Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.33744395G>ACA402191160ASXL3c.4550G>A (p.Cys1517Tyr)
c.4547G>A (p.Cys1516Tyr)
c.4427G>A (p.Cys1476Tyr)
c.4523G>A (p.Cys1508Tyr)
c.4469G>A (p.Cys1490Tyr)
c.4430G>A (p.Cys1477Tyr)
c.4379G>A (p.Cys1460Tyr)
c.1511G>A (p.Cys504Tyr)
18g.33744395G>CCA402191161ASXL3c.4550G>C (p.Cys1517Ser)
c.4547G>C (p.Cys1516Ser)
c.4427G>C (p.Cys1476Ser)
c.4523G>C (p.Cys1508Ser)
c.4469G>C (p.Cys1490Ser)
c.4430G>C (p.Cys1477Ser)
c.4379G>C (p.Cys1460Ser)
c.1511G>C (p.Cys504Ser)
18g.33744395G>TCA402191162ASXL3c.4550G>T (p.Cys1517Phe)
c.4547G>T (p.Cys1516Phe)
c.4427G>T (p.Cys1476Phe)
c.4523G>T (p.Cys1508Phe)
c.4469G>T (p.Cys1490Phe)
c.4430G>T (p.Cys1477Phe)
c.4379G>T (p.Cys1460Phe)
c.1511G>T (p.Cys504Phe)
18g.33744396T>ACA402191163ASXL3c.4551T>A (p.Cys1517Ter)
c.4548T>A (p.Cys1516Ter)
c.4428T>A (p.Cys1476Ter)
c.4524T>A (p.Cys1508Ter)
c.4470T>A (p.Cys1490Ter)
c.4431T>A (p.Cys1477Ter)
c.4380T>A (p.Cys1460Ter)
c.1512T>A (p.Cys504Ter)
18g.33744396T>CCA503770631ASXL3c.4551T>C (p.Cys1517=)
c.4548T>C (p.Cys1516=)
c.4428T>C (p.Cys1476=)
c.4524T>C (p.Cys1508=)
c.4470T>C (p.Cys1490=)
c.4431T>C (p.Cys1477=)
c.4380T>C (p.Cys1460=)
c.1512T>C (p.Cys504=)
18g.33744396T>GCA402191164ASXL3c.4551T>G (p.Cys1517Trp)
c.4548T>G (p.Cys1516Trp)
c.4428T>G (p.Cys1476Trp)
c.4524T>G (p.Cys1508Trp)
c.4470T>G (p.Cys1490Trp)
c.4431T>G (p.Cys1477Trp)
c.4380T>G (p.Cys1460Trp)
c.1512T>G (p.Cys504Trp)
18g.33744397C>ACA402191165ASXL3c.4552C>A (p.Pro1518Thr)
c.4549C>A (p.Pro1517Thr)
c.4429C>A (p.Pro1477Thr)
c.4525C>A (p.Pro1509Thr)
c.4471C>A (p.Pro1491Thr)
c.4432C>A (p.Pro1478Thr)
c.4381C>A (p.Pro1461Thr)
c.1513C>A (p.Pro505Thr)
18g.33744397C=CA2294858118ASXL3c.4552C= (p.Pro1518=)
c.4549C= (p.Pro1517=)
c.4429C= (p.Pro1477=)
c.4525C= (p.Pro1509=)
c.4471C= (p.Pro1491=)
c.4432C= (p.Pro1478=)
c.4381C= (p.Pro1461=)
c.1513C= (p.Pro505=)
18g.33744397C>GCA402191166ASXL3c.4552C>G (p.Pro1518Ala)
c.4549C>G (p.Pro1517Ala)
c.4429C>G (p.Pro1477Ala)
c.4525C>G (p.Pro1509Ala)
c.4471C>G (p.Pro1491Ala)
c.4432C>G (p.Pro1478Ala)
c.4381C>G (p.Pro1461Ala)
c.1513C>G (p.Pro505Ala)
18g.33744397C>TCA402191167ASXL3c.4552C>T (p.Pro1518Ser)
c.4549C>T (p.Pro1517Ser)
c.4429C>T (p.Pro1477Ser)
c.4525C>T (p.Pro1509Ser)
c.4471C>T (p.Pro1491Ser)
c.4432C>T (p.Pro1478Ser)
c.4381C>T (p.Pro1461Ser)
c.1513C>T (p.Pro505Ser)
 dbSNP gnomAD v2 gnomAD v4
18g.33744398C>ACA402191168ASXL3c.4553C>A (p.Pro1518His)
c.4550C>A (p.Pro1517His)
c.4430C>A (p.Pro1477His)
c.4526C>A (p.Pro1509His)
c.4472C>A (p.Pro1491His)
c.4433C>A (p.Pro1478His)
c.4382C>A (p.Pro1461His)
c.1514C>A (p.Pro505His)
 gnomAD v4
18g.33744398C>GCA402191169ASXL3c.4553C>G (p.Pro1518Arg)
c.4550C>G (p.Pro1517Arg)
c.4430C>G (p.Pro1477Arg)
c.4526C>G (p.Pro1509Arg)
c.4472C>G (p.Pro1491Arg)
c.4433C>G (p.Pro1478Arg)
c.4382C>G (p.Pro1461Arg)
c.1514C>G (p.Pro505Arg)
18g.33744398C>TCA402191170ASXL3c.4553C>T (p.Pro1518Leu)
c.4550C>T (p.Pro1517Leu)
c.4430C>T (p.Pro1477Leu)
c.4526C>T (p.Pro1509Leu)
c.4472C>T (p.Pro1491Leu)
c.4433C>T (p.Pro1478Leu)
c.4382C>T (p.Pro1461Leu)
c.1514C>T (p.Pro505Leu)
18g.33744399T>ACA503770636ASXL3c.4554T>A (p.Pro1518=)
c.4551T>A (p.Pro1517=)
c.4431T>A (p.Pro1477=)
c.4527T>A (p.Pro1509=)
c.4473T>A (p.Pro1491=)
c.4434T>A (p.Pro1478=)
c.4383T>A (p.Pro1461=)
c.1515T>A (p.Pro505=)
18g.33744399T>CCA503770638ASXL3c.4554T>C (p.Pro1518=)
c.4551T>C (p.Pro1517=)
c.4431T>C (p.Pro1477=)
c.4527T>C (p.Pro1509=)
c.4473T>C (p.Pro1491=)
c.4434T>C (p.Pro1478=)
c.4383T>C (p.Pro1461=)
c.1515T>C (p.Pro505=)
18g.33744399T>GCA503770643ASXL3c.4554T>G (p.Pro1518=)
c.4551T>G (p.Pro1517=)
c.4431T>G (p.Pro1477=)
c.4527T>G (p.Pro1509=)
c.4473T>G (p.Pro1491=)
c.4434T>G (p.Pro1478=)
c.4383T>G (p.Pro1461=)
c.1515T>G (p.Pro505=)
18g.33744400C>ACA402191172ASXL3c.4555C>A (p.Gln1519Lys)
c.4552C>A (p.Gln1518Lys)
c.4432C>A (p.Gln1478Lys)
c.4528C>A (p.Gln1510Lys)
c.4474C>A (p.Gln1492Lys)
c.4435C>A (p.Gln1479Lys)
c.4384C>A (p.Gln1462Lys)
c.1516C>A (p.Gln506Lys)
18g.33744400C=CA2294858119ASXL3c.4555C= (p.Gln1519=)
c.4552C= (p.Gln1518=)
c.4432C= (p.Gln1478=)
c.4528C= (p.Gln1510=)
c.4474C= (p.Gln1492=)
c.4435C= (p.Gln1479=)
c.4384C= (p.Gln1462=)
c.1516C= (p.Gln506=)
18g.33744400C>GCA402191173ASXL3c.4555C>G (p.Gln1519Glu)
c.4552C>G (p.Gln1518Glu)
c.4432C>G (p.Gln1478Glu)
c.4528C>G (p.Gln1510Glu)
c.4474C>G (p.Gln1492Glu)
c.4435C>G (p.Gln1479Glu)
c.4384C>G (p.Gln1462Glu)
c.1516C>G (p.Gln506Glu)
 dbSNP
18g.33744400C>TCA402191171ASXL3c.4555C>T (p.Gln1519Ter)
c.4552C>T (p.Gln1518Ter)
c.4432C>T (p.Gln1478Ter)
c.4528C>T (p.Gln1510Ter)
c.4474C>T (p.Gln1492Ter)
c.4435C>T (p.Gln1479Ter)
c.4384C>T (p.Gln1462Ter)
c.1516C>T (p.Gln506Ter)
18g.33744401A>CCA402191174ASXL3c.4556A>C (p.Gln1519Pro)
c.4553A>C (p.Gln1518Pro)
c.4433A>C (p.Gln1478Pro)
c.4529A>C (p.Gln1510Pro)
c.4475A>C (p.Gln1492Pro)
c.4436A>C (p.Gln1479Pro)
c.4385A>C (p.Gln1462Pro)
c.1517A>C (p.Gln506Pro)
18g.33744401A>GCA402191175ASXL3c.4556A>G (p.Gln1519Arg)
c.4553A>G (p.Gln1518Arg)
c.4433A>G (p.Gln1478Arg)
c.4529A>G (p.Gln1510Arg)
c.4475A>G (p.Gln1492Arg)
c.4436A>G (p.Gln1479Arg)
c.4385A>G (p.Gln1462Arg)
c.1517A>G (p.Gln506Arg)
18g.33744401A>TCA402191176ASXL3c.4556A>T (p.Gln1519Leu)
c.4553A>T (p.Gln1518Leu)
c.4433A>T (p.Gln1478Leu)
c.4529A>T (p.Gln1510Leu)
c.4475A>T (p.Gln1492Leu)
c.4436A>T (p.Gln1479Leu)
c.4385A>T (p.Gln1462Leu)
c.1517A>T (p.Gln506Leu)
18g.33744402G>ACA503770649ASXL3c.4557G>A (p.Gln1519=)
c.4554G>A (p.Gln1518=)
c.4434G>A (p.Gln1478=)
c.4530G>A (p.Gln1510=)
c.4476G>A (p.Gln1492=)
c.4437G>A (p.Gln1479=)
c.4386G>A (p.Gln1462=)
c.1518G>A (p.Gln506=)
 gnomAD v4
18g.33744402G>CCA402191177ASXL3c.4557G>C (p.Gln1519His)
c.4554G>C (p.Gln1518His)
c.4434G>C (p.Gln1478His)
c.4530G>C (p.Gln1510His)
c.4476G>C (p.Gln1492His)
c.4437G>C (p.Gln1479His)
c.4386G>C (p.Gln1462His)
c.1518G>C (p.Gln506His)
18g.33744402G>TCA402191178ASXL3c.4557G>T (p.Gln1519His)
c.4554G>T (p.Gln1518His)
c.4434G>T (p.Gln1478His)
c.4530G>T (p.Gln1510His)
c.4476G>T (p.Gln1492His)
c.4437G>T (p.Gln1479His)
c.4386G>T (p.Gln1462His)
c.1518G>T (p.Gln506His)
18g.33744403G>ACA402191181ASXL3c.4558G>A (p.Val1520Met)
c.4555G>A (p.Val1519Met)
c.4435G>A (p.Val1479Met)
c.4531G>A (p.Val1511Met)
c.4477G>A (p.Val1493Met)
c.4438G>A (p.Val1480Met)
c.4387G>A (p.Val1463Met)
c.1519G>A (p.Val507Met)
 dbSNP
18g.33744403G>CCA402191180ASXL3c.4558G>C (p.Val1520Leu)
c.4555G>C (p.Val1519Leu)
c.4435G>C (p.Val1479Leu)
c.4531G>C (p.Val1511Leu)
c.4477G>C (p.Val1493Leu)
c.4438G>C (p.Val1480Leu)
c.4387G>C (p.Val1463Leu)
c.1519G>C (p.Val507Leu)
 gnomAD v4
18g.33744403G=CA2294858120ASXL3c.4558G= (p.Val1520=)
c.4555G= (p.Val1519=)
c.4435G= (p.Val1479=)
c.4531G= (p.Val1511=)
c.4477G= (p.Val1493=)
c.4438G= (p.Val1480=)
c.4387G= (p.Val1463=)
c.1519G= (p.Val507=)
18g.33744403G>TCA402191179ASXL3c.4558G>T (p.Val1520Leu)
c.4555G>T (p.Val1519Leu)
c.4435G>T (p.Val1479Leu)
c.4531G>T (p.Val1511Leu)
c.4477G>T (p.Val1493Leu)
c.4438G>T (p.Val1480Leu)
c.4387G>T (p.Val1463Leu)
c.1519G>T (p.Val507Leu)
18g.33744404T>ACA402191182ASXL3c.4559T>A (p.Val1520Glu)
c.4556T>A (p.Val1519Glu)
c.4436T>A (p.Val1479Glu)
c.4532T>A (p.Val1511Glu)
c.4478T>A (p.Val1493Glu)
c.4439T>A (p.Val1480Glu)
c.4388T>A (p.Val1463Glu)
c.1520T>A (p.Val507Glu)
18g.33744404T>CCA402191183ASXL3c.4559T>C (p.Val1520Ala)
c.4556T>C (p.Val1519Ala)
c.4436T>C (p.Val1479Ala)
c.4532T>C (p.Val1511Ala)
c.4478T>C (p.Val1493Ala)
c.4439T>C (p.Val1480Ala)
c.4388T>C (p.Val1463Ala)
c.1520T>C (p.Val507Ala)
18g.33744404T>GCA402191184ASXL3c.4559T>G (p.Val1520Gly)
c.4556T>G (p.Val1519Gly)
c.4436T>G (p.Val1479Gly)
c.4532T>G (p.Val1511Gly)
c.4478T>G (p.Val1493Gly)
c.4439T>G (p.Val1480Gly)
c.4388T>G (p.Val1463Gly)
c.1520T>G (p.Val507Gly)
18g.33744405G>ACA503770655ASXL3c.4560G>A (p.Val1520=)
c.4557G>A (p.Val1519=)
c.4437G>A (p.Val1479=)
c.4533G>A (p.Val1511=)
c.4479G>A (p.Val1493=)
c.4440G>A (p.Val1480=)
c.4389G>A (p.Val1463=)
c.1521G>A (p.Val507=)
18g.33744405G>CCA503770656ASXL3c.4560G>C (p.Val1520=)
c.4557G>C (p.Val1519=)
c.4437G>C (p.Val1479=)
c.4533G>C (p.Val1511=)
c.4479G>C (p.Val1493=)
c.4440G>C (p.Val1480=)
c.4389G>C (p.Val1463=)
c.1521G>C (p.Val507=)
18g.33744405G>TCA503770657ASXL3c.4560G>T (p.Val1520=)
c.4557G>T (p.Val1519=)
c.4437G>T (p.Val1479=)
c.4533G>T (p.Val1511=)
c.4479G>T (p.Val1493=)
c.4440G>T (p.Val1480=)
c.4389G>T (p.Val1463=)
c.1521G>T (p.Val507=)
18g.33744406T>ACA402191185ASXL3c.4561T>A (p.Ser1521Thr)
c.4558T>A (p.Ser1520Thr)
c.4438T>A (p.Ser1480Thr)
c.4534T>A (p.Ser1512Thr)
c.4480T>A (p.Ser1494Thr)
c.4441T>A (p.Ser1481Thr)
c.4390T>A (p.Ser1464Thr)
c.1522T>A (p.Ser508Thr)
18g.33744406T>CCA402191186ASXL3c.4561T>C (p.Ser1521Pro)
c.4558T>C (p.Ser1520Pro)
c.4438T>C (p.Ser1480Pro)
c.4534T>C (p.Ser1512Pro)
c.4480T>C (p.Ser1494Pro)
c.4441T>C (p.Ser1481Pro)
c.4390T>C (p.Ser1464Pro)
c.1522T>C (p.Ser508Pro)
18g.33744406T>GCA402191187ASXL3c.4561T>G (p.Ser1521Ala)
c.4558T>G (p.Ser1520Ala)
c.4438T>G (p.Ser1480Ala)
c.4534T>G (p.Ser1512Ala)
c.4480T>G (p.Ser1494Ala)
c.4441T>G (p.Ser1481Ala)
c.4390T>G (p.Ser1464Ala)
c.1522T>G (p.Ser508Ala)
18g.33744407C>ACA402191188ASXL3c.4562C>A (p.Ser1521Tyr)
c.4559C>A (p.Ser1520Tyr)
c.4439C>A (p.Ser1480Tyr)
c.4535C>A (p.Ser1512Tyr)
c.4481C>A (p.Ser1494Tyr)
c.4442C>A (p.Ser1481Tyr)
c.4391C>A (p.Ser1464Tyr)
c.1523C>A (p.Ser508Tyr)
 dbSNP gnomAD v3 gnomAD v4
18g.33744407C=CA2294858121ASXL3c.4562C= (p.Ser1521=)
c.4559C= (p.Ser1520=)
c.4439C= (p.Ser1480=)
c.4535C= (p.Ser1512=)
c.4481C= (p.Ser1494=)
c.4442C= (p.Ser1481=)
c.4391C= (p.Ser1464=)
c.1523C= (p.Ser508=)
18g.33744407C>GCA402191189ASXL3c.4562C>G (p.Ser1521Cys)
c.4559C>G (p.Ser1520Cys)
c.4439C>G (p.Ser1480Cys)
c.4535C>G (p.Ser1512Cys)
c.4481C>G (p.Ser1494Cys)
c.4442C>G (p.Ser1481Cys)
c.4391C>G (p.Ser1464Cys)
c.1523C>G (p.Ser508Cys)
18g.33744407C>TCA297793668ASXL3c.4562C>T (p.Ser1521Phe)
c.4559C>T (p.Ser1520Phe)
c.4439C>T (p.Ser1480Phe)
c.4535C>T (p.Ser1512Phe)
c.4481C>T (p.Ser1494Phe)
c.4442C>T (p.Ser1481Phe)
c.4391C>T (p.Ser1464Phe)
c.1523C>T (p.Ser508Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33744408T>ACA503770661ASXL3c.4563T>A (p.Ser1521=)
c.4560T>A (p.Ser1520=)
c.4440T>A (p.Ser1480=)
c.4536T>A (p.Ser1512=)
c.4482T>A (p.Ser1494=)
c.4443T>A (p.Ser1481=)
c.4392T>A (p.Ser1464=)
c.1524T>A (p.Ser508=)
18g.33744408T>CCA503770662ASXL3c.4563T>C (p.Ser1521=)
c.4560T>C (p.Ser1520=)
c.4440T>C (p.Ser1480=)
c.4536T>C (p.Ser1512=)
c.4482T>C (p.Ser1494=)
c.4443T>C (p.Ser1481=)
c.4392T>C (p.Ser1464=)
c.1524T>C (p.Ser508=)
18g.33744408T>GCA503770664ASXL3c.4563T>G (p.Ser1521=)
c.4560T>G (p.Ser1520=)
c.4440T>G (p.Ser1480=)
c.4536T>G (p.Ser1512=)
c.4482T>G (p.Ser1494=)
c.4443T>G (p.Ser1481=)
c.4392T>G (p.Ser1464=)
c.1524T>G (p.Ser508=)
18g.33744409G>ACA402191190ASXL3c.4564G>A (p.Val1522Met)
c.4561G>A (p.Val1521Met)
c.4441G>A (p.Val1481Met)
c.4537G>A (p.Val1513Met)
c.4483G>A (p.Val1495Met)
c.4444G>A (p.Val1482Met)
c.4393G>A (p.Val1465Met)
c.1525G>A (p.Val509Met)
18g.33744409G>CCA402191191ASXL3c.4564G>C (p.Val1522Leu)
c.4561G>C (p.Val1521Leu)
c.4441G>C (p.Val1481Leu)
c.4537G>C (p.Val1513Leu)
c.4483G>C (p.Val1495Leu)
c.4444G>C (p.Val1482Leu)
c.4393G>C (p.Val1465Leu)
c.1525G>C (p.Val509Leu)
18g.33744409G>TCA402191192ASXL3c.4564G>T (p.Val1522Leu)
c.4561G>T (p.Val1521Leu)
c.4441G>T (p.Val1481Leu)
c.4537G>T (p.Val1513Leu)
c.4483G>T (p.Val1495Leu)
c.4444G>T (p.Val1482Leu)
c.4393G>T (p.Val1465Leu)
c.1525G>T (p.Val509Leu)
18g.33744410T>ACA402191193ASXL3c.4565T>A (p.Val1522Glu)
c.4562T>A (p.Val1521Glu)
c.4442T>A (p.Val1481Glu)
c.4538T>A (p.Val1513Glu)
c.4484T>A (p.Val1495Glu)
c.4445T>A (p.Val1482Glu)
c.4394T>A (p.Val1465Glu)
c.1526T>A (p.Val509Glu)
 gnomAD v4
18g.33744410T>CCA402191194ASXL3c.4565T>C (p.Val1522Ala)
c.4562T>C (p.Val1521Ala)
c.4442T>C (p.Val1481Ala)
c.4538T>C (p.Val1513Ala)
c.4484T>C (p.Val1495Ala)
c.4445T>C (p.Val1482Ala)
c.4394T>C (p.Val1465Ala)
c.1526T>C (p.Val509Ala)
18g.33744410T>GCA402191195ASXL3c.4565T>G (p.Val1522Gly)
c.4562T>G (p.Val1521Gly)
c.4442T>G (p.Val1481Gly)
c.4538T>G (p.Val1513Gly)
c.4484T>G (p.Val1495Gly)
c.4445T>G (p.Val1482Gly)
c.4394T>G (p.Val1465Gly)
c.1526T>G (p.Val509Gly)
18g.33744411G>ACA503770666ASXL3c.4566G>A (p.Val1522=)
c.4563G>A (p.Val1521=)
c.4443G>A (p.Val1481=)
c.4539G>A (p.Val1513=)
c.4485G>A (p.Val1495=)
c.4446G>A (p.Val1482=)
c.4395G>A (p.Val1465=)
c.1527G>A (p.Val509=)
18g.33744411G>CCA503770668ASXL3c.4566G>C (p.Val1522=)
c.4563G>C (p.Val1521=)
c.4443G>C (p.Val1481=)
c.4539G>C (p.Val1513=)
c.4485G>C (p.Val1495=)
c.4446G>C (p.Val1482=)
c.4395G>C (p.Val1465=)
c.1527G>C (p.Val509=)
18g.33744411G>TCA503770667ASXL3c.4566G>T (p.Val1522=)
c.4563G>T (p.Val1521=)
c.4443G>T (p.Val1481=)
c.4539G>T (p.Val1513=)
c.4485G>T (p.Val1495=)
c.4446G>T (p.Val1482=)
c.4395G>T (p.Val1465=)
c.1527G>T (p.Val509=)
18g.33744412A=CA2294858122ASXL3c.4567A= (p.Ile1523=)
c.4564A= (p.Ile1522=)
c.4444A= (p.Ile1482=)
c.4540A= (p.Ile1514=)
c.4486A= (p.Ile1496=)
c.4447A= (p.Ile1483=)
c.4396A= (p.Ile1466=)
c.1528A= (p.Ile510=)
18g.33744412A>CCA402191196ASXL3c.4567A>C (p.Ile1523Leu)
c.4564A>C (p.Ile1522Leu)
c.4444A>C (p.Ile1482Leu)
c.4540A>C (p.Ile1514Leu)
c.4486A>C (p.Ile1496Leu)
c.4447A>C (p.Ile1483Leu)
c.4396A>C (p.Ile1466Leu)
c.1528A>C (p.Ile510Leu)
 gnomAD v4
18g.33744412A>GCA402191197ASXL3c.4567A>G (p.Ile1523Val)
c.4564A>G (p.Ile1522Val)
c.4444A>G (p.Ile1482Val)
c.4540A>G (p.Ile1514Val)
c.4486A>G (p.Ile1496Val)
c.4447A>G (p.Ile1483Val)
c.4396A>G (p.Ile1466Val)
c.1528A>G (p.Ile510Val)
 dbSNP
18g.33744412A>TCA402191198ASXL3c.4567A>T (p.Ile1523Phe)
c.4564A>T (p.Ile1522Phe)
c.4444A>T (p.Ile1482Phe)
c.4540A>T (p.Ile1514Phe)
c.4486A>T (p.Ile1496Phe)
c.4447A>T (p.Ile1483Phe)
c.4396A>T (p.Ile1466Phe)
c.1528A>T (p.Ile510Phe)
18g.33744413T>ACA402191199ASXL3c.4568T>A (p.Ile1523Asn)
c.4565T>A (p.Ile1522Asn)
c.4445T>A (p.Ile1482Asn)
c.4541T>A (p.Ile1514Asn)
c.4487T>A (p.Ile1496Asn)
c.4448T>A (p.Ile1483Asn)
c.4397T>A (p.Ile1466Asn)
c.1529T>A (p.Ile510Asn)
18g.33744413T>CCA402191200ASXL3c.4568T>C (p.Ile1523Thr)
c.4565T>C (p.Ile1522Thr)
c.4445T>C (p.Ile1482Thr)
c.4541T>C (p.Ile1514Thr)
c.4487T>C (p.Ile1496Thr)
c.4448T>C (p.Ile1483Thr)
c.4397T>C (p.Ile1466Thr)
c.1529T>C (p.Ile510Thr)
18g.33744413T>GCA402191201ASXL3c.4568T>G (p.Ile1523Ser)
c.4565T>G (p.Ile1522Ser)
c.4445T>G (p.Ile1482Ser)
c.4541T>G (p.Ile1514Ser)
c.4487T>G (p.Ile1496Ser)
c.4448T>G (p.Ile1483Ser)
c.4397T>G (p.Ile1466Ser)
c.1529T>G (p.Ile510Ser)
18g.33744414T>ACA503770674ASXL3c.4569T>A (p.Ile1523=)
c.4566T>A (p.Ile1522=)
c.4446T>A (p.Ile1482=)
c.4542T>A (p.Ile1514=)
c.4488T>A (p.Ile1496=)
c.4449T>A (p.Ile1483=)
c.4398T>A (p.Ile1466=)
c.1530T>A (p.Ile510=)
18g.33744414T>CCA503770676ASXL3c.4569T>C (p.Ile1523=)
c.4566T>C (p.Ile1522=)
c.4446T>C (p.Ile1482=)
c.4542T>C (p.Ile1514=)
c.4488T>C (p.Ile1496=)
c.4449T>C (p.Ile1483=)
c.4398T>C (p.Ile1466=)
c.1530T>C (p.Ile510=)
18g.33744414T>GCA402191202ASXL3c.4569T>G (p.Ile1523Met)
c.4566T>G (p.Ile1522Met)
c.4446T>G (p.Ile1482Met)
c.4542T>G (p.Ile1514Met)
c.4488T>G (p.Ile1496Met)
c.4449T>G (p.Ile1483Met)
c.4398T>G (p.Ile1466Met)
c.1530T>G (p.Ile510Met)
18g.33744415A>CCA402191204ASXL3c.4570A>C (p.Ser1524Arg)
c.4567A>C (p.Ser1523Arg)
c.4447A>C (p.Ser1483Arg)
c.4543A>C (p.Ser1515Arg)
c.4489A>C (p.Ser1497Arg)
c.4450A>C (p.Ser1484Arg)
c.4399A>C (p.Ser1467Arg)
c.1531A>C (p.Ser511Arg)
18g.33744415A>GCA402191203ASXL3c.4570A>G (p.Ser1524Gly)
c.4567A>G (p.Ser1523Gly)
c.4447A>G (p.Ser1483Gly)
c.4543A>G (p.Ser1515Gly)
c.4489A>G (p.Ser1497Gly)
c.4450A>G (p.Ser1484Gly)
c.4399A>G (p.Ser1467Gly)
c.1531A>G (p.Ser511Gly)
18g.33744415A>TCA402191205ASXL3c.4570A>T (p.Ser1524Cys)
c.4567A>T (p.Ser1523Cys)
c.4447A>T (p.Ser1483Cys)
c.4543A>T (p.Ser1515Cys)
c.4489A>T (p.Ser1497Cys)
c.4450A>T (p.Ser1484Cys)
c.4399A>T (p.Ser1467Cys)
c.1531A>T (p.Ser511Cys)
18g.33744417_33744419delCA2641457828ASXL3c.4572_4574del (p.Ser1524del)
c.4569_4571del (p.Ser1523del)
c.4449_4451del (p.Ser1483del)
c.4545_4547del (p.Ser1515del)
c.4491_4493del (p.Ser1497del)
c.4452_4454del (p.Ser1484del)
c.4401_4403del (p.Ser1467del)
c.1533_1535del (p.Ser511del)
 gnomAD v4
18g.33744416G>ACA402191206ASXL3c.4571G>A (p.Ser1524Asn)
c.4568G>A (p.Ser1523Asn)
c.4448G>A (p.Ser1483Asn)
c.4544G>A (p.Ser1515Asn)
c.4490G>A (p.Ser1497Asn)
c.4451G>A (p.Ser1484Asn)
c.4400G>A (p.Ser1467Asn)
c.1532G>A (p.Ser511Asn)
18g.33744416G>CCA402191207ASXL3c.4571G>C (p.Ser1524Thr)
c.4568G>C (p.Ser1523Thr)
c.4448G>C (p.Ser1483Thr)
c.4544G>C (p.Ser1515Thr)
c.4490G>C (p.Ser1497Thr)
c.4451G>C (p.Ser1484Thr)
c.4400G>C (p.Ser1467Thr)
c.1532G>C (p.Ser511Thr)
 dbSNP gnomAD v2 gnomAD v4
18g.33744416G=CA2294858123ASXL3c.4571G= (p.Ser1524=)
c.4568G= (p.Ser1523=)
c.4448G= (p.Ser1483=)
c.4544G= (p.Ser1515=)
c.4490G= (p.Ser1497=)
c.4451G= (p.Ser1484=)
c.4400G= (p.Ser1467=)
c.1532G= (p.Ser511=)
18g.33744416G>TCA402191208ASXL3c.4571G>T (p.Ser1524Ile)
c.4568G>T (p.Ser1523Ile)
c.4448G>T (p.Ser1483Ile)
c.4544G>T (p.Ser1515Ile)
c.4490G>T (p.Ser1497Ile)
c.4451G>T (p.Ser1484Ile)
c.4400G>T (p.Ser1467Ile)
c.1532G>T (p.Ser511Ile)
18g.33744417C>ACA402191209ASXL3c.4572C>A (p.Ser1524Arg)
c.4569C>A (p.Ser1523Arg)
c.4449C>A (p.Ser1483Arg)
c.4545C>A (p.Ser1515Arg)
c.4491C>A (p.Ser1497Arg)
c.4452C>A (p.Ser1484Arg)
c.4401C>A (p.Ser1467Arg)
c.1533C>A (p.Ser511Arg)
18g.33744417C=CA2294858124ASXL3c.4572C= (p.Ser1524=)
c.4569C= (p.Ser1523=)
c.4449C= (p.Ser1483=)
c.4545C= (p.Ser1515=)
c.4491C= (p.Ser1497=)
c.4452C= (p.Ser1484=)
c.4401C= (p.Ser1467=)
c.1533C= (p.Ser511=)
18g.33744417C>GCA402191210ASXL3c.4572C>G (p.Ser1524Arg)
c.4569C>G (p.Ser1523Arg)
c.4449C>G (p.Ser1483Arg)
c.4545C>G (p.Ser1515Arg)
c.4491C>G (p.Ser1497Arg)
c.4452C>G (p.Ser1484Arg)
c.4401C>G (p.Ser1467Arg)
c.1533C>G (p.Ser511Arg)
18g.33744417C>TCA8934288ASXL3c.4572C>T (p.Ser1524=)
c.4569C>T (p.Ser1523=)
c.4449C>T (p.Ser1483=)
c.4545C>T (p.Ser1515=)
c.4491C>T (p.Ser1497=)
c.4452C>T (p.Ser1484=)
c.4401C>T (p.Ser1467=)
c.1533C>T (p.Ser511=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744418A>CCA503770683ASXL3c.4573A>C (p.Arg1525=)
c.4570A>C (p.Arg1524=)
c.4450A>C (p.Arg1484=)
c.4546A>C (p.Arg1516=)
c.4492A>C (p.Arg1498=)
c.4453A>C (p.Arg1485=)
c.4402A>C (p.Arg1468=)
c.1534A>C (p.Arg512=)
18g.33744418A>GCA402191211ASXL3c.4573A>G (p.Arg1525Gly)
c.4570A>G (p.Arg1524Gly)
c.4450A>G (p.Arg1484Gly)
c.4546A>G (p.Arg1516Gly)
c.4492A>G (p.Arg1498Gly)
c.4453A>G (p.Arg1485Gly)
c.4402A>G (p.Arg1468Gly)
c.1534A>G (p.Arg512Gly)
18g.33744418A>TCA402191212ASXL3c.4573A>T (p.Arg1525Trp)
c.4570A>T (p.Arg1524Trp)
c.4450A>T (p.Arg1484Trp)
c.4546A>T (p.Arg1516Trp)
c.4492A>T (p.Arg1498Trp)
c.4453A>T (p.Arg1485Trp)
c.4402A>T (p.Arg1468Trp)
c.1534A>T (p.Arg512Trp)
18g.33744419G>ACA402191213ASXL3c.4574G>A (p.Arg1525Lys)
c.4571G>A (p.Arg1524Lys)
c.4451G>A (p.Arg1484Lys)
c.4547G>A (p.Arg1516Lys)
c.4493G>A (p.Arg1498Lys)
c.4454G>A (p.Arg1485Lys)
c.4403G>A (p.Arg1468Lys)
c.1535G>A (p.Arg512Lys)
18g.33744419G>CCA402191214ASXL3c.4574G>C (p.Arg1525Thr)
c.4571G>C (p.Arg1524Thr)
c.4451G>C (p.Arg1484Thr)
c.4547G>C (p.Arg1516Thr)
c.4493G>C (p.Arg1498Thr)
c.4454G>C (p.Arg1485Thr)
c.4403G>C (p.Arg1468Thr)
c.1535G>C (p.Arg512Thr)
18g.33744419G>TCA402191215ASXL3c.4574G>T (p.Arg1525Met)
c.4571G>T (p.Arg1524Met)
c.4451G>T (p.Arg1484Met)
c.4547G>T (p.Arg1516Met)
c.4493G>T (p.Arg1498Met)
c.4454G>T (p.Arg1485Met)
c.4403G>T (p.Arg1468Met)
c.1535G>T (p.Arg512Met)
18g.33744420G>ACA503770688ASXL3c.4575G>A (p.Arg1525=)
c.4572G>A (p.Arg1524=)
c.4452G>A (p.Arg1484=)
c.4548G>A (p.Arg1516=)
c.4494G>A (p.Arg1498=)
c.4455G>A (p.Arg1485=)
c.4404G>A (p.Arg1468=)
c.1536G>A (p.Arg512=)
18g.33744420G>CCA402191216ASXL3c.4575G>C (p.Arg1525Ser)
c.4572G>C (p.Arg1524Ser)
c.4452G>C (p.Arg1484Ser)
c.4548G>C (p.Arg1516Ser)
c.4494G>C (p.Arg1498Ser)
c.4455G>C (p.Arg1485Ser)
c.4404G>C (p.Arg1468Ser)
c.1536G>C (p.Arg512Ser)
18g.33744420G>TCA402191217ASXL3c.4575G>T (p.Arg1525Ser)
c.4572G>T (p.Arg1524Ser)
c.4452G>T (p.Arg1484Ser)
c.4548G>T (p.Arg1516Ser)
c.4494G>T (p.Arg1498Ser)
c.4455G>T (p.Arg1485Ser)
c.4404G>T (p.Arg1468Ser)
c.1536G>T (p.Arg512Ser)
 gnomAD v4
18g.33744421C>ACA402191220ASXL3c.4576C>A (p.Pro1526Thr)
c.4573C>A (p.Pro1525Thr)
c.4453C>A (p.Pro1485Thr)
c.4549C>A (p.Pro1517Thr)
c.4495C>A (p.Pro1499Thr)
c.4456C>A (p.Pro1486Thr)
c.4405C>A (p.Pro1469Thr)
c.1537C>A (p.Pro513Thr)
18g.33744421C=CA2294858125ASXL3c.4576C= (p.Pro1526=)
c.4573C= (p.Pro1525=)
c.4453C= (p.Pro1485=)
c.4549C= (p.Pro1517=)
c.4495C= (p.Pro1499=)
c.4456C= (p.Pro1486=)
c.4405C= (p.Pro1469=)
c.1537C= (p.Pro513=)
18g.33744421C>GCA402191219ASXL3c.4576C>G (p.Pro1526Ala)
c.4573C>G (p.Pro1525Ala)
c.4453C>G (p.Pro1485Ala)
c.4549C>G (p.Pro1517Ala)
c.4495C>G (p.Pro1499Ala)
c.4456C>G (p.Pro1486Ala)
c.4405C>G (p.Pro1469Ala)
c.1537C>G (p.Pro513Ala)
18g.33744421C>TCA402191218ASXL3c.4576C>T (p.Pro1526Ser)
c.4573C>T (p.Pro1525Ser)
c.4453C>T (p.Pro1485Ser)
c.4549C>T (p.Pro1517Ser)
c.4495C>T (p.Pro1499Ser)
c.4456C>T (p.Pro1486Ser)
c.4405C>T (p.Pro1469Ser)
c.1537C>T (p.Pro513Ser)
 dbSNP gnomAD v4
18g.33744422C>ACA402191221ASXL3c.4577C>A (p.Pro1526His)
c.4574C>A (p.Pro1525His)
c.4454C>A (p.Pro1485His)
c.4550C>A (p.Pro1517His)
c.4496C>A (p.Pro1499His)
c.4457C>A (p.Pro1486His)
c.4406C>A (p.Pro1469His)
c.1538C>A (p.Pro513His)
18g.33744422C=CA2294858126ASXL3c.4577C= (p.Pro1526=)
c.4574C= (p.Pro1525=)
c.4454C= (p.Pro1485=)
c.4550C= (p.Pro1517=)
c.4496C= (p.Pro1499=)
c.4457C= (p.Pro1486=)
c.4406C= (p.Pro1469=)
c.1538C= (p.Pro513=)
18g.33744422C>GCA297793671ASXL3c.4577C>G (p.Pro1526Arg)
c.4574C>G (p.Pro1525Arg)
c.4454C>G (p.Pro1485Arg)
c.4550C>G (p.Pro1517Arg)
c.4496C>G (p.Pro1499Arg)
c.4457C>G (p.Pro1486Arg)
c.4406C>G (p.Pro1469Arg)
c.1538C>G (p.Pro513Arg)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
18g.33744422C>TCA402191222ASXL3c.4577C>T (p.Pro1526Leu)
c.4574C>T (p.Pro1525Leu)
c.4454C>T (p.Pro1485Leu)
c.4550C>T (p.Pro1517Leu)
c.4496C>T (p.Pro1499Leu)
c.4457C>T (p.Pro1486Leu)
c.4406C>T (p.Pro1469Leu)
c.1538C>T (p.Pro513Leu)
18g.33744423T>ACA503770694ASXL3c.4578T>A (p.Pro1526=)
c.4575T>A (p.Pro1525=)
c.4455T>A (p.Pro1485=)
c.4551T>A (p.Pro1517=)
c.4497T>A (p.Pro1499=)
c.4458T>A (p.Pro1486=)
c.4407T>A (p.Pro1469=)
c.1539T>A (p.Pro513=)
18g.33744423T>CCA503770696ASXL3c.4578T>C (p.Pro1526=)
c.4575T>C (p.Pro1525=)
c.4455T>C (p.Pro1485=)
c.4551T>C (p.Pro1517=)
c.4497T>C (p.Pro1499=)
c.4458T>C (p.Pro1486=)
c.4407T>C (p.Pro1469=)
c.1539T>C (p.Pro513=)
18g.33744423T>GCA503770698ASXL3c.4578T>G (p.Pro1526=)
c.4575T>G (p.Pro1525=)
c.4455T>G (p.Pro1485=)
c.4551T>G (p.Pro1517=)
c.4497T>G (p.Pro1499=)
c.4458T>G (p.Pro1486=)
c.4407T>G (p.Pro1469=)
c.1539T>G (p.Pro513=)
18g.33744424G>ACA402191223ASXL3c.4579G>A (p.Glu1527Lys)
c.4576G>A (p.Glu1526Lys)
c.4456G>A (p.Glu1486Lys)
c.4552G>A (p.Glu1518Lys)
c.4498G>A (p.Glu1500Lys)
c.4459G>A (p.Glu1487Lys)
c.4408G>A (p.Glu1470Lys)
c.1540G>A (p.Glu514Lys)
18g.33744424G>CCA402191224ASXL3c.4579G>C (p.Glu1527Gln)
c.4576G>C (p.Glu1526Gln)
c.4456G>C (p.Glu1486Gln)
c.4552G>C (p.Glu1518Gln)
c.4498G>C (p.Glu1500Gln)
c.4459G>C (p.Glu1487Gln)
c.4408G>C (p.Glu1470Gln)
c.1540G>C (p.Glu514Gln)
18g.33744424G>TCA402191225ASXL3c.4579G>T (p.Glu1527Ter)
c.4576G>T (p.Glu1526Ter)
c.4456G>T (p.Glu1486Ter)
c.4552G>T (p.Glu1518Ter)
c.4498G>T (p.Glu1500Ter)
c.4459G>T (p.Glu1487Ter)
c.4408G>T (p.Glu1470Ter)
c.1540G>T (p.Glu514Ter)
18g.33744425A>CCA402191226ASXL3c.4580A>C (p.Glu1527Ala)
c.4577A>C (p.Glu1526Ala)
c.4457A>C (p.Glu1486Ala)
c.4553A>C (p.Glu1518Ala)
c.4499A>C (p.Glu1500Ala)
c.4460A>C (p.Glu1487Ala)
c.4409A>C (p.Glu1470Ala)
c.1541A>C (p.Glu514Ala)
18g.33744425A>GCA402191227ASXL3c.4580A>G (p.Glu1527Gly)
c.4577A>G (p.Glu1526Gly)
c.4457A>G (p.Glu1486Gly)
c.4553A>G (p.Glu1518Gly)
c.4499A>G (p.Glu1500Gly)
c.4460A>G (p.Glu1487Gly)
c.4409A>G (p.Glu1470Gly)
c.1541A>G (p.Glu514Gly)
18g.33744425A>TCA402191228ASXL3c.4580A>T (p.Glu1527Val)
c.4577A>T (p.Glu1526Val)
c.4457A>T (p.Glu1486Val)
c.4553A>T (p.Glu1518Val)
c.4499A>T (p.Glu1500Val)
c.4460A>T (p.Glu1487Val)
c.4409A>T (p.Glu1470Val)
c.1541A>T (p.Glu514Val)
18g.33744426G>ACA503770699ASXL3c.4581G>A (p.Glu1527=)
c.4578G>A (p.Glu1526=)
c.4458G>A (p.Glu1486=)
c.4554G>A (p.Glu1518=)
c.4500G>A (p.Glu1500=)
c.4461G>A (p.Glu1487=)
c.4410G>A (p.Glu1470=)
c.1542G>A (p.Glu514=)
 dbSNP gnomAD v3 gnomAD v4
18g.33744426G>CCA402191229ASXL3c.4581G>C (p.Glu1527Asp)
c.4578G>C (p.Glu1526Asp)
c.4458G>C (p.Glu1486Asp)
c.4554G>C (p.Glu1518Asp)
c.4500G>C (p.Glu1500Asp)
c.4461G>C (p.Glu1487Asp)
c.4410G>C (p.Glu1470Asp)
c.1542G>C (p.Glu514Asp)
18g.33744426G=CA2294858127ASXL3c.4581G= (p.Glu1527=)
c.4578G= (p.Glu1526=)
c.4458G= (p.Glu1486=)
c.4554G= (p.Glu1518=)
c.4500G= (p.Glu1500=)
c.4461G= (p.Glu1487=)
c.4410G= (p.Glu1470=)
c.1542G= (p.Glu514=)
18g.33744426G>TCA402191230ASXL3c.4581G>T (p.Glu1527Asp)
c.4578G>T (p.Glu1526Asp)
c.4458G>T (p.Glu1486Asp)
c.4554G>T (p.Glu1518Asp)
c.4500G>T (p.Glu1500Asp)
c.4461G>T (p.Glu1487Asp)
c.4410G>T (p.Glu1470Asp)
c.1542G>T (p.Glu514Asp)
18g.33744427C>ACA402191231ASXL3c.4582C>A (p.Pro1528Thr)
c.4579C>A (p.Pro1527Thr)
c.4459C>A (p.Pro1487Thr)
c.4555C>A (p.Pro1519Thr)
c.4501C>A (p.Pro1501Thr)
c.4462C>A (p.Pro1488Thr)
c.4411C>A (p.Pro1471Thr)
c.1543C>A (p.Pro515Thr)
18g.33744427C>GCA402191232ASXL3c.4582C>G (p.Pro1528Ala)
c.4579C>G (p.Pro1527Ala)
c.4459C>G (p.Pro1487Ala)
c.4555C>G (p.Pro1519Ala)
c.4501C>G (p.Pro1501Ala)
c.4462C>G (p.Pro1488Ala)
c.4411C>G (p.Pro1471Ala)
c.1543C>G (p.Pro515Ala)
18g.33744427C>TCA402191233ASXL3c.4582C>T (p.Pro1528Ser)
c.4579C>T (p.Pro1527Ser)
c.4459C>T (p.Pro1487Ser)
c.4555C>T (p.Pro1519Ser)
c.4501C>T (p.Pro1501Ser)
c.4462C>T (p.Pro1488Ser)
c.4411C>T (p.Pro1471Ser)
c.1543C>T (p.Pro515Ser)
 gnomAD v4
18g.33744428C>ACA402191235ASXL3c.4583C>A (p.Pro1528Gln)
c.4580C>A (p.Pro1527Gln)
c.4460C>A (p.Pro1487Gln)
c.4556C>A (p.Pro1519Gln)
c.4502C>A (p.Pro1501Gln)
c.4463C>A (p.Pro1488Gln)
c.4412C>A (p.Pro1471Gln)
c.1544C>A (p.Pro515Gln)
18g.33744428C=CA2294858128ASXL3c.4583C= (p.Pro1528=)
c.4580C= (p.Pro1527=)
c.4460C= (p.Pro1487=)
c.4556C= (p.Pro1519=)
c.4502C= (p.Pro1501=)
c.4463C= (p.Pro1488=)
c.4412C= (p.Pro1471=)
c.1544C= (p.Pro515=)
18g.33744428C>GCA402191236ASXL3c.4583C>G (p.Pro1528Arg)
c.4580C>G (p.Pro1527Arg)
c.4460C>G (p.Pro1487Arg)
c.4556C>G (p.Pro1519Arg)
c.4502C>G (p.Pro1501Arg)
c.4463C>G (p.Pro1488Arg)
c.4412C>G (p.Pro1471Arg)
c.1544C>G (p.Pro515Arg)
18g.33744428C>TCA402191234ASXL3c.4583C>T (p.Pro1528Leu)
c.4580C>T (p.Pro1527Leu)
c.4460C>T (p.Pro1487Leu)
c.4556C>T (p.Pro1519Leu)
c.4502C>T (p.Pro1501Leu)
c.4463C>T (p.Pro1488Leu)
c.4412C>T (p.Pro1471Leu)
c.1544C>T (p.Pro515Leu)
 ClinVar dbSNP
18g.33744429A=CA2294858129ASXL3c.4584A= (p.Pro1528=)
c.4581A= (p.Pro1527=)
c.4461A= (p.Pro1487=)
c.4557A= (p.Pro1519=)
c.4503A= (p.Pro1501=)
c.4464A= (p.Pro1488=)
c.4413A= (p.Pro1471=)
c.1545A= (p.Pro515=)
18g.33744429A>CCA297793674ASXL3c.4584A>C (p.Pro1528=)
c.4581A>C (p.Pro1527=)
c.4461A>C (p.Pro1487=)
c.4557A>C (p.Pro1519=)
c.4503A>C (p.Pro1501=)
c.4464A>C (p.Pro1488=)
c.4413A>C (p.Pro1471=)
c.1545A>C (p.Pro515=)
 dbSNP
18g.33744429A>GCA503770705ASXL3c.4584A>G (p.Pro1528=)
c.4581A>G (p.Pro1527=)
c.4461A>G (p.Pro1487=)
c.4557A>G (p.Pro1519=)
c.4503A>G (p.Pro1501=)
c.4464A>G (p.Pro1488=)
c.4413A>G (p.Pro1471=)
c.1545A>G (p.Pro515=)
18g.33744429A>TCA503770707ASXL3c.4584A>T (p.Pro1528=)
c.4581A>T (p.Pro1527=)
c.4461A>T (p.Pro1487=)
c.4557A>T (p.Pro1519=)
c.4503A>T (p.Pro1501=)
c.4464A>T (p.Pro1488=)
c.4413A>T (p.Pro1471=)
c.1545A>T (p.Pro515=)
18g.33744430G>ACA402191237ASXL3c.4585G>A (p.Val1529Ile)
c.4582G>A (p.Val1528Ile)
c.4462G>A (p.Val1488Ile)
c.4558G>A (p.Val1520Ile)
c.4504G>A (p.Val1502Ile)
c.4465G>A (p.Val1489Ile)
c.4414G>A (p.Val1472Ile)
c.1546G>A (p.Val516Ile)
 dbSNP gnomAD v2 gnomAD v4
18g.33744430G>CCA402191238ASXL3c.4585G>C (p.Val1529Leu)
c.4582G>C (p.Val1528Leu)
c.4462G>C (p.Val1488Leu)
c.4558G>C (p.Val1520Leu)
c.4504G>C (p.Val1502Leu)
c.4465G>C (p.Val1489Leu)
c.4414G>C (p.Val1472Leu)
c.1546G>C (p.Val516Leu)
 dbSNP gnomAD v2 gnomAD v4
18g.33744430G=CA2294858130ASXL3c.4585G= (p.Val1529=)
c.4582G= (p.Val1528=)
c.4462G= (p.Val1488=)
c.4558G= (p.Val1520=)
c.4504G= (p.Val1502=)
c.4465G= (p.Val1489=)
c.4414G= (p.Val1472=)
c.1546G= (p.Val516=)
18g.33744430G>TCA402191239ASXL3c.4585G>T (p.Val1529Phe)
c.4582G>T (p.Val1528Phe)
c.4462G>T (p.Val1488Phe)
c.4558G>T (p.Val1520Phe)
c.4504G>T (p.Val1502Phe)
c.4465G>T (p.Val1489Phe)
c.4414G>T (p.Val1472Phe)
c.1546G>T (p.Val516Phe)
18g.33744431T>ACA402191240ASXL3c.4586T>A (p.Val1529Asp)
c.4583T>A (p.Val1528Asp)
c.4463T>A (p.Val1488Asp)
c.4559T>A (p.Val1520Asp)
c.4505T>A (p.Val1502Asp)
c.4466T>A (p.Val1489Asp)
c.4415T>A (p.Val1472Asp)
c.1547T>A (p.Val516Asp)
 gnomAD v4
18g.33744431T>CCA402191241ASXL3c.4586T>C (p.Val1529Ala)
c.4583T>C (p.Val1528Ala)
c.4463T>C (p.Val1488Ala)
c.4559T>C (p.Val1520Ala)
c.4505T>C (p.Val1502Ala)
c.4466T>C (p.Val1489Ala)
c.4415T>C (p.Val1472Ala)
c.1547T>C (p.Val516Ala)
18g.33744431T>GCA402191242ASXL3c.4586T>G (p.Val1529Gly)
c.4583T>G (p.Val1528Gly)
c.4463T>G (p.Val1488Gly)
c.4559T>G (p.Val1520Gly)
c.4505T>G (p.Val1502Gly)
c.4466T>G (p.Val1489Gly)
c.4415T>G (p.Val1472Gly)
c.1547T>G (p.Val516Gly)
18g.33744432T>ACA503770710ASXL3c.4587T>A (p.Val1529=)
c.4584T>A (p.Val1528=)
c.4464T>A (p.Val1488=)
c.4560T>A (p.Val1520=)
c.4506T>A (p.Val1502=)
c.4467T>A (p.Val1489=)
c.4416T>A (p.Val1472=)
c.1548T>A (p.Val516=)
18g.33744432T>CCA503770711ASXL3c.4587T>C (p.Val1529=)
c.4584T>C (p.Val1528=)
c.4464T>C (p.Val1488=)
c.4560T>C (p.Val1520=)
c.4506T>C (p.Val1502=)
c.4467T>C (p.Val1489=)
c.4416T>C (p.Val1472=)
c.1548T>C (p.Val516=)
 gnomAD v4
18g.33744432T>GCA503770712ASXL3c.4587T>G (p.Val1529=)
c.4584T>G (p.Val1528=)
c.4464T>G (p.Val1488=)
c.4560T>G (p.Val1520=)
c.4506T>G (p.Val1502=)
c.4467T>G (p.Val1489=)
c.4416T>G (p.Val1472=)
c.1548T>G (p.Val516=)
18g.33744433G>ACA402191243ASXL3c.4588G>A (p.Ala1530Thr)
c.4585G>A (p.Ala1529Thr)
c.4465G>A (p.Ala1489Thr)
c.4561G>A (p.Ala1521Thr)
c.4507G>A (p.Ala1503Thr)
c.4468G>A (p.Ala1490Thr)
c.4417G>A (p.Ala1473Thr)
c.1549G>A (p.Ala517Thr)
18g.33744433G>CCA402191244ASXL3c.4588G>C (p.Ala1530Pro)
c.4585G>C (p.Ala1529Pro)
c.4465G>C (p.Ala1489Pro)
c.4561G>C (p.Ala1521Pro)
c.4507G>C (p.Ala1503Pro)
c.4468G>C (p.Ala1490Pro)
c.4417G>C (p.Ala1473Pro)
c.1549G>C (p.Ala517Pro)
18g.33744433G=CA2294858131ASXL3c.4588G= (p.Ala1530=)
c.4585G= (p.Ala1529=)
c.4465G= (p.Ala1489=)
c.4561G= (p.Ala1521=)
c.4507G= (p.Ala1503=)
c.4468G= (p.Ala1490=)
c.4417G= (p.Ala1473=)
c.1549G= (p.Ala517=)
18g.33744433G>TCA402191245ASXL3c.4588G>T (p.Ala1530Ser)
c.4585G>T (p.Ala1529Ser)
c.4465G>T (p.Ala1489Ser)
c.4561G>T (p.Ala1521Ser)
c.4507G>T (p.Ala1503Ser)
c.4468G>T (p.Ala1490Ser)
c.4417G>T (p.Ala1473Ser)
c.1549G>T (p.Ala517Ser)
 dbSNP
18g.33744434C>ACA402191246ASXL3c.4589C>A (p.Ala1530Asp)
c.4586C>A (p.Ala1529Asp)
c.4466C>A (p.Ala1489Asp)
c.4562C>A (p.Ala1521Asp)
c.4508C>A (p.Ala1503Asp)
c.4469C>A (p.Ala1490Asp)
c.4418C>A (p.Ala1473Asp)
c.1550C>A (p.Ala517Asp)
18g.33744434C=CA2294858132ASXL3c.4589C= (p.Ala1530=)
c.4586C= (p.Ala1529=)
c.4466C= (p.Ala1489=)
c.4562C= (p.Ala1521=)
c.4508C= (p.Ala1503=)
c.4469C= (p.Ala1490=)
c.4418C= (p.Ala1473=)
c.1550C= (p.Ala517=)
18g.33744434C>GCA402191247ASXL3c.4589C>G (p.Ala1530Gly)
c.4586C>G (p.Ala1529Gly)
c.4466C>G (p.Ala1489Gly)
c.4562C>G (p.Ala1521Gly)
c.4508C>G (p.Ala1503Gly)
c.4469C>G (p.Ala1490Gly)
c.4418C>G (p.Ala1473Gly)
c.1550C>G (p.Ala517Gly)
 dbSNP gnomAD v3 gnomAD v4
18g.33744434C>TCA402191248ASXL3c.4589C>T (p.Ala1530Val)
c.4586C>T (p.Ala1529Val)
c.4466C>T (p.Ala1489Val)
c.4562C>T (p.Ala1521Val)
c.4508C>T (p.Ala1503Val)
c.4469C>T (p.Ala1490Val)
c.4418C>T (p.Ala1473Val)
c.1550C>T (p.Ala517Val)
 ClinVar
18g.33744435C>ACA503770715ASXL3c.4590C>A (p.Ala1530=)
c.4587C>A (p.Ala1529=)
c.4467C>A (p.Ala1489=)
c.4563C>A (p.Ala1521=)
c.4509C>A (p.Ala1503=)
c.4470C>A (p.Ala1490=)
c.4419C>A (p.Ala1473=)
c.1551C>A (p.Ala517=)
18g.33744435C>GCA503770716ASXL3c.4590C>G (p.Ala1530=)
c.4587C>G (p.Ala1529=)
c.4467C>G (p.Ala1489=)
c.4563C>G (p.Ala1521=)
c.4509C>G (p.Ala1503=)
c.4470C>G (p.Ala1490=)
c.4419C>G (p.Ala1473=)
c.1551C>G (p.Ala517=)
18g.33744435C>TCA503770717ASXL3c.4590C>T (p.Ala1530=)
c.4587C>T (p.Ala1529=)
c.4467C>T (p.Ala1489=)
c.4563C>T (p.Ala1521=)
c.4509C>T (p.Ala1503=)
c.4470C>T (p.Ala1490=)
c.4419C>T (p.Ala1473=)
c.1551C>T (p.Ala517=)
18g.33744436A>CCA402191251ASXL3c.4591A>C (p.Asn1531His)
c.4588A>C (p.Asn1530His)
c.4468A>C (p.Asn1490His)
c.4564A>C (p.Asn1522His)
c.4510A>C (p.Asn1504His)
c.4471A>C (p.Asn1491His)
c.4420A>C (p.Asn1474His)
c.1552A>C (p.Asn518His)
18g.33744436A>GCA402191249ASXL3c.4591A>G (p.Asn1531Asp)
c.4588A>G (p.Asn1530Asp)
c.4468A>G (p.Asn1490Asp)
c.4564A>G (p.Asn1522Asp)
c.4510A>G (p.Asn1504Asp)
c.4471A>G (p.Asn1491Asp)
c.4420A>G (p.Asn1474Asp)
c.1552A>G (p.Asn518Asp)
18g.33744436A>TCA402191250ASXL3c.4591A>T (p.Asn1531Tyr)
c.4588A>T (p.Asn1530Tyr)
c.4468A>T (p.Asn1490Tyr)
c.4564A>T (p.Asn1522Tyr)
c.4510A>T (p.Asn1504Tyr)
c.4471A>T (p.Asn1491Tyr)
c.4420A>T (p.Asn1474Tyr)
c.1552A>T (p.Asn518Tyr)
18g.33744437A=CA2294858133ASXL3c.4592A= (p.Asn1531=)
c.4589A= (p.Asn1530=)
c.4469A= (p.Asn1490=)
c.4565A= (p.Asn1522=)
c.4511A= (p.Asn1504=)
c.4472A= (p.Asn1491=)
c.4421A= (p.Asn1474=)
c.1553A= (p.Asn518=)
18g.33744437A>CCA402191252ASXL3c.4592A>C (p.Asn1531Thr)
c.4589A>C (p.Asn1530Thr)
c.4469A>C (p.Asn1490Thr)
c.4565A>C (p.Asn1522Thr)
c.4511A>C (p.Asn1504Thr)
c.4472A>C (p.Asn1491Thr)
c.4421A>C (p.Asn1474Thr)
c.1553A>C (p.Asn518Thr)
18g.33744437A>GCA8934289ASXL3c.4592A>G (p.Asn1531Ser)
c.4589A>G (p.Asn1530Ser)
c.4469A>G (p.Asn1490Ser)
c.4565A>G (p.Asn1522Ser)
c.4511A>G (p.Asn1504Ser)
c.4472A>G (p.Asn1491Ser)
c.4421A>G (p.Asn1474Ser)
c.1553A>G (p.Asn518Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744437A>TCA402191253ASXL3c.4592A>T (p.Asn1531Ile)
c.4589A>T (p.Asn1530Ile)
c.4469A>T (p.Asn1490Ile)
c.4565A>T (p.Asn1522Ile)
c.4511A>T (p.Asn1504Ile)
c.4472A>T (p.Asn1491Ile)
c.4421A>T (p.Asn1474Ile)
c.1553A>T (p.Asn518Ile)
18g.33744437_33744438insTCCTCCACCA2812055545ASXL3c.4592_4593insTCCTCCAC (p.Glu1532ProfsTer6)
c.4589_4590insTCCTCCAC (p.Glu1531ProfsTer6)
c.4469_4470insTCCTCCAC (p.Glu1491ProfsTer6)
c.4565_4566insTCCTCCAC (p.Glu1523ProfsTer6)
c.4511_4512insTCCTCCAC (p.Glu1505ProfsTer6)
c.4472_4473insTCCTCCAC (p.Glu1492ProfsTer6)
c.4421_4422insTCCTCCAC (p.Glu1475ProfsTer6)
c.1553_1554insTCCTCCAC (p.Glu519ProfsTer6)
18g.33744437_33744438insTCCTCCACCGTCTCACCCTGAGACTGCTGCGGCTCACGCTGACGCTTACGGTACAAATTGATGTACGTATTCGTCAGGATGCGGTACAGCCACGCCTTCAGGTTCGTACCA2812055544ASXL3c.4592_4593insTCCTCCACCGTCTCACCCTGAGACTGCTGCGGCTCACGCTGACGCTTACGGTACAAATTGATGTACGTATTCGTCAGGATGCGGTACAGCCACGCCTTCAGGTTCGTAC (p.Glu1532ProfsTer20)
c.4589_4590insTCCTCCACCGTCTCACCCTGAGACTGCTGCGGCTCACGCTGACGCTTACGGTACAAATTGATGTACGTATTCGTCAGGATGCGGTACAGCCACGCCTTCAGGTTCGTAC (p.Glu1531ProfsTer20)
c.4469_4470insTCCTCCACCGTCTCACCCTGAGACTGCTGCGGCTCACGCTGACGCTTACGGTACAAATTGATGTACGTATTCGTCAGGATGCGGTACAGCCACGCCTTCAGGTTCGTAC (p.Glu1491ProfsTer20)
c.4565_4566insTCCTCCACCGTCTCACCCTGAGACTGCTGCGGCTCACGCTGACGCTTACGGTACAAATTGATGTACGTATTCGTCAGGATGCGGTACAGCCACGCCTTCAGGTTCGTAC (p.Glu1523ProfsTer20)
c.4511_4512insTCCTCCACCGTCTCACCCTGAGACTGCTGCGGCTCACGCTGACGCTTACGGTACAAATTGATGTACGTATTCGTCAGGATGCGGTACAGCCACGCCTTCAGGTTCGTAC (p.Glu1505ProfsTer20)
c.4472_4473insTCCTCCACCGTCTCACCCTGAGACTGCTGCGGCTCACGCTGACGCTTACGGTACAAATTGATGTACGTATTCGTCAGGATGCGGTACAGCCACGCCTTCAGGTTCGTAC (p.Glu1492ProfsTer20)
c.4421_4422insTCCTCCACCGTCTCACCCTGAGACTGCTGCGGCTCACGCTGACGCTTACGGTACAAATTGATGTACGTATTCGTCAGGATGCGGTACAGCCACGCCTTCAGGTTCGTAC (p.Glu1475ProfsTer20)
c.1553_1554insTCCTCCACCGTCTCACCCTGAGACTGCTGCGGCTCACGCTGACGCTTACGGTACAAATTGATGTACGTATTCGTCAGGATGCGGTACAGCCACGCCTTCAGGTTCGTAC (p.Glu519ProfsTer20)
18g.33744438C>ACA402191254ASXL3c.4593C>A (p.Asn1531Lys)
c.4590C>A (p.Asn1530Lys)
c.4470C>A (p.Asn1490Lys)
c.4566C>A (p.Asn1522Lys)
c.4512C>A (p.Asn1504Lys)
c.4473C>A (p.Asn1491Lys)
c.4422C>A (p.Asn1474Lys)
c.1554C>A (p.Asn518Lys)
18g.33744438C=CA2294858134ASXL3c.4593C= (p.Asn1531=)
c.4590C= (p.Asn1530=)
c.4470C= (p.Asn1490=)
c.4566C= (p.Asn1522=)
c.4512C= (p.Asn1504=)
c.4473C= (p.Asn1491=)
c.4422C= (p.Asn1474=)
c.1554C= (p.Asn518=)
18g.33744438C>GCA8934291ASXL3c.4593C>G (p.Asn1531Lys)
c.4590C>G (p.Asn1530Lys)
c.4470C>G (p.Asn1490Lys)
c.4566C>G (p.Asn1522Lys)
c.4512C>G (p.Asn1504Lys)
c.4473C>G (p.Asn1491Lys)
c.4422C>G (p.Asn1474Lys)
c.1554C>G (p.Asn518Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744438C>TCA8934290ASXL3c.4593C>T (p.Asn1531=)
c.4590C>T (p.Asn1530=)
c.4470C>T (p.Asn1490=)
c.4566C>T (p.Asn1522=)
c.4512C>T (p.Asn1504=)
c.4473C>T (p.Asn1491=)
c.4422C>T (p.Asn1474=)
c.1554C>T (p.Asn518=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744439G>ACA297793685ASXL3c.4594G>A (p.Glu1532Lys)
c.4591G>A (p.Glu1531Lys)
c.4471G>A (p.Glu1491Lys)
c.4567G>A (p.Glu1523Lys)
c.4513G>A (p.Glu1505Lys)
c.4474G>A (p.Glu1492Lys)
c.4423G>A (p.Glu1475Lys)
c.1555G>A (p.Glu519Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.33744439G>CCA402191255ASXL3c.4594G>C (p.Glu1532Gln)
c.4591G>C (p.Glu1531Gln)
c.4471G>C (p.Glu1491Gln)
c.4567G>C (p.Glu1523Gln)
c.4513G>C (p.Glu1505Gln)
c.4474G>C (p.Glu1492Gln)
c.4423G>C (p.Glu1475Gln)
c.1555G>C (p.Glu519Gln)
18g.33744439G=CA2294858135ASXL3c.4594G= (p.Glu1532=)
c.4591G= (p.Glu1531=)
c.4471G= (p.Glu1491=)
c.4567G= (p.Glu1523=)
c.4513G= (p.Glu1505=)
c.4474G= (p.Glu1492=)
c.4423G= (p.Glu1475=)
c.1555G= (p.Glu519=)
18g.33744439G>TCA402191256ASXL3c.4594G>T (p.Glu1532Ter)
c.4591G>T (p.Glu1531Ter)
c.4471G>T (p.Glu1491Ter)
c.4567G>T (p.Glu1523Ter)
c.4513G>T (p.Glu1505Ter)
c.4474G>T (p.Glu1492Ter)
c.4423G>T (p.Glu1475Ter)
c.1555G>T (p.Glu519Ter)
18g.33744439_33744440insTCTCACCCTGAGACTGCTGCGGCTCACGCTGACGCTTACGGTACCA2812055548ASXL3c.4594_4595insTCTCACCCTGAGACTGCTGCGGCTCACGCTGACGCTTACGGTAC (p.Glu1532ValfsTer4)
c.4591_4592insTCTCACCCTGAGACTGCTGCGGCTCACGCTGACGCTTACGGTAC (p.Glu1531ValfsTer4)
c.4471_4472insTCTCACCCTGAGACTGCTGCGGCTCACGCTGACGCTTACGGTAC (p.Glu1491ValfsTer4)
c.4567_4568insTCTCACCCTGAGACTGCTGCGGCTCACGCTGACGCTTACGGTAC (p.Glu1523ValfsTer4)
c.4513_4514insTCTCACCCTGAGACTGCTGCGGCTCACGCTGACGCTTACGGTAC (p.Glu1505ValfsTer4)
c.4474_4475insTCTCACCCTGAGACTGCTGCGGCTCACGCTGACGCTTACGGTAC (p.Glu1492ValfsTer4)
c.4423_4424insTCTCACCCTGAGACTGCTGCGGCTCACGCTGACGCTTACGGTAC (p.Glu1475ValfsTer4)
c.1555_1556insTCTCACCCTGAGACTGCTGCGGCTCACGCTGACGCTTACGGTAC (p.Glu519ValfsTer4)
18g.33744440A>CCA402191257ASXL3c.4595A>C (p.Glu1532Ala)
c.4592A>C (p.Glu1531Ala)
c.4472A>C (p.Glu1491Ala)
c.4568A>C (p.Glu1523Ala)
c.4514A>C (p.Glu1505Ala)
c.4475A>C (p.Glu1492Ala)
c.4424A>C (p.Glu1475Ala)
c.1556A>C (p.Glu519Ala)
18g.33744440A>GCA402191258ASXL3c.4595A>G (p.Glu1532Gly)
c.4592A>G (p.Glu1531Gly)
c.4472A>G (p.Glu1491Gly)
c.4568A>G (p.Glu1523Gly)
c.4514A>G (p.Glu1505Gly)
c.4475A>G (p.Glu1492Gly)
c.4424A>G (p.Glu1475Gly)
c.1556A>G (p.Glu519Gly)
 gnomAD v4
18g.33744440A>TCA402191259ASXL3c.4595A>T (p.Glu1532Val)
c.4592A>T (p.Glu1531Val)
c.4472A>T (p.Glu1491Val)
c.4568A>T (p.Glu1523Val)
c.4514A>T (p.Glu1505Val)
c.4475A>T (p.Glu1492Val)
c.4424A>T (p.Glu1475Val)
c.1556A>T (p.Glu519Val)
18g.33744441A=CA2294858136ASXL3c.4596A= (p.Glu1532=)
c.4593A= (p.Glu1531=)
c.4473A= (p.Glu1491=)
c.4569A= (p.Glu1523=)
c.4515A= (p.Glu1505=)
c.4476A= (p.Glu1492=)
c.4425A= (p.Glu1475=)
c.1557A= (p.Glu519=)
18g.33744441A>CCA402191260ASXL3c.4596A>C (p.Glu1532Asp)
c.4593A>C (p.Glu1531Asp)
c.4473A>C (p.Glu1491Asp)
c.4569A>C (p.Glu1523Asp)
c.4515A>C (p.Glu1505Asp)
c.4476A>C (p.Glu1492Asp)
c.4425A>C (p.Glu1475Asp)
c.1557A>C (p.Glu519Asp)
 dbSNP gnomAD v3 gnomAD v4
18g.33744441A>GCA503770726ASXL3c.4596A>G (p.Glu1532=)
c.4593A>G (p.Glu1531=)
c.4473A>G (p.Glu1491=)
c.4569A>G (p.Glu1523=)
c.4515A>G (p.Glu1505=)
c.4476A>G (p.Glu1492=)
c.4425A>G (p.Glu1475=)
c.1557A>G (p.Glu519=)
18g.33744441A>TCA402191261ASXL3c.4596A>T (p.Glu1532Asp)
c.4593A>T (p.Glu1531Asp)
c.4473A>T (p.Glu1491Asp)
c.4569A>T (p.Glu1523Asp)
c.4515A>T (p.Glu1505Asp)
c.4476A>T (p.Glu1492Asp)
c.4425A>T (p.Glu1475Asp)
c.1557A>T (p.Glu519Asp)
18g.33744441_33744442insATTGATGTACGTATTCGTCAGGATCA2812055551ASXL3c.4596_4597insATTGATGTACGTATTCGTCAGGAT (p.Glu1532_Gly1533insIleAspValArgIleArgGlnAsp)
c.4593_4594insATTGATGTACGTATTCGTCAGGAT (p.Glu1531_Gly1532insIleAspValArgIleArgGlnAsp)
c.4473_4474insATTGATGTACGTATTCGTCAGGAT (p.Glu1491_Gly1492insIleAspValArgIleArgGlnAsp)
c.4569_4570insATTGATGTACGTATTCGTCAGGAT (p.Glu1523_Gly1524insIleAspValArgIleArgGlnAsp)
c.4515_4516insATTGATGTACGTATTCGTCAGGAT (p.Glu1505_Gly1506insIleAspValArgIleArgGlnAsp)
c.4476_4477insATTGATGTACGTATTCGTCAGGAT (p.Glu1492_Gly1493insIleAspValArgIleArgGlnAsp)
c.4425_4426insATTGATGTACGTATTCGTCAGGAT (p.Glu1475_Gly1476insIleAspValArgIleArgGlnAsp)
c.1557_1558insATTGATGTACGTATTCGTCAGGAT (p.Glu519_Gly520insIleAspValArgIleArgGlnAsp)
18g.33744442G>ACA402191262ASXL3c.4597G>A (p.Gly1533Ser)
c.4594G>A (p.Gly1532Ser)
c.4474G>A (p.Gly1492Ser)
c.4570G>A (p.Gly1524Ser)
c.4516G>A (p.Gly1506Ser)
c.4477G>A (p.Gly1493Ser)
c.4426G>A (p.Gly1476Ser)
c.1558G>A (p.Gly520Ser)
 ClinVar
18g.33744442G>CCA402191264ASXL3c.4597G>C (p.Gly1533Arg)
c.4594G>C (p.Gly1532Arg)
c.4474G>C (p.Gly1492Arg)
c.4570G>C (p.Gly1524Arg)
c.4516G>C (p.Gly1506Arg)
c.4477G>C (p.Gly1493Arg)
c.4426G>C (p.Gly1476Arg)
c.1558G>C (p.Gly520Arg)
18g.33744442G>TCA402191263ASXL3c.4597G>T (p.Gly1533Cys)
c.4594G>T (p.Gly1532Cys)
c.4474G>T (p.Gly1492Cys)
c.4570G>T (p.Gly1524Cys)
c.4516G>T (p.Gly1506Cys)
c.4477G>T (p.Gly1493Cys)
c.4426G>T (p.Gly1476Cys)
c.1558G>T (p.Gly520Cys)
18g.33744443G>ACA402191265ASXL3c.4598G>A (p.Gly1533Asp)
c.4595G>A (p.Gly1532Asp)
c.4475G>A (p.Gly1492Asp)
c.4571G>A (p.Gly1524Asp)
c.4517G>A (p.Gly1506Asp)
c.4478G>A (p.Gly1493Asp)
c.4427G>A (p.Gly1476Asp)
c.1559G>A (p.Gly520Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33744443G>CCA402191266ASXL3c.4598G>C (p.Gly1533Ala)
c.4595G>C (p.Gly1532Ala)
c.4475G>C (p.Gly1492Ala)
c.4571G>C (p.Gly1524Ala)
c.4517G>C (p.Gly1506Ala)
c.4478G>C (p.Gly1493Ala)
c.4427G>C (p.Gly1476Ala)
c.1559G>C (p.Gly520Ala)
18g.33744443G=CA2294858137ASXL3c.4598G= (p.Gly1533=)
c.4595G= (p.Gly1532=)
c.4475G= (p.Gly1492=)
c.4571G= (p.Gly1524=)
c.4517G= (p.Gly1506=)
c.4478G= (p.Gly1493=)
c.4427G= (p.Gly1476=)
c.1559G= (p.Gly520=)
18g.33744443G>TCA402191267ASXL3c.4598G>T (p.Gly1533Val)
c.4595G>T (p.Gly1532Val)
c.4475G>T (p.Gly1492Val)
c.4571G>T (p.Gly1524Val)
c.4517G>T (p.Gly1506Val)
c.4478G>T (p.Gly1493Val)
c.4427G>T (p.Gly1476Val)
c.1559G>T (p.Gly520Val)
18g.33744444T>ACA503770730ASXL3c.4599T>A (p.Gly1533=)
c.4596T>A (p.Gly1532=)
c.4476T>A (p.Gly1492=)
c.4572T>A (p.Gly1524=)
c.4518T>A (p.Gly1506=)
c.4479T>A (p.Gly1493=)
c.4428T>A (p.Gly1476=)
c.1560T>A (p.Gly520=)
18g.33744444T>CCA503770732ASXL3c.4599T>C (p.Gly1533=)
c.4596T>C (p.Gly1532=)
c.4476T>C (p.Gly1492=)
c.4572T>C (p.Gly1524=)
c.4518T>C (p.Gly1506=)
c.4479T>C (p.Gly1493=)
c.4428T>C (p.Gly1476=)
c.1560T>C (p.Gly520=)
18g.33744444T>GCA503770731ASXL3c.4599T>G (p.Gly1533=)
c.4596T>G (p.Gly1532=)
c.4476T>G (p.Gly1492=)
c.4572T>G (p.Gly1524=)
c.4518T>G (p.Gly1506=)
c.4479T>G (p.Gly1493=)
c.4428T>G (p.Gly1476=)
c.1560T>G (p.Gly520=)
18g.33744445A=CA2294858138ASXL3c.4600A= (p.Ile1534=)
c.4597A= (p.Ile1533=)
c.4477A= (p.Ile1493=)
c.4573A= (p.Ile1525=)
c.4519A= (p.Ile1507=)
c.4480A= (p.Ile1494=)
c.4429A= (p.Ile1477=)
c.1561A= (p.Ile521=)
18g.33744445A>CCA402191268ASXL3c.4600A>C (p.Ile1534Leu)
c.4597A>C (p.Ile1533Leu)
c.4477A>C (p.Ile1493Leu)
c.4573A>C (p.Ile1525Leu)
c.4519A>C (p.Ile1507Leu)
c.4480A>C (p.Ile1494Leu)
c.4429A>C (p.Ile1477Leu)
c.1561A>C (p.Ile521Leu)
18g.33744445A>GCA8934292ASXL3c.4600A>G (p.Ile1534Val)
c.4597A>G (p.Ile1533Val)
c.4477A>G (p.Ile1493Val)
c.4573A>G (p.Ile1525Val)
c.4519A>G (p.Ile1507Val)
c.4480A>G (p.Ile1494Val)
c.4429A>G (p.Ile1477Val)
c.1561A>G (p.Ile521Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744445A>TCA402191269ASXL3c.4600A>T (p.Ile1534Leu)
c.4597A>T (p.Ile1533Leu)
c.4477A>T (p.Ile1493Leu)
c.4573A>T (p.Ile1525Leu)
c.4519A>T (p.Ile1507Leu)
c.4480A>T (p.Ile1494Leu)
c.4429A>T (p.Ile1477Leu)
c.1561A>T (p.Ile521Leu)
18g.33744446T>ACA402191270ASXL3c.4601T>A (p.Ile1534Lys)
c.4598T>A (p.Ile1533Lys)
c.4478T>A (p.Ile1493Lys)
c.4574T>A (p.Ile1525Lys)
c.4520T>A (p.Ile1507Lys)
c.4481T>A (p.Ile1494Lys)
c.4430T>A (p.Ile1477Lys)
c.1562T>A (p.Ile521Lys)
18g.33744446T>CCA402191271ASXL3c.4601T>C (p.Ile1534Thr)
c.4598T>C (p.Ile1533Thr)
c.4478T>C (p.Ile1493Thr)
c.4574T>C (p.Ile1525Thr)
c.4520T>C (p.Ile1507Thr)
c.4481T>C (p.Ile1494Thr)
c.4430T>C (p.Ile1477Thr)
c.1562T>C (p.Ile521Thr)
 dbSNP gnomAD v3 gnomAD v4
18g.33744446T>GCA402191272ASXL3c.4601T>G (p.Ile1534Arg)
c.4598T>G (p.Ile1533Arg)
c.4478T>G (p.Ile1493Arg)
c.4574T>G (p.Ile1525Arg)
c.4520T>G (p.Ile1507Arg)
c.4481T>G (p.Ile1494Arg)
c.4430T>G (p.Ile1477Arg)
c.1562T>G (p.Ile521Arg)
 dbSNP
18g.33744446T=CA2294858139ASXL3c.4601T= (p.Ile1534=)
c.4598T= (p.Ile1533=)
c.4478T= (p.Ile1493=)
c.4574T= (p.Ile1525=)
c.4520T= (p.Ile1507=)
c.4481T= (p.Ile1494=)
c.4430T= (p.Ile1477=)
c.1562T= (p.Ile521=)
18g.33744447A>CCA503770735ASXL3c.4602A>C (p.Ile1534=)
c.4599A>C (p.Ile1533=)
c.4479A>C (p.Ile1493=)
c.4575A>C (p.Ile1525=)
c.4521A>C (p.Ile1507=)
c.4482A>C (p.Ile1494=)
c.4431A>C (p.Ile1477=)
c.1563A>C (p.Ile521=)
18g.33744447A>GCA402191273ASXL3c.4602A>G (p.Ile1534Met)
c.4599A>G (p.Ile1533Met)
c.4479A>G (p.Ile1493Met)
c.4575A>G (p.Ile1525Met)
c.4521A>G (p.Ile1507Met)
c.4482A>G (p.Ile1494Met)
c.4431A>G (p.Ile1477Met)
c.1563A>G (p.Ile521Met)
18g.33744447A>TCA503770736ASXL3c.4602A>T (p.Ile1534=)
c.4599A>T (p.Ile1533=)
c.4479A>T (p.Ile1493=)
c.4575A>T (p.Ile1525=)
c.4521A>T (p.Ile1507=)
c.4482A>T (p.Ile1494=)
c.4431A>T (p.Ile1477=)
c.1563A>T (p.Ile521=)
18g.33744448G>ACA402191274ASXL3c.4603G>A (p.Asp1535Asn)
c.4600G>A (p.Asp1534Asn)
c.4480G>A (p.Asp1494Asn)
c.4576G>A (p.Asp1526Asn)
c.4522G>A (p.Asp1508Asn)
c.4483G>A (p.Asp1495Asn)
c.4432G>A (p.Asp1478Asn)
c.1564G>A (p.Asp522Asn)
18g.33744448G>CCA402191275ASXL3c.4603G>C (p.Asp1535His)
c.4600G>C (p.Asp1534His)
c.4480G>C (p.Asp1494His)
c.4576G>C (p.Asp1526His)
c.4522G>C (p.Asp1508His)
c.4483G>C (p.Asp1495His)
c.4432G>C (p.Asp1478His)
c.1564G>C (p.Asp522His)
 dbSNP
18g.33744448G=CA2294858140ASXL3c.4603G= (p.Asp1535=)
c.4600G= (p.Asp1534=)
c.4480G= (p.Asp1494=)
c.4576G= (p.Asp1526=)
c.4522G= (p.Asp1508=)
c.4483G= (p.Asp1495=)
c.4432G= (p.Asp1478=)
c.1564G= (p.Asp522=)
18g.33744448G>TCA402191276ASXL3c.4603G>T (p.Asp1535Tyr)
c.4600G>T (p.Asp1534Tyr)
c.4480G>T (p.Asp1494Tyr)
c.4576G>T (p.Asp1526Tyr)
c.4522G>T (p.Asp1508Tyr)
c.4483G>T (p.Asp1495Tyr)
c.4432G>T (p.Asp1478Tyr)
c.1564G>T (p.Asp522Tyr)
18g.33744449A>CCA402191277ASXL3c.4604A>C (p.Asp1535Ala)
c.4601A>C (p.Asp1534Ala)
c.4481A>C (p.Asp1494Ala)
c.4577A>C (p.Asp1526Ala)
c.4523A>C (p.Asp1508Ala)
c.4484A>C (p.Asp1495Ala)
c.4433A>C (p.Asp1478Ala)
c.1565A>C (p.Asp522Ala)
18g.33744449A>GCA402191279ASXL3c.4604A>G (p.Asp1535Gly)
c.4601A>G (p.Asp1534Gly)
c.4481A>G (p.Asp1494Gly)
c.4577A>G (p.Asp1526Gly)
c.4523A>G (p.Asp1508Gly)
c.4484A>G (p.Asp1495Gly)
c.4433A>G (p.Asp1478Gly)
c.1565A>G (p.Asp522Gly)
18g.33744449A>TCA402191278ASXL3c.4604A>T (p.Asp1535Val)
c.4601A>T (p.Asp1534Val)
c.4481A>T (p.Asp1494Val)
c.4577A>T (p.Asp1526Val)
c.4523A>T (p.Asp1508Val)
c.4484A>T (p.Asp1495Val)
c.4433A>T (p.Asp1478Val)
c.1565A>T (p.Asp522Val)
 gnomAD v4
18g.33744450T>ACA402191280ASXL3c.4605T>A (p.Asp1535Glu)
c.4602T>A (p.Asp1534Glu)
c.4482T>A (p.Asp1494Glu)
c.4578T>A (p.Asp1526Glu)
c.4524T>A (p.Asp1508Glu)
c.4485T>A (p.Asp1495Glu)
c.4434T>A (p.Asp1478Glu)
c.1566T>A (p.Asp522Glu)
18g.33744450T>CCA503770741ASXL3c.4605T>C (p.Asp1535=)
c.4602T>C (p.Asp1534=)
c.4482T>C (p.Asp1494=)
c.4578T>C (p.Asp1526=)
c.4524T>C (p.Asp1508=)
c.4485T>C (p.Asp1495=)
c.4434T>C (p.Asp1478=)
c.1566T>C (p.Asp522=)
18g.33744450T>GCA402191281ASXL3c.4605T>G (p.Asp1535Glu)
c.4602T>G (p.Asp1534Glu)
c.4482T>G (p.Asp1494Glu)
c.4578T>G (p.Asp1526Glu)
c.4524T>G (p.Asp1508Glu)
c.4485T>G (p.Asp1495Glu)
c.4434T>G (p.Asp1478Glu)
c.1566T>G (p.Asp522Glu)
18g.33744450T=CA2294858141ASXL3c.4605T= (p.Asp1535=)
c.4602T= (p.Asp1534=)
c.4482T= (p.Asp1494=)
c.4578T= (p.Asp1526=)
c.4524T= (p.Asp1508=)
c.4485T= (p.Asp1495=)
c.4434T= (p.Asp1478=)
c.1566T= (p.Asp522=)
18g.33744451C>ACA402191282ASXL3c.4606C>A (p.His1536Asn)
c.4603C>A (p.His1535Asn)
c.4483C>A (p.His1495Asn)
c.4579C>A (p.His1527Asn)
c.4525C>A (p.His1509Asn)
c.4486C>A (p.His1496Asn)
c.4435C>A (p.His1479Asn)
c.1567C>A (p.His523Asn)
18g.33744451C=CA2294858142ASXL3c.4606C= (p.His1536=)
c.4603C= (p.His1535=)
c.4483C= (p.His1495=)
c.4579C= (p.His1527=)
c.4525C= (p.His1509=)
c.4486C= (p.His1496=)
c.4435C= (p.His1479=)
c.1567C= (p.His523=)
18g.33744451C>GCA8934293ASXL3c.4606C>G (p.His1536Asp)
c.4603C>G (p.His1535Asp)
c.4483C>G (p.His1495Asp)
c.4579C>G (p.His1527Asp)
c.4525C>G (p.His1509Asp)
c.4486C>G (p.His1496Asp)
c.4435C>G (p.His1479Asp)
c.1567C>G (p.His523Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744451C>TCA402191283ASXL3c.4606C>T (p.His1536Tyr)
c.4603C>T (p.His1535Tyr)
c.4483C>T (p.His1495Tyr)
c.4579C>T (p.His1527Tyr)
c.4525C>T (p.His1509Tyr)
c.4486C>T (p.His1496Tyr)
c.4435C>T (p.His1479Tyr)
c.1567C>T (p.His523Tyr)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
18g.33744453_33744454dupCA913191247ASXL3c.4608_4609dup (p.Ser1537ThrfsTer?)
c.4605_4606dup (p.Ser1536ThrfsTer?)
c.4485_4486dup (p.Ser1496ThrfsTer?)
c.4581_4582dup (p.Ser1528ThrfsTer?)
c.4527_4528dup (p.Ser1510ThrfsTer?)
c.4488_4489dup (p.Ser1497ThrfsTer?)
c.4437_4438dup (p.Ser1480ThrfsTer?)
c.1569_1570dup (p.Ser524ThrfsTer?)
 ClinVar dbSNP
18g.33744452A>CCA402191284ASXL3c.4607A>C (p.His1536Pro)
c.4604A>C (p.His1535Pro)
c.4484A>C (p.His1495Pro)
c.4580A>C (p.His1527Pro)
c.4526A>C (p.His1509Pro)
c.4487A>C (p.His1496Pro)
c.4436A>C (p.His1479Pro)
c.1568A>C (p.His523Pro)
 gnomAD v4
18g.33744452A>GCA402191285ASXL3c.4607A>G (p.His1536Arg)
c.4604A>G (p.His1535Arg)
c.4484A>G (p.His1495Arg)
c.4580A>G (p.His1527Arg)
c.4526A>G (p.His1509Arg)
c.4487A>G (p.His1496Arg)
c.4436A>G (p.His1479Arg)
c.1568A>G (p.His523Arg)
18g.33744452A>TCA402191286ASXL3c.4607A>T (p.His1536Leu)
c.4604A>T (p.His1535Leu)
c.4484A>T (p.His1495Leu)
c.4580A>T (p.His1527Leu)
c.4526A>T (p.His1509Leu)
c.4487A>T (p.His1496Leu)
c.4436A>T (p.His1479Leu)
c.1568A>T (p.His523Leu)
18g.33744453C>ACA402191287ASXL3c.4608C>A (p.His1536Gln)
c.4605C>A (p.His1535Gln)
c.4485C>A (p.His1495Gln)
c.4581C>A (p.His1527Gln)
c.4527C>A (p.His1509Gln)
c.4488C>A (p.His1496Gln)
c.4437C>A (p.His1479Gln)
c.1569C>A (p.His523Gln)
18g.33744453C>GCA402191288ASXL3c.4608C>G (p.His1536Gln)
c.4605C>G (p.His1535Gln)
c.4485C>G (p.His1495Gln)
c.4581C>G (p.His1527Gln)
c.4527C>G (p.His1509Gln)
c.4488C>G (p.His1496Gln)
c.4437C>G (p.His1479Gln)
c.1569C>G (p.His523Gln)
18g.33744453C>TCA503770746ASXL3c.4608C>T (p.His1536=)
c.4605C>T (p.His1535=)
c.4485C>T (p.His1495=)
c.4581C>T (p.His1527=)
c.4527C>T (p.His1509=)
c.4488C>T (p.His1496=)
c.4437C>T (p.His1479=)
c.1569C>T (p.His523=)
 gnomAD v4
18g.33744454A>CCA402191291ASXL3c.4609A>C (p.Ser1537Arg)
c.4606A>C (p.Ser1536Arg)
c.4486A>C (p.Ser1496Arg)
c.4582A>C (p.Ser1528Arg)
c.4528A>C (p.Ser1510Arg)
c.4489A>C (p.Ser1497Arg)
c.4438A>C (p.Ser1480Arg)
c.1570A>C (p.Ser524Arg)
18g.33744454A>GCA402191290ASXL3c.4609A>G (p.Ser1537Gly)
c.4606A>G (p.Ser1536Gly)
c.4486A>G (p.Ser1496Gly)
c.4582A>G (p.Ser1528Gly)
c.4528A>G (p.Ser1510Gly)
c.4489A>G (p.Ser1497Gly)
c.4438A>G (p.Ser1480Gly)
c.1570A>G (p.Ser524Gly)
18g.33744454A>TCA402191289ASXL3c.4609A>T (p.Ser1537Cys)
c.4606A>T (p.Ser1536Cys)
c.4486A>T (p.Ser1496Cys)
c.4582A>T (p.Ser1528Cys)
c.4528A>T (p.Ser1510Cys)
c.4489A>T (p.Ser1497Cys)
c.4438A>T (p.Ser1480Cys)
c.1570A>T (p.Ser524Cys)
18g.33744455G>ACA402191292ASXL3c.4610G>A (p.Ser1537Asn)
c.4607G>A (p.Ser1536Asn)
c.4487G>A (p.Ser1496Asn)
c.4583G>A (p.Ser1528Asn)
c.4529G>A (p.Ser1510Asn)
c.4490G>A (p.Ser1497Asn)
c.4439G>A (p.Ser1480Asn)
c.1571G>A (p.Ser524Asn)
18g.33744455G>CCA402191293ASXL3c.4610G>C (p.Ser1537Thr)
c.4607G>C (p.Ser1536Thr)
c.4487G>C (p.Ser1496Thr)
c.4583G>C (p.Ser1528Thr)
c.4529G>C (p.Ser1510Thr)
c.4490G>C (p.Ser1497Thr)
c.4439G>C (p.Ser1480Thr)
c.1571G>C (p.Ser524Thr)
18g.33744455G>TCA402191294ASXL3c.4610G>T (p.Ser1537Ile)
c.4607G>T (p.Ser1536Ile)
c.4487G>T (p.Ser1496Ile)
c.4583G>T (p.Ser1528Ile)
c.4529G>T (p.Ser1510Ile)
c.4490G>T (p.Ser1497Ile)
c.4439G>T (p.Ser1480Ile)
c.1571G>T (p.Ser524Ile)
 gnomAD v4
18g.33744456T>ACA402191295ASXL3c.4611T>A (p.Ser1537Arg)
c.4608T>A (p.Ser1536Arg)
c.4488T>A (p.Ser1496Arg)
c.4584T>A (p.Ser1528Arg)
c.4530T>A (p.Ser1510Arg)
c.4491T>A (p.Ser1497Arg)
c.4440T>A (p.Ser1480Arg)
c.1572T>A (p.Ser524Arg)
18g.33744456T>CCA503770753ASXL3c.4611T>C (p.Ser1537=)
c.4608T>C (p.Ser1536=)
c.4488T>C (p.Ser1496=)
c.4584T>C (p.Ser1528=)
c.4530T>C (p.Ser1510=)
c.4491T>C (p.Ser1497=)
c.4440T>C (p.Ser1480=)
c.1572T>C (p.Ser524=)
18g.33744456T>GCA402191296ASXL3c.4611T>G (p.Ser1537Arg)
c.4608T>G (p.Ser1536Arg)
c.4488T>G (p.Ser1496Arg)
c.4584T>G (p.Ser1528Arg)
c.4530T>G (p.Ser1510Arg)
c.4491T>G (p.Ser1497Arg)
c.4440T>G (p.Ser1480Arg)
c.1572T>G (p.Ser524Arg)
18g.33744457T>ACA402191299ASXL3c.4612T>A (p.Ser1538Thr)
c.4609T>A (p.Ser1537Thr)
c.4489T>A (p.Ser1497Thr)
c.4585T>A (p.Ser1529Thr)
c.4531T>A (p.Ser1511Thr)
c.4492T>A (p.Ser1498Thr)
c.4441T>A (p.Ser1481Thr)
c.1573T>A (p.Ser525Thr)
18g.33744457T>CCA402191298ASXL3c.4612T>C (p.Ser1538Pro)
c.4609T>C (p.Ser1537Pro)
c.4489T>C (p.Ser1497Pro)
c.4585T>C (p.Ser1529Pro)
c.4531T>C (p.Ser1511Pro)
c.4492T>C (p.Ser1498Pro)
c.4441T>C (p.Ser1481Pro)
c.1573T>C (p.Ser525Pro)
18g.33744457T>GCA402191297ASXL3c.4612T>G (p.Ser1538Ala)
c.4609T>G (p.Ser1537Ala)
c.4489T>G (p.Ser1497Ala)
c.4585T>G (p.Ser1529Ala)
c.4531T>G (p.Ser1511Ala)
c.4492T>G (p.Ser1498Ala)
c.4441T>G (p.Ser1481Ala)
c.1573T>G (p.Ser525Ala)
18g.33744458C>ACA402191300ASXL3c.4613C>A (p.Ser1538Tyr)
c.4610C>A (p.Ser1537Tyr)
c.4490C>A (p.Ser1497Tyr)
c.4586C>A (p.Ser1529Tyr)
c.4532C>A (p.Ser1511Tyr)
c.4493C>A (p.Ser1498Tyr)
c.4442C>A (p.Ser1481Tyr)
c.1574C>A (p.Ser525Tyr)
 dbSNP gnomAD v3 gnomAD v4
18g.33744458C=CA2294858143ASXL3c.4613C= (p.Ser1538=)
c.4610C= (p.Ser1537=)
c.4490C= (p.Ser1497=)
c.4586C= (p.Ser1529=)
c.4532C= (p.Ser1511=)
c.4493C= (p.Ser1498=)
c.4442C= (p.Ser1481=)
c.1574C= (p.Ser525=)
18g.33744458C>GCA402191301ASXL3c.4613C>G (p.Ser1538Cys)
c.4610C>G (p.Ser1537Cys)
c.4490C>G (p.Ser1497Cys)
c.4586C>G (p.Ser1529Cys)
c.4532C>G (p.Ser1511Cys)
c.4493C>G (p.Ser1498Cys)
c.4442C>G (p.Ser1481Cys)
c.1574C>G (p.Ser525Cys)
18g.33744458C>TCA402191302ASXL3c.4613C>T (p.Ser1538Phe)
c.4610C>T (p.Ser1537Phe)
c.4490C>T (p.Ser1497Phe)
c.4586C>T (p.Ser1529Phe)
c.4532C>T (p.Ser1511Phe)
c.4493C>T (p.Ser1498Phe)
c.4442C>T (p.Ser1481Phe)
c.1574C>T (p.Ser525Phe)
18g.33744458_33744464delinsCCACTTTCA2294858144ASXL3c.4613_4619delinsCCACTTT (p.Ser1538=)
c.4610_4616delinsCCACTTT (p.Ser1537=)
c.4490_4496delinsCCACTTT (p.Ser1497=)
c.4586_4592delinsCCACTTT (p.Ser1529=)
c.4532_4538delinsCCACTTT (p.Ser1511=)
c.4493_4499delinsCCACTTT (p.Ser1498=)
c.4442_4448delinsCCACTTT (p.Ser1481=)
c.1574_1580delinsCCACTTT (p.Ser525=)
18g.33744459C>ACA503770756ASXL3c.4614C>A (p.Ser1538=)
c.4611C>A (p.Ser1537=)
c.4491C>A (p.Ser1497=)
c.4587C>A (p.Ser1529=)
c.4533C>A (p.Ser1511=)
c.4494C>A (p.Ser1498=)
c.4443C>A (p.Ser1481=)
c.1575C>A (p.Ser525=)
18g.33744459C>GCA503770757ASXL3c.4614C>G (p.Ser1538=)
c.4611C>G (p.Ser1537=)
c.4491C>G (p.Ser1497=)
c.4587C>G (p.Ser1529=)
c.4533C>G (p.Ser1511=)
c.4494C>G (p.Ser1498=)
c.4443C>G (p.Ser1481=)
c.1575C>G (p.Ser525=)
18g.33744459C>TCA503770758ASXL3c.4614C>T (p.Ser1538=)
c.4611C>T (p.Ser1537=)
c.4491C>T (p.Ser1497=)
c.4587C>T (p.Ser1529=)
c.4533C>T (p.Ser1511=)
c.4494C>T (p.Ser1498=)
c.4443C>T (p.Ser1481=)
c.1575C>T (p.Ser525=)
 gnomAD v4
18g.33744461_33744466delCA989072449ASXL3c.4616_4621del (p.Thr1539_Phe1540del)
c.4613_4618del (p.Thr1538_Phe1539del)
c.4493_4498del (p.Thr1498_Phe1499del)
c.4589_4594del (p.Thr1530_Phe1531del)
c.4535_4540del (p.Thr1512_Phe1513del)
c.4496_4501del (p.Thr1499_Phe1500del)
c.4445_4450del (p.Thr1482_Phe1483del)
c.1577_1582del (p.Thr526_Phe527del)
 dbSNP gnomAD v3 gnomAD v4
18g.33744460A=CA2294858145ASXL3c.4615A= (p.Thr1539=)
c.4612A= (p.Thr1538=)
c.4492A= (p.Thr1498=)
c.4588A= (p.Thr1530=)
c.4534A= (p.Thr1512=)
c.4495A= (p.Thr1499=)
c.4444A= (p.Thr1482=)
c.1576A= (p.Thr526=)
18g.33744460A>CCA402191303ASXL3c.4615A>C (p.Thr1539Pro)
c.4612A>C (p.Thr1538Pro)
c.4492A>C (p.Thr1498Pro)
c.4588A>C (p.Thr1530Pro)
c.4534A>C (p.Thr1512Pro)
c.4495A>C (p.Thr1499Pro)
c.4444A>C (p.Thr1482Pro)
c.1576A>C (p.Thr526Pro)
18g.33744460A>GCA402191304ASXL3c.4615A>G (p.Thr1539Ala)
c.4612A>G (p.Thr1538Ala)
c.4492A>G (p.Thr1498Ala)
c.4588A>G (p.Thr1530Ala)
c.4534A>G (p.Thr1512Ala)
c.4495A>G (p.Thr1499Ala)
c.4444A>G (p.Thr1482Ala)
c.1576A>G (p.Thr526Ala)
 dbSNP gnomAD v3 gnomAD v4
18g.33744460A>TCA402191305ASXL3c.4615A>T (p.Thr1539Ser)
c.4612A>T (p.Thr1538Ser)
c.4492A>T (p.Thr1498Ser)
c.4588A>T (p.Thr1530Ser)
c.4534A>T (p.Thr1512Ser)
c.4495A>T (p.Thr1499Ser)
c.4444A>T (p.Thr1482Ser)
c.1576A>T (p.Thr526Ser)
 COSMIC
18g.33744461C>ACA402191306ASXL3c.4616C>A (p.Thr1539Asn)
c.4613C>A (p.Thr1538Asn)
c.4493C>A (p.Thr1498Asn)
c.4589C>A (p.Thr1530Asn)
c.4535C>A (p.Thr1512Asn)
c.4496C>A (p.Thr1499Asn)
c.4445C>A (p.Thr1482Asn)
c.1577C>A (p.Thr526Asn)
 gnomAD v4
18g.33744461C=CA2294858146ASXL3c.4616C= (p.Thr1539=)
c.4613C= (p.Thr1538=)
c.4493C= (p.Thr1498=)
c.4589C= (p.Thr1530=)
c.4535C= (p.Thr1512=)
c.4496C= (p.Thr1499=)
c.4445C= (p.Thr1482=)
c.1577C= (p.Thr526=)
18g.33744461C>GCA402191308ASXL3c.4616C>G (p.Thr1539Ser)
c.4613C>G (p.Thr1538Ser)
c.4493C>G (p.Thr1498Ser)
c.4589C>G (p.Thr1530Ser)
c.4535C>G (p.Thr1512Ser)
c.4496C>G (p.Thr1499Ser)
c.4445C>G (p.Thr1482Ser)
c.1577C>G (p.Thr526Ser)
18g.33744461C>TCA402191307ASXL3c.4616C>T (p.Thr1539Ile)
c.4613C>T (p.Thr1538Ile)
c.4493C>T (p.Thr1498Ile)
c.4589C>T (p.Thr1530Ile)
c.4535C>T (p.Thr1512Ile)
c.4496C>T (p.Thr1499Ile)
c.4445C>T (p.Thr1482Ile)
c.1577C>T (p.Thr526Ile)
 dbSNP
18g.33744462T>ACA503770765ASXL3c.4617T>A (p.Thr1539=)
c.4614T>A (p.Thr1538=)
c.4494T>A (p.Thr1498=)
c.4590T>A (p.Thr1530=)
c.4536T>A (p.Thr1512=)
c.4497T>A (p.Thr1499=)
c.4446T>A (p.Thr1482=)
c.1578T>A (p.Thr526=)
18g.33744462T>CCA503770766ASXL3c.4617T>C (p.Thr1539=)
c.4614T>C (p.Thr1538=)
c.4494T>C (p.Thr1498=)
c.4590T>C (p.Thr1530=)
c.4536T>C (p.Thr1512=)
c.4497T>C (p.Thr1499=)
c.4446T>C (p.Thr1482=)
c.1578T>C (p.Thr526=)
 dbSNP
18g.33744462T>GCA503770767ASXL3c.4617T>G (p.Thr1539=)
c.4614T>G (p.Thr1538=)
c.4494T>G (p.Thr1498=)
c.4590T>G (p.Thr1530=)
c.4536T>G (p.Thr1512=)
c.4497T>G (p.Thr1499=)
c.4446T>G (p.Thr1482=)
c.1578T>G (p.Thr526=)
18g.33744462T=CA2294858147ASXL3c.4617T= (p.Thr1539=)
c.4614T= (p.Thr1538=)
c.4494T= (p.Thr1498=)
c.4590T= (p.Thr1530=)
c.4536T= (p.Thr1512=)
c.4497T= (p.Thr1499=)
c.4446T= (p.Thr1482=)
c.1578T= (p.Thr526=)
18g.33744463T>ACA402191309ASXL3c.4618T>A (p.Phe1540Ile)
c.4615T>A (p.Phe1539Ile)
c.4495T>A (p.Phe1499Ile)
c.4591T>A (p.Phe1531Ile)
c.4537T>A (p.Phe1513Ile)
c.4498T>A (p.Phe1500Ile)
c.4447T>A (p.Phe1483Ile)
c.1579T>A (p.Phe527Ile)
18g.33744463T>CCA402191310ASXL3c.4618T>C (p.Phe1540Leu)
c.4615T>C (p.Phe1539Leu)
c.4495T>C (p.Phe1499Leu)
c.4591T>C (p.Phe1531Leu)
c.4537T>C (p.Phe1513Leu)
c.4498T>C (p.Phe1500Leu)
c.4447T>C (p.Phe1483Leu)
c.1579T>C (p.Phe527Leu)
18g.33744463T>GCA402191311ASXL3c.4618T>G (p.Phe1540Val)
c.4615T>G (p.Phe1539Val)
c.4495T>G (p.Phe1499Val)
c.4591T>G (p.Phe1531Val)
c.4537T>G (p.Phe1513Val)
c.4498T>G (p.Phe1500Val)
c.4447T>G (p.Phe1483Val)
c.1579T>G (p.Phe527Val)
18g.33744464T>ACA402191312ASXL3c.4619T>A (p.Phe1540Tyr)
c.4616T>A (p.Phe1539Tyr)
c.4496T>A (p.Phe1499Tyr)
c.4592T>A (p.Phe1531Tyr)
c.4538T>A (p.Phe1513Tyr)
c.4499T>A (p.Phe1500Tyr)
c.4448T>A (p.Phe1483Tyr)
c.1580T>A (p.Phe527Tyr)
18g.33744464T>CCA402191313ASXL3c.4619T>C (p.Phe1540Ser)
c.4616T>C (p.Phe1539Ser)
c.4496T>C (p.Phe1499Ser)
c.4592T>C (p.Phe1531Ser)
c.4538T>C (p.Phe1513Ser)
c.4499T>C (p.Phe1500Ser)
c.4448T>C (p.Phe1483Ser)
c.1580T>C (p.Phe527Ser)
 dbSNP gnomAD v4
18g.33744464T>GCA402191314ASXL3c.4619T>G (p.Phe1540Cys)
c.4616T>G (p.Phe1539Cys)
c.4496T>G (p.Phe1499Cys)
c.4592T>G (p.Phe1531Cys)
c.4538T>G (p.Phe1513Cys)
c.4499T>G (p.Phe1500Cys)
c.4448T>G (p.Phe1483Cys)
c.1580T>G (p.Phe527Cys)
18g.33744464T=CA2294858148ASXL3c.4619T= (p.Phe1540=)
c.4616T= (p.Phe1539=)
c.4496T= (p.Phe1499=)
c.4592T= (p.Phe1531=)
c.4538T= (p.Phe1513=)
c.4499T= (p.Phe1500=)
c.4448T= (p.Phe1483=)
c.1580T= (p.Phe527=)
18g.33744465C>ACA402191315ASXL3c.4620C>A (p.Phe1540Leu)
c.4617C>A (p.Phe1539Leu)
c.4497C>A (p.Phe1499Leu)
c.4593C>A (p.Phe1531Leu)
c.4539C>A (p.Phe1513Leu)
c.4500C>A (p.Phe1500Leu)
c.4449C>A (p.Phe1483Leu)
c.1581C>A (p.Phe527Leu)
 gnomAD v4
18g.33744465C>GCA402191316ASXL3c.4620C>G (p.Phe1540Leu)
c.4617C>G (p.Phe1539Leu)
c.4497C>G (p.Phe1499Leu)
c.4593C>G (p.Phe1531Leu)
c.4539C>G (p.Phe1513Leu)
c.4500C>G (p.Phe1500Leu)
c.4449C>G (p.Phe1483Leu)
c.1581C>G (p.Phe527Leu)
18g.33744465C>TCA503770774ASXL3c.4620C>T (p.Phe1540=)
c.4617C>T (p.Phe1539=)
c.4497C>T (p.Phe1499=)
c.4593C>T (p.Phe1531=)
c.4539C>T (p.Phe1513=)
c.4500C>T (p.Phe1500=)
c.4449C>T (p.Phe1483=)
c.1581C>T (p.Phe527=)
18g.33744466A=CA2294858149ASXL3c.4621A= (p.Ile1541=)
c.4618A= (p.Ile1540=)
c.4498A= (p.Ile1500=)
c.4594A= (p.Ile1532=)
c.4540A= (p.Ile1514=)
c.4501A= (p.Ile1501=)
c.4450A= (p.Ile1484=)
c.1582A= (p.Ile528=)
18g.33744466A>CCA402191317ASXL3c.4621A>C (p.Ile1541Leu)
c.4618A>C (p.Ile1540Leu)
c.4498A>C (p.Ile1500Leu)
c.4594A>C (p.Ile1532Leu)
c.4540A>C (p.Ile1514Leu)
c.4501A>C (p.Ile1501Leu)
c.4450A>C (p.Ile1484Leu)
c.1582A>C (p.Ile528Leu)
18g.33744466A>GCA8934294ASXL3c.4621A>G (p.Ile1541Val)
c.4618A>G (p.Ile1540Val)
c.4498A>G (p.Ile1500Val)
c.4594A>G (p.Ile1532Val)
c.4540A>G (p.Ile1514Val)
c.4501A>G (p.Ile1501Val)
c.4450A>G (p.Ile1484Val)
c.1582A>G (p.Ile528Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744466A>TCA402191318ASXL3c.4621A>T (p.Ile1541Phe)
c.4618A>T (p.Ile1540Phe)
c.4498A>T (p.Ile1500Phe)
c.4594A>T (p.Ile1532Phe)
c.4540A>T (p.Ile1514Phe)
c.4501A>T (p.Ile1501Phe)
c.4450A>T (p.Ile1484Phe)
c.1582A>T (p.Ile528Phe)
18g.33744467T>ACA402191320ASXL3c.4622T>A (p.Ile1541Asn)
c.4619T>A (p.Ile1540Asn)
c.4499T>A (p.Ile1500Asn)
c.4595T>A (p.Ile1532Asn)
c.4541T>A (p.Ile1514Asn)
c.4502T>A (p.Ile1501Asn)
c.4451T>A (p.Ile1484Asn)
c.1583T>A (p.Ile528Asn)
18g.33744467T>CCA8934295ASXL3c.4622T>C (p.Ile1541Thr)
c.4619T>C (p.Ile1540Thr)
c.4499T>C (p.Ile1500Thr)
c.4595T>C (p.Ile1532Thr)
c.4541T>C (p.Ile1514Thr)
c.4502T>C (p.Ile1501Thr)
c.4451T>C (p.Ile1484Thr)
c.1583T>C (p.Ile528Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744467T>GCA402191319ASXL3c.4622T>G (p.Ile1541Ser)
c.4619T>G (p.Ile1540Ser)
c.4499T>G (p.Ile1500Ser)
c.4595T>G (p.Ile1532Ser)
c.4541T>G (p.Ile1514Ser)
c.4502T>G (p.Ile1501Ser)
c.4451T>G (p.Ile1484Ser)
c.1583T>G (p.Ile528Ser)
18g.33744467T=CA2294858150ASXL3c.4622T= (p.Ile1541=)
c.4619T= (p.Ile1540=)
c.4499T= (p.Ile1500=)
c.4595T= (p.Ile1532=)
c.4541T= (p.Ile1514=)
c.4502T= (p.Ile1501=)
c.4451T= (p.Ile1484=)
c.1583T= (p.Ile528=)
18g.33744468T>ACA503770776ASXL3c.4623T>A (p.Ile1541=)
c.4620T>A (p.Ile1540=)
c.4500T>A (p.Ile1500=)
c.4596T>A (p.Ile1532=)
c.4542T>A (p.Ile1514=)
c.4503T>A (p.Ile1501=)
c.4452T>A (p.Ile1484=)
c.1584T>A (p.Ile528=)
18g.33744468T>CCA503770777ASXL3c.4623T>C (p.Ile1541=)
c.4620T>C (p.Ile1540=)
c.4500T>C (p.Ile1500=)
c.4596T>C (p.Ile1532=)
c.4542T>C (p.Ile1514=)
c.4503T>C (p.Ile1501=)
c.4452T>C (p.Ile1484=)
c.1584T>C (p.Ile528=)
18g.33744468T>GCA8934296ASXL3c.4623T>G (p.Ile1541Met)
c.4620T>G (p.Ile1540Met)
c.4500T>G (p.Ile1500Met)
c.4596T>G (p.Ile1532Met)
c.4542T>G (p.Ile1514Met)
c.4503T>G (p.Ile1501Met)
c.4452T>G (p.Ile1484Met)
c.1584T>G (p.Ile528Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744468T=CA2294858151ASXL3c.4623T= (p.Ile1541=)
c.4620T= (p.Ile1540=)
c.4500T= (p.Ile1500=)
c.4596T= (p.Ile1532=)
c.4542T= (p.Ile1514=)
c.4503T= (p.Ile1501=)
c.4452T= (p.Ile1484=)
c.1584T= (p.Ile528=)
18g.33744469G>ACA402191321ASXL3c.4624G>A (p.Ala1542Thr)
c.4621G>A (p.Ala1541Thr)
c.4501G>A (p.Ala1501Thr)
c.4597G>A (p.Ala1533Thr)
c.4543G>A (p.Ala1515Thr)
c.4504G>A (p.Ala1502Thr)
c.4453G>A (p.Ala1485Thr)
c.1585G>A (p.Ala529Thr)
18g.33744469G>CCA402191323ASXL3c.4624G>C (p.Ala1542Pro)
c.4621G>C (p.Ala1541Pro)
c.4501G>C (p.Ala1501Pro)
c.4597G>C (p.Ala1533Pro)
c.4543G>C (p.Ala1515Pro)
c.4504G>C (p.Ala1502Pro)
c.4453G>C (p.Ala1485Pro)
c.1585G>C (p.Ala529Pro)
18g.33744469G>TCA402191322ASXL3c.4624G>T (p.Ala1542Ser)
c.4621G>T (p.Ala1541Ser)
c.4501G>T (p.Ala1501Ser)
c.4597G>T (p.Ala1533Ser)
c.4543G>T (p.Ala1515Ser)
c.4504G>T (p.Ala1502Ser)
c.4453G>T (p.Ala1485Ser)
c.1585G>T (p.Ala529Ser)
18g.33744470C>ACA402191324ASXL3c.4625C>A (p.Ala1542Asp)
c.4622C>A (p.Ala1541Asp)
c.4502C>A (p.Ala1501Asp)
c.4598C>A (p.Ala1533Asp)
c.4544C>A (p.Ala1515Asp)
c.4505C>A (p.Ala1502Asp)
c.4454C>A (p.Ala1485Asp)
c.1586C>A (p.Ala529Asp)
18g.33744470C>GCA402191326ASXL3c.4625C>G (p.Ala1542Gly)
c.4622C>G (p.Ala1541Gly)
c.4502C>G (p.Ala1501Gly)
c.4598C>G (p.Ala1533Gly)
c.4544C>G (p.Ala1515Gly)
c.4505C>G (p.Ala1502Gly)
c.4454C>G (p.Ala1485Gly)
c.1586C>G (p.Ala529Gly)
18g.33744470C>TCA402191325ASXL3c.4625C>T (p.Ala1542Val)
c.4622C>T (p.Ala1541Val)
c.4502C>T (p.Ala1501Val)
c.4598C>T (p.Ala1533Val)
c.4544C>T (p.Ala1515Val)
c.4505C>T (p.Ala1502Val)
c.4454C>T (p.Ala1485Val)
c.1586C>T (p.Ala529Val)
 gnomAD v4
18g.33744471T>ACA503770422ASXL3c.4626T>A (p.Ala1542=)
c.4623T>A (p.Ala1541=)
c.4503T>A (p.Ala1501=)
c.4599T>A (p.Ala1533=)
c.4545T>A (p.Ala1515=)
c.4506T>A (p.Ala1502=)
c.4455T>A (p.Ala1485=)
c.1587T>A (p.Ala529=)
18g.33744471T>CCA503770423ASXL3c.4626T>C (p.Ala1542=)
c.4623T>C (p.Ala1541=)
c.4503T>C (p.Ala1501=)
c.4599T>C (p.Ala1533=)
c.4545T>C (p.Ala1515=)
c.4506T>C (p.Ala1502=)
c.4455T>C (p.Ala1485=)
c.1587T>C (p.Ala529=)
 COSMIC
18g.33744471T>GCA503770424ASXL3c.4626T>G (p.Ala1542=)
c.4623T>G (p.Ala1541=)
c.4503T>G (p.Ala1501=)
c.4599T>G (p.Ala1533=)
c.4545T>G (p.Ala1515=)
c.4506T>G (p.Ala1502=)
c.4455T>G (p.Ala1485=)
c.1587T>G (p.Ala529=)
18g.33744472delCA2580095672ASXL3c.4627del (p.Ala1543LeufsTer28)
c.4624del (p.Ala1542LeufsTer28)
c.4504del (p.Ala1502LeufsTer28)
c.4600del (p.Ala1534LeufsTer28)
c.4546del (p.Ala1516LeufsTer28)
c.4507del (p.Ala1503LeufsTer28)
c.4456del (p.Ala1486LeufsTer28)
c.1588del (p.Ala530LeufsTer28)
 ClinVar
18g.33744472G>ACA402191327ASXL3c.4627G>A (p.Ala1543Thr)
c.4624G>A (p.Ala1542Thr)
c.4504G>A (p.Ala1502Thr)
c.4600G>A (p.Ala1534Thr)
c.4546G>A (p.Ala1516Thr)
c.4507G>A (p.Ala1503Thr)
c.4456G>A (p.Ala1486Thr)
c.1588G>A (p.Ala530Thr)
18g.33744472G>CCA402191329ASXL3c.4627G>C (p.Ala1543Pro)
c.4624G>C (p.Ala1542Pro)
c.4504G>C (p.Ala1502Pro)
c.4600G>C (p.Ala1534Pro)
c.4546G>C (p.Ala1516Pro)
c.4507G>C (p.Ala1503Pro)
c.4456G>C (p.Ala1486Pro)
c.1588G>C (p.Ala530Pro)
 gnomAD v4
18g.33744472G=CA2294858152ASXL3c.4627G= (p.Ala1543=)
c.4624G= (p.Ala1542=)
c.4504G= (p.Ala1502=)
c.4600G= (p.Ala1534=)
c.4546G= (p.Ala1516=)
c.4507G= (p.Ala1503=)
c.4456G= (p.Ala1486=)
c.1588G= (p.Ala530=)
18g.33744472G>TCA402191328ASXL3c.4627G>T (p.Ala1543Ser)
c.4624G>T (p.Ala1542Ser)
c.4504G>T (p.Ala1502Ser)
c.4600G>T (p.Ala1534Ser)
c.4546G>T (p.Ala1516Ser)
c.4507G>T (p.Ala1503Ser)
c.4456G>T (p.Ala1486Ser)
c.1588G>T (p.Ala530Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
18g.33744473C>ACA402191330ASXL3c.4628C>A (p.Ala1543Asp)
c.4625C>A (p.Ala1542Asp)
c.4505C>A (p.Ala1502Asp)
c.4601C>A (p.Ala1534Asp)
c.4547C>A (p.Ala1516Asp)
c.4508C>A (p.Ala1503Asp)
c.4457C>A (p.Ala1486Asp)
c.1589C>A (p.Ala530Asp)
18g.33744473C>GCA402191331ASXL3c.4628C>G (p.Ala1543Gly)
c.4625C>G (p.Ala1542Gly)
c.4505C>G (p.Ala1502Gly)
c.4601C>G (p.Ala1534Gly)
c.4547C>G (p.Ala1516Gly)
c.4508C>G (p.Ala1503Gly)
c.4457C>G (p.Ala1486Gly)
c.1589C>G (p.Ala530Gly)
 gnomAD v4
18g.33744473C>TCA402191332ASXL3c.4628C>T (p.Ala1543Val)
c.4625C>T (p.Ala1542Val)
c.4505C>T (p.Ala1502Val)
c.4601C>T (p.Ala1534Val)
c.4547C>T (p.Ala1516Val)
c.4508C>T (p.Ala1503Val)
c.4457C>T (p.Ala1486Val)
c.1589C>T (p.Ala530Val)
18g.33744474T>ACA503770442ASXL3c.4629T>A (p.Ala1543=)
c.4626T>A (p.Ala1542=)
c.4506T>A (p.Ala1502=)
c.4602T>A (p.Ala1534=)
c.4548T>A (p.Ala1516=)
c.4509T>A (p.Ala1503=)
c.4458T>A (p.Ala1486=)
c.1590T>A (p.Ala530=)
18g.33744474T>CCA503770436ASXL3c.4629T>C (p.Ala1543=)
c.4626T>C (p.Ala1542=)
c.4506T>C (p.Ala1502=)
c.4602T>C (p.Ala1534=)
c.4548T>C (p.Ala1516=)
c.4509T>C (p.Ala1503=)
c.4458T>C (p.Ala1486=)
c.1590T>C (p.Ala530=)
18g.33744474T>GCA503770434ASXL3c.4629T>G (p.Ala1543=)
c.4626T>G (p.Ala1542=)
c.4506T>G (p.Ala1502=)
c.4602T>G (p.Ala1534=)
c.4548T>G (p.Ala1516=)
c.4509T>G (p.Ala1503=)
c.4458T>G (p.Ala1486=)
c.1590T>G (p.Ala530=)
 COSMIC
18g.33744475T>ACA402191333ASXL3c.4630T>A (p.Ser1544Thr)
c.4627T>A (p.Ser1543Thr)
c.4507T>A (p.Ser1503Thr)
c.4603T>A (p.Ser1535Thr)
c.4549T>A (p.Ser1517Thr)
c.4510T>A (p.Ser1504Thr)
c.4459T>A (p.Ser1487Thr)
c.1591T>A (p.Ser531Thr)
18g.33744475T>CCA402191334ASXL3c.4630T>C (p.Ser1544Pro)
c.4627T>C (p.Ser1543Pro)
c.4507T>C (p.Ser1503Pro)
c.4603T>C (p.Ser1535Pro)
c.4549T>C (p.Ser1517Pro)
c.4510T>C (p.Ser1504Pro)
c.4459T>C (p.Ser1487Pro)
c.1591T>C (p.Ser531Pro)
18g.33744475T>GCA402191335ASXL3c.4630T>G (p.Ser1544Ala)
c.4627T>G (p.Ser1543Ala)
c.4507T>G (p.Ser1503Ala)
c.4603T>G (p.Ser1535Ala)
c.4549T>G (p.Ser1517Ala)
c.4510T>G (p.Ser1504Ala)
c.4459T>G (p.Ser1487Ala)
c.1591T>G (p.Ser531Ala)
18g.33744476C>ACA402191336ASXL3c.4631C>A (p.Ser1544Ter)
c.4628C>A (p.Ser1543Ter)
c.4508C>A (p.Ser1503Ter)
c.4604C>A (p.Ser1535Ter)
c.4550C>A (p.Ser1517Ter)
c.4511C>A (p.Ser1504Ter)
c.4460C>A (p.Ser1487Ter)
c.1592C>A (p.Ser531Ter)
18g.33744476C=CA2294858153ASXL3c.4631C= (p.Ser1544=)
c.4628C= (p.Ser1543=)
c.4508C= (p.Ser1503=)
c.4604C= (p.Ser1535=)
c.4550C= (p.Ser1517=)
c.4511C= (p.Ser1504=)
c.4460C= (p.Ser1487=)
c.1592C= (p.Ser531=)
18g.33744476C>GCA402191337ASXL3c.4631C>G (p.Ser1544Trp)
c.4628C>G (p.Ser1543Trp)
c.4508C>G (p.Ser1503Trp)
c.4604C>G (p.Ser1535Trp)
c.4550C>G (p.Ser1517Trp)
c.4511C>G (p.Ser1504Trp)
c.4460C>G (p.Ser1487Trp)
c.1592C>G (p.Ser531Trp)
18g.33744476C>TCA8934297ASXL3c.4631C>T (p.Ser1544Leu)
c.4628C>T (p.Ser1543Leu)
c.4508C>T (p.Ser1503Leu)
c.4604C>T (p.Ser1535Leu)
c.4550C>T (p.Ser1517Leu)
c.4511C>T (p.Ser1504Leu)
c.4460C>T (p.Ser1487Leu)
c.1592C>T (p.Ser531Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.33744477G>ACA8934298ASXL3c.4632G>A (p.Ser1544=)
c.4629G>A (p.Ser1543=)
c.4509G>A (p.Ser1503=)
c.4605G>A (p.Ser1535=)
c.4551G>A (p.Ser1517=)
c.4512G>A (p.Ser1504=)
c.4461G>A (p.Ser1487=)
c.1593G>A (p.Ser531=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.33744477G>CCA503770450ASXL3c.4632G>C (p.Ser1544=)
c.4629G>C (p.Ser1543=)
c.4509G>C (p.Ser1503=)
c.4605G>C (p.Ser1535=)
c.4551G>C (p.Ser1517=)
c.4512G>C (p.Ser1504=)
c.4461G>C (p.Ser1487=)
c.1593G>C (p.Ser531=)
18g.33744477G=CA2294858154ASXL3c.4632G= (p.Ser1544=)
c.4629G= (p.Ser1543=)
c.4509G= (p.Ser1503=)
c.4605G= (p.Ser1535=)
c.4551G= (p.Ser1517=)
c.4512G= (p.Ser1504=)
c.4461G= (p.Ser1487=)
c.1593G= (p.Ser531=)
18g.33744477G>TCA503770452ASXL3c.4632G>T (p.Ser1544=)
c.4629G>T (p.Ser1543=)
c.4509G>T (p.Ser1503=)
c.4605G>T (p.Ser1535=)
c.4551G>T (p.Ser1517=)
c.4512G>T (p.Ser1504=)
c.4461G>T (p.Ser1487=)
c.1593G>T (p.Ser531=)
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=)

Number of alleles fetched