Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
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=)

Number of alleles fetched