Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.33744478G>A | CA297793696 | ASXL3 | c.4633G>A (p.Ala1545Thr) c.4630G>A (p.Ala1544Thr) c.4510G>A (p.Ala1504Thr) c.4606G>A (p.Ala1536Thr) c.4552G>A (p.Ala1518Thr) c.4513G>A (p.Ala1505Thr) c.4462G>A (p.Ala1488Thr) c.1594G>A (p.Ala532Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744478G>C | CA402191338 | ASXL3 | c.4633G>C (p.Ala1545Pro) c.4630G>C (p.Ala1544Pro) c.4510G>C (p.Ala1504Pro) c.4606G>C (p.Ala1536Pro) c.4552G>C (p.Ala1518Pro) c.4513G>C (p.Ala1505Pro) c.4462G>C (p.Ala1488Pro) c.1594G>C (p.Ala532Pro) | |
18 | g.33744478G= | CA2294858155 | ASXL3 | c.4633G= (p.Ala1545=) c.4630G= (p.Ala1544=) c.4510G= (p.Ala1504=) c.4606G= (p.Ala1536=) c.4552G= (p.Ala1518=) c.4513G= (p.Ala1505=) c.4462G= (p.Ala1488=) c.1594G= (p.Ala532=) | |
18 | g.33744478G>T | CA402191339 | ASXL3 | c.4633G>T (p.Ala1545Ser) c.4630G>T (p.Ala1544Ser) c.4510G>T (p.Ala1504Ser) c.4606G>T (p.Ala1536Ser) c.4552G>T (p.Ala1518Ser) c.4513G>T (p.Ala1505Ser) c.4462G>T (p.Ala1488Ser) c.1594G>T (p.Ala532Ser) | dbSNP |
18 | g.33744479C>A | CA402191340 | ASXL3 | c.4634C>A (p.Ala1545Glu) c.4631C>A (p.Ala1544Glu) c.4511C>A (p.Ala1504Glu) c.4607C>A (p.Ala1536Glu) c.4553C>A (p.Ala1518Glu) c.4514C>A (p.Ala1505Glu) c.4463C>A (p.Ala1488Glu) c.1595C>A (p.Ala532Glu) | COSMIC |
18 | g.33744479C>G | CA402191342 | ASXL3 | c.4634C>G (p.Ala1545Gly) c.4631C>G (p.Ala1544Gly) c.4511C>G (p.Ala1504Gly) c.4607C>G (p.Ala1536Gly) c.4553C>G (p.Ala1518Gly) c.4514C>G (p.Ala1505Gly) c.4463C>G (p.Ala1488Gly) c.1595C>G (p.Ala532Gly) | |
18 | g.33744479C>T | CA402191341 | ASXL3 | c.4634C>T (p.Ala1545Val) c.4631C>T (p.Ala1544Val) c.4511C>T (p.Ala1504Val) c.4607C>T (p.Ala1536Val) c.4553C>T (p.Ala1518Val) c.4514C>T (p.Ala1505Val) c.4463C>T (p.Ala1488Val) c.1595C>T (p.Ala532Val) | |
18 | g.33744480A>C | CA503770459 | ASXL3 | c.4635A>C (p.Ala1545=) c.4632A>C (p.Ala1544=) c.4512A>C (p.Ala1504=) c.4608A>C (p.Ala1536=) c.4554A>C (p.Ala1518=) c.4515A>C (p.Ala1505=) c.4464A>C (p.Ala1488=) c.1596A>C (p.Ala532=) | |
18 | g.33744480A>G | CA503770462 | ASXL3 | c.4635A>G (p.Ala1545=) c.4632A>G (p.Ala1544=) c.4512A>G (p.Ala1504=) c.4608A>G (p.Ala1536=) c.4554A>G (p.Ala1518=) c.4515A>G (p.Ala1505=) c.4464A>G (p.Ala1488=) c.1596A>G (p.Ala532=) | |
18 | g.33744480A>T | CA503770463 | ASXL3 | c.4635A>T (p.Ala1545=) c.4632A>T (p.Ala1544=) c.4512A>T (p.Ala1504=) c.4608A>T (p.Ala1536=) c.4554A>T (p.Ala1518=) c.4515A>T (p.Ala1505=) c.4464A>T (p.Ala1488=) c.1596A>T (p.Ala532=) | |
18 | g.33744481G>A | CA402191344 | ASXL3 | c.4636G>A (p.Ala1546Thr) c.4633G>A (p.Ala1545Thr) c.4513G>A (p.Ala1505Thr) c.4609G>A (p.Ala1537Thr) c.4555G>A (p.Ala1519Thr) c.4516G>A (p.Ala1506Thr) c.4465G>A (p.Ala1489Thr) c.1597G>A (p.Ala533Thr) | gnomAD v4 |
18 | g.33744481G>C | CA402191346 | ASXL3 | c.4636G>C (p.Ala1546Pro) c.4633G>C (p.Ala1545Pro) c.4513G>C (p.Ala1505Pro) c.4609G>C (p.Ala1537Pro) c.4555G>C (p.Ala1519Pro) c.4516G>C (p.Ala1506Pro) c.4465G>C (p.Ala1489Pro) c.1597G>C (p.Ala533Pro) | |
18 | g.33744481G= | CA2294858156 | ASXL3 | c.4636G= (p.Ala1546=) c.4633G= (p.Ala1545=) c.4513G= (p.Ala1505=) c.4609G= (p.Ala1537=) c.4555G= (p.Ala1519=) c.4516G= (p.Ala1506=) c.4465G= (p.Ala1489=) c.1597G= (p.Ala533=) | |
18 | g.33744481G>T | CA402191348 | ASXL3 | c.4636G>T (p.Ala1546Ser) c.4633G>T (p.Ala1545Ser) c.4513G>T (p.Ala1505Ser) c.4609G>T (p.Ala1537Ser) c.4555G>T (p.Ala1519Ser) c.4516G>T (p.Ala1506Ser) c.4465G>T (p.Ala1489Ser) c.1597G>T (p.Ala533Ser) | dbSNP |
18 | g.33744482C>A | CA402191352 | ASXL3 | c.4637C>A (p.Ala1546Glu) c.4634C>A (p.Ala1545Glu) c.4514C>A (p.Ala1505Glu) c.4610C>A (p.Ala1537Glu) c.4556C>A (p.Ala1519Glu) c.4517C>A (p.Ala1506Glu) c.4466C>A (p.Ala1489Glu) c.1598C>A (p.Ala533Glu) | |
18 | g.33744482C>G | CA402191354 | ASXL3 | c.4637C>G (p.Ala1546Gly) c.4634C>G (p.Ala1545Gly) c.4514C>G (p.Ala1505Gly) c.4610C>G (p.Ala1537Gly) c.4556C>G (p.Ala1519Gly) c.4517C>G (p.Ala1506Gly) c.4466C>G (p.Ala1489Gly) c.1598C>G (p.Ala533Gly) | |
18 | g.33744482C>T | CA402191356 | ASXL3 | c.4637C>T (p.Ala1546Val) c.4634C>T (p.Ala1545Val) c.4514C>T (p.Ala1505Val) c.4610C>T (p.Ala1537Val) c.4556C>T (p.Ala1519Val) c.4517C>T (p.Ala1506Val) c.4466C>T (p.Ala1489Val) c.1598C>T (p.Ala533Val) | |
18 | g.33744483A>C | CA503770468 | ASXL3 | c.4638A>C (p.Ala1546=) c.4635A>C (p.Ala1545=) c.4515A>C (p.Ala1505=) c.4611A>C (p.Ala1537=) c.4557A>C (p.Ala1519=) c.4518A>C (p.Ala1506=) c.4467A>C (p.Ala1489=) c.1599A>C (p.Ala533=) | |
18 | g.33744483A>G | CA503770470 | ASXL3 | c.4638A>G (p.Ala1546=) c.4635A>G (p.Ala1545=) c.4515A>G (p.Ala1505=) c.4611A>G (p.Ala1537=) c.4557A>G (p.Ala1519=) c.4518A>G (p.Ala1506=) c.4467A>G (p.Ala1489=) c.1599A>G (p.Ala533=) | |
18 | g.33744483A>T | CA503770471 | ASXL3 | c.4638A>T (p.Ala1546=) c.4635A>T (p.Ala1545=) c.4515A>T (p.Ala1505=) c.4611A>T (p.Ala1537=) c.4557A>T (p.Ala1519=) c.4518A>T (p.Ala1506=) c.4467A>T (p.Ala1489=) c.1599A>T (p.Ala533=) | |
18 | g.33744484A>C | CA402191360 | ASXL3 | c.4639A>C (p.Lys1547Gln) c.4636A>C (p.Lys1546Gln) c.4516A>C (p.Lys1506Gln) c.4612A>C (p.Lys1538Gln) c.4558A>C (p.Lys1520Gln) c.4519A>C (p.Lys1507Gln) c.4468A>C (p.Lys1490Gln) c.1600A>C (p.Lys534Gln) | |
18 | g.33744484A>G | CA402191362 | ASXL3 | c.4639A>G (p.Lys1547Glu) c.4636A>G (p.Lys1546Glu) c.4516A>G (p.Lys1506Glu) c.4612A>G (p.Lys1538Glu) c.4558A>G (p.Lys1520Glu) c.4519A>G (p.Lys1507Glu) c.4468A>G (p.Lys1490Glu) c.1600A>G (p.Lys534Glu) | |
18 | g.33744484A>T | CA402191365 | ASXL3 | c.4639A>T (p.Lys1547Ter) c.4636A>T (p.Lys1546Ter) c.4516A>T (p.Lys1506Ter) c.4612A>T (p.Lys1538Ter) c.4558A>T (p.Lys1520Ter) c.4519A>T (p.Lys1507Ter) c.4468A>T (p.Lys1490Ter) c.1600A>T (p.Lys534Ter) | |
18 | g.33744485A>C | CA402191372 | ASXL3 | c.4640A>C (p.Lys1547Thr) c.4637A>C (p.Lys1546Thr) c.4517A>C (p.Lys1506Thr) c.4613A>C (p.Lys1538Thr) c.4559A>C (p.Lys1520Thr) c.4520A>C (p.Lys1507Thr) c.4469A>C (p.Lys1490Thr) c.1601A>C (p.Lys534Thr) | |
18 | g.33744485A>G | CA402191370 | ASXL3 | c.4640A>G (p.Lys1547Arg) c.4637A>G (p.Lys1546Arg) c.4517A>G (p.Lys1506Arg) c.4613A>G (p.Lys1538Arg) c.4559A>G (p.Lys1520Arg) c.4520A>G (p.Lys1507Arg) c.4469A>G (p.Lys1490Arg) c.1601A>G (p.Lys534Arg) | |
18 | g.33744485A>T | CA402191369 | ASXL3 | c.4640A>T (p.Lys1547Ile) c.4637A>T (p.Lys1546Ile) c.4517A>T (p.Lys1506Ile) c.4613A>T (p.Lys1538Ile) c.4559A>T (p.Lys1520Ile) c.4520A>T (p.Lys1507Ile) c.4469A>T (p.Lys1490Ile) c.1601A>T (p.Lys534Ile) | |
18 | g.33744486A>C | CA402191374 | ASXL3 | c.4641A>C (p.Lys1547Asn) c.4638A>C (p.Lys1546Asn) c.4518A>C (p.Lys1506Asn) c.4614A>C (p.Lys1538Asn) c.4560A>C (p.Lys1520Asn) c.4521A>C (p.Lys1507Asn) c.4470A>C (p.Lys1490Asn) c.1602A>C (p.Lys534Asn) | |
18 | g.33744486A>G | CA503770484 | ASXL3 | c.4641A>G (p.Lys1547=) c.4638A>G (p.Lys1546=) c.4518A>G (p.Lys1506=) c.4614A>G (p.Lys1538=) c.4560A>G (p.Lys1520=) c.4521A>G (p.Lys1507=) c.4470A>G (p.Lys1490=) c.1602A>G (p.Lys534=) | |
18 | g.33744486A>T | CA402191377 | ASXL3 | c.4641A>T (p.Lys1547Asn) c.4638A>T (p.Lys1546Asn) c.4518A>T (p.Lys1506Asn) c.4614A>T (p.Lys1538Asn) c.4560A>T (p.Lys1520Asn) c.4521A>T (p.Lys1507Asn) c.4470A>T (p.Lys1490Asn) c.1602A>T (p.Lys534Asn) | |
18 | g.33744487C>A | CA402191380 | ASXL3 | c.4642C>A (p.Gln1548Lys) c.4639C>A (p.Gln1547Lys) c.4519C>A (p.Gln1507Lys) c.4615C>A (p.Gln1539Lys) c.4561C>A (p.Gln1521Lys) c.4522C>A (p.Gln1508Lys) c.4471C>A (p.Gln1491Lys) c.1603C>A (p.Gln535Lys) | dbSNP gnomAD v2 |
18 | g.33744487C= | CA2294858157 | ASXL3 | c.4642C= (p.Gln1548=) c.4639C= (p.Gln1547=) c.4519C= (p.Gln1507=) c.4615C= (p.Gln1539=) c.4561C= (p.Gln1521=) c.4522C= (p.Gln1508=) c.4471C= (p.Gln1491=) c.1603C= (p.Gln535=) | |
18 | g.33744487C>G | CA402191382 | ASXL3 | c.4642C>G (p.Gln1548Glu) c.4639C>G (p.Gln1547Glu) c.4519C>G (p.Gln1507Glu) c.4615C>G (p.Gln1539Glu) c.4561C>G (p.Gln1521Glu) c.4522C>G (p.Gln1508Glu) c.4471C>G (p.Gln1491Glu) c.1603C>G (p.Gln535Glu) | |
18 | g.33744487C>T | CA402191385 | ASXL3 | c.4642C>T (p.Gln1548Ter) c.4639C>T (p.Gln1547Ter) c.4519C>T (p.Gln1507Ter) c.4615C>T (p.Gln1539Ter) c.4561C>T (p.Gln1521Ter) c.4522C>T (p.Gln1508Ter) c.4471C>T (p.Gln1491Ter) c.1603C>T (p.Gln535Ter) | |
18 | g.33744488A= | CA2294858158 | ASXL3 | c.4643A= (p.Gln1548=) c.4640A= (p.Gln1547=) c.4520A= (p.Gln1507=) c.4616A= (p.Gln1539=) c.4562A= (p.Gln1521=) c.4523A= (p.Gln1508=) c.4472A= (p.Gln1491=) c.1604A= (p.Gln535=) | |
18 | g.33744488A>C | CA297793699 | ASXL3 | c.4643A>C (p.Gln1548Pro) c.4640A>C (p.Gln1547Pro) c.4520A>C (p.Gln1507Pro) c.4616A>C (p.Gln1539Pro) c.4562A>C (p.Gln1521Pro) c.4523A>C (p.Gln1508Pro) c.4472A>C (p.Gln1491Pro) c.1604A>C (p.Gln535Pro) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33744488A>G | CA402191390 | ASXL3 | c.4643A>G (p.Gln1548Arg) c.4640A>G (p.Gln1547Arg) c.4520A>G (p.Gln1507Arg) c.4616A>G (p.Gln1539Arg) c.4562A>G (p.Gln1521Arg) c.4523A>G (p.Gln1508Arg) c.4472A>G (p.Gln1491Arg) c.1604A>G (p.Gln535Arg) | |
18 | g.33744488A>T | CA402191392 | ASXL3 | c.4643A>T (p.Gln1548Leu) c.4640A>T (p.Gln1547Leu) c.4520A>T (p.Gln1507Leu) c.4616A>T (p.Gln1539Leu) c.4562A>T (p.Gln1521Leu) c.4523A>T (p.Gln1508Leu) c.4472A>T (p.Gln1491Leu) c.1604A>T (p.Gln535Leu) | |
18 | g.33744489A= | CA2294858159 | ASXL3 | c.4644A= (p.Gln1548=) c.4641A= (p.Gln1547=) c.4521A= (p.Gln1507=) c.4617A= (p.Gln1539=) c.4563A= (p.Gln1521=) c.4524A= (p.Gln1508=) c.4473A= (p.Gln1491=) c.1605A= (p.Gln535=) | |
18 | g.33744489A>C | CA402191394 | ASXL3 | c.4644A>C (p.Gln1548His) c.4641A>C (p.Gln1547His) c.4521A>C (p.Gln1507His) c.4617A>C (p.Gln1539His) c.4563A>C (p.Gln1521His) c.4524A>C (p.Gln1508His) c.4473A>C (p.Gln1491His) c.1605A>C (p.Gln535His) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33744489A>G | CA503770492 | ASXL3 | c.4644A>G (p.Gln1548=) c.4641A>G (p.Gln1547=) c.4521A>G (p.Gln1507=) c.4617A>G (p.Gln1539=) c.4563A>G (p.Gln1521=) c.4524A>G (p.Gln1508=) c.4473A>G (p.Gln1491=) c.1605A>G (p.Gln535=) | ClinVar dbSNP gnomAD v4 |
18 | g.33744489A>T | CA402191396 | ASXL3 | c.4644A>T (p.Gln1548His) c.4641A>T (p.Gln1547His) c.4521A>T (p.Gln1507His) c.4617A>T (p.Gln1539His) c.4563A>T (p.Gln1521His) c.4524A>T (p.Gln1508His) c.4473A>T (p.Gln1491His) c.1605A>T (p.Gln535His) | |
18 | g.33744490G>A | CA297793702 | ASXL3 | c.4645G>A (p.Asp1549Asn) c.4642G>A (p.Asp1548Asn) c.4522G>A (p.Asp1508Asn) c.4618G>A (p.Asp1540Asn) c.4564G>A (p.Asp1522Asn) c.4525G>A (p.Asp1509Asn) c.4474G>A (p.Asp1492Asn) c.1606G>A (p.Asp536Asn) | dbSNP |
18 | g.33744490G>C | CA8934299 | ASXL3 | c.4645G>C (p.Asp1549His) c.4642G>C (p.Asp1548His) c.4522G>C (p.Asp1508His) c.4618G>C (p.Asp1540His) c.4564G>C (p.Asp1522His) c.4525G>C (p.Asp1509His) c.4474G>C (p.Asp1492His) c.1606G>C (p.Asp536His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744490G= | CA2294858160 | ASXL3 | c.4645G= (p.Asp1549=) c.4642G= (p.Asp1548=) c.4522G= (p.Asp1508=) c.4618G= (p.Asp1540=) c.4564G= (p.Asp1522=) c.4525G= (p.Asp1509=) c.4474G= (p.Asp1492=) c.1606G= (p.Asp536=) | |
18 | g.33744490G>T | CA402191404 | ASXL3 | c.4645G>T (p.Asp1549Tyr) c.4642G>T (p.Asp1548Tyr) c.4522G>T (p.Asp1508Tyr) c.4618G>T (p.Asp1540Tyr) c.4564G>T (p.Asp1522Tyr) c.4525G>T (p.Asp1509Tyr) c.4474G>T (p.Asp1492Tyr) c.1606G>T (p.Asp536Tyr) | |
18 | g.33744491A= | CA2294858161 | ASXL3 | c.4646A= (p.Asp1549=) c.4643A= (p.Asp1548=) c.4523A= (p.Asp1508=) c.4619A= (p.Asp1540=) c.4565A= (p.Asp1522=) c.4526A= (p.Asp1509=) c.4475A= (p.Asp1492=) c.1607A= (p.Asp536=) | |
18 | g.33744491A>C | CA402191407 | ASXL3 | c.4646A>C (p.Asp1549Ala) c.4643A>C (p.Asp1548Ala) c.4523A>C (p.Asp1508Ala) c.4619A>C (p.Asp1540Ala) c.4565A>C (p.Asp1522Ala) c.4526A>C (p.Asp1509Ala) c.4475A>C (p.Asp1492Ala) c.1607A>C (p.Asp536Ala) | |
18 | g.33744491A>G | CA8934300 | ASXL3 | c.4646A>G (p.Asp1549Gly) c.4643A>G (p.Asp1548Gly) c.4523A>G (p.Asp1508Gly) c.4619A>G (p.Asp1540Gly) c.4565A>G (p.Asp1522Gly) c.4526A>G (p.Asp1509Gly) c.4475A>G (p.Asp1492Gly) c.1607A>G (p.Asp536Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744491A>T | CA402191409 | ASXL3 | c.4646A>T (p.Asp1549Val) c.4643A>T (p.Asp1548Val) c.4523A>T (p.Asp1508Val) c.4619A>T (p.Asp1540Val) c.4565A>T (p.Asp1522Val) c.4526A>T (p.Asp1509Val) c.4475A>T (p.Asp1492Val) c.1607A>T (p.Asp536Val) | |
18 | g.33744492C>A | CA402191414 | ASXL3 | c.4647C>A (p.Asp1549Glu) c.4644C>A (p.Asp1548Glu) c.4524C>A (p.Asp1508Glu) c.4620C>A (p.Asp1540Glu) c.4566C>A (p.Asp1522Glu) c.4527C>A (p.Asp1509Glu) c.4476C>A (p.Asp1492Glu) c.1608C>A (p.Asp536Glu) | |
18 | g.33744492C>G | CA402191416 | ASXL3 | c.4647C>G (p.Asp1549Glu) c.4644C>G (p.Asp1548Glu) c.4524C>G (p.Asp1508Glu) c.4620C>G (p.Asp1540Glu) c.4566C>G (p.Asp1522Glu) c.4527C>G (p.Asp1509Glu) c.4476C>G (p.Asp1492Glu) c.1608C>G (p.Asp536Glu) | |
18 | g.33744492C>T | CA503770499 | ASXL3 | c.4647C>T (p.Asp1549=) c.4644C>T (p.Asp1548=) c.4524C>T (p.Asp1508=) c.4620C>T (p.Asp1540=) c.4566C>T (p.Asp1522=) c.4527C>T (p.Asp1509=) c.4476C>T (p.Asp1492=) c.1608C>T (p.Asp536=) | |
18 | g.33744493A= | CA2294858162 | ASXL3 | c.4648A= (p.Ser1550=) c.4645A= (p.Ser1549=) c.4525A= (p.Ser1509=) c.4621A= (p.Ser1541=) c.4567A= (p.Ser1523=) c.4528A= (p.Ser1510=) c.4477A= (p.Ser1493=) c.1609A= (p.Ser537=) | |
18 | g.33744493A>C | CA402191420 | ASXL3 | c.4648A>C (p.Ser1550Arg) c.4645A>C (p.Ser1549Arg) c.4525A>C (p.Ser1509Arg) c.4621A>C (p.Ser1541Arg) c.4567A>C (p.Ser1523Arg) c.4528A>C (p.Ser1510Arg) c.4477A>C (p.Ser1493Arg) c.1609A>C (p.Ser537Arg) | |
18 | g.33744493A>G | CA297793709 | ASXL3 | c.4648A>G (p.Ser1550Gly) c.4645A>G (p.Ser1549Gly) c.4525A>G (p.Ser1509Gly) c.4621A>G (p.Ser1541Gly) c.4567A>G (p.Ser1523Gly) c.4528A>G (p.Ser1510Gly) c.4477A>G (p.Ser1493Gly) c.1609A>G (p.Ser537Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744493A>T | CA297793713 | ASXL3 | c.4648A>T (p.Ser1550Cys) c.4645A>T (p.Ser1549Cys) c.4525A>T (p.Ser1509Cys) c.4621A>T (p.Ser1541Cys) c.4567A>T (p.Ser1523Cys) c.4528A>T (p.Ser1510Cys) c.4477A>T (p.Ser1493Cys) c.1609A>T (p.Ser537Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744494G>A | CA402191426 | ASXL3 | c.4649G>A (p.Ser1550Asn) c.4646G>A (p.Ser1549Asn) c.4526G>A (p.Ser1509Asn) c.4622G>A (p.Ser1541Asn) c.4568G>A (p.Ser1523Asn) c.4529G>A (p.Ser1510Asn) c.4478G>A (p.Ser1493Asn) c.1610G>A (p.Ser537Asn) | |
18 | g.33744494G>C | CA402191428 | ASXL3 | c.4649G>C (p.Ser1550Thr) c.4646G>C (p.Ser1549Thr) c.4526G>C (p.Ser1509Thr) c.4622G>C (p.Ser1541Thr) c.4568G>C (p.Ser1523Thr) c.4529G>C (p.Ser1510Thr) c.4478G>C (p.Ser1493Thr) c.1610G>C (p.Ser537Thr) | |
18 | g.33744494G>T | CA402191430 | ASXL3 | c.4649G>T (p.Ser1550Ile) c.4646G>T (p.Ser1549Ile) c.4526G>T (p.Ser1509Ile) c.4622G>T (p.Ser1541Ile) c.4568G>T (p.Ser1523Ile) c.4529G>T (p.Ser1510Ile) c.4478G>T (p.Ser1493Ile) c.1610G>T (p.Ser537Ile) | |
18 | g.33744495T>A | CA402191432 | ASXL3 | c.4650T>A (p.Ser1550Arg) c.4647T>A (p.Ser1549Arg) c.4527T>A (p.Ser1509Arg) c.4623T>A (p.Ser1541Arg) c.4569T>A (p.Ser1523Arg) c.4530T>A (p.Ser1510Arg) c.4479T>A (p.Ser1493Arg) c.1611T>A (p.Ser537Arg) | |
18 | g.33744495T>C | CA8934301 | ASXL3 | c.4650T>C (p.Ser1550=) c.4647T>C (p.Ser1549=) c.4527T>C (p.Ser1509=) c.4623T>C (p.Ser1541=) c.4569T>C (p.Ser1523=) c.4530T>C (p.Ser1510=) c.4479T>C (p.Ser1493=) c.1611T>C (p.Ser537=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744495T>G | CA402191436 | ASXL3 | c.4650T>G (p.Ser1550Arg) c.4647T>G (p.Ser1549Arg) c.4527T>G (p.Ser1509Arg) c.4623T>G (p.Ser1541Arg) c.4569T>G (p.Ser1523Arg) c.4530T>G (p.Ser1510Arg) c.4479T>G (p.Ser1493Arg) c.1611T>G (p.Ser537Arg) | |
18 | g.33744495T= | CA2294858163 | ASXL3 | c.4650T= (p.Ser1550=) c.4647T= (p.Ser1549=) c.4527T= (p.Ser1509=) c.4623T= (p.Ser1541=) c.4569T= (p.Ser1523=) c.4530T= (p.Ser1510=) c.4479T= (p.Ser1493=) c.1611T= (p.Ser537=) | |
18 | g.33744496A>C | CA402191443 | ASXL3 | c.4651A>C (p.Lys1551Gln) c.4648A>C (p.Lys1550Gln) c.4528A>C (p.Lys1510Gln) c.4624A>C (p.Lys1542Gln) c.4570A>C (p.Lys1524Gln) c.4531A>C (p.Lys1511Gln) c.4480A>C (p.Lys1494Gln) c.1612A>C (p.Lys538Gln) | |
18 | g.33744496A>G | CA402191440 | ASXL3 | c.4651A>G (p.Lys1551Glu) c.4648A>G (p.Lys1550Glu) c.4528A>G (p.Lys1510Glu) c.4624A>G (p.Lys1542Glu) c.4570A>G (p.Lys1524Glu) c.4531A>G (p.Lys1511Glu) c.4480A>G (p.Lys1494Glu) c.1612A>G (p.Lys538Glu) | |
18 | g.33744496A>T | CA402191438 | ASXL3 | c.4651A>T (p.Lys1551Ter) c.4648A>T (p.Lys1550Ter) c.4528A>T (p.Lys1510Ter) c.4624A>T (p.Lys1542Ter) c.4570A>T (p.Lys1524Ter) c.4531A>T (p.Lys1511Ter) c.4480A>T (p.Lys1494Ter) c.1612A>T (p.Lys538Ter) | |
18 | g.33744497A>C | CA402191448 | ASXL3 | c.4652A>C (p.Lys1551Thr) c.4649A>C (p.Lys1550Thr) c.4529A>C (p.Lys1510Thr) c.4625A>C (p.Lys1542Thr) c.4571A>C (p.Lys1524Thr) c.4532A>C (p.Lys1511Thr) c.4481A>C (p.Lys1494Thr) c.1613A>C (p.Lys538Thr) | |
18 | g.33744497A>G | CA402191446 | ASXL3 | c.4652A>G (p.Lys1551Arg) c.4649A>G (p.Lys1550Arg) c.4529A>G (p.Lys1510Arg) c.4625A>G (p.Lys1542Arg) c.4571A>G (p.Lys1524Arg) c.4532A>G (p.Lys1511Arg) c.4481A>G (p.Lys1494Arg) c.1613A>G (p.Lys538Arg) | |
18 | g.33744497A>T | CA402191451 | ASXL3 | c.4652A>T (p.Lys1551Ile) c.4649A>T (p.Lys1550Ile) c.4529A>T (p.Lys1510Ile) c.4625A>T (p.Lys1542Ile) c.4571A>T (p.Lys1524Ile) c.4532A>T (p.Lys1511Ile) c.4481A>T (p.Lys1494Ile) c.1613A>T (p.Lys538Ile) | |
18 | g.33744498A>C | CA402191453 | ASXL3 | c.4653A>C (p.Lys1551Asn) c.4650A>C (p.Lys1550Asn) c.4530A>C (p.Lys1510Asn) c.4626A>C (p.Lys1542Asn) c.4572A>C (p.Lys1524Asn) c.4533A>C (p.Lys1511Asn) c.4482A>C (p.Lys1494Asn) c.1614A>C (p.Lys538Asn) | |
18 | g.33744498A>G | CA503770516 | ASXL3 | c.4653A>G (p.Lys1551=) c.4650A>G (p.Lys1550=) c.4530A>G (p.Lys1510=) c.4626A>G (p.Lys1542=) c.4572A>G (p.Lys1524=) c.4533A>G (p.Lys1511=) c.4482A>G (p.Lys1494=) c.1614A>G (p.Lys538=) | |
18 | g.33744498A>T | CA402191455 | ASXL3 | c.4653A>T (p.Lys1551Asn) c.4650A>T (p.Lys1550Asn) c.4530A>T (p.Lys1510Asn) c.4626A>T (p.Lys1542Asn) c.4572A>T (p.Lys1524Asn) c.4533A>T (p.Lys1511Asn) c.4482A>T (p.Lys1494Asn) c.1614A>T (p.Lys538Asn) | |
18 | g.33744499A>C | CA402191459 | ASXL3 | c.4654A>C (p.Thr1552Pro) c.4651A>C (p.Thr1551Pro) c.4531A>C (p.Thr1511Pro) c.4627A>C (p.Thr1543Pro) c.4573A>C (p.Thr1525Pro) c.4534A>C (p.Thr1512Pro) c.4483A>C (p.Thr1495Pro) c.1615A>C (p.Thr539Pro) | |
18 | g.33744499A>G | CA402191460 | ASXL3 | c.4654A>G (p.Thr1552Ala) c.4651A>G (p.Thr1551Ala) c.4531A>G (p.Thr1511Ala) c.4627A>G (p.Thr1543Ala) c.4573A>G (p.Thr1525Ala) c.4534A>G (p.Thr1512Ala) c.4483A>G (p.Thr1495Ala) c.1615A>G (p.Thr539Ala) | |
18 | g.33744499A>T | CA402191462 | ASXL3 | c.4654A>T (p.Thr1552Ser) c.4651A>T (p.Thr1551Ser) c.4531A>T (p.Thr1511Ser) c.4627A>T (p.Thr1543Ser) c.4573A>T (p.Thr1525Ser) c.4534A>T (p.Thr1512Ser) c.4483A>T (p.Thr1495Ser) c.1615A>T (p.Thr539Ser) | |
18 | g.33744500C>A | CA402191465 | ASXL3 | c.4655C>A (p.Thr1552Lys) c.4652C>A (p.Thr1551Lys) c.4532C>A (p.Thr1511Lys) c.4628C>A (p.Thr1543Lys) c.4574C>A (p.Thr1525Lys) c.4535C>A (p.Thr1512Lys) c.4484C>A (p.Thr1495Lys) c.1616C>A (p.Thr539Lys) | |
18 | g.33744500C>G | CA402191467 | ASXL3 | c.4655C>G (p.Thr1552Arg) c.4652C>G (p.Thr1551Arg) c.4532C>G (p.Thr1511Arg) c.4628C>G (p.Thr1543Arg) c.4574C>G (p.Thr1525Arg) c.4535C>G (p.Thr1512Arg) c.4484C>G (p.Thr1495Arg) c.1616C>G (p.Thr539Arg) | |
18 | g.33744500C>T | CA402191469 | ASXL3 | c.4655C>T (p.Thr1552Ile) c.4652C>T (p.Thr1551Ile) c.4532C>T (p.Thr1511Ile) c.4628C>T (p.Thr1543Ile) c.4574C>T (p.Thr1525Ile) c.4535C>T (p.Thr1512Ile) c.4484C>T (p.Thr1495Ile) c.1616C>T (p.Thr539Ile) | |
18 | g.33744501A= | CA2294858164 | ASXL3 | c.4656A= (p.Thr1552=) c.4653A= (p.Thr1551=) c.4533A= (p.Thr1511=) c.4629A= (p.Thr1543=) c.4575A= (p.Thr1525=) c.4536A= (p.Thr1512=) c.4485A= (p.Thr1495=) c.1617A= (p.Thr539=) | |
18 | g.33744501A>C | CA503770530 | ASXL3 | c.4656A>C (p.Thr1552=) c.4653A>C (p.Thr1551=) c.4533A>C (p.Thr1511=) c.4629A>C (p.Thr1543=) c.4575A>C (p.Thr1525=) c.4536A>C (p.Thr1512=) c.4485A>C (p.Thr1495=) c.1617A>C (p.Thr539=) | |
18 | g.33744501A>G | CA297793720 | ASXL3 | c.4656A>G (p.Thr1552=) c.4653A>G (p.Thr1551=) c.4533A>G (p.Thr1511=) c.4629A>G (p.Thr1543=) c.4575A>G (p.Thr1525=) c.4536A>G (p.Thr1512=) c.4485A>G (p.Thr1495=) c.1617A>G (p.Thr539=) | dbSNP gnomAD v4 |
18 | g.33744501A>T | CA503770531 | ASXL3 | c.4656A>T (p.Thr1552=) c.4653A>T (p.Thr1551=) c.4533A>T (p.Thr1511=) c.4629A>T (p.Thr1543=) c.4575A>T (p.Thr1525=) c.4536A>T (p.Thr1512=) c.4485A>T (p.Thr1495=) c.1617A>T (p.Thr539=) | |
18 | g.33744502T>A | CA402191474 | ASXL3 | c.4657T>A (p.Leu1553Met) c.4654T>A (p.Leu1552Met) c.4534T>A (p.Leu1512Met) c.4630T>A (p.Leu1544Met) c.4576T>A (p.Leu1526Met) c.4537T>A (p.Leu1513Met) c.4486T>A (p.Leu1496Met) c.1618T>A (p.Leu540Met) | |
18 | g.33744502T>C | CA503770544 | ASXL3 | c.4657T>C (p.Leu1553=) c.4654T>C (p.Leu1552=) c.4534T>C (p.Leu1512=) c.4630T>C (p.Leu1544=) c.4576T>C (p.Leu1526=) c.4537T>C (p.Leu1513=) c.4486T>C (p.Leu1496=) c.1618T>C (p.Leu540=) | dbSNP gnomAD v2 COSMIC |
18 | g.33744502T>G | CA402191477 | ASXL3 | c.4657T>G (p.Leu1553Val) c.4654T>G (p.Leu1552Val) c.4534T>G (p.Leu1512Val) c.4630T>G (p.Leu1544Val) c.4576T>G (p.Leu1526Val) c.4537T>G (p.Leu1513Val) c.4486T>G (p.Leu1496Val) c.1618T>G (p.Leu540Val) | |
18 | g.33744502T= | CA2294858165 | ASXL3 | c.4657T= (p.Leu1553=) c.4654T= (p.Leu1552=) c.4534T= (p.Leu1512=) c.4630T= (p.Leu1544=) c.4576T= (p.Leu1526=) c.4537T= (p.Leu1513=) c.4486T= (p.Leu1496=) c.1618T= (p.Leu540=) | |
18 | g.33744503T>A | CA402191486 | ASXL3 | c.4658T>A (p.Leu1553Ter) c.4655T>A (p.Leu1552Ter) c.4535T>A (p.Leu1512Ter) c.4631T>A (p.Leu1544Ter) c.4577T>A (p.Leu1526Ter) c.4538T>A (p.Leu1513Ter) c.4487T>A (p.Leu1496Ter) c.1619T>A (p.Leu540Ter) | |
18 | g.33744503T>C | CA8934302 | ASXL3 | c.4658T>C (p.Leu1553Ser) c.4655T>C (p.Leu1552Ser) c.4535T>C (p.Leu1512Ser) c.4631T>C (p.Leu1544Ser) c.4577T>C (p.Leu1526Ser) c.4538T>C (p.Leu1513Ser) c.4487T>C (p.Leu1496Ser) c.1619T>C (p.Leu540Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744503T>G | CA402191481 | ASXL3 | c.4658T>G (p.Leu1553Trp) c.4655T>G (p.Leu1552Trp) c.4535T>G (p.Leu1512Trp) c.4631T>G (p.Leu1544Trp) c.4577T>G (p.Leu1526Trp) c.4538T>G (p.Leu1513Trp) c.4487T>G (p.Leu1496Trp) c.1619T>G (p.Leu540Trp) | |
18 | g.33744503T= | CA2294858166 | ASXL3 | c.4658T= (p.Leu1553=) c.4655T= (p.Leu1552=) c.4535T= (p.Leu1512=) c.4631T= (p.Leu1544=) c.4577T= (p.Leu1526=) c.4538T= (p.Leu1513=) c.4487T= (p.Leu1496=) c.1619T= (p.Leu540=) | |
18 | g.33744504G>A | CA503770549 | ASXL3 | c.4659G>A (p.Leu1553=) c.4656G>A (p.Leu1552=) c.4536G>A (p.Leu1512=) c.4632G>A (p.Leu1544=) c.4578G>A (p.Leu1526=) c.4539G>A (p.Leu1513=) c.4488G>A (p.Leu1496=) c.1620G>A (p.Leu540=) | dbSNP gnomAD v4 |
18 | g.33744504G>C | CA402191488 | ASXL3 | c.4659G>C (p.Leu1553Phe) c.4656G>C (p.Leu1552Phe) c.4536G>C (p.Leu1512Phe) c.4632G>C (p.Leu1544Phe) c.4578G>C (p.Leu1526Phe) c.4539G>C (p.Leu1513Phe) c.4488G>C (p.Leu1496Phe) c.1620G>C (p.Leu540Phe) | |
18 | g.33744504G= | CA2294858167 | ASXL3 | c.4659G= (p.Leu1553=) c.4656G= (p.Leu1552=) c.4536G= (p.Leu1512=) c.4632G= (p.Leu1544=) c.4578G= (p.Leu1526=) c.4539G= (p.Leu1513=) c.4488G= (p.Leu1496=) c.1620G= (p.Leu540=) | |
18 | g.33744504G>T | CA402191490 | ASXL3 | c.4659G>T (p.Leu1553Phe) c.4656G>T (p.Leu1552Phe) c.4536G>T (p.Leu1512Phe) c.4632G>T (p.Leu1544Phe) c.4578G>T (p.Leu1526Phe) c.4539G>T (p.Leu1513Phe) c.4488G>T (p.Leu1496Phe) c.1620G>T (p.Leu540Phe) | |
18 | g.33744505C>A | CA8934304 | ASXL3 | c.4660C>A (p.Pro1554Thr) c.4657C>A (p.Pro1553Thr) c.4537C>A (p.Pro1513Thr) c.4633C>A (p.Pro1545Thr) c.4579C>A (p.Pro1527Thr) c.4540C>A (p.Pro1514Thr) c.4489C>A (p.Pro1497Thr) c.1621C>A (p.Pro541Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744505C= | CA2294858168 | ASXL3 | c.4660C= (p.Pro1554=) c.4657C= (p.Pro1553=) c.4537C= (p.Pro1513=) c.4633C= (p.Pro1545=) c.4579C= (p.Pro1527=) c.4540C= (p.Pro1514=) c.4489C= (p.Pro1497=) c.1621C= (p.Pro541=) | |
18 | g.33744505C>G | CA402191496 | ASXL3 | c.4660C>G (p.Pro1554Ala) c.4657C>G (p.Pro1553Ala) c.4537C>G (p.Pro1513Ala) c.4633C>G (p.Pro1545Ala) c.4579C>G (p.Pro1527Ala) c.4540C>G (p.Pro1514Ala) c.4489C>G (p.Pro1497Ala) c.1621C>G (p.Pro541Ala) | |
18 | g.33744505C>T | CA8934303 | ASXL3 | c.4660C>T (p.Pro1554Ser) c.4657C>T (p.Pro1553Ser) c.4537C>T (p.Pro1513Ser) c.4633C>T (p.Pro1545Ser) c.4579C>T (p.Pro1527Ser) c.4540C>T (p.Pro1514Ser) c.4489C>T (p.Pro1497Ser) c.1621C>T (p.Pro541Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744506C>A | CA402191500 | ASXL3 | c.4661C>A (p.Pro1554Gln) c.4658C>A (p.Pro1553Gln) c.4538C>A (p.Pro1513Gln) c.4634C>A (p.Pro1545Gln) c.4580C>A (p.Pro1527Gln) c.4541C>A (p.Pro1514Gln) c.4490C>A (p.Pro1497Gln) c.1622C>A (p.Pro541Gln) | |
18 | g.33744506C= | CA2294858169 | ASXL3 | c.4661C= (p.Pro1554=) c.4658C= (p.Pro1553=) c.4538C= (p.Pro1513=) c.4634C= (p.Pro1545=) c.4580C= (p.Pro1527=) c.4541C= (p.Pro1514=) c.4490C= (p.Pro1497=) c.1622C= (p.Pro541=) | |
18 | g.33744506C>G | CA402191503 | ASXL3 | c.4661C>G (p.Pro1554Arg) c.4658C>G (p.Pro1553Arg) c.4538C>G (p.Pro1513Arg) c.4634C>G (p.Pro1545Arg) c.4580C>G (p.Pro1527Arg) c.4541C>G (p.Pro1514Arg) c.4490C>G (p.Pro1497Arg) c.1622C>G (p.Pro541Arg) | |
18 | g.33744506C>T | CA8934305 | ASXL3 | c.4661C>T (p.Pro1554Leu) c.4658C>T (p.Pro1553Leu) c.4538C>T (p.Pro1513Leu) c.4634C>T (p.Pro1545Leu) c.4580C>T (p.Pro1527Leu) c.4541C>T (p.Pro1514Leu) c.4490C>T (p.Pro1497Leu) c.1622C>T (p.Pro541Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744507G>A | CA8934306 | ASXL3 | c.4662G>A (p.Pro1554=) c.4659G>A (p.Pro1553=) c.4539G>A (p.Pro1513=) c.4635G>A (p.Pro1545=) c.4581G>A (p.Pro1527=) c.4542G>A (p.Pro1514=) c.4491G>A (p.Pro1497=) c.1623G>A (p.Pro541=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744507G>C | CA503770560 | ASXL3 | c.4662G>C (p.Pro1554=) c.4659G>C (p.Pro1553=) c.4539G>C (p.Pro1513=) c.4635G>C (p.Pro1545=) c.4581G>C (p.Pro1527=) c.4542G>C (p.Pro1514=) c.4491G>C (p.Pro1497=) c.1623G>C (p.Pro541=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33744507G= | CA2294858170 | ASXL3 | c.4662G= (p.Pro1554=) c.4659G= (p.Pro1553=) c.4539G= (p.Pro1513=) c.4635G= (p.Pro1545=) c.4581G= (p.Pro1527=) c.4542G= (p.Pro1514=) c.4491G= (p.Pro1497=) c.1623G= (p.Pro541=) | |
18 | g.33744507G>T | CA503770562 | ASXL3 | c.4662G>T (p.Pro1554=) c.4659G>T (p.Pro1553=) c.4539G>T (p.Pro1513=) c.4635G>T (p.Pro1545=) c.4581G>T (p.Pro1527=) c.4542G>T (p.Pro1514=) c.4491G>T (p.Pro1497=) c.1623G>T (p.Pro541=) | |
18 | g.33744508G>A | CA8934307 | ASXL3 | c.4663G>A (p.Ala1555Thr) c.4660G>A (p.Ala1554Thr) c.4540G>A (p.Ala1514Thr) c.4636G>A (p.Ala1546Thr) c.4582G>A (p.Ala1528Thr) c.4543G>A (p.Ala1515Thr) c.4492G>A (p.Ala1498Thr) c.1624G>A (p.Ala542Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744508G>C | CA402191512 | ASXL3 | c.4663G>C (p.Ala1555Pro) c.4660G>C (p.Ala1554Pro) c.4540G>C (p.Ala1514Pro) c.4636G>C (p.Ala1546Pro) c.4582G>C (p.Ala1528Pro) c.4543G>C (p.Ala1515Pro) c.4492G>C (p.Ala1498Pro) c.1624G>C (p.Ala542Pro) | |
18 | g.33744508G= | CA2294858171 | ASXL3 | c.4663G= (p.Ala1555=) c.4660G= (p.Ala1554=) c.4540G= (p.Ala1514=) c.4636G= (p.Ala1546=) c.4582G= (p.Ala1528=) c.4543G= (p.Ala1515=) c.4492G= (p.Ala1498=) c.1624G= (p.Ala542=) | |
18 | g.33744508G>T | CA402191515 | ASXL3 | c.4663G>T (p.Ala1555Ser) c.4660G>T (p.Ala1554Ser) c.4540G>T (p.Ala1514Ser) c.4636G>T (p.Ala1546Ser) c.4582G>T (p.Ala1528Ser) c.4543G>T (p.Ala1515Ser) c.4492G>T (p.Ala1498Ser) c.1624G>T (p.Ala542Ser) | |
18 | g.33744509C>A | CA402191520 | ASXL3 | c.4664C>A (p.Ala1555Asp) c.4661C>A (p.Ala1554Asp) c.4541C>A (p.Ala1514Asp) c.4637C>A (p.Ala1546Asp) c.4583C>A (p.Ala1528Asp) c.4544C>A (p.Ala1515Asp) c.4493C>A (p.Ala1498Asp) c.1625C>A (p.Ala542Asp) | |
18 | g.33744509C>G | CA402191522 | ASXL3 | c.4664C>G (p.Ala1555Gly) c.4661C>G (p.Ala1554Gly) c.4541C>G (p.Ala1514Gly) c.4637C>G (p.Ala1546Gly) c.4583C>G (p.Ala1528Gly) c.4544C>G (p.Ala1515Gly) c.4493C>G (p.Ala1498Gly) c.1625C>G (p.Ala542Gly) | |
18 | g.33744509C>T | CA402191518 | ASXL3 | c.4664C>T (p.Ala1555Val) c.4661C>T (p.Ala1554Val) c.4541C>T (p.Ala1514Val) c.4637C>T (p.Ala1546Val) c.4583C>T (p.Ala1528Val) c.4544C>T (p.Ala1515Val) c.4493C>T (p.Ala1498Val) c.1625C>T (p.Ala542Val) | gnomAD v4 |
18 | g.33744510C>A | CA503770573 | ASXL3 | c.4665C>A (p.Ala1555=) c.4662C>A (p.Ala1554=) c.4542C>A (p.Ala1514=) c.4638C>A (p.Ala1546=) c.4584C>A (p.Ala1528=) c.4545C>A (p.Ala1515=) c.4494C>A (p.Ala1498=) c.1626C>A (p.Ala542=) | |
18 | g.33744510C>G | CA503770574 | ASXL3 | c.4665C>G (p.Ala1555=) c.4662C>G (p.Ala1554=) c.4542C>G (p.Ala1514=) c.4638C>G (p.Ala1546=) c.4584C>G (p.Ala1528=) c.4545C>G (p.Ala1515=) c.4494C>G (p.Ala1498=) c.1626C>G (p.Ala542=) | |
18 | g.33744510C>T | CA503770575 | ASXL3 | c.4665C>T (p.Ala1555=) c.4662C>T (p.Ala1554=) c.4542C>T (p.Ala1514=) c.4638C>T (p.Ala1546=) c.4584C>T (p.Ala1528=) c.4545C>T (p.Ala1515=) c.4494C>T (p.Ala1498=) c.1626C>T (p.Ala542=) | |
18 | g.33744511A>C | CA402191525 | ASXL3 | c.4666A>C (p.Thr1556Pro) c.4663A>C (p.Thr1555Pro) c.4543A>C (p.Thr1515Pro) c.4639A>C (p.Thr1547Pro) c.4585A>C (p.Thr1529Pro) c.4546A>C (p.Thr1516Pro) c.4495A>C (p.Thr1499Pro) c.1627A>C (p.Thr543Pro) | |
18 | g.33744511A>G | CA402191527 | ASXL3 | c.4666A>G (p.Thr1556Ala) c.4663A>G (p.Thr1555Ala) c.4543A>G (p.Thr1515Ala) c.4639A>G (p.Thr1547Ala) c.4585A>G (p.Thr1529Ala) c.4546A>G (p.Thr1516Ala) c.4495A>G (p.Thr1499Ala) c.1627A>G (p.Thr543Ala) | |
18 | g.33744511A>T | CA402191529 | ASXL3 | c.4666A>T (p.Thr1556Ser) c.4663A>T (p.Thr1555Ser) c.4543A>T (p.Thr1515Ser) c.4639A>T (p.Thr1547Ser) c.4585A>T (p.Thr1529Ser) c.4546A>T (p.Thr1516Ser) c.4495A>T (p.Thr1499Ser) c.1627A>T (p.Thr543Ser) | |
18 | g.33744512C>A | CA402191532 | ASXL3 | c.4667C>A (p.Thr1556Asn) c.4664C>A (p.Thr1555Asn) c.4544C>A (p.Thr1515Asn) c.4640C>A (p.Thr1547Asn) c.4586C>A (p.Thr1529Asn) c.4547C>A (p.Thr1516Asn) c.4496C>A (p.Thr1499Asn) c.1628C>A (p.Thr543Asn) | |
18 | g.33744512C>G | CA402191533 | ASXL3 | c.4667C>G (p.Thr1556Ser) c.4664C>G (p.Thr1555Ser) c.4544C>G (p.Thr1515Ser) c.4640C>G (p.Thr1547Ser) c.4586C>G (p.Thr1529Ser) c.4547C>G (p.Thr1516Ser) c.4496C>G (p.Thr1499Ser) c.1628C>G (p.Thr543Ser) | |
18 | g.33744512C>T | CA402191535 | ASXL3 | c.4667C>T (p.Thr1556Ile) c.4664C>T (p.Thr1555Ile) c.4544C>T (p.Thr1515Ile) c.4640C>T (p.Thr1547Ile) c.4586C>T (p.Thr1529Ile) c.4547C>T (p.Thr1516Ile) c.4496C>T (p.Thr1499Ile) c.1628C>T (p.Thr543Ile) | |
18 | g.33744513C>A | CA503770586 | ASXL3 | c.4668C>A (p.Thr1556=) c.4665C>A (p.Thr1555=) c.4545C>A (p.Thr1515=) c.4641C>A (p.Thr1547=) c.4587C>A (p.Thr1529=) c.4548C>A (p.Thr1516=) c.4497C>A (p.Thr1499=) c.1629C>A (p.Thr543=) | |
18 | g.33744513C= | CA2294858172 | ASXL3 | c.4668C= (p.Thr1556=) c.4665C= (p.Thr1555=) c.4545C= (p.Thr1515=) c.4641C= (p.Thr1547=) c.4587C= (p.Thr1529=) c.4548C= (p.Thr1516=) c.4497C= (p.Thr1499=) c.1629C= (p.Thr543=) | |
18 | g.33744513C>G | CA503770587 | ASXL3 | c.4668C>G (p.Thr1556=) c.4665C>G (p.Thr1555=) c.4545C>G (p.Thr1515=) c.4641C>G (p.Thr1547=) c.4587C>G (p.Thr1529=) c.4548C>G (p.Thr1516=) c.4497C>G (p.Thr1499=) c.1629C>G (p.Thr543=) | |
18 | g.33744513C>T | CA297793731 | ASXL3 | c.4668C>T (p.Thr1556=) c.4665C>T (p.Thr1555=) c.4545C>T (p.Thr1515=) c.4641C>T (p.Thr1547=) c.4587C>T (p.Thr1529=) c.4548C>T (p.Thr1516=) c.4497C>T (p.Thr1499=) c.1629C>T (p.Thr543=) | dbSNP |
18 | g.33744514T>A | CA402191539 | ASXL3 | c.4669T>A (p.Cys1557Ser) c.4666T>A (p.Cys1556Ser) c.4546T>A (p.Cys1516Ser) c.4642T>A (p.Cys1548Ser) c.4588T>A (p.Cys1530Ser) c.4549T>A (p.Cys1517Ser) c.4498T>A (p.Cys1500Ser) c.1630T>A (p.Cys544Ser) | |
18 | g.33744514T>C | CA402191541 | ASXL3 | c.4669T>C (p.Cys1557Arg) c.4666T>C (p.Cys1556Arg) c.4546T>C (p.Cys1516Arg) c.4642T>C (p.Cys1548Arg) c.4588T>C (p.Cys1530Arg) c.4549T>C (p.Cys1517Arg) c.4498T>C (p.Cys1500Arg) c.1630T>C (p.Cys544Arg) | |
18 | g.33744514T>G | CA402191543 | ASXL3 | c.4669T>G (p.Cys1557Gly) c.4666T>G (p.Cys1556Gly) c.4546T>G (p.Cys1516Gly) c.4642T>G (p.Cys1548Gly) c.4588T>G (p.Cys1530Gly) c.4549T>G (p.Cys1517Gly) c.4498T>G (p.Cys1500Gly) c.1630T>G (p.Cys544Gly) | |
18 | g.33744515G>A | CA402191547 | ASXL3 | c.4670G>A (p.Cys1557Tyr) c.4667G>A (p.Cys1556Tyr) c.4547G>A (p.Cys1516Tyr) c.4643G>A (p.Cys1548Tyr) c.4589G>A (p.Cys1530Tyr) c.4550G>A (p.Cys1517Tyr) c.4499G>A (p.Cys1500Tyr) c.1631G>A (p.Cys544Tyr) | gnomAD v4 |
18 | g.33744515G>C | CA402191549 | ASXL3 | c.4670G>C (p.Cys1557Ser) c.4667G>C (p.Cys1556Ser) c.4547G>C (p.Cys1516Ser) c.4643G>C (p.Cys1548Ser) c.4589G>C (p.Cys1530Ser) c.4550G>C (p.Cys1517Ser) c.4499G>C (p.Cys1500Ser) c.1631G>C (p.Cys544Ser) | |
18 | g.33744515G>T | CA402191551 | ASXL3 | c.4670G>T (p.Cys1557Phe) c.4667G>T (p.Cys1556Phe) c.4547G>T (p.Cys1516Phe) c.4643G>T (p.Cys1548Phe) c.4589G>T (p.Cys1530Phe) c.4550G>T (p.Cys1517Phe) c.4499G>T (p.Cys1500Phe) c.1631G>T (p.Cys544Phe) | |
18 | g.33744516C>A | CA402191557 | ASXL3 | c.4671C>A (p.Cys1557Ter) c.4668C>A (p.Cys1556Ter) c.4548C>A (p.Cys1516Ter) c.4644C>A (p.Cys1548Ter) c.4590C>A (p.Cys1530Ter) c.4551C>A (p.Cys1517Ter) c.4500C>A (p.Cys1500Ter) c.1632C>A (p.Cys544Ter) | |
18 | g.33744516C= | CA2294858173 | ASXL3 | c.4671C= (p.Cys1557=) c.4668C= (p.Cys1556=) c.4548C= (p.Cys1516=) c.4644C= (p.Cys1548=) c.4590C= (p.Cys1530=) c.4551C= (p.Cys1517=) c.4500C= (p.Cys1500=) c.1632C= (p.Cys544=) | |
18 | g.33744516C>G | CA402191559 | ASXL3 | c.4671C>G (p.Cys1557Trp) c.4668C>G (p.Cys1556Trp) c.4548C>G (p.Cys1516Trp) c.4644C>G (p.Cys1548Trp) c.4590C>G (p.Cys1530Trp) c.4551C>G (p.Cys1517Trp) c.4500C>G (p.Cys1500Trp) c.1632C>G (p.Cys544Trp) | |
18 | g.33744516C>T | CA8934308 | ASXL3 | c.4671C>T (p.Cys1557=) c.4668C>T (p.Cys1556=) c.4548C>T (p.Cys1516=) c.4644C>T (p.Cys1548=) c.4590C>T (p.Cys1530=) c.4551C>T (p.Cys1517=) c.4500C>T (p.Cys1500=) c.1632C>T (p.Cys544=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744517A= | CA2294858174 | ASXL3 | c.4672A= (p.Thr1558=) c.4669A= (p.Thr1557=) c.4549A= (p.Thr1517=) c.4645A= (p.Thr1549=) c.4591A= (p.Thr1531=) c.4552A= (p.Thr1518=) c.4501A= (p.Thr1501=) c.1633A= (p.Thr545=) | |
18 | g.33744517A>C | CA402191562 | ASXL3 | c.4672A>C (p.Thr1558Pro) c.4669A>C (p.Thr1557Pro) c.4549A>C (p.Thr1517Pro) c.4645A>C (p.Thr1549Pro) c.4591A>C (p.Thr1531Pro) c.4552A>C (p.Thr1518Pro) c.4501A>C (p.Thr1501Pro) c.1633A>C (p.Thr545Pro) | dbSNP |
18 | g.33744517A>G | CA402191564 | ASXL3 | c.4672A>G (p.Thr1558Ala) c.4669A>G (p.Thr1557Ala) c.4549A>G (p.Thr1517Ala) c.4645A>G (p.Thr1549Ala) c.4591A>G (p.Thr1531Ala) c.4552A>G (p.Thr1518Ala) c.4501A>G (p.Thr1501Ala) c.1633A>G (p.Thr545Ala) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33744517A>T | CA402191566 | ASXL3 | c.4672A>T (p.Thr1558Ser) c.4669A>T (p.Thr1557Ser) c.4549A>T (p.Thr1517Ser) c.4645A>T (p.Thr1549Ser) c.4591A>T (p.Thr1531Ser) c.4552A>T (p.Thr1518Ser) c.4501A>T (p.Thr1501Ser) c.1633A>T (p.Thr545Ser) | |
18 | g.33744518C>A | CA402191570 | ASXL3 | c.4673C>A (p.Thr1558Lys) c.4670C>A (p.Thr1557Lys) c.4550C>A (p.Thr1517Lys) c.4646C>A (p.Thr1549Lys) c.4592C>A (p.Thr1531Lys) c.4553C>A (p.Thr1518Lys) c.4502C>A (p.Thr1501Lys) c.1634C>A (p.Thr545Lys) | |
18 | g.33744518C>G | CA402191572 | ASXL3 | c.4673C>G (p.Thr1558Arg) c.4670C>G (p.Thr1557Arg) c.4550C>G (p.Thr1517Arg) c.4646C>G (p.Thr1549Arg) c.4592C>G (p.Thr1531Arg) c.4553C>G (p.Thr1518Arg) c.4502C>G (p.Thr1501Arg) c.1634C>G (p.Thr545Arg) | |
18 | g.33744518C>T | CA402191574 | ASXL3 | c.4673C>T (p.Thr1558Ile) c.4670C>T (p.Thr1557Ile) c.4550C>T (p.Thr1517Ile) c.4646C>T (p.Thr1549Ile) c.4592C>T (p.Thr1531Ile) c.4553C>T (p.Thr1518Ile) c.4502C>T (p.Thr1501Ile) c.1634C>T (p.Thr545Ile) | gnomAD v4 |
18 | g.33744519A= | CA2294858175 | ASXL3 | c.4674A= (p.Thr1558=) c.4671A= (p.Thr1557=) c.4551A= (p.Thr1517=) c.4647A= (p.Thr1549=) c.4593A= (p.Thr1531=) c.4554A= (p.Thr1518=) c.4503A= (p.Thr1501=) c.1635A= (p.Thr545=) | |
18 | g.33744519A>C | CA503770614 | ASXL3 | c.4674A>C (p.Thr1558=) c.4671A>C (p.Thr1557=) c.4551A>C (p.Thr1517=) c.4647A>C (p.Thr1549=) c.4593A>C (p.Thr1531=) c.4554A>C (p.Thr1518=) c.4503A>C (p.Thr1501=) c.1635A>C (p.Thr545=) | |
18 | g.33744519A>G | CA503770613 | ASXL3 | c.4674A>G (p.Thr1558=) c.4671A>G (p.Thr1557=) c.4551A>G (p.Thr1517=) c.4647A>G (p.Thr1549=) c.4593A>G (p.Thr1531=) c.4554A>G (p.Thr1518=) c.4503A>G (p.Thr1501=) c.1635A>G (p.Thr545=) | dbSNP |
18 | g.33744519A>T | CA503770611 | ASXL3 | c.4674A>T (p.Thr1558=) c.4671A>T (p.Thr1557=) c.4551A>T (p.Thr1517=) c.4647A>T (p.Thr1549=) c.4593A>T (p.Thr1531=) c.4554A>T (p.Thr1518=) c.4503A>T (p.Thr1501=) c.1635A>T (p.Thr545=) | |
18 | g.33744520A>C | CA402191577 | ASXL3 | c.4675A>C (p.Ser1559Arg) c.4672A>C (p.Ser1558Arg) c.4552A>C (p.Ser1518Arg) c.4648A>C (p.Ser1550Arg) c.4594A>C (p.Ser1532Arg) c.4555A>C (p.Ser1519Arg) c.4504A>C (p.Ser1502Arg) c.1636A>C (p.Ser546Arg) | |
18 | g.33744520A>G | CA402191582 | ASXL3 | c.4675A>G (p.Ser1559Gly) c.4672A>G (p.Ser1558Gly) c.4552A>G (p.Ser1518Gly) c.4648A>G (p.Ser1550Gly) c.4594A>G (p.Ser1532Gly) c.4555A>G (p.Ser1519Gly) c.4504A>G (p.Ser1502Gly) c.1636A>G (p.Ser546Gly) | |
18 | g.33744520A>T | CA402191579 | ASXL3 | c.4675A>T (p.Ser1559Cys) c.4672A>T (p.Ser1558Cys) c.4552A>T (p.Ser1518Cys) c.4648A>T (p.Ser1550Cys) c.4594A>T (p.Ser1532Cys) c.4555A>T (p.Ser1519Cys) c.4504A>T (p.Ser1502Cys) c.1636A>T (p.Ser546Cys) | |
18 | g.33744521G>A | CA402191586 | ASXL3 | c.4676G>A (p.Ser1559Asn) c.4673G>A (p.Ser1558Asn) c.4553G>A (p.Ser1518Asn) c.4649G>A (p.Ser1550Asn) c.4595G>A (p.Ser1532Asn) c.4556G>A (p.Ser1519Asn) c.4505G>A (p.Ser1502Asn) c.1637G>A (p.Ser546Asn) | |
18 | g.33744521G>C | CA402191587 | ASXL3 | c.4676G>C (p.Ser1559Thr) c.4673G>C (p.Ser1558Thr) c.4553G>C (p.Ser1518Thr) c.4649G>C (p.Ser1550Thr) c.4595G>C (p.Ser1532Thr) c.4556G>C (p.Ser1519Thr) c.4505G>C (p.Ser1502Thr) c.1637G>C (p.Ser546Thr) | |
18 | g.33744521G>T | CA402191589 | ASXL3 | c.4676G>T (p.Ser1559Ile) c.4673G>T (p.Ser1558Ile) c.4553G>T (p.Ser1518Ile) c.4649G>T (p.Ser1550Ile) c.4595G>T (p.Ser1532Ile) c.4556G>T (p.Ser1519Ile) c.4505G>T (p.Ser1502Ile) c.1637G>T (p.Ser546Ile) | dbSNP |
18 | g.33744522T>A | CA402191592 | ASXL3 | c.4677T>A (p.Ser1559Arg) c.4674T>A (p.Ser1558Arg) c.4554T>A (p.Ser1518Arg) c.4650T>A (p.Ser1550Arg) c.4596T>A (p.Ser1532Arg) c.4557T>A (p.Ser1519Arg) c.4506T>A (p.Ser1502Arg) c.1638T>A (p.Ser546Arg) | |
18 | g.33744522T>C | CA503770624 | ASXL3 | c.4677T>C (p.Ser1559=) c.4674T>C (p.Ser1558=) c.4554T>C (p.Ser1518=) c.4650T>C (p.Ser1550=) c.4596T>C (p.Ser1532=) c.4557T>C (p.Ser1519=) c.4506T>C (p.Ser1502=) c.1638T>C (p.Ser546=) | |
18 | g.33744522T>G | CA402191594 | ASXL3 | c.4677T>G (p.Ser1559Arg) c.4674T>G (p.Ser1558Arg) c.4554T>G (p.Ser1518Arg) c.4650T>G (p.Ser1550Arg) c.4596T>G (p.Ser1532Arg) c.4557T>G (p.Ser1519Arg) c.4506T>G (p.Ser1502Arg) c.1638T>G (p.Ser546Arg) | |
18 | g.33744523C>A | CA402191600 | ASXL3 | c.4678C>A (p.Leu1560Ile) c.4675C>A (p.Leu1559Ile) c.4555C>A (p.Leu1519Ile) c.4651C>A (p.Leu1551Ile) c.4597C>A (p.Leu1533Ile) c.4558C>A (p.Leu1520Ile) c.4507C>A (p.Leu1503Ile) c.1639C>A (p.Leu547Ile) | |
18 | g.33744523C>G | CA402191602 | ASXL3 | c.4678C>G (p.Leu1560Val) c.4675C>G (p.Leu1559Val) c.4555C>G (p.Leu1519Val) c.4651C>G (p.Leu1551Val) c.4597C>G (p.Leu1533Val) c.4558C>G (p.Leu1520Val) c.4507C>G (p.Leu1503Val) c.1639C>G (p.Leu547Val) | |
18 | g.33744523C>T | CA402191597 | ASXL3 | c.4678C>T (p.Leu1560Phe) c.4675C>T (p.Leu1559Phe) c.4555C>T (p.Leu1519Phe) c.4651C>T (p.Leu1551Phe) c.4597C>T (p.Leu1533Phe) c.4558C>T (p.Leu1520Phe) c.4507C>T (p.Leu1503Phe) c.1639C>T (p.Leu547Phe) | |
18 | g.33744524T>A | CA402191605 | ASXL3 | c.4679T>A (p.Leu1560His) c.4676T>A (p.Leu1559His) c.4556T>A (p.Leu1519His) c.4652T>A (p.Leu1551His) c.4598T>A (p.Leu1533His) c.4559T>A (p.Leu1520His) c.4508T>A (p.Leu1503His) c.1640T>A (p.Leu547His) | |
18 | g.33744524T>C | CA402191609 | ASXL3 | c.4679T>C (p.Leu1560Pro) c.4676T>C (p.Leu1559Pro) c.4556T>C (p.Leu1519Pro) c.4652T>C (p.Leu1551Pro) c.4598T>C (p.Leu1533Pro) c.4559T>C (p.Leu1520Pro) c.4508T>C (p.Leu1503Pro) c.1640T>C (p.Leu547Pro) | gnomAD v4 |
18 | g.33744524T>G | CA402191607 | ASXL3 | c.4679T>G (p.Leu1560Arg) c.4676T>G (p.Leu1559Arg) c.4556T>G (p.Leu1519Arg) c.4652T>G (p.Leu1551Arg) c.4598T>G (p.Leu1533Arg) c.4559T>G (p.Leu1520Arg) c.4508T>G (p.Leu1503Arg) c.1640T>G (p.Leu547Arg) | |
18 | g.33744525C>A | CA503770632 | ASXL3 | c.4680C>A (p.Leu1560=) c.4677C>A (p.Leu1559=) c.4557C>A (p.Leu1519=) c.4653C>A (p.Leu1551=) c.4599C>A (p.Leu1533=) c.4560C>A (p.Leu1520=) c.4509C>A (p.Leu1503=) c.1641C>A (p.Leu547=) | |
18 | g.33744525C= | CA2294858176 | ASXL3 | c.4680C= (p.Leu1560=) c.4677C= (p.Leu1559=) c.4557C= (p.Leu1519=) c.4653C= (p.Leu1551=) c.4599C= (p.Leu1533=) c.4560C= (p.Leu1520=) c.4509C= (p.Leu1503=) c.1641C= (p.Leu547=) | |
18 | g.33744525C>G | CA8934309 | ASXL3 | c.4680C>G (p.Leu1560=) c.4677C>G (p.Leu1559=) c.4557C>G (p.Leu1519=) c.4653C>G (p.Leu1551=) c.4599C>G (p.Leu1533=) c.4560C>G (p.Leu1520=) c.4509C>G (p.Leu1503=) c.1641C>G (p.Leu547=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744525C>T | CA503770633 | ASXL3 | c.4680C>T (p.Leu1560=) c.4677C>T (p.Leu1559=) c.4557C>T (p.Leu1519=) c.4653C>T (p.Leu1551=) c.4599C>T (p.Leu1533=) c.4560C>T (p.Leu1520=) c.4509C>T (p.Leu1503=) c.1641C>T (p.Leu547=) | |
18 | g.33744526C>A | CA503770635 | ASXL3 | c.4681C>A (p.Arg1561=) c.4678C>A (p.Arg1560=) c.4558C>A (p.Arg1520=) c.4654C>A (p.Arg1552=) c.4600C>A (p.Arg1534=) c.4561C>A (p.Arg1521=) c.4510C>A (p.Arg1504=) c.1642C>A (p.Arg548=) | |
18 | g.33744526C= | CA2294858177 | ASXL3 | c.4681C= (p.Arg1561=) c.4678C= (p.Arg1560=) c.4558C= (p.Arg1520=) c.4654C= (p.Arg1552=) c.4600C= (p.Arg1534=) c.4561C= (p.Arg1521=) c.4510C= (p.Arg1504=) c.1642C= (p.Arg548=) | |
18 | g.33744526C>G | CA8934310 | ASXL3 | c.4681C>G (p.Arg1561Gly) c.4678C>G (p.Arg1560Gly) c.4558C>G (p.Arg1520Gly) c.4654C>G (p.Arg1552Gly) c.4600C>G (p.Arg1534Gly) c.4561C>G (p.Arg1521Gly) c.4510C>G (p.Arg1504Gly) c.1642C>G (p.Arg548Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744526C>T | CA297793738 | ASXL3 | c.4681C>T (p.Arg1561Ter) c.4678C>T (p.Arg1560Ter) c.4558C>T (p.Arg1520Ter) c.4654C>T (p.Arg1552Ter) c.4600C>T (p.Arg1534Ter) c.4561C>T (p.Arg1521Ter) c.4510C>T (p.Arg1504Ter) c.1642C>T (p.Arg548Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.33744527G>A | CA8934311 | ASXL3 | c.4682G>A (p.Arg1561Gln) c.4679G>A (p.Arg1560Gln) c.4559G>A (p.Arg1520Gln) c.4655G>A (p.Arg1552Gln) c.4601G>A (p.Arg1534Gln) c.4562G>A (p.Arg1521Gln) c.4511G>A (p.Arg1504Gln) c.1643G>A (p.Arg548Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.33744527G>C | CA402191621 | ASXL3 | c.4682G>C (p.Arg1561Pro) c.4679G>C (p.Arg1560Pro) c.4559G>C (p.Arg1520Pro) c.4655G>C (p.Arg1552Pro) c.4601G>C (p.Arg1534Pro) c.4562G>C (p.Arg1521Pro) c.4511G>C (p.Arg1504Pro) c.1643G>C (p.Arg548Pro) | |
18 | g.33744527G= | CA2294858178 | ASXL3 | c.4682G= (p.Arg1561=) c.4679G= (p.Arg1560=) c.4559G= (p.Arg1520=) c.4655G= (p.Arg1552=) c.4601G= (p.Arg1534=) c.4562G= (p.Arg1521=) c.4511G= (p.Arg1504=) c.1643G= (p.Arg548=) | |
18 | g.33744527G>T | CA402191624 | ASXL3 | c.4682G>T (p.Arg1561Leu) c.4679G>T (p.Arg1560Leu) c.4559G>T (p.Arg1520Leu) c.4655G>T (p.Arg1552Leu) c.4601G>T (p.Arg1534Leu) c.4562G>T (p.Arg1521Leu) c.4511G>T (p.Arg1504Leu) c.1643G>T (p.Arg548Leu) | |
18 | g.33744528A= | CA2294858179 | ASXL3 | c.4683A= (p.Arg1561=) c.4680A= (p.Arg1560=) c.4560A= (p.Arg1520=) c.4656A= (p.Arg1552=) c.4602A= (p.Arg1534=) c.4563A= (p.Arg1521=) c.4512A= (p.Arg1504=) c.1644A= (p.Arg548=) | |
18 | g.33744528A>C | CA503770640 | ASXL3 | c.4683A>C (p.Arg1561=) c.4680A>C (p.Arg1560=) c.4560A>C (p.Arg1520=) c.4656A>C (p.Arg1552=) c.4602A>C (p.Arg1534=) c.4563A>C (p.Arg1521=) c.4512A>C (p.Arg1504=) c.1644A>C (p.Arg548=) | |
18 | g.33744528A>G | CA503770641 | ASXL3 | c.4683A>G (p.Arg1561=) c.4680A>G (p.Arg1560=) c.4560A>G (p.Arg1520=) c.4656A>G (p.Arg1552=) c.4602A>G (p.Arg1534=) c.4563A>G (p.Arg1521=) c.4512A>G (p.Arg1504=) c.1644A>G (p.Arg548=) | |
18 | g.33744528A>T | CA503770642 | ASXL3 | c.4683A>T (p.Arg1561=) c.4680A>T (p.Arg1560=) c.4560A>T (p.Arg1520=) c.4656A>T (p.Arg1552=) c.4602A>T (p.Arg1534=) c.4563A>T (p.Arg1521=) c.4512A>T (p.Arg1504=) c.1644A>T (p.Arg548=) | dbSNP |
18 | g.33744529G>A | CA402191628 | ASXL3 | c.4684G>A (p.Glu1562Lys) c.4681G>A (p.Glu1561Lys) c.4561G>A (p.Glu1521Lys) c.4657G>A (p.Glu1553Lys) c.4603G>A (p.Glu1535Lys) c.4564G>A (p.Glu1522Lys) c.4513G>A (p.Glu1505Lys) c.1645G>A (p.Glu549Lys) | |
18 | g.33744529G>C | CA402191631 | ASXL3 | c.4684G>C (p.Glu1562Gln) c.4681G>C (p.Glu1561Gln) c.4561G>C (p.Glu1521Gln) c.4657G>C (p.Glu1553Gln) c.4603G>C (p.Glu1535Gln) c.4564G>C (p.Glu1522Gln) c.4513G>C (p.Glu1505Gln) c.1645G>C (p.Glu549Gln) | |
18 | g.33744529G>T | CA402191633 | ASXL3 | c.4684G>T (p.Glu1562Ter) c.4681G>T (p.Glu1561Ter) c.4561G>T (p.Glu1521Ter) c.4657G>T (p.Glu1553Ter) c.4603G>T (p.Glu1535Ter) c.4564G>T (p.Glu1522Ter) c.4513G>T (p.Glu1505Ter) c.1645G>T (p.Glu549Ter) | gnomAD v4 |
18 | g.33744530A>C | CA402191636 | ASXL3 | c.4685A>C (p.Glu1562Ala) c.4682A>C (p.Glu1561Ala) c.4562A>C (p.Glu1521Ala) c.4658A>C (p.Glu1553Ala) c.4604A>C (p.Glu1535Ala) c.4565A>C (p.Glu1522Ala) c.4514A>C (p.Glu1505Ala) c.1646A>C (p.Glu549Ala) | |
18 | g.33744530A>G | CA402191638 | ASXL3 | c.4685A>G (p.Glu1562Gly) c.4682A>G (p.Glu1561Gly) c.4562A>G (p.Glu1521Gly) c.4658A>G (p.Glu1553Gly) c.4604A>G (p.Glu1535Gly) c.4565A>G (p.Glu1522Gly) c.4514A>G (p.Glu1505Gly) c.1646A>G (p.Glu549Gly) | |
18 | g.33744530A>T | CA402191640 | ASXL3 | c.4685A>T (p.Glu1562Val) c.4682A>T (p.Glu1561Val) c.4562A>T (p.Glu1521Val) c.4658A>T (p.Glu1553Val) c.4604A>T (p.Glu1535Val) c.4565A>T (p.Glu1522Val) c.4514A>T (p.Glu1505Val) c.1646A>T (p.Glu549Val) | |
18 | g.33744531A>C | CA402191645 | ASXL3 | c.4686A>C (p.Glu1562Asp) c.4683A>C (p.Glu1561Asp) c.4563A>C (p.Glu1521Asp) c.4659A>C (p.Glu1553Asp) c.4605A>C (p.Glu1535Asp) c.4566A>C (p.Glu1522Asp) c.4515A>C (p.Glu1505Asp) c.1647A>C (p.Glu549Asp) | |
18 | g.33744531A>G | CA503770646 | ASXL3 | c.4686A>G (p.Glu1562=) c.4683A>G (p.Glu1561=) c.4563A>G (p.Glu1521=) c.4659A>G (p.Glu1553=) c.4605A>G (p.Glu1535=) c.4566A>G (p.Glu1522=) c.4515A>G (p.Glu1505=) c.1647A>G (p.Glu549=) | |
18 | g.33744531A>T | CA402191643 | ASXL3 | c.4686A>T (p.Glu1562Asp) c.4683A>T (p.Glu1561Asp) c.4563A>T (p.Glu1521Asp) c.4659A>T (p.Glu1553Asp) c.4605A>T (p.Glu1535Asp) c.4566A>T (p.Glu1522Asp) c.4515A>T (p.Glu1505Asp) c.1647A>T (p.Glu549Asp) | |
18 | g.33744532T>A | CA402191648 | ASXL3 | c.4687T>A (p.Leu1563Ile) c.4684T>A (p.Leu1562Ile) c.4564T>A (p.Leu1522Ile) c.4660T>A (p.Leu1554Ile) c.4606T>A (p.Leu1536Ile) c.4567T>A (p.Leu1523Ile) c.4516T>A (p.Leu1506Ile) c.1648T>A (p.Leu550Ile) | |
18 | g.33744532T>C | CA503770648 | ASXL3 | c.4687T>C (p.Leu1563=) c.4684T>C (p.Leu1562=) c.4564T>C (p.Leu1522=) c.4660T>C (p.Leu1554=) c.4606T>C (p.Leu1536=) c.4567T>C (p.Leu1523=) c.4516T>C (p.Leu1506=) c.1648T>C (p.Leu550=) | |
18 | g.33744532T>G | CA402191650 | ASXL3 | c.4687T>G (p.Leu1563Val) c.4684T>G (p.Leu1562Val) c.4564T>G (p.Leu1522Val) c.4660T>G (p.Leu1554Val) c.4606T>G (p.Leu1536Val) c.4567T>G (p.Leu1523Val) c.4516T>G (p.Leu1506Val) c.1648T>G (p.Leu550Val) | |
18 | g.33744533T>A | CA402191654 | ASXL3 | c.4688T>A (p.Leu1563Ter) c.4685T>A (p.Leu1562Ter) c.4565T>A (p.Leu1522Ter) c.4661T>A (p.Leu1554Ter) c.4607T>A (p.Leu1536Ter) c.4568T>A (p.Leu1523Ter) c.4517T>A (p.Leu1506Ter) c.1649T>A (p.Leu550Ter) | |
18 | g.33744533T>C | CA402191656 | ASXL3 | c.4688T>C (p.Leu1563Ser) c.4685T>C (p.Leu1562Ser) c.4565T>C (p.Leu1522Ser) c.4661T>C (p.Leu1554Ser) c.4607T>C (p.Leu1536Ser) c.4568T>C (p.Leu1523Ser) c.4517T>C (p.Leu1506Ser) c.1649T>C (p.Leu550Ser) | gnomAD v4 |
18 | g.33744533T>G | CA402191659 | ASXL3 | c.4688T>G (p.Leu1563Ter) c.4685T>G (p.Leu1562Ter) c.4565T>G (p.Leu1522Ter) c.4661T>G (p.Leu1554Ter) c.4607T>G (p.Leu1536Ter) c.4568T>G (p.Leu1523Ter) c.4517T>G (p.Leu1506Ter) c.1649T>G (p.Leu550Ter) | |
18 | g.33744534A>C | CA402191662 | ASXL3 | c.4689A>C (p.Leu1563Phe) c.4686A>C (p.Leu1562Phe) c.4566A>C (p.Leu1522Phe) c.4662A>C (p.Leu1554Phe) c.4608A>C (p.Leu1536Phe) c.4569A>C (p.Leu1523Phe) c.4518A>C (p.Leu1506Phe) c.1650A>C (p.Leu550Phe) | |
18 | g.33744534A>G | CA503770654 | ASXL3 | c.4689A>G (p.Leu1563=) c.4686A>G (p.Leu1562=) c.4566A>G (p.Leu1522=) c.4662A>G (p.Leu1554=) c.4608A>G (p.Leu1536=) c.4569A>G (p.Leu1523=) c.4518A>G (p.Leu1506=) c.1650A>G (p.Leu550=) | |
18 | g.33744534A>T | CA402191664 | ASXL3 | c.4689A>T (p.Leu1563Phe) c.4686A>T (p.Leu1562Phe) c.4566A>T (p.Leu1522Phe) c.4662A>T (p.Leu1554Phe) c.4608A>T (p.Leu1536Phe) c.4569A>T (p.Leu1523Phe) c.4518A>T (p.Leu1506Phe) c.1650A>T (p.Leu550Phe) | |
18 | g.33744535C>A | CA402191667 | ASXL3 | c.4690C>A (p.Pro1564Thr) c.4687C>A (p.Pro1563Thr) c.4567C>A (p.Pro1523Thr) c.4663C>A (p.Pro1555Thr) c.4609C>A (p.Pro1537Thr) c.4570C>A (p.Pro1524Thr) c.4519C>A (p.Pro1507Thr) c.1651C>A (p.Pro551Thr) | |
18 | g.33744535C>G | CA402191670 | ASXL3 | c.4690C>G (p.Pro1564Ala) c.4687C>G (p.Pro1563Ala) c.4567C>G (p.Pro1523Ala) c.4663C>G (p.Pro1555Ala) c.4609C>G (p.Pro1537Ala) c.4570C>G (p.Pro1524Ala) c.4519C>G (p.Pro1507Ala) c.1651C>G (p.Pro551Ala) | |
18 | g.33744535C>T | CA402191672 | ASXL3 | c.4690C>T (p.Pro1564Ser) c.4687C>T (p.Pro1563Ser) c.4567C>T (p.Pro1523Ser) c.4663C>T (p.Pro1555Ser) c.4609C>T (p.Pro1537Ser) c.4570C>T (p.Pro1524Ser) c.4519C>T (p.Pro1507Ser) c.1651C>T (p.Pro551Ser) | ClinVar gnomAD v4 |
18 | g.33744536C>A | CA402191676 | ASXL3 | c.4691C>A (p.Pro1564His) c.4688C>A (p.Pro1563His) c.4568C>A (p.Pro1523His) c.4664C>A (p.Pro1555His) c.4610C>A (p.Pro1537His) c.4571C>A (p.Pro1524His) c.4520C>A (p.Pro1507His) c.1652C>A (p.Pro551His) | dbSNP |
18 | g.33744536C= | CA2294858180 | ASXL3 | c.4691C= (p.Pro1564=) c.4688C= (p.Pro1563=) c.4568C= (p.Pro1523=) c.4664C= (p.Pro1555=) c.4610C= (p.Pro1537=) c.4571C= (p.Pro1524=) c.4520C= (p.Pro1507=) c.1652C= (p.Pro551=) | |
18 | g.33744536C>G | CA402191678 | ASXL3 | c.4691C>G (p.Pro1564Arg) c.4688C>G (p.Pro1563Arg) c.4568C>G (p.Pro1523Arg) c.4664C>G (p.Pro1555Arg) c.4610C>G (p.Pro1537Arg) c.4571C>G (p.Pro1524Arg) c.4520C>G (p.Pro1507Arg) c.1652C>G (p.Pro551Arg) | |
18 | g.33744536C>T | CA402191680 | ASXL3 | c.4691C>T (p.Pro1564Leu) c.4688C>T (p.Pro1563Leu) c.4568C>T (p.Pro1523Leu) c.4664C>T (p.Pro1555Leu) c.4610C>T (p.Pro1537Leu) c.4571C>T (p.Pro1524Leu) c.4520C>T (p.Pro1507Leu) c.1652C>T (p.Pro551Leu) | gnomAD v4 |
18 | g.33744537C>A | CA8934312 | ASXL3 | c.4692C>A (p.Pro1564=) c.4689C>A (p.Pro1563=) c.4569C>A (p.Pro1523=) c.4665C>A (p.Pro1555=) c.4611C>A (p.Pro1537=) c.4572C>A (p.Pro1524=) c.4521C>A (p.Pro1507=) c.1653C>A (p.Pro551=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.33744537C= | CA2294858181 | ASXL3 | c.4692C= (p.Pro1564=) c.4689C= (p.Pro1563=) c.4569C= (p.Pro1523=) c.4665C= (p.Pro1555=) c.4611C= (p.Pro1537=) c.4572C= (p.Pro1524=) c.4521C= (p.Pro1507=) c.1653C= (p.Pro551=) | |
18 | g.33744537C>G | CA8934313 | ASXL3 | c.4692C>G (p.Pro1564=) c.4689C>G (p.Pro1563=) c.4569C>G (p.Pro1523=) c.4665C>G (p.Pro1555=) c.4611C>G (p.Pro1537=) c.4572C>G (p.Pro1524=) c.4521C>G (p.Pro1507=) c.1653C>G (p.Pro551=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744537C>T | CA503770665 | ASXL3 | c.4692C>T (p.Pro1564=) c.4689C>T (p.Pro1563=) c.4569C>T (p.Pro1523=) c.4665C>T (p.Pro1555=) c.4611C>T (p.Pro1537=) c.4572C>T (p.Pro1524=) c.4521C>T (p.Pro1507=) c.1653C>T (p.Pro551=) | |
18 | g.33744538C>A | CA402191688 | ASXL3 | c.4693C>A (p.Leu1565Ile) c.4690C>A (p.Leu1564Ile) c.4570C>A (p.Leu1524Ile) c.4666C>A (p.Leu1556Ile) c.4612C>A (p.Leu1538Ile) c.4573C>A (p.Leu1525Ile) c.4522C>A (p.Leu1508Ile) c.1654C>A (p.Leu552Ile) | gnomAD v4 |
18 | g.33744538C= | CA2294858182 | ASXL3 | c.4693C= (p.Leu1565=) c.4690C= (p.Leu1564=) c.4570C= (p.Leu1524=) c.4666C= (p.Leu1556=) c.4612C= (p.Leu1538=) c.4573C= (p.Leu1525=) c.4522C= (p.Leu1508=) c.1654C= (p.Leu552=) | |
18 | g.33744538C>G | CA402191690 | ASXL3 | c.4693C>G (p.Leu1565Val) c.4690C>G (p.Leu1564Val) c.4570C>G (p.Leu1524Val) c.4666C>G (p.Leu1556Val) c.4612C>G (p.Leu1538Val) c.4573C>G (p.Leu1525Val) c.4522C>G (p.Leu1508Val) c.1654C>G (p.Leu552Val) | gnomAD v4 |
18 | g.33744538C>T | CA402191692 | ASXL3 | c.4693C>T (p.Leu1565Phe) c.4690C>T (p.Leu1564Phe) c.4570C>T (p.Leu1524Phe) c.4666C>T (p.Leu1556Phe) c.4612C>T (p.Leu1538Phe) c.4573C>T (p.Leu1525Phe) c.4522C>T (p.Leu1508Phe) c.1654C>T (p.Leu552Phe) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33744539T>A | CA402191695 | ASXL3 | c.4694T>A (p.Leu1565His) c.4691T>A (p.Leu1564His) c.4571T>A (p.Leu1524His) c.4667T>A (p.Leu1556His) c.4613T>A (p.Leu1538His) c.4574T>A (p.Leu1525His) c.4523T>A (p.Leu1508His) c.1655T>A (p.Leu552His) | |
18 | g.33744539T>C | CA402191697 | ASXL3 | c.4694T>C (p.Leu1565Pro) c.4691T>C (p.Leu1564Pro) c.4571T>C (p.Leu1524Pro) c.4667T>C (p.Leu1556Pro) c.4613T>C (p.Leu1538Pro) c.4574T>C (p.Leu1525Pro) c.4523T>C (p.Leu1508Pro) c.1655T>C (p.Leu552Pro) | |
18 | g.33744539T>G | CA402191698 | ASXL3 | c.4694T>G (p.Leu1565Arg) c.4691T>G (p.Leu1564Arg) c.4571T>G (p.Leu1524Arg) c.4667T>G (p.Leu1556Arg) c.4613T>G (p.Leu1538Arg) c.4574T>G (p.Leu1525Arg) c.4523T>G (p.Leu1508Arg) c.1655T>G (p.Leu552Arg) | |
18 | g.33744540T>A | CA503770670 | ASXL3 | c.4695T>A (p.Leu1565=) c.4692T>A (p.Leu1564=) c.4572T>A (p.Leu1524=) c.4668T>A (p.Leu1556=) c.4614T>A (p.Leu1538=) c.4575T>A (p.Leu1525=) c.4524T>A (p.Leu1508=) c.1656T>A (p.Leu552=) | |
18 | g.33744540T>C | CA503770673 | ASXL3 | c.4695T>C (p.Leu1565=) c.4692T>C (p.Leu1564=) c.4572T>C (p.Leu1524=) c.4668T>C (p.Leu1556=) c.4614T>C (p.Leu1538=) c.4575T>C (p.Leu1525=) c.4524T>C (p.Leu1508=) c.1656T>C (p.Leu552=) | dbSNP gnomAD v4 |
18 | g.33744540T>G | CA503770675 | ASXL3 | c.4695T>G (p.Leu1565=) c.4692T>G (p.Leu1564=) c.4572T>G (p.Leu1524=) c.4668T>G (p.Leu1556=) c.4614T>G (p.Leu1538=) c.4575T>G (p.Leu1525=) c.4524T>G (p.Leu1508=) c.1656T>G (p.Leu552=) | |
18 | g.33744540T= | CA2294858183 | ASXL3 | c.4695T= (p.Leu1565=) c.4692T= (p.Leu1564=) c.4572T= (p.Leu1524=) c.4668T= (p.Leu1556=) c.4614T= (p.Leu1538=) c.4575T= (p.Leu1525=) c.4524T= (p.Leu1508=) c.1656T= (p.Leu552=) | |
18 | g.33744541G>A | CA402191704 | ASXL3 | c.4696G>A (p.Val1566Ile) c.4693G>A (p.Val1565Ile) c.4573G>A (p.Val1525Ile) c.4669G>A (p.Val1557Ile) c.4615G>A (p.Val1539Ile) c.4576G>A (p.Val1526Ile) c.4525G>A (p.Val1509Ile) c.1657G>A (p.Val553Ile) | |
18 | g.33744541G>C | CA402191702 | ASXL3 | c.4696G>C (p.Val1566Leu) c.4693G>C (p.Val1565Leu) c.4573G>C (p.Val1525Leu) c.4669G>C (p.Val1557Leu) c.4615G>C (p.Val1539Leu) c.4576G>C (p.Val1526Leu) c.4525G>C (p.Val1509Leu) c.1657G>C (p.Val553Leu) | |
18 | g.33744541G>T | CA402191700 | ASXL3 | c.4696G>T (p.Val1566Phe) c.4693G>T (p.Val1565Phe) c.4573G>T (p.Val1525Phe) c.4669G>T (p.Val1557Phe) c.4615G>T (p.Val1539Phe) c.4576G>T (p.Val1526Phe) c.4525G>T (p.Val1509Phe) c.1657G>T (p.Val553Phe) | |
18 | g.33744542T>A | CA402191707 | ASXL3 | c.4697T>A (p.Val1566Asp) c.4694T>A (p.Val1565Asp) c.4574T>A (p.Val1525Asp) c.4670T>A (p.Val1557Asp) c.4616T>A (p.Val1539Asp) c.4577T>A (p.Val1526Asp) c.4526T>A (p.Val1509Asp) c.1658T>A (p.Val553Asp) | |
18 | g.33744542T>C | CA402191709 | ASXL3 | c.4697T>C (p.Val1566Ala) c.4694T>C (p.Val1565Ala) c.4574T>C (p.Val1525Ala) c.4670T>C (p.Val1557Ala) c.4616T>C (p.Val1539Ala) c.4577T>C (p.Val1526Ala) c.4526T>C (p.Val1509Ala) c.1658T>C (p.Val553Ala) | dbSNP |
18 | g.33744542T>G | CA402191712 | ASXL3 | c.4697T>G (p.Val1566Gly) c.4694T>G (p.Val1565Gly) c.4574T>G (p.Val1525Gly) c.4670T>G (p.Val1557Gly) c.4616T>G (p.Val1539Gly) c.4577T>G (p.Val1526Gly) c.4526T>G (p.Val1509Gly) c.1658T>G (p.Val553Gly) | |
18 | g.33744542T= | CA2294858184 | ASXL3 | c.4697T= (p.Val1566=) c.4694T= (p.Val1565=) c.4574T= (p.Val1525=) c.4670T= (p.Val1557=) c.4616T= (p.Val1539=) c.4577T= (p.Val1526=) c.4526T= (p.Val1509=) c.1658T= (p.Val553=) | |
18 | g.33744543T>A | CA503770686 | ASXL3 | c.4698T>A (p.Val1566=) c.4695T>A (p.Val1565=) c.4575T>A (p.Val1525=) c.4671T>A (p.Val1557=) c.4617T>A (p.Val1539=) c.4578T>A (p.Val1526=) c.4527T>A (p.Val1509=) c.1659T>A (p.Val553=) | |
18 | g.33744543T>C | CA503770684 | ASXL3 | c.4698T>C (p.Val1566=) c.4695T>C (p.Val1565=) c.4575T>C (p.Val1525=) c.4671T>C (p.Val1557=) c.4617T>C (p.Val1539=) c.4578T>C (p.Val1526=) c.4527T>C (p.Val1509=) c.1659T>C (p.Val553=) | gnomAD v4 |
18 | g.33744543T>G | CA503770682 | ASXL3 | c.4698T>G (p.Val1566=) c.4695T>G (p.Val1565=) c.4575T>G (p.Val1525=) c.4671T>G (p.Val1557=) c.4617T>G (p.Val1539=) c.4578T>G (p.Val1526=) c.4527T>G (p.Val1509=) c.1659T>G (p.Val553=) | |
18 | g.33744544C>A | CA402191715 | ASXL3 | c.4699C>A (p.Pro1567Thr) c.4696C>A (p.Pro1566Thr) c.4576C>A (p.Pro1526Thr) c.4672C>A (p.Pro1558Thr) c.4618C>A (p.Pro1540Thr) c.4579C>A (p.Pro1527Thr) c.4528C>A (p.Pro1510Thr) c.1660C>A (p.Pro554Thr) | |
18 | g.33744544C>G | CA402191718 | ASXL3 | c.4699C>G (p.Pro1567Ala) c.4696C>G (p.Pro1566Ala) c.4576C>G (p.Pro1526Ala) c.4672C>G (p.Pro1558Ala) c.4618C>G (p.Pro1540Ala) c.4579C>G (p.Pro1527Ala) c.4528C>G (p.Pro1510Ala) c.1660C>G (p.Pro554Ala) | gnomAD v4 |
18 | g.33744544C>T | CA402191720 | ASXL3 | c.4699C>T (p.Pro1567Ser) c.4696C>T (p.Pro1566Ser) c.4576C>T (p.Pro1526Ser) c.4672C>T (p.Pro1558Ser) c.4618C>T (p.Pro1540Ser) c.4579C>T (p.Pro1527Ser) c.4528C>T (p.Pro1510Ser) c.1660C>T (p.Pro554Ser) | ClinVar gnomAD v4 COSMIC |
18 | g.33744545C>A | CA402191723 | ASXL3 | c.4700C>A (p.Pro1567Gln) c.4697C>A (p.Pro1566Gln) c.4577C>A (p.Pro1526Gln) c.4673C>A (p.Pro1558Gln) c.4619C>A (p.Pro1540Gln) c.4580C>A (p.Pro1527Gln) c.4529C>A (p.Pro1510Gln) c.1661C>A (p.Pro554Gln) | |
18 | g.33744545C>G | CA402191727 | ASXL3 | c.4700C>G (p.Pro1567Arg) c.4697C>G (p.Pro1566Arg) c.4577C>G (p.Pro1526Arg) c.4673C>G (p.Pro1558Arg) c.4619C>G (p.Pro1540Arg) c.4580C>G (p.Pro1527Arg) c.4529C>G (p.Pro1510Arg) c.1661C>G (p.Pro554Arg) | |
18 | g.33744545C>T | CA402191725 | ASXL3 | c.4700C>T (p.Pro1567Leu) c.4697C>T (p.Pro1566Leu) c.4577C>T (p.Pro1526Leu) c.4673C>T (p.Pro1558Leu) c.4619C>T (p.Pro1540Leu) c.4580C>T (p.Pro1527Leu) c.4529C>T (p.Pro1510Leu) c.1661C>T (p.Pro554Leu) | gnomAD v4 |
18 | g.33744546A= | CA2294858185 | ASXL3 | c.4701A= (p.Pro1567=) c.4698A= (p.Pro1566=) c.4578A= (p.Pro1526=) c.4674A= (p.Pro1558=) c.4620A= (p.Pro1540=) c.4581A= (p.Pro1527=) c.4530A= (p.Pro1510=) c.1662A= (p.Pro554=) | |
18 | g.33744546A>C | CA503770690 | ASXL3 | c.4701A>C (p.Pro1567=) c.4698A>C (p.Pro1566=) c.4578A>C (p.Pro1526=) c.4674A>C (p.Pro1558=) c.4620A>C (p.Pro1540=) c.4581A>C (p.Pro1527=) c.4530A>C (p.Pro1510=) c.1662A>C (p.Pro554=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33744546A>G | CA503770691 | ASXL3 | c.4701A>G (p.Pro1567=) c.4698A>G (p.Pro1566=) c.4578A>G (p.Pro1526=) c.4674A>G (p.Pro1558=) c.4620A>G (p.Pro1540=) c.4581A>G (p.Pro1527=) c.4530A>G (p.Pro1510=) c.1662A>G (p.Pro554=) | |
18 | g.33744546A>T | CA503770692 | ASXL3 | c.4701A>T (p.Pro1567=) c.4698A>T (p.Pro1566=) c.4578A>T (p.Pro1526=) c.4674A>T (p.Pro1558=) c.4620A>T (p.Pro1540=) c.4581A>T (p.Pro1527=) c.4530A>T (p.Pro1510=) c.1662A>T (p.Pro554=) | |
18 | g.33744547G>A | CA402191731 | ASXL3 | c.4702G>A (p.Asp1568Asn) c.4699G>A (p.Asp1567Asn) c.4579G>A (p.Asp1527Asn) c.4675G>A (p.Asp1559Asn) c.4621G>A (p.Asp1541Asn) c.4582G>A (p.Asp1528Asn) c.4531G>A (p.Asp1511Asn) c.1663G>A (p.Asp555Asn) | |
18 | g.33744547G>C | CA402191733 | ASXL3 | c.4702G>C (p.Asp1568His) c.4699G>C (p.Asp1567His) c.4579G>C (p.Asp1527His) c.4675G>C (p.Asp1559His) c.4621G>C (p.Asp1541His) c.4582G>C (p.Asp1528His) c.4531G>C (p.Asp1511His) c.1663G>C (p.Asp555His) | dbSNP gnomAD v4 |
18 | g.33744547G>T | CA402191734 | ASXL3 | c.4702G>T (p.Asp1568Tyr) c.4699G>T (p.Asp1567Tyr) c.4579G>T (p.Asp1527Tyr) c.4675G>T (p.Asp1559Tyr) c.4621G>T (p.Asp1541Tyr) c.4582G>T (p.Asp1528Tyr) c.4531G>T (p.Asp1511Tyr) c.1663G>T (p.Asp555Tyr) | |
18 | g.33744548A= | CA2294858186 | ASXL3 | c.4703A= (p.Asp1568=) c.4700A= (p.Asp1567=) c.4580A= (p.Asp1527=) c.4676A= (p.Asp1559=) c.4622A= (p.Asp1541=) c.4583A= (p.Asp1528=) c.4532A= (p.Asp1511=) c.1664A= (p.Asp555=) | |
18 | g.33744548A>C | CA402191736 | ASXL3 | c.4703A>C (p.Asp1568Ala) c.4700A>C (p.Asp1567Ala) c.4580A>C (p.Asp1527Ala) c.4676A>C (p.Asp1559Ala) c.4622A>C (p.Asp1541Ala) c.4583A>C (p.Asp1528Ala) c.4532A>C (p.Asp1511Ala) c.1664A>C (p.Asp555Ala) | |
18 | g.33744548A>G | CA402191738 | ASXL3 | c.4703A>G (p.Asp1568Gly) c.4700A>G (p.Asp1567Gly) c.4580A>G (p.Asp1527Gly) c.4676A>G (p.Asp1559Gly) c.4622A>G (p.Asp1541Gly) c.4583A>G (p.Asp1528Gly) c.4532A>G (p.Asp1511Gly) c.1664A>G (p.Asp555Gly) | dbSNP |
18 | g.33744548A>T | CA402191740 | ASXL3 | c.4703A>T (p.Asp1568Val) c.4700A>T (p.Asp1567Val) c.4580A>T (p.Asp1527Val) c.4676A>T (p.Asp1559Val) c.4622A>T (p.Asp1541Val) c.4583A>T (p.Asp1528Val) c.4532A>T (p.Asp1511Val) c.1664A>T (p.Asp555Val) | |
18 | g.33744549T>A | CA402191741 | ASXL3 | c.4704T>A (p.Asp1568Glu) c.4701T>A (p.Asp1567Glu) c.4581T>A (p.Asp1527Glu) c.4677T>A (p.Asp1559Glu) c.4623T>A (p.Asp1541Glu) c.4584T>A (p.Asp1528Glu) c.4533T>A (p.Asp1511Glu) c.1665T>A (p.Asp555Glu) | gnomAD v4 |
18 | g.33744549T>C | CA503770701 | ASXL3 | c.4704T>C (p.Asp1568=) c.4701T>C (p.Asp1567=) c.4581T>C (p.Asp1527=) c.4677T>C (p.Asp1559=) c.4623T>C (p.Asp1541=) c.4584T>C (p.Asp1528=) c.4533T>C (p.Asp1511=) c.1665T>C (p.Asp555=) | |
18 | g.33744549T>G | CA402191742 | ASXL3 | c.4704T>G (p.Asp1568Glu) c.4701T>G (p.Asp1567Glu) c.4581T>G (p.Asp1527Glu) c.4677T>G (p.Asp1559Glu) c.4623T>G (p.Asp1541Glu) c.4584T>G (p.Asp1528Glu) c.4533T>G (p.Asp1511Glu) c.1665T>G (p.Asp555Glu) | |
18 | g.33744554_33744558del | CA2580612977 | ASXL3 | c.4709_4713del (p.Leu1570Ter) c.4706_4710del (p.Leu1569Ter) c.4586_4590del (p.Leu1529Ter) c.4682_4686del (p.Leu1561Ter) c.4628_4632del (p.Leu1543Ter) c.4589_4593del (p.Leu1530Ter) c.4538_4542del (p.Leu1513Ter) c.1670_1674del (p.Leu557Ter) | ClinVar dbSNP |
18 | g.33744550A= | CA2294858187 | ASXL3 | c.4705A= (p.Lys1569=) c.4702A= (p.Lys1568=) c.4582A= (p.Lys1528=) c.4678A= (p.Lys1560=) c.4624A= (p.Lys1542=) c.4585A= (p.Lys1529=) c.4534A= (p.Lys1512=) c.1666A= (p.Lys556=) | |
18 | g.33744550A>C | CA402191743 | ASXL3 | c.4705A>C (p.Lys1569Gln) c.4702A>C (p.Lys1568Gln) c.4582A>C (p.Lys1528Gln) c.4678A>C (p.Lys1560Gln) c.4624A>C (p.Lys1542Gln) c.4585A>C (p.Lys1529Gln) c.4534A>C (p.Lys1512Gln) c.1666A>C (p.Lys556Gln) | gnomAD v4 |
18 | g.33744550A>G | CA402191744 | ASXL3 | c.4705A>G (p.Lys1569Glu) c.4702A>G (p.Lys1568Glu) c.4582A>G (p.Lys1528Glu) c.4678A>G (p.Lys1560Glu) c.4624A>G (p.Lys1542Glu) c.4585A>G (p.Lys1529Glu) c.4534A>G (p.Lys1512Glu) c.1666A>G (p.Lys556Glu) | dbSNP gnomAD v4 |
18 | g.33744550A>T | CA402191745 | ASXL3 | c.4705A>T (p.Lys1569Ter) c.4702A>T (p.Lys1568Ter) c.4582A>T (p.Lys1528Ter) c.4678A>T (p.Lys1560Ter) c.4624A>T (p.Lys1542Ter) c.4585A>T (p.Lys1529Ter) c.4534A>T (p.Lys1512Ter) c.1666A>T (p.Lys556Ter) | |
18 | g.33744551A>C | CA402191746 | ASXL3 | c.4706A>C (p.Lys1569Thr) c.4703A>C (p.Lys1568Thr) c.4583A>C (p.Lys1528Thr) c.4679A>C (p.Lys1560Thr) c.4625A>C (p.Lys1542Thr) c.4586A>C (p.Lys1529Thr) c.4535A>C (p.Lys1512Thr) c.1667A>C (p.Lys556Thr) | |
18 | g.33744551A>G | CA402191748 | ASXL3 | c.4706A>G (p.Lys1569Arg) c.4703A>G (p.Lys1568Arg) c.4583A>G (p.Lys1528Arg) c.4679A>G (p.Lys1560Arg) c.4625A>G (p.Lys1542Arg) c.4586A>G (p.Lys1529Arg) c.4535A>G (p.Lys1512Arg) c.1667A>G (p.Lys556Arg) | |
18 | g.33744551A>T | CA402191747 | ASXL3 | c.4706A>T (p.Lys1569Ile) c.4703A>T (p.Lys1568Ile) c.4583A>T (p.Lys1528Ile) c.4679A>T (p.Lys1560Ile) c.4625A>T (p.Lys1542Ile) c.4586A>T (p.Lys1529Ile) c.4535A>T (p.Lys1512Ile) c.1667A>T (p.Lys556Ile) | |
18 | g.33744552A>C | CA402191749 | ASXL3 | c.4707A>C (p.Lys1569Asn) c.4704A>C (p.Lys1568Asn) c.4584A>C (p.Lys1528Asn) c.4680A>C (p.Lys1560Asn) c.4626A>C (p.Lys1542Asn) c.4587A>C (p.Lys1529Asn) c.4536A>C (p.Lys1512Asn) c.1668A>C (p.Lys556Asn) | |
18 | g.33744552A>G | CA503770709 | ASXL3 | c.4707A>G (p.Lys1569=) c.4704A>G (p.Lys1568=) c.4584A>G (p.Lys1528=) c.4680A>G (p.Lys1560=) c.4626A>G (p.Lys1542=) c.4587A>G (p.Lys1529=) c.4536A>G (p.Lys1512=) c.1668A>G (p.Lys556=) | gnomAD v4 |
18 | g.33744552A>T | CA402191750 | ASXL3 | c.4707A>T (p.Lys1569Asn) c.4704A>T (p.Lys1568Asn) c.4584A>T (p.Lys1528Asn) c.4680A>T (p.Lys1560Asn) c.4626A>T (p.Lys1542Asn) c.4587A>T (p.Lys1529Asn) c.4536A>T (p.Lys1512Asn) c.1668A>T (p.Lys556Asn) | |
18 | g.33744553T>A | CA402191751 | ASXL3 | c.4708T>A (p.Leu1570Ile) c.4705T>A (p.Leu1569Ile) c.4585T>A (p.Leu1529Ile) c.4681T>A (p.Leu1561Ile) c.4627T>A (p.Leu1543Ile) c.4588T>A (p.Leu1530Ile) c.4537T>A (p.Leu1513Ile) c.1669T>A (p.Leu557Ile) | dbSNP |
18 | g.33744553T>C | CA503770713 | ASXL3 | c.4708T>C (p.Leu1570=) c.4705T>C (p.Leu1569=) c.4585T>C (p.Leu1529=) c.4681T>C (p.Leu1561=) c.4627T>C (p.Leu1543=) c.4588T>C (p.Leu1530=) c.4537T>C (p.Leu1513=) c.1669T>C (p.Leu557=) | gnomAD v4 |
18 | g.33744553T>G | CA402191752 | ASXL3 | c.4708T>G (p.Leu1570Val) c.4705T>G (p.Leu1569Val) c.4585T>G (p.Leu1529Val) c.4681T>G (p.Leu1561Val) c.4627T>G (p.Leu1543Val) c.4588T>G (p.Leu1530Val) c.4537T>G (p.Leu1513Val) c.1669T>G (p.Leu557Val) | |
18 | g.33744553T= | CA2294858188 | ASXL3 | c.4708T= (p.Leu1570=) c.4705T= (p.Leu1569=) c.4585T= (p.Leu1529=) c.4681T= (p.Leu1561=) c.4627T= (p.Leu1543=) c.4588T= (p.Leu1530=) c.4537T= (p.Leu1513=) c.1669T= (p.Leu557=) | |
18 | g.33744554T>A | CA402191753 | ASXL3 | c.4709T>A (p.Leu1570Ter) c.4706T>A (p.Leu1569Ter) c.4586T>A (p.Leu1529Ter) c.4682T>A (p.Leu1561Ter) c.4628T>A (p.Leu1543Ter) c.4589T>A (p.Leu1530Ter) c.4538T>A (p.Leu1513Ter) c.1670T>A (p.Leu557Ter) | |
18 | g.33744554T>C | CA402191754 | ASXL3 | c.4709T>C (p.Leu1570Ser) c.4706T>C (p.Leu1569Ser) c.4586T>C (p.Leu1529Ser) c.4682T>C (p.Leu1561Ser) c.4628T>C (p.Leu1543Ser) c.4589T>C (p.Leu1530Ser) c.4538T>C (p.Leu1513Ser) c.1670T>C (p.Leu557Ser) | |
18 | g.33744554T>G | CA402191755 | ASXL3 | c.4709T>G (p.Leu1570Ter) c.4706T>G (p.Leu1569Ter) c.4586T>G (p.Leu1529Ter) c.4682T>G (p.Leu1561Ter) c.4628T>G (p.Leu1543Ter) c.4589T>G (p.Leu1530Ter) c.4538T>G (p.Leu1513Ter) c.1670T>G (p.Leu557Ter) | |
18 | g.33744555A>C | CA402191756 | ASXL3 | c.4710A>C (p.Leu1570Phe) c.4707A>C (p.Leu1569Phe) c.4587A>C (p.Leu1529Phe) c.4683A>C (p.Leu1561Phe) c.4629A>C (p.Leu1543Phe) c.4590A>C (p.Leu1530Phe) c.4539A>C (p.Leu1513Phe) c.1671A>C (p.Leu557Phe) | |
18 | g.33744555A>G | CA503770718 | ASXL3 | c.4710A>G (p.Leu1570=) c.4707A>G (p.Leu1569=) c.4587A>G (p.Leu1529=) c.4683A>G (p.Leu1561=) c.4629A>G (p.Leu1543=) c.4590A>G (p.Leu1530=) c.4539A>G (p.Leu1513=) c.1671A>G (p.Leu557=) | gnomAD v4 |
18 | g.33744555A>T | CA402191757 | ASXL3 | c.4710A>T (p.Leu1570Phe) c.4707A>T (p.Leu1569Phe) c.4587A>T (p.Leu1529Phe) c.4683A>T (p.Leu1561Phe) c.4629A>T (p.Leu1543Phe) c.4590A>T (p.Leu1530Phe) c.4539A>T (p.Leu1513Phe) c.1671A>T (p.Leu557Phe) | |
18 | g.33744556A>C | CA402191758 | ASXL3 | c.4711A>C (p.Asn1571His) c.4708A>C (p.Asn1570His) c.4588A>C (p.Asn1530His) c.4684A>C (p.Asn1562His) c.4630A>C (p.Asn1544His) c.4591A>C (p.Asn1531His) c.4540A>C (p.Asn1514His) c.1672A>C (p.Asn558His) | |
18 | g.33744556A>G | CA402191759 | ASXL3 | c.4711A>G (p.Asn1571Asp) c.4708A>G (p.Asn1570Asp) c.4588A>G (p.Asn1530Asp) c.4684A>G (p.Asn1562Asp) c.4630A>G (p.Asn1544Asp) c.4591A>G (p.Asn1531Asp) c.4540A>G (p.Asn1514Asp) c.1672A>G (p.Asn558Asp) | |
18 | g.33744556A>T | CA402191760 | ASXL3 | c.4711A>T (p.Asn1571Tyr) c.4708A>T (p.Asn1570Tyr) c.4588A>T (p.Asn1530Tyr) c.4684A>T (p.Asn1562Tyr) c.4630A>T (p.Asn1544Tyr) c.4591A>T (p.Asn1531Tyr) c.4540A>T (p.Asn1514Tyr) c.1672A>T (p.Asn558Tyr) | |
18 | g.33744557A>C | CA402191761 | ASXL3 | c.4712A>C (p.Asn1571Thr) c.4709A>C (p.Asn1570Thr) c.4589A>C (p.Asn1530Thr) c.4685A>C (p.Asn1562Thr) c.4631A>C (p.Asn1544Thr) c.4592A>C (p.Asn1531Thr) c.4541A>C (p.Asn1514Thr) c.1673A>C (p.Asn558Thr) | |
18 | g.33744557A>G | CA402191762 | ASXL3 | c.4712A>G (p.Asn1571Ser) c.4709A>G (p.Asn1570Ser) c.4589A>G (p.Asn1530Ser) c.4685A>G (p.Asn1562Ser) c.4631A>G (p.Asn1544Ser) c.4592A>G (p.Asn1531Ser) c.4541A>G (p.Asn1514Ser) c.1673A>G (p.Asn558Ser) | |
18 | g.33744557A>T | CA402191763 | ASXL3 | c.4712A>T (p.Asn1571Ile) c.4709A>T (p.Asn1570Ile) c.4589A>T (p.Asn1530Ile) c.4685A>T (p.Asn1562Ile) c.4631A>T (p.Asn1544Ile) c.4592A>T (p.Asn1531Ile) c.4541A>T (p.Asn1514Ile) c.1673A>T (p.Asn558Ile) | |
18 | g.33744558T>A | CA402191764 | ASXL3 | c.4713T>A (p.Asn1571Lys) c.4710T>A (p.Asn1570Lys) c.4590T>A (p.Asn1530Lys) c.4686T>A (p.Asn1562Lys) c.4632T>A (p.Asn1544Lys) c.4593T>A (p.Asn1531Lys) c.4542T>A (p.Asn1514Lys) c.1674T>A (p.Asn558Lys) | |
18 | g.33744558T>C | CA503770725 | ASXL3 | c.4713T>C (p.Asn1571=) c.4710T>C (p.Asn1570=) c.4590T>C (p.Asn1530=) c.4686T>C (p.Asn1562=) c.4632T>C (p.Asn1544=) c.4593T>C (p.Asn1531=) c.4542T>C (p.Asn1514=) c.1674T>C (p.Asn558=) | dbSNP gnomAD v4 |
18 | g.33744558T>G | CA402191765 | ASXL3 | c.4713T>G (p.Asn1571Lys) c.4710T>G (p.Asn1570Lys) c.4590T>G (p.Asn1530Lys) c.4686T>G (p.Asn1562Lys) c.4632T>G (p.Asn1544Lys) c.4593T>G (p.Asn1531Lys) c.4542T>G (p.Asn1514Lys) c.1674T>G (p.Asn558Lys) | |
18 | g.33744558T= | CA2294858189 | ASXL3 | c.4713T= (p.Asn1571=) c.4710T= (p.Asn1570=) c.4590T= (p.Asn1530=) c.4686T= (p.Asn1562=) c.4632T= (p.Asn1544=) c.4593T= (p.Asn1531=) c.4542T= (p.Asn1514=) c.1674T= (p.Asn558=) | |
18 | g.33744559G>A | CA402191766 | ASXL3 | c.4714G>A (p.Glu1572Lys) c.4711G>A (p.Glu1571Lys) c.4591G>A (p.Glu1531Lys) c.4687G>A (p.Glu1563Lys) c.4633G>A (p.Glu1545Lys) c.4594G>A (p.Glu1532Lys) c.4543G>A (p.Glu1515Lys) c.1675G>A (p.Glu559Lys) | gnomAD v4 |
18 | g.33744559G>C | CA402191767 | ASXL3 | c.4714G>C (p.Glu1572Gln) c.4711G>C (p.Glu1571Gln) c.4591G>C (p.Glu1531Gln) c.4687G>C (p.Glu1563Gln) c.4633G>C (p.Glu1545Gln) c.4594G>C (p.Glu1532Gln) c.4543G>C (p.Glu1515Gln) c.1675G>C (p.Glu559Gln) | |
18 | g.33744559G>T | CA402191768 | ASXL3 | c.4714G>T (p.Glu1572Ter) c.4711G>T (p.Glu1571Ter) c.4591G>T (p.Glu1531Ter) c.4687G>T (p.Glu1563Ter) c.4633G>T (p.Glu1545Ter) c.4594G>T (p.Glu1532Ter) c.4543G>T (p.Glu1515Ter) c.1675G>T (p.Glu559Ter) | |
18 | g.33744560A>C | CA402191769 | ASXL3 | c.4715A>C (p.Glu1572Ala) c.4712A>C (p.Glu1571Ala) c.4592A>C (p.Glu1531Ala) c.4688A>C (p.Glu1563Ala) c.4634A>C (p.Glu1545Ala) c.4595A>C (p.Glu1532Ala) c.4544A>C (p.Glu1515Ala) c.1676A>C (p.Glu559Ala) | COSMIC |
18 | g.33744560A>G | CA402191770 | ASXL3 | c.4715A>G (p.Glu1572Gly) c.4712A>G (p.Glu1571Gly) c.4592A>G (p.Glu1531Gly) c.4688A>G (p.Glu1563Gly) c.4634A>G (p.Glu1545Gly) c.4595A>G (p.Glu1532Gly) c.4544A>G (p.Glu1515Gly) c.1676A>G (p.Glu559Gly) | |
18 | g.33744560A>T | CA402191771 | ASXL3 | c.4715A>T (p.Glu1572Val) c.4712A>T (p.Glu1571Val) c.4592A>T (p.Glu1531Val) c.4688A>T (p.Glu1563Val) c.4634A>T (p.Glu1545Val) c.4595A>T (p.Glu1532Val) c.4544A>T (p.Glu1515Val) c.1676A>T (p.Glu559Val) | |
18 | g.33744561G>A | CA503770733 | ASXL3 | c.4716G>A (p.Glu1572=) c.4713G>A (p.Glu1571=) c.4593G>A (p.Glu1531=) c.4689G>A (p.Glu1563=) c.4635G>A (p.Glu1545=) c.4596G>A (p.Glu1532=) c.4545G>A (p.Glu1515=) c.1677G>A (p.Glu559=) | |
18 | g.33744561G>C | CA402191772 | ASXL3 | c.4716G>C (p.Glu1572Asp) c.4713G>C (p.Glu1571Asp) c.4593G>C (p.Glu1531Asp) c.4689G>C (p.Glu1563Asp) c.4635G>C (p.Glu1545Asp) c.4596G>C (p.Glu1532Asp) c.4545G>C (p.Glu1515Asp) c.1677G>C (p.Glu559Asp) | gnomAD v4 |
18 | g.33744561G>T | CA402191773 | ASXL3 | c.4716G>T (p.Glu1572Asp) c.4713G>T (p.Glu1571Asp) c.4593G>T (p.Glu1531Asp) c.4689G>T (p.Glu1563Asp) c.4635G>T (p.Glu1545Asp) c.4596G>T (p.Glu1532Asp) c.4545G>T (p.Glu1515Asp) c.1677G>T (p.Glu559Asp) | |
18 | g.33744562C>A | CA402191774 | ASXL3 | c.4717C>A (p.Pro1573Thr) c.4714C>A (p.Pro1572Thr) c.4594C>A (p.Pro1532Thr) c.4690C>A (p.Pro1564Thr) c.4636C>A (p.Pro1546Thr) c.4597C>A (p.Pro1533Thr) c.4546C>A (p.Pro1516Thr) c.1678C>A (p.Pro560Thr) | |
18 | g.33744562C>G | CA402191775 | ASXL3 | c.4717C>G (p.Pro1573Ala) c.4714C>G (p.Pro1572Ala) c.4594C>G (p.Pro1532Ala) c.4690C>G (p.Pro1564Ala) c.4636C>G (p.Pro1546Ala) c.4597C>G (p.Pro1533Ala) c.4546C>G (p.Pro1516Ala) c.1678C>G (p.Pro560Ala) | gnomAD v4 |
18 | g.33744562C>T | CA402191776 | ASXL3 | c.4717C>T (p.Pro1573Ser) c.4714C>T (p.Pro1572Ser) c.4594C>T (p.Pro1532Ser) c.4690C>T (p.Pro1564Ser) c.4636C>T (p.Pro1546Ser) c.4597C>T (p.Pro1533Ser) c.4546C>T (p.Pro1516Ser) c.1678C>T (p.Pro560Ser) | gnomAD v4 |
18 | g.33744563C>A | CA402191778 | ASXL3 | c.4718C>A (p.Pro1573Gln) c.4715C>A (p.Pro1572Gln) c.4595C>A (p.Pro1532Gln) c.4691C>A (p.Pro1564Gln) c.4637C>A (p.Pro1546Gln) c.4598C>A (p.Pro1533Gln) c.4547C>A (p.Pro1516Gln) c.1679C>A (p.Pro560Gln) | gnomAD v4 |
18 | g.33744563C= | CA2294858190 | ASXL3 | c.4718C= (p.Pro1573=) c.4715C= (p.Pro1572=) c.4595C= (p.Pro1532=) c.4691C= (p.Pro1564=) c.4637C= (p.Pro1546=) c.4598C= (p.Pro1533=) c.4547C= (p.Pro1516=) c.1679C= (p.Pro560=) | |
18 | g.33744563C>G | CA402191777 | ASXL3 | c.4718C>G (p.Pro1573Arg) c.4715C>G (p.Pro1572Arg) c.4595C>G (p.Pro1532Arg) c.4691C>G (p.Pro1564Arg) c.4637C>G (p.Pro1546Arg) c.4598C>G (p.Pro1533Arg) c.4547C>G (p.Pro1516Arg) c.1679C>G (p.Pro560Arg) | dbSNP |
18 | g.33744563C>T | CA8934314 | ASXL3 | c.4718C>T (p.Pro1573Leu) c.4715C>T (p.Pro1572Leu) c.4595C>T (p.Pro1532Leu) c.4691C>T (p.Pro1564Leu) c.4637C>T (p.Pro1546Leu) c.4598C>T (p.Pro1533Leu) c.4547C>T (p.Pro1516Leu) c.1679C>T (p.Pro560Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744564G>A | CA8934315 | ASXL3 | c.4719G>A (p.Pro1573=) c.4716G>A (p.Pro1572=) c.4596G>A (p.Pro1532=) c.4692G>A (p.Pro1564=) c.4638G>A (p.Pro1546=) c.4599G>A (p.Pro1533=) c.4548G>A (p.Pro1516=) c.1680G>A (p.Pro560=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744564G>C | CA503770740 | ASXL3 | c.4719G>C (p.Pro1573=) c.4716G>C (p.Pro1572=) c.4596G>C (p.Pro1532=) c.4692G>C (p.Pro1564=) c.4638G>C (p.Pro1546=) c.4599G>C (p.Pro1533=) c.4548G>C (p.Pro1516=) c.1680G>C (p.Pro560=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.33744564G= | CA2294858191 | ASXL3 | c.4719G= (p.Pro1573=) c.4716G= (p.Pro1572=) c.4596G= (p.Pro1532=) c.4692G= (p.Pro1564=) c.4638G= (p.Pro1546=) c.4599G= (p.Pro1533=) c.4548G= (p.Pro1516=) c.1680G= (p.Pro560=) | |
18 | g.33744564G>T | CA503770742 | ASXL3 | c.4719G>T (p.Pro1573=) c.4716G>T (p.Pro1572=) c.4596G>T (p.Pro1532=) c.4692G>T (p.Pro1564=) c.4638G>T (p.Pro1546=) c.4599G>T (p.Pro1533=) c.4548G>T (p.Pro1516=) c.1680G>T (p.Pro560=) | gnomAD v4 |
18 | g.33744565A= | CA2294858192 | ASXL3 | c.4720A= (p.Thr1574=) c.4717A= (p.Thr1573=) c.4597A= (p.Thr1533=) c.4693A= (p.Thr1565=) c.4639A= (p.Thr1547=) c.4600A= (p.Thr1534=) c.4549A= (p.Thr1517=) c.1681A= (p.Thr561=) | |
18 | g.33744565A>C | CA402191779 | ASXL3 | c.4720A>C (p.Thr1574Pro) c.4717A>C (p.Thr1573Pro) c.4597A>C (p.Thr1533Pro) c.4693A>C (p.Thr1565Pro) c.4639A>C (p.Thr1547Pro) c.4600A>C (p.Thr1534Pro) c.4549A>C (p.Thr1517Pro) c.1681A>C (p.Thr561Pro) | |
18 | g.33744565A>G | CA8934316 | ASXL3 | c.4720A>G (p.Thr1574Ala) c.4717A>G (p.Thr1573Ala) c.4597A>G (p.Thr1533Ala) c.4693A>G (p.Thr1565Ala) c.4639A>G (p.Thr1547Ala) c.4600A>G (p.Thr1534Ala) c.4549A>G (p.Thr1517Ala) c.1681A>G (p.Thr561Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744565A>T | CA402191780 | ASXL3 | c.4720A>T (p.Thr1574Ser) c.4717A>T (p.Thr1573Ser) c.4597A>T (p.Thr1533Ser) c.4693A>T (p.Thr1565Ser) c.4639A>T (p.Thr1547Ser) c.4600A>T (p.Thr1534Ser) c.4549A>T (p.Thr1517Ser) c.1681A>T (p.Thr561Ser) | |
18 | g.33744566C>A | CA402191781 | ASXL3 | c.4721C>A (p.Thr1574Asn) c.4718C>A (p.Thr1573Asn) c.4598C>A (p.Thr1533Asn) c.4694C>A (p.Thr1565Asn) c.4640C>A (p.Thr1547Asn) c.4601C>A (p.Thr1534Asn) c.4550C>A (p.Thr1517Asn) c.1682C>A (p.Thr561Asn) | |
18 | g.33744566C= | CA2294858193 | ASXL3 | c.4721C= (p.Thr1574=) c.4718C= (p.Thr1573=) c.4598C= (p.Thr1533=) c.4694C= (p.Thr1565=) c.4640C= (p.Thr1547=) c.4601C= (p.Thr1534=) c.4550C= (p.Thr1517=) c.1682C= (p.Thr561=) | |
18 | g.33744566C>G | CA402191782 | ASXL3 | c.4721C>G (p.Thr1574Ser) c.4718C>G (p.Thr1573Ser) c.4598C>G (p.Thr1533Ser) c.4694C>G (p.Thr1565Ser) c.4640C>G (p.Thr1547Ser) c.4601C>G (p.Thr1534Ser) c.4550C>G (p.Thr1517Ser) c.1682C>G (p.Thr561Ser) | dbSNP |
18 | g.33744566C>T | CA8934317 | ASXL3 | c.4721C>T (p.Thr1574Ile) c.4718C>T (p.Thr1573Ile) c.4598C>T (p.Thr1533Ile) c.4694C>T (p.Thr1565Ile) c.4640C>T (p.Thr1547Ile) c.4601C>T (p.Thr1534Ile) c.4550C>T (p.Thr1517Ile) c.1682C>T (p.Thr561Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.33744567T>A | CA503770750 | ASXL3 | c.4722T>A (p.Thr1574=) c.4719T>A (p.Thr1573=) c.4599T>A (p.Thr1533=) c.4695T>A (p.Thr1565=) c.4641T>A (p.Thr1547=) c.4602T>A (p.Thr1534=) c.4551T>A (p.Thr1517=) c.1683T>A (p.Thr561=) | |
18 | g.33744567T>C | CA503770751 | ASXL3 | c.4722T>C (p.Thr1574=) c.4719T>C (p.Thr1573=) c.4599T>C (p.Thr1533=) c.4695T>C (p.Thr1565=) c.4641T>C (p.Thr1547=) c.4602T>C (p.Thr1534=) c.4551T>C (p.Thr1517=) c.1683T>C (p.Thr561=) | |
18 | g.33744567T>G | CA503770752 | ASXL3 | c.4722T>G (p.Thr1574=) c.4719T>G (p.Thr1573=) c.4599T>G (p.Thr1533=) c.4695T>G (p.Thr1565=) c.4641T>G (p.Thr1547=) c.4602T>G (p.Thr1534=) c.4551T>G (p.Thr1517=) c.1683T>G (p.Thr561=) | |
18 | g.33744568G>A | CA402191783 | ASXL3 | c.4723G>A (p.Ala1575Thr) c.4720G>A (p.Ala1574Thr) c.4600G>A (p.Ala1534Thr) c.4696G>A (p.Ala1566Thr) c.4642G>A (p.Ala1548Thr) c.4603G>A (p.Ala1535Thr) c.4552G>A (p.Ala1518Thr) c.1684G>A (p.Ala562Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744568G>C | CA402191784 | ASXL3 | c.4723G>C (p.Ala1575Pro) c.4720G>C (p.Ala1574Pro) c.4600G>C (p.Ala1534Pro) c.4696G>C (p.Ala1566Pro) c.4642G>C (p.Ala1548Pro) c.4603G>C (p.Ala1535Pro) c.4552G>C (p.Ala1518Pro) c.1684G>C (p.Ala562Pro) | gnomAD v4 |
18 | g.33744568G= | CA2294858194 | ASXL3 | c.4723G= (p.Ala1575=) c.4720G= (p.Ala1574=) c.4600G= (p.Ala1534=) c.4696G= (p.Ala1566=) c.4642G= (p.Ala1548=) c.4603G= (p.Ala1535=) c.4552G= (p.Ala1518=) c.1684G= (p.Ala562=) | |
18 | g.33744568G>T | CA402191785 | ASXL3 | c.4723G>T (p.Ala1575Ser) c.4720G>T (p.Ala1574Ser) c.4600G>T (p.Ala1534Ser) c.4696G>T (p.Ala1566Ser) c.4642G>T (p.Ala1548Ser) c.4603G>T (p.Ala1535Ser) c.4552G>T (p.Ala1518Ser) c.1684G>T (p.Ala562Ser) | |
18 | g.33744569C>A | CA402191786 | ASXL3 | c.4724C>A (p.Ala1575Asp) c.4721C>A (p.Ala1574Asp) c.4601C>A (p.Ala1534Asp) c.4697C>A (p.Ala1566Asp) c.4643C>A (p.Ala1548Asp) c.4604C>A (p.Ala1535Asp) c.4553C>A (p.Ala1518Asp) c.1685C>A (p.Ala562Asp) | gnomAD v4 |
18 | g.33744569C= | CA2294858195 | ASXL3 | c.4724C= (p.Ala1575=) c.4721C= (p.Ala1574=) c.4601C= (p.Ala1534=) c.4697C= (p.Ala1566=) c.4643C= (p.Ala1548=) c.4604C= (p.Ala1535=) c.4553C= (p.Ala1518=) c.1685C= (p.Ala562=) | |
18 | g.33744569C>G | CA402191787 | ASXL3 | c.4724C>G (p.Ala1575Gly) c.4721C>G (p.Ala1574Gly) c.4601C>G (p.Ala1534Gly) c.4697C>G (p.Ala1566Gly) c.4643C>G (p.Ala1548Gly) c.4604C>G (p.Ala1535Gly) c.4553C>G (p.Ala1518Gly) c.1685C>G (p.Ala562Gly) | |
18 | g.33744569C>T | CA8934318 | ASXL3 | c.4724C>T (p.Ala1575Val) c.4721C>T (p.Ala1574Val) c.4601C>T (p.Ala1534Val) c.4697C>T (p.Ala1566Val) c.4643C>T (p.Ala1548Val) c.4604C>T (p.Ala1535Val) c.4553C>T (p.Ala1518Val) c.1685C>T (p.Ala562Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744570T>A | CA503770760 | ASXL3 | c.4725T>A (p.Ala1575=) c.4722T>A (p.Ala1574=) c.4602T>A (p.Ala1534=) c.4698T>A (p.Ala1566=) c.4644T>A (p.Ala1548=) c.4605T>A (p.Ala1535=) c.4554T>A (p.Ala1518=) c.1686T>A (p.Ala562=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33744570T>C | CA503770759 | ASXL3 | c.4725T>C (p.Ala1575=) c.4722T>C (p.Ala1574=) c.4602T>C (p.Ala1534=) c.4698T>C (p.Ala1566=) c.4644T>C (p.Ala1548=) c.4605T>C (p.Ala1535=) c.4554T>C (p.Ala1518=) c.1686T>C (p.Ala562=) | |
18 | g.33744570T>G | CA503770763 | ASXL3 | c.4725T>G (p.Ala1575=) c.4722T>G (p.Ala1574=) c.4602T>G (p.Ala1534=) c.4698T>G (p.Ala1566=) c.4644T>G (p.Ala1548=) c.4605T>G (p.Ala1535=) c.4554T>G (p.Ala1518=) c.1686T>G (p.Ala562=) | gnomAD v4 |
18 | g.33744570T= | CA2294858196 | ASXL3 | c.4725T= (p.Ala1575=) c.4722T= (p.Ala1574=) c.4602T= (p.Ala1534=) c.4698T= (p.Ala1566=) c.4644T= (p.Ala1548=) c.4605T= (p.Ala1535=) c.4554T= (p.Ala1518=) c.1686T= (p.Ala562=) | |
18 | g.33744571C>A | CA402191790 | ASXL3 | c.4726C>A (p.Pro1576Thr) c.4723C>A (p.Pro1575Thr) c.4603C>A (p.Pro1535Thr) c.4699C>A (p.Pro1567Thr) c.4645C>A (p.Pro1549Thr) c.4606C>A (p.Pro1536Thr) c.4555C>A (p.Pro1519Thr) c.1687C>A (p.Pro563Thr) | |
18 | g.33744571C>G | CA402191788 | ASXL3 | c.4726C>G (p.Pro1576Ala) c.4723C>G (p.Pro1575Ala) c.4603C>G (p.Pro1535Ala) c.4699C>G (p.Pro1567Ala) c.4645C>G (p.Pro1549Ala) c.4606C>G (p.Pro1536Ala) c.4555C>G (p.Pro1519Ala) c.1687C>G (p.Pro563Ala) | |
18 | g.33744571C>T | CA402191789 | ASXL3 | c.4726C>T (p.Pro1576Ser) c.4723C>T (p.Pro1575Ser) c.4603C>T (p.Pro1535Ser) c.4699C>T (p.Pro1567Ser) c.4645C>T (p.Pro1549Ser) c.4606C>T (p.Pro1536Ser) c.4555C>T (p.Pro1519Ser) c.1687C>T (p.Pro563Ser) | |
18 | g.33744572C>A | CA402191791 | ASXL3 | c.4727C>A (p.Pro1576His) c.4724C>A (p.Pro1575His) c.4604C>A (p.Pro1535His) c.4700C>A (p.Pro1567His) c.4646C>A (p.Pro1549His) c.4607C>A (p.Pro1536His) c.4556C>A (p.Pro1519His) c.1688C>A (p.Pro563His) | |
18 | g.33744572C= | CA2294858197 | ASXL3 | c.4727C= (p.Pro1576=) c.4724C= (p.Pro1575=) c.4604C= (p.Pro1535=) c.4700C= (p.Pro1567=) c.4646C= (p.Pro1549=) c.4607C= (p.Pro1536=) c.4556C= (p.Pro1519=) c.1688C= (p.Pro563=) | |
18 | g.33744572C>G | CA297793765 | ASXL3 | c.4727C>G (p.Pro1576Arg) c.4724C>G (p.Pro1575Arg) c.4604C>G (p.Pro1535Arg) c.4700C>G (p.Pro1567Arg) c.4646C>G (p.Pro1549Arg) c.4607C>G (p.Pro1536Arg) c.4556C>G (p.Pro1519Arg) c.1688C>G (p.Pro563Arg) | ClinVar dbSNP gnomAD v4 |
18 | g.33744572C>T | CA402191792 | ASXL3 | c.4727C>T (p.Pro1576Leu) c.4724C>T (p.Pro1575Leu) c.4604C>T (p.Pro1535Leu) c.4700C>T (p.Pro1567Leu) c.4646C>T (p.Pro1549Leu) c.4607C>T (p.Pro1536Leu) c.4556C>T (p.Pro1519Leu) c.1688C>T (p.Pro563Leu) | |
18 | g.33744573C>A | CA297793768 | ASXL3 | c.4728C>A (p.Pro1576=) c.4725C>A (p.Pro1575=) c.4605C>A (p.Pro1535=) c.4701C>A (p.Pro1567=) c.4647C>A (p.Pro1549=) c.4608C>A (p.Pro1536=) c.4557C>A (p.Pro1519=) c.1689C>A (p.Pro563=) | dbSNP |
18 | g.33744573C= | CA2294858198 | ASXL3 | c.4728C= (p.Pro1576=) c.4725C= (p.Pro1575=) c.4605C= (p.Pro1535=) c.4701C= (p.Pro1567=) c.4647C= (p.Pro1549=) c.4608C= (p.Pro1536=) c.4557C= (p.Pro1519=) c.1689C= (p.Pro563=) | |
18 | g.33744573C>G | CA503770769 | ASXL3 | c.4728C>G (p.Pro1576=) c.4725C>G (p.Pro1575=) c.4605C>G (p.Pro1535=) c.4701C>G (p.Pro1567=) c.4647C>G (p.Pro1549=) c.4608C>G (p.Pro1536=) c.4557C>G (p.Pro1519=) c.1689C>G (p.Pro563=) | |
18 | g.33744573C>T | CA503770770 | ASXL3 | c.4728C>T (p.Pro1576=) c.4725C>T (p.Pro1575=) c.4605C>T (p.Pro1535=) c.4701C>T (p.Pro1567=) c.4647C>T (p.Pro1549=) c.4608C>T (p.Pro1536=) c.4557C>T (p.Pro1519=) c.1689C>T (p.Pro563=) | dbSNP gnomAD v4 |
18 | g.33744574A>C | CA402191793 | ASXL3 | c.4729A>C (p.Ser1577Arg) c.4726A>C (p.Ser1576Arg) c.4606A>C (p.Ser1536Arg) c.4702A>C (p.Ser1568Arg) c.4648A>C (p.Ser1550Arg) c.4609A>C (p.Ser1537Arg) c.4558A>C (p.Ser1520Arg) c.1690A>C (p.Ser564Arg) | gnomAD v4 |
18 | g.33744574A>G | CA402191794 | ASXL3 | c.4729A>G (p.Ser1577Gly) c.4726A>G (p.Ser1576Gly) c.4606A>G (p.Ser1536Gly) c.4702A>G (p.Ser1568Gly) c.4648A>G (p.Ser1550Gly) c.4609A>G (p.Ser1537Gly) c.4558A>G (p.Ser1520Gly) c.1690A>G (p.Ser564Gly) | |
18 | g.33744574A>T | CA402191795 | ASXL3 | c.4729A>T (p.Ser1577Cys) c.4726A>T (p.Ser1576Cys) c.4606A>T (p.Ser1536Cys) c.4702A>T (p.Ser1568Cys) c.4648A>T (p.Ser1550Cys) c.4609A>T (p.Ser1537Cys) c.4558A>T (p.Ser1520Cys) c.1690A>T (p.Ser564Cys) | |
18 | g.33744575G>A | CA402191796 | ASXL3 | c.4730G>A (p.Ser1577Asn) c.4727G>A (p.Ser1576Asn) c.4607G>A (p.Ser1536Asn) c.4703G>A (p.Ser1568Asn) c.4649G>A (p.Ser1550Asn) c.4610G>A (p.Ser1537Asn) c.4559G>A (p.Ser1520Asn) c.1691G>A (p.Ser564Asn) | gnomAD v4 |
18 | g.33744575G>C | CA402191797 | ASXL3 | c.4730G>C (p.Ser1577Thr) c.4727G>C (p.Ser1576Thr) c.4607G>C (p.Ser1536Thr) c.4703G>C (p.Ser1568Thr) c.4649G>C (p.Ser1550Thr) c.4610G>C (p.Ser1537Thr) c.4559G>C (p.Ser1520Thr) c.1691G>C (p.Ser564Thr) | |
18 | g.33744575G>T | CA402191798 | ASXL3 | c.4730G>T (p.Ser1577Ile) c.4727G>T (p.Ser1576Ile) c.4607G>T (p.Ser1536Ile) c.4703G>T (p.Ser1568Ile) c.4649G>T (p.Ser1550Ile) c.4610G>T (p.Ser1537Ile) c.4559G>T (p.Ser1520Ile) c.1691G>T (p.Ser564Ile) | |
18 | g.33744576T>A | CA402191799 | ASXL3 | c.4731T>A (p.Ser1577Arg) c.4728T>A (p.Ser1576Arg) c.4608T>A (p.Ser1536Arg) c.4704T>A (p.Ser1568Arg) c.4650T>A (p.Ser1550Arg) c.4611T>A (p.Ser1537Arg) c.4560T>A (p.Ser1520Arg) c.1692T>A (p.Ser564Arg) | |
18 | g.33744576T>C | CA503770778 | ASXL3 | c.4731T>C (p.Ser1577=) c.4728T>C (p.Ser1576=) c.4608T>C (p.Ser1536=) c.4704T>C (p.Ser1568=) c.4650T>C (p.Ser1550=) c.4611T>C (p.Ser1537=) c.4560T>C (p.Ser1520=) c.1692T>C (p.Ser564=) | |
18 | g.33744576T>G | CA402191800 | ASXL3 | c.4731T>G (p.Ser1577Arg) c.4728T>G (p.Ser1576Arg) c.4608T>G (p.Ser1536Arg) c.4704T>G (p.Ser1568Arg) c.4650T>G (p.Ser1550Arg) c.4611T>G (p.Ser1537Arg) c.4560T>G (p.Ser1520Arg) c.1692T>G (p.Ser564Arg) | |
18 | g.33744577C>A | CA402191802 | ASXL3 | c.4732C>A (p.His1578Asn) c.4729C>A (p.His1577Asn) c.4609C>A (p.His1537Asn) c.4705C>A (p.His1569Asn) c.4651C>A (p.His1551Asn) c.4612C>A (p.His1538Asn) c.4561C>A (p.His1521Asn) c.1693C>A (p.His565Asn) | gnomAD v4 |
18 | g.33744577C= | CA2294858199 | ASXL3 | c.4732C= (p.His1578=) c.4729C= (p.His1577=) c.4609C= (p.His1537=) c.4705C= (p.His1569=) c.4651C= (p.His1551=) c.4612C= (p.His1538=) c.4561C= (p.His1521=) c.1693C= (p.His565=) | |
18 | g.33744577C>G | CA402191801 | ASXL3 | c.4732C>G (p.His1578Asp) c.4729C>G (p.His1577Asp) c.4609C>G (p.His1537Asp) c.4705C>G (p.His1569Asp) c.4651C>G (p.His1551Asp) c.4612C>G (p.His1538Asp) c.4561C>G (p.His1521Asp) c.1693C>G (p.His565Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.33744577C>T | CA8934319 | ASXL3 | c.4732C>T (p.His1578Tyr) c.4729C>T (p.His1577Tyr) c.4609C>T (p.His1537Tyr) c.4705C>T (p.His1569Tyr) c.4651C>T (p.His1551Tyr) c.4612C>T (p.His1538Tyr) c.4561C>T (p.His1521Tyr) c.1693C>T (p.His565Tyr) | dbSNP ExAC gnomAD v3 gnomAD v4 |
18 | g.33744578A= | CA2294858200 | ASXL3 | c.4733A= (p.His1578=) c.4730A= (p.His1577=) c.4610A= (p.His1537=) c.4706A= (p.His1569=) c.4652A= (p.His1551=) c.4613A= (p.His1538=) c.4562A= (p.His1521=) c.1694A= (p.His565=) | |
18 | g.33744578A>C | CA402191803 | ASXL3 | c.4733A>C (p.His1578Pro) c.4730A>C (p.His1577Pro) c.4610A>C (p.His1537Pro) c.4706A>C (p.His1569Pro) c.4652A>C (p.His1551Pro) c.4613A>C (p.His1538Pro) c.4562A>C (p.His1521Pro) c.1694A>C (p.His565Pro) | |
18 | g.33744578A>G | CA402191805 | ASXL3 | c.4733A>G (p.His1578Arg) c.4730A>G (p.His1577Arg) c.4610A>G (p.His1537Arg) c.4706A>G (p.His1569Arg) c.4652A>G (p.His1551Arg) c.4613A>G (p.His1538Arg) c.4562A>G (p.His1521Arg) c.1694A>G (p.His565Arg) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.33744578A>T | CA402191804 | ASXL3 | c.4733A>T (p.His1578Leu) c.4730A>T (p.His1577Leu) c.4610A>T (p.His1537Leu) c.4706A>T (p.His1569Leu) c.4652A>T (p.His1551Leu) c.4613A>T (p.His1538Leu) c.4562A>T (p.His1521Leu) c.1694A>T (p.His565Leu) |