Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.33744301_33744307delinsTTGTCTCCA2294858079ASXL3c.4456_4462delinsTTGTCTC (p.Leu1486=)
c.4453_4459delinsTTGTCTC (p.Leu1485=)
c.4333_4339delinsTTGTCTC (p.Leu1445=)
c.4429_4435delinsTTGTCTC (p.Leu1477=)
c.4375_4381delinsTTGTCTC (p.Leu1459=)
c.4336_4342delinsTTGTCTC (p.Leu1446=)
c.4285_4291delinsTTGTCTC (p.Leu1429=)
c.1417_1423delinsTTGTCTC (p.Leu473=)
18g.33744304_33744309delCA2294858080ASXL3c.4459_4464del (p.Ser1487_Leu1488del)
c.4456_4461del (p.Ser1486_Leu1487del)
c.4336_4341del (p.Ser1446_Leu1447del)
c.4432_4437del (p.Ser1478_Leu1479del)
c.4378_4383del (p.Ser1460_Leu1461del)
c.4339_4344del (p.Ser1447_Leu1448del)
c.4288_4293del (p.Ser1430_Leu1431del)
c.1420_1425del (p.Ser474_Leu475del)
 ClinVar dbSNP
18g.33744306_33744310delinsTCTGACA2294858083ASXL3c.4461_4465delinsTCTGA (p.Ser1487=)
c.4458_4462delinsTCTGA (p.Ser1486=)
c.4338_4342delinsTCTGA (p.Ser1446=)
c.4434_4438delinsTCTGA (p.Ser1478=)
c.4380_4384delinsTCTGA (p.Ser1460=)
c.4341_4345delinsTCTGA (p.Ser1447=)
c.4290_4294delinsTCTGA (p.Ser1430=)
c.1422_1426delinsTCTGA (p.Ser474=)
18g.33744307C>ACA402190979ASXL3c.4462C>A (p.Leu1488Met)
c.4459C>A (p.Leu1487Met)
c.4339C>A (p.Leu1447Met)
c.4435C>A (p.Leu1479Met)
c.4381C>A (p.Leu1461Met)
c.4342C>A (p.Leu1448Met)
c.4291C>A (p.Leu1431Met)
c.1423C>A (p.Leu475Met)
18g.33744307C>GCA402190977ASXL3c.4462C>G (p.Leu1488Val)
c.4459C>G (p.Leu1487Val)
c.4339C>G (p.Leu1447Val)
c.4435C>G (p.Leu1479Val)
c.4381C>G (p.Leu1461Val)
c.4342C>G (p.Leu1448Val)
c.4291C>G (p.Leu1431Val)
c.1423C>G (p.Leu475Val)
18g.33744307C>TCA503770386ASXL3c.4462C>T (p.Leu1488=)
c.4459C>T (p.Leu1487=)
c.4339C>T (p.Leu1447=)
c.4435C>T (p.Leu1479=)
c.4381C>T (p.Leu1461=)
c.4342C>T (p.Leu1448=)
c.4291C>T (p.Leu1431=)
c.1423C>T (p.Leu475=)
18g.33744310_33744313delCA915952509ASXL3c.4465_4468del (p.Thr1489SerfsTer17)
c.4462_4465del (p.Thr1488SerfsTer17)
c.4342_4345del (p.Thr1448SerfsTer17)
c.4438_4441del (p.Thr1480SerfsTer17)
c.4384_4387del (p.Thr1462SerfsTer17)
c.4345_4348del (p.Thr1449SerfsTer17)
c.4294_4297del (p.Thr1432SerfsTer17)
c.1426_1429del (p.Thr476SerfsTer17)
 ClinVar dbSNP
18g.33744308T>ACA402190983ASXL3c.4463T>A (p.Leu1488Gln)
c.4460T>A (p.Leu1487Gln)
c.4340T>A (p.Leu1447Gln)
c.4436T>A (p.Leu1479Gln)
c.4382T>A (p.Leu1461Gln)
c.4343T>A (p.Leu1448Gln)
c.4292T>A (p.Leu1431Gln)
c.1424T>A (p.Leu475Gln)
18g.33744308T>CCA402190985ASXL3c.4463T>C (p.Leu1488Pro)
c.4460T>C (p.Leu1487Pro)
c.4340T>C (p.Leu1447Pro)
c.4436T>C (p.Leu1479Pro)
c.4382T>C (p.Leu1461Pro)
c.4343T>C (p.Leu1448Pro)
c.4292T>C (p.Leu1431Pro)
c.1424T>C (p.Leu475Pro)
18g.33744308T>GCA402190986ASXL3c.4463T>G (p.Leu1488Arg)
c.4460T>G (p.Leu1487Arg)
c.4340T>G (p.Leu1447Arg)
c.4436T>G (p.Leu1479Arg)
c.4382T>G (p.Leu1461Arg)
c.4343T>G (p.Leu1448Arg)
c.4292T>G (p.Leu1431Arg)
c.1424T>G (p.Leu475Arg)
 gnomAD v4
18g.33744308dupCA658791385ASXL3c.4463dup (p.Thr1489AspfsTer5)
c.4460dup (p.Thr1488AspfsTer5)
c.4340dup (p.Thr1448AspfsTer5)
c.4436dup (p.Thr1480AspfsTer5)
c.4382dup (p.Thr1462AspfsTer5)
c.4343dup (p.Thr1449AspfsTer5)
c.4292dup (p.Thr1432AspfsTer5)
c.1424dup (p.Thr476AspfsTer5)
18g.33744309G>ACA503770390ASXL3c.4464G>A (p.Leu1488=)
c.4461G>A (p.Leu1487=)
c.4341G>A (p.Leu1447=)
c.4437G>A (p.Leu1479=)
c.4383G>A (p.Leu1461=)
c.4344G>A (p.Leu1448=)
c.4293G>A (p.Leu1431=)
c.1425G>A (p.Leu475=)
18g.33744309G>CCA503770392ASXL3c.4464G>C (p.Leu1488=)
c.4461G>C (p.Leu1487=)
c.4341G>C (p.Leu1447=)
c.4437G>C (p.Leu1479=)
c.4383G>C (p.Leu1461=)
c.4344G>C (p.Leu1448=)
c.4293G>C (p.Leu1431=)
c.1425G>C (p.Leu475=)
18g.33744309G>TCA503770393ASXL3c.4464G>T (p.Leu1488=)
c.4461G>T (p.Leu1487=)
c.4341G>T (p.Leu1447=)
c.4437G>T (p.Leu1479=)
c.4383G>T (p.Leu1461=)
c.4344G>T (p.Leu1448=)
c.4293G>T (p.Leu1431=)
c.1425G>T (p.Leu475=)
18g.33744310A>CCA402190988ASXL3c.4465A>C (p.Thr1489Pro)
c.4462A>C (p.Thr1488Pro)
c.4342A>C (p.Thr1448Pro)
c.4438A>C (p.Thr1480Pro)
c.4384A>C (p.Thr1462Pro)
c.4345A>C (p.Thr1449Pro)
c.4294A>C (p.Thr1432Pro)
c.1426A>C (p.Thr476Pro)
18g.33744310A>GCA402190989ASXL3c.4465A>G (p.Thr1489Ala)
c.4462A>G (p.Thr1488Ala)
c.4342A>G (p.Thr1448Ala)
c.4438A>G (p.Thr1480Ala)
c.4384A>G (p.Thr1462Ala)
c.4345A>G (p.Thr1449Ala)
c.4294A>G (p.Thr1432Ala)
c.1426A>G (p.Thr476Ala)
18g.33744310A>TCA402190990ASXL3c.4465A>T (p.Thr1489Ser)
c.4462A>T (p.Thr1488Ser)
c.4342A>T (p.Thr1448Ser)
c.4438A>T (p.Thr1480Ser)
c.4384A>T (p.Thr1462Ser)
c.4345A>T (p.Thr1449Ser)
c.4294A>T (p.Thr1432Ser)
c.1426A>T (p.Thr476Ser)
18g.33744311C>ACA402190993ASXL3c.4466C>A (p.Thr1489Asn)
c.4463C>A (p.Thr1488Asn)
c.4343C>A (p.Thr1448Asn)
c.4439C>A (p.Thr1480Asn)
c.4385C>A (p.Thr1462Asn)
c.4346C>A (p.Thr1449Asn)
c.4295C>A (p.Thr1432Asn)
c.1427C>A (p.Thr476Asn)
18g.33744311C>GCA402190991ASXL3c.4466C>G (p.Thr1489Ser)
c.4463C>G (p.Thr1488Ser)
c.4343C>G (p.Thr1448Ser)
c.4439C>G (p.Thr1480Ser)
c.4385C>G (p.Thr1462Ser)
c.4346C>G (p.Thr1449Ser)
c.4295C>G (p.Thr1432Ser)
c.1427C>G (p.Thr476Ser)
18g.33744311C>TCA402190992ASXL3c.4466C>T (p.Thr1489Ile)
c.4463C>T (p.Thr1488Ile)
c.4343C>T (p.Thr1448Ile)
c.4439C>T (p.Thr1480Ile)
c.4385C>T (p.Thr1462Ile)
c.4346C>T (p.Thr1449Ile)
c.4295C>T (p.Thr1432Ile)
c.1427C>T (p.Thr476Ile)
18g.33744312T>ACA503770396ASXL3c.4467T>A (p.Thr1489=)
c.4464T>A (p.Thr1488=)
c.4344T>A (p.Thr1448=)
c.4440T>A (p.Thr1480=)
c.4386T>A (p.Thr1462=)
c.4347T>A (p.Thr1449=)
c.4296T>A (p.Thr1432=)
c.1428T>A (p.Thr476=)
18g.33744312T>CCA503770398ASXL3c.4467T>C (p.Thr1489=)
c.4464T>C (p.Thr1488=)
c.4344T>C (p.Thr1448=)
c.4440T>C (p.Thr1480=)
c.4386T>C (p.Thr1462=)
c.4347T>C (p.Thr1449=)
c.4296T>C (p.Thr1432=)
c.1428T>C (p.Thr476=)
18g.33744312T>GCA503770400ASXL3c.4467T>G (p.Thr1489=)
c.4464T>G (p.Thr1488=)
c.4344T>G (p.Thr1448=)
c.4440T>G (p.Thr1480=)
c.4386T>G (p.Thr1462=)
c.4347T>G (p.Thr1449=)
c.4296T>G (p.Thr1432=)
c.1428T>G (p.Thr476=)
18g.33744313G>ACA402190994ASXL3c.4468G>A (p.Val1490Ile)
c.4465G>A (p.Val1489Ile)
c.4345G>A (p.Val1449Ile)
c.4441G>A (p.Val1481Ile)
c.4387G>A (p.Val1463Ile)
c.4348G>A (p.Val1450Ile)
c.4297G>A (p.Val1433Ile)
c.1429G>A (p.Val477Ile)
 gnomAD v4
18g.33744313G>CCA8934266ASXL3c.4468G>C (p.Val1490Leu)
c.4465G>C (p.Val1489Leu)
c.4345G>C (p.Val1449Leu)
c.4441G>C (p.Val1481Leu)
c.4387G>C (p.Val1463Leu)
c.4348G>C (p.Val1450Leu)
c.4297G>C (p.Val1433Leu)
c.1429G>C (p.Val477Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744313G=CA2294858084ASXL3c.4468G= (p.Val1490=)
c.4465G= (p.Val1489=)
c.4345G= (p.Val1449=)
c.4441G= (p.Val1481=)
c.4387G= (p.Val1463=)
c.4348G= (p.Val1450=)
c.4297G= (p.Val1433=)
c.1429G= (p.Val477=)
18g.33744313G>TCA402190995ASXL3c.4468G>T (p.Val1490Phe)
c.4465G>T (p.Val1489Phe)
c.4345G>T (p.Val1449Phe)
c.4441G>T (p.Val1481Phe)
c.4387G>T (p.Val1463Phe)
c.4348G>T (p.Val1450Phe)
c.4297G>T (p.Val1433Phe)
c.1429G>T (p.Val477Phe)
18g.33744314T>ACA402190996ASXL3c.4469T>A (p.Val1490Asp)
c.4466T>A (p.Val1489Asp)
c.4346T>A (p.Val1449Asp)
c.4442T>A (p.Val1481Asp)
c.4388T>A (p.Val1463Asp)
c.4349T>A (p.Val1450Asp)
c.4298T>A (p.Val1433Asp)
c.1430T>A (p.Val477Asp)
 dbSNP gnomAD v2 gnomAD v4
18g.33744314T>CCA402190997ASXL3c.4469T>C (p.Val1490Ala)
c.4466T>C (p.Val1489Ala)
c.4346T>C (p.Val1449Ala)
c.4442T>C (p.Val1481Ala)
c.4388T>C (p.Val1463Ala)
c.4349T>C (p.Val1450Ala)
c.4298T>C (p.Val1433Ala)
c.1430T>C (p.Val477Ala)
 gnomAD v4
18g.33744314T>GCA402190998ASXL3c.4469T>G (p.Val1490Gly)
c.4466T>G (p.Val1489Gly)
c.4346T>G (p.Val1449Gly)
c.4442T>G (p.Val1481Gly)
c.4388T>G (p.Val1463Gly)
c.4349T>G (p.Val1450Gly)
c.4298T>G (p.Val1433Gly)
c.1430T>G (p.Val477Gly)
18g.33744314T=CA2294858085ASXL3c.4469T= (p.Val1490=)
c.4466T= (p.Val1489=)
c.4346T= (p.Val1449=)
c.4442T= (p.Val1481=)
c.4388T= (p.Val1463=)
c.4349T= (p.Val1450=)
c.4298T= (p.Val1433=)
c.1430T= (p.Val477=)
18g.33744315C>ACA503770404ASXL3c.4470C>A (p.Val1490=)
c.4467C>A (p.Val1489=)
c.4347C>A (p.Val1449=)
c.4443C>A (p.Val1481=)
c.4389C>A (p.Val1463=)
c.4350C>A (p.Val1450=)
c.4299C>A (p.Val1433=)
c.1431C>A (p.Val477=)
18g.33744315C>GCA503770405ASXL3c.4470C>G (p.Val1490=)
c.4467C>G (p.Val1489=)
c.4347C>G (p.Val1449=)
c.4443C>G (p.Val1481=)
c.4389C>G (p.Val1463=)
c.4350C>G (p.Val1450=)
c.4299C>G (p.Val1433=)
c.1431C>G (p.Val477=)
18g.33744315C>TCA503770406ASXL3c.4470C>T (p.Val1490=)
c.4467C>T (p.Val1489=)
c.4347C>T (p.Val1449=)
c.4443C>T (p.Val1481=)
c.4389C>T (p.Val1463=)
c.4350C>T (p.Val1450=)
c.4299C>T (p.Val1433=)
c.1431C>T (p.Val477=)
18g.33744315_33744323delCA2641457827ASXL3c.4470_4478del (p.Ser1491_Glu1493del)
c.4467_4475del (p.Ser1490_Glu1492del)
c.4347_4355del (p.Ser1450_Glu1452del)
c.4443_4451del (p.Ser1482_Glu1484del)
c.4389_4397del (p.Ser1464_Glu1466del)
c.4350_4358del (p.Ser1451_Glu1453del)
c.4299_4307del (p.Ser1434_Glu1436del)
c.1431_1439del (p.Ser478_Glu480del)
 gnomAD v4
18g.33744316T>ACA402190999ASXL3c.4471T>A (p.Ser1491Thr)
c.4468T>A (p.Ser1490Thr)
c.4348T>A (p.Ser1450Thr)
c.4444T>A (p.Ser1482Thr)
c.4390T>A (p.Ser1464Thr)
c.4351T>A (p.Ser1451Thr)
c.4300T>A (p.Ser1434Thr)
c.1432T>A (p.Ser478Thr)
18g.33744316T>CCA8934267ASXL3c.4471T>C (p.Ser1491Pro)
c.4468T>C (p.Ser1490Pro)
c.4348T>C (p.Ser1450Pro)
c.4444T>C (p.Ser1482Pro)
c.4390T>C (p.Ser1464Pro)
c.4351T>C (p.Ser1451Pro)
c.4300T>C (p.Ser1434Pro)
c.1432T>C (p.Ser478Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744316T>GCA402191000ASXL3c.4471T>G (p.Ser1491Ala)
c.4468T>G (p.Ser1490Ala)
c.4348T>G (p.Ser1450Ala)
c.4444T>G (p.Ser1482Ala)
c.4390T>G (p.Ser1464Ala)
c.4351T>G (p.Ser1451Ala)
c.4300T>G (p.Ser1434Ala)
c.1432T>G (p.Ser478Ala)
18g.33744316T=CA2294858086ASXL3c.4471T= (p.Ser1491=)
c.4468T= (p.Ser1490=)
c.4348T= (p.Ser1450=)
c.4444T= (p.Ser1482=)
c.4390T= (p.Ser1464=)
c.4351T= (p.Ser1451=)
c.4300T= (p.Ser1434=)
c.1432T= (p.Ser478=)
18g.33744317C>ACA402191001ASXL3c.4472C>A (p.Ser1491Tyr)
c.4469C>A (p.Ser1490Tyr)
c.4349C>A (p.Ser1450Tyr)
c.4445C>A (p.Ser1482Tyr)
c.4391C>A (p.Ser1464Tyr)
c.4352C>A (p.Ser1451Tyr)
c.4301C>A (p.Ser1434Tyr)
c.1433C>A (p.Ser478Tyr)
18g.33744317C=CA2294858087ASXL3c.4472C= (p.Ser1491=)
c.4469C= (p.Ser1490=)
c.4349C= (p.Ser1450=)
c.4445C= (p.Ser1482=)
c.4391C= (p.Ser1464=)
c.4352C= (p.Ser1451=)
c.4301C= (p.Ser1434=)
c.1433C= (p.Ser478=)
18g.33744317C>GCA297793627ASXL3c.4472C>G (p.Ser1491Cys)
c.4469C>G (p.Ser1490Cys)
c.4349C>G (p.Ser1450Cys)
c.4445C>G (p.Ser1482Cys)
c.4391C>G (p.Ser1464Cys)
c.4352C>G (p.Ser1451Cys)
c.4301C>G (p.Ser1434Cys)
c.1433C>G (p.Ser478Cys)
 dbSNP
18g.33744317C>TCA402191002ASXL3c.4472C>T (p.Ser1491Phe)
c.4469C>T (p.Ser1490Phe)
c.4349C>T (p.Ser1450Phe)
c.4445C>T (p.Ser1482Phe)
c.4391C>T (p.Ser1464Phe)
c.4352C>T (p.Ser1451Phe)
c.4301C>T (p.Ser1434Phe)
c.1433C>T (p.Ser478Phe)
18g.33744318C>ACA503770412ASXL3c.4473C>A (p.Ser1491=)
c.4470C>A (p.Ser1490=)
c.4350C>A (p.Ser1450=)
c.4446C>A (p.Ser1482=)
c.4392C>A (p.Ser1464=)
c.4353C>A (p.Ser1451=)
c.4302C>A (p.Ser1434=)
c.1434C>A (p.Ser478=)
 gnomAD v4 COSMIC
18g.33744318C=CA2294858088ASXL3c.4473C= (p.Ser1491=)
c.4470C= (p.Ser1490=)
c.4350C= (p.Ser1450=)
c.4446C= (p.Ser1482=)
c.4392C= (p.Ser1464=)
c.4353C= (p.Ser1451=)
c.4302C= (p.Ser1434=)
c.1434C= (p.Ser478=)
18g.33744318C>GCA503770413ASXL3c.4473C>G (p.Ser1491=)
c.4470C>G (p.Ser1490=)
c.4350C>G (p.Ser1450=)
c.4446C>G (p.Ser1482=)
c.4392C>G (p.Ser1464=)
c.4353C>G (p.Ser1451=)
c.4302C>G (p.Ser1434=)
c.1434C>G (p.Ser478=)
 dbSNP gnomAD v3 gnomAD v4
18g.33744318C>TCA8934268ASXL3c.4473C>T (p.Ser1491=)
c.4470C>T (p.Ser1490=)
c.4350C>T (p.Ser1450=)
c.4446C>T (p.Ser1482=)
c.4392C>T (p.Ser1464=)
c.4353C>T (p.Ser1451=)
c.4302C>T (p.Ser1434=)
c.1434C>T (p.Ser478=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744319G>ACA8934269ASXL3c.4474G>A (p.Val1492Ile)
c.4471G>A (p.Val1491Ile)
c.4351G>A (p.Val1451Ile)
c.4447G>A (p.Val1483Ile)
c.4393G>A (p.Val1465Ile)
c.4354G>A (p.Val1452Ile)
c.4303G>A (p.Val1435Ile)
c.1435G>A (p.Val479Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744319G>CCA402191003ASXL3c.4474G>C (p.Val1492Leu)
c.4471G>C (p.Val1491Leu)
c.4351G>C (p.Val1451Leu)
c.4447G>C (p.Val1483Leu)
c.4393G>C (p.Val1465Leu)
c.4354G>C (p.Val1452Leu)
c.4303G>C (p.Val1435Leu)
c.1435G>C (p.Val479Leu)
18g.33744319G=CA2294858089ASXL3c.4474G= (p.Val1492=)
c.4471G= (p.Val1491=)
c.4351G= (p.Val1451=)
c.4447G= (p.Val1483=)
c.4393G= (p.Val1465=)
c.4354G= (p.Val1452=)
c.4303G= (p.Val1435=)
c.1435G= (p.Val479=)
18g.33744319G>TCA8934270ASXL3c.4474G>T (p.Val1492Phe)
c.4471G>T (p.Val1491Phe)
c.4351G>T (p.Val1451Phe)
c.4447G>T (p.Val1483Phe)
c.4393G>T (p.Val1465Phe)
c.4354G>T (p.Val1452Phe)
c.4303G>T (p.Val1435Phe)
c.1435G>T (p.Val479Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744320T>ACA402191004ASXL3c.4475T>A (p.Val1492Asp)
c.4472T>A (p.Val1491Asp)
c.4352T>A (p.Val1451Asp)
c.4448T>A (p.Val1483Asp)
c.4394T>A (p.Val1465Asp)
c.4355T>A (p.Val1452Asp)
c.4304T>A (p.Val1435Asp)
c.1436T>A (p.Val479Asp)
18g.33744320T>CCA402191005ASXL3c.4475T>C (p.Val1492Ala)
c.4472T>C (p.Val1491Ala)
c.4352T>C (p.Val1451Ala)
c.4448T>C (p.Val1483Ala)
c.4394T>C (p.Val1465Ala)
c.4355T>C (p.Val1452Ala)
c.4304T>C (p.Val1435Ala)
c.1436T>C (p.Val479Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.33744320T>GCA402191006ASXL3c.4475T>G (p.Val1492Gly)
c.4472T>G (p.Val1491Gly)
c.4352T>G (p.Val1451Gly)
c.4448T>G (p.Val1483Gly)
c.4394T>G (p.Val1465Gly)
c.4355T>G (p.Val1452Gly)
c.4304T>G (p.Val1435Gly)
c.1436T>G (p.Val479Gly)
18g.33744320T=CA2294858090ASXL3c.4475T= (p.Val1492=)
c.4472T= (p.Val1491=)
c.4352T= (p.Val1451=)
c.4448T= (p.Val1483=)
c.4394T= (p.Val1465=)
c.4355T= (p.Val1452=)
c.4304T= (p.Val1435=)
c.1436T= (p.Val479=)
18g.33744321T>ACA503770418ASXL3c.4476T>A (p.Val1492=)
c.4473T>A (p.Val1491=)
c.4353T>A (p.Val1451=)
c.4449T>A (p.Val1483=)
c.4395T>A (p.Val1465=)
c.4356T>A (p.Val1452=)
c.4305T>A (p.Val1435=)
c.1437T>A (p.Val479=)
18g.33744321T>CCA503770419ASXL3c.4476T>C (p.Val1492=)
c.4473T>C (p.Val1491=)
c.4353T>C (p.Val1451=)
c.4449T>C (p.Val1483=)
c.4395T>C (p.Val1465=)
c.4356T>C (p.Val1452=)
c.4305T>C (p.Val1435=)
c.1437T>C (p.Val479=)
18g.33744321T>GCA503770420ASXL3c.4476T>G (p.Val1492=)
c.4473T>G (p.Val1491=)
c.4353T>G (p.Val1451=)
c.4449T>G (p.Val1483=)
c.4395T>G (p.Val1465=)
c.4356T>G (p.Val1452=)
c.4305T>G (p.Val1435=)
c.1437T>G (p.Val479=)
18g.33744322G>ACA402191007ASXL3c.4477G>A (p.Glu1493Lys)
c.4474G>A (p.Glu1492Lys)
c.4354G>A (p.Glu1452Lys)
c.4450G>A (p.Glu1484Lys)
c.4396G>A (p.Glu1466Lys)
c.4357G>A (p.Glu1453Lys)
c.4306G>A (p.Glu1436Lys)
c.1438G>A (p.Glu480Lys)
18g.33744322G>CCA402191008ASXL3c.4477G>C (p.Glu1493Gln)
c.4474G>C (p.Glu1492Gln)
c.4354G>C (p.Glu1452Gln)
c.4450G>C (p.Glu1484Gln)
c.4396G>C (p.Glu1466Gln)
c.4357G>C (p.Glu1453Gln)
c.4306G>C (p.Glu1436Gln)
c.1438G>C (p.Glu480Gln)
18g.33744322G>TCA402191009ASXL3c.4477G>T (p.Glu1493Ter)
c.4474G>T (p.Glu1492Ter)
c.4354G>T (p.Glu1452Ter)
c.4450G>T (p.Glu1484Ter)
c.4396G>T (p.Glu1466Ter)
c.4357G>T (p.Glu1453Ter)
c.4306G>T (p.Glu1436Ter)
c.1438G>T (p.Glu480Ter)
18g.33744323A>CCA402191012ASXL3c.4478A>C (p.Glu1493Ala)
c.4475A>C (p.Glu1492Ala)
c.4355A>C (p.Glu1452Ala)
c.4451A>C (p.Glu1484Ala)
c.4397A>C (p.Glu1466Ala)
c.4358A>C (p.Glu1453Ala)
c.4307A>C (p.Glu1436Ala)
c.1439A>C (p.Glu480Ala)
18g.33744323A>GCA402191010ASXL3c.4478A>G (p.Glu1493Gly)
c.4475A>G (p.Glu1492Gly)
c.4355A>G (p.Glu1452Gly)
c.4451A>G (p.Glu1484Gly)
c.4397A>G (p.Glu1466Gly)
c.4358A>G (p.Glu1453Gly)
c.4307A>G (p.Glu1436Gly)
c.1439A>G (p.Glu480Gly)
18g.33744323A>TCA402191011ASXL3c.4478A>T (p.Glu1493Val)
c.4475A>T (p.Glu1492Val)
c.4355A>T (p.Glu1452Val)
c.4451A>T (p.Glu1484Val)
c.4397A>T (p.Glu1466Val)
c.4358A>T (p.Glu1453Val)
c.4307A>T (p.Glu1436Val)
c.1439A>T (p.Glu480Val)
18g.33744324A>CCA402191013ASXL3c.4479A>C (p.Glu1493Asp)
c.4476A>C (p.Glu1492Asp)
c.4356A>C (p.Glu1452Asp)
c.4452A>C (p.Glu1484Asp)
c.4398A>C (p.Glu1466Asp)
c.4359A>C (p.Glu1453Asp)
c.4308A>C (p.Glu1436Asp)
c.1440A>C (p.Glu480Asp)
18g.33744324A>GCA503770425ASXL3c.4479A>G (p.Glu1493=)
c.4476A>G (p.Glu1492=)
c.4356A>G (p.Glu1452=)
c.4452A>G (p.Glu1484=)
c.4398A>G (p.Glu1466=)
c.4359A>G (p.Glu1453=)
c.4308A>G (p.Glu1436=)
c.1440A>G (p.Glu480=)
18g.33744324A>TCA402191014ASXL3c.4479A>T (p.Glu1493Asp)
c.4476A>T (p.Glu1492Asp)
c.4356A>T (p.Glu1452Asp)
c.4452A>T (p.Glu1484Asp)
c.4398A>T (p.Glu1466Asp)
c.4359A>T (p.Glu1453Asp)
c.4308A>T (p.Glu1436Asp)
c.1440A>T (p.Glu480Asp)
18g.33744325A>CCA402191015ASXL3c.4480A>C (p.Ser1494Arg)
c.4477A>C (p.Ser1493Arg)
c.4357A>C (p.Ser1453Arg)
c.4453A>C (p.Ser1485Arg)
c.4399A>C (p.Ser1467Arg)
c.4360A>C (p.Ser1454Arg)
c.4309A>C (p.Ser1437Arg)
c.1441A>C (p.Ser481Arg)
18g.33744325A>GCA402191016ASXL3c.4480A>G (p.Ser1494Gly)
c.4477A>G (p.Ser1493Gly)
c.4357A>G (p.Ser1453Gly)
c.4453A>G (p.Ser1485Gly)
c.4399A>G (p.Ser1467Gly)
c.4360A>G (p.Ser1454Gly)
c.4309A>G (p.Ser1437Gly)
c.1441A>G (p.Ser481Gly)
18g.33744325A>TCA402191017ASXL3c.4480A>T (p.Ser1494Cys)
c.4477A>T (p.Ser1493Cys)
c.4357A>T (p.Ser1453Cys)
c.4453A>T (p.Ser1485Cys)
c.4399A>T (p.Ser1467Cys)
c.4360A>T (p.Ser1454Cys)
c.4309A>T (p.Ser1437Cys)
c.1441A>T (p.Ser481Cys)
18g.33744327_33744331delCA2695227409ASXL3c.4482_4486del (p.Ser1494ArgfsTer29)
c.4479_4483del (p.Ser1493ArgfsTer29)
c.4359_4363del (p.Ser1453ArgfsTer29)
c.4455_4459del (p.Ser1485ArgfsTer29)
c.4401_4405del (p.Ser1467ArgfsTer29)
c.4362_4366del (p.Ser1454ArgfsTer29)
c.4311_4315del (p.Ser1437ArgfsTer29)
c.1443_1447del (p.Ser481ArgfsTer29)
18g.33744326G>ACA402191018ASXL3c.4481G>A (p.Ser1494Asn)
c.4478G>A (p.Ser1493Asn)
c.4358G>A (p.Ser1453Asn)
c.4454G>A (p.Ser1485Asn)
c.4400G>A (p.Ser1467Asn)
c.4361G>A (p.Ser1454Asn)
c.4310G>A (p.Ser1437Asn)
c.1442G>A (p.Ser481Asn)
 gnomAD v4
18g.33744326G>CCA402191020ASXL3c.4481G>C (p.Ser1494Thr)
c.4478G>C (p.Ser1493Thr)
c.4358G>C (p.Ser1453Thr)
c.4454G>C (p.Ser1485Thr)
c.4400G>C (p.Ser1467Thr)
c.4361G>C (p.Ser1454Thr)
c.4310G>C (p.Ser1437Thr)
c.1442G>C (p.Ser481Thr)
18g.33744326G>TCA402191019ASXL3c.4481G>T (p.Ser1494Ile)
c.4478G>T (p.Ser1493Ile)
c.4358G>T (p.Ser1453Ile)
c.4454G>T (p.Ser1485Ile)
c.4400G>T (p.Ser1467Ile)
c.4361G>T (p.Ser1454Ile)
c.4310G>T (p.Ser1437Ile)
c.1442G>T (p.Ser481Ile)
18g.33744327C>ACA402191021ASXL3c.4482C>A (p.Ser1494Arg)
c.4479C>A (p.Ser1493Arg)
c.4359C>A (p.Ser1453Arg)
c.4455C>A (p.Ser1485Arg)
c.4401C>A (p.Ser1467Arg)
c.4362C>A (p.Ser1454Arg)
c.4311C>A (p.Ser1437Arg)
c.1443C>A (p.Ser481Arg)
18g.33744327C>GCA402191022ASXL3c.4482C>G (p.Ser1494Arg)
c.4479C>G (p.Ser1493Arg)
c.4359C>G (p.Ser1453Arg)
c.4455C>G (p.Ser1485Arg)
c.4401C>G (p.Ser1467Arg)
c.4362C>G (p.Ser1454Arg)
c.4311C>G (p.Ser1437Arg)
c.1443C>G (p.Ser481Arg)
 gnomAD v4
18g.33744327C>TCA503770430ASXL3c.4482C>T (p.Ser1494=)
c.4479C>T (p.Ser1493=)
c.4359C>T (p.Ser1453=)
c.4455C>T (p.Ser1485=)
c.4401C>T (p.Ser1467=)
c.4362C>T (p.Ser1454=)
c.4311C>T (p.Ser1437=)
c.1443C>T (p.Ser481=)
18g.33744329_33744347delCA2695227410ASXL3c.4484_4502del (p.Ser1495CysfsTer6)
c.4481_4499del (p.Ser1494CysfsTer6)
c.4361_4379del (p.Ser1454CysfsTer6)
c.4457_4475del (p.Ser1486CysfsTer6)
c.4403_4421del (p.Ser1468CysfsTer6)
c.4364_4382del (p.Ser1455CysfsTer6)
c.4313_4331del (p.Ser1438CysfsTer6)
c.1445_1463del (p.Ser482CysfsTer6)
18g.33744328T>ACA402191023ASXL3c.4483T>A (p.Ser1495Thr)
c.4480T>A (p.Ser1494Thr)
c.4360T>A (p.Ser1454Thr)
c.4456T>A (p.Ser1486Thr)
c.4402T>A (p.Ser1468Thr)
c.4363T>A (p.Ser1455Thr)
c.4312T>A (p.Ser1438Thr)
c.1444T>A (p.Ser482Thr)
18g.33744328T>CCA402191024ASXL3c.4483T>C (p.Ser1495Pro)
c.4480T>C (p.Ser1494Pro)
c.4360T>C (p.Ser1454Pro)
c.4456T>C (p.Ser1486Pro)
c.4402T>C (p.Ser1468Pro)
c.4363T>C (p.Ser1455Pro)
c.4312T>C (p.Ser1438Pro)
c.1444T>C (p.Ser482Pro)
 gnomAD v4
18g.33744328T>GCA402191025ASXL3c.4483T>G (p.Ser1495Ala)
c.4480T>G (p.Ser1494Ala)
c.4360T>G (p.Ser1454Ala)
c.4456T>G (p.Ser1486Ala)
c.4402T>G (p.Ser1468Ala)
c.4363T>G (p.Ser1455Ala)
c.4312T>G (p.Ser1438Ala)
c.1444T>G (p.Ser482Ala)
18g.33744329C>ACA402191026ASXL3c.4484C>A (p.Ser1495Ter)
c.4481C>A (p.Ser1494Ter)
c.4361C>A (p.Ser1454Ter)
c.4457C>A (p.Ser1486Ter)
c.4403C>A (p.Ser1468Ter)
c.4364C>A (p.Ser1455Ter)
c.4313C>A (p.Ser1438Ter)
c.1445C>A (p.Ser482Ter)
18g.33744329C=CA2294858091ASXL3c.4484C= (p.Ser1495=)
c.4481C= (p.Ser1494=)
c.4361C= (p.Ser1454=)
c.4457C= (p.Ser1486=)
c.4403C= (p.Ser1468=)
c.4364C= (p.Ser1455=)
c.4313C= (p.Ser1438=)
c.1445C= (p.Ser482=)
18g.33744329C>GCA402191027ASXL3c.4484C>G (p.Ser1495Ter)
c.4481C>G (p.Ser1494Ter)
c.4361C>G (p.Ser1454Ter)
c.4457C>G (p.Ser1486Ter)
c.4403C>G (p.Ser1468Ter)
c.4364C>G (p.Ser1455Ter)
c.4313C>G (p.Ser1438Ter)
c.1445C>G (p.Ser482Ter)
18g.33744329C>TCA8934271ASXL3c.4484C>T (p.Ser1495Leu)
c.4481C>T (p.Ser1494Leu)
c.4361C>T (p.Ser1454Leu)
c.4457C>T (p.Ser1486Leu)
c.4403C>T (p.Ser1468Leu)
c.4364C>T (p.Ser1455Leu)
c.4313C>T (p.Ser1438Leu)
c.1445C>T (p.Ser482Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744330A>CCA503770438ASXL3c.4485A>C (p.Ser1495=)
c.4482A>C (p.Ser1494=)
c.4362A>C (p.Ser1454=)
c.4458A>C (p.Ser1486=)
c.4404A>C (p.Ser1468=)
c.4365A>C (p.Ser1455=)
c.4314A>C (p.Ser1438=)
c.1446A>C (p.Ser482=)
 ClinVar
18g.33744330A>GCA503770441ASXL3c.4485A>G (p.Ser1495=)
c.4482A>G (p.Ser1494=)
c.4362A>G (p.Ser1454=)
c.4458A>G (p.Ser1486=)
c.4404A>G (p.Ser1468=)
c.4365A>G (p.Ser1455=)
c.4314A>G (p.Ser1438=)
c.1446A>G (p.Ser482=)
18g.33744330A>TCA503770443ASXL3c.4485A>T (p.Ser1495=)
c.4482A>T (p.Ser1494=)
c.4362A>T (p.Ser1454=)
c.4458A>T (p.Ser1486=)
c.4404A>T (p.Ser1468=)
c.4365A>T (p.Ser1455=)
c.4314A>T (p.Ser1438=)
c.1446A>T (p.Ser482=)
18g.33744331G>ACA402191028ASXL3c.4486G>A (p.Glu1496Lys)
c.4483G>A (p.Glu1495Lys)
c.4363G>A (p.Glu1455Lys)
c.4459G>A (p.Glu1487Lys)
c.4405G>A (p.Glu1469Lys)
c.4366G>A (p.Glu1456Lys)
c.4315G>A (p.Glu1439Lys)
c.1447G>A (p.Glu483Lys)
18g.33744331G>CCA402191029ASXL3c.4486G>C (p.Glu1496Gln)
c.4483G>C (p.Glu1495Gln)
c.4363G>C (p.Glu1455Gln)
c.4459G>C (p.Glu1487Gln)
c.4405G>C (p.Glu1469Gln)
c.4366G>C (p.Glu1456Gln)
c.4315G>C (p.Glu1439Gln)
c.1447G>C (p.Glu483Gln)
18g.33744331G>TCA402191030ASXL3c.4486G>T (p.Glu1496Ter)
c.4483G>T (p.Glu1495Ter)
c.4363G>T (p.Glu1455Ter)
c.4459G>T (p.Glu1487Ter)
c.4405G>T (p.Glu1469Ter)
c.4366G>T (p.Glu1456Ter)
c.4315G>T (p.Glu1439Ter)
c.1447G>T (p.Glu483Ter)
18g.33744332A>CCA402191031ASXL3c.4487A>C (p.Glu1496Ala)
c.4484A>C (p.Glu1495Ala)
c.4364A>C (p.Glu1455Ala)
c.4460A>C (p.Glu1487Ala)
c.4406A>C (p.Glu1469Ala)
c.4367A>C (p.Glu1456Ala)
c.4316A>C (p.Glu1439Ala)
c.1448A>C (p.Glu483Ala)
18g.33744332A>GCA402191033ASXL3c.4487A>G (p.Glu1496Gly)
c.4484A>G (p.Glu1495Gly)
c.4364A>G (p.Glu1455Gly)
c.4460A>G (p.Glu1487Gly)
c.4406A>G (p.Glu1469Gly)
c.4367A>G (p.Glu1456Gly)
c.4316A>G (p.Glu1439Gly)
c.1448A>G (p.Glu483Gly)
18g.33744332A>TCA402191032ASXL3c.4487A>T (p.Glu1496Val)
c.4484A>T (p.Glu1495Val)
c.4364A>T (p.Glu1455Val)
c.4460A>T (p.Glu1487Val)
c.4406A>T (p.Glu1469Val)
c.4367A>T (p.Glu1456Val)
c.4316A>T (p.Glu1439Val)
c.1448A>T (p.Glu483Val)
18g.33744333A>CCA402191034ASXL3c.4488A>C (p.Glu1496Asp)
c.4485A>C (p.Glu1495Asp)
c.4365A>C (p.Glu1455Asp)
c.4461A>C (p.Glu1487Asp)
c.4407A>C (p.Glu1469Asp)
c.4368A>C (p.Glu1456Asp)
c.4317A>C (p.Glu1439Asp)
c.1449A>C (p.Glu483Asp)
18g.33744333A>GCA503770449ASXL3c.4488A>G (p.Glu1496=)
c.4485A>G (p.Glu1495=)
c.4365A>G (p.Glu1455=)
c.4461A>G (p.Glu1487=)
c.4407A>G (p.Glu1469=)
c.4368A>G (p.Glu1456=)
c.4317A>G (p.Glu1439=)
c.1449A>G (p.Glu483=)
18g.33744333A>TCA402191035ASXL3c.4488A>T (p.Glu1496Asp)
c.4485A>T (p.Glu1495Asp)
c.4365A>T (p.Glu1455Asp)
c.4461A>T (p.Glu1487Asp)
c.4407A>T (p.Glu1469Asp)
c.4368A>T (p.Glu1456Asp)
c.4317A>T (p.Glu1439Asp)
c.1449A>T (p.Glu483Asp)
18g.33744334G>ACA402191036ASXL3c.4489G>A (p.Ala1497Thr)
c.4486G>A (p.Ala1496Thr)
c.4366G>A (p.Ala1456Thr)
c.4462G>A (p.Ala1488Thr)
c.4408G>A (p.Ala1470Thr)
c.4369G>A (p.Ala1457Thr)
c.4318G>A (p.Ala1440Thr)
c.1450G>A (p.Ala484Thr)
18g.33744334G>CCA402191037ASXL3c.4489G>C (p.Ala1497Pro)
c.4486G>C (p.Ala1496Pro)
c.4366G>C (p.Ala1456Pro)
c.4462G>C (p.Ala1488Pro)
c.4408G>C (p.Ala1470Pro)
c.4369G>C (p.Ala1457Pro)
c.4318G>C (p.Ala1440Pro)
c.1450G>C (p.Ala484Pro)
18g.33744334G>TCA402191038ASXL3c.4489G>T (p.Ala1497Ser)
c.4486G>T (p.Ala1496Ser)
c.4366G>T (p.Ala1456Ser)
c.4462G>T (p.Ala1488Ser)
c.4408G>T (p.Ala1470Ser)
c.4369G>T (p.Ala1457Ser)
c.4318G>T (p.Ala1440Ser)
c.1450G>T (p.Ala484Ser)
18g.33744335C>ACA402191039ASXL3c.4490C>A (p.Ala1497Asp)
c.4487C>A (p.Ala1496Asp)
c.4367C>A (p.Ala1456Asp)
c.4463C>A (p.Ala1488Asp)
c.4409C>A (p.Ala1470Asp)
c.4370C>A (p.Ala1457Asp)
c.4319C>A (p.Ala1440Asp)
c.1451C>A (p.Ala484Asp)
18g.33744335C>GCA402191040ASXL3c.4490C>G (p.Ala1497Gly)
c.4487C>G (p.Ala1496Gly)
c.4367C>G (p.Ala1456Gly)
c.4463C>G (p.Ala1488Gly)
c.4409C>G (p.Ala1470Gly)
c.4370C>G (p.Ala1457Gly)
c.4319C>G (p.Ala1440Gly)
c.1451C>G (p.Ala484Gly)
18g.33744335C>TCA402191041ASXL3c.4490C>T (p.Ala1497Val)
c.4487C>T (p.Ala1496Val)
c.4367C>T (p.Ala1456Val)
c.4463C>T (p.Ala1488Val)
c.4409C>T (p.Ala1470Val)
c.4370C>T (p.Ala1457Val)
c.4319C>T (p.Ala1440Val)
c.1451C>T (p.Ala484Val)
 gnomAD v4
18g.33744336C>ACA503770455ASXL3c.4491C>A (p.Ala1497=)
c.4488C>A (p.Ala1496=)
c.4368C>A (p.Ala1456=)
c.4464C>A (p.Ala1488=)
c.4410C>A (p.Ala1470=)
c.4371C>A (p.Ala1457=)
c.4320C>A (p.Ala1440=)
c.1452C>A (p.Ala484=)
18g.33744336C=CA2294858092ASXL3c.4491C= (p.Ala1497=)
c.4488C= (p.Ala1496=)
c.4368C= (p.Ala1456=)
c.4464C= (p.Ala1488=)
c.4410C= (p.Ala1470=)
c.4371C= (p.Ala1457=)
c.4320C= (p.Ala1440=)
c.1452C= (p.Ala484=)
18g.33744336C>GCA503770456ASXL3c.4491C>G (p.Ala1497=)
c.4488C>G (p.Ala1496=)
c.4368C>G (p.Ala1456=)
c.4464C>G (p.Ala1488=)
c.4410C>G (p.Ala1470=)
c.4371C>G (p.Ala1457=)
c.4320C>G (p.Ala1440=)
c.1452C>G (p.Ala484=)
18g.33744336C>TCA8934272ASXL3c.4491C>T (p.Ala1497=)
c.4488C>T (p.Ala1496=)
c.4368C>T (p.Ala1456=)
c.4464C>T (p.Ala1488=)
c.4410C>T (p.Ala1470=)
c.4371C>T (p.Ala1457=)
c.4320C>T (p.Ala1440=)
c.1452C>T (p.Ala484=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744337A>CCA402191042ASXL3c.4492A>C (p.Ser1498Arg)
c.4489A>C (p.Ser1497Arg)
c.4369A>C (p.Ser1457Arg)
c.4465A>C (p.Ser1489Arg)
c.4411A>C (p.Ser1471Arg)
c.4372A>C (p.Ser1458Arg)
c.4321A>C (p.Ser1441Arg)
c.1453A>C (p.Ser485Arg)
18g.33744337A>GCA402191043ASXL3c.4492A>G (p.Ser1498Gly)
c.4489A>G (p.Ser1497Gly)
c.4369A>G (p.Ser1457Gly)
c.4465A>G (p.Ser1489Gly)
c.4411A>G (p.Ser1471Gly)
c.4372A>G (p.Ser1458Gly)
c.4321A>G (p.Ser1441Gly)
c.1453A>G (p.Ser485Gly)
 gnomAD v4
18g.33744337A>TCA402191044ASXL3c.4492A>T (p.Ser1498Cys)
c.4489A>T (p.Ser1497Cys)
c.4369A>T (p.Ser1457Cys)
c.4465A>T (p.Ser1489Cys)
c.4411A>T (p.Ser1471Cys)
c.4372A>T (p.Ser1458Cys)
c.4321A>T (p.Ser1441Cys)
c.1453A>T (p.Ser485Cys)
18g.33744338G>ACA402191046ASXL3c.4493G>A (p.Ser1498Asn)
c.4490G>A (p.Ser1497Asn)
c.4370G>A (p.Ser1457Asn)
c.4466G>A (p.Ser1489Asn)
c.4412G>A (p.Ser1471Asn)
c.4373G>A (p.Ser1458Asn)
c.4322G>A (p.Ser1441Asn)
c.1454G>A (p.Ser485Asn)
18g.33744338G>CCA8934273ASXL3c.4493G>C (p.Ser1498Thr)
c.4490G>C (p.Ser1497Thr)
c.4370G>C (p.Ser1457Thr)
c.4466G>C (p.Ser1489Thr)
c.4412G>C (p.Ser1471Thr)
c.4373G>C (p.Ser1458Thr)
c.4322G>C (p.Ser1441Thr)
c.1454G>C (p.Ser485Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744338G=CA2294858093ASXL3c.4493G= (p.Ser1498=)
c.4490G= (p.Ser1497=)
c.4370G= (p.Ser1457=)
c.4466G= (p.Ser1489=)
c.4412G= (p.Ser1471=)
c.4373G= (p.Ser1458=)
c.4322G= (p.Ser1441=)
c.1454G= (p.Ser485=)
18g.33744338G>TCA402191045ASXL3c.4493G>T (p.Ser1498Ile)
c.4490G>T (p.Ser1497Ile)
c.4370G>T (p.Ser1457Ile)
c.4466G>T (p.Ser1489Ile)
c.4412G>T (p.Ser1471Ile)
c.4373G>T (p.Ser1458Ile)
c.4322G>T (p.Ser1441Ile)
c.1454G>T (p.Ser485Ile)
18g.33744339C>ACA402191047ASXL3c.4494C>A (p.Ser1498Arg)
c.4491C>A (p.Ser1497Arg)
c.4371C>A (p.Ser1457Arg)
c.4467C>A (p.Ser1489Arg)
c.4413C>A (p.Ser1471Arg)
c.4374C>A (p.Ser1458Arg)
c.4323C>A (p.Ser1441Arg)
c.1455C>A (p.Ser485Arg)
18g.33744339C>GCA402191048ASXL3c.4494C>G (p.Ser1498Arg)
c.4491C>G (p.Ser1497Arg)
c.4371C>G (p.Ser1457Arg)
c.4467C>G (p.Ser1489Arg)
c.4413C>G (p.Ser1471Arg)
c.4374C>G (p.Ser1458Arg)
c.4323C>G (p.Ser1441Arg)
c.1455C>G (p.Ser485Arg)
18g.33744339C>TCA503770467ASXL3c.4494C>T (p.Ser1498=)
c.4491C>T (p.Ser1497=)
c.4371C>T (p.Ser1457=)
c.4467C>T (p.Ser1489=)
c.4413C>T (p.Ser1471=)
c.4374C>T (p.Ser1458=)
c.4323C>T (p.Ser1441=)
c.1455C>T (p.Ser485=)
 gnomAD v4
18g.33744340T>ACA402191049ASXL3c.4495T>A (p.Leu1499Met)
c.4492T>A (p.Leu1498Met)
c.4372T>A (p.Leu1458Met)
c.4468T>A (p.Leu1490Met)
c.4414T>A (p.Leu1472Met)
c.4375T>A (p.Leu1459Met)
c.4324T>A (p.Leu1442Met)
c.1456T>A (p.Leu486Met)
18g.33744340T>CCA503770472ASXL3c.4495T>C (p.Leu1499=)
c.4492T>C (p.Leu1498=)
c.4372T>C (p.Leu1458=)
c.4468T>C (p.Leu1490=)
c.4414T>C (p.Leu1472=)
c.4375T>C (p.Leu1459=)
c.4324T>C (p.Leu1442=)
c.1456T>C (p.Leu486=)
18g.33744340T>GCA402191050ASXL3c.4495T>G (p.Leu1499Val)
c.4492T>G (p.Leu1498Val)
c.4372T>G (p.Leu1458Val)
c.4468T>G (p.Leu1490Val)
c.4414T>G (p.Leu1472Val)
c.4375T>G (p.Leu1459Val)
c.4324T>G (p.Leu1442Val)
c.1456T>G (p.Leu486Val)
 COSMIC
18g.33744341T>ACA402191051ASXL3c.4496T>A (p.Leu1499Ter)
c.4493T>A (p.Leu1498Ter)
c.4373T>A (p.Leu1458Ter)
c.4469T>A (p.Leu1490Ter)
c.4415T>A (p.Leu1472Ter)
c.4376T>A (p.Leu1459Ter)
c.4325T>A (p.Leu1442Ter)
c.1457T>A (p.Leu486Ter)
18g.33744341T>CCA402191052ASXL3c.4496T>C (p.Leu1499Ser)
c.4493T>C (p.Leu1498Ser)
c.4373T>C (p.Leu1458Ser)
c.4469T>C (p.Leu1490Ser)
c.4415T>C (p.Leu1472Ser)
c.4376T>C (p.Leu1459Ser)
c.4325T>C (p.Leu1442Ser)
c.1457T>C (p.Leu486Ser)
18g.33744341T>GCA402191053ASXL3c.4496T>G (p.Leu1499Trp)
c.4493T>G (p.Leu1498Trp)
c.4373T>G (p.Leu1458Trp)
c.4469T>G (p.Leu1490Trp)
c.4415T>G (p.Leu1472Trp)
c.4376T>G (p.Leu1459Trp)
c.4325T>G (p.Leu1442Trp)
c.1457T>G (p.Leu486Trp)
18g.33744342G>ACA503770483ASXL3c.4497G>A (p.Leu1499=)
c.4494G>A (p.Leu1498=)
c.4374G>A (p.Leu1458=)
c.4470G>A (p.Leu1490=)
c.4416G>A (p.Leu1472=)
c.4377G>A (p.Leu1459=)
c.4326G>A (p.Leu1442=)
c.1458G>A (p.Leu486=)
 gnomAD v4
18g.33744342G>CCA402191054ASXL3c.4497G>C (p.Leu1499Phe)
c.4494G>C (p.Leu1498Phe)
c.4374G>C (p.Leu1458Phe)
c.4470G>C (p.Leu1490Phe)
c.4416G>C (p.Leu1472Phe)
c.4377G>C (p.Leu1459Phe)
c.4326G>C (p.Leu1442Phe)
c.1458G>C (p.Leu486Phe)
18g.33744342G>TCA402191055ASXL3c.4497G>T (p.Leu1499Phe)
c.4494G>T (p.Leu1498Phe)
c.4374G>T (p.Leu1458Phe)
c.4470G>T (p.Leu1490Phe)
c.4416G>T (p.Leu1472Phe)
c.4377G>T (p.Leu1459Phe)
c.4326G>T (p.Leu1442Phe)
c.1458G>T (p.Leu486Phe)
18g.33744343G>ACA402191056ASXL3c.4498G>A (p.Asp1500Asn)
c.4495G>A (p.Asp1499Asn)
c.4375G>A (p.Asp1459Asn)
c.4471G>A (p.Asp1491Asn)
c.4417G>A (p.Asp1473Asn)
c.4378G>A (p.Asp1460Asn)
c.4327G>A (p.Asp1443Asn)
c.1459G>A (p.Asp487Asn)
 gnomAD v4
18g.33744343G>CCA402191057ASXL3c.4498G>C (p.Asp1500His)
c.4495G>C (p.Asp1499His)
c.4375G>C (p.Asp1459His)
c.4471G>C (p.Asp1491His)
c.4417G>C (p.Asp1473His)
c.4378G>C (p.Asp1460His)
c.4327G>C (p.Asp1443His)
c.1459G>C (p.Asp487His)
18g.33744343G>TCA402191058ASXL3c.4498G>T (p.Asp1500Tyr)
c.4495G>T (p.Asp1499Tyr)
c.4375G>T (p.Asp1459Tyr)
c.4471G>T (p.Asp1491Tyr)
c.4417G>T (p.Asp1473Tyr)
c.4378G>T (p.Asp1460Tyr)
c.4327G>T (p.Asp1443Tyr)
c.1459G>T (p.Asp487Tyr)
18g.33744344A=CA2294858094ASXL3c.4499A= (p.Asp1500=)
c.4496A= (p.Asp1499=)
c.4376A= (p.Asp1459=)
c.4472A= (p.Asp1491=)
c.4418A= (p.Asp1473=)
c.4379A= (p.Asp1460=)
c.4328A= (p.Asp1443=)
c.1460A= (p.Asp487=)
18g.33744344A>CCA402191060ASXL3c.4499A>C (p.Asp1500Ala)
c.4496A>C (p.Asp1499Ala)
c.4376A>C (p.Asp1459Ala)
c.4472A>C (p.Asp1491Ala)
c.4418A>C (p.Asp1473Ala)
c.4379A>C (p.Asp1460Ala)
c.4328A>C (p.Asp1443Ala)
c.1460A>C (p.Asp487Ala)
18g.33744344A>GCA402191061ASXL3c.4499A>G (p.Asp1500Gly)
c.4496A>G (p.Asp1499Gly)
c.4376A>G (p.Asp1459Gly)
c.4472A>G (p.Asp1491Gly)
c.4418A>G (p.Asp1473Gly)
c.4379A>G (p.Asp1460Gly)
c.4328A>G (p.Asp1443Gly)
c.1460A>G (p.Asp487Gly)
 dbSNP
18g.33744344A>TCA402191059ASXL3c.4499A>T (p.Asp1500Val)
c.4496A>T (p.Asp1499Val)
c.4376A>T (p.Asp1459Val)
c.4472A>T (p.Asp1491Val)
c.4418A>T (p.Asp1473Val)
c.4379A>T (p.Asp1460Val)
c.4328A>T (p.Asp1443Val)
c.1460A>T (p.Asp487Val)
18g.33744345C>ACA402191062ASXL3c.4500C>A (p.Asp1500Glu)
c.4497C>A (p.Asp1499Glu)
c.4377C>A (p.Asp1459Glu)
c.4473C>A (p.Asp1491Glu)
c.4419C>A (p.Asp1473Glu)
c.4380C>A (p.Asp1460Glu)
c.4329C>A (p.Asp1443Glu)
c.1461C>A (p.Asp487Glu)
 dbSNP gnomAD v2 gnomAD v4
18g.33744345C=CA2294858095ASXL3c.4500C= (p.Asp1500=)
c.4497C= (p.Asp1499=)
c.4377C= (p.Asp1459=)
c.4473C= (p.Asp1491=)
c.4419C= (p.Asp1473=)
c.4380C= (p.Asp1460=)
c.4329C= (p.Asp1443=)
c.1461C= (p.Asp487=)
18g.33744345C>GCA402191063ASXL3c.4500C>G (p.Asp1500Glu)
c.4497C>G (p.Asp1499Glu)
c.4377C>G (p.Asp1459Glu)
c.4473C>G (p.Asp1491Glu)
c.4419C>G (p.Asp1473Glu)
c.4380C>G (p.Asp1460Glu)
c.4329C>G (p.Asp1443Glu)
c.1461C>G (p.Asp487Glu)
18g.33744345C>TCA503770488ASXL3c.4500C>T (p.Asp1500=)
c.4497C>T (p.Asp1499=)
c.4377C>T (p.Asp1459=)
c.4473C>T (p.Asp1491=)
c.4419C>T (p.Asp1473=)
c.4380C>T (p.Asp1460=)
c.4329C>T (p.Asp1443=)
c.1461C>T (p.Asp487=)
 dbSNP
18g.33744346C>ACA402191064ASXL3c.4501C>A (p.Leu1501Met)
c.4498C>A (p.Leu1500Met)
c.4378C>A (p.Leu1460Met)
c.4474C>A (p.Leu1492Met)
c.4420C>A (p.Leu1474Met)
c.4381C>A (p.Leu1461Met)
c.4330C>A (p.Leu1444Met)
c.1462C>A (p.Leu488Met)
18g.33744346C=CA2294858096ASXL3c.4501C= (p.Leu1501=)
c.4498C= (p.Leu1500=)
c.4378C= (p.Leu1460=)
c.4474C= (p.Leu1492=)
c.4420C= (p.Leu1474=)
c.4381C= (p.Leu1461=)
c.4330C= (p.Leu1444=)
c.1462C= (p.Leu488=)
18g.33744346C>GCA402191065ASXL3c.4501C>G (p.Leu1501Val)
c.4498C>G (p.Leu1500Val)
c.4378C>G (p.Leu1460Val)
c.4474C>G (p.Leu1492Val)
c.4420C>G (p.Leu1474Val)
c.4381C>G (p.Leu1461Val)
c.4330C>G (p.Leu1444Val)
c.1462C>G (p.Leu488Val)
18g.33744346C>TCA8934274ASXL3c.4501C>T (p.Leu1501=)
c.4498C>T (p.Leu1500=)
c.4378C>T (p.Leu1460=)
c.4474C>T (p.Leu1492=)
c.4420C>T (p.Leu1474=)
c.4381C>T (p.Leu1461=)
c.4330C>T (p.Leu1444=)
c.1462C>T (p.Leu488=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744347T>ACA402191066ASXL3c.4502T>A (p.Leu1501Gln)
c.4499T>A (p.Leu1500Gln)
c.4379T>A (p.Leu1460Gln)
c.4475T>A (p.Leu1492Gln)
c.4421T>A (p.Leu1474Gln)
c.4382T>A (p.Leu1461Gln)
c.4331T>A (p.Leu1444Gln)
c.1463T>A (p.Leu488Gln)
18g.33744347T>CCA402191067ASXL3c.4502T>C (p.Leu1501Pro)
c.4499T>C (p.Leu1500Pro)
c.4379T>C (p.Leu1460Pro)
c.4475T>C (p.Leu1492Pro)
c.4421T>C (p.Leu1474Pro)
c.4382T>C (p.Leu1461Pro)
c.4331T>C (p.Leu1444Pro)
c.1463T>C (p.Leu488Pro)
18g.33744347T>GCA402191068ASXL3c.4502T>G (p.Leu1501Arg)
c.4499T>G (p.Leu1500Arg)
c.4379T>G (p.Leu1460Arg)
c.4475T>G (p.Leu1492Arg)
c.4421T>G (p.Leu1474Arg)
c.4382T>G (p.Leu1461Arg)
c.4331T>G (p.Leu1444Arg)
c.1463T>G (p.Leu488Arg)
 gnomAD v4
18g.33744348G>ACA503770496ASXL3c.4503G>A (p.Leu1501=)
c.4500G>A (p.Leu1500=)
c.4380G>A (p.Leu1460=)
c.4476G>A (p.Leu1492=)
c.4422G>A (p.Leu1474=)
c.4383G>A (p.Leu1461=)
c.4332G>A (p.Leu1444=)
c.1464G>A (p.Leu488=)
18g.33744348G>CCA503770493ASXL3c.4503G>C (p.Leu1501=)
c.4500G>C (p.Leu1500=)
c.4380G>C (p.Leu1460=)
c.4476G>C (p.Leu1492=)
c.4422G>C (p.Leu1474=)
c.4383G>C (p.Leu1461=)
c.4332G>C (p.Leu1444=)
c.1464G>C (p.Leu488=)
18g.33744348G>TCA503770494ASXL3c.4503G>T (p.Leu1501=)
c.4500G>T (p.Leu1500=)
c.4380G>T (p.Leu1460=)
c.4476G>T (p.Leu1492=)
c.4422G>T (p.Leu1474=)
c.4383G>T (p.Leu1461=)
c.4332G>T (p.Leu1444=)
c.1464G>T (p.Leu488=)
 gnomAD v4 COSMIC
18g.33744349C>ACA402191069ASXL3c.4504C>A (p.Gln1502Lys)
c.4501C>A (p.Gln1501Lys)
c.4381C>A (p.Gln1461Lys)
c.4477C>A (p.Gln1493Lys)
c.4423C>A (p.Gln1475Lys)
c.4384C>A (p.Gln1462Lys)
c.4333C>A (p.Gln1445Lys)
c.1465C>A (p.Gln489Lys)
18g.33744349C>GCA402191070ASXL3c.4504C>G (p.Gln1502Glu)
c.4501C>G (p.Gln1501Glu)
c.4381C>G (p.Gln1461Glu)
c.4477C>G (p.Gln1493Glu)
c.4423C>G (p.Gln1475Glu)
c.4384C>G (p.Gln1462Glu)
c.4333C>G (p.Gln1445Glu)
c.1465C>G (p.Gln489Glu)
18g.33744349C>TCA402191071ASXL3c.4504C>T (p.Gln1502Ter)
c.4501C>T (p.Gln1501Ter)
c.4381C>T (p.Gln1461Ter)
c.4477C>T (p.Gln1493Ter)
c.4423C>T (p.Gln1475Ter)
c.4384C>T (p.Gln1462Ter)
c.4333C>T (p.Gln1445Ter)
c.1465C>T (p.Gln489Ter)
18g.33744350A>CCA402191072ASXL3c.4505A>C (p.Gln1502Pro)
c.4502A>C (p.Gln1501Pro)
c.4382A>C (p.Gln1461Pro)
c.4478A>C (p.Gln1493Pro)
c.4424A>C (p.Gln1475Pro)
c.4385A>C (p.Gln1462Pro)
c.4334A>C (p.Gln1445Pro)
c.1466A>C (p.Gln489Pro)
18g.33744350A>GCA402191073ASXL3c.4505A>G (p.Gln1502Arg)
c.4502A>G (p.Gln1501Arg)
c.4382A>G (p.Gln1461Arg)
c.4478A>G (p.Gln1493Arg)
c.4424A>G (p.Gln1475Arg)
c.4385A>G (p.Gln1462Arg)
c.4334A>G (p.Gln1445Arg)
c.1466A>G (p.Gln489Arg)
18g.33744350A>TCA402191074ASXL3c.4505A>T (p.Gln1502Leu)
c.4502A>T (p.Gln1501Leu)
c.4382A>T (p.Gln1461Leu)
c.4478A>T (p.Gln1493Leu)
c.4424A>T (p.Gln1475Leu)
c.4385A>T (p.Gln1462Leu)
c.4334A>T (p.Gln1445Leu)
c.1466A>T (p.Gln489Leu)
18g.33744351G>ACA503770500ASXL3c.4506G>A (p.Gln1502=)
c.4503G>A (p.Gln1501=)
c.4383G>A (p.Gln1461=)
c.4479G>A (p.Gln1493=)
c.4425G>A (p.Gln1475=)
c.4386G>A (p.Gln1462=)
c.4335G>A (p.Gln1445=)
c.1467G>A (p.Gln489=)
18g.33744351G>CCA402191075ASXL3c.4506G>C (p.Gln1502His)
c.4503G>C (p.Gln1501His)
c.4383G>C (p.Gln1461His)
c.4479G>C (p.Gln1493His)
c.4425G>C (p.Gln1475His)
c.4386G>C (p.Gln1462His)
c.4335G>C (p.Gln1445His)
c.1467G>C (p.Gln489His)
18g.33744351G>TCA402191076ASXL3c.4506G>T (p.Gln1502His)
c.4503G>T (p.Gln1501His)
c.4383G>T (p.Gln1461His)
c.4479G>T (p.Gln1493His)
c.4425G>T (p.Gln1475His)
c.4386G>T (p.Gln1462His)
c.4335G>T (p.Gln1445His)
c.1467G>T (p.Gln489His)
18g.33744352G>ACA402191077ASXL3c.4507G>A (p.Gly1503Ser)
c.4504G>A (p.Gly1502Ser)
c.4384G>A (p.Gly1462Ser)
c.4480G>A (p.Gly1494Ser)
c.4426G>A (p.Gly1476Ser)
c.4387G>A (p.Gly1463Ser)
c.4336G>A (p.Gly1446Ser)
c.1468G>A (p.Gly490Ser)
18g.33744352G>CCA402191078ASXL3c.4507G>C (p.Gly1503Arg)
c.4504G>C (p.Gly1502Arg)
c.4384G>C (p.Gly1462Arg)
c.4480G>C (p.Gly1494Arg)
c.4426G>C (p.Gly1476Arg)
c.4387G>C (p.Gly1463Arg)
c.4336G>C (p.Gly1446Arg)
c.1468G>C (p.Gly490Arg)
18g.33744352G=CA2294858097ASXL3c.4507G= (p.Gly1503=)
c.4504G= (p.Gly1502=)
c.4384G= (p.Gly1462=)
c.4480G= (p.Gly1494=)
c.4426G= (p.Gly1476=)
c.4387G= (p.Gly1463=)
c.4336G= (p.Gly1446=)
c.1468G= (p.Gly490=)
18g.33744352G>TCA402191079ASXL3c.4507G>T (p.Gly1503Cys)
c.4504G>T (p.Gly1502Cys)
c.4384G>T (p.Gly1462Cys)
c.4480G>T (p.Gly1494Cys)
c.4426G>T (p.Gly1476Cys)
c.4387G>T (p.Gly1463Cys)
c.4336G>T (p.Gly1446Cys)
c.1468G>T (p.Gly490Cys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
18g.33744353G>ACA297793641ASXL3c.4508G>A (p.Gly1503Asp)
c.4505G>A (p.Gly1502Asp)
c.4385G>A (p.Gly1462Asp)
c.4481G>A (p.Gly1494Asp)
c.4427G>A (p.Gly1476Asp)
c.4388G>A (p.Gly1463Asp)
c.4337G>A (p.Gly1446Asp)
c.1469G>A (p.Gly490Asp)
 dbSNP
18g.33744353G>CCA402191080ASXL3c.4508G>C (p.Gly1503Ala)
c.4505G>C (p.Gly1502Ala)
c.4385G>C (p.Gly1462Ala)
c.4481G>C (p.Gly1494Ala)
c.4427G>C (p.Gly1476Ala)
c.4388G>C (p.Gly1463Ala)
c.4337G>C (p.Gly1446Ala)
c.1469G>C (p.Gly490Ala)
18g.33744353G=CA2294858098ASXL3c.4508G= (p.Gly1503=)
c.4505G= (p.Gly1502=)
c.4385G= (p.Gly1462=)
c.4481G= (p.Gly1494=)
c.4427G= (p.Gly1476=)
c.4388G= (p.Gly1463=)
c.4337G= (p.Gly1446=)
c.1469G= (p.Gly490=)
18g.33744353G>TCA402191081ASXL3c.4508G>T (p.Gly1503Val)
c.4505G>T (p.Gly1502Val)
c.4385G>T (p.Gly1462Val)
c.4481G>T (p.Gly1494Val)
c.4427G>T (p.Gly1476Val)
c.4388G>T (p.Gly1463Val)
c.4337G>T (p.Gly1446Val)
c.1469G>T (p.Gly490Val)
18g.33744354C>ACA503770506ASXL3c.4509C>A (p.Gly1503=)
c.4506C>A (p.Gly1502=)
c.4386C>A (p.Gly1462=)
c.4482C>A (p.Gly1494=)
c.4428C>A (p.Gly1476=)
c.4389C>A (p.Gly1463=)
c.4338C>A (p.Gly1446=)
c.1470C>A (p.Gly490=)
 gnomAD v4
18g.33744354C=CA2294858099ASXL3c.4509C= (p.Gly1503=)
c.4506C= (p.Gly1502=)
c.4386C= (p.Gly1462=)
c.4482C= (p.Gly1494=)
c.4428C= (p.Gly1476=)
c.4389C= (p.Gly1463=)
c.4338C= (p.Gly1446=)
c.1470C= (p.Gly490=)
18g.33744354C>GCA503770507ASXL3c.4509C>G (p.Gly1503=)
c.4506C>G (p.Gly1502=)
c.4386C>G (p.Gly1462=)
c.4482C>G (p.Gly1494=)
c.4428C>G (p.Gly1476=)
c.4389C>G (p.Gly1463=)
c.4338C>G (p.Gly1446=)
c.1470C>G (p.Gly490=)
18g.33744354C>TCA503770509ASXL3c.4509C>T (p.Gly1503=)
c.4506C>T (p.Gly1502=)
c.4386C>T (p.Gly1462=)
c.4482C>T (p.Gly1494=)
c.4428C>T (p.Gly1476=)
c.4389C>T (p.Gly1463=)
c.4338C>T (p.Gly1446=)
c.1470C>T (p.Gly490=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33744357_33744361dupCA658799035ASXL3c.4512_4516dup (p.Val1506AspfsTer3)
c.4509_4513dup (p.Val1505AspfsTer3)
c.4389_4393dup (p.Val1465AspfsTer3)
c.4485_4489dup (p.Val1497AspfsTer3)
c.4431_4435dup (p.Val1479AspfsTer3)
c.4392_4396dup (p.Val1466AspfsTer3)
c.4341_4345dup (p.Val1449AspfsTer3)
c.1473_1477dup (p.Val493AspfsTer3)
 ClinVar dbSNP
18g.33744355A>CCA503770511ASXL3c.4510A>C (p.Arg1504=)
c.4507A>C (p.Arg1503=)
c.4387A>C (p.Arg1463=)
c.4483A>C (p.Arg1495=)
c.4429A>C (p.Arg1477=)
c.4390A>C (p.Arg1464=)
c.4339A>C (p.Arg1447=)
c.1471A>C (p.Arg491=)
18g.33744355A>GCA402191082ASXL3c.4510A>G (p.Arg1504Gly)
c.4507A>G (p.Arg1503Gly)
c.4387A>G (p.Arg1463Gly)
c.4483A>G (p.Arg1495Gly)
c.4429A>G (p.Arg1477Gly)
c.4390A>G (p.Arg1464Gly)
c.4339A>G (p.Arg1447Gly)
c.1471A>G (p.Arg491Gly)
18g.33744355A>TCA402191083ASXL3c.4510A>T (p.Arg1504Ter)
c.4507A>T (p.Arg1503Ter)
c.4387A>T (p.Arg1463Ter)
c.4483A>T (p.Arg1495Ter)
c.4429A>T (p.Arg1477Ter)
c.4390A>T (p.Arg1464Ter)
c.4339A>T (p.Arg1447Ter)
c.1471A>T (p.Arg491Ter)
18g.33744356G>ACA402191084ASXL3c.4511G>A (p.Arg1504Lys)
c.4508G>A (p.Arg1503Lys)
c.4388G>A (p.Arg1463Lys)
c.4484G>A (p.Arg1495Lys)
c.4430G>A (p.Arg1477Lys)
c.4391G>A (p.Arg1464Lys)
c.4340G>A (p.Arg1447Lys)
c.1472G>A (p.Arg491Lys)
18g.33744356G>CCA402191085ASXL3c.4511G>C (p.Arg1504Thr)
c.4508G>C (p.Arg1503Thr)
c.4388G>C (p.Arg1463Thr)
c.4484G>C (p.Arg1495Thr)
c.4430G>C (p.Arg1477Thr)
c.4391G>C (p.Arg1464Thr)
c.4340G>C (p.Arg1447Thr)
c.1472G>C (p.Arg491Thr)
 dbSNP gnomAD v3 gnomAD v4
18g.33744356G>TCA402191086ASXL3c.4511G>T (p.Arg1504Ile)
c.4508G>T (p.Arg1503Ile)
c.4388G>T (p.Arg1463Ile)
c.4484G>T (p.Arg1495Ile)
c.4430G>T (p.Arg1477Ile)
c.4391G>T (p.Arg1464Ile)
c.4340G>T (p.Arg1447Ile)
c.1472G>T (p.Arg491Ile)
18g.33744357A>CCA402191087ASXL3c.4512A>C (p.Arg1504Ser)
c.4509A>C (p.Arg1503Ser)
c.4389A>C (p.Arg1463Ser)
c.4485A>C (p.Arg1495Ser)
c.4431A>C (p.Arg1477Ser)
c.4392A>C (p.Arg1464Ser)
c.4341A>C (p.Arg1447Ser)
c.1473A>C (p.Arg491Ser)
18g.33744357A>GCA503770514ASXL3c.4512A>G (p.Arg1504=)
c.4509A>G (p.Arg1503=)
c.4389A>G (p.Arg1463=)
c.4485A>G (p.Arg1495=)
c.4431A>G (p.Arg1477=)
c.4392A>G (p.Arg1464=)
c.4341A>G (p.Arg1447=)
c.1473A>G (p.Arg491=)
18g.33744357A>TCA402191088ASXL3c.4512A>T (p.Arg1504Ser)
c.4509A>T (p.Arg1503Ser)
c.4389A>T (p.Arg1463Ser)
c.4485A>T (p.Arg1495Ser)
c.4431A>T (p.Arg1477Ser)
c.4392A>T (p.Arg1464Ser)
c.4341A>T (p.Arg1447Ser)
c.1473A>T (p.Arg491Ser)
18g.33744358C>ACA402191090ASXL3c.4513C>A (p.Pro1505Thr)
c.4510C>A (p.Pro1504Thr)
c.4390C>A (p.Pro1464Thr)
c.4486C>A (p.Pro1496Thr)
c.4432C>A (p.Pro1478Thr)
c.4393C>A (p.Pro1465Thr)
c.4342C>A (p.Pro1448Thr)
c.1474C>A (p.Pro492Thr)
18g.33744358C=CA2294858100ASXL3c.4513C= (p.Pro1505=)
c.4510C= (p.Pro1504=)
c.4390C= (p.Pro1464=)
c.4486C= (p.Pro1496=)
c.4432C= (p.Pro1478=)
c.4393C= (p.Pro1465=)
c.4342C= (p.Pro1448=)
c.1474C= (p.Pro492=)
18g.33744358C>GCA402191091ASXL3c.4513C>G (p.Pro1505Ala)
c.4510C>G (p.Pro1504Ala)
c.4390C>G (p.Pro1464Ala)
c.4486C>G (p.Pro1496Ala)
c.4432C>G (p.Pro1478Ala)
c.4393C>G (p.Pro1465Ala)
c.4342C>G (p.Pro1448Ala)
c.1474C>G (p.Pro492Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33744358C>TCA402191089ASXL3c.4513C>T (p.Pro1505Ser)
c.4510C>T (p.Pro1504Ser)
c.4390C>T (p.Pro1464Ser)
c.4486C>T (p.Pro1496Ser)
c.4432C>T (p.Pro1478Ser)
c.4393C>T (p.Pro1465Ser)
c.4342C>T (p.Pro1448Ser)
c.1474C>T (p.Pro492Ser)
 dbSNP gnomAD v2 gnomAD v4
18g.33744359C>ACA402191092ASXL3c.4514C>A (p.Pro1505Gln)
c.4511C>A (p.Pro1504Gln)
c.4391C>A (p.Pro1464Gln)
c.4487C>A (p.Pro1496Gln)
c.4433C>A (p.Pro1478Gln)
c.4394C>A (p.Pro1465Gln)
c.4343C>A (p.Pro1448Gln)
c.1475C>A (p.Pro492Gln)
 dbSNP
18g.33744359C=CA2294858101ASXL3c.4514C= (p.Pro1505=)
c.4511C= (p.Pro1504=)
c.4391C= (p.Pro1464=)
c.4487C= (p.Pro1496=)
c.4433C= (p.Pro1478=)
c.4394C= (p.Pro1465=)
c.4343C= (p.Pro1448=)
c.1475C= (p.Pro492=)
18g.33744359C>GCA402191094ASXL3c.4514C>G (p.Pro1505Arg)
c.4511C>G (p.Pro1504Arg)
c.4391C>G (p.Pro1464Arg)
c.4487C>G (p.Pro1496Arg)
c.4433C>G (p.Pro1478Arg)
c.4394C>G (p.Pro1465Arg)
c.4343C>G (p.Pro1448Arg)
c.1475C>G (p.Pro492Arg)
18g.33744359C>TCA402191093ASXL3c.4514C>T (p.Pro1505Leu)
c.4511C>T (p.Pro1504Leu)
c.4391C>T (p.Pro1464Leu)
c.4487C>T (p.Pro1496Leu)
c.4433C>T (p.Pro1478Leu)
c.4394C>T (p.Pro1465Leu)
c.4343C>T (p.Pro1448Leu)
c.1475C>T (p.Pro492Leu)
 dbSNP gnomAD v3 gnomAD v4
18g.33744360A>CCA503770520ASXL3c.4515A>C (p.Pro1505=)
c.4512A>C (p.Pro1504=)
c.4392A>C (p.Pro1464=)
c.4488A>C (p.Pro1496=)
c.4434A>C (p.Pro1478=)
c.4395A>C (p.Pro1465=)
c.4344A>C (p.Pro1448=)
c.1476A>C (p.Pro492=)
 gnomAD v4
18g.33744360A>GCA503770521ASXL3c.4515A>G (p.Pro1505=)
c.4512A>G (p.Pro1504=)
c.4392A>G (p.Pro1464=)
c.4488A>G (p.Pro1496=)
c.4434A>G (p.Pro1478=)
c.4395A>G (p.Pro1465=)
c.4344A>G (p.Pro1448=)
c.1476A>G (p.Pro492=)
 gnomAD v4
18g.33744360A>TCA503770522ASXL3c.4515A>T (p.Pro1505=)
c.4512A>T (p.Pro1504=)
c.4392A>T (p.Pro1464=)
c.4488A>T (p.Pro1496=)
c.4434A>T (p.Pro1478=)
c.4395A>T (p.Pro1465=)
c.4344A>T (p.Pro1448=)
c.1476A>T (p.Pro492=)
18g.33744361G>ACA8934275ASXL3c.4516G>A (p.Val1506Met)
c.4513G>A (p.Val1505Met)
c.4393G>A (p.Val1465Met)
c.4489G>A (p.Val1497Met)
c.4435G>A (p.Val1479Met)
c.4396G>A (p.Val1466Met)
c.4345G>A (p.Val1449Met)
c.1477G>A (p.Val493Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744361G>CCA402191096ASXL3c.4516G>C (p.Val1506Leu)
c.4513G>C (p.Val1505Leu)
c.4393G>C (p.Val1465Leu)
c.4489G>C (p.Val1497Leu)
c.4435G>C (p.Val1479Leu)
c.4396G>C (p.Val1466Leu)
c.4345G>C (p.Val1449Leu)
c.1477G>C (p.Val493Leu)
18g.33744361G=CA2294858102ASXL3c.4516G= (p.Val1506=)
c.4513G= (p.Val1505=)
c.4393G= (p.Val1465=)
c.4489G= (p.Val1497=)
c.4435G= (p.Val1479=)
c.4396G= (p.Val1466=)
c.4345G= (p.Val1449=)
c.1477G= (p.Val493=)
18g.33744361G>TCA402191095ASXL3c.4516G>T (p.Val1506Leu)
c.4513G>T (p.Val1505Leu)
c.4393G>T (p.Val1465Leu)
c.4489G>T (p.Val1497Leu)
c.4435G>T (p.Val1479Leu)
c.4396G>T (p.Val1466Leu)
c.4345G>T (p.Val1449Leu)
c.1477G>T (p.Val493Leu)
18g.33744362T>ACA402191097ASXL3c.4517T>A (p.Val1506Glu)
c.4514T>A (p.Val1505Glu)
c.4394T>A (p.Val1465Glu)
c.4490T>A (p.Val1497Glu)
c.4436T>A (p.Val1479Glu)
c.4397T>A (p.Val1466Glu)
c.4346T>A (p.Val1449Glu)
c.1478T>A (p.Val493Glu)
18g.33744362T>CCA402191099ASXL3c.4517T>C (p.Val1506Ala)
c.4514T>C (p.Val1505Ala)
c.4394T>C (p.Val1465Ala)
c.4490T>C (p.Val1497Ala)
c.4436T>C (p.Val1479Ala)
c.4397T>C (p.Val1466Ala)
c.4346T>C (p.Val1449Ala)
c.1478T>C (p.Val493Ala)
 gnomAD v4
18g.33744362T>GCA402191098ASXL3c.4517T>G (p.Val1506Gly)
c.4514T>G (p.Val1505Gly)
c.4394T>G (p.Val1465Gly)
c.4490T>G (p.Val1497Gly)
c.4436T>G (p.Val1479Gly)
c.4397T>G (p.Val1466Gly)
c.4346T>G (p.Val1449Gly)
c.1478T>G (p.Val493Gly)
18g.33744363G>ACA503770532ASXL3c.4518G>A (p.Val1506=)
c.4515G>A (p.Val1505=)
c.4395G>A (p.Val1465=)
c.4491G>A (p.Val1497=)
c.4437G>A (p.Val1479=)
c.4398G>A (p.Val1466=)
c.4347G>A (p.Val1449=)
c.1479G>A (p.Val493=)
18g.33744363G>CCA503770533ASXL3c.4518G>C (p.Val1506=)
c.4515G>C (p.Val1505=)
c.4395G>C (p.Val1465=)
c.4491G>C (p.Val1497=)
c.4437G>C (p.Val1479=)
c.4398G>C (p.Val1466=)
c.4347G>C (p.Val1449=)
c.1479G>C (p.Val493=)
18g.33744363G>TCA503770535ASXL3c.4518G>T (p.Val1506=)
c.4515G>T (p.Val1505=)
c.4395G>T (p.Val1465=)
c.4491G>T (p.Val1497=)
c.4437G>T (p.Val1479=)
c.4398G>T (p.Val1466=)
c.4347G>T (p.Val1449=)
c.1479G>T (p.Val493=)
18g.33744364A>CCA503770538ASXL3c.4519A>C (p.Arg1507=)
c.4516A>C (p.Arg1506=)
c.4396A>C (p.Arg1466=)
c.4492A>C (p.Arg1498=)
c.4438A>C (p.Arg1480=)
c.4399A>C (p.Arg1467=)
c.4348A>C (p.Arg1450=)
c.1480A>C (p.Arg494=)
18g.33744364A>GCA402191100ASXL3c.4519A>G (p.Arg1507Gly)
c.4516A>G (p.Arg1506Gly)
c.4396A>G (p.Arg1466Gly)
c.4492A>G (p.Arg1498Gly)
c.4438A>G (p.Arg1480Gly)
c.4399A>G (p.Arg1467Gly)
c.4348A>G (p.Arg1450Gly)
c.1480A>G (p.Arg494Gly)
18g.33744364A>TCA402191101ASXL3c.4519A>T (p.Arg1507Trp)
c.4516A>T (p.Arg1506Trp)
c.4396A>T (p.Arg1466Trp)
c.4492A>T (p.Arg1498Trp)
c.4438A>T (p.Arg1480Trp)
c.4399A>T (p.Arg1467Trp)
c.4348A>T (p.Arg1450Trp)
c.1480A>T (p.Arg494Trp)
18g.33744365G>ACA402191102ASXL3c.4520G>A (p.Arg1507Lys)
c.4517G>A (p.Arg1506Lys)
c.4397G>A (p.Arg1466Lys)
c.4493G>A (p.Arg1498Lys)
c.4439G>A (p.Arg1480Lys)
c.4400G>A (p.Arg1467Lys)
c.4349G>A (p.Arg1450Lys)
c.1481G>A (p.Arg494Lys)
 COSMIC
18g.33744365G>CCA402191103ASXL3c.4520G>C (p.Arg1507Thr)
c.4517G>C (p.Arg1506Thr)
c.4397G>C (p.Arg1466Thr)
c.4493G>C (p.Arg1498Thr)
c.4439G>C (p.Arg1480Thr)
c.4400G>C (p.Arg1467Thr)
c.4349G>C (p.Arg1450Thr)
c.1481G>C (p.Arg494Thr)
18g.33744365G>TCA402191104ASXL3c.4520G>T (p.Arg1507Met)
c.4517G>T (p.Arg1506Met)
c.4397G>T (p.Arg1466Met)
c.4493G>T (p.Arg1498Met)
c.4439G>T (p.Arg1480Met)
c.4400G>T (p.Arg1467Met)
c.4349G>T (p.Arg1450Met)
c.1481G>T (p.Arg494Met)
18g.33744366G>ACA503770546ASXL3c.4521G>A (p.Arg1507=)
c.4518G>A (p.Arg1506=)
c.4398G>A (p.Arg1466=)
c.4494G>A (p.Arg1498=)
c.4440G>A (p.Arg1480=)
c.4401G>A (p.Arg1467=)
c.4350G>A (p.Arg1450=)
c.1482G>A (p.Arg494=)
18g.33744366G>CCA402191105ASXL3c.4521G>C (p.Arg1507Ser)
c.4518G>C (p.Arg1506Ser)
c.4398G>C (p.Arg1466Ser)
c.4494G>C (p.Arg1498Ser)
c.4440G>C (p.Arg1480Ser)
c.4401G>C (p.Arg1467Ser)
c.4350G>C (p.Arg1450Ser)
c.1482G>C (p.Arg494Ser)
 gnomAD v4
18g.33744366G>TCA402191106ASXL3c.4521G>T (p.Arg1507Ser)
c.4518G>T (p.Arg1506Ser)
c.4398G>T (p.Arg1466Ser)
c.4494G>T (p.Arg1498Ser)
c.4440G>T (p.Arg1480Ser)
c.4401G>T (p.Arg1467Ser)
c.4350G>T (p.Arg1450Ser)
c.1482G>T (p.Arg494Ser)
 gnomAD v4
18g.33744367A>CCA402191107ASXL3c.4522A>C (p.Thr1508Pro)
c.4519A>C (p.Thr1507Pro)
c.4399A>C (p.Thr1467Pro)
c.4495A>C (p.Thr1499Pro)
c.4441A>C (p.Thr1481Pro)
c.4402A>C (p.Thr1468Pro)
c.4351A>C (p.Thr1451Pro)
c.1483A>C (p.Thr495Pro)
18g.33744367A>GCA402191108ASXL3c.4522A>G (p.Thr1508Ala)
c.4519A>G (p.Thr1507Ala)
c.4399A>G (p.Thr1467Ala)
c.4495A>G (p.Thr1499Ala)
c.4441A>G (p.Thr1481Ala)
c.4402A>G (p.Thr1468Ala)
c.4351A>G (p.Thr1451Ala)
c.1483A>G (p.Thr495Ala)
18g.33744367A>TCA402191109ASXL3c.4522A>T (p.Thr1508Ser)
c.4519A>T (p.Thr1507Ser)
c.4399A>T (p.Thr1467Ser)
c.4495A>T (p.Thr1499Ser)
c.4441A>T (p.Thr1481Ser)
c.4402A>T (p.Thr1468Ser)
c.4351A>T (p.Thr1451Ser)
c.1483A>T (p.Thr495Ser)
 gnomAD v4
18g.33744368C>ACA402191112ASXL3c.4523C>A (p.Thr1508Lys)
c.4520C>A (p.Thr1507Lys)
c.4400C>A (p.Thr1467Lys)
c.4496C>A (p.Thr1499Lys)
c.4442C>A (p.Thr1481Lys)
c.4403C>A (p.Thr1468Lys)
c.4352C>A (p.Thr1451Lys)
c.1484C>A (p.Thr495Lys)
18g.33744368C>GCA402191111ASXL3c.4523C>G (p.Thr1508Arg)
c.4520C>G (p.Thr1507Arg)
c.4400C>G (p.Thr1467Arg)
c.4496C>G (p.Thr1499Arg)
c.4442C>G (p.Thr1481Arg)
c.4403C>G (p.Thr1468Arg)
c.4352C>G (p.Thr1451Arg)
c.1484C>G (p.Thr495Arg)
18g.33744368C>TCA402191110ASXL3c.4523C>T (p.Thr1508Ile)
c.4520C>T (p.Thr1507Ile)
c.4400C>T (p.Thr1467Ile)
c.4496C>T (p.Thr1499Ile)
c.4442C>T (p.Thr1481Ile)
c.4403C>T (p.Thr1468Ile)
c.4352C>T (p.Thr1451Ile)
c.1484C>T (p.Thr495Ile)
18g.33744369A=CA2294858103ASXL3c.4524A= (p.Thr1508=)
c.4521A= (p.Thr1507=)
c.4401A= (p.Thr1467=)
c.4497A= (p.Thr1499=)
c.4443A= (p.Thr1481=)
c.4404A= (p.Thr1468=)
c.4353A= (p.Thr1451=)
c.1485A= (p.Thr495=)
18g.33744369A>CCA503770553ASXL3c.4524A>C (p.Thr1508=)
c.4521A>C (p.Thr1507=)
c.4401A>C (p.Thr1467=)
c.4497A>C (p.Thr1499=)
c.4443A>C (p.Thr1481=)
c.4404A>C (p.Thr1468=)
c.4353A>C (p.Thr1451=)
c.1485A>C (p.Thr495=)
18g.33744369A>GCA503770556ASXL3c.4524A>G (p.Thr1508=)
c.4521A>G (p.Thr1507=)
c.4401A>G (p.Thr1467=)
c.4497A>G (p.Thr1499=)
c.4443A>G (p.Thr1481=)
c.4404A>G (p.Thr1468=)
c.4353A>G (p.Thr1451=)
c.1485A>G (p.Thr495=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33744369A>TCA503770555ASXL3c.4524A>T (p.Thr1508=)
c.4521A>T (p.Thr1507=)
c.4401A>T (p.Thr1467=)
c.4497A>T (p.Thr1499=)
c.4443A>T (p.Thr1481=)
c.4404A>T (p.Thr1468=)
c.4353A>T (p.Thr1451=)
c.1485A>T (p.Thr495=)
18g.33744370G>ACA402191113ASXL3c.4525G>A (p.Glu1509Lys)
c.4522G>A (p.Glu1508Lys)
c.4402G>A (p.Glu1468Lys)
c.4498G>A (p.Glu1500Lys)
c.4444G>A (p.Glu1482Lys)
c.4405G>A (p.Glu1469Lys)
c.4354G>A (p.Glu1452Lys)
c.1486G>A (p.Glu496Lys)
18g.33744370G>CCA402191114ASXL3c.4525G>C (p.Glu1509Gln)
c.4522G>C (p.Glu1508Gln)
c.4402G>C (p.Glu1468Gln)
c.4498G>C (p.Glu1500Gln)
c.4444G>C (p.Glu1482Gln)
c.4405G>C (p.Glu1469Gln)
c.4354G>C (p.Glu1452Gln)
c.1486G>C (p.Glu496Gln)
18g.33744370G>TCA402191115ASXL3c.4525G>T (p.Glu1509Ter)
c.4522G>T (p.Glu1508Ter)
c.4402G>T (p.Glu1468Ter)
c.4498G>T (p.Glu1500Ter)
c.4444G>T (p.Glu1482Ter)
c.4405G>T (p.Glu1469Ter)
c.4354G>T (p.Glu1452Ter)
c.1486G>T (p.Glu496Ter)
18g.33744371A>CCA402191116ASXL3c.4526A>C (p.Glu1509Ala)
c.4523A>C (p.Glu1508Ala)
c.4403A>C (p.Glu1468Ala)
c.4499A>C (p.Glu1500Ala)
c.4445A>C (p.Glu1482Ala)
c.4406A>C (p.Glu1469Ala)
c.4355A>C (p.Glu1452Ala)
c.1487A>C (p.Glu496Ala)
18g.33744371A>GCA402191117ASXL3c.4526A>G (p.Glu1509Gly)
c.4523A>G (p.Glu1508Gly)
c.4403A>G (p.Glu1468Gly)
c.4499A>G (p.Glu1500Gly)
c.4445A>G (p.Glu1482Gly)
c.4406A>G (p.Glu1469Gly)
c.4355A>G (p.Glu1452Gly)
c.1487A>G (p.Glu496Gly)
18g.33744371A>TCA402191118ASXL3c.4526A>T (p.Glu1509Val)
c.4523A>T (p.Glu1508Val)
c.4403A>T (p.Glu1468Val)
c.4499A>T (p.Glu1500Val)
c.4445A>T (p.Glu1482Val)
c.4406A>T (p.Glu1469Val)
c.4355A>T (p.Glu1452Val)
c.1487A>T (p.Glu496Val)
18g.33744372G>ACA503770559ASXL3c.4527G>A (p.Glu1509=)
c.4524G>A (p.Glu1508=)
c.4404G>A (p.Glu1468=)
c.4500G>A (p.Glu1500=)
c.4446G>A (p.Glu1482=)
c.4407G>A (p.Glu1469=)
c.4356G>A (p.Glu1452=)
c.1488G>A (p.Glu496=)
 gnomAD v4
18g.33744372G>CCA402191119ASXL3c.4527G>C (p.Glu1509Asp)
c.4524G>C (p.Glu1508Asp)
c.4404G>C (p.Glu1468Asp)
c.4500G>C (p.Glu1500Asp)
c.4446G>C (p.Glu1482Asp)
c.4407G>C (p.Glu1469Asp)
c.4356G>C (p.Glu1452Asp)
c.1488G>C (p.Glu496Asp)
18g.33744372G>TCA402191120ASXL3c.4527G>T (p.Glu1509Asp)
c.4524G>T (p.Glu1508Asp)
c.4404G>T (p.Glu1468Asp)
c.4500G>T (p.Glu1500Asp)
c.4446G>T (p.Glu1482Asp)
c.4407G>T (p.Glu1469Asp)
c.4356G>T (p.Glu1452Asp)
c.1488G>T (p.Glu496Asp)
18g.33744373G>ACA402191121ASXL3c.4528G>A (p.Ala1510Thr)
c.4525G>A (p.Ala1509Thr)
c.4405G>A (p.Ala1469Thr)
c.4501G>A (p.Ala1501Thr)
c.4447G>A (p.Ala1483Thr)
c.4408G>A (p.Ala1470Thr)
c.4357G>A (p.Ala1453Thr)
c.1489G>A (p.Ala497Thr)
18g.33744373G>CCA8934276ASXL3c.4528G>C (p.Ala1510Pro)
c.4525G>C (p.Ala1509Pro)
c.4405G>C (p.Ala1469Pro)
c.4501G>C (p.Ala1501Pro)
c.4447G>C (p.Ala1483Pro)
c.4408G>C (p.Ala1470Pro)
c.4357G>C (p.Ala1453Pro)
c.1489G>C (p.Ala497Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744373G=CA2294858104ASXL3c.4528G= (p.Ala1510=)
c.4525G= (p.Ala1509=)
c.4405G= (p.Ala1469=)
c.4501G= (p.Ala1501=)
c.4447G= (p.Ala1483=)
c.4408G= (p.Ala1470=)
c.4357G= (p.Ala1453=)
c.1489G= (p.Ala497=)
18g.33744373G>TCA402191122ASXL3c.4528G>T (p.Ala1510Ser)
c.4525G>T (p.Ala1509Ser)
c.4405G>T (p.Ala1469Ser)
c.4501G>T (p.Ala1501Ser)
c.4447G>T (p.Ala1483Ser)
c.4408G>T (p.Ala1470Ser)
c.4357G>T (p.Ala1453Ser)
c.1489G>T (p.Ala497Ser)
 dbSNP gnomAD v4
18g.33744374C>ACA402191124ASXL3c.4529C>A (p.Ala1510Glu)
c.4526C>A (p.Ala1509Glu)
c.4406C>A (p.Ala1469Glu)
c.4502C>A (p.Ala1501Glu)
c.4448C>A (p.Ala1483Glu)
c.4409C>A (p.Ala1470Glu)
c.4358C>A (p.Ala1453Glu)
c.1490C>A (p.Ala497Glu)
18g.33744374C>GCA402191125ASXL3c.4529C>G (p.Ala1510Gly)
c.4526C>G (p.Ala1509Gly)
c.4406C>G (p.Ala1469Gly)
c.4502C>G (p.Ala1501Gly)
c.4448C>G (p.Ala1483Gly)
c.4409C>G (p.Ala1470Gly)
c.4358C>G (p.Ala1453Gly)
c.1490C>G (p.Ala497Gly)
18g.33744374C>TCA402191123ASXL3c.4529C>T (p.Ala1510Val)
c.4526C>T (p.Ala1509Val)
c.4406C>T (p.Ala1469Val)
c.4502C>T (p.Ala1501Val)
c.4448C>T (p.Ala1483Val)
c.4409C>T (p.Ala1470Val)
c.4358C>T (p.Ala1453Val)
c.1490C>T (p.Ala497Val)
18g.33744375A>CCA503770568ASXL3c.4530A>C (p.Ala1510=)
c.4527A>C (p.Ala1509=)
c.4407A>C (p.Ala1469=)
c.4503A>C (p.Ala1501=)
c.4449A>C (p.Ala1483=)
c.4410A>C (p.Ala1470=)
c.4359A>C (p.Ala1453=)
c.1491A>C (p.Ala497=)
18g.33744375A>GCA503770569ASXL3c.4530A>G (p.Ala1510=)
c.4527A>G (p.Ala1509=)
c.4407A>G (p.Ala1469=)
c.4503A>G (p.Ala1501=)
c.4449A>G (p.Ala1483=)
c.4410A>G (p.Ala1470=)
c.4359A>G (p.Ala1453=)
c.1491A>G (p.Ala497=)
 gnomAD v4
18g.33744375A>TCA503770570ASXL3c.4530A>T (p.Ala1510=)
c.4527A>T (p.Ala1509=)
c.4407A>T (p.Ala1469=)
c.4503A>T (p.Ala1501=)
c.4449A>T (p.Ala1483=)
c.4410A>T (p.Ala1470=)
c.4359A>T (p.Ala1453=)
c.1491A>T (p.Ala497=)
18g.33744376T>ACA402191126ASXL3c.4531T>A (p.Ser1511Thr)
c.4528T>A (p.Ser1510Thr)
c.4408T>A (p.Ser1470Thr)
c.4504T>A (p.Ser1502Thr)
c.4450T>A (p.Ser1484Thr)
c.4411T>A (p.Ser1471Thr)
c.4360T>A (p.Ser1454Thr)
c.1492T>A (p.Ser498Thr)
18g.33744376T>CCA402191127ASXL3c.4531T>C (p.Ser1511Pro)
c.4528T>C (p.Ser1510Pro)
c.4408T>C (p.Ser1470Pro)
c.4504T>C (p.Ser1502Pro)
c.4450T>C (p.Ser1484Pro)
c.4411T>C (p.Ser1471Pro)
c.4360T>C (p.Ser1454Pro)
c.1492T>C (p.Ser498Pro)
 dbSNP gnomAD v3 gnomAD v4
18g.33744376T>GCA402191128ASXL3c.4531T>G (p.Ser1511Ala)
c.4528T>G (p.Ser1510Ala)
c.4408T>G (p.Ser1470Ala)
c.4504T>G (p.Ser1502Ala)
c.4450T>G (p.Ser1484Ala)
c.4411T>G (p.Ser1471Ala)
c.4360T>G (p.Ser1454Ala)
c.1492T>G (p.Ser498Ala)
18g.33744376T=CA2294858105ASXL3c.4531T= (p.Ser1511=)
c.4528T= (p.Ser1510=)
c.4408T= (p.Ser1470=)
c.4504T= (p.Ser1502=)
c.4450T= (p.Ser1484=)
c.4411T= (p.Ser1471=)
c.4360T= (p.Ser1454=)
c.1492T= (p.Ser498=)
18g.33744377C>ACA402191129ASXL3c.4532C>A (p.Ser1511Tyr)
c.4529C>A (p.Ser1510Tyr)
c.4409C>A (p.Ser1470Tyr)
c.4505C>A (p.Ser1502Tyr)
c.4451C>A (p.Ser1484Tyr)
c.4412C>A (p.Ser1471Tyr)
c.4361C>A (p.Ser1454Tyr)
c.1493C>A (p.Ser498Tyr)
18g.33744377C=CA2294858106ASXL3c.4532C= (p.Ser1511=)
c.4529C= (p.Ser1510=)
c.4409C= (p.Ser1470=)
c.4505C= (p.Ser1502=)
c.4451C= (p.Ser1484=)
c.4412C= (p.Ser1471=)
c.4361C= (p.Ser1454=)
c.1493C= (p.Ser498=)
18g.33744377C>GCA402191130ASXL3c.4532C>G (p.Ser1511Cys)
c.4529C>G (p.Ser1510Cys)
c.4409C>G (p.Ser1470Cys)
c.4505C>G (p.Ser1502Cys)
c.4451C>G (p.Ser1484Cys)
c.4412C>G (p.Ser1471Cys)
c.4361C>G (p.Ser1454Cys)
c.1493C>G (p.Ser498Cys)
18g.33744377C>TCA8934277ASXL3c.4532C>T (p.Ser1511Phe)
c.4529C>T (p.Ser1510Phe)
c.4409C>T (p.Ser1470Phe)
c.4505C>T (p.Ser1502Phe)
c.4451C>T (p.Ser1484Phe)
c.4412C>T (p.Ser1471Phe)
c.4361C>T (p.Ser1454Phe)
c.1493C>T (p.Ser498Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744378C>ACA503770576ASXL3c.4533C>A (p.Ser1511=)
c.4530C>A (p.Ser1510=)
c.4410C>A (p.Ser1470=)
c.4506C>A (p.Ser1502=)
c.4452C>A (p.Ser1484=)
c.4413C>A (p.Ser1471=)
c.4362C>A (p.Ser1454=)
c.1494C>A (p.Ser498=)
 dbSNP gnomAD v2
18g.33744378C=CA2294858107ASXL3c.4533C= (p.Ser1511=)
c.4530C= (p.Ser1510=)
c.4410C= (p.Ser1470=)
c.4506C= (p.Ser1502=)
c.4452C= (p.Ser1484=)
c.4413C= (p.Ser1471=)
c.4362C= (p.Ser1454=)
c.1494C= (p.Ser498=)
18g.33744378C>GCA503770581ASXL3c.4533C>G (p.Ser1511=)
c.4530C>G (p.Ser1510=)
c.4410C>G (p.Ser1470=)
c.4506C>G (p.Ser1502=)
c.4452C>G (p.Ser1484=)
c.4413C>G (p.Ser1471=)
c.4362C>G (p.Ser1454=)
c.1494C>G (p.Ser498=)
18g.33744378C>TCA8934278ASXL3c.4533C>T (p.Ser1511=)
c.4530C>T (p.Ser1510=)
c.4410C>T (p.Ser1470=)
c.4506C>T (p.Ser1502=)
c.4452C>T (p.Ser1484=)
c.4413C>T (p.Ser1471=)
c.4362C>T (p.Ser1454=)
c.1494C>T (p.Ser498=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744379G>ACA8934279ASXL3c.4534G>A (p.Val1512Ile)
c.4531G>A (p.Val1511Ile)
c.4411G>A (p.Val1471Ile)
c.4507G>A (p.Val1503Ile)
c.4453G>A (p.Val1485Ile)
c.4414G>A (p.Val1472Ile)
c.4363G>A (p.Val1455Ile)
c.1495G>A (p.Val499Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.33744379G>CCA8934280ASXL3c.4534G>C (p.Val1512Leu)
c.4531G>C (p.Val1511Leu)
c.4411G>C (p.Val1471Leu)
c.4507G>C (p.Val1503Leu)
c.4453G>C (p.Val1485Leu)
c.4414G>C (p.Val1472Leu)
c.4363G>C (p.Val1455Leu)
c.1495G>C (p.Val499Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744379G=CA2294858108ASXL3c.4534G= (p.Val1512=)
c.4531G= (p.Val1511=)
c.4411G= (p.Val1471=)
c.4507G= (p.Val1503=)
c.4453G= (p.Val1485=)
c.4414G= (p.Val1472=)
c.4363G= (p.Val1455=)
c.1495G= (p.Val499=)
18g.33744379G>TCA402191131ASXL3c.4534G>T (p.Val1512Leu)
c.4531G>T (p.Val1511Leu)
c.4411G>T (p.Val1471Leu)
c.4507G>T (p.Val1503Leu)
c.4453G>T (p.Val1485Leu)
c.4414G>T (p.Val1472Leu)
c.4363G>T (p.Val1455Leu)
c.1495G>T (p.Val499Leu)
18g.33744380T>ACA402191132ASXL3c.4535T>A (p.Val1512Glu)
c.4532T>A (p.Val1511Glu)
c.4412T>A (p.Val1471Glu)
c.4508T>A (p.Val1503Glu)
c.4454T>A (p.Val1485Glu)
c.4415T>A (p.Val1472Glu)
c.4364T>A (p.Val1455Glu)
c.1496T>A (p.Val499Glu)
18g.33744380T>CCA402191133ASXL3c.4535T>C (p.Val1512Ala)
c.4532T>C (p.Val1511Ala)
c.4412T>C (p.Val1471Ala)
c.4508T>C (p.Val1503Ala)
c.4454T>C (p.Val1485Ala)
c.4415T>C (p.Val1472Ala)
c.4364T>C (p.Val1455Ala)
c.1496T>C (p.Val499Ala)
18g.33744380T>GCA402191134ASXL3c.4535T>G (p.Val1512Gly)
c.4532T>G (p.Val1511Gly)
c.4412T>G (p.Val1471Gly)
c.4508T>G (p.Val1503Gly)
c.4454T>G (p.Val1485Gly)
c.4415T>G (p.Val1472Gly)
c.4364T>G (p.Val1455Gly)
c.1496T>G (p.Val499Gly)
18g.33744381A>CCA503770589ASXL3c.4536A>C (p.Val1512=)
c.4533A>C (p.Val1511=)
c.4413A>C (p.Val1471=)
c.4509A>C (p.Val1503=)
c.4455A>C (p.Val1485=)
c.4416A>C (p.Val1472=)
c.4365A>C (p.Val1455=)
c.1497A>C (p.Val499=)
18g.33744381A>GCA503770594ASXL3c.4536A>G (p.Val1512=)
c.4533A>G (p.Val1511=)
c.4413A>G (p.Val1471=)
c.4509A>G (p.Val1503=)
c.4455A>G (p.Val1485=)
c.4416A>G (p.Val1472=)
c.4365A>G (p.Val1455=)
c.1497A>G (p.Val499=)
18g.33744381A>TCA503770591ASXL3c.4536A>T (p.Val1512=)
c.4533A>T (p.Val1511=)
c.4413A>T (p.Val1471=)
c.4509A>T (p.Val1503=)
c.4455A>T (p.Val1485=)
c.4416A>T (p.Val1472=)
c.4365A>T (p.Val1455=)
c.1497A>T (p.Val499=)
18g.33744382C>ACA402191135ASXL3c.4537C>A (p.Gln1513Lys)
c.4534C>A (p.Gln1512Lys)
c.4414C>A (p.Gln1472Lys)
c.4510C>A (p.Gln1504Lys)
c.4456C>A (p.Gln1486Lys)
c.4417C>A (p.Gln1473Lys)
c.4366C>A (p.Gln1456Lys)
c.1498C>A (p.Gln500Lys)
18g.33744382C>GCA402191137ASXL3c.4537C>G (p.Gln1513Glu)
c.4534C>G (p.Gln1512Glu)
c.4414C>G (p.Gln1472Glu)
c.4510C>G (p.Gln1504Glu)
c.4456C>G (p.Gln1486Glu)
c.4417C>G (p.Gln1473Glu)
c.4366C>G (p.Gln1456Glu)
c.1498C>G (p.Gln500Glu)
18g.33744382C>TCA402191136ASXL3c.4537C>T (p.Gln1513Ter)
c.4534C>T (p.Gln1512Ter)
c.4414C>T (p.Gln1472Ter)
c.4510C>T (p.Gln1504Ter)
c.4456C>T (p.Gln1486Ter)
c.4417C>T (p.Gln1473Ter)
c.4366C>T (p.Gln1456Ter)
c.1498C>T (p.Gln500Ter)
 ClinVar
18g.33744383A>CCA402191138ASXL3c.4538A>C (p.Gln1513Pro)
c.4535A>C (p.Gln1512Pro)
c.4415A>C (p.Gln1472Pro)
c.4511A>C (p.Gln1504Pro)
c.4457A>C (p.Gln1486Pro)
c.4418A>C (p.Gln1473Pro)
c.4367A>C (p.Gln1456Pro)
c.1499A>C (p.Gln500Pro)
18g.33744383A>GCA402191139ASXL3c.4538A>G (p.Gln1513Arg)
c.4535A>G (p.Gln1512Arg)
c.4415A>G (p.Gln1472Arg)
c.4511A>G (p.Gln1504Arg)
c.4457A>G (p.Gln1486Arg)
c.4418A>G (p.Gln1473Arg)
c.4367A>G (p.Gln1456Arg)
c.1499A>G (p.Gln500Arg)
18g.33744383A>TCA402191140ASXL3c.4538A>T (p.Gln1513Leu)
c.4535A>T (p.Gln1512Leu)
c.4415A>T (p.Gln1472Leu)
c.4511A>T (p.Gln1504Leu)
c.4457A>T (p.Gln1486Leu)
c.4418A>T (p.Gln1473Leu)
c.4367A>T (p.Gln1456Leu)
c.1499A>T (p.Gln500Leu)
18g.33744384G>ACA8934281ASXL3c.4539G>A (p.Gln1513=)
c.4536G>A (p.Gln1512=)
c.4416G>A (p.Gln1472=)
c.4512G>A (p.Gln1504=)
c.4458G>A (p.Gln1486=)
c.4419G>A (p.Gln1473=)
c.4368G>A (p.Gln1456=)
c.1500G>A (p.Gln500=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.33744384G>CCA402191141ASXL3c.4539G>C (p.Gln1513His)
c.4536G>C (p.Gln1512His)
c.4416G>C (p.Gln1472His)
c.4512G>C (p.Gln1504His)
c.4458G>C (p.Gln1486His)
c.4419G>C (p.Gln1473His)
c.4368G>C (p.Gln1456His)
c.1500G>C (p.Gln500His)
18g.33744384G=CA2294858109ASXL3c.4539G= (p.Gln1513=)
c.4536G= (p.Gln1512=)
c.4416G= (p.Gln1472=)
c.4512G= (p.Gln1504=)
c.4458G= (p.Gln1486=)
c.4419G= (p.Gln1473=)
c.4368G= (p.Gln1456=)
c.1500G= (p.Gln500=)
18g.33744384G>TCA402191142ASXL3c.4539G>T (p.Gln1513His)
c.4536G>T (p.Gln1512His)
c.4416G>T (p.Gln1472His)
c.4512G>T (p.Gln1504His)
c.4458G>T (p.Gln1486His)
c.4419G>T (p.Gln1473His)
c.4368G>T (p.Gln1456His)
c.1500G>T (p.Gln500His)
 gnomAD v4
18g.33744385C>ACA402191143ASXL3c.4540C>A (p.Pro1514Thr)
c.4537C>A (p.Pro1513Thr)
c.4417C>A (p.Pro1473Thr)
c.4513C>A (p.Pro1505Thr)
c.4459C>A (p.Pro1487Thr)
c.4420C>A (p.Pro1474Thr)
c.4369C>A (p.Pro1457Thr)
c.1501C>A (p.Pro501Thr)
18g.33744385C>GCA402191144ASXL3c.4540C>G (p.Pro1514Ala)
c.4537C>G (p.Pro1513Ala)
c.4417C>G (p.Pro1473Ala)
c.4513C>G (p.Pro1505Ala)
c.4459C>G (p.Pro1487Ala)
c.4420C>G (p.Pro1474Ala)
c.4369C>G (p.Pro1457Ala)
c.1501C>G (p.Pro501Ala)
18g.33744385C>TCA402191145ASXL3c.4540C>T (p.Pro1514Ser)
c.4537C>T (p.Pro1513Ser)
c.4417C>T (p.Pro1473Ser)
c.4513C>T (p.Pro1505Ser)
c.4459C>T (p.Pro1487Ser)
c.4420C>T (p.Pro1474Ser)
c.4369C>T (p.Pro1457Ser)
c.1501C>T (p.Pro501Ser)
18g.33744386C>ACA297793659ASXL3c.4541C>A (p.Pro1514His)
c.4538C>A (p.Pro1513His)
c.4418C>A (p.Pro1473His)
c.4514C>A (p.Pro1505His)
c.4460C>A (p.Pro1487His)
c.4421C>A (p.Pro1474His)
c.4370C>A (p.Pro1457His)
c.1502C>A (p.Pro501His)
 dbSNP gnomAD v2 gnomAD v4
18g.33744386C=CA2294858110ASXL3c.4541C= (p.Pro1514=)
c.4538C= (p.Pro1513=)
c.4418C= (p.Pro1473=)
c.4514C= (p.Pro1505=)
c.4460C= (p.Pro1487=)
c.4421C= (p.Pro1474=)
c.4370C= (p.Pro1457=)
c.1502C= (p.Pro501=)
18g.33744386C>GCA8934282ASXL3c.4541C>G (p.Pro1514Arg)
c.4538C>G (p.Pro1513Arg)
c.4418C>G (p.Pro1473Arg)
c.4514C>G (p.Pro1505Arg)
c.4460C>G (p.Pro1487Arg)
c.4421C>G (p.Pro1474Arg)
c.4370C>G (p.Pro1457Arg)
c.1502C>G (p.Pro501Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744386C>TCA402191146ASXL3c.4541C>T (p.Pro1514Leu)
c.4538C>T (p.Pro1513Leu)
c.4418C>T (p.Pro1473Leu)
c.4514C>T (p.Pro1505Leu)
c.4460C>T (p.Pro1487Leu)
c.4421C>T (p.Pro1474Leu)
c.4370C>T (p.Pro1457Leu)
c.1502C>T (p.Pro501Leu)
 gnomAD v4
18g.33744387C>ACA503770605ASXL3c.4542C>A (p.Pro1514=)
c.4539C>A (p.Pro1513=)
c.4419C>A (p.Pro1473=)
c.4515C>A (p.Pro1505=)
c.4461C>A (p.Pro1487=)
c.4422C>A (p.Pro1474=)
c.4371C>A (p.Pro1457=)
c.1503C>A (p.Pro501=)
 gnomAD v4
18g.33744387C=CA2294858111ASXL3c.4542C= (p.Pro1514=)
c.4539C= (p.Pro1513=)
c.4419C= (p.Pro1473=)
c.4515C= (p.Pro1505=)
c.4461C= (p.Pro1487=)
c.4422C= (p.Pro1474=)
c.4371C= (p.Pro1457=)
c.1503C= (p.Pro501=)
18g.33744387C>GCA503770607ASXL3c.4542C>G (p.Pro1514=)
c.4539C>G (p.Pro1513=)
c.4419C>G (p.Pro1473=)
c.4515C>G (p.Pro1505=)
c.4461C>G (p.Pro1487=)
c.4422C>G (p.Pro1474=)
c.4371C>G (p.Pro1457=)
c.1503C>G (p.Pro501=)
 dbSNP
18g.33744387C>TCA8934283ASXL3c.4542C>T (p.Pro1514=)
c.4539C>T (p.Pro1513=)
c.4419C>T (p.Pro1473=)
c.4515C>T (p.Pro1505=)
c.4461C>T (p.Pro1487=)
c.4422C>T (p.Pro1474=)
c.4371C>T (p.Pro1457=)
c.1503C>T (p.Pro501=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744388G>ACA8934284ASXL3c.4543G>A (p.Val1515Met)
c.4540G>A (p.Val1514Met)
c.4420G>A (p.Val1474Met)
c.4516G>A (p.Val1506Met)
c.4462G>A (p.Val1488Met)
c.4423G>A (p.Val1475Met)
c.4372G>A (p.Val1458Met)
c.1504G>A (p.Val502Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.33744388G>CCA402191147ASXL3c.4543G>C (p.Val1515Leu)
c.4540G>C (p.Val1514Leu)
c.4420G>C (p.Val1474Leu)
c.4516G>C (p.Val1506Leu)
c.4462G>C (p.Val1488Leu)
c.4423G>C (p.Val1475Leu)
c.4372G>C (p.Val1458Leu)
c.1504G>C (p.Val502Leu)
18g.33744388G=CA2294858112ASXL3c.4543G= (p.Val1515=)
c.4540G= (p.Val1514=)
c.4420G= (p.Val1474=)
c.4516G= (p.Val1506=)
c.4462G= (p.Val1488=)
c.4423G= (p.Val1475=)
c.4372G= (p.Val1458=)
c.1504G= (p.Val502=)
18g.33744388G>TCA402191148ASXL3c.4543G>T (p.Val1515Leu)
c.4540G>T (p.Val1514Leu)
c.4420G>T (p.Val1474Leu)
c.4516G>T (p.Val1506Leu)
c.4462G>T (p.Val1488Leu)
c.4423G>T (p.Val1475Leu)
c.4372G>T (p.Val1458Leu)
c.1504G>T (p.Val502Leu)
18g.33744389T>ACA402191149ASXL3c.4544T>A (p.Val1515Glu)
c.4541T>A (p.Val1514Glu)
c.4421T>A (p.Val1474Glu)
c.4517T>A (p.Val1506Glu)
c.4463T>A (p.Val1488Glu)
c.4424T>A (p.Val1475Glu)
c.4373T>A (p.Val1458Glu)
c.1505T>A (p.Val502Glu)
18g.33744389T>CCA402191150ASXL3c.4544T>C (p.Val1515Ala)
c.4541T>C (p.Val1514Ala)
c.4421T>C (p.Val1474Ala)
c.4517T>C (p.Val1506Ala)
c.4463T>C (p.Val1488Ala)
c.4424T>C (p.Val1475Ala)
c.4373T>C (p.Val1458Ala)
c.1505T>C (p.Val502Ala)
18g.33744389T>GCA402191151ASXL3c.4544T>G (p.Val1515Gly)
c.4541T>G (p.Val1514Gly)
c.4421T>G (p.Val1474Gly)
c.4517T>G (p.Val1506Gly)
c.4463T>G (p.Val1488Gly)
c.4424T>G (p.Val1475Gly)
c.4373T>G (p.Val1458Gly)
c.1505T>G (p.Val502Gly)
18g.33744390G>ACA503770617ASXL3c.4545G>A (p.Val1515=)
c.4542G>A (p.Val1514=)
c.4422G>A (p.Val1474=)
c.4518G>A (p.Val1506=)
c.4464G>A (p.Val1488=)
c.4425G>A (p.Val1475=)
c.4374G>A (p.Val1458=)
c.1506G>A (p.Val502=)
 gnomAD v4
18g.33744390G>CCA503770616ASXL3c.4545G>C (p.Val1515=)
c.4542G>C (p.Val1514=)
c.4422G>C (p.Val1474=)
c.4518G>C (p.Val1506=)
c.4464G>C (p.Val1488=)
c.4425G>C (p.Val1475=)
c.4374G>C (p.Val1458=)
c.1506G>C (p.Val502=)
18g.33744390G=CA2294858113ASXL3c.4545G= (p.Val1515=)
c.4542G= (p.Val1514=)
c.4422G= (p.Val1474=)
c.4518G= (p.Val1506=)
c.4464G= (p.Val1488=)
c.4425G= (p.Val1475=)
c.4374G= (p.Val1458=)
c.1506G= (p.Val502=)
18g.33744390G>TCA8934285ASXL3c.4545G>T (p.Val1515=)
c.4542G>T (p.Val1514=)
c.4422G>T (p.Val1474=)
c.4518G>T (p.Val1506=)
c.4464G>T (p.Val1488=)
c.4425G>T (p.Val1475=)
c.4374G>T (p.Val1458=)
c.1506G>T (p.Val502=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744391G>ACA402191152ASXL3c.4546G>A (p.Ala1516Thr)
c.4543G>A (p.Ala1515Thr)
c.4423G>A (p.Ala1475Thr)
c.4519G>A (p.Ala1507Thr)
c.4465G>A (p.Ala1489Thr)
c.4426G>A (p.Ala1476Thr)
c.4375G>A (p.Ala1459Thr)
c.1507G>A (p.Ala503Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33744391G>CCA402191153ASXL3c.4546G>C (p.Ala1516Pro)
c.4543G>C (p.Ala1515Pro)
c.4423G>C (p.Ala1475Pro)
c.4519G>C (p.Ala1507Pro)
c.4465G>C (p.Ala1489Pro)
c.4426G>C (p.Ala1476Pro)
c.4375G>C (p.Ala1459Pro)
c.1507G>C (p.Ala503Pro)
18g.33744391G=CA2294858114ASXL3c.4546G= (p.Ala1516=)
c.4543G= (p.Ala1515=)
c.4423G= (p.Ala1475=)
c.4519G= (p.Ala1507=)
c.4465G= (p.Ala1489=)
c.4426G= (p.Ala1476=)
c.4375G= (p.Ala1459=)
c.1507G= (p.Ala503=)
18g.33744391G>TCA402191154ASXL3c.4546G>T (p.Ala1516Ser)
c.4543G>T (p.Ala1515Ser)
c.4423G>T (p.Ala1475Ser)
c.4519G>T (p.Ala1507Ser)
c.4465G>T (p.Ala1489Ser)
c.4426G>T (p.Ala1476Ser)
c.4375G>T (p.Ala1459Ser)
c.1507G>T (p.Ala503Ser)
18g.33744392C>ACA402191155ASXL3c.4547C>A (p.Ala1516Glu)
c.4544C>A (p.Ala1515Glu)
c.4424C>A (p.Ala1475Glu)
c.4520C>A (p.Ala1507Glu)
c.4466C>A (p.Ala1489Glu)
c.4427C>A (p.Ala1476Glu)
c.4376C>A (p.Ala1459Glu)
c.1508C>A (p.Ala503Glu)
18g.33744392C=CA2294858115ASXL3c.4547C= (p.Ala1516=)
c.4544C= (p.Ala1515=)
c.4424C= (p.Ala1475=)
c.4520C= (p.Ala1507=)
c.4466C= (p.Ala1489=)
c.4427C= (p.Ala1476=)
c.4376C= (p.Ala1459=)
c.1508C= (p.Ala503=)
18g.33744392C>GCA402191156ASXL3c.4547C>G (p.Ala1516Gly)
c.4544C>G (p.Ala1515Gly)
c.4424C>G (p.Ala1475Gly)
c.4520C>G (p.Ala1507Gly)
c.4466C>G (p.Ala1489Gly)
c.4427C>G (p.Ala1476Gly)
c.4376C>G (p.Ala1459Gly)
c.1508C>G (p.Ala503Gly)
18g.33744392C>TCA8934286ASXL3c.4547C>T (p.Ala1516Val)
c.4544C>T (p.Ala1515Val)
c.4424C>T (p.Ala1475Val)
c.4520C>T (p.Ala1507Val)
c.4466C>T (p.Ala1489Val)
c.4427C>T (p.Ala1476Val)
c.4376C>T (p.Ala1459Val)
c.1508C>T (p.Ala503Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744393G>ACA8934287ASXL3c.4548G>A (p.Ala1516=)
c.4545G>A (p.Ala1515=)
c.4425G>A (p.Ala1475=)
c.4521G>A (p.Ala1507=)
c.4467G>A (p.Ala1489=)
c.4428G>A (p.Ala1476=)
c.4377G>A (p.Ala1459=)
c.1509G>A (p.Ala503=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744393G>CCA503770620ASXL3c.4548G>C (p.Ala1516=)
c.4545G>C (p.Ala1515=)
c.4425G>C (p.Ala1475=)
c.4521G>C (p.Ala1507=)
c.4467G>C (p.Ala1489=)
c.4428G>C (p.Ala1476=)
c.4377G>C (p.Ala1459=)
c.1509G>C (p.Ala503=)
18g.33744393G=CA2294858116ASXL3c.4548G= (p.Ala1516=)
c.4545G= (p.Ala1515=)
c.4425G= (p.Ala1475=)
c.4521G= (p.Ala1507=)
c.4467G= (p.Ala1489=)
c.4428G= (p.Ala1476=)
c.4377G= (p.Ala1459=)
c.1509G= (p.Ala503=)
18g.33744393G>TCA503770621ASXL3c.4548G>T (p.Ala1516=)
c.4545G>T (p.Ala1515=)
c.4425G>T (p.Ala1475=)
c.4521G>T (p.Ala1507=)
c.4467G>T (p.Ala1489=)
c.4428G>T (p.Ala1476=)
c.4377G>T (p.Ala1459=)
c.1509G>T (p.Ala503=)
18g.33744394T>ACA402191159ASXL3c.4549T>A (p.Cys1517Ser)
c.4546T>A (p.Cys1516Ser)
c.4426T>A (p.Cys1476Ser)
c.4522T>A (p.Cys1508Ser)
c.4468T>A (p.Cys1490Ser)
c.4429T>A (p.Cys1477Ser)
c.4378T>A (p.Cys1460Ser)
c.1510T>A (p.Cys504Ser)
 dbSNP gnomAD v3 gnomAD v4
18g.33744394T>CCA402191157ASXL3c.4549T>C (p.Cys1517Arg)
c.4546T>C (p.Cys1516Arg)
c.4426T>C (p.Cys1476Arg)
c.4522T>C (p.Cys1508Arg)
c.4468T>C (p.Cys1490Arg)
c.4429T>C (p.Cys1477Arg)
c.4378T>C (p.Cys1460Arg)
c.1510T>C (p.Cys504Arg)
18g.33744394T>GCA402191158ASXL3c.4549T>G (p.Cys1517Gly)
c.4546T>G (p.Cys1516Gly)
c.4426T>G (p.Cys1476Gly)
c.4522T>G (p.Cys1508Gly)
c.4468T>G (p.Cys1490Gly)
c.4429T>G (p.Cys1477Gly)
c.4378T>G (p.Cys1460Gly)
c.1510T>G (p.Cys504Gly)
18g.33744394T=CA2294858117ASXL3c.4549T= (p.Cys1517=)
c.4546T= (p.Cys1516=)
c.4426T= (p.Cys1476=)
c.4522T= (p.Cys1508=)
c.4468T= (p.Cys1490=)
c.4429T= (p.Cys1477=)
c.4378T= (p.Cys1460=)
c.1510T= (p.Cys504=)
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

Number of alleles fetched