Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.33744349C>A | CA402191069 | ASXL3 | c.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) | |
18 | g.33744349C>G | CA402191070 | ASXL3 | c.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) | |
18 | g.33744349C>T | CA402191071 | ASXL3 | c.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) | |
18 | g.33744350A>C | CA402191072 | ASXL3 | c.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) | |
18 | g.33744350A>G | CA402191073 | ASXL3 | c.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) | |
18 | g.33744350A>T | CA402191074 | ASXL3 | c.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) | |
18 | g.33744351G>A | CA503770500 | ASXL3 | c.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=) | |
18 | g.33744351G>C | CA402191075 | ASXL3 | c.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) | |
18 | g.33744351G>T | CA402191076 | ASXL3 | c.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) | |
18 | g.33744352G>A | CA402191077 | ASXL3 | c.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) | |
18 | g.33744352G>C | CA402191078 | ASXL3 | c.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) | |
18 | g.33744352G= | CA2294858097 | ASXL3 | c.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=) | |
18 | g.33744352G>T | CA402191079 | ASXL3 | c.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 |
18 | g.33744353G>A | CA297793641 | ASXL3 | c.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 |
18 | g.33744353G>C | CA402191080 | ASXL3 | c.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) | |
18 | g.33744353G= | CA2294858098 | ASXL3 | c.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=) | |
18 | g.33744353G>T | CA402191081 | ASXL3 | c.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) | |
18 | g.33744354C>A | CA503770506 | ASXL3 | c.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 |
18 | g.33744354C= | CA2294858099 | ASXL3 | c.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=) | |
18 | g.33744354C>G | CA503770507 | ASXL3 | c.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=) | |
18 | g.33744354C>T | CA503770509 | ASXL3 | c.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 |
18 | g.33744357_33744361dup | CA658799035 | ASXL3 | c.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 |
18 | g.33744355A>C | CA503770511 | ASXL3 | c.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=) | |
18 | g.33744355A>G | CA402191082 | ASXL3 | c.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) | |
18 | g.33744355A>T | CA402191083 | ASXL3 | c.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) | |
18 | g.33744356G>A | CA402191084 | ASXL3 | c.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) | |
18 | g.33744356G>C | CA402191085 | ASXL3 | c.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 |
18 | g.33744356G>T | CA402191086 | ASXL3 | c.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) | |
18 | g.33744357A>C | CA402191087 | ASXL3 | c.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) | |
18 | g.33744357A>G | CA503770514 | ASXL3 | c.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=) | |
18 | g.33744357A>T | CA402191088 | ASXL3 | c.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) | |
18 | g.33744358C>A | CA402191090 | ASXL3 | c.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) | |
18 | g.33744358C= | CA2294858100 | ASXL3 | c.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=) | |
18 | g.33744358C>G | CA402191091 | ASXL3 | c.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 |
18 | g.33744358C>T | CA402191089 | ASXL3 | c.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 |
18 | g.33744359C>A | CA402191092 | ASXL3 | c.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 |
18 | g.33744359C= | CA2294858101 | ASXL3 | c.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=) | |
18 | g.33744359C>G | CA402191094 | ASXL3 | c.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) | |
18 | g.33744359C>T | CA402191093 | ASXL3 | c.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 |
18 | g.33744360A>C | CA503770520 | ASXL3 | c.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 |
18 | g.33744360A>G | CA503770521 | ASXL3 | c.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 |
18 | g.33744360A>T | CA503770522 | ASXL3 | c.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=) | |
18 | g.33744361G>A | CA8934275 | ASXL3 | c.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 |
18 | g.33744361G>C | CA402191096 | ASXL3 | c.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) | |
18 | g.33744361G= | CA2294858102 | ASXL3 | c.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=) | |
18 | g.33744361G>T | CA402191095 | ASXL3 | c.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) | |
18 | g.33744362T>A | CA402191097 | ASXL3 | c.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) | |
18 | g.33744362T>C | CA402191099 | ASXL3 | c.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 |
18 | g.33744362T>G | CA402191098 | ASXL3 | c.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) | |
18 | g.33744363G>A | CA503770532 | ASXL3 | c.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=) | |
18 | g.33744363G>C | CA503770533 | ASXL3 | c.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=) | |
18 | g.33744363G>T | CA503770535 | ASXL3 | c.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=) | |
18 | g.33744364A>C | CA503770538 | ASXL3 | c.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=) | |
18 | g.33744364A>G | CA402191100 | ASXL3 | c.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) | |
18 | g.33744364A>T | CA402191101 | ASXL3 | c.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) | |
18 | g.33744365G>A | CA402191102 | ASXL3 | c.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 |
18 | g.33744365G>C | CA402191103 | ASXL3 | c.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) | |
18 | g.33744365G>T | CA402191104 | ASXL3 | c.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) | |
18 | g.33744366G>A | CA503770546 | ASXL3 | c.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=) | |
18 | g.33744366G>C | CA402191105 | ASXL3 | c.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 |
18 | g.33744366G>T | CA402191106 | ASXL3 | c.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 |
18 | g.33744367A>C | CA402191107 | ASXL3 | c.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) | |
18 | g.33744367A>G | CA402191108 | ASXL3 | c.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) | |
18 | g.33744367A>T | CA402191109 | ASXL3 | c.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 |
18 | g.33744368C>A | CA402191112 | ASXL3 | c.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) | |
18 | g.33744368C>G | CA402191111 | ASXL3 | c.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) | |
18 | g.33744368C>T | CA402191110 | ASXL3 | c.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) | |
18 | g.33744369A= | CA2294858103 | ASXL3 | c.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=) | |
18 | g.33744369A>C | CA503770553 | ASXL3 | c.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=) | |
18 | g.33744369A>G | CA503770556 | ASXL3 | c.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 |
18 | g.33744369A>T | CA503770555 | ASXL3 | c.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=) | |
18 | g.33744370G>A | CA402191113 | ASXL3 | c.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) | |
18 | g.33744370G>C | CA402191114 | ASXL3 | c.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) | |
18 | g.33744370G>T | CA402191115 | ASXL3 | c.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) | |
18 | g.33744371A>C | CA402191116 | ASXL3 | c.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) | |
18 | g.33744371A>G | CA402191117 | ASXL3 | c.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) | |
18 | g.33744371A>T | CA402191118 | ASXL3 | c.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) | |
18 | g.33744372G>A | CA503770559 | ASXL3 | c.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 |
18 | g.33744372G>C | CA402191119 | ASXL3 | c.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) | |
18 | g.33744372G>T | CA402191120 | ASXL3 | c.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) | |
18 | g.33744373G>A | CA402191121 | ASXL3 | c.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) | |
18 | g.33744373G>C | CA8934276 | ASXL3 | c.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 |
18 | g.33744373G= | CA2294858104 | ASXL3 | c.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=) | |
18 | g.33744373G>T | CA402191122 | ASXL3 | c.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 |
18 | g.33744374C>A | CA402191124 | ASXL3 | c.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) | |
18 | g.33744374C>G | CA402191125 | ASXL3 | c.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) | |
18 | g.33744374C>T | CA402191123 | ASXL3 | c.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) | |
18 | g.33744375A>C | CA503770568 | ASXL3 | c.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=) | |
18 | g.33744375A>G | CA503770569 | ASXL3 | c.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 |
18 | g.33744375A>T | CA503770570 | ASXL3 | c.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=) | |
18 | g.33744376T>A | CA402191126 | ASXL3 | c.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) | |
18 | g.33744376T>C | CA402191127 | ASXL3 | c.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 |
18 | g.33744376T>G | CA402191128 | ASXL3 | c.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) | |
18 | g.33744376T= | CA2294858105 | ASXL3 | c.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=) | |
18 | g.33744377C>A | CA402191129 | ASXL3 | c.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) | |
18 | g.33744377C= | CA2294858106 | ASXL3 | c.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=) | |
18 | g.33744377C>G | CA402191130 | ASXL3 | c.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) | |
18 | g.33744377C>T | CA8934277 | ASXL3 | c.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 |
18 | g.33744378C>A | CA503770576 | ASXL3 | c.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 |
18 | g.33744378C= | CA2294858107 | ASXL3 | c.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=) | |
18 | g.33744378C>G | CA503770581 | ASXL3 | c.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=) | |
18 | g.33744378C>T | CA8934278 | ASXL3 | c.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 |
18 | g.33744379G>A | CA8934279 | ASXL3 | c.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 |
18 | g.33744379G>C | CA8934280 | ASXL3 | c.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 |
18 | g.33744379G= | CA2294858108 | ASXL3 | c.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=) | |
18 | g.33744379G>T | CA402191131 | ASXL3 | c.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) | |
18 | g.33744380T>A | CA402191132 | ASXL3 | c.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) | |
18 | g.33744380T>C | CA402191133 | ASXL3 | c.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) | |
18 | g.33744380T>G | CA402191134 | ASXL3 | c.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) | |
18 | g.33744381A>C | CA503770589 | ASXL3 | c.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=) | |
18 | g.33744381A>G | CA503770594 | ASXL3 | c.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=) | |
18 | g.33744381A>T | CA503770591 | ASXL3 | c.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=) | |
18 | g.33744382C>A | CA402191135 | ASXL3 | c.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) | |
18 | g.33744382C>G | CA402191137 | ASXL3 | c.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) | |
18 | g.33744382C>T | CA402191136 | ASXL3 | c.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 |
18 | g.33744383A>C | CA402191138 | ASXL3 | c.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) | |
18 | g.33744383A>G | CA402191139 | ASXL3 | c.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) | |
18 | g.33744383A>T | CA402191140 | ASXL3 | c.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) | |
18 | g.33744384G>A | CA8934281 | ASXL3 | c.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 |
18 | g.33744384G>C | CA402191141 | ASXL3 | c.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) | |
18 | g.33744384G= | CA2294858109 | ASXL3 | c.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=) | |
18 | g.33744384G>T | CA402191142 | ASXL3 | c.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 |
18 | g.33744385C>A | CA402191143 | ASXL3 | c.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) | |
18 | g.33744385C>G | CA402191144 | ASXL3 | c.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) | |
18 | g.33744385C>T | CA402191145 | ASXL3 | c.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) | |
18 | g.33744386C>A | CA297793659 | ASXL3 | c.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 |
18 | g.33744386C= | CA2294858110 | ASXL3 | c.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=) | |
18 | g.33744386C>G | CA8934282 | ASXL3 | c.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 |
18 | g.33744386C>T | CA402191146 | ASXL3 | c.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 |
18 | g.33744387C>A | CA503770605 | ASXL3 | c.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 |
18 | g.33744387C= | CA2294858111 | ASXL3 | c.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=) | |
18 | g.33744387C>G | CA503770607 | ASXL3 | c.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 |
18 | g.33744387C>T | CA8934283 | ASXL3 | c.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 |
18 | g.33744388G>A | CA8934284 | ASXL3 | c.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 |
18 | g.33744388G>C | CA402191147 | ASXL3 | c.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) | |
18 | g.33744388G= | CA2294858112 | ASXL3 | c.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=) | |
18 | g.33744388G>T | CA402191148 | ASXL3 | c.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) | |
18 | g.33744389T>A | CA402191149 | ASXL3 | c.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) | |
18 | g.33744389T>C | CA402191150 | ASXL3 | c.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) | |
18 | g.33744389T>G | CA402191151 | ASXL3 | c.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) | |
18 | g.33744390G>A | CA503770617 | ASXL3 | c.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 |
18 | g.33744390G>C | CA503770616 | ASXL3 | c.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=) | |
18 | g.33744390G= | CA2294858113 | ASXL3 | c.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=) | |
18 | g.33744390G>T | CA8934285 | ASXL3 | c.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 |
18 | g.33744391G>A | CA402191152 | ASXL3 | c.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 |
18 | g.33744391G>C | CA402191153 | ASXL3 | c.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) | |
18 | g.33744391G= | CA2294858114 | ASXL3 | c.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=) | |
18 | g.33744391G>T | CA402191154 | ASXL3 | c.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) | |
18 | g.33744392C>A | CA402191155 | ASXL3 | c.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) | |
18 | g.33744392C= | CA2294858115 | ASXL3 | c.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=) | |
18 | g.33744392C>G | CA402191156 | ASXL3 | c.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) | |
18 | g.33744392C>T | CA8934286 | ASXL3 | c.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 |
18 | g.33744393G>A | CA8934287 | ASXL3 | c.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 |
18 | g.33744393G>C | CA503770620 | ASXL3 | c.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=) | |
18 | g.33744393G= | CA2294858116 | ASXL3 | c.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=) | |
18 | g.33744393G>T | CA503770621 | ASXL3 | c.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=) | |
18 | g.33744394T>A | CA402191159 | ASXL3 | c.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 |
18 | g.33744394T>C | CA402191157 | ASXL3 | c.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) | |
18 | g.33744394T>G | CA402191158 | ASXL3 | c.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) | |
18 | g.33744394T= | CA2294858117 | ASXL3 | c.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=) | |
18 | g.33744395G>A | CA402191160 | ASXL3 | c.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) | |
18 | g.33744395G>C | CA402191161 | ASXL3 | c.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) | |
18 | g.33744395G>T | CA402191162 | ASXL3 | c.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) | |
18 | g.33744396T>A | CA402191163 | ASXL3 | c.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) | |
18 | g.33744396T>C | CA503770631 | ASXL3 | c.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=) | |
18 | g.33744396T>G | CA402191164 | ASXL3 | c.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) | |
18 | g.33744397C>A | CA402191165 | ASXL3 | c.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) | |
18 | g.33744397C= | CA2294858118 | ASXL3 | c.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=) | |
18 | g.33744397C>G | CA402191166 | ASXL3 | c.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) | |
18 | g.33744397C>T | CA402191167 | ASXL3 | c.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 |
18 | g.33744398C>A | CA402191168 | ASXL3 | c.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 |
18 | g.33744398C>G | CA402191169 | ASXL3 | c.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) | |
18 | g.33744398C>T | CA402191170 | ASXL3 | c.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) | |
18 | g.33744399T>A | CA503770636 | ASXL3 | c.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=) | |
18 | g.33744399T>C | CA503770638 | ASXL3 | c.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=) | |
18 | g.33744399T>G | CA503770643 | ASXL3 | c.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=) | |
18 | g.33744400C>A | CA402191172 | ASXL3 | c.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) | |
18 | g.33744400C= | CA2294858119 | ASXL3 | c.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=) | |
18 | g.33744400C>G | CA402191173 | ASXL3 | c.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 |
18 | g.33744400C>T | CA402191171 | ASXL3 | c.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) | |
18 | g.33744401A>C | CA402191174 | ASXL3 | c.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) | |
18 | g.33744401A>G | CA402191175 | ASXL3 | c.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) | |
18 | g.33744401A>T | CA402191176 | ASXL3 | c.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) | |
18 | g.33744402G>A | CA503770649 | ASXL3 | c.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 |
18 | g.33744402G>C | CA402191177 | ASXL3 | c.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) | |
18 | g.33744402G>T | CA402191178 | ASXL3 | c.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) | |
18 | g.33744403G>A | CA402191181 | ASXL3 | c.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 |
18 | g.33744403G>C | CA402191180 | ASXL3 | c.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 |
18 | g.33744403G= | CA2294858120 | ASXL3 | c.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=) | |
18 | g.33744403G>T | CA402191179 | ASXL3 | c.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) | |
18 | g.33744404T>A | CA402191182 | ASXL3 | c.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) | |
18 | g.33744404T>C | CA402191183 | ASXL3 | c.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) | |
18 | g.33744404T>G | CA402191184 | ASXL3 | c.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) | |
18 | g.33744405G>A | CA503770655 | ASXL3 | c.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=) | |
18 | g.33744405G>C | CA503770656 | ASXL3 | c.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=) | |
18 | g.33744405G>T | CA503770657 | ASXL3 | c.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=) | |
18 | g.33744406T>A | CA402191185 | ASXL3 | c.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) | |
18 | g.33744406T>C | CA402191186 | ASXL3 | c.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) | |
18 | g.33744406T>G | CA402191187 | ASXL3 | c.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) | |
18 | g.33744407C>A | CA402191188 | ASXL3 | c.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 |
18 | g.33744407C= | CA2294858121 | ASXL3 | c.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=) | |
18 | g.33744407C>G | CA402191189 | ASXL3 | c.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) | |
18 | g.33744407C>T | CA297793668 | ASXL3 | c.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 |
18 | g.33744408T>A | CA503770661 | ASXL3 | c.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=) | |
18 | g.33744408T>C | CA503770662 | ASXL3 | c.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=) | |
18 | g.33744408T>G | CA503770664 | ASXL3 | c.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=) | |
18 | g.33744409G>A | CA402191190 | ASXL3 | c.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) | |
18 | g.33744409G>C | CA402191191 | ASXL3 | c.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) | |
18 | g.33744409G>T | CA402191192 | ASXL3 | c.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) | |
18 | g.33744410T>A | CA402191193 | ASXL3 | c.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 |
18 | g.33744410T>C | CA402191194 | ASXL3 | c.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) | |
18 | g.33744410T>G | CA402191195 | ASXL3 | c.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) | |
18 | g.33744411G>A | CA503770666 | ASXL3 | c.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=) | |
18 | g.33744411G>C | CA503770668 | ASXL3 | c.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=) | |
18 | g.33744411G>T | CA503770667 | ASXL3 | c.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=) | |
18 | g.33744412A= | CA2294858122 | ASXL3 | c.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=) | |
18 | g.33744412A>C | CA402191196 | ASXL3 | c.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 |
18 | g.33744412A>G | CA402191197 | ASXL3 | c.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 |
18 | g.33744412A>T | CA402191198 | ASXL3 | c.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) | |
18 | g.33744413T>A | CA402191199 | ASXL3 | c.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) | |
18 | g.33744413T>C | CA402191200 | ASXL3 | c.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) | |
18 | g.33744413T>G | CA402191201 | ASXL3 | c.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) | |
18 | g.33744414T>A | CA503770674 | ASXL3 | c.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=) | |
18 | g.33744414T>C | CA503770676 | ASXL3 | c.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=) | |
18 | g.33744414T>G | CA402191202 | ASXL3 | c.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) | |
18 | g.33744415A>C | CA402191204 | ASXL3 | c.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) | |
18 | g.33744415A>G | CA402191203 | ASXL3 | c.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) | |
18 | g.33744415A>T | CA402191205 | ASXL3 | c.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) | |
18 | g.33744417_33744419del | CA2641457828 | ASXL3 | c.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 |
18 | g.33744416G>A | CA402191206 | ASXL3 | c.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) | |
18 | g.33744416G>C | CA402191207 | ASXL3 | c.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 |
18 | g.33744416G= | CA2294858123 | ASXL3 | c.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=) | |
18 | g.33744416G>T | CA402191208 | ASXL3 | c.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) | |
18 | g.33744417C>A | CA402191209 | ASXL3 | c.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) | |
18 | g.33744417C= | CA2294858124 | ASXL3 | c.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=) | |
18 | g.33744417C>G | CA402191210 | ASXL3 | c.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) | |
18 | g.33744417C>T | CA8934288 | ASXL3 | c.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 |
18 | g.33744418A>C | CA503770683 | ASXL3 | c.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=) | |
18 | g.33744418A>G | CA402191211 | ASXL3 | c.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) | |
18 | g.33744418A>T | CA402191212 | ASXL3 | c.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) | |
18 | g.33744419G>A | CA402191213 | ASXL3 | c.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) | |
18 | g.33744419G>C | CA402191214 | ASXL3 | c.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) | |
18 | g.33744419G>T | CA402191215 | ASXL3 | c.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) | |
18 | g.33744420G>A | CA503770688 | ASXL3 | c.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=) | |
18 | g.33744420G>C | CA402191216 | ASXL3 | c.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) | |
18 | g.33744420G>T | CA402191217 | ASXL3 | c.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 |
18 | g.33744421C>A | CA402191220 | ASXL3 | c.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) | |
18 | g.33744421C= | CA2294858125 | ASXL3 | c.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=) | |
18 | g.33744421C>G | CA402191219 | ASXL3 | c.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) | |
18 | g.33744421C>T | CA402191218 | ASXL3 | c.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 |
18 | g.33744422C>A | CA402191221 | ASXL3 | c.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) | |
18 | g.33744422C= | CA2294858126 | ASXL3 | c.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=) | |
18 | g.33744422C>G | CA297793671 | ASXL3 | c.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 |
18 | g.33744422C>T | CA402191222 | ASXL3 | c.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) | |
18 | g.33744423T>A | CA503770694 | ASXL3 | c.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=) | |
18 | g.33744423T>C | CA503770696 | ASXL3 | c.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=) | |
18 | g.33744423T>G | CA503770698 | ASXL3 | c.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=) | |
18 | g.33744424G>A | CA402191223 | ASXL3 | c.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) | |
18 | g.33744424G>C | CA402191224 | ASXL3 | c.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) | |
18 | g.33744424G>T | CA402191225 | ASXL3 | c.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) | |
18 | g.33744425A>C | CA402191226 | ASXL3 | c.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) | |
18 | g.33744425A>G | CA402191227 | ASXL3 | c.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) | |
18 | g.33744425A>T | CA402191228 | ASXL3 | c.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) | |
18 | g.33744426G>A | CA503770699 | ASXL3 | c.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 |
18 | g.33744426G>C | CA402191229 | ASXL3 | c.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) | |
18 | g.33744426G= | CA2294858127 | ASXL3 | c.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=) | |
18 | g.33744426G>T | CA402191230 | ASXL3 | c.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) | |
18 | g.33744427C>A | CA402191231 | ASXL3 | c.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) | |
18 | g.33744427C>G | CA402191232 | ASXL3 | c.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) | |
18 | g.33744427C>T | CA402191233 | ASXL3 | c.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 |
18 | g.33744428C>A | CA402191235 | ASXL3 | c.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) | |
18 | g.33744428C= | CA2294858128 | ASXL3 | c.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=) | |
18 | g.33744428C>G | CA402191236 | ASXL3 | c.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) | |
18 | g.33744428C>T | CA402191234 | ASXL3 | c.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 |
18 | g.33744429A= | CA2294858129 | ASXL3 | c.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=) | |
18 | g.33744429A>C | CA297793674 | ASXL3 | c.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 |
18 | g.33744429A>G | CA503770705 | ASXL3 | c.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=) | |
18 | g.33744429A>T | CA503770707 | ASXL3 | c.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=) | |
18 | g.33744430G>A | CA402191237 | ASXL3 | c.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 |
18 | g.33744430G>C | CA402191238 | ASXL3 | c.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 |
18 | g.33744430G= | CA2294858130 | ASXL3 | c.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=) | |
18 | g.33744430G>T | CA402191239 | ASXL3 | c.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) | |
18 | g.33744431T>A | CA402191240 | ASXL3 | c.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 |
18 | g.33744431T>C | CA402191241 | ASXL3 | c.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) | |
18 | g.33744431T>G | CA402191242 | ASXL3 | c.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) | |
18 | g.33744432T>A | CA503770710 | ASXL3 | c.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=) | |
18 | g.33744432T>C | CA503770711 | ASXL3 | c.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 |
18 | g.33744432T>G | CA503770712 | ASXL3 | c.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=) | |
18 | g.33744433G>A | CA402191243 | ASXL3 | c.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) | |
18 | g.33744433G>C | CA402191244 | ASXL3 | c.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) | |
18 | g.33744433G= | CA2294858131 | ASXL3 | c.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=) | |
18 | g.33744433G>T | CA402191245 | ASXL3 | c.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 |
18 | g.33744434C>A | CA402191246 | ASXL3 | c.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) | |
18 | g.33744434C= | CA2294858132 | ASXL3 | c.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=) | |
18 | g.33744434C>G | CA402191247 | ASXL3 | c.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 |
18 | g.33744434C>T | CA402191248 | ASXL3 | c.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 |
18 | g.33744435C>A | CA503770715 | ASXL3 | c.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=) | |
18 | g.33744435C>G | CA503770716 | ASXL3 | c.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=) | |
18 | g.33744435C>T | CA503770717 | ASXL3 | c.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=) | |
18 | g.33744436A>C | CA402191251 | ASXL3 | c.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) | |
18 | g.33744436A>G | CA402191249 | ASXL3 | c.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) | |
18 | g.33744436A>T | CA402191250 | ASXL3 | c.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) | |
18 | g.33744437A= | CA2294858133 | ASXL3 | c.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=) | |
18 | g.33744437A>C | CA402191252 | ASXL3 | c.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) | |
18 | g.33744437A>G | CA8934289 | ASXL3 | c.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 |
18 | g.33744437A>T | CA402191253 | ASXL3 | c.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) | |
18 | g.33744437_33744438insTCCTCCAC | CA2812055545 | ASXL3 | c.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) | |
18 | g.33744437_33744438insTCCTCCACCGTCTCACCCTGAGACTGCTGCGGCTCACGCTGACGCTTACGGTACAAATTGATGTACGTATTCGTCAGGATGCGGTACAGCCACGCCTTCAGGTTCGTAC | CA2812055544 | ASXL3 | c.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) | |
18 | g.33744438C>A | CA402191254 | ASXL3 | c.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) | |
18 | g.33744438C= | CA2294858134 | ASXL3 | c.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=) | |
18 | g.33744438C>G | CA8934291 | ASXL3 | c.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 |
18 | g.33744438C>T | CA8934290 | ASXL3 | c.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 |
18 | g.33744439G>A | CA297793685 | ASXL3 | c.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 |
18 | g.33744439G>C | CA402191255 | ASXL3 | c.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) | |
18 | g.33744439G= | CA2294858135 | ASXL3 | c.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=) | |
18 | g.33744439G>T | CA402191256 | ASXL3 | c.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) | |
18 | g.33744439_33744440insTCTCACCCTGAGACTGCTGCGGCTCACGCTGACGCTTACGGTAC | CA2812055548 | ASXL3 | c.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) | |
18 | g.33744440A>C | CA402191257 | ASXL3 | c.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) | |
18 | g.33744440A>G | CA402191258 | ASXL3 | c.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 |
18 | g.33744440A>T | CA402191259 | ASXL3 | c.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) | |
18 | g.33744441A= | CA2294858136 | ASXL3 | c.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=) | |
18 | g.33744441A>C | CA402191260 | ASXL3 | c.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 |
18 | g.33744441A>G | CA503770726 | ASXL3 | c.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=) | |
18 | g.33744441A>T | CA402191261 | ASXL3 | c.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) | |
18 | g.33744441_33744442insATTGATGTACGTATTCGTCAGGAT | CA2812055551 | ASXL3 | c.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) | |
18 | g.33744442G>A | CA402191262 | ASXL3 | c.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 |
18 | g.33744442G>C | CA402191264 | ASXL3 | c.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) | |
18 | g.33744442G>T | CA402191263 | ASXL3 | c.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) | |
18 | g.33744443G>A | CA402191265 | ASXL3 | c.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 |
18 | g.33744443G>C | CA402191266 | ASXL3 | c.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) | |
18 | g.33744443G= | CA2294858137 | ASXL3 | c.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=) | |
18 | g.33744443G>T | CA402191267 | ASXL3 | c.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) | |
18 | g.33744444T>A | CA503770730 | ASXL3 | c.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=) | |
18 | g.33744444T>C | CA503770732 | ASXL3 | c.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=) | |
18 | g.33744444T>G | CA503770731 | ASXL3 | c.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=) | |
18 | g.33744445A= | CA2294858138 | ASXL3 | c.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=) | |
18 | g.33744445A>C | CA402191268 | ASXL3 | c.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) | |
18 | g.33744445A>G | CA8934292 | ASXL3 | c.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 |
18 | g.33744445A>T | CA402191269 | ASXL3 | c.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) | |
18 | g.33744446T>A | CA402191270 | ASXL3 | c.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) | |
18 | g.33744446T>C | CA402191271 | ASXL3 | c.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 |
18 | g.33744446T>G | CA402191272 | ASXL3 | c.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 |
18 | g.33744446T= | CA2294858139 | ASXL3 | c.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=) | |
18 | g.33744447A>C | CA503770735 | ASXL3 | c.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=) | |
18 | g.33744447A>G | CA402191273 | ASXL3 | c.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) | |
18 | g.33744447A>T | CA503770736 | ASXL3 | c.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=) | |
18 | g.33744448G>A | CA402191274 | ASXL3 | c.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) | |
18 | g.33744448G>C | CA402191275 | ASXL3 | c.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 |
18 | g.33744448G= | CA2294858140 | ASXL3 | c.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=) | |
18 | g.33744448G>T | CA402191276 | ASXL3 | c.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) | |
18 | g.33744449A>C | CA402191277 | ASXL3 | c.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) | |
18 | g.33744449A>G | CA402191279 | ASXL3 | c.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) | |
18 | g.33744449A>T | CA402191278 | ASXL3 | c.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 |