Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.33744478G>ACA297793696ASXL3c.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
18g.33744478G>CCA402191338ASXL3c.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)
18g.33744478G=CA2294858155ASXL3c.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=)
18g.33744478G>TCA402191339ASXL3c.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
18g.33744479C>ACA402191340ASXL3c.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
18g.33744479C>GCA402191342ASXL3c.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)
18g.33744479C>TCA402191341ASXL3c.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)
18g.33744480A>CCA503770459ASXL3c.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=)
18g.33744480A>GCA503770462ASXL3c.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=)
18g.33744480A>TCA503770463ASXL3c.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=)
18g.33744481G>ACA402191344ASXL3c.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
18g.33744481G>CCA402191346ASXL3c.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)
18g.33744481G=CA2294858156ASXL3c.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=)
18g.33744481G>TCA402191348ASXL3c.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
18g.33744482C>ACA402191352ASXL3c.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)
18g.33744482C>GCA402191354ASXL3c.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)
18g.33744482C>TCA402191356ASXL3c.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)
18g.33744483A>CCA503770468ASXL3c.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=)
18g.33744483A>GCA503770470ASXL3c.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=)
18g.33744483A>TCA503770471ASXL3c.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=)
18g.33744484A>CCA402191360ASXL3c.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)
18g.33744484A>GCA402191362ASXL3c.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)
18g.33744484A>TCA402191365ASXL3c.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)
18g.33744485A>CCA402191372ASXL3c.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)
18g.33744485A>GCA402191370ASXL3c.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)
18g.33744485A>TCA402191369ASXL3c.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)
18g.33744486A>CCA402191374ASXL3c.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)
18g.33744486A>GCA503770484ASXL3c.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=)
18g.33744486A>TCA402191377ASXL3c.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)
18g.33744487C>ACA402191380ASXL3c.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
18g.33744487C=CA2294858157ASXL3c.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=)
18g.33744487C>GCA402191382ASXL3c.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)
18g.33744487C>TCA402191385ASXL3c.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)
18g.33744488A=CA2294858158ASXL3c.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=)
18g.33744488A>CCA297793699ASXL3c.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
18g.33744488A>GCA402191390ASXL3c.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)
18g.33744488A>TCA402191392ASXL3c.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)
18g.33744489A=CA2294858159ASXL3c.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=)
18g.33744489A>CCA402191394ASXL3c.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
18g.33744489A>GCA503770492ASXL3c.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
18g.33744489A>TCA402191396ASXL3c.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)
18g.33744490G>ACA297793702ASXL3c.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
18g.33744490G>CCA8934299ASXL3c.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
18g.33744490G=CA2294858160ASXL3c.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=)
18g.33744490G>TCA402191404ASXL3c.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)
18g.33744491A=CA2294858161ASXL3c.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=)
18g.33744491A>CCA402191407ASXL3c.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)
18g.33744491A>GCA8934300ASXL3c.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
18g.33744491A>TCA402191409ASXL3c.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)
18g.33744492C>ACA402191414ASXL3c.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)
18g.33744492C>GCA402191416ASXL3c.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)
18g.33744492C>TCA503770499ASXL3c.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=)
18g.33744493A=CA2294858162ASXL3c.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=)
18g.33744493A>CCA402191420ASXL3c.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)
18g.33744493A>GCA297793709ASXL3c.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
18g.33744493A>TCA297793713ASXL3c.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
18g.33744494G>ACA402191426ASXL3c.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)
18g.33744494G>CCA402191428ASXL3c.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)
18g.33744494G>TCA402191430ASXL3c.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)
18g.33744495T>ACA402191432ASXL3c.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)
18g.33744495T>CCA8934301ASXL3c.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
18g.33744495T>GCA402191436ASXL3c.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)
18g.33744495T=CA2294858163ASXL3c.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=)
18g.33744496A>CCA402191443ASXL3c.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)
18g.33744496A>GCA402191440ASXL3c.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)
18g.33744496A>TCA402191438ASXL3c.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)
18g.33744497A>CCA402191448ASXL3c.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)
18g.33744497A>GCA402191446ASXL3c.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)
18g.33744497A>TCA402191451ASXL3c.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)
18g.33744498A>CCA402191453ASXL3c.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)
18g.33744498A>GCA503770516ASXL3c.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=)
18g.33744498A>TCA402191455ASXL3c.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)
18g.33744499A>CCA402191459ASXL3c.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)
18g.33744499A>GCA402191460ASXL3c.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)
18g.33744499A>TCA402191462ASXL3c.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)
18g.33744500C>ACA402191465ASXL3c.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)
18g.33744500C>GCA402191467ASXL3c.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)
18g.33744500C>TCA402191469ASXL3c.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)
18g.33744501A=CA2294858164ASXL3c.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=)
18g.33744501A>CCA503770530ASXL3c.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=)
18g.33744501A>GCA297793720ASXL3c.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
18g.33744501A>TCA503770531ASXL3c.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=)
18g.33744502T>ACA402191474ASXL3c.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)
18g.33744502T>CCA503770544ASXL3c.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
18g.33744502T>GCA402191477ASXL3c.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)
18g.33744502T=CA2294858165ASXL3c.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=)
18g.33744503T>ACA402191486ASXL3c.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)
18g.33744503T>CCA8934302ASXL3c.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
18g.33744503T>GCA402191481ASXL3c.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)
18g.33744503T=CA2294858166ASXL3c.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=)
18g.33744504G>ACA503770549ASXL3c.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
18g.33744504G>CCA402191488ASXL3c.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)
18g.33744504G=CA2294858167ASXL3c.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=)
18g.33744504G>TCA402191490ASXL3c.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)
18g.33744505C>ACA8934304ASXL3c.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
18g.33744505C=CA2294858168ASXL3c.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=)
18g.33744505C>GCA402191496ASXL3c.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)
18g.33744505C>TCA8934303ASXL3c.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
18g.33744506C>ACA402191500ASXL3c.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)
18g.33744506C=CA2294858169ASXL3c.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=)
18g.33744506C>GCA402191503ASXL3c.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)
18g.33744506C>TCA8934305ASXL3c.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
18g.33744507G>ACA8934306ASXL3c.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
18g.33744507G>CCA503770560ASXL3c.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
18g.33744507G=CA2294858170ASXL3c.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=)
18g.33744507G>TCA503770562ASXL3c.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=)
18g.33744508G>ACA8934307ASXL3c.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
18g.33744508G>CCA402191512ASXL3c.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)
18g.33744508G=CA2294858171ASXL3c.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=)
18g.33744508G>TCA402191515ASXL3c.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)
18g.33744509C>ACA402191520ASXL3c.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)
18g.33744509C>GCA402191522ASXL3c.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)
18g.33744509C>TCA402191518ASXL3c.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
18g.33744510C>ACA503770573ASXL3c.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=)
18g.33744510C>GCA503770574ASXL3c.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=)
18g.33744510C>TCA503770575ASXL3c.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=)
18g.33744511A>CCA402191525ASXL3c.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)
18g.33744511A>GCA402191527ASXL3c.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)
18g.33744511A>TCA402191529ASXL3c.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)
18g.33744512C>ACA402191532ASXL3c.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)
18g.33744512C>GCA402191533ASXL3c.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)
18g.33744512C>TCA402191535ASXL3c.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)
18g.33744513C>ACA503770586ASXL3c.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=)
18g.33744513C=CA2294858172ASXL3c.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=)
18g.33744513C>GCA503770587ASXL3c.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=)
18g.33744513C>TCA297793731ASXL3c.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
18g.33744514T>ACA402191539ASXL3c.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)
18g.33744514T>CCA402191541ASXL3c.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)
18g.33744514T>GCA402191543ASXL3c.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)
18g.33744515G>ACA402191547ASXL3c.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
18g.33744515G>CCA402191549ASXL3c.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)
18g.33744515G>TCA402191551ASXL3c.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)
18g.33744516C>ACA402191557ASXL3c.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)
18g.33744516C=CA2294858173ASXL3c.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=)
18g.33744516C>GCA402191559ASXL3c.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)
18g.33744516C>TCA8934308ASXL3c.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
18g.33744517A=CA2294858174ASXL3c.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=)
18g.33744517A>CCA402191562ASXL3c.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
18g.33744517A>GCA402191564ASXL3c.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
18g.33744517A>TCA402191566ASXL3c.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)
18g.33744518C>ACA402191570ASXL3c.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)
18g.33744518C>GCA402191572ASXL3c.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)
18g.33744518C>TCA402191574ASXL3c.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
18g.33744519A=CA2294858175ASXL3c.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=)
18g.33744519A>CCA503770614ASXL3c.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=)
18g.33744519A>GCA503770613ASXL3c.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
18g.33744519A>TCA503770611ASXL3c.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=)
18g.33744520A>CCA402191577ASXL3c.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)
18g.33744520A>GCA402191582ASXL3c.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)
18g.33744520A>TCA402191579ASXL3c.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)
18g.33744521G>ACA402191586ASXL3c.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)
18g.33744521G>CCA402191587ASXL3c.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)
18g.33744521G>TCA402191589ASXL3c.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
18g.33744522T>ACA402191592ASXL3c.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)
18g.33744522T>CCA503770624ASXL3c.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=)
18g.33744522T>GCA402191594ASXL3c.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)
18g.33744523C>ACA402191600ASXL3c.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)
18g.33744523C>GCA402191602ASXL3c.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)
18g.33744523C>TCA402191597ASXL3c.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)
18g.33744524T>ACA402191605ASXL3c.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)
18g.33744524T>CCA402191609ASXL3c.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
18g.33744524T>GCA402191607ASXL3c.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)
18g.33744525C>ACA503770632ASXL3c.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=)
18g.33744525C=CA2294858176ASXL3c.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=)
18g.33744525C>GCA8934309ASXL3c.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
18g.33744525C>TCA503770633ASXL3c.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=)
18g.33744526C>ACA503770635ASXL3c.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=)
18g.33744526C=CA2294858177ASXL3c.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=)
18g.33744526C>GCA8934310ASXL3c.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
18g.33744526C>TCA297793738ASXL3c.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
18g.33744527G>ACA8934311ASXL3c.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
18g.33744527G>CCA402191621ASXL3c.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)
18g.33744527G=CA2294858178ASXL3c.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=)
18g.33744527G>TCA402191624ASXL3c.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)
18g.33744528A=CA2294858179ASXL3c.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=)
18g.33744528A>CCA503770640ASXL3c.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=)
18g.33744528A>GCA503770641ASXL3c.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=)
18g.33744528A>TCA503770642ASXL3c.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
18g.33744529G>ACA402191628ASXL3c.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)
18g.33744529G>CCA402191631ASXL3c.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)
18g.33744529G>TCA402191633ASXL3c.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
18g.33744530A>CCA402191636ASXL3c.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)
18g.33744530A>GCA402191638ASXL3c.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)
18g.33744530A>TCA402191640ASXL3c.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)
18g.33744531A>CCA402191645ASXL3c.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)
18g.33744531A>GCA503770646ASXL3c.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=)
18g.33744531A>TCA402191643ASXL3c.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)
18g.33744532T>ACA402191648ASXL3c.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)
18g.33744532T>CCA503770648ASXL3c.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=)
18g.33744532T>GCA402191650ASXL3c.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)
18g.33744533T>ACA402191654ASXL3c.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)
18g.33744533T>CCA402191656ASXL3c.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
18g.33744533T>GCA402191659ASXL3c.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)
18g.33744534A>CCA402191662ASXL3c.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)
18g.33744534A>GCA503770654ASXL3c.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=)
18g.33744534A>TCA402191664ASXL3c.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)
18g.33744535C>ACA402191667ASXL3c.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)
18g.33744535C>GCA402191670ASXL3c.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)
18g.33744535C>TCA402191672ASXL3c.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
18g.33744536C>ACA402191676ASXL3c.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
18g.33744536C=CA2294858180ASXL3c.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=)
18g.33744536C>GCA402191678ASXL3c.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)
18g.33744536C>TCA402191680ASXL3c.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
18g.33744537C>ACA8934312ASXL3c.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
18g.33744537C=CA2294858181ASXL3c.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=)
18g.33744537C>GCA8934313ASXL3c.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
18g.33744537C>TCA503770665ASXL3c.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=)
18g.33744538C>ACA402191688ASXL3c.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
18g.33744538C=CA2294858182ASXL3c.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=)
18g.33744538C>GCA402191690ASXL3c.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
18g.33744538C>TCA402191692ASXL3c.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
18g.33744539T>ACA402191695ASXL3c.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)
18g.33744539T>CCA402191697ASXL3c.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)
18g.33744539T>GCA402191698ASXL3c.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)
18g.33744540T>ACA503770670ASXL3c.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=)
18g.33744540T>CCA503770673ASXL3c.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
18g.33744540T>GCA503770675ASXL3c.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=)
18g.33744540T=CA2294858183ASXL3c.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=)
18g.33744541G>ACA402191704ASXL3c.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)
18g.33744541G>CCA402191702ASXL3c.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)
18g.33744541G>TCA402191700ASXL3c.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)
18g.33744542T>ACA402191707ASXL3c.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)
18g.33744542T>CCA402191709ASXL3c.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
18g.33744542T>GCA402191712ASXL3c.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)
18g.33744542T=CA2294858184ASXL3c.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=)
18g.33744543T>ACA503770686ASXL3c.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=)
18g.33744543T>CCA503770684ASXL3c.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
18g.33744543T>GCA503770682ASXL3c.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=)
18g.33744544C>ACA402191715ASXL3c.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)
18g.33744544C>GCA402191718ASXL3c.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
18g.33744544C>TCA402191720ASXL3c.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
18g.33744545C>ACA402191723ASXL3c.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)
18g.33744545C>GCA402191727ASXL3c.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)
18g.33744545C>TCA402191725ASXL3c.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
18g.33744546A=CA2294858185ASXL3c.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=)
18g.33744546A>CCA503770690ASXL3c.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
18g.33744546A>GCA503770691ASXL3c.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=)
18g.33744546A>TCA503770692ASXL3c.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=)
18g.33744547G>ACA402191731ASXL3c.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)
18g.33744547G>CCA402191733ASXL3c.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
18g.33744547G>TCA402191734ASXL3c.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)
18g.33744548A=CA2294858186ASXL3c.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=)
18g.33744548A>CCA402191736ASXL3c.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)
18g.33744548A>GCA402191738ASXL3c.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
18g.33744548A>TCA402191740ASXL3c.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)
18g.33744549T>ACA402191741ASXL3c.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
18g.33744549T>CCA503770701ASXL3c.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=)
18g.33744549T>GCA402191742ASXL3c.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)
18g.33744554_33744558delCA2580612977ASXL3c.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
18g.33744550A=CA2294858187ASXL3c.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=)
18g.33744550A>CCA402191743ASXL3c.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
18g.33744550A>GCA402191744ASXL3c.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
18g.33744550A>TCA402191745ASXL3c.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)
18g.33744551A>CCA402191746ASXL3c.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)
18g.33744551A>GCA402191748ASXL3c.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)
18g.33744551A>TCA402191747ASXL3c.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)
18g.33744552A>CCA402191749ASXL3c.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)
18g.33744552A>GCA503770709ASXL3c.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
18g.33744552A>TCA402191750ASXL3c.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)
18g.33744553T>ACA402191751ASXL3c.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
18g.33744553T>CCA503770713ASXL3c.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
18g.33744553T>GCA402191752ASXL3c.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)
18g.33744553T=CA2294858188ASXL3c.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=)
18g.33744554T>ACA402191753ASXL3c.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)
18g.33744554T>CCA402191754ASXL3c.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)
18g.33744554T>GCA402191755ASXL3c.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)
18g.33744555A>CCA402191756ASXL3c.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)
18g.33744555A>GCA503770718ASXL3c.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
18g.33744555A>TCA402191757ASXL3c.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)
18g.33744556A>CCA402191758ASXL3c.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)
18g.33744556A>GCA402191759ASXL3c.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)
18g.33744556A>TCA402191760ASXL3c.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)
18g.33744557A>CCA402191761ASXL3c.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)
18g.33744557A>GCA402191762ASXL3c.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)
18g.33744557A>TCA402191763ASXL3c.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)
18g.33744558T>ACA402191764ASXL3c.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)
18g.33744558T>CCA503770725ASXL3c.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
18g.33744558T>GCA402191765ASXL3c.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)
18g.33744558T=CA2294858189ASXL3c.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=)
18g.33744559G>ACA402191766ASXL3c.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
18g.33744559G>CCA402191767ASXL3c.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)
18g.33744559G>TCA402191768ASXL3c.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)
18g.33744560A>CCA402191769ASXL3c.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
18g.33744560A>GCA402191770ASXL3c.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)
18g.33744560A>TCA402191771ASXL3c.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)
18g.33744561G>ACA503770733ASXL3c.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=)
18g.33744561G>CCA402191772ASXL3c.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
18g.33744561G>TCA402191773ASXL3c.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)
18g.33744562C>ACA402191774ASXL3c.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)
18g.33744562C>GCA402191775ASXL3c.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
18g.33744562C>TCA402191776ASXL3c.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
18g.33744563C>ACA402191778ASXL3c.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
18g.33744563C=CA2294858190ASXL3c.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=)
18g.33744563C>GCA402191777ASXL3c.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
18g.33744563C>TCA8934314ASXL3c.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
18g.33744564G>ACA8934315ASXL3c.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
18g.33744564G>CCA503770740ASXL3c.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
18g.33744564G=CA2294858191ASXL3c.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=)
18g.33744564G>TCA503770742ASXL3c.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
18g.33744565A=CA2294858192ASXL3c.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=)
18g.33744565A>CCA402191779ASXL3c.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)
18g.33744565A>GCA8934316ASXL3c.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
18g.33744565A>TCA402191780ASXL3c.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)
18g.33744566C>ACA402191781ASXL3c.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)
18g.33744566C=CA2294858193ASXL3c.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=)
18g.33744566C>GCA402191782ASXL3c.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
18g.33744566C>TCA8934317ASXL3c.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
18g.33744567T>ACA503770750ASXL3c.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=)
18g.33744567T>CCA503770751ASXL3c.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=)
18g.33744567T>GCA503770752ASXL3c.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=)
18g.33744568G>ACA402191783ASXL3c.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
18g.33744568G>CCA402191784ASXL3c.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
18g.33744568G=CA2294858194ASXL3c.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=)
18g.33744568G>TCA402191785ASXL3c.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)
18g.33744569C>ACA402191786ASXL3c.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
18g.33744569C=CA2294858195ASXL3c.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=)
18g.33744569C>GCA402191787ASXL3c.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)
18g.33744569C>TCA8934318ASXL3c.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
18g.33744570T>ACA503770760ASXL3c.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
18g.33744570T>CCA503770759ASXL3c.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=)
18g.33744570T>GCA503770763ASXL3c.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
18g.33744570T=CA2294858196ASXL3c.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=)
18g.33744571C>ACA402191790ASXL3c.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)
18g.33744571C>GCA402191788ASXL3c.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)
18g.33744571C>TCA402191789ASXL3c.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)
18g.33744572C>ACA402191791ASXL3c.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)
18g.33744572C=CA2294858197ASXL3c.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=)
18g.33744572C>GCA297793765ASXL3c.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
18g.33744572C>TCA402191792ASXL3c.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)
18g.33744573C>ACA297793768ASXL3c.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
18g.33744573C=CA2294858198ASXL3c.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=)
18g.33744573C>GCA503770769ASXL3c.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=)
18g.33744573C>TCA503770770ASXL3c.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
18g.33744574A>CCA402191793ASXL3c.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
18g.33744574A>GCA402191794ASXL3c.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)
18g.33744574A>TCA402191795ASXL3c.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)
18g.33744575G>ACA402191796ASXL3c.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
18g.33744575G>CCA402191797ASXL3c.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)
18g.33744575G>TCA402191798ASXL3c.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)
18g.33744576T>ACA402191799ASXL3c.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)
18g.33744576T>CCA503770778ASXL3c.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=)
18g.33744576T>GCA402191800ASXL3c.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)
18g.33744577C>ACA402191802ASXL3c.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
18g.33744577C=CA2294858199ASXL3c.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=)
18g.33744577C>GCA402191801ASXL3c.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
18g.33744577C>TCA8934319ASXL3c.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
18g.33744578A=CA2294858200ASXL3c.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=)
18g.33744578A>CCA402191803ASXL3c.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)
18g.33744578A>GCA402191805ASXL3c.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
18g.33744578A>TCA402191804ASXL3c.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)

Number of alleles fetched