| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.33744108G>A | CA402190536 | ASXL3 | c.4263G>A (p.Met1421Ile) c.4260G>A (p.Met1420Ile) c.4140G>A (p.Met1380Ile) c.4236G>A (p.Met1412Ile) c.4182G>A (p.Met1394Ile) c.4143G>A (p.Met1381Ile) c.4092G>A (p.Met1364Ile) c.1224G>A (p.Met408Ile) | |
| 18 | g.33744108G>C | CA402190537 | ASXL3 | c.4263G>C (p.Met1421Ile) c.4260G>C (p.Met1420Ile) c.4140G>C (p.Met1380Ile) c.4236G>C (p.Met1412Ile) c.4182G>C (p.Met1394Ile) c.4143G>C (p.Met1381Ile) c.4092G>C (p.Met1364Ile) c.1224G>C (p.Met408Ile) | gnomAD v4 |
| 18 | g.33744108G>T | CA402190538 | ASXL3 | c.4263G>T (p.Met1421Ile) c.4260G>T (p.Met1420Ile) c.4140G>T (p.Met1380Ile) c.4236G>T (p.Met1412Ile) c.4182G>T (p.Met1394Ile) c.4143G>T (p.Met1381Ile) c.4092G>T (p.Met1364Ile) c.1224G>T (p.Met408Ile) | |
| 18 | g.33744109C>A | CA402190539 | ASXL3 | c.4264C>A (p.Leu1422Met) c.4261C>A (p.Leu1421Met) c.4141C>A (p.Leu1381Met) c.4237C>A (p.Leu1413Met) c.4183C>A (p.Leu1395Met) c.4144C>A (p.Leu1382Met) c.4093C>A (p.Leu1365Met) c.1225C>A (p.Leu409Met) | |
| 18 | g.33744109C= | CA2294857996 | ASXL3 | c.4264C= (p.Leu1422=) c.4261C= (p.Leu1421=) c.4141C= (p.Leu1381=) c.4237C= (p.Leu1413=) c.4183C= (p.Leu1395=) c.4144C= (p.Leu1382=) c.4093C= (p.Leu1365=) c.1225C= (p.Leu409=) | |
| 18 | g.33744109C>G | CA402190540 | ASXL3 | c.4264C>G (p.Leu1422Val) c.4261C>G (p.Leu1421Val) c.4141C>G (p.Leu1381Val) c.4237C>G (p.Leu1413Val) c.4183C>G (p.Leu1395Val) c.4144C>G (p.Leu1382Val) c.4093C>G (p.Leu1365Val) c.1225C>G (p.Leu409Val) | |
| 18 | g.33744109C>T | CA503770365 | ASXL3 | c.4264C>T (p.Leu1422=) c.4261C>T (p.Leu1421=) c.4141C>T (p.Leu1381=) c.4237C>T (p.Leu1413=) c.4183C>T (p.Leu1395=) c.4144C>T (p.Leu1382=) c.4093C>T (p.Leu1365=) c.1225C>T (p.Leu409=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.33744110T>A | CA402190541 | ASXL3 | c.4265T>A (p.Leu1422Gln) c.4262T>A (p.Leu1421Gln) c.4142T>A (p.Leu1381Gln) c.4238T>A (p.Leu1413Gln) c.4184T>A (p.Leu1395Gln) c.4145T>A (p.Leu1382Gln) c.4094T>A (p.Leu1365Gln) c.1226T>A (p.Leu409Gln) | |
| 18 | g.33744110T>C | CA402190543 | ASXL3 | c.4265T>C (p.Leu1422Pro) c.4262T>C (p.Leu1421Pro) c.4142T>C (p.Leu1381Pro) c.4238T>C (p.Leu1413Pro) c.4184T>C (p.Leu1395Pro) c.4145T>C (p.Leu1382Pro) c.4094T>C (p.Leu1365Pro) c.1226T>C (p.Leu409Pro) | |
| 18 | g.33744110T>G | CA402190542 | ASXL3 | c.4265T>G (p.Leu1422Arg) c.4262T>G (p.Leu1421Arg) c.4142T>G (p.Leu1381Arg) c.4238T>G (p.Leu1413Arg) c.4184T>G (p.Leu1395Arg) c.4145T>G (p.Leu1382Arg) c.4094T>G (p.Leu1365Arg) c.1226T>G (p.Leu409Arg) | |
| 18 | g.33744111G>A | CA8934217 | ASXL3 | c.4266G>A (p.Leu1422=) c.4263G>A (p.Leu1421=) c.4143G>A (p.Leu1381=) c.4239G>A (p.Leu1413=) c.4185G>A (p.Leu1395=) c.4146G>A (p.Leu1382=) c.4095G>A (p.Leu1365=) c.1227G>A (p.Leu409=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33744111G>C | CA503770369 | ASXL3 | c.4266G>C (p.Leu1422=) c.4263G>C (p.Leu1421=) c.4143G>C (p.Leu1381=) c.4239G>C (p.Leu1413=) c.4185G>C (p.Leu1395=) c.4146G>C (p.Leu1382=) c.4095G>C (p.Leu1365=) c.1227G>C (p.Leu409=) | |
| 18 | g.33744111G= | CA2294857997 | ASXL3 | c.4266G= (p.Leu1422=) c.4263G= (p.Leu1421=) c.4143G= (p.Leu1381=) c.4239G= (p.Leu1413=) c.4185G= (p.Leu1395=) c.4146G= (p.Leu1382=) c.4095G= (p.Leu1365=) c.1227G= (p.Leu409=) | |
| 18 | g.33744111G>T | CA503770366 | ASXL3 | c.4266G>T (p.Leu1422=) c.4263G>T (p.Leu1421=) c.4143G>T (p.Leu1381=) c.4239G>T (p.Leu1413=) c.4185G>T (p.Leu1395=) c.4146G>T (p.Leu1382=) c.4095G>T (p.Leu1365=) c.1227G>T (p.Leu409=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.33744112A>C | CA402190544 | ASXL3 | c.4267A>C (p.Thr1423Pro) c.4264A>C (p.Thr1422Pro) c.4144A>C (p.Thr1382Pro) c.4240A>C (p.Thr1414Pro) c.4186A>C (p.Thr1396Pro) c.4147A>C (p.Thr1383Pro) c.4096A>C (p.Thr1366Pro) c.1228A>C (p.Thr410Pro) | |
| 18 | g.33744112A>G | CA402190545 | ASXL3 | c.4267A>G (p.Thr1423Ala) c.4264A>G (p.Thr1422Ala) c.4144A>G (p.Thr1382Ala) c.4240A>G (p.Thr1414Ala) c.4186A>G (p.Thr1396Ala) c.4147A>G (p.Thr1383Ala) c.4096A>G (p.Thr1366Ala) c.1228A>G (p.Thr410Ala) | |
| 18 | g.33744112A>T | CA402190546 | ASXL3 | c.4267A>T (p.Thr1423Ser) c.4264A>T (p.Thr1422Ser) c.4144A>T (p.Thr1382Ser) c.4240A>T (p.Thr1414Ser) c.4186A>T (p.Thr1396Ser) c.4147A>T (p.Thr1383Ser) c.4096A>T (p.Thr1366Ser) c.1228A>T (p.Thr410Ser) | |
| 18 | g.33744113C>A | CA8934218 | ASXL3 | c.4268C>A (p.Thr1423Lys) c.4265C>A (p.Thr1422Lys) c.4145C>A (p.Thr1382Lys) c.4241C>A (p.Thr1414Lys) c.4187C>A (p.Thr1396Lys) c.4148C>A (p.Thr1383Lys) c.4097C>A (p.Thr1366Lys) c.1229C>A (p.Thr410Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.33744113C= | CA2294857998 | ASXL3 | c.4268C= (p.Thr1423=) c.4265C= (p.Thr1422=) c.4145C= (p.Thr1382=) c.4241C= (p.Thr1414=) c.4187C= (p.Thr1396=) c.4148C= (p.Thr1383=) c.4097C= (p.Thr1366=) c.1229C= (p.Thr410=) | |
| 18 | g.33744113C>G | CA402190547 | ASXL3 | c.4268C>G (p.Thr1423Arg) c.4265C>G (p.Thr1422Arg) c.4145C>G (p.Thr1382Arg) c.4241C>G (p.Thr1414Arg) c.4187C>G (p.Thr1396Arg) c.4148C>G (p.Thr1383Arg) c.4097C>G (p.Thr1366Arg) c.1229C>G (p.Thr410Arg) | |
| 18 | g.33744113C>T | CA8934219 | ASXL3 | c.4268C>T (p.Thr1423Ile) c.4265C>T (p.Thr1422Ile) c.4145C>T (p.Thr1382Ile) c.4241C>T (p.Thr1414Ile) c.4187C>T (p.Thr1396Ile) c.4148C>T (p.Thr1383Ile) c.4097C>T (p.Thr1366Ile) c.1229C>T (p.Thr410Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.33744114A= | CA2294857999 | ASXL3 | c.4269A= (p.Thr1423=) c.4266A= (p.Thr1422=) c.4146A= (p.Thr1382=) c.4242A= (p.Thr1414=) c.4188A= (p.Thr1396=) c.4149A= (p.Thr1383=) c.4098A= (p.Thr1366=) c.1230A= (p.Thr410=) | |
| 18 | g.33744114A>C | CA503770374 | ASXL3 | c.4269A>C (p.Thr1423=) c.4266A>C (p.Thr1422=) c.4146A>C (p.Thr1382=) c.4242A>C (p.Thr1414=) c.4188A>C (p.Thr1396=) c.4149A>C (p.Thr1383=) c.4098A>C (p.Thr1366=) c.1230A>C (p.Thr410=) | |
| 18 | g.33744114A>G | CA8934220 | ASXL3 | c.4269A>G (p.Thr1423=) c.4266A>G (p.Thr1422=) c.4146A>G (p.Thr1382=) c.4242A>G (p.Thr1414=) c.4188A>G (p.Thr1396=) c.4149A>G (p.Thr1383=) c.4098A>G (p.Thr1366=) c.1230A>G (p.Thr410=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.33744114A>T | CA503770376 | ASXL3 | c.4269A>T (p.Thr1423=) c.4266A>T (p.Thr1422=) c.4146A>T (p.Thr1382=) c.4242A>T (p.Thr1414=) c.4188A>T (p.Thr1396=) c.4149A>T (p.Thr1383=) c.4098A>T (p.Thr1366=) c.1230A>T (p.Thr410=) | |
| 18 | g.33744115A>C | CA402190548 | ASXL3 | c.4270A>C (p.Ile1424Leu) c.4267A>C (p.Ile1423Leu) c.4147A>C (p.Ile1383Leu) c.4243A>C (p.Ile1415Leu) c.4189A>C (p.Ile1397Leu) c.4150A>C (p.Ile1384Leu) c.4099A>C (p.Ile1367Leu) c.1231A>C (p.Ile411Leu) | |
| 18 | g.33744115A>G | CA402190549 | ASXL3 | c.4270A>G (p.Ile1424Val) c.4267A>G (p.Ile1423Val) c.4147A>G (p.Ile1383Val) c.4243A>G (p.Ile1415Val) c.4189A>G (p.Ile1397Val) c.4150A>G (p.Ile1384Val) c.4099A>G (p.Ile1367Val) c.1231A>G (p.Ile411Val) | gnomAD v4 |
| 18 | g.33744115A>T | CA402190550 | ASXL3 | c.4270A>T (p.Ile1424Leu) c.4267A>T (p.Ile1423Leu) c.4147A>T (p.Ile1383Leu) c.4243A>T (p.Ile1415Leu) c.4189A>T (p.Ile1397Leu) c.4150A>T (p.Ile1384Leu) c.4099A>T (p.Ile1367Leu) c.1231A>T (p.Ile411Leu) | |
| 18 | g.33744116T>A | CA402190553 | ASXL3 | c.4271T>A (p.Ile1424Lys) c.4268T>A (p.Ile1423Lys) c.4148T>A (p.Ile1383Lys) c.4244T>A (p.Ile1415Lys) c.4190T>A (p.Ile1397Lys) c.4151T>A (p.Ile1384Lys) c.4100T>A (p.Ile1367Lys) c.1232T>A (p.Ile411Lys) | |
| 18 | g.33744116T>C | CA402190552 | ASXL3 | c.4271T>C (p.Ile1424Thr) c.4268T>C (p.Ile1423Thr) c.4148T>C (p.Ile1383Thr) c.4244T>C (p.Ile1415Thr) c.4190T>C (p.Ile1397Thr) c.4151T>C (p.Ile1384Thr) c.4100T>C (p.Ile1367Thr) c.1232T>C (p.Ile411Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.33744116T>G | CA402190551 | ASXL3 | c.4271T>G (p.Ile1424Arg) c.4268T>G (p.Ile1423Arg) c.4148T>G (p.Ile1383Arg) c.4244T>G (p.Ile1415Arg) c.4190T>G (p.Ile1397Arg) c.4151T>G (p.Ile1384Arg) c.4100T>G (p.Ile1367Arg) c.1232T>G (p.Ile411Arg) | |
| 18 | g.33744116T= | CA2294858000 | ASXL3 | c.4271T= (p.Ile1424=) c.4268T= (p.Ile1423=) c.4148T= (p.Ile1383=) c.4244T= (p.Ile1415=) c.4190T= (p.Ile1397=) c.4151T= (p.Ile1384=) c.4100T= (p.Ile1367=) c.1232T= (p.Ile411=) | |
| 18 | g.33744117A>C | CA503770381 | ASXL3 | c.4272A>C (p.Ile1424=) c.4269A>C (p.Ile1423=) c.4149A>C (p.Ile1383=) c.4245A>C (p.Ile1415=) c.4191A>C (p.Ile1397=) c.4152A>C (p.Ile1384=) c.4101A>C (p.Ile1367=) c.1233A>C (p.Ile411=) | |
| 18 | g.33744117A>G | CA402190554 | ASXL3 | c.4272A>G (p.Ile1424Met) c.4269A>G (p.Ile1423Met) c.4149A>G (p.Ile1383Met) c.4245A>G (p.Ile1415Met) c.4191A>G (p.Ile1397Met) c.4152A>G (p.Ile1384Met) c.4101A>G (p.Ile1367Met) c.1233A>G (p.Ile411Met) | |
| 18 | g.33744117A>T | CA503770384 | ASXL3 | c.4272A>T (p.Ile1424=) c.4269A>T (p.Ile1423=) c.4149A>T (p.Ile1383=) c.4245A>T (p.Ile1415=) c.4191A>T (p.Ile1397=) c.4152A>T (p.Ile1384=) c.4101A>T (p.Ile1367=) c.1233A>T (p.Ile411=) | |
| 18 | g.33744118A>C | CA402190555 | ASXL3 | c.4273A>C (p.Asn1425His) c.4270A>C (p.Asn1424His) c.4150A>C (p.Asn1384His) c.4246A>C (p.Asn1416His) c.4192A>C (p.Asn1398His) c.4153A>C (p.Asn1385His) c.4102A>C (p.Asn1368His) c.1234A>C (p.Asn412His) | |
| 18 | g.33744118A>G | CA402190556 | ASXL3 | c.4273A>G (p.Asn1425Asp) c.4270A>G (p.Asn1424Asp) c.4150A>G (p.Asn1384Asp) c.4246A>G (p.Asn1416Asp) c.4192A>G (p.Asn1398Asp) c.4153A>G (p.Asn1385Asp) c.4102A>G (p.Asn1368Asp) c.1234A>G (p.Asn412Asp) | |
| 18 | g.33744118A>T | CA402190557 | ASXL3 | c.4273A>T (p.Asn1425Tyr) c.4270A>T (p.Asn1424Tyr) c.4150A>T (p.Asn1384Tyr) c.4246A>T (p.Asn1416Tyr) c.4192A>T (p.Asn1398Tyr) c.4153A>T (p.Asn1385Tyr) c.4102A>T (p.Asn1368Tyr) c.1234A>T (p.Asn412Tyr) | gnomAD v4 |
| 18 | g.33744119A>C | CA402190558 | ASXL3 | c.4274A>C (p.Asn1425Thr) c.4271A>C (p.Asn1424Thr) c.4151A>C (p.Asn1384Thr) c.4247A>C (p.Asn1416Thr) c.4193A>C (p.Asn1398Thr) c.4154A>C (p.Asn1385Thr) c.4103A>C (p.Asn1368Thr) c.1235A>C (p.Asn412Thr) | |
| 18 | g.33744119A>G | CA402190559 | ASXL3 | c.4274A>G (p.Asn1425Ser) c.4271A>G (p.Asn1424Ser) c.4151A>G (p.Asn1384Ser) c.4247A>G (p.Asn1416Ser) c.4193A>G (p.Asn1398Ser) c.4154A>G (p.Asn1385Ser) c.4103A>G (p.Asn1368Ser) c.1235A>G (p.Asn412Ser) | |
| 18 | g.33744119A>T | CA402190560 | ASXL3 | c.4274A>T (p.Asn1425Ile) c.4271A>T (p.Asn1424Ile) c.4151A>T (p.Asn1384Ile) c.4247A>T (p.Asn1416Ile) c.4193A>T (p.Asn1398Ile) c.4154A>T (p.Asn1385Ile) c.4103A>T (p.Asn1368Ile) c.1235A>T (p.Asn412Ile) | gnomAD v4 |
| 18 | g.33744120C>A | CA8934221 | ASXL3 | c.4275C>A (p.Asn1425Lys) c.4272C>A (p.Asn1424Lys) c.4152C>A (p.Asn1384Lys) c.4248C>A (p.Asn1416Lys) c.4194C>A (p.Asn1398Lys) c.4155C>A (p.Asn1385Lys) c.4104C>A (p.Asn1368Lys) c.1236C>A (p.Asn412Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.33744120C= | CA2294858001 | ASXL3 | c.4275C= (p.Asn1425=) c.4272C= (p.Asn1424=) c.4152C= (p.Asn1384=) c.4248C= (p.Asn1416=) c.4194C= (p.Asn1398=) c.4155C= (p.Asn1385=) c.4104C= (p.Asn1368=) c.1236C= (p.Asn412=) | |
| 18 | g.33744120C>G | CA402190561 | ASXL3 | c.4275C>G (p.Asn1425Lys) c.4272C>G (p.Asn1424Lys) c.4152C>G (p.Asn1384Lys) c.4248C>G (p.Asn1416Lys) c.4194C>G (p.Asn1398Lys) c.4155C>G (p.Asn1385Lys) c.4104C>G (p.Asn1368Lys) c.1236C>G (p.Asn412Lys) | |
| 18 | g.33744120C>T | CA503770394 | ASXL3 | c.4275C>T (p.Asn1425=) c.4272C>T (p.Asn1424=) c.4152C>T (p.Asn1384=) c.4248C>T (p.Asn1416=) c.4194C>T (p.Asn1398=) c.4155C>T (p.Asn1385=) c.4104C>T (p.Asn1368=) c.1236C>T (p.Asn412=) | dbSNP |
| 18 | g.33744121T>A | CA402190562 | ASXL3 | c.4276T>A (p.Ser1426Thr) c.4273T>A (p.Ser1425Thr) c.4153T>A (p.Ser1385Thr) c.4249T>A (p.Ser1417Thr) c.4195T>A (p.Ser1399Thr) c.4156T>A (p.Ser1386Thr) c.4105T>A (p.Ser1369Thr) c.1237T>A (p.Ser413Thr) | |
| 18 | g.33744121T>C | CA8934222 | ASXL3 | c.4276T>C (p.Ser1426Pro) c.4273T>C (p.Ser1425Pro) c.4153T>C (p.Ser1385Pro) c.4249T>C (p.Ser1417Pro) c.4195T>C (p.Ser1399Pro) c.4156T>C (p.Ser1386Pro) c.4105T>C (p.Ser1369Pro) c.1237T>C (p.Ser413Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.33744121T>G | CA402190563 | ASXL3 | c.4276T>G (p.Ser1426Ala) c.4273T>G (p.Ser1425Ala) c.4153T>G (p.Ser1385Ala) c.4249T>G (p.Ser1417Ala) c.4195T>G (p.Ser1399Ala) c.4156T>G (p.Ser1386Ala) c.4105T>G (p.Ser1369Ala) c.1237T>G (p.Ser413Ala) | |
| 18 | g.33744121T= | CA2294858002 | ASXL3 | c.4276T= (p.Ser1426=) c.4273T= (p.Ser1425=) c.4153T= (p.Ser1385=) c.4249T= (p.Ser1417=) c.4195T= (p.Ser1399=) c.4156T= (p.Ser1386=) c.4105T= (p.Ser1369=) c.1237T= (p.Ser413=) | |
| 18 | g.33744122C>A | CA402190565 | ASXL3 | c.4277C>A (p.Ser1426Tyr) c.4274C>A (p.Ser1425Tyr) c.4154C>A (p.Ser1385Tyr) c.4250C>A (p.Ser1417Tyr) c.4196C>A (p.Ser1399Tyr) c.4157C>A (p.Ser1386Tyr) c.4106C>A (p.Ser1369Tyr) c.1238C>A (p.Ser413Tyr) |