3 | c.4286G>A (p.Ser1429Asn) c.4283G>A (p.Ser1428Asn) c.4163G>A (p.Ser1388Asn) c.4259G>A (p.Ser1420Asn) c.4205G>A (p.Ser1402Asn) c.4166G>A (p.Ser1389Asn) c.4115G>A (p.Ser1372Asn) c.1247G>A (p.Ser416Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744131G>C | CA402190583 | ASXL3 | c.4286G>C (p.Ser1429Thr) c.4283G>C (p.Ser1428Thr) c.4163G>C (p.Ser1388Thr) c.4259G>C (p.Ser1420Thr) c.4205G>C (p.Ser1402Thr) c.4166G>C (p.Ser1389Thr) c.4115G>C (p.Ser1372Thr) c.1247G>C (p.Ser416Thr) | |
18 | g.33744131G= | CA2294858009 | ASXL3 | c.4286G= (p.Ser1429=) c.4283G= (p.Ser1428=) c.4163G= (p.Ser1388=) c.4259G= (p.Ser1420=) c.4205G= (p.Ser1402=) c.4166G= (p.Ser1389=) c.4115G= (p.Ser1372=) c.1247G= (p.Ser416=) | |
18 | g.33744131G>T | CA8934228 | ASXL3 | c.4286G>T (p.Ser1429Ile) c.4283G>T (p.Ser1428Ile) c.4163G>T (p.Ser1388Ile) c.4259G>T (p.Ser1420Ile) c.4205G>T (p.Ser1402Ile) c.4166G>T (p.Ser1389Ile) c.4115G>T (p.Ser1372Ile) c.1247G>T (p.Ser416Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744132T>A | CA402190584 | ASXL3 | c.4287T>A (p.Ser1429Arg) c.4284T>A (p.Ser1428Arg) c.4164T>A (p.Ser1388Arg) c.4260T>A (p.Ser1420Arg) c.4206T>A (p.Ser1402Arg) c.4167T>A (p.Ser1389Arg) c.4116T>A (p.Ser1372Arg) c.1248T>A (p.Ser416Arg) | |
18 | g.33744132T>C | CA503770421 | ASXL3 | c.4287T>C (p.Ser1429=) c.4284T>C (p.Ser1428=) c.4164T>C (p.Ser1388=) c.4260T>C (p.Ser1420=) c.4206T>C (p.Ser1402=) c.4167T>C (p.Ser1389=) c.4116T>C (p.Ser1372=) c.1248T>C (p.Ser416=) | |
18 | g.33744132T>G | CA402190585 | ASXL3 | c.4287T>G (p.Ser1429Arg) c.4284T>G (p.Ser1428Arg) c.4164T>G (p.Ser1388Arg) c.4260T>G (p.Ser1420Arg) c.4206T>G (p.Ser1402Arg) c.4167T>G (p.Ser1389Arg) c.4116T>G (p.Ser1372Arg) c.1248T>G (p.Ser416Arg) | |
18 | g.33744133C>A | CA402190586 | ASXL3 | c.4288C>A (p.Pro1430Thr) c.4285C>A (p.Pro1429Thr) c.4165C>A (p.Pro1389Thr) c.4261C>A (p.Pro1421Thr) c.4207C>A (p.Pro1403Thr) c.4168C>A (p.Pro1390Thr) c.4117C>A (p.Pro1373Thr) c.1249C>A (p.Pro417Thr) | gnomAD v4 COSMIC |
18 | g.33744133C= | CA2294858010 | ASXL3 | c.4288C= (p.Pro1430=) c.4285C= (p.Pro1429=) c.4165C= (p.Pro1389=) c.4261C= (p.Pro1421=) c.4207C= (p.Pro1403=) c.4168C= (p.Pro1390=) c.4117C= (p.Pro1373=) c.1249C= (p.Pro417=) | |
18 | g.33744133C>G | CA402190587 | ASXL3 | c.4288C>G (p.Pro1430Ala) c.4285C>G (p.Pro1429Ala) c.4165C>G (p.Pro1389Ala) c.4261C>G (p.Pro1421Ala) c.4207C>G (p.Pro1403Ala) c.4168C>G (p.Pro1390Ala) c.4117C>G (p.Pro1373Ala) c.1249C>G (p.Pro417Ala) | |
18 | g.33744133C>T | CA8934229 | ASXL3 | c.4288C>T (p.Pro1430Ser) c.4285C>T (p.Pro1429Ser) c.4165C>T (p.Pro1389Ser) c.4261C>T (p.Pro1421Ser) c.4207C>T (p.Pro1403Ser) c.4168C>T (p.Pro1390Ser) c.4117C>T (p.Pro1373Ser) c.1249C>T (p.Pro417Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744134C>A | CA402190589 | ASXL3 | c.4289C>A (p.Pro1430His) c.4286C>A (p.Pro1429His) c.4166C>A (p.Pro1389His) c.4262C>A (p.Pro1421His) c.4208C>A (p.Pro1403His) c.4169C>A (p.Pro1390His) c.4118C>A (p.Pro1373His) c.1250C>A (p.Pro417His) | |
18 | g.33744134C= | CA2294858011 | ASXL3 | c.4289C= (p.Pro1430=) c.4286C= (p.Pro1429=) c.4166C= (p.Pro1389=) c.4262C= (p.Pro1421=) c.4208C= (p.Pro1403=) c.4169C= (p.Pro1390=) c.4118C= (p.Pro1373=) c.1250C= (p.Pro417=) | |
18 | g.33744134C>G | CA402190588 | ASXL3 | c.4289C>G (p.Pro1430Arg) c.4286C>G (p.Pro1429Arg) c.4166C>G (p.Pro1389Arg) c.4262C>G (p.Pro1421Arg) c.4208C>G (p.Pro1403Arg) c.4169C>G (p.Pro1390Arg) c.4118C>G (p.Pro1373Arg) c.1250C>G (p.Pro417Arg) | |
18 | g.33744134C>T | CA8934230 | ASXL3 | c.4289C>T (p.Pro1430Leu) c.4286C>T (p.Pro1429Leu) c.4166C>T (p.Pro1389Leu) c.4262C>T (p.Pro1421Leu) c.4208C>T (p.Pro1403Leu) c.4169C>T (p.Pro1390Leu) c.4118C>T (p.Pro1373Leu) c.1250C>T (p.Pro417Leu) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
18 | g.33744135T>A | CA503770431 | ASXL3 | c.4290T>A (p.Pro1430=) c.4287T>A (p.Pro1429=) c.4167T>A (p.Pro1389=) c.4263T>A (p.Pro1421=) c.4209T>A (p.Pro1403=) c.4170T>A (p.Pro1390=) c.4119T>A (p.Pro1373=) c.1251T>A (p.Pro417=) | |
18 | g.33744135T>C | CA503770432 | ASXL3 | c.4290T>C (p.Pro1430=) c.4287T>C (p.Pro1429=) c.4167T>C (p.Pro1389=) c.4263T>C (p.Pro1421=) c.4209T>C (p.Pro1403=) c.4170T>C (p.Pro1390=) c.4119T>C (p.Pro1373=) c.1251T>C (p.Pro417=) | |
18 | g.33744135T>G | CA503770433 | ASXL3 | c.4290T>G (p.Pro1430=) c.4287T>G (p.Pro1429=) c.4167T>G (p.Pro1389=) c.4263T>G (p.Pro1421=) c.4209T>G (p.Pro1403=) c.4170T>G (p.Pro1390=) c.4119T>G (p.Pro1373=) c.1251T>G (p.Pro417=) | |
18 | g.33744136C>A | CA402190590 | ASXL3 | c.4291C>A (p.Pro1431Thr) c.4288C>A (p.Pro1430Thr) c.4168C>A (p.Pro1390Thr) c.4264C>A (p.Pro1422Thr) c.4210C>A (p.Pro1404Thr) c.4171C>A (p.Pro1391Thr) c.4120C>A (p.Pro1374Thr) c.1252C>A (p.Pro418Thr) | |
18 | g.33744136C>G | CA402190592 | ASXL3 | c.4291C>G (p.Pro1431Ala) c.4288C>G (p.Pro1430Ala) c.4168C>G (p.Pro1390Ala) c.4264C>G (p.Pro1422Ala) c.4210C>G (p.Pro1404Ala) c.4171C>G (p.Pro1391Ala) c.4120C>G (p.Pro1374Ala) c.1252C>G (p.Pro418Ala) | |
18 | g.33744136C>T | CA402190591 | ASXL3 | c.4291C>T (p.Pro1431Ser) c.4288C>T (p.Pro1430Ser) c.4168C>T (p.Pro1390Ser) c.4264C>T (p.Pro1422Ser) c.4210C>T (p.Pro1404Ser) c.4171C>T (p.Pro1391Ser) c.4120C>T (p.Pro1374Ser) c.1252C>T (p.Pro418Ser) | |
18 | g.33744137C>A | CA402190593 | ASXL3 | c.4292C>A (p.Pro1431His) c.4289C>A (p.Pro1430His) c.4169C>A (p.Pro1390His) c.4265C>A (p.Pro1422His) c.4211C>A (p.Pro1404His) c.4172C>A (p.Pro1391His) c.4121C>A (p.Pro1374His) c.1253C>A (p.Pro418His) | |
18 | g.33744137C= | CA2294858012 | ASXL3 | c.4292C= (p.Pro1431=) c.4289C= (p.Pro1430=) c.4169C= (p.Pro1390=) c.4265C= (p.Pro1422=) c.4211C= (p.Pro1404=) c.4172C= (p.Pro1391=) c.4121C= (p.Pro1374=) c.1253C= (p.Pro418=) | |
18 | g.33744137C>G | CA402190594 | ASXL3 | c.4292C>G (p.Pro1431Arg) c.4289C>G (p.Pro1430Arg) c.4169C>G (p.Pro1390Arg) c.4265C>G (p.Pro1422Arg) c.4211C>G (p.Pro1404Arg) c.4172C>G (p.Pro1391Arg) c.4121C>G (p.Pro1374Arg) c.1253C>G (p.Pro418Arg) | |
18 | g.33744137C>T | CA8934231 | ASXL3 | c.4292C>T (p.Pro1431Leu) c.4289C>T (p.Pro1430Leu) c.4169C>T (p.Pro1390Leu) c.4265C>T (p.Pro1422Leu) c.4211C>T (p.Pro1404Leu) c.4172C>T (p.Pro1391Leu) c.4121C>T (p.Pro1374Leu) c.1253C>T (p.Pro418Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744138C>A | CA503770444 | ASXL3 | c.4293C>A (p.Pro1431=) c.4290C>A (p.Pro1430=) c.4170C>A (p.Pro1390=) c.4266C>A (p.Pro1422=) c.4212C>A (p.Pro1404=) c.4173C>A (p.Pro1391=) c.4122C>A (p.Pro1374=) c.1254C>A (p.Pro418=) | |
18 | g.33744138C= | CA2294858013 | ASXL3 | c.4293C= (p.Pro1431=) c.4290C= (p.Pro1430=) c.4170C= (p.Pro1390=) c.4266C= (p.Pro1422=) c.4212C= (p.Pro1404=) c.4173C= (p.Pro1391=) c.4122C= (p.Pro1374=) c.1254C= (p.Pro418=) | |
18 | g.33744138C>G | CA503770446 | ASXL3 | c.4293C>G (p.Pro1431=) c.4290C>G (p.Pro1430=) c.4170C>G (p.Pro1390=) c.4266C>G (p.Pro1422=) c.4212C>G (p.Pro1404=) c.4173C>G (p.Pro1391=) c.4122C>G (p.Pro1374=) c.1254C>G (p.Pro418=) | |
18 | g.33744138C>T | CA8934232 | ASXL3 | c.4293C>T (p.Pro1431=) c.4290C>T (p.Pro1430=) c.4170C>T (p.Pro1390=) c.4266C>T (p.Pro1422=) c.4212C>T (p.Pro1404=) c.4173C>T (p.Pro1391=) c.4122C>T (p.Pro1374=) c.1254C>T (p.Pro418=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744139A>C | CA402190597 | ASXL3 | c.4294A>C (p.Lys1432Gln) c.4291A>C (p.Lys1431Gln) c.4171A>C (p.Lys1391Gln) c.4267A>C (p.Lys1423Gln) c.4213A>C (p.Lys1405Gln) c.4174A>C (p.Lys1392Gln) c.4123A>C (p.Lys1375Gln) c.1255A>C (p.Lys419Gln) | gnomAD v4 |
18 | g.33744139A>G | CA402190595 | ASXL3 | c.4294A>G (p.Lys1432Glu) c.4291A>G (p.Lys1431Glu) c.4171A>G (p.Lys1391Glu) c.4267A>G (p.Lys1423Glu) c.4213A>G (p.Lys1405Glu) c.4174A>G (p.Lys1392Glu) c.4123A>G (p.Lys1375Glu) c.1255A>G (p.Lys419Glu) | |
18 | g.33744139A>T | CA402190596 | ASXL3 | c.4294A>T (p.Lys1432Ter) c.4291A>T (p.Lys1431Ter) c.4171A>T (p.Lys1391Ter) c.4267A>T (p.Lys1423Ter) c.4213A>T (p.Lys1405Ter) c.4174A>T (p.Lys1392Ter) c.4123A>T (p.Lys1375Ter) c.1255A>T (p.Lys419Ter) | |
18 | g.33744140A>C | CA402190598 | ASXL3 | c.4295A>C (p.Lys1432Thr) c.4292A>C (p.Lys1431Thr) c.4172A>C (p.Lys1391Thr) c.4268A>C (p.Lys1423Thr) c.4214A>C (p.Lys1405Thr) c.4175A>C (p.Lys1392Thr) c.4124A>C (p.Lys1375Thr) c.1256A>C (p.Lys419Thr) | |
18 | g.33744140A>G | CA402190599 | ASXL3 | c.4295A>G (p.Lys1432Arg) c.4292A>G (p.Lys1431Arg) c.4172A>G (p.Lys1391Arg) c.4268A>G (p.Lys1423Arg) c.4214A>G (p.Lys1405Arg) c.4175A>G (p.Lys1392Arg) c.4124A>G (p.Lys1375Arg) c.1256A>G (p.Lys419Arg) | |
18 | g.33744140A>T | CA402190600 | ASXL3 | c.4295A>T (p.Lys1432Met) c.4292A>T (p.Lys1431Met) c.4172A>T (p.Lys1391Met) c.4268A>T (p.Lys1423Met) c.4214A>T (p.Lys1405Met) c.4175A>T (p.Lys1392Met) c.4124A>T (p.Lys1375Met) c.1256A>T (p.Lys419Met) | |
18 | g.33744141G>A | CA8934233 | ASXL3 | c.4296G>A (p.Lys1432=) c.4293G>A (p.Lys1431=) c.4173G>A (p.Lys1391=) c.4269G>A (p.Lys1423=) c.4215G>A (p.Lys1405=) c.4176G>A (p.Lys1392=) c.4125G>A (p.Lys1375=) c.1257G>A (p.Lys419=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744141G>C | CA402190601 | ASXL3 | c.4296G>C (p.Lys1432Asn) c.4293G>C (p.Lys1431Asn) c.4173G>C (p.Lys1391Asn) c.4269G>C (p.Lys1423Asn) c.4215G>C (p.Lys1405Asn) c.4176G>C (p.Lys1392Asn) c.4125G>C (p.Lys1375Asn) c.1257G>C (p.Lys419Asn) | |
18 | g.33744141G= | CA2294858014 | ASXL3 | c.4296G= (p.Lys1432=) c.4293G= (p.Lys1431=) c.4173G= (p.Lys1391=) c.4269G= (p.Lys1423=) c.4215G= (p.Lys1405=) c.4176G= (p.Lys1392=) c.4125G= (p.Lys1375=) c.1257G= (p.Lys419=) | |
18 | g.33744141G>T | CA402190602 | ASXL3 | c.4296G>T (p.Lys1432Asn) c.4293G>T (p.Lys1431Asn) c.4173G>T (p.Lys1391Asn) c.4269G>T (p.Lys1423Asn) c.4215G>T (p.Lys1405Asn) c.4176G>T (p.Lys1392Asn) c.4125G>T (p.Lys1375Asn) c.1257G>T (p.Lys419Asn) | |
18 | g.33744142T>A | CA402190603 | ASXL3 | c.4297T>A (p.Leu1433Ile) c.4294T>A (p.Leu1432Ile) c.4174T>A (p.Leu1392Ile) c.4270T>A (p.Leu1424Ile) c.4216T>A (p.Leu1406Ile) c.4177T>A (p.Leu1393Ile) c.4126T>A (p.Leu1376Ile) c.1258T>A (p.Leu420Ile) | |
18 | g.33744142T>C | CA503770457 | ASXL3 | c.4297T>C (p.Leu1433=) c.4294T>C (p.Leu1432=) c.4174T>C (p.Leu1392=) c.4270T>C (p.Leu1424=) c.4216T>C (p.Leu1406=) c.4177T>C (p.Leu1393=) c.4126T>C (p.Leu1376=) c.1258T>C (p.Leu420=) | |
18 | g.33744142T>G | CA402190604 | ASXL3 | c.4297T>G (p.Leu1433Val) c.4294T>G (p.Leu1432Val) c.4174T>G (p.Leu1392Val) c.4270T>G (p.Leu1424Val) c.4216T>G (p.Leu1406Val) c.4177T>G (p.Leu1393Val) c.4126T>G (p.Leu1376Val) c.1258T>G (p.Leu420Val) | |
18 | g.33744143T>A | CA402190605 | ASXL3 | c.4298T>A (p.Leu1433Ter) c.4295T>A (p.Leu1432Ter) c.4175T>A (p.Leu1392Ter) c.4271T>A (p.Leu1424Ter) c.4217T>A (p.Leu1406Ter) c.4178T>A (p.Leu1393Ter) c.4127T>A (p.Leu1376Ter) c.1259T>A (p.Leu420Ter) | |
18 | g.33744143T>C | CA402190606 | ASXL3 | c.4298T>C (p.Leu1433Ser) c.4295T>C (p.Leu1432Ser) c.4175T>C (p.Leu1392Ser) c.4271T>C (p.Leu1424Ser) c.4217T>C (p.Leu1406Ser) c.4178T>C (p.Leu1393Ser) c.4127T>C (p.Leu1376Ser) c.1259T>C (p.Leu420Ser) | |
18 | g.33744143T>G | CA402190607 | ASXL3 | c.4298T>G (p.Leu1433Ter) c.4295T>G (p.Leu1432Ter) c.4175T>G (p.Leu1392Ter) c.4271T>G (p.Leu1424Ter) c.4217T>G (p.Leu1406Ter) c.4178T>G (p.Leu1393Ter) c.4127T>G (p.Leu1376Ter) c.1259T>G (p.Leu420Ter) | |
18 | g.33744144A>C | CA402190608 | ASXL3 | c.4299A>C (p.Leu1433Phe) c.4296A>C (p.Leu1432Phe) c.4176A>C (p.Leu1392Phe) c.4272A>C (p.Leu1424Phe) c.4218A>C (p.Leu1406Phe) c.4179A>C (p.Leu1393Phe) c.4128A>C (p.Leu1376Phe) c.1260A>C (p.Leu420Phe) | |
18 | g.33744144A>G | CA503770464 | ASXL3 | c.4299A>G (p.Leu1433=) c.4296A>G (p.Leu1432=) c.4176A>G (p.Leu1392=) c.4272A>G (p.Leu1424=) c.4218A>G (p.Leu1406=) c.4179A>G (p.Leu1393=) c.4128A>G (p.Leu1376=) c.1260A>G (p.Leu420=) | gnomAD v4 |
18 | g.33744144A>T | CA402190609 | ASXL3 | c.4299A>T (p.Leu1433Phe) c.4296A>T (p.Leu1432Phe) c.4176A>T (p.Leu1392Phe) c.4272A>T (p.Leu1424Phe) c.4218A>T (p.Leu1406Phe) c.4179A>T (p.Leu1393Phe) c.4128A>T (p.Leu1376Phe) c.1260A>T (p.Leu420Phe) | |
18 | g.33744145A>C | CA402190610 | ASXL3 | c.4300A>C (p.Ser1434Arg) c.4297A>C (p.Ser1433Arg) c.4177A>C (p.Ser1393Arg) c.4273A>C (p.Ser1425Arg) c.4219A>C (p.Ser1407Arg) c.4180A>C (p.Ser1394Arg) c.4129A>C (p.Ser1377Arg) c.1261A>C (p.Ser421Arg) | |
18 | g.33744145A>G | CA402190611 | ASXL3 | c.4300A>G (p.Ser1434Gly) c.4297A>G (p.Ser1433Gly) c.4177A>G (p.Ser1393Gly) c.4273A>G (p.Ser1425Gly) c.4219A>G (p.Ser1407Gly) c.4180A>G (p.Ser1394Gly) c.4129A>G (p.Ser1377Gly) c.1261A>G (p.Ser421Gly) | |
18 | g.33744145A>T | CA402190612 | ASXL3 | c.4300A>T (p.Ser1434Cys) c.4297A>T (p.Ser1433Cys) c.4177A>T (p.Ser1393Cys) c.4273A>T (p.Ser1425Cys) c.4219A>T (p.Ser1407Cys) c.4180A>T (p.Ser1394Cys) c.4129A>T (p.Ser1377Cys) c.1261A>T (p.Ser421Cys) | |
18 | g.33744146G>A | CA402190613 | ASXL3 | c.4301G>A (p.Ser1434Asn) c.4298G>A (p.Ser1433Asn) c.4178G>A (p.Ser1393Asn) c.4274G>A (p.Ser1425Asn) c.4220G>A (p.Ser1407Asn) c.4181G>A (p.Ser1394Asn) c.4130G>A (p.Ser1377Asn) c.1262G>A (p.Ser421Asn) | dbSNP gnomAD v2 |
18 | g.33744146G>C | CA402190614 | ASXL3 | c.4301G>C (p.Ser1434Thr) c.4298G>C (p.Ser1433Thr) c.4178G>C (p.Ser1393Thr) c.4274G>C (p.Ser1425Thr) c.4220G>C (p.Ser1407Thr) c.4181G>C (p.Ser1394Thr) c.4130G>C (p.Ser1377Thr) c.1262G>C (p.Ser421Thr) | gnomAD v4 |
18 | g.33744146G= | CA2294858015 | ASXL3 | c.4301G= (p.Ser1434=) c.4298G= (p.Ser1433=) c.4178G= (p.Ser1393=) c.4274G= (p.Ser1425=) c.4220G= (p.Ser1407=) c.4181G= (p.Ser1394=) c.4130G= (p.Ser1377=) c.1262G= (p.Ser421=) | |
18 | g.33744146G>T | CA402190615 | ASXL3 | c.4301G>T (p.Ser1434Ile) c.4298G>T (p.Ser1433Ile) c.4178G>T (p.Ser1393Ile) c.4274G>T (p.Ser1425Ile) c.4220G>T (p.Ser1407Ile) c.4181G>T (p.Ser1394Ile) c.4130G>T (p.Ser1377Ile) c.1262G>T (p.Ser421Ile) | |
18 | g.33744147T>A | CA402190616 | ASXL3 | c.4302T>A (p.Ser1434Arg) c.4299T>A (p.Ser1433Arg) c.4179T>A (p.Ser1393Arg) c.4275T>A (p.Ser1425Arg) c.4221T>A (p.Ser1407Arg) c.4182T>A (p.Ser1394Arg) c.4131T>A (p.Ser1377Arg) c.1263T>A (p.Ser421Arg) | |
18 | g.33744147T>C | CA503770473 | ASXL3 | c.4302T>C (p.Ser1434=) c.4299T>C (p.Ser1433=) c.4179T>C (p.Ser1393=) c.4275T>C (p.Ser1425=) c.4221T>C (p.Ser1407=) c.4182T>C (p.Ser1394=) c.4131T>C (p.Ser1377=) c.1263T>C (p.Ser421=) | |
18 | g.33744147T>G | CA402190617 | ASXL3 | c.4302T>G (p.Ser1434Arg) c.4299T>G (p.Ser1433Arg) c.4179T>G (p.Ser1393Arg) c.4275T>G (p.Ser1425Arg) c.4221T>G (p.Ser1407Arg) c.4182T>G (p.Ser1394Arg) c.4131T>G (p.Ser1377Arg) c.1263T>G (p.Ser421Arg) | |
18 | g.33744148G>A | CA402190618 | ASXL3 | c.4303G>A (p.Ala1435Thr) c.4300G>A (p.Ala1434Thr) c.4180G>A (p.Ala1394Thr) c.4276G>A (p.Ala1426Thr) c.4222G>A (p.Ala1408Thr) c.4183G>A (p.Ala1395Thr) c.4132G>A (p.Ala1378Thr) c.1264G>A (p.Ala422Thr) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33744148G>C | CA402190619 | ASXL3 | c.4303G>C (p.Ala1435Pro) c.4300G>C (p.Ala1434Pro) c.4180G>C (p.Ala1394Pro) c.4276G>C (p.Ala1426Pro) c.4222G>C (p.Ala1408Pro) c.4183G>C (p.Ala1395Pro) c.4132G>C (p.Ala1378Pro) c.1264G>C (p.Ala422Pro) | |
18 | g.33744148G= | CA2294858016 | ASXL3 | c.4303G= (p.Ala1435=) c.4300G= (p.Ala1434=) c.4180G= (p.Ala1394=) c.4276G= (p.Ala1426=) c.4222G= (p.Ala1408=) c.4183G= (p.Ala1395=) c.4132G= (p.Ala1378=) c.1264G= (p.Ala422=) | |
18 | g.33744148G>T | CA402190620 | ASXL3 | c.4303G>T (p.Ala1435Ser) c.4300G>T (p.Ala1434Ser) c.4180G>T (p.Ala1394Ser) c.4276G>T (p.Ala1426Ser) c.4222G>T (p.Ala1408Ser) c.4183G>T (p.Ala1395Ser) c.4132G>T (p.Ala1378Ser) c.1264G>T (p.Ala422Ser) | |
18 | g.33744149C>A | CA402190623 | ASXL3 | c.4304C>A (p.Ala1435Asp) c.4301C>A (p.Ala1434Asp) c.4181C>A (p.Ala1394Asp) c.4277C>A (p.Ala1426Asp) c.4223C>A (p.Ala1408Asp) c.4184C>A (p.Ala1395Asp) c.4133C>A (p.Ala1378Asp) c.1265C>A (p.Ala422Asp) | |
18 | g.33744149C>G | CA402190622 | ASXL3 | c.4304C>G (p.Ala1435Gly) c.4301C>G (p.Ala1434Gly) c.4181C>G (p.Ala1394Gly) c.4277C>G (p.Ala1426Gly) c.4223C>G (p.Ala1408Gly) c.4184C>G (p.Ala1395Gly) c.4133C>G (p.Ala1378Gly) c.1265C>G (p.Ala422Gly) | |
18 | g.33744149C>T | CA402190621 | ASXL3 | c.4304C>T (p.Ala1435Val) c.4301C>T (p.Ala1434Val) c.4181C>T (p.Ala1394Val) c.4277C>T (p.Ala1426Val) c.4223C>T (p.Ala1408Val) c.4184C>T (p.Ala1395Val) c.4133C>T (p.Ala1378Val) c.1265C>T (p.Ala422Val) | |
18 | g.33744150T>A | CA503770479 | ASXL3 | c.4305T>A (p.Ala1435=) c.4302T>A (p.Ala1434=) c.4182T>A (p.Ala1394=) c.4278T>A (p.Ala1426=) c.4224T>A (p.Ala1408=) c.4185T>A (p.Ala1395=) c.4134T>A (p.Ala1378=) c.1266T>A (p.Ala422=) | gnomAD v4 |
18 | g.33744150T>C | CA503770481 | ASXL3 | c.4305T>C (p.Ala1435=) c.4302T>C (p.Ala1434=) c.4182T>C (p.Ala1394=) c.4278T>C (p.Ala1426=) c.4224T>C (p.Ala1408=) c.4185T>C (p.Ala1395=) c.4134T>C (p.Ala1378=) c.1266T>C (p.Ala422=) | gnomAD v4 |
18 | g.33744150T>G | CA503770482 | ASXL3 | c.4305T>G (p.Ala1435=) c.4302T>G (p.Ala1434=) c.4182T>G (p.Ala1394=) c.4278T>G (p.Ala1426=) c.4224T>G (p.Ala1408=) c.4185T>G (p.Ala1395=) c.4134T>G (p.Ala1378=) c.1266T>G (p.Ala422=) | |
18 | g.33744151G>A | CA8934234 | ASXL3 | c.4306G>A (p.Glu1436Lys) c.4303G>A (p.Glu1435Lys) c.4183G>A (p.Glu1395Lys) c.4279G>A (p.Glu1427Lys) c.4225G>A (p.Glu1409Lys) c.4186G>A (p.Glu1396Lys) c.4135G>A (p.Glu1379Lys) c.1267G>A (p.Glu423Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744151G>C | CA402190624 | ASXL3 | c.4306G>C (p.Glu1436Gln) c.4303G>C (p.Glu1435Gln) c.4183G>C (p.Glu1395Gln) c.4279G>C (p.Glu1427Gln) c.4225G>C (p.Glu1409Gln) c.4186G>C (p.Glu1396Gln) c.4135G>C (p.Glu1379Gln) c.1267G>C (p.Glu423Gln) | |
18 | g.33744151G= | CA2294858017 | ASXL3 | c.4306G= (p.Glu1436=) c.4303G= (p.Glu1435=) c.4183G= (p.Glu1395=) c.4279G= (p.Glu1427=) c.4225G= (p.Glu1409=) c.4186G= (p.Glu1396=) c.4135G= (p.Glu1379=) c.1267G= (p.Glu423=) | |
18 | g.33744151G>T | CA402190625 | ASXL3 | c.4306G>T (p.Glu1436Ter) c.4303G>T (p.Glu1435Ter) c.4183G>T (p.Glu1395Ter) c.4279G>T (p.Glu1427Ter) c.4225G>T (p.Glu1409Ter) c.4186G>T (p.Glu1396Ter) c.4135G>T (p.Glu1379Ter) c.1267G>T (p.Glu423Ter) | |
18 | g.33744152A>C | CA402190626 | ASXL3 | c.4307A>C (p.Glu1436Ala) c.4304A>C (p.Glu1435Ala) c.4184A>C (p.Glu1395Ala) c.4280A>C (p.Glu1427Ala) c.4226A>C (p.Glu1409Ala) c.4187A>C (p.Glu1396Ala) c.4136A>C (p.Glu1379Ala) c.1268A>C (p.Glu423Ala) | |
18 | g.33744152A>G | CA402190627 | ASXL3 | c.4307A>G (p.Glu1436Gly) c.4304A>G (p.Glu1435Gly) c.4184A>G (p.Glu1395Gly) c.4280A>G (p.Glu1427Gly) c.4226A>G (p.Glu1409Gly) c.4187A>G (p.Glu1396Gly) c.4136A>G (p.Glu1379Gly) c.1268A>G (p.Glu423Gly) | |
18 | g.33744152A>T | CA402190628 | ASXL3 | c.4307A>T (p.Glu1436Val) c.4304A>T (p.Glu1435Val) c.4184A>T (p.Glu1395Val) c.4280A>T (p.Glu1427Val) c.4226A>T (p.Glu1409Val) c.4187A>T (p.Glu1396Val) c.4136A>T (p.Glu1379Val) c.1268A>T (p.Glu423Val) | |
18 | g.33744153A>C | CA402190629 | ASXL3 | c.4308A>C (p.Glu1436Asp) c.4305A>C (p.Glu1435Asp) c.4185A>C (p.Glu1395Asp) c.4281A>C (p.Glu1427Asp) c.4227A>C (p.Glu1409Asp) c.4188A>C (p.Glu1396Asp) c.4137A>C (p.Glu1379Asp) c.1269A>C (p.Glu423Asp) | |
18 | g.33744153A>G | CA503770489 | ASXL3 | c.4308A>G (p.Glu1436=) c.4305A>G (p.Glu1435=) c.4185A>G (p.Glu1395=) c.4281A>G (p.Glu1427=) c.4227A>G (p.Glu1409=) c.4188A>G (p.Glu1396=) c.4137A>G (p.Glu1379=) c.1269A>G (p.Glu423=) | |
18 | g.33744153A>T | CA402190630 | ASXL3 | c.4308A>T (p.Glu1436Asp) c.4305A>T (p.Glu1435Asp) c.4185A>T (p.Glu1395Asp) c.4281A>T (p.Glu1427Asp) c.4227A>T (p.Glu1409Asp) c.4188A>T (p.Glu1396Asp) c.4137A>T (p.Glu1379Asp) c.1269A>T (p.Glu423Asp) | |
18 | g.33744154A>C | CA402190631 | ASXL3 | c.4309A>C (p.Ser1437Arg) c.4306A>C (p.Ser1436Arg) c.4186A>C (p.Ser1396Arg) c.4282A>C (p.Ser1428Arg) c.4228A>C (p.Ser1410Arg) c.4189A>C (p.Ser1397Arg) c.4138A>C (p.Ser1380Arg) c.1270A>C (p.Ser424Arg) | |
18 | g.33744154A>G | CA402190632 | ASXL3 | c.4309A>G (p.Ser1437Gly) c.4306A>G (p.Ser1436Gly) c.4186A>G (p.Ser1396Gly) c.4282A>G (p.Ser1428Gly) c.4228A>G (p.Ser1410Gly) c.4189A>G (p.Ser1397Gly) c.4138A>G (p.Ser1380Gly) c.1270A>G (p.Ser424Gly) | |
18 | g.33744154A>T | CA402190633 | ASXL3 | c.4309A>T (p.Ser1437Cys) c.4306A>T (p.Ser1436Cys) c.4186A>T (p.Ser1396Cys) c.4282A>T (p.Ser1428Cys) c.4228A>T (p.Ser1410Cys) c.4189A>T (p.Ser1397Cys) c.4138A>T (p.Ser1380Cys) c.1270A>T (p.Ser424Cys) | |
18 | g.33744155G>A | CA402190636 | ASXL3 | c.4310G>A (p.Ser1437Asn) c.4307G>A (p.Ser1436Asn) c.4187G>A (p.Ser1396Asn) c.4283G>A (p.Ser1428Asn) c.4229G>A (p.Ser1410Asn) c.4190G>A (p.Ser1397Asn) c.4139G>A (p.Ser1380Asn) c.1271G>A (p.Ser424Asn) | gnomAD v4 |
18 | g.33744155G>C | CA402190635 | ASXL3 | c.4310G>C (p.Ser1437Thr) c.4307G>C (p.Ser1436Thr) c.4187G>C (p.Ser1396Thr) c.4283G>C (p.Ser1428Thr) c.4229G>C (p.Ser1410Thr) c.4190G>C (p.Ser1397Thr) c.4139G>C (p.Ser1380Thr) c.1271G>C (p.Ser424Thr) | |
18 | g.33744155G>T | CA402190634 | ASXL3 | c.4310G>T (p.Ser1437Ile) c.4307G>T (p.Ser1436Ile) c.4187G>T (p.Ser1396Ile) c.4283G>T (p.Ser1428Ile) c.4229G>T (p.Ser1410Ile) c.4190G>T (p.Ser1397Ile) c.4139G>T (p.Ser1380Ile) c.1271G>T (p.Ser424Ile) | |
18 | g.33744156C>A | CA402190637 | ASXL3 | c.4311C>A (p.Ser1437Arg) c.4308C>A (p.Ser1436Arg) c.4188C>A (p.Ser1396Arg) c.4284C>A (p.Ser1428Arg) c.4230C>A (p.Ser1410Arg) c.4191C>A (p.Ser1397Arg) c.4140C>A (p.Ser1380Arg) c.1272C>A (p.Ser424Arg) | |
18 | g.33744156C>G | CA402190638 | ASXL3 | c.4311C>G (p.Ser1437Arg) c.4308C>G (p.Ser1436Arg) c.4188C>G (p.Ser1396Arg) c.4284C>G (p.Ser1428Arg) c.4230C>G (p.Ser1410Arg) c.4191C>G (p.Ser1397Arg) c.4140C>G (p.Ser1380Arg) c.1272C>G (p.Ser424Arg) | |
18 | g.33744156C>T | CA503770495 | ASXL3 | c.4311C>T (p.Ser1437=) c.4308C>T (p.Ser1436=) c.4188C>T (p.Ser1396=) c.4284C>T (p.Ser1428=) c.4230C>T (p.Ser1410=) c.4191C>T (p.Ser1397=) c.4140C>T (p.Ser1380=) c.1272C>T (p.Ser424=) | |
18 | g.33744157T>A | CA402190639 | ASXL3 | c.4312T>A (p.Leu1438Met) c.4309T>A (p.Leu1437Met) c.4189T>A (p.Leu1397Met) c.4285T>A (p.Leu1429Met) c.4231T>A (p.Leu1411Met) c.4192T>A (p.Leu1398Met) c.4141T>A (p.Leu1381Met) c.1273T>A (p.Leu425Met) | |
18 | g.33744157T>C | CA503770498 | ASXL3 | c.4312T>C (p.Leu1438=) c.4309T>C (p.Leu1437=) c.4189T>C (p.Leu1397=) c.4285T>C (p.Leu1429=) c.4231T>C (p.Leu1411=) c.4192T>C (p.Leu1398=) c.4141T>C (p.Leu1381=) c.1273T>C (p.Leu425=) | |
18 | g.33744157T>G | CA402190640 | ASXL3 | c.4312T>G (p.Leu1438Val) c.4309T>G (p.Leu1437Val) c.4189T>G (p.Leu1397Val) c.4285T>G (p.Leu1429Val) c.4231T>G (p.Leu1411Val) c.4192T>G (p.Leu1398Val) c.4141T>G (p.Leu1381Val) c.1273T>G (p.Leu425Val) | |
18 | g.33744158T>A | CA402190641 | ASXL3 | c.4313T>A (p.Leu1438Ter) c.4310T>A (p.Leu1437Ter) c.4190T>A (p.Leu1397Ter) c.4286T>A (p.Leu1429Ter) c.4232T>A (p.Leu1411Ter) c.4193T>A (p.Leu1398Ter) c.4142T>A (p.Leu1381Ter) c.1274T>A (p.Leu425Ter) | |
18 | g.33744158T>C | CA402190642 | ASXL3 | c.4313T>C (p.Leu1438Ser) c.4310T>C (p.Leu1437Ser) c.4190T>C (p.Leu1397Ser) c.4286T>C (p.Leu1429Ser) c.4232T>C (p.Leu1411Ser) c.4193T>C (p.Leu1398Ser) c.4142T>C (p.Leu1381Ser) c.1274T>C (p.Leu425Ser) | |
18 | g.33744158T>G | CA402190643 | ASXL3 | c.4313T>G (p.Leu1438Trp) c.4310T>G (p.Leu1437Trp) c.4190T>G (p.Leu1397Trp) c.4286T>G (p.Leu1429Trp) c.4232T>G (p.Leu1411Trp) c.4193T>G (p.Leu1398Trp) c.4142T>G (p.Leu1381Trp) c.1274T>G (p.Leu425Trp) | gnomAD v4 |
18 | g.33744159G>A | CA503770503 | ASXL3 | c.4314G>A (p.Leu1438=) c.4311G>A (p.Leu1437=) c.4191G>A (p.Leu1397=) c.4287G>A (p.Leu1429=) c.4233G>A (p.Leu1411=) c.4194G>A (p.Leu1398=) c.4143G>A (p.Leu1381=) c.1275G>A (p.Leu425=) | |
18 | g.33744159G>C | CA402190644 | ASXL3 | c.4314G>C (p.Leu1438Phe) c.4311G>C (p.Leu1437Phe) c.4191G>C (p.Leu1397Phe) c.4287G>C (p.Leu1429Phe) c.4233G>C (p.Leu1411Phe) c.4194G>C (p.Leu1398Phe) c.4143G>C (p.Leu1381Phe) c.1275G>C (p.Leu425Phe) | |
18 | g.33744159G>T | CA402190645 | ASXL3 | c.4314G>T (p.Leu1438Phe) c.4311G>T (p.Leu1437Phe) c.4191G>T (p.Leu1397Phe) c.4287G>T (p.Leu1429Phe) c.4233G>T (p.Leu1411Phe) c.4194G>T (p.Leu1398Phe) c.4143G>T (p.Leu1381Phe) c.1275G>T (p.Leu425Phe) | dbSNP gnomAD v4 |
18 | g.33744160G>A | CA402190646 | ASXL3 | c.4315G>A (p.Asp1439Asn) c.4312G>A (p.Asp1438Asn) c.4192G>A (p.Asp1398Asn) c.4288G>A (p.Asp1430Asn) c.4234G>A (p.Asp1412Asn) c.4195G>A (p.Asp1399Asn) c.4144G>A (p.Asp1382Asn) c.1276G>A (p.Asp426Asn) | |
18 | g.33744160G>C | CA402190647 | ASXL3 | c.4315G>C (p.Asp1439His) c.4312G>C (p.Asp1438His) c.4192G>C (p.Asp1398His) c.4288G>C (p.Asp1430His) c.4234G>C (p.Asp1412His) c.4195G>C (p.Asp1399His) c.4144G>C (p.Asp1382His) c.1276G>C (p.Asp426His) | gnomAD v4 |
18 | g.33744160G>T | CA402190648 | ASXL3 | c.4315G>T (p.Asp1439Tyr) c.4312G>T (p.Asp1438Tyr) c.4192G>T (p.Asp1398Tyr) c.4288G>T (p.Asp1430Tyr) c.4234G>T (p.Asp1412Tyr) c.4195G>T (p.Asp1399Tyr) c.4144G>T (p.Asp1382Tyr) c.1276G>T (p.Asp426Tyr) | |
18 | g.33744161A>C | CA402190651 | ASXL3 | c.4316A>C (p.Asp1439Ala) c.4313A>C (p.Asp1438Ala) c.4193A>C (p.Asp1398Ala) c.4289A>C (p.Asp1430Ala) c.4235A>C (p.Asp1412Ala) c.4196A>C (p.Asp1399Ala) c.4145A>C (p.Asp1382Ala) c.1277A>C (p.Asp426Ala) | |
18 | g.33744161A>G | CA402190650 | ASXL3 | c.4316A>G (p.Asp1439Gly) c.4313A>G (p.Asp1438Gly) c.4193A>G (p.Asp1398Gly) c.4289A>G (p.Asp1430Gly) c.4235A>G (p.Asp1412Gly) c.4196A>G (p.Asp1399Gly) c.4145A>G (p.Asp1382Gly) c.1277A>G (p.Asp426Gly) | |
18 | g.33744161A>T | CA402190649 | ASXL3 | c.4316A>T (p.Asp1439Val) c.4313A>T (p.Asp1438Val) c.4193A>T (p.Asp1398Val) c.4289A>T (p.Asp1430Val) c.4235A>T (p.Asp1412Val) c.4196A>T (p.Asp1399Val) c.4145A>T (p.Asp1382Val) c.1277A>T (p.Asp426Val) | |
18 | g.33744162C>A | CA402190652 | ASXL3 | c.4317C>A (p.Asp1439Glu) c.4314C>A (p.Asp1438Glu) c.4194C>A (p.Asp1398Glu) c.4290C>A (p.Asp1430Glu) c.4236C>A (p.Asp1412Glu) c.4197C>A (p.Asp1399Glu) c.4146C>A (p.Asp1382Glu) c.1278C>A (p.Asp426Glu) | |
18 | g.33744162C>G | CA402190653 | ASXL3 | c.4317C>G (p.Asp1439Glu) c.4314C>G (p.Asp1438Glu) c.4194C>G (p.Asp1398Glu) c.4290C>G (p.Asp1430Glu) c.4236C>G (p.Asp1412Glu) c.4197C>G (p.Asp1399Glu) c.4146C>G (p.Asp1382Glu) c.1278C>G (p.Asp426Glu) | |
18 | g.33744162C>T | CA503770508 | ASXL3 | c.4317C>T (p.Asp1439=) c.4314C>T (p.Asp1438=) c.4194C>T (p.Asp1398=) c.4290C>T (p.Asp1430=) c.4236C>T (p.Asp1412=) c.4197C>T (p.Asp1399=) c.4146C>T (p.Asp1382=) c.1278C>T (p.Asp426=) | |
18 | g.33744163A>C | CA402190654 | ASXL3 | c.4318A>C (p.Lys1440Gln) c.4315A>C (p.Lys1439Gln) c.4195A>C (p.Lys1399Gln) c.4291A>C (p.Lys1431Gln) c.4237A>C (p.Lys1413Gln) c.4198A>C (p.Lys1400Gln) c.4147A>C (p.Lys1383Gln) c.1279A>C (p.Lys427Gln) | |
18 | g.33744163A>G | CA402190655 | ASXL3 | c.4318A>G (p.Lys1440Glu) c.4315A>G (p.Lys1439Glu) c.4195A>G (p.Lys1399Glu) c.4291A>G (p.Lys1431Glu) c.4237A>G (p.Lys1413Glu) c.4198A>G (p.Lys1400Glu) c.4147A>G (p.Lys1383Glu) c.1279A>G (p.Lys427Glu) | |
18 | g.33744163A>T | CA402190656 | ASXL3 | c.4318A>T (p.Lys1440Ter) c.4315A>T (p.Lys1439Ter) c.4195A>T (p.Lys1399Ter) c.4291A>T (p.Lys1431Ter) c.4237A>T (p.Lys1413Ter) c.4198A>T (p.Lys1400Ter) c.4147A>T (p.Lys1383Ter) c.1279A>T (p.Lys427Ter) | |
18 | g.33744164A= | CA2294858018 | ASXL3 | c.4319A= (p.Lys1440=) c.4316A= (p.Lys1439=) c.4196A= (p.Lys1399=) c.4292A= (p.Lys1431=) c.4238A= (p.Lys1413=) c.4199A= (p.Lys1400=) c.4148A= (p.Lys1383=) c.1280A= (p.Lys427=) | |
18 | g.33744164A>C | CA8934235 | ASXL3 | c.4319A>C (p.Lys1440Thr) c.4316A>C (p.Lys1439Thr) c.4196A>C (p.Lys1399Thr) c.4292A>C (p.Lys1431Thr) c.4238A>C (p.Lys1413Thr) c.4199A>C (p.Lys1400Thr) c.4148A>C (p.Lys1383Thr) c.1280A>C (p.Lys427Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744164A>G | CA402190657 | ASXL3 | c.4319A>G (p.Lys1440Arg) c.4316A>G (p.Lys1439Arg) c.4196A>G (p.Lys1399Arg) c.4292A>G (p.Lys1431Arg) c.4238A>G (p.Lys1413Arg) c.4199A>G (p.Lys1400Arg) c.4148A>G (p.Lys1383Arg) c.1280A>G (p.Lys427Arg) | |
18 | g.33744164A>T | CA402190658 | ASXL3 | c.4319A>T (p.Lys1440Ile) c.4316A>T (p.Lys1439Ile) c.4196A>T (p.Lys1399Ile) c.4292A>T (p.Lys1431Ile) c.4238A>T (p.Lys1413Ile) c.4199A>T (p.Lys1400Ile) c.4148A>T (p.Lys1383Ile) c.1280A>T (p.Lys427Ile) | |
18 | g.33744165A>C | CA402190659 | ASXL3 | c.4320A>C (p.Lys1440Asn) c.4317A>C (p.Lys1439Asn) c.4197A>C (p.Lys1399Asn) c.4293A>C (p.Lys1431Asn) c.4239A>C (p.Lys1413Asn) c.4200A>C (p.Lys1400Asn) c.4149A>C (p.Lys1383Asn) c.1281A>C (p.Lys427Asn) | |
18 | g.33744165A>G | CA503770512 | ASXL3 | c.4320A>G (p.Lys1440=) c.4317A>G (p.Lys1439=) c.4197A>G (p.Lys1399=) c.4293A>G (p.Lys1431=) c.4239A>G (p.Lys1413=) c.4200A>G (p.Lys1400=) c.4149A>G (p.Lys1383=) c.1281A>G (p.Lys427=) | |
18 | g.33744165A>T | CA402190660 | ASXL3 | c.4320A>T (p.Lys1440Asn) c.4317A>T (p.Lys1439Asn) c.4197A>T (p.Lys1399Asn) c.4293A>T (p.Lys1431Asn) c.4239A>T (p.Lys1413Asn) c.4200A>T (p.Lys1400Asn) c.4149A>T (p.Lys1383Asn) c.1281A>T (p.Lys427Asn) | |
18 | g.33744166A>C | CA402190661 | ASXL3 | c.4321A>C (p.Asn1441His) c.4318A>C (p.Asn1440His) c.4198A>C (p.Asn1400His) c.4294A>C (p.Asn1432His) c.4240A>C (p.Asn1414His) c.4201A>C (p.Asn1401His) c.4150A>C (p.Asn1384His) c.1282A>C (p.Asn428His) | |
18 | g.33744166A>G | CA402190662 | ASXL3 | c.4321A>G (p.Asn1441Asp) c.4318A>G (p.Asn1440Asp) c.4198A>G (p.Asn1400Asp) c.4294A>G (p.Asn1432Asp) c.4240A>G (p.Asn1414Asp) c.4201A>G (p.Asn1401Asp) c.4150A>G (p.Asn1384Asp) c.1282A>G (p.Asn428Asp) | |
18 | g.33744166A>T | CA402190663 | ASXL3 | c.4321A>T (p.Asn1441Tyr) c.4318A>T (p.Asn1440Tyr) c.4198A>T (p.Asn1400Tyr) c.4294A>T (p.Asn1432Tyr) c.4240A>T (p.Asn1414Tyr) c.4201A>T (p.Asn1401Tyr) c.4150A>T (p.Asn1384Tyr) c.1282A>T (p.Asn428Tyr) | |
18 | g.33744167A= | CA2294858019 | ASXL3 | c.4322A= (p.Asn1441=) c.4319A= (p.Asn1440=) c.4199A= (p.Asn1400=) c.4295A= (p.Asn1432=) c.4241A= (p.Asn1414=) c.4202A= (p.Asn1401=) c.4151A= (p.Asn1384=) c.1283A= (p.Asn428=) | |
18 | g.33744167A>C | CA402190665 | ASXL3 | c.4322A>C (p.Asn1441Thr) c.4319A>C (p.Asn1440Thr) c.4199A>C (p.Asn1400Thr) c.4295A>C (p.Asn1432Thr) c.4241A>C (p.Asn1414Thr) c.4202A>C (p.Asn1401Thr) c.4151A>C (p.Asn1384Thr) c.1283A>C (p.Asn428Thr) | |
18 | g.33744167A>G | CA8934236 | ASXL3 | c.4322A>G (p.Asn1441Ser) c.4319A>G (p.Asn1440Ser) c.4199A>G (p.Asn1400Ser) c.4295A>G (p.Asn1432Ser) c.4241A>G (p.Asn1414Ser) c.4202A>G (p.Asn1401Ser) c.4151A>G (p.Asn1384Ser) c.1283A>G (p.Asn428Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744167A>T | CA402190664 | ASXL3 | c.4322A>T (p.Asn1441Ile) c.4319A>T (p.Asn1440Ile) c.4199A>T (p.Asn1400Ile) c.4295A>T (p.Asn1432Ile) c.4241A>T (p.Asn1414Ile) c.4202A>T (p.Asn1401Ile) c.4151A>T (p.Asn1384Ile) c.1283A>T (p.Asn428Ile) | |
18 | g.33744168T>A | CA402190666 | ASXL3 | c.4323T>A (p.Asn1441Lys) c.4320T>A (p.Asn1440Lys) c.4200T>A (p.Asn1400Lys) c.4296T>A (p.Asn1432Lys) c.4242T>A (p.Asn1414Lys) c.4203T>A (p.Asn1401Lys) c.4152T>A (p.Asn1384Lys) c.1284T>A (p.Asn428Lys) | |
18 | g.33744168T>C | CA503770517 | ASXL3 | c.4323T>C (p.Asn1441=) c.4320T>C (p.Asn1440=) c.4200T>C (p.Asn1400=) c.4296T>C (p.Asn1432=) c.4242T>C (p.Asn1414=) c.4203T>C (p.Asn1401=) c.4152T>C (p.Asn1384=) c.1284T>C (p.Asn428=) | |
18 | g.33744168T>G | CA402190667 | ASXL3 | c.4323T>G (p.Asn1441Lys) c.4320T>G (p.Asn1440Lys) c.4200T>G (p.Asn1400Lys) c.4296T>G (p.Asn1432Lys) c.4242T>G (p.Asn1414Lys) c.4203T>G (p.Asn1401Lys) c.4152T>G (p.Asn1384Lys) c.1284T>G (p.Asn428Lys) | |
18 | g.33744169T>A | CA402190668 | ASXL3 | c.4324T>A (p.Ser1442Thr) c.4321T>A (p.Ser1441Thr) c.4201T>A (p.Ser1401Thr) c.4297T>A (p.Ser1433Thr) c.4243T>A (p.Ser1415Thr) c.4204T>A (p.Ser1402Thr) c.4153T>A (p.Ser1385Thr) c.1285T>A (p.Ser429Thr) | |
18 | g.33744169T>C | CA402190669 | ASXL3 | c.4324T>C (p.Ser1442Pro) c.4321T>C (p.Ser1441Pro) c.4201T>C (p.Ser1401Pro) c.4297T>C (p.Ser1433Pro) c.4243T>C (p.Ser1415Pro) c.4204T>C (p.Ser1402Pro) c.4153T>C (p.Ser1385Pro) c.1285T>C (p.Ser429Pro) | |
18 | g.33744169T>G | CA402190670 | ASXL3 | c.4324T>G (p.Ser1442Ala) c.4321T>G (p.Ser1441Ala) c.4201T>G (p.Ser1401Ala) c.4297T>G (p.Ser1433Ala) c.4243T>G (p.Ser1415Ala) c.4204T>G (p.Ser1402Ala) c.4153T>G (p.Ser1385Ala) c.1285T>G (p.Ser429Ala) | |
18 | g.33744170C>A | CA402190671 | ASXL3 | c.4325C>A (p.Ser1442Ter) c.4322C>A (p.Ser1441Ter) c.4202C>A (p.Ser1401Ter) c.4298C>A (p.Ser1433Ter) c.4244C>A (p.Ser1415Ter) c.4205C>A (p.Ser1402Ter) c.4154C>A (p.Ser1385Ter) c.1286C>A (p.Ser429Ter) | |
18 | g.33744170C= | CA2294858020 | ASXL3 | c.4325C= (p.Ser1442=) c.4322C= (p.Ser1441=) c.4202C= (p.Ser1401=) c.4298C= (p.Ser1433=) c.4244C= (p.Ser1415=) c.4205C= (p.Ser1402=) c.4154C= (p.Ser1385=) c.1286C= (p.Ser429=) | |
18 | g.33744170C>G | CA402190672 | ASXL3 | c.4325C>G (p.Ser1442Ter) c.4322C>G (p.Ser1441Ter) c.4202C>G (p.Ser1401Ter) c.4298C>G (p.Ser1433Ter) c.4244C>G (p.Ser1415Ter) c.4205C>G (p.Ser1402Ter) c.4154C>G (p.Ser1385Ter) c.1286C>G (p.Ser429Ter) | ClinVar dbSNP |
18 | g.33744170C>T | CA402190673 | ASXL3 | c.4325C>T (p.Ser1442Leu) c.4322C>T (p.Ser1441Leu) c.4202C>T (p.Ser1401Leu) c.4298C>T (p.Ser1433Leu) c.4244C>T (p.Ser1415Leu) c.4205C>T (p.Ser1402Leu) c.4154C>T (p.Ser1385Leu) c.1286C>T (p.Ser429Leu) | COSMIC |
18 | g.33744171del | CA2701982262 | ASXL3 | c.4326del (p.Pro1444LeufsTer23) c.4323del (p.Pro1443LeufsTer23) c.4203del (p.Pro1403LeufsTer23) c.4299del (p.Pro1435LeufsTer23) c.4245del (p.Pro1417LeufsTer23) c.4206del (p.Pro1404LeufsTer23) c.4155del (p.Pro1387LeufsTer23) c.1287del (p.Pro431LeufsTer23) | |
18 | g.33744171A>C | CA503770524 | ASXL3 | c.4326A>C (p.Ser1442=) c.4323A>C (p.Ser1441=) c.4203A>C (p.Ser1401=) c.4299A>C (p.Ser1433=) c.4245A>C (p.Ser1415=) c.4206A>C (p.Ser1402=) c.4155A>C (p.Ser1385=) c.1287A>C (p.Ser429=) | |
18 | g.33744171A>G | CA503770528 | ASXL3 | c.4326A>G (p.Ser1442=) c.4323A>G (p.Ser1441=) c.4203A>G (p.Ser1401=) c.4299A>G (p.Ser1433=) c.4245A>G (p.Ser1415=) c.4206A>G (p.Ser1402=) c.4155A>G (p.Ser1385=) c.1287A>G (p.Ser429=) | gnomAD v4 |
18 | g.33744171A>T | CA503770525 | ASXL3 | c.4326A>T (p.Ser1442=) c.4323A>T (p.Ser1441=) c.4203A>T (p.Ser1401=) c.4299A>T (p.Ser1433=) c.4245A>T (p.Ser1415=) c.4206A>T (p.Ser1402=) c.4155A>T (p.Ser1385=) c.1287A>T (p.Ser429=) | |
18 | g.33744172G>A | CA402190674 | ASXL3 | c.4327G>A (p.Gly1443Arg) c.4324G>A (p.Gly1442Arg) c.4204G>A (p.Gly1402Arg) c.4300G>A (p.Gly1434Arg) c.4246G>A (p.Gly1416Arg) c.4207G>A (p.Gly1403Arg) c.4156G>A (p.Gly1386Arg) c.1288G>A (p.Gly430Arg) | gnomAD v4 |
18 | g.33744172G>C | CA402190675 | ASXL3 | c.4327G>C (p.Gly1443Arg) c.4324G>C (p.Gly1442Arg) c.4204G>C (p.Gly1402Arg) c.4300G>C (p.Gly1434Arg) c.4246G>C (p.Gly1416Arg) c.4207G>C (p.Gly1403Arg) c.4156G>C (p.Gly1386Arg) c.1288G>C (p.Gly430Arg) | |
18 | g.33744172G>T | CA402190676 | ASXL3 | c.4327G>T (p.Gly1443Trp) c.4324G>T (p.Gly1442Trp) c.4204G>T (p.Gly1402Trp) c.4300G>T (p.Gly1434Trp) c.4246G>T (p.Gly1416Trp) c.4207G>T (p.Gly1403Trp) c.4156G>T (p.Gly1386Trp) c.1288G>T (p.Gly430Trp) | |
18 | g.33744173G>A | CA8934237 | ASXL3 | c.4328G>A (p.Gly1443Glu) c.4325G>A (p.Gly1442Glu) c.4205G>A (p.Gly1402Glu) c.4301G>A (p.Gly1434Glu) c.4247G>A (p.Gly1416Glu) c.4208G>A (p.Gly1403Glu) c.4157G>A (p.Gly1386Glu) c.1289G>A (p.Gly430Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744173G>C | CA402190678 | ASXL3 | c.4328G>C (p.Gly1443Ala) c.4325G>C (p.Gly1442Ala) c.4205G>C (p.Gly1402Ala) c.4301G>C (p.Gly1434Ala) c.4247G>C (p.Gly1416Ala) c.4208G>C (p.Gly1403Ala) c.4157G>C (p.Gly1386Ala) c.1289G>C (p.Gly430Ala) | |
18 | g.33744173G= | CA2294858021 | ASXL3 | c.4328G= (p.Gly1443=) c.4325G= (p.Gly1442=) c.4205G= (p.Gly1402=) c.4301G= (p.Gly1434=) c.4247G= (p.Gly1416=) c.4208G= (p.Gly1403=) c.4157G= (p.Gly1386=) c.1289G= (p.Gly430=) | |
18 | g.33744173G>T | CA402190677 | ASXL3 | c.4328G>T (p.Gly1443Val) c.4325G>T (p.Gly1442Val) c.4205G>T (p.Gly1402Val) c.4301G>T (p.Gly1434Val) c.4247G>T (p.Gly1416Val) c.4208G>T (p.Gly1403Val) c.4157G>T (p.Gly1386Val) c.1289G>T (p.Gly430Val) | |
18 | g.33744174G>A | CA503770537 | ASXL3 | c.4329G>A (p.Gly1443=) c.4326G>A (p.Gly1442=) c.4206G>A (p.Gly1402=) c.4302G>A (p.Gly1434=) c.4248G>A (p.Gly1416=) c.4209G>A (p.Gly1403=) c.4158G>A (p.Gly1386=) c.1290G>A (p.Gly430=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33744174G>C | CA503770539 | ASXL3 | c.4329G>C (p.Gly1443=) c.4326G>C (p.Gly1442=) c.4206G>C (p.Gly1402=) c.4302G>C (p.Gly1434=) c.4248G>C (p.Gly1416=) c.4209G>C (p.Gly1403=) c.4158G>C (p.Gly1386=) c.1290G>C (p.Gly430=) | |
18 | g.33744174G= | CA2294858022 | ASXL3 | c.4329G= (p.Gly1443=) c.4326G= (p.Gly1442=) c.4206G= (p.Gly1402=) c.4302G= (p.Gly1434=) c.4248G= (p.Gly1416=) c.4209G= (p.Gly1403=) c.4158G= (p.Gly1386=) c.1290G= (p.Gly430=) | |
18 | g.33744174G>T | CA503770540 | ASXL3 | c.4329G>T (p.Gly1443=) c.4326G>T (p.Gly1442=) c.4206G>T (p.Gly1402=) c.4302G>T (p.Gly1434=) c.4248G>T (p.Gly1416=) c.4209G>T (p.Gly1403=) c.4158G>T (p.Gly1386=) c.1290G>T (p.Gly430=) | |
18 | g.33744175C>A | CA402190679 | ASXL3 | c.4330C>A (p.Pro1444Thr) c.4327C>A (p.Pro1443Thr) c.4207C>A (p.Pro1403Thr) c.4303C>A (p.Pro1435Thr) c.4249C>A (p.Pro1417Thr) c.4210C>A (p.Pro1404Thr) c.4159C>A (p.Pro1387Thr) c.1291C>A (p.Pro431Thr) | dbSNP |
18 | g.33744175C= | CA2294858023 | ASXL3 | c.4330C= (p.Pro1444=) c.4327C= (p.Pro1443=) c.4207C= (p.Pro1403=) c.4303C= (p.Pro1435=) c.4249C= (p.Pro1417=) c.4210C= (p.Pro1404=) c.4159C= (p.Pro1387=) c.1291C= (p.Pro431=) | |
18 | g.33744175C>G | CA402190680 | ASXL3 | c.4330C>G (p.Pro1444Ala) c.4327C>G (p.Pro1443Ala) c.4207C>G (p.Pro1403Ala) c.4303C>G (p.Pro1435Ala) c.4249C>G (p.Pro1417Ala) c.4210C>G (p.Pro1404Ala) c.4159C>G (p.Pro1387Ala) c.1291C>G (p.Pro431Ala) | |
18 | g.33744175C>T | CA402190681 | ASXL3 | c.4330C>T (p.Pro1444Ser) c.4327C>T (p.Pro1443Ser) c.4207C>T (p.Pro1403Ser) c.4303C>T (p.Pro1435Ser) c.4249C>T (p.Pro1417Ser) c.4210C>T (p.Pro1404Ser) c.4159C>T (p.Pro1387Ser) c.1291C>T (p.Pro431Ser) | |
18 | g.33744176C>A | CA402190682 | ASXL3 | c.4331C>A (p.Pro1444His) c.4328C>A (p.Pro1443His) c.4208C>A (p.Pro1403His) c.4304C>A (p.Pro1435His) c.4250C>A (p.Pro1417His) c.4211C>A (p.Pro1404His) c.4160C>A (p.Pro1387His) c.1292C>A (p.Pro431His) | |
18 | g.33744176C= | CA2294858024 | ASXL3 | c.4331C= (p.Pro1444=) c.4328C= (p.Pro1443=) c.4208C= (p.Pro1403=) c.4304C= (p.Pro1435=) c.4250C= (p.Pro1417=) c.4211C= (p.Pro1404=) c.4160C= (p.Pro1387=) c.1292C= (p.Pro431=) | |
18 | g.33744176C>G | CA8934239 | ASXL3 | c.4331C>G (p.Pro1444Arg) c.4328C>G (p.Pro1443Arg) c.4208C>G (p.Pro1403Arg) c.4304C>G (p.Pro1435Arg) c.4250C>G (p.Pro1417Arg) c.4211C>G (p.Pro1404Arg) c.4160C>G (p.Pro1387Arg) c.1292C>G (p.Pro431Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744176C>T | CA8934238 | ASXL3 | c.4331C>T (p.Pro1444Leu) c.4328C>T (p.Pro1443Leu) c.4208C>T (p.Pro1403Leu) c.4304C>T (p.Pro1435Leu) c.4250C>T (p.Pro1417Leu) c.4211C>T (p.Pro1404Leu) c.4160C>T (p.Pro1387Leu) c.1292C>T (p.Pro431Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744177T>A | CA503770543 | ASXL3 | c.4332T>A (p.Pro1444=) c.4329T>A (p.Pro1443=) c.4209T>A (p.Pro1403=) c.4305T>A (p.Pro1435=) c.4251T>A (p.Pro1417=) c.4212T>A (p.Pro1404=) c.4161T>A (p.Pro1387=) c.1293T>A (p.Pro431=) | |
18 | g.33744177T>C | CA503770545 | ASXL3 | c.4332T>C (p.Pro1444=) c.4329T>C (p.Pro1443=) c.4209T>C (p.Pro1403=) c.4305T>C (p.Pro1435=) c.4251T>C (p.Pro1417=) c.4212T>C (p.Pro1404=) c.4161T>C (p.Pro1387=) c.1293T>C (p.Pro431=) | |
18 | g.33744177T>G | CA503770547 | ASXL3 | c.4332T>G (p.Pro1444=) c.4329T>G (p.Pro1443=) c.4209T>G (p.Pro1403=) c.4305T>G (p.Pro1435=) c.4251T>G (p.Pro1417=) c.4212T>G (p.Pro1404=) c.4161T>G (p.Pro1387=) c.1293T>G (p.Pro431=) | |
18 | g.33744178C>A | CA503770548 | ASXL3 | c.4333C>A (p.Arg1445=) c.4330C>A (p.Arg1444=) c.4210C>A (p.Arg1404=) c.4306C>A (p.Arg1436=) c.4252C>A (p.Arg1418=) c.4213C>A (p.Arg1405=) c.4162C>A (p.Arg1388=) c.1294C>A (p.Arg432=) | COSMIC |
18 | g.33744178C= | CA2294858025 | ASXL3 | c.4333C= (p.Arg1445=) c.4330C= (p.Arg1444=) c.4210C= (p.Arg1404=) c.4306C= (p.Arg1436=) c.4252C= (p.Arg1418=) c.4213C= (p.Arg1405=) c.4162C= (p.Arg1388=) c.1294C= (p.Arg432=) | |
18 | g.33744178C>G | CA402190684 | ASXL3 | c.4333C>G (p.Arg1445Gly) c.4330C>G (p.Arg1444Gly) c.4210C>G (p.Arg1404Gly) c.4306C>G (p.Arg1436Gly) c.4252C>G (p.Arg1418Gly) c.4213C>G (p.Arg1405Gly) c.4162C>G (p.Arg1388Gly) c.1294C>G (p.Arg432Gly) | |
18 | g.33744178C>T | CA402190683 | ASXL3 | c.4333C>T (p.Arg1445Ter) c.4330C>T (p.Arg1444Ter) c.4210C>T (p.Arg1404Ter) c.4306C>T (p.Arg1436Ter) c.4252C>T (p.Arg1418Ter) c.4213C>T (p.Arg1405Ter) c.4162C>T (p.Arg1388Ter) c.1294C>T (p.Arg432Ter) | ClinVar dbSNP |
18 | g.33744179G>A | CA8934240 | ASXL3 | c.4334G>A (p.Arg1445Gln) c.4331G>A (p.Arg1444Gln) c.4211G>A (p.Arg1404Gln) c.4307G>A (p.Arg1436Gln) c.4253G>A (p.Arg1418Gln) c.4214G>A (p.Arg1405Gln) c.4163G>A (p.Arg1388Gln) c.1295G>A (p.Arg432Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744179G>C | CA402190685 | ASXL3 | c.4334G>C (p.Arg1445Pro) c.4331G>C (p.Arg1444Pro) c.4211G>C (p.Arg1404Pro) c.4307G>C (p.Arg1436Pro) c.4253G>C (p.Arg1418Pro) c.4214G>C (p.Arg1405Pro) c.4163G>C (p.Arg1388Pro) c.1295G>C (p.Arg432Pro) | |
18 | g.33744179G= | CA2294858026 | ASXL3 | c.4334G= (p.Arg1445=) c.4331G= (p.Arg1444=) c.4211G= (p.Arg1404=) c.4307G= (p.Arg1436=) c.4253G= (p.Arg1418=) c.4214G= (p.Arg1405=) c.4163G= (p.Arg1388=) c.1295G= (p.Arg432=) | |
18 | g.33744179G>T | CA402190686 | ASXL3 | c.4334G>T (p.Arg1445Leu) c.4331G>T (p.Arg1444Leu) c.4211G>T (p.Arg1404Leu) c.4307G>T (p.Arg1436Leu) c.4253G>T (p.Arg1418Leu) c.4214G>T (p.Arg1405Leu) c.4163G>T (p.Arg1388Leu) c.1295G>T (p.Arg432Leu) | |
18 | g.33744180A>C | CA503770551 | ASXL3 | c.4335A>C (p.Arg1445=) c.4332A>C (p.Arg1444=) c.4212A>C (p.Arg1404=) c.4308A>C (p.Arg1436=) c.4254A>C (p.Arg1418=) c.4215A>C (p.Arg1405=) c.4164A>C (p.Arg1388=) c.1296A>C (p.Arg432=) | |
18 | g.33744180A>G | CA503770552 | ASXL3 | c.4335A>G (p.Arg1445=) c.4332A>G (p.Arg1444=) c.4212A>G (p.Arg1404=) c.4308A>G (p.Arg1436=) c.4254A>G (p.Arg1418=) c.4215A>G (p.Arg1405=) c.4164A>G (p.Arg1388=) c.1296A>G (p.Arg432=) | |
18 | g.33744180A>T | CA503770554 | ASXL3 | c.4335A>T (p.Arg1445=) c.4332A>T (p.Arg1444=) c.4212A>T (p.Arg1404=) c.4308A>T (p.Arg1436=) c.4254A>T (p.Arg1418=) c.4215A>T (p.Arg1405=) c.4164A>T (p.Arg1388=) c.1296A>T (p.Arg432=) | |
18 | g.33744181A>C | CA402190687 | ASXL3 | c.4336A>C (p.Asn1446His) c.4333A>C (p.Asn1445His) c.4213A>C (p.Asn1405His) c.4309A>C (p.Asn1437His) c.4255A>C (p.Asn1419His) c.4216A>C (p.Asn1406His) c.4165A>C (p.Asn1389His) c.1297A>C (p.Asn433His) | |
18 | g.33744181A>G | CA402190688 | ASXL3 | c.4336A>G (p.Asn1446Asp) c.4333A>G (p.Asn1445Asp) c.4213A>G (p.Asn1405Asp) c.4309A>G (p.Asn1437Asp) c.4255A>G (p.Asn1419Asp) c.4216A>G (p.Asn1406Asp) c.4165A>G (p.Asn1389Asp) c.1297A>G (p.Asn433Asp) | |
18 | g.33744181A>T | CA402190689 | ASXL3 | c.4336A>T (p.Asn1446Tyr) c.4333A>T (p.Asn1445Tyr) c.4213A>T (p.Asn1405Tyr) c.4309A>T (p.Asn1437Tyr) c.4255A>T (p.Asn1419Tyr) c.4216A>T (p.Asn1406Tyr) c.4165A>T (p.Asn1389Tyr) c.1297A>T (p.Asn433Tyr) | |
18 | g.33744182A= | CA2294858027 | ASXL3 | c.4337A= (p.Asn1446=) c.4334A= (p.Asn1445=) c.4214A= (p.Asn1405=) c.4310A= (p.Asn1437=) c.4256A= (p.Asn1419=) c.4217A= (p.Asn1406=) c.4166A= (p.Asn1389=) c.1298A= (p.Asn433=) | |
18 | g.33744182A>C | CA402190690 | ASXL3 | c.4337A>C (p.Asn1446Thr) c.4334A>C (p.Asn1445Thr) c.4214A>C (p.Asn1405Thr) c.4310A>C (p.Asn1437Thr) c.4256A>C (p.Asn1419Thr) c.4217A>C (p.Asn1406Thr) c.4166A>C (p.Asn1389Thr) c.1298A>C (p.Asn433Thr) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33744182A>G | CA402190692 | ASXL3 | c.4337A>G (p.Asn1446Ser) c.4334A>G (p.Asn1445Ser) c.4214A>G (p.Asn1405Ser) c.4310A>G (p.Asn1437Ser) c.4256A>G (p.Asn1419Ser) c.4217A>G (p.Asn1406Ser) c.4166A>G (p.Asn1389Ser) c.1298A>G (p.Asn433Ser) | |
18 | g.33744182A>T | CA402190691 | ASXL3 | c.4337A>T (p.Asn1446Ile) c.4334A>T (p.Asn1445Ile) c.4214A>T (p.Asn1405Ile) c.4310A>T (p.Asn1437Ile) c.4256A>T (p.Asn1419Ile) c.4217A>T (p.Asn1406Ile) c.4166A>T (p.Asn1389Ile) c.1298A>T (p.Asn433Ile) | |
18 | g.33744183C>A | CA402190693 | ASXL3 | c.4338C>A (p.Asn1446Lys) c.4335C>A (p.Asn1445Lys) c.4215C>A (p.Asn1405Lys) c.4311C>A (p.Asn1437Lys) c.4257C>A (p.Asn1419Lys) c.4218C>A (p.Asn1406Lys) c.4167C>A (p.Asn1389Lys) c.1299C>A (p.Asn433Lys) | |
18 | g.33744183C= | CA2294858029 | ASXL3 | c.4338C= (p.Asn1446=) c.4335C= (p.Asn1445=) c.4215C= (p.Asn1405=) c.4311C= (p.Asn1437=) c.4257C= (p.Asn1419=) c.4218C= (p.Asn1406=) c.4167C= (p.Asn1389=) c.1299C= (p.Asn433=) | |
18 | g.33744183C>G | CA402190694 | ASXL3 | c.4338C>G (p.Asn1446Lys) c.4335C>G (p.Asn1445Lys) c.4215C>G (p.Asn1405Lys) c.4311C>G (p.Asn1437Lys) c.4257C>G (p.Asn1419Lys) c.4218C>G (p.Asn1406Lys) c.4167C>G (p.Asn1389Lys) c.1299C>G (p.Asn433Lys) | |
18 | g.33744183C>T | CA503770563 | ASXL3 | c.4338C>T (p.Asn1446=) c.4335C>T (p.Asn1445=) c.4215C>T (p.Asn1405=) c.4311C>T (p.Asn1437=) c.4257C>T (p.Asn1419=) c.4218C>T (p.Asn1406=) c.4167C>T (p.Asn1389=) c.1299C>T (p.Asn433=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.33744183_33744185delinsCAG | CA2294858028 | ASXL3 | c.4338_4340delinsCAG (p.Asn1446=) c.4335_4337delinsCAG (p.Asn1445=) c.4215_4217delinsCAG (p.Asn1405=) c.4311_4313delinsCAG (p.Asn1437=) c.4257_4259delinsCAG (p.Asn1419=) c.4218_4220delinsCAG (p.Asn1406=) c.4167_4169delinsCAG (p.Asn1389=) c.1299_1301delinsCAG (p.Asn433=) | |
18 | g.33744184A= | CA2294858030 | ASXL3 | c.4339A= (p.Arg1447=) c.4336A= (p.Arg1446=) c.4216A= (p.Arg1406=) c.4312A= (p.Arg1438=) c.4258A= (p.Arg1420=) c.4219A= (p.Arg1407=) c.4168A= (p.Arg1390=) c.1300A= (p.Arg434=) | |
18 | g.33744184A>C | CA503770564 | ASXL3 | c.4339A>C (p.Arg1447=) c.4336A>C (p.Arg1446=) c.4216A>C (p.Arg1406=) c.4312A>C (p.Arg1438=) c.4258A>C (p.Arg1420=) c.4219A>C (p.Arg1407=) c.4168A>C (p.Arg1390=) c.1300A>C (p.Arg434=) | gnomAD v4 |
18 | g.33744184A>G | CA402190695 | ASXL3 | c.4339A>G (p.Arg1447Gly) c.4336A>G (p.Arg1446Gly) c.4216A>G (p.Arg1406Gly) c.4312A>G (p.Arg1438Gly) c.4258A>G (p.Arg1420Gly) c.4219A>G (p.Arg1407Gly) c.4168A>G (p.Arg1390Gly) c.1300A>G (p.Arg434Gly) | gnomAD v4 |
18 | g.33744184A>T | CA8934241 | ASXL3 | c.4339A>T (p.Arg1447Trp) c.4336A>T (p.Arg1446Trp) c.4216A>T (p.Arg1406Trp) c.4312A>T (p.Arg1438Trp) c.4258A>T (p.Arg1420Trp) c.4219A>T (p.Arg1407Trp) c.4168A>T (p.Arg1390Trp) c.1300A>T (p.Arg434Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744184_33744185del | CA915952507 | ASXL3 | c.4339_4340del (p.Arg1447GlyfsTer3) c.4336_4337del (p.Arg1446GlyfsTer3) c.4216_4217del (p.Arg1406GlyfsTer3) c.4312_4313del (p.Arg1438GlyfsTer3) c.4258_4259del (p.Arg1420GlyfsTer3) c.4219_4220del (p.Arg1407GlyfsTer3) c.4168_4169del (p.Arg1390GlyfsTer3) c.1300_1301del (p.Arg434GlyfsTer3) | ClinVar dbSNP |
18 | g.33744185G>A | CA402190696 | ASXL3 | c.4340G>A (p.Arg1447Lys) c.4337G>A (p.Arg1446Lys) c.4217G>A (p.Arg1406Lys) c.4313G>A (p.Arg1438Lys) c.4259G>A (p.Arg1420Lys) c.4220G>A (p.Arg1407Lys) c.4169G>A (p.Arg1390Lys) c.1301G>A (p.Arg434Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744185G>C | CA402190697 | ASXL3 | c.4340G>C (p.Arg1447Thr) c.4337G>C (p.Arg1446Thr) c.4217G>C (p.Arg1406Thr) c.4313G>C (p.Arg1438Thr) c.4259G>C (p.Arg1420Thr) c.4220G>C (p.Arg1407Thr) c.4169G>C (p.Arg1390Thr) c.1301G>C (p.Arg434Thr) | |
18 | g.33744185G= | CA2294858031 | ASXL3 | c.4340G= (p.Arg1447=) c.4337G= (p.Arg1446=) c.4217G= (p.Arg1406=) c.4313G= (p.Arg1438=) c.4259G= (p.Arg1420=) c.4220G= (p.Arg1407=) c.4169G= (p.Arg1390=) c.1301G= (p.Arg434=) | |
18 | g.33744185G>T | CA402190698 | ASXL3 | c.4340G>T (p.Arg1447Met) c.4337G>T (p.Arg1446Met) c.4217G>T (p.Arg1406Met) c.4313G>T (p.Arg1438Met) c.4259G>T (p.Arg1420Met) c.4220G>T (p.Arg1407Met) c.4169G>T (p.Arg1390Met) c.1301G>T (p.Arg434Met) | |
18 | g.33744186G>A | CA503770567 | ASXL3 | c.4341G>A (p.Arg1447=) c.4338G>A (p.Arg1446=) c.4218G>A (p.Arg1406=) c.4314G>A (p.Arg1438=) c.4260G>A (p.Arg1420=) c.4221G>A (p.Arg1407=) c.4170G>A (p.Arg1390=) c.1302G>A (p.Arg434=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33744186G>C | CA402190699 | ASXL3 | c.4341G>C (p.Arg1447Ser) c.4338G>C (p.Arg1446Ser) c.4218G>C (p.Arg1406Ser) c.4314G>C (p.Arg1438Ser) c.4260G>C (p.Arg1420Ser) c.4221G>C (p.Arg1407Ser) c.4170G>C (p.Arg1390Ser) c.1302G>C (p.Arg434Ser) | |
18 | g.33744186G= | CA2294858032 | ASXL3 | c.4341G= (p.Arg1447=) c.4338G= (p.Arg1446=) c.4218G= (p.Arg1406=) c.4314G= (p.Arg1438=) c.4260G= (p.Arg1420=) c.4221G= (p.Arg1407=) c.4170G= (p.Arg1390=) c.1302G= (p.Arg434=) | |
18 | g.33744186G>T | CA402190700 | ASXL3 | c.4341G>T (p.Arg1447Ser) c.4338G>T (p.Arg1446Ser) c.4218G>T (p.Arg1406Ser) c.4314G>T (p.Arg1438Ser) c.4260G>T (p.Arg1420Ser) c.4221G>T (p.Arg1407Ser) c.4170G>T (p.Arg1390Ser) c.1302G>T (p.Arg434Ser) | ClinVar dbSNP |
18 | g.33744187G>A | CA402190701 | ASXL3 | c.4342G>A (p.Ala1448Thr) c.4339G>A (p.Ala1447Thr) c.4219G>A (p.Ala1407Thr) c.4315G>A (p.Ala1439Thr) c.4261G>A (p.Ala1421Thr) c.4222G>A (p.Ala1408Thr) c.4171G>A (p.Ala1391Thr) c.1303G>A (p.Ala435Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744187G>C | CA402190702 | ASXL3 | c.4342G>C (p.Ala1448Pro) c.4339G>C (p.Ala1447Pro) c.4219G>C (p.Ala1407Pro) c.4315G>C (p.Ala1439Pro) c.4261G>C (p.Ala1421Pro) c.4222G>C (p.Ala1408Pro) c.4171G>C (p.Ala1391Pro) c.1303G>C (p.Ala435Pro) | |
18 | g.33744187G= | CA2294858033 | ASXL3 | c.4342G= (p.Ala1448=) c.4339G= (p.Ala1447=) c.4219G= (p.Ala1407=) c.4315G= (p.Ala1439=) c.4261G= (p.Ala1421=) c.4222G= (p.Ala1408=) c.4171G= (p.Ala1391=) c.1303G= (p.Ala435=) | |
18 | g.33744187G>T | CA8934242 | ASXL3 | c.4342G>T (p.Ala1448Ser) c.4339G>T (p.Ala1447Ser) c.4219G>T (p.Ala1407Ser) c.4315G>T (p.Ala1439Ser) c.4261G>T (p.Ala1421Ser) c.4222G>T (p.Ala1408Ser) c.4171G>T (p.Ala1391Ser) c.1303G>T (p.Ala435Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744188C>A | CA402190704 | ASXL3 | c.4343C>A (p.Ala1448Glu) c.4340C>A (p.Ala1447Glu) c.4220C>A (p.Ala1407Glu) c.4316C>A (p.Ala1439Glu) c.4262C>A (p.Ala1421Glu) c.4223C>A (p.Ala1408Glu) c.4172C>A (p.Ala1391Glu) c.1304C>A (p.Ala435Glu) | |
18 | g.33744188C>G | CA402190705 | ASXL3 | c.4343C>G (p.Ala1448Gly) c.4340C>G (p.Ala1447Gly) c.4220C>G (p.Ala1407Gly) c.4316C>G (p.Ala1439Gly) c.4262C>G (p.Ala1421Gly) c.4223C>G (p.Ala1408Gly) c.4172C>G (p.Ala1391Gly) c.1304C>G (p.Ala435Gly) | |
18 | g.33744188C>T | CA402190703 | ASXL3 | c.4343C>T (p.Ala1448Val) c.4340C>T (p.Ala1447Val) c.4220C>T (p.Ala1407Val) c.4316C>T (p.Ala1439Val) c.4262C>T (p.Ala1421Val) c.4223C>T (p.Ala1408Val) c.4172C>T (p.Ala1391Val) c.1304C>T (p.Ala435Val) | |
18 | g.33744189A>C | CA503770577 | ASXL3 | c.4344A>C (p.Ala1448=) c.4341A>C (p.Ala1447=) c.4221A>C (p.Ala1407=) c.4317A>C (p.Ala1439=) c.4263A>C (p.Ala1421=) c.4224A>C (p.Ala1408=) c.4173A>C (p.Ala1391=) c.1305A>C (p.Ala435=) | |
18 | g.33744189A>G | CA503770578 | ASXL3 | c.4344A>G (p.Ala1448=) c.4341A>G (p.Ala1447=) c.4221A>G (p.Ala1407=) c.4317A>G (p.Ala1439=) c.4263A>G (p.Ala1421=) c.4224A>G (p.Ala1408=) c.4173A>G (p.Ala1391=) c.1305A>G (p.Ala435=) | gnomAD v4 |
18 | g.33744189A>T | CA503770579 | ASXL3 | c.4344A>T (p.Ala1448=) c.4341A>T (p.Ala1447=) c.4221A>T (p.Ala1407=) c.4317A>T (p.Ala1439=) c.4263A>T (p.Ala1421=) c.4224A>T (p.Ala1408=) c.4173A>T (p.Ala1391=) c.1305A>T (p.Ala435=) | |
18 | g.33744190G>A | CA8934243 | ASXL3 | c.4345G>A (p.Asp1449Asn) c.4342G>A (p.Asp1448Asn) c.4222G>A (p.Asp1408Asn) c.4318G>A (p.Asp1440Asn) c.4264G>A (p.Asp1422Asn) c.4225G>A (p.Asp1409Asn) c.4174G>A (p.Asp1392Asn) c.1306G>A (p.Asp436Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744190G>C | CA402190706 | ASXL3 | c.4345G>C (p.Asp1449His) c.4342G>C (p.Asp1448His) c.4222G>C (p.Asp1408His) c.4318G>C (p.Asp1440His) c.4264G>C (p.Asp1422His) c.4225G>C (p.Asp1409His) c.4174G>C (p.Asp1392His) c.1306G>C (p.Asp436His) | |
18 | g.33744190G= | CA2294858034 | ASXL3 | c.4345G= (p.Asp1449=) c.4342G= (p.Asp1448=) c.4222G= (p.Asp1408=) c.4318G= (p.Asp1440=) c.4264G= (p.Asp1422=) c.4225G= (p.Asp1409=) c.4174G= (p.Asp1392=) c.1306G= (p.Asp436=) | |
18 | g.33744190G>T | CA402190707 | ASXL3 | c.4345G>T (p.Asp1449Tyr) c.4342G>T (p.Asp1448Tyr) c.4222G>T (p.Asp1408Tyr) c.4318G>T (p.Asp1440Tyr) c.4264G>T (p.Asp1422Tyr) c.4225G>T (p.Asp1409Tyr) c.4174G>T (p.Asp1392Tyr) c.1306G>T (p.Asp436Tyr) | |
18 | g.33744191A= | CA2294858035 | ASXL3 | c.4346A= (p.Asp1449=) c.4343A= (p.Asp1448=) c.4223A= (p.Asp1408=) c.4319A= (p.Asp1440=) c.4265A= (p.Asp1422=) c.4226A= (p.Asp1409=) c.4175A= (p.Asp1392=) c.1307A= (p.Asp436=) | |
18 | g.33744191A>C | CA402190708 | ASXL3 | c.4346A>C (p.Asp1449Ala) c.4343A>C (p.Asp1448Ala) c.4223A>C (p.Asp1408Ala) c.4319A>C (p.Asp1440Ala) c.4265A>C (p.Asp1422Ala) c.4226A>C (p.Asp1409Ala) c.4175A>C (p.Asp1392Ala) c.1307A>C (p.Asp436Ala) | |
18 | g.33744191A>G | CA402190709 | ASXL3 | c.4346A>G (p.Asp1449Gly) c.4343A>G (p.Asp1448Gly) c.4223A>G (p.Asp1408Gly) c.4319A>G (p.Asp1440Gly) c.4265A>G (p.Asp1422Gly) c.4226A>G (p.Asp1409Gly) c.4175A>G (p.Asp1392Gly) c.1307A>G (p.Asp436Gly) | dbSNP gnomAD v4 |
18 | g.33744191A>T | CA402190710 | ASXL3 | c.4346A>T (p.Asp1449Val) c.4343A>T (p.Asp1448Val) c.4223A>T (p.Asp1408Val) c.4319A>T (p.Asp1440Val) c.4265A>T (p.Asp1422Val) c.4226A>T (p.Asp1409Val) c.4175A>T (p.Asp1392Val) c.1307A>T (p.Asp436Val) | |
18 | g.33744192T>A | CA402190711 | ASXL3 | c.4347T>A (p.Asp1449Glu) c.4344T>A (p.Asp1448Glu) c.4224T>A (p.Asp1408Glu) c.4320T>A (p.Asp1440Glu) c.4266T>A (p.Asp1422Glu) c.4227T>A (p.Asp1409Glu) c.4176T>A (p.Asp1392Glu) c.1308T>A (p.Asp436Glu) | gnomAD v4 |
18 | g.33744192T>C | CA503770583 | ASXL3 | c.4347T>C (p.Asp1449=) c.4344T>C (p.Asp1448=) c.4224T>C (p.Asp1408=) c.4320T>C (p.Asp1440=) c.4266T>C (p.Asp1422=) c.4227T>C (p.Asp1409=) c.4176T>C (p.Asp1392=) c.1308T>C (p.Asp436=) | |
18 | g.33744192T>G | CA402190712 | ASXL3 | c.4347T>G (p.Asp1449Glu) c.4344T>G (p.Asp1448Glu) c.4224T>G (p.Asp1408Glu) c.4320T>G (p.Asp1440Glu) c.4266T>G (p.Asp1422Glu) c.4227T>G (p.Asp1409Glu) c.4176T>G (p.Asp1392Glu) c.1308T>G (p.Asp436Glu) | |
18 | g.33744193A= | CA2294858036 | ASXL3 | c.4348A= (p.Asn1450=) c.4345A= (p.Asn1449=) c.4225A= (p.Asn1409=) c.4321A= (p.Asn1441=) c.4267A= (p.Asn1423=) c.4228A= (p.Asn1410=) c.4177A= (p.Asn1393=) c.1309A= (p.Asn437=) | |
18 | g.33744193A>C | CA402190713 | ASXL3 | c.4348A>C (p.Asn1450His) c.4345A>C (p.Asn1449His) c.4225A>C (p.Asn1409His) c.4321A>C (p.Asn1441His) c.4267A>C (p.Asn1423His) c.4228A>C (p.Asn1410His) c.4177A>C (p.Asn1393His) c.1309A>C (p.Asn437His) | |
18 | g.33744193A>G | CA402190714 | ASXL3 | c.4348A>G (p.Asn1450Asp) c.4345A>G (p.Asn1449Asp) c.4225A>G (p.Asn1409Asp) c.4321A>G (p.Asn1441Asp) c.4267A>G (p.Asn1423Asp) c.4228A>G (p.Asn1410Asp) c.4177A>G (p.Asn1393Asp) c.1309A>G (p.Asn437Asp) | dbSNP gnomAD v4 |
18 | g.33744193A>T | CA402190715 | ASXL3 | c.4348A>T (p.Asn1450Tyr) c.4345A>T (p.Asn1449Tyr) c.4225A>T (p.Asn1409Tyr) c.4321A>T (p.Asn1441Tyr) c.4267A>T (p.Asn1423Tyr) c.4228A>T (p.Asn1410Tyr) c.4177A>T (p.Asn1393Tyr) c.1309A>T (p.Asn437Tyr) | COSMIC |
18 | g.33744194A= | CA2294858037 | ASXL3 | c.4349A= (p.Asn1450=) c.4346A= (p.Asn1449=) c.4226A= (p.Asn1409=) c.4322A= (p.Asn1441=) c.4268A= (p.Asn1423=) c.4229A= (p.Asn1410=) c.4178A= (p.Asn1393=) c.1310A= (p.Asn437=) | |
18 | g.33744194A>C | CA402190716 | ASXL3 | c.4349A>C (p.Asn1450Thr) c.4346A>C (p.Asn1449Thr) c.4226A>C (p.Asn1409Thr) c.4322A>C (p.Asn1441Thr) c.4268A>C (p.Asn1423Thr) c.4229A>C (p.Asn1410Thr) c.4178A>C (p.Asn1393Thr) c.1310A>C (p.Asn437Thr) | |
18 | g.33744194A>G | CA402190717 | ASXL3 | c.4349A>G (p.Asn1450Ser) c.4346A>G (p.Asn1449Ser) c.4226A>G (p.Asn1409Ser) c.4322A>G (p.Asn1441Ser) c.4268A>G (p.Asn1423Ser) c.4229A>G (p.Asn1410Ser) c.4178A>G (p.Asn1393Ser) c.1310A>G (p.Asn437Ser) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33744194A>T | CA402190718 | ASXL3 | c.4349A>T (p.Asn1450Ile) c.4346A>T (p.Asn1449Ile) c.4226A>T (p.Asn1409Ile) c.4322A>T (p.Asn1441Ile) c.4268A>T (p.Asn1423Ile) c.4229A>T (p.Asn1410Ile) c.4178A>T (p.Asn1393Ile) c.1310A>T (p.Asn437Ile) | |
18 | g.33744195T>A | CA402190719 | ASXL3 | c.4350T>A (p.Asn1450Lys) c.4347T>A (p.Asn1449Lys) c.4227T>A (p.Asn1409Lys) c.4323T>A (p.Asn1441Lys) c.4269T>A (p.Asn1423Lys) c.4230T>A (p.Asn1410Lys) c.4179T>A (p.Asn1393Lys) c.1311T>A (p.Asn437Lys) | |
18 | g.33744195T>C | CA503770593 | ASXL3 | c.4350T>C (p.Asn1450=) c.4347T>C (p.Asn1449=) c.4227T>C (p.Asn1409=) c.4323T>C (p.Asn1441=) c.4269T>C (p.Asn1423=) c.4230T>C (p.Asn1410=) c.4179T>C (p.Asn1393=) c.1311T>C (p.Asn437=) | gnomAD v4 |
18 | g.33744195T>G | CA8934244 | ASXL3 | c.4350T>G (p.Asn1450Lys) c.4347T>G (p.Asn1449Lys) c.4227T>G (p.Asn1409Lys) c.4323T>G (p.Asn1441Lys) c.4269T>G (p.Asn1423Lys) c.4230T>G (p.Asn1410Lys) c.4179T>G (p.Asn1393Lys) c.1311T>G (p.Asn437Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744195T= | CA2294858038 | ASXL3 | c.4350T= (p.Asn1450=) c.4347T= (p.Asn1449=) c.4227T= (p.Asn1409=) c.4323T= (p.Asn1441=) c.4269T= (p.Asn1423=) c.4230T= (p.Asn1410=) c.4179T= (p.Asn1393=) c.1311T= (p.Asn437=) | |
18 | g.33744196T>A | CA402190720 | ASXL3 | c.4351T>A (p.Ser1451Thr) c.4348T>A (p.Ser1450Thr) c.4228T>A (p.Ser1410Thr) c.4324T>A (p.Ser1442Thr) c.4270T>A (p.Ser1424Thr) c.4231T>A (p.Ser1411Thr) c.4180T>A (p.Ser1394Thr) c.1312T>A (p.Ser438Thr) | |
18 | g.33744196T>C | CA402190721 | ASXL3 | c.4351T>C (p.Ser1451Pro) c.4348T>C (p.Ser1450Pro) c.4228T>C (p.Ser1410Pro) c.4324T>C (p.Ser1442Pro) c.4270T>C (p.Ser1424Pro) c.4231T>C (p.Ser1411Pro) c.4180T>C (p.Ser1394Pro) c.1312T>C (p.Ser438Pro) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33744196T>G | CA402190722 | ASXL3 | c.4351T>G (p.Ser1451Ala) c.4348T>G (p.Ser1450Ala) c.4228T>G (p.Ser1410Ala) c.4324T>G (p.Ser1442Ala) c.4270T>G (p.Ser1424Ala) c.4231T>G (p.Ser1411Ala) c.4180T>G (p.Ser1394Ala) c.1312T>G (p.Ser438Ala) | gnomAD v4 |
18 | g.33744196T= | CA2294858039 | ASXL3 | c.4351T= (p.Ser1451=) c.4348T= (p.Ser1450=) c.4228T= (p.Ser1410=) c.4324T= (p.Ser1442=) c.4270T= (p.Ser1424=) c.4231T= (p.Ser1411=) c.4180T= (p.Ser1394=) c.1312T= (p.Ser438=) | |
18 | g.33744197C>A | CA402190723 | ASXL3 | c.4352C>A (p.Ser1451Tyr) c.4349C>A (p.Ser1450Tyr) c.4229C>A (p.Ser1410Tyr) c.4325C>A (p.Ser1442Tyr) c.4271C>A (p.Ser1424Tyr) c.4232C>A (p.Ser1411Tyr) c.4181C>A (p.Ser1394Tyr) c.1313C>A (p.Ser438Tyr) | |
18 | g.33744197C= | CA2294858040 | ASXL3 | c.4352C= (p.Ser1451=) c.4349C= (p.Ser1450=) c.4229C= (p.Ser1410=) c.4325C= (p.Ser1442=) c.4271C= (p.Ser1424=) c.4232C= (p.Ser1411=) c.4181C= (p.Ser1394=) c.1313C= (p.Ser438=) | |
18 | g.33744197C>G | CA402190724 | ASXL3 | c.4352C>G (p.Ser1451Cys) c.4349C>G (p.Ser1450Cys) c.4229C>G (p.Ser1410Cys) c.4325C>G (p.Ser1442Cys) c.4271C>G (p.Ser1424Cys) c.4232C>G (p.Ser1411Cys) c.4181C>G (p.Ser1394Cys) c.1313C>G (p.Ser438Cys) | dbSNP |
18 | g.33744197C>T | CA402190725 | ASXL3 | c.4352C>T (p.Ser1451Phe) c.4349C>T (p.Ser1450Phe) c.4229C>T (p.Ser1410Phe) c.4325C>T (p.Ser1442Phe) c.4271C>T (p.Ser1424Phe) c.4232C>T (p.Ser1411Phe) c.4181C>T (p.Ser1394Phe) c.1313C>T (p.Ser438Phe) | |
18 | g.33744198T>A | CA503770597 | ASXL3 | c.4353T>A (p.Ser1451=) c.4350T>A (p.Ser1450=) c.4230T>A (p.Ser1410=) c.4326T>A (p.Ser1442=) c.4272T>A (p.Ser1424=) c.4233T>A (p.Ser1411=) c.4182T>A (p.Ser1394=) c.1314T>A (p.Ser438=) | |
18 | g.33744198T>C | CA503770598 | ASXL3 | c.4353T>C (p.Ser1451=) c.4350T>C (p.Ser1450=) c.4230T>C (p.Ser1410=) c.4326T>C (p.Ser1442=) c.4272T>C (p.Ser1424=) c.4233T>C (p.Ser1411=) c.4182T>C (p.Ser1394=) c.1314T>C (p.Ser438=) | |
18 | g.33744198T>G | CA503770599 | ASXL3 | c.4353T>G (p.Ser1451=) c.4350T>G (p.Ser1450=) c.4230T>G (p.Ser1410=) c.4326T>G (p.Ser1442=) c.4272T>G (p.Ser1424=) c.4233T>G (p.Ser1411=) c.4182T>G (p.Ser1394=) c.1314T>G (p.Ser438=) | |
18 | g.33744199G>A | CA402190728 | ASXL3 | c.4354G>A (p.Gly1452Arg) c.4351G>A (p.Gly1451Arg) c.4231G>A (p.Gly1411Arg) c.4327G>A (p.Gly1443Arg) c.4273G>A (p.Gly1425Arg) c.4234G>A (p.Gly1412Arg) c.4183G>A (p.Gly1395Arg) c.1315G>A (p.Gly439Arg) | |
18 | g.33744199G>C | CA402190727 | ASXL3 | c.4354G>C (p.Gly1452Arg) c.4351G>C (p.Gly1451Arg) c.4231G>C (p.Gly1411Arg) c.4327G>C (p.Gly1443Arg) c.4273G>C (p.Gly1425Arg) c.4234G>C (p.Gly1412Arg) c.4183G>C (p.Gly1395Arg) c.1315G>C (p.Gly439Arg) | |
18 | g.33744199G>T | CA402190726 | ASXL3 | c.4354G>T (p.Gly1452Ter) c.4351G>T (p.Gly1451Ter) c.4231G>T (p.Gly1411Ter) c.4327G>T (p.Gly1443Ter) c.4273G>T (p.Gly1425Ter) c.4234G>T (p.Gly1412Ter) c.4183G>T (p.Gly1395Ter) c.1315G>T (p.Gly439Ter) | |
18 | g.33744200G>A | CA402190729 | ASXL3 | c.4355G>A (p.Gly1452Glu) c.4352G>A (p.Gly1451Glu) c.4232G>A (p.Gly1411Glu) c.4328G>A (p.Gly1443Glu) c.4274G>A (p.Gly1425Glu) c.4235G>A (p.Gly1412Glu) c.4184G>A (p.Gly1395Glu) c.1316G>A (p.Gly439Glu) | |
18 | g.33744200G>C | CA402190730 | ASXL3 | c.4355G>C (p.Gly1452Ala) c.4352G>C (p.Gly1451Ala) c.4232G>C (p.Gly1411Ala) c.4328G>C (p.Gly1443Ala) c.4274G>C (p.Gly1425Ala) c.4235G>C (p.Gly1412Ala) c.4184G>C (p.Gly1395Ala) c.1316G>C (p.Gly439Ala) | |
18 | g.33744200G>T | CA402190731 | ASXL3 | c.4355G>T (p.Gly1452Val) c.4352G>T (p.Gly1451Val) c.4232G>T (p.Gly1411Val) c.4328G>T (p.Gly1443Val) c.4274G>T (p.Gly1425Val) c.4235G>T (p.Gly1412Val) c.4184G>T (p.Gly1395Val) c.1316G>T (p.Gly439Val) | |
18 | g.33744201A>C | CA503770608 | ASXL3 | c.4356A>C (p.Gly1452=) c.4353A>C (p.Gly1451=) c.4233A>C (p.Gly1411=) c.4329A>C (p.Gly1443=) c.4275A>C (p.Gly1425=) c.4236A>C (p.Gly1412=) c.4185A>C (p.Gly1395=) c.1317A>C (p.Gly439=) | |
18 | g.33744201A>G | CA503770604 | ASXL3 | c.4356A>G (p.Gly1452=) c.4353A>G (p.Gly1451=) c.4233A>G (p.Gly1411=) c.4329A>G (p.Gly1443=) c.4275A>G (p.Gly1425=) c.4236A>G (p.Gly1412=) c.4185A>G (p.Gly1395=) c.1317A>G (p.Gly439=) | |
18 | g.33744201A>T | CA503770606 | ASXL3 | c.4356A>T (p.Gly1452=) c.4353A>T (p.Gly1451=) c.4233A>T (p.Gly1411=) c.4329A>T (p.Gly1443=) c.4275A>T (p.Gly1425=) c.4236A>T (p.Gly1412=) c.4185A>T (p.Gly1395=) c.1317A>T (p.Gly439=) | |
18 | g.33744204del | CA2580095668 | ASXL3 | c.4359del (p.Lys1453AsnfsTer14) c.4356del (p.Lys1452AsnfsTer14) c.4236del (p.Lys1412AsnfsTer14) c.4332del (p.Lys1444AsnfsTer14) c.4278del (p.Lys1426AsnfsTer14) c.4239del (p.Lys1413AsnfsTer14) c.4188del (p.Lys1396AsnfsTer14) c.1320del (p.Lys440AsnfsTer14) | ClinVar |
18 | g.33744202A>C | CA402190732 | ASXL3 | c.4357A>C (p.Lys1453Gln) c.4354A>C (p.Lys1452Gln) c.4234A>C (p.Lys1412Gln) c.4330A>C (p.Lys1444Gln) c.4276A>C (p.Lys1426Gln) c.4237A>C (p.Lys1413Gln) c.4186A>C (p.Lys1396Gln) c.1318A>C (p.Lys440Gln) | |
18 | g.33744202A>G | CA402190733 | ASXL3 | c.4357A>G (p.Lys1453Glu) c.4354A>G (p.Lys1452Glu) c.4234A>G (p.Lys1412Glu) c.4330A>G (p.Lys1444Glu) c.4276A>G (p.Lys1426Glu) c.4237A>G (p.Lys1413Glu) c.4186A>G (p.Lys1396Glu) c.1318A>G (p.Lys440Glu) | |
18 | g.33744202A>T | CA402190734 | ASXL3 | c.4357A>T (p.Lys1453Ter) c.4354A>T (p.Lys1452Ter) c.4234A>T (p.Lys1412Ter) c.4330A>T (p.Lys1444Ter) c.4276A>T (p.Lys1426Ter) c.4237A>T (p.Lys1413Ter) c.4186A>T (p.Lys1396Ter) c.1318A>T (p.Lys440Ter) | |
18 | g.33744203A>C | CA402190735 | ASXL3 | c.4358A>C (p.Lys1453Thr) c.4355A>C (p.Lys1452Thr) c.4235A>C (p.Lys1412Thr) c.4331A>C (p.Lys1444Thr) c.4277A>C (p.Lys1426Thr) c.4238A>C (p.Lys1413Thr) c.4187A>C (p.Lys1396Thr) c.1319A>C (p.Lys440Thr) | gnomAD v4 |
18 | g.33744203A>G | CA402190737 | ASXL3 | c.4358A>G (p.Lys1453Arg) c.4355A>G (p.Lys1452Arg) c.4235A>G (p.Lys1412Arg) c.4331A>G (p.Lys1444Arg) c.4277A>G (p.Lys1426Arg) c.4238A>G (p.Lys1413Arg) c.4187A>G (p.Lys1396Arg) c.1319A>G (p.Lys440Arg) | |
18 | g.33744203A>T | CA402190736 | ASXL3 | c.4358A>T (p.Lys1453Ile) c.4355A>T (p.Lys1452Ile) c.4235A>T (p.Lys1412Ile) c.4331A>T (p.Lys1444Ile) c.4277A>T (p.Lys1426Ile) c.4238A>T (p.Lys1413Ile) c.4187A>T (p.Lys1396Ile) c.1319A>T (p.Lys440Ile) | |
18 | g.33744204A>C | CA402190738 | ASXL3 | c.4359A>C (p.Lys1453Asn) c.4356A>C (p.Lys1452Asn) c.4236A>C (p.Lys1412Asn) c.4332A>C (p.Lys1444Asn) c.4278A>C (p.Lys1426Asn) c.4239A>C (p.Lys1413Asn) c.4188A>C (p.Lys1396Asn) c.1320A>C (p.Lys440Asn) | gnomAD v4 |
18 | g.33744204A>G | CA503770612 | ASXL3 | c.4359A>G (p.Lys1453=) c.4356A>G (p.Lys1452=) c.4236A>G (p.Lys1412=) c.4332A>G (p.Lys1444=) c.4278A>G (p.Lys1426=) c.4239A>G (p.Lys1413=) c.4188A>G (p.Lys1396=) c.1320A>G (p.Lys440=) | |
18 | g.33744204A>T | CA402190739 | ASXL3 | c.4359A>T (p.Lys1453Asn) c.4356A>T (p.Lys1452Asn) c.4236A>T (p.Lys1412Asn) c.4332A>T (p.Lys1444Asn) c.4278A>T (p.Lys1426Asn) c.4239A>T (p.Lys1413Asn) c.4188A>T (p.Lys1396Asn) c.1320A>T (p.Lys440Asn) | |
18 | g.33744205C>A | CA402190740 | ASXL3 | c.4360C>A (p.Pro1454Thr) c.4357C>A (p.Pro1453Thr) c.4237C>A (p.Pro1413Thr) c.4333C>A (p.Pro1445Thr) c.4279C>A (p.Pro1427Thr) c.4240C>A (p.Pro1414Thr) c.4189C>A (p.Pro1397Thr) c.1321C>A (p.Pro441Thr) | |
18 | g.33744205C= | CA2294858041 | ASXL3 | c.4360C= (p.Pro1454=) c.4357C= (p.Pro1453=) c.4237C= (p.Pro1413=) c.4333C= (p.Pro1445=) c.4279C= (p.Pro1427=) c.4240C= (p.Pro1414=) c.4189C= (p.Pro1397=) c.1321C= (p.Pro441=) | |
18 | g.33744205C>G | CA402190741 | ASXL3 | c.4360C>G (p.Pro1454Ala) c.4357C>G (p.Pro1453Ala) c.4237C>G (p.Pro1413Ala) c.4333C>G (p.Pro1445Ala) c.4279C>G (p.Pro1427Ala) c.4240C>G (p.Pro1414Ala) c.4189C>G (p.Pro1397Ala) c.1321C>G (p.Pro441Ala) | |
18 | g.33744205C>T | CA402190742 | ASXL3 | c.4360C>T (p.Pro1454Ser) c.4357C>T (p.Pro1453Ser) c.4237C>T (p.Pro1413Ser) c.4333C>T (p.Pro1445Ser) c.4279C>T (p.Pro1427Ser) c.4240C>T (p.Pro1414Ser) c.4189C>T (p.Pro1397Ser) c.1321C>T (p.Pro441Ser) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33744206C>A | CA402190743 | ASXL3 | c.4361C>A (p.Pro1454His) c.4358C>A (p.Pro1453His) c.4238C>A (p.Pro1413His) c.4334C>A (p.Pro1445His) c.4280C>A (p.Pro1427His) c.4241C>A (p.Pro1414His) c.4190C>A (p.Pro1397His) c.1322C>A (p.Pro441His) | |
18 | g.33744206C>G | CA402190744 | ASXL3 | c.4361C>G (p.Pro1454Arg) c.4358C>G (p.Pro1453Arg) c.4238C>G (p.Pro1413Arg) c.4334C>G (p.Pro1445Arg) c.4280C>G (p.Pro1427Arg) c.4241C>G (p.Pro1414Arg) c.4190C>G (p.Pro1397Arg) c.1322C>G (p.Pro441Arg) | |
18 | g.33744206C>T | CA402190745 | ASXL3 | c.4361C>T (p.Pro1454Leu) c.4358C>T (p.Pro1453Leu) c.4238C>T (p.Pro1413Leu) c.4334C>T (p.Pro1445Leu) c.4280C>T (p.Pro1427Leu) c.4241C>T (p.Pro1414Leu) c.4190C>T (p.Pro1397Leu) c.1322C>T (p.Pro441Leu) | |
18 | g.33744207T>A | CA503770623 | ASXL3 | c.4362T>A (p.Pro1454=) c.4359T>A (p.Pro1453=) c.4239T>A (p.Pro1413=) c.4335T>A (p.Pro1445=) c.4281T>A (p.Pro1427=) c.4242T>A (p.Pro1414=) c.4191T>A (p.Pro1397=) c.1323T>A (p.Pro441=) | |
18 | g.33744207T>C | CA503770626 | ASXL3 | c.4362T>C (p.Pro1454=) c.4359T>C (p.Pro1453=) c.4239T>C (p.Pro1413=) c.4335T>C (p.Pro1445=) c.4281T>C (p.Pro1427=) c.4242T>C (p.Pro1414=) c.4191T>C (p.Pro1397=) c.1323T>C (p.Pro441=) | |
18 | g.33744207T>G | CA8934245 | ASXL3 | c.4362T>G (p.Pro1454=) c.4359T>G (p.Pro1453=) c.4239T>G (p.Pro1413=) c.4335T>G (p.Pro1445=) c.4281T>G (p.Pro1427=) c.4242T>G (p.Pro1414=) c.4191T>G (p.Pro1397=) c.1323T>G (p.Pro441=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744207T= | CA2294858042 | ASXL3 | c.4362T= (p.Pro1454=) c.4359T= (p.Pro1453=) c.4239T= (p.Pro1413=) c.4335T= (p.Pro1445=) c.4281T= (p.Pro1427=) c.4242T= (p.Pro1414=) c.4191T= (p.Pro1397=) c.1323T= (p.Pro441=) | |
18 | g.33744208C>A | CA402190746 | ASXL3 | c.4363C>A (p.Gln1455Lys) c.4360C>A (p.Gln1454Lys) c.4240C>A (p.Gln1414Lys) c.4336C>A (p.Gln1446Lys) c.4282C>A (p.Gln1428Lys) c.4243C>A (p.Gln1415Lys) c.4192C>A (p.Gln1398Lys) c.1324C>A (p.Gln442Lys) | |
18 | g.33744208C= | CA2294858043 | ASXL3 | c.4363C= (p.Gln1455=) c.4360C= (p.Gln1454=) c.4240C= (p.Gln1414=) c.4336C= (p.Gln1446=) c.4282C= (p.Gln1428=) c.4243C= (p.Gln1415=) c.4192C= (p.Gln1398=) c.1324C= (p.Gln442=) | |
18 | g.33744208C>G | CA402190747 | ASXL3 | c.4363C>G (p.Gln1455Glu) c.4360C>G (p.Gln1454Glu) c.4240C>G (p.Gln1414Glu) c.4336C>G (p.Gln1446Glu) c.4282C>G (p.Gln1428Glu) c.4243C>G (p.Gln1415Glu) c.4192C>G (p.Gln1398Glu) c.1324C>G (p.Gln442Glu) | |
18 | g.33744208C>T | CA16620687 | ASXL3 | c.4363C>T (p.Gln1455Ter) c.4360C>T (p.Gln1454Ter) c.4240C>T (p.Gln1414Ter) c.4336C>T (p.Gln1446Ter) c.4282C>T (p.Gln1428Ter) c.4243C>T (p.Gln1415Ter) c.4192C>T (p.Gln1398Ter) c.1324C>T (p.Gln442Ter) | ClinVar dbSNP |
18 | g.33744209A>C | CA402190749 | ASXL3 | c.4364A>C (p.Gln1455Pro) c.4361A>C (p.Gln1454Pro) c.4241A>C (p.Gln1414Pro) c.4337A>C (p.Gln1446Pro) c.4283A>C (p.Gln1428Pro) c.4244A>C (p.Gln1415Pro) c.4193A>C (p.Gln1398Pro) c.1325A>C (p.Gln442Pro) | |
18 | g.33744209A>G | CA402190750 | ASXL3 | c.4364A>G (p.Gln1455Arg) c.4361A>G (p.Gln1454Arg) c.4241A>G (p.Gln1414Arg) c.4337A>G (p.Gln1446Arg) c.4283A>G (p.Gln1428Arg) c.4244A>G (p.Gln1415Arg) c.4193A>G (p.Gln1398Arg) c.1325A>G (p.Gln442Arg) | |
18 | g.33744209A>T | CA402190748 | ASXL3 | c.4364A>T (p.Gln1455Leu) c.4361A>T (p.Gln1454Leu) c.4241A>T (p.Gln1414Leu) c.4337A>T (p.Gln1446Leu) c.4283A>T (p.Gln1428Leu) c.4244A>T (p.Gln1415Leu) c.4193A>T (p.Gln1398Leu) c.1325A>T (p.Gln442Leu) | |
18 | g.33744210G>A | CA503770630 | ASXL3 | c.4365G>A (p.Gln1455=) c.4362G>A (p.Gln1454=) c.4242G>A (p.Gln1414=) c.4338G>A (p.Gln1446=) c.4284G>A (p.Gln1428=) c.4245G>A (p.Gln1415=) c.4194G>A (p.Gln1398=) c.1326G>A (p.Gln442=) | gnomAD v4 |
18 | g.33744210G>C | CA402190751 | ASXL3 | c.4365G>C (p.Gln1455His) c.4362G>C (p.Gln1454His) c.4242G>C (p.Gln1414His) c.4338G>C (p.Gln1446His) c.4284G>C (p.Gln1428His) c.4245G>C (p.Gln1415His) c.4194G>C (p.Gln1398His) c.1326G>C (p.Gln442His) | |
18 | g.33744210G>T | CA402190752 | ASXL3 | c.4365G>T (p.Gln1455His) c.4362G>T (p.Gln1454His) c.4242G>T (p.Gln1414His) c.4338G>T (p.Gln1446His) c.4284G>T (p.Gln1428His) c.4245G>T (p.Gln1415His) c.4194G>T (p.Gln1398His) c.1326G>T (p.Gln442His) | |
18 | g.33744211C>A | CA402190753 | ASXL3 | c.4366C>A (p.Gln1456Lys) c.4363C>A (p.Gln1455Lys) c.4243C>A (p.Gln1415Lys) c.4339C>A (p.Gln1447Lys) c.4285C>A (p.Gln1429Lys) c.4246C>A (p.Gln1416Lys) c.4195C>A (p.Gln1399Lys) c.1327C>A (p.Gln443Lys) | |
18 | g.33744211C>G | CA402190754 | ASXL3 | c.4366C>G (p.Gln1456Glu) c.4363C>G (p.Gln1455Glu) c.4243C>G (p.Gln1415Glu) c.4339C>G (p.Gln1447Glu) c.4285C>G (p.Gln1429Glu) c.4246C>G (p.Gln1416Glu) c.4195C>G (p.Gln1399Glu) c.1327C>G (p.Gln443Glu) | |
18 | g.33744211C>T | CA402190755 | ASXL3 | c.4366C>T (p.Gln1456Ter) c.4363C>T (p.Gln1455Ter) c.4243C>T (p.Gln1415Ter) c.4339C>T (p.Gln1447Ter) c.4285C>T (p.Gln1429Ter) c.4246C>T (p.Gln1416Ter) c.4195C>T (p.Gln1399Ter) c.1327C>T (p.Gln443Ter) | |
18 | g.33744212A>C | CA402190758 | ASXL3 | c.4367A>C (p.Gln1456Pro) c.4364A>C (p.Gln1455Pro) c.4244A>C (p.Gln1415Pro) c.4340A>C (p.Gln1447Pro) c.4286A>C (p.Gln1429Pro) c.4247A>C (p.Gln1416Pro) c.4196A>C (p.Gln1399Pro) c.1328A>C (p.Gln443Pro) | |
18 | g.33744212A>G | CA402190756 | ASXL3 | c.4367A>G (p.Gln1456Arg) c.4364A>G (p.Gln1455Arg) c.4244A>G (p.Gln1415Arg) c.4340A>G (p.Gln1447Arg) c.4286A>G (p.Gln1429Arg) c.4247A>G (p.Gln1416Arg) c.4196A>G (p.Gln1399Arg) c.1328A>G (p.Gln443Arg) | |
18 | g.33744212A>T | CA402190757 | ASXL3 | c.4367A>T (p.Gln1456Leu) c.4364A>T (p.Gln1455Leu) c.4244A>T (p.Gln1415Leu) c.4340A>T (p.Gln1447Leu) c.4286A>T (p.Gln1429Leu) c.4247A>T (p.Gln1416Leu) c.4196A>T (p.Gln1399Leu) c.1328A>T (p.Gln443Leu) | |
18 | g.33744213A>C | CA402190759 | ASXL3 | c.4368A>C (p.Gln1456His) c.4365A>C (p.Gln1455His) c.4245A>C (p.Gln1415His) c.4341A>C (p.Gln1447His) c.4287A>C (p.Gln1429His) c.4248A>C (p.Gln1416His) c.4197A>C (p.Gln1399His) c.1329A>C (p.Gln443His) | |
18 | g.33744213A>G | CA503770639 | ASXL3 | c.4368A>G (p.Gln1456=) c.4365A>G (p.Gln1455=) c.4245A>G (p.Gln1415=) c.4341A>G (p.Gln1447=) c.4287A>G (p.Gln1429=) c.4248A>G (p.Gln1416=) c.4197A>G (p.Gln1399=) c.1329A>G (p.Gln443=) | |
18 | g.33744213A>T | CA402190760 | ASXL3 | c.4368A>T (p.Gln1456His) c.4365A>T (p.Gln1455His) c.4245A>T (p.Gln1415His) c.4341A>T (p.Gln1447His) c.4287A>T (p.Gln1429His) c.4248A>T (p.Gln1416His) c.4197A>T (p.Gln1399His) c.1329A>T (p.Gln443His) | |
18 | g.33744214C>A | CA402190761 | ASXL3 | c.4369C>A (p.Pro1457Thr) c.4366C>A (p.Pro1456Thr) c.4246C>A (p.Pro1416Thr) c.4342C>A (p.Pro1448Thr) c.4288C>A (p.Pro1430Thr) c.4249C>A (p.Pro1417Thr) c.4198C>A (p.Pro1400Thr) c.1330C>A (p.Pro444Thr) | |
18 | g.33744214C= | CA2294858044 | ASXL3 | c.4369C= (p.Pro1457=) c.4366C= (p.Pro1456=) c.4246C= (p.Pro1416=) c.4342C= (p.Pro1448=) c.4288C= (p.Pro1430=) c.4249C= (p.Pro1417=) c.4198C= (p.Pro1400=) c.1330C= (p.Pro444=) | |
18 | g.33744214C>G | CA8934246 | ASXL3 | c.4369C>G (p.Pro1457Ala) c.4366C>G (p.Pro1456Ala) c.4246C>G (p.Pro1416Ala) c.4342C>G (p.Pro1448Ala) c.4288C>G (p.Pro1430Ala) c.4249C>G (p.Pro1417Ala) c.4198C>G (p.Pro1400Ala) c.1330C>G (p.Pro444Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744214C>T | CA402190762 | ASXL3 | c.4369C>T (p.Pro1457Ser) c.4366C>T (p.Pro1456Ser) c.4246C>T (p.Pro1416Ser) c.4342C>T (p.Pro1448Ser) c.4288C>T (p.Pro1430Ser) c.4249C>T (p.Pro1417Ser) c.4198C>T (p.Pro1400Ser) c.1330C>T (p.Pro444Ser) | |
18 | g.33744214_33744229delinsCCACCAGGGGGCTTTG | CA2294858045 | ASXL3 | c.4369_4384delinsCCACCAGGGGGCTTTG (p.Pro1457=) c.4366_4381delinsCCACCAGGGGGCTTTG (p.Pro1456=) c.4246_4261delinsCCACCAGGGGGCTTTG (p.Pro1416=) c.4342_4357delinsCCACCAGGGGGCTTTG (p.Pro1448=) c.4288_4303delinsCCACCAGGGGGCTTTG (p.Pro1430=) c.4249_4264delinsCCACCAGGGGGCTTTG (p.Pro1417=) c.4198_4213delinsCCACCAGGGGGCTTTG (p.Pro1400=) c.1330_1345delinsCCACCAGGGGGCTTTG (p.Pro444=) | |
18 | g.33744215C>A | CA402190763 | ASXL3 | c.4370C>A (p.Pro1457Gln) c.4367C>A (p.Pro1456Gln) c.4247C>A (p.Pro1416Gln) c.4343C>A (p.Pro1448Gln) c.4289C>A (p.Pro1430Gln) c.4250C>A (p.Pro1417Gln) c.4199C>A (p.Pro1400Gln) c.1331C>A (p.Pro444Gln) | |
18 | g.33744215C>G | CA402190764 | ASXL3 | c.4370C>G (p.Pro1457Arg) c.4367C>G (p.Pro1456Arg) c.4247C>G (p.Pro1416Arg) c.4343C>G (p.Pro1448Arg) c.4289C>G (p.Pro1430Arg) c.4250C>G (p.Pro1417Arg) c.4199C>G (p.Pro1400Arg) c.1331C>G (p.Pro444Arg) | |
18 | g.33744215C>T | CA402190765 | ASXL3 | c.4370C>T (p.Pro1457Leu) c.4367C>T (p.Pro1456Leu) c.4247C>T (p.Pro1416Leu) c.4343C>T (p.Pro1448Leu) c.4289C>T (p.Pro1430Leu) c.4250C>T (p.Pro1417Leu) c.4199C>T (p.Pro1400Leu) c.1331C>T (p.Pro444Leu) | ClinVar dbSNP gnomAD v4 |
18 | g.33744221_33744235del | CA8934247 | ASXL3 | c.4376_4390del (p.Gly1459_Pro1463del) c.4373_4387del (p.Gly1458_Pro1462del) c.4253_4267del (p.Gly1418_Pro1422del) c.4349_4363del (p.Gly1450_Pro1454del) c.4295_4309del (p.Gly1432_Pro1436del) c.4256_4270del (p.Gly1419_Pro1423del) c.4205_4219del (p.Gly1402_Pro1406del) c.1337_1351del (p.Gly446_Pro450del) | dbSNP ExAC gnomAD v4 |
18 | g.33744216A>C | CA503770068 | ASXL3 | c.4371A>C (p.Pro1457=) c.4368A>C (p.Pro1456=) c.4248A>C (p.Pro1416=) c.4344A>C (p.Pro1448=) c.4290A>C (p.Pro1430=) c.4251A>C (p.Pro1417=) c.4200A>C (p.Pro1400=) c.1332A>C (p.Pro444=) | |
18 | g.33744216A>G | CA503770097 | ASXL3 | c.4371A>G (p.Pro1457=) c.4368A>G (p.Pro1456=) c.4248A>G (p.Pro1416=) c.4344A>G (p.Pro1448=) c.4290A>G (p.Pro1430=) c.4251A>G (p.Pro1417=) c.4200A>G (p.Pro1400=) c.1332A>G (p.Pro444=) | |
18 | g.33744216A>T | CA503770064 | ASXL3 | c.4371A>T (p.Pro1457=) c.4368A>T (p.Pro1456=) c.4248A>T (p.Pro1416=) c.4344A>T (p.Pro1448=) c.4290A>T (p.Pro1430=) c.4251A>T (p.Pro1417=) c.4200A>T (p.Pro1400=) c.1332A>T (p.Pro444=) | |
18 | g.33744217C>A | CA402190768 | ASXL3 | c.4372C>A (p.Pro1458Thr) c.4369C>A (p.Pro1457Thr) c.4249C>A (p.Pro1417Thr) c.4345C>A (p.Pro1449Thr) c.4291C>A (p.Pro1431Thr) c.4252C>A (p.Pro1418Thr) c.4201C>A (p.Pro1401Thr) c.1333C>A (p.Pro445Thr) | |
18 | g.33744217C>G | CA402190766 | ASXL3 | c.4372C>G (p.Pro1458Ala) c.4369C>G (p.Pro1457Ala) c.4249C>G (p.Pro1417Ala) c.4345C>G (p.Pro1449Ala) c.4291C>G (p.Pro1431Ala) c.4252C>G (p.Pro1418Ala) c.4201C>G (p.Pro1401Ala) c.1333C>G (p.Pro445Ala) | gnomAD v4 |
18 | g.33744217C>T | CA402190767 | ASXL3 | c.4372C>T (p.Pro1458Ser) c.4369C>T (p.Pro1457Ser) c.4249C>T (p.Pro1417Ser) c.4345C>T (p.Pro1449Ser) c.4291C>T (p.Pro1431Ser) c.4252C>T (p.Pro1418Ser) c.4201C>T (p.Pro1401Ser) c.1333C>T (p.Pro445Ser) | |
18 | g.33744218C>A | CA402190769 | ASXL3 | c.4373C>A (p.Pro1458Gln) c.4370C>A (p.Pro1457Gln) c.4250C>A (p.Pro1417Gln) c.4346C>A (p.Pro1449Gln) c.4292C>A (p.Pro1431Gln) c.4253C>A (p.Pro1418Gln) c.4202C>A (p.Pro1401Gln) c.1334C>A (p.Pro445Gln) | |
18 | g.33744218C= | CA2294858046 | ASXL3 | c.4373C= (p.Pro1458=) c.4370C= (p.Pro1457=) c.4250C= (p.Pro1417=) c.4346C= (p.Pro1449=) c.4292C= (p.Pro1431=) c.4253C= (p.Pro1418=) c.4202C= (p.Pro1401=) c.1334C= (p.Pro445=) | |
18 | g.33744218C>G | CA402190770 | ASXL3 | c.4373C>G (p.Pro1458Arg) c.4370C>G (p.Pro1457Arg) c.4250C>G (p.Pro1417Arg) c.4346C>G (p.Pro1449Arg) c.4292C>G (p.Pro1431Arg) c.4253C>G (p.Pro1418Arg) c.4202C>G (p.Pro1401Arg) c.1334C>G (p.Pro445Arg) | dbSNP |
18 | g.33744218C>T | CA402190771 | ASXL3 | c.4373C>T (p.Pro1458Leu) c.4370C>T (p.Pro1457Leu) c.4250C>T (p.Pro1417Leu) c.4346C>T (p.Pro1449Leu) c.4292C>T (p.Pro1431Leu) c.4253C>T (p.Pro1418Leu) c.4202C>T (p.Pro1401Leu) c.1334C>T (p.Pro445Leu) | |
18 | g.33744219A>C | CA503770102 | ASXL3 | c.4374A>C (p.Pro1458=) c.4371A>C (p.Pro1457=) c.4251A>C (p.Pro1417=) c.4347A>C (p.Pro1449=) c.4293A>C (p.Pro1431=) c.4254A>C (p.Pro1418=) c.4203A>C (p.Pro1401=) c.1335A>C (p.Pro445=) | |
18 | g.33744219A>G | CA503770103 | ASXL3 | c.4374A>G (p.Pro1458=) c.4371A>G (p.Pro1457=) c.4251A>G (p.Pro1417=) c.4347A>G (p.Pro1449=) c.4293A>G (p.Pro1431=) c.4254A>G (p.Pro1418=) c.4203A>G (p.Pro1401=) c.1335A>G (p.Pro445=) | |
18 | g.33744219A>T | CA503770104 | ASXL3 | c.4374A>T (p.Pro1458=) c.4371A>T (p.Pro1457=) c.4251A>T (p.Pro1417=) c.4347A>T (p.Pro1449=) c.4293A>T (p.Pro1431=) c.4254A>T (p.Pro1418=) c.4203A>T (p.Pro1401=) c.1335A>T (p.Pro445=) | |
18 | g.33744219_33744220delinsAG | CA2294858047 | ASXL3 | c.4374_4375delinsAG (p.Pro1458=) c.4371_4372delinsAG (p.Pro1457=) c.4251_4252delinsAG (p.Pro1417=) c.4347_4348delinsAG (p.Pro1449=) c.4293_4294delinsAG (p.Pro1431=) c.4254_4255delinsAG (p.Pro1418=) c.4203_4204delinsAG (p.Pro1401=) c.1335_1336delinsAG (p.Pro445=) | |
18 | g.33744220G>A | CA402190772 | ASXL3 | c.4375G>A (p.Gly1459Arg) c.4372G>A (p.Gly1458Arg) c.4252G>A (p.Gly1418Arg) c.4348G>A (p.Gly1450Arg) c.4294G>A (p.Gly1432Arg) c.4255G>A (p.Gly1419Arg) c.4204G>A (p.Gly1402Arg) c.1336G>A (p.Gly446Arg) | COSMIC |
18 | g.33744220G>C | CA402190773 | ASXL3 | c.4375G>C (p.Gly1459Arg) c.4372G>C (p.Gly1458Arg) c.4252G>C (p.Gly1418Arg) c.4348G>C (p.Gly1450Arg) c.4294G>C (p.Gly1432Arg) c.4255G>C (p.Gly1419Arg) c.4204G>C (p.Gly1402Arg) c.1336G>C (p.Gly446Arg) | |
18 | g.33744220G>T | CA402190774 | ASXL3 | c.4375G>T (p.Gly1459Trp) c.4372G>T (p.Gly1458Trp) c.4252G>T (p.Gly1418Trp) c.4348G>T (p.Gly1450Trp) c.4294G>T (p.Gly1432Trp) c.4255G>T (p.Gly1419Trp) c.4204G>T (p.Gly1402Trp) c.1336G>T (p.Gly446Trp) | |
18 | g.33744224dup | CA2832577465 | ASXL3 | c.4379dup (p.Phe1461LeufsTer13) c.4376dup (p.Phe1460LeufsTer13) c.4256dup (p.Phe1420LeufsTer13) c.4352dup (p.Phe1452LeufsTer13) c.4298dup (p.Phe1434LeufsTer13) c.4259dup (p.Phe1421LeufsTer13) c.4208dup (p.Phe1404LeufsTer13) c.1340dup (p.Phe448LeufsTer13) | |
18 | g.33744224del | CA915952508 | ASXL3 | c.4379del (p.Gly1460AlafsTer7) c.4376del (p.Gly1459AlafsTer7) c.4256del (p.Gly1419AlafsTer7) c.4352del (p.Gly1451AlafsTer7) c.4298del (p.Gly1433AlafsTer7) c.4259del (p.Gly1420AlafsTer7) c.4208del (p.Gly1403AlafsTer7) c.1340del (p.Gly447AlafsTer7) | ClinVar dbSNP |
18 | g.33744221G>A | CA402190775 | ASXL3 | c.4376G>A (p.Gly1459Glu) c.4373G>A (p.Gly1458Glu) c.4253G>A (p.Gly1418Glu) c.4349G>A (p.Gly1450Glu) c.4295G>A (p.Gly1432Glu) c.4256G>A (p.Gly1419Glu) c.4205G>A (p.Gly1402Glu) c.1337G>A (p.Gly446Glu) | |
18 | g.33744221G>C | CA402190776 | ASXL3 | c.4376G>C (p.Gly1459Ala) c.4373G>C (p.Gly1458Ala) c.4253G>C (p.Gly1418Ala) c.4349G>C (p.Gly1450Ala) c.4295G>C (p.Gly1432Ala) c.4256G>C (p.Gly1419Ala) c.4205G>C (p.Gly1402Ala) c.1337G>C (p.Gly446Ala) | |
18 | g.33744221G>T | CA402190777 | ASXL3 | c.4376G>T (p.Gly1459Val) c.4373G>T (p.Gly1458Val) c.4253G>T (p.Gly1418Val) c.4349G>T (p.Gly1450Val) c.4295G>T (p.Gly1432Val) c.4256G>T (p.Gly1419Val) c.4205G>T (p.Gly1402Val) c.1337G>T (p.Gly446Val) | |
18 | g.33744222G>A | CA503770115 | ASXL3 | c.4377G>A (p.Gly1459=) c.4374G>A (p.Gly1458=) c.4254G>A (p.Gly1418=) c.4350G>A (p.Gly1450=) c.4296G>A (p.Gly1432=) c.4257G>A (p.Gly1419=) c.4206G>A (p.Gly1402=) c.1338G>A (p.Gly446=) | dbSNP gnomAD v4 |
18 | g.33744222G>C | CA503770120 | ASXL3 | c.4377G>C (p.Gly1459=) c.4374G>C (p.Gly1458=) c.4254G>C (p.Gly1418=) c.4350G>C (p.Gly1450=) c.4296G>C (p.Gly1432=) c.4257G>C (p.Gly1419=) c.4206G>C (p.Gly1402=) c.1338G>C (p.Gly446=) | |
18 | g.33744222G>T | CA503770122 | ASXL3 | c.4377G>T (p.Gly1459=) c.4374G>T (p.Gly1458=) c.4254G>T (p.Gly1418=) c.4350G>T (p.Gly1450=) c.4296G>T (p.Gly1432=) c.4257G>T (p.Gly1419=) c.4206G>T (p.Gly1402=) c.1338G>T (p.Gly446=) | |
18 | g.33744223G>A | CA402190780 | ASXL3 | c.4378G>A (p.Gly1460Ser) c.4375G>A (p.Gly1459Ser) c.4255G>A (p.Gly1419Ser) c.4351G>A (p.Gly1451Ser) c.4297G>A (p.Gly1433Ser) c.4258G>A (p.Gly1420Ser) c.4207G>A (p.Gly1403Ser) c.1339G>A (p.Gly447Ser) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33744223G>C | CA402190779 | ASXL3 | c.4378G>C (p.Gly1460Arg) c.4375G>C (p.Gly1459Arg) c.4255G>C (p.Gly1419Arg) c.4351G>C (p.Gly1451Arg) c.4297G>C (p.Gly1433Arg) c.4258G>C (p.Gly1420Arg) c.4207G>C (p.Gly1403Arg) c.1339G>C (p.Gly447Arg) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33744223G= | CA2294858048 | ASXL3 | c.4378G= (p.Gly1460=) c.4375G= (p.Gly1459=) c.4255G= (p.Gly1419=) c.4351G= (p.Gly1451=) c.4297G= (p.Gly1433=) c.4258G= (p.Gly1420=) c.4207G= (p.Gly1403=) c.1339G= (p.Gly447=) | |
18 | g.33744223G>T | CA402190778 | ASXL3 | c.4378G>T (p.Gly1460Cys) c.4375G>T (p.Gly1459Cys) c.4255G>T (p.Gly1419Cys) c.4351G>T (p.Gly1451Cys) c.4297G>T (p.Gly1433Cys) c.4258G>T (p.Gly1420Cys) c.4207G>T (p.Gly1403Cys) c.1339G>T (p.Gly447Cys) | gnomAD v4 COSMIC |
18 | g.33744224G>A | CA402190781 | ASXL3 | c.4379G>A (p.Gly1460Asp) c.4376G>A (p.Gly1459Asp) c.4256G>A (p.Gly1419Asp) c.4352G>A (p.Gly1451Asp) c.4298G>A (p.Gly1433Asp) c.4259G>A (p.Gly1420Asp) c.4208G>A (p.Gly1403Asp) c.1340G>A (p.Gly447Asp) | gnomAD v4 |
18 | g.33744224G>C | CA8934248 | ASXL3 | c.4379G>C (p.Gly1460Ala) c.4376G>C (p.Gly1459Ala) c.4256G>C (p.Gly1419Ala) c.4352G>C (p.Gly1451Ala) c.4298G>C (p.Gly1433Ala) c.4259G>C (p.Gly1420Ala) c.4208G>C (p.Gly1403Ala) c.1340G>C (p.Gly447Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744224G= | CA2294858049 | ASXL3 | c.4379G= (p.Gly1460=) c.4376G= (p.Gly1459=) c.4256G= (p.Gly1419=) c.4352G= (p.Gly1451=) c.4298G= (p.Gly1433=) c.4259G= (p.Gly1420=) c.4208G= (p.Gly1403=) c.1340G= (p.Gly447=) | |
18 | g.33744224G>T | CA402190782 | ASXL3 | c.4379G>T (p.Gly1460Val) c.4376G>T (p.Gly1459Val) c.4256G>T (p.Gly1419Val) c.4352G>T (p.Gly1451Val) c.4298G>T (p.Gly1433Val) c.4259G>T (p.Gly1420Val) c.4208G>T (p.Gly1403Val) c.1340G>T (p.Gly447Val) | dbSNP gnomAD v4 |
18 | g.33744225del | CA2695227405 | ASXL3 | c.4380del (p.Phe1461LeufsTer6) c.4377del (p.Phe1460LeufsTer6) c.4257del (p.Phe1420LeufsTer6) c.4353del (p.Phe1452LeufsTer6) c.4299del (p.Phe1434LeufsTer6) c.4260del (p.Phe1421LeufsTer6) c.4209del (p.Phe1404LeufsTer6) c.1341del (p.Phe448LeufsTer6) | |
18 | g.33744225C>A | CA503770128 | ASXL3 | c.4380C>A (p.Gly1460=) c.4377C>A (p.Gly1459=) c.4257C>A (p.Gly1419=) c.4353C>A (p.Gly1451=) c.4299C>A (p.Gly1433=) c.4260C>A (p.Gly1420=) c.4209C>A (p.Gly1403=) c.1341C>A (p.Gly447=) | |
18 | g.33744225C= | CA2294858050 | ASXL3 | c.4380C= (p.Gly1460=) c.4377C= (p.Gly1459=) c.4257C= (p.Gly1419=) c.4353C= (p.Gly1451=) c.4299C= (p.Gly1433=) c.4260C= (p.Gly1420=) c.4209C= (p.Gly1403=) c.1341C= (p.Gly447=) | |
18 | g.33744225C>G | CA503770131 | ASXL3 | c.4380C>G (p.Gly1460=) c.4377C>G (p.Gly1459=) c.4257C>G (p.Gly1419=) c.4353C>G (p.Gly1451=) c.4299C>G (p.Gly1433=) c.4260C>G (p.Gly1420=) c.4209C>G (p.Gly1403=) c.1341C>G (p.Gly447=) | |
18 | g.33744225C>T | CA8934249 | ASXL3 | c.4380C>T (p.Gly1460=) c.4377C>T (p.Gly1459=) c.4257C>T (p.Gly1419=) c.4353C>T (p.Gly1451=) c.4299C>T (p.Gly1433=) c.4260C>T (p.Gly1420=) c.4209C>T (p.Gly1403=) c.1341C>T (p.Gly447=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744226T>A | CA402190783 | ASXL3 | c.4381T>A (p.Phe1461Ile) c.4378T>A (p.Phe1460Ile) c.4258T>A (p.Phe1420Ile) c.4354T>A (p.Phe1452Ile) c.4300T>A (p.Phe1434Ile) c.4261T>A (p.Phe1421Ile) c.4210T>A (p.Phe1404Ile) c.1342T>A (p.Phe448Ile) | |
18 | g.33744226T>C | CA402190784 | ASXL3 | c.4381T>C (p.Phe1461Leu) c.4378T>C (p.Phe1460Leu) c.4258T>C (p.Phe1420Leu) c.4354T>C (p.Phe1452Leu) c.4300T>C (p.Phe1434Leu) c.4261T>C (p.Phe1421Leu) c.4210T>C (p.Phe1404Leu) c.1342T>C (p.Phe448Leu) | |
18 | g.33744226T>G | CA402190785 | ASXL3 | c.4381T>G (p.Phe1461Val) c.4378T>G (p.Phe1460Val) c.4258T>G (p.Phe1420Val) c.4354T>G (p.Phe1452Val) c.4300T>G (p.Phe1434Val) c.4261T>G (p.Phe1421Val) c.4210T>G (p.Phe1404Val) c.1342T>G (p.Phe448Val) |