Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.33744172G>ACA402190674ASXL3c.4327G>A (p.Gly1443Arg)
c.4324G>A (p.Gly1442Arg)
c.4204G>A (p.Gly1402Arg)
c.4300G>A (p.Gly1434Arg)
c.4246G>A (p.Gly1416Arg)
c.4207G>A (p.Gly1403Arg)
c.4156G>A (p.Gly1386Arg)
c.1288G>A (p.Gly430Arg)
 gnomAD v4
18g.33744172G>CCA402190675ASXL3c.4327G>C (p.Gly1443Arg)
c.4324G>C (p.Gly1442Arg)
c.4204G>C (p.Gly1402Arg)
c.4300G>C (p.Gly1434Arg)
c.4246G>C (p.Gly1416Arg)
c.4207G>C (p.Gly1403Arg)
c.4156G>C (p.Gly1386Arg)
c.1288G>C (p.Gly430Arg)
18g.33744172G>TCA402190676ASXL3c.4327G>T (p.Gly1443Trp)
c.4324G>T (p.Gly1442Trp)
c.4204G>T (p.Gly1402Trp)
c.4300G>T (p.Gly1434Trp)
c.4246G>T (p.Gly1416Trp)
c.4207G>T (p.Gly1403Trp)
c.4156G>T (p.Gly1386Trp)
c.1288G>T (p.Gly430Trp)
18g.33744173G>ACA8934237ASXL3c.4328G>A (p.Gly1443Glu)
c.4325G>A (p.Gly1442Glu)
c.4205G>A (p.Gly1402Glu)
c.4301G>A (p.Gly1434Glu)
c.4247G>A (p.Gly1416Glu)
c.4208G>A (p.Gly1403Glu)
c.4157G>A (p.Gly1386Glu)
c.1289G>A (p.Gly430Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744173G>CCA402190678ASXL3c.4328G>C (p.Gly1443Ala)
c.4325G>C (p.Gly1442Ala)
c.4205G>C (p.Gly1402Ala)
c.4301G>C (p.Gly1434Ala)
c.4247G>C (p.Gly1416Ala)
c.4208G>C (p.Gly1403Ala)
c.4157G>C (p.Gly1386Ala)
c.1289G>C (p.Gly430Ala)
18g.33744173G=CA2294858021ASXL3c.4328G= (p.Gly1443=)
c.4325G= (p.Gly1442=)
c.4205G= (p.Gly1402=)
c.4301G= (p.Gly1434=)
c.4247G= (p.Gly1416=)
c.4208G= (p.Gly1403=)
c.4157G= (p.Gly1386=)
c.1289G= (p.Gly430=)
18g.33744173G>TCA402190677ASXL3c.4328G>T (p.Gly1443Val)
c.4325G>T (p.Gly1442Val)
c.4205G>T (p.Gly1402Val)
c.4301G>T (p.Gly1434Val)
c.4247G>T (p.Gly1416Val)
c.4208G>T (p.Gly1403Val)
c.4157G>T (p.Gly1386Val)
c.1289G>T (p.Gly430Val)
18g.33744174G>ACA503770537ASXL3c.4329G>A (p.Gly1443=)
c.4326G>A (p.Gly1442=)
c.4206G>A (p.Gly1402=)
c.4302G>A (p.Gly1434=)
c.4248G>A (p.Gly1416=)
c.4209G>A (p.Gly1403=)
c.4158G>A (p.Gly1386=)
c.1290G>A (p.Gly430=)
 dbSNP gnomAD v3 gnomAD v4
18g.33744174G>CCA503770539ASXL3c.4329G>C (p.Gly1443=)
c.4326G>C (p.Gly1442=)
c.4206G>C (p.Gly1402=)
c.4302G>C (p.Gly1434=)
c.4248G>C (p.Gly1416=)
c.4209G>C (p.Gly1403=)
c.4158G>C (p.Gly1386=)
c.1290G>C (p.Gly430=)
18g.33744174G=CA2294858022ASXL3c.4329G= (p.Gly1443=)
c.4326G= (p.Gly1442=)
c.4206G= (p.Gly1402=)
c.4302G= (p.Gly1434=)
c.4248G= (p.Gly1416=)
c.4209G= (p.Gly1403=)
c.4158G= (p.Gly1386=)
c.1290G= (p.Gly430=)
18g.33744174G>TCA503770540ASXL3c.4329G>T (p.Gly1443=)
c.4326G>T (p.Gly1442=)
c.4206G>T (p.Gly1402=)
c.4302G>T (p.Gly1434=)
c.4248G>T (p.Gly1416=)
c.4209G>T (p.Gly1403=)
c.4158G>T (p.Gly1386=)
c.1290G>T (p.Gly430=)
18g.33744175C>ACA402190679ASXL3c.4330C>A (p.Pro1444Thr)
c.4327C>A (p.Pro1443Thr)
c.4207C>A (p.Pro1403Thr)
c.4303C>A (p.Pro1435Thr)
c.4249C>A (p.Pro1417Thr)
c.4210C>A (p.Pro1404Thr)
c.4159C>A (p.Pro1387Thr)
c.1291C>A (p.Pro431Thr)
 dbSNP
18g.33744175C=CA2294858023ASXL3c.4330C= (p.Pro1444=)
c.4327C= (p.Pro1443=)
c.4207C= (p.Pro1403=)
c.4303C= (p.Pro1435=)
c.4249C= (p.Pro1417=)
c.4210C= (p.Pro1404=)
c.4159C= (p.Pro1387=)
c.1291C= (p.Pro431=)
18g.33744175C>GCA402190680ASXL3c.4330C>G (p.Pro1444Ala)
c.4327C>G (p.Pro1443Ala)
c.4207C>G (p.Pro1403Ala)
c.4303C>G (p.Pro1435Ala)
c.4249C>G (p.Pro1417Ala)
c.4210C>G (p.Pro1404Ala)
c.4159C>G (p.Pro1387Ala)
c.1291C>G (p.Pro431Ala)
18g.33744175C>TCA402190681ASXL3c.4330C>T (p.Pro1444Ser)
c.4327C>T (p.Pro1443Ser)
c.4207C>T (p.Pro1403Ser)
c.4303C>T (p.Pro1435Ser)
c.4249C>T (p.Pro1417Ser)
c.4210C>T (p.Pro1404Ser)
c.4159C>T (p.Pro1387Ser)
c.1291C>T (p.Pro431Ser)
18g.33744176C>ACA402190682ASXL3c.4331C>A (p.Pro1444His)
c.4328C>A (p.Pro1443His)
c.4208C>A (p.Pro1403His)
c.4304C>A (p.Pro1435His)
c.4250C>A (p.Pro1417His)
c.4211C>A (p.Pro1404His)
c.4160C>A (p.Pro1387His)
c.1292C>A (p.Pro431His)
18g.33744176C=CA2294858024ASXL3c.4331C= (p.Pro1444=)
c.4328C= (p.Pro1443=)
c.4208C= (p.Pro1403=)
c.4304C= (p.Pro1435=)
c.4250C= (p.Pro1417=)
c.4211C= (p.Pro1404=)
c.4160C= (p.Pro1387=)
c.1292C= (p.Pro431=)
18g.33744176C>GCA8934239ASXL3c.4331C>G (p.Pro1444Arg)
c.4328C>G (p.Pro1443Arg)
c.4208C>G (p.Pro1403Arg)
c.4304C>G (p.Pro1435Arg)
c.4250C>G (p.Pro1417Arg)
c.4211C>G (p.Pro1404Arg)
c.4160C>G (p.Pro1387Arg)
c.1292C>G (p.Pro431Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744176C>TCA8934238ASXL3c.4331C>T (p.Pro1444Leu)
c.4328C>T (p.Pro1443Leu)
c.4208C>T (p.Pro1403Leu)
c.4304C>T (p.Pro1435Leu)
c.4250C>T (p.Pro1417Leu)
c.4211C>T (p.Pro1404Leu)
c.4160C>T (p.Pro1387Leu)
c.1292C>T (p.Pro431Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744177T>ACA503770543ASXL3c.4332T>A (p.Pro1444=)
c.4329T>A (p.Pro1443=)
c.4209T>A (p.Pro1403=)
c.4305T>A (p.Pro1435=)
c.4251T>A (p.Pro1417=)
c.4212T>A (p.Pro1404=)
c.4161T>A (p.Pro1387=)
c.1293T>A (p.Pro431=)
18g.33744177T>CCA503770545ASXL3c.4332T>C (p.Pro1444=)
c.4329T>C (p.Pro1443=)
c.4209T>C (p.Pro1403=)
c.4305T>C (p.Pro1435=)
c.4251T>C (p.Pro1417=)
c.4212T>C (p.Pro1404=)
c.4161T>C (p.Pro1387=)
c.1293T>C (p.Pro431=)
18g.33744177T>GCA503770547ASXL3c.4332T>G (p.Pro1444=)
c.4329T>G (p.Pro1443=)
c.4209T>G (p.Pro1403=)
c.4305T>G (p.Pro1435=)
c.4251T>G (p.Pro1417=)
c.4212T>G (p.Pro1404=)
c.4161T>G (p.Pro1387=)
c.1293T>G (p.Pro431=)
18g.33744178C>ACA503770548ASXL3c.4333C>A (p.Arg1445=)
c.4330C>A (p.Arg1444=)
c.4210C>A (p.Arg1404=)
c.4306C>A (p.Arg1436=)
c.4252C>A (p.Arg1418=)
c.4213C>A (p.Arg1405=)
c.4162C>A (p.Arg1388=)
c.1294C>A (p.Arg432=)
 COSMIC
18g.33744178C=CA2294858025ASXL3c.4333C= (p.Arg1445=)
c.4330C= (p.Arg1444=)
c.4210C= (p.Arg1404=)
c.4306C= (p.Arg1436=)
c.4252C= (p.Arg1418=)
c.4213C= (p.Arg1405=)
c.4162C= (p.Arg1388=)
c.1294C= (p.Arg432=)
18g.33744178C>GCA402190684ASXL3c.4333C>G (p.Arg1445Gly)
c.4330C>G (p.Arg1444Gly)
c.4210C>G (p.Arg1404Gly)
c.4306C>G (p.Arg1436Gly)
c.4252C>G (p.Arg1418Gly)
c.4213C>G (p.Arg1405Gly)
c.4162C>G (p.Arg1388Gly)
c.1294C>G (p.Arg432Gly)
18g.33744178C>TCA402190683ASXL3c.4333C>T (p.Arg1445Ter)
c.4330C>T (p.Arg1444Ter)
c.4210C>T (p.Arg1404Ter)
c.4306C>T (p.Arg1436Ter)
c.4252C>T (p.Arg1418Ter)
c.4213C>T (p.Arg1405Ter)
c.4162C>T (p.Arg1388Ter)
c.1294C>T (p.Arg432Ter)
 ClinVar dbSNP
18g.33744179G>ACA8934240ASXL3c.4334G>A (p.Arg1445Gln)
c.4331G>A (p.Arg1444Gln)
c.4211G>A (p.Arg1404Gln)
c.4307G>A (p.Arg1436Gln)
c.4253G>A (p.Arg1418Gln)
c.4214G>A (p.Arg1405Gln)
c.4163G>A (p.Arg1388Gln)
c.1295G>A (p.Arg432Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744179G>CCA402190685ASXL3c.4334G>C (p.Arg1445Pro)
c.4331G>C (p.Arg1444Pro)
c.4211G>C (p.Arg1404Pro)
c.4307G>C (p.Arg1436Pro)
c.4253G>C (p.Arg1418Pro)
c.4214G>C (p.Arg1405Pro)
c.4163G>C (p.Arg1388Pro)
c.1295G>C (p.Arg432Pro)
18g.33744179G=CA2294858026ASXL3c.4334G= (p.Arg1445=)
c.4331G= (p.Arg1444=)
c.4211G= (p.Arg1404=)
c.4307G= (p.Arg1436=)
c.4253G= (p.Arg1418=)
c.4214G= (p.Arg1405=)
c.4163G= (p.Arg1388=)
c.1295G= (p.Arg432=)
18g.33744179G>TCA402190686ASXL3c.4334G>T (p.Arg1445Leu)
c.4331G>T (p.Arg1444Leu)
c.4211G>T (p.Arg1404Leu)
c.4307G>T (p.Arg1436Leu)
c.4253G>T (p.Arg1418Leu)
c.4214G>T (p.Arg1405Leu)
c.4163G>T (p.Arg1388Leu)
c.1295G>T (p.Arg432Leu)
18g.33744180A>CCA503770551ASXL3c.4335A>C (p.Arg1445=)
c.4332A>C (p.Arg1444=)
c.4212A>C (p.Arg1404=)
c.4308A>C (p.Arg1436=)
c.4254A>C (p.Arg1418=)
c.4215A>C (p.Arg1405=)
c.4164A>C (p.Arg1388=)
c.1296A>C (p.Arg432=)
18g.33744180A>GCA503770552ASXL3c.4335A>G (p.Arg1445=)
c.4332A>G (p.Arg1444=)
c.4212A>G (p.Arg1404=)
c.4308A>G (p.Arg1436=)
c.4254A>G (p.Arg1418=)
c.4215A>G (p.Arg1405=)
c.4164A>G (p.Arg1388=)
c.1296A>G (p.Arg432=)
18g.33744180A>TCA503770554ASXL3c.4335A>T (p.Arg1445=)
c.4332A>T (p.Arg1444=)
c.4212A>T (p.Arg1404=)
c.4308A>T (p.Arg1436=)
c.4254A>T (p.Arg1418=)
c.4215A>T (p.Arg1405=)
c.4164A>T (p.Arg1388=)
c.1296A>T (p.Arg432=)
18g.33744181A>CCA402190687ASXL3c.4336A>C (p.Asn1446His)
c.4333A>C (p.Asn1445His)
c.4213A>C (p.Asn1405His)
c.4309A>C (p.Asn1437His)
c.4255A>C (p.Asn1419His)
c.4216A>C (p.Asn1406His)
c.4165A>C (p.Asn1389His)
c.1297A>C (p.Asn433His)
18g.33744181A>GCA402190688ASXL3c.4336A>G (p.Asn1446Asp)
c.4333A>G (p.Asn1445Asp)
c.4213A>G (p.Asn1405Asp)
c.4309A>G (p.Asn1437Asp)
c.4255A>G (p.Asn1419Asp)
c.4216A>G (p.Asn1406Asp)
c.4165A>G (p.Asn1389Asp)
c.1297A>G (p.Asn433Asp)
18g.33744181A>TCA402190689ASXL3c.4336A>T (p.Asn1446Tyr)
c.4333A>T (p.Asn1445Tyr)
c.4213A>T (p.Asn1405Tyr)
c.4309A>T (p.Asn1437Tyr)
c.4255A>T (p.Asn1419Tyr)
c.4216A>T (p.Asn1406Tyr)
c.4165A>T (p.Asn1389Tyr)
c.1297A>T (p.Asn433Tyr)
18g.33744182A=CA2294858027ASXL3c.4337A= (p.Asn1446=)
c.4334A= (p.Asn1445=)
c.4214A= (p.Asn1405=)
c.4310A= (p.Asn1437=)
c.4256A= (p.Asn1419=)
c.4217A= (p.Asn1406=)
c.4166A= (p.Asn1389=)
c.1298A= (p.Asn433=)
18g.33744182A>CCA402190690ASXL3c.4337A>C (p.Asn1446Thr)
c.4334A>C (p.Asn1445Thr)
c.4214A>C (p.Asn1405Thr)
c.4310A>C (p.Asn1437Thr)
c.4256A>C (p.Asn1419Thr)
c.4217A>C (p.Asn1406Thr)
c.4166A>C (p.Asn1389Thr)
c.1298A>C (p.Asn433Thr)
 dbSNP gnomAD v3 gnomAD v4
18g.33744182A>GCA402190692ASXL3c.4337A>G (p.Asn1446Ser)
c.4334A>G (p.Asn1445Ser)
c.4214A>G (p.Asn1405Ser)
c.4310A>G (p.Asn1437Ser)
c.4256A>G (p.Asn1419Ser)
c.4217A>G (p.Asn1406Ser)
c.4166A>G (p.Asn1389Ser)
c.1298A>G (p.Asn433Ser)
18g.33744182A>TCA402190691ASXL3c.4337A>T (p.Asn1446Ile)
c.4334A>T (p.Asn1445Ile)
c.4214A>T (p.Asn1405Ile)
c.4310A>T (p.Asn1437Ile)
c.4256A>T (p.Asn1419Ile)
c.4217A>T (p.Asn1406Ile)
c.4166A>T (p.Asn1389Ile)
c.1298A>T (p.Asn433Ile)
18g.33744183C>ACA402190693ASXL3c.4338C>A (p.Asn1446Lys)
c.4335C>A (p.Asn1445Lys)
c.4215C>A (p.Asn1405Lys)
c.4311C>A (p.Asn1437Lys)
c.4257C>A (p.Asn1419Lys)
c.4218C>A (p.Asn1406Lys)
c.4167C>A (p.Asn1389Lys)
c.1299C>A (p.Asn433Lys)
18g.33744183C=CA2294858029ASXL3c.4338C= (p.Asn1446=)
c.4335C= (p.Asn1445=)
c.4215C= (p.Asn1405=)
c.4311C= (p.Asn1437=)
c.4257C= (p.Asn1419=)
c.4218C= (p.Asn1406=)
c.4167C= (p.Asn1389=)
c.1299C= (p.Asn433=)
18g.33744183C>GCA402190694ASXL3c.4338C>G (p.Asn1446Lys)
c.4335C>G (p.Asn1445Lys)
c.4215C>G (p.Asn1405Lys)
c.4311C>G (p.Asn1437Lys)
c.4257C>G (p.Asn1419Lys)
c.4218C>G (p.Asn1406Lys)
c.4167C>G (p.Asn1389Lys)
c.1299C>G (p.Asn433Lys)
18g.33744183C>TCA503770563ASXL3c.4338C>T (p.Asn1446=)
c.4335C>T (p.Asn1445=)
c.4215C>T (p.Asn1405=)
c.4311C>T (p.Asn1437=)
c.4257C>T (p.Asn1419=)
c.4218C>T (p.Asn1406=)
c.4167C>T (p.Asn1389=)
c.1299C>T (p.Asn433=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.33744183_33744185delinsCAGCA2294858028ASXL3c.4338_4340delinsCAG (p.Asn1446=)
c.4335_4337delinsCAG (p.Asn1445=)
c.4215_4217delinsCAG (p.Asn1405=)
c.4311_4313delinsCAG (p.Asn1437=)
c.4257_4259delinsCAG (p.Asn1419=)
c.4218_4220delinsCAG (p.Asn1406=)
c.4167_4169delinsCAG (p.Asn1389=)
c.1299_1301delinsCAG (p.Asn433=)
18g.33744184A=CA2294858030ASXL3c.4339A= (p.Arg1447=)
c.4336A= (p.Arg1446=)
c.4216A= (p.Arg1406=)
c.4312A= (p.Arg1438=)
c.4258A= (p.Arg1420=)
c.4219A= (p.Arg1407=)
c.4168A= (p.Arg1390=)
c.1300A= (p.Arg434=)
18g.33744184A>CCA503770564ASXL3c.4339A>C (p.Arg1447=)
c.4336A>C (p.Arg1446=)
c.4216A>C (p.Arg1406=)
c.4312A>C (p.Arg1438=)
c.4258A>C (p.Arg1420=)
c.4219A>C (p.Arg1407=)
c.4168A>C (p.Arg1390=)
c.1300A>C (p.Arg434=)
 gnomAD v4
18g.33744184A>GCA402190695ASXL3c.4339A>G (p.Arg1447Gly)
c.4336A>G (p.Arg1446Gly)
c.4216A>G (p.Arg1406Gly)
c.4312A>G (p.Arg1438Gly)
c.4258A>G (p.Arg1420Gly)
c.4219A>G (p.Arg1407Gly)
c.4168A>G (p.Arg1390Gly)
c.1300A>G (p.Arg434Gly)
 gnomAD v4
18g.33744184A>TCA8934241ASXL3c.4339A>T (p.Arg1447Trp)
c.4336A>T (p.Arg1446Trp)
c.4216A>T (p.Arg1406Trp)
c.4312A>T (p.Arg1438Trp)
c.4258A>T (p.Arg1420Trp)
c.4219A>T (p.Arg1407Trp)
c.4168A>T (p.Arg1390Trp)
c.1300A>T (p.Arg434Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744184_33744185delCA915952507ASXL3c.4339_4340del (p.Arg1447GlyfsTer3)
c.4336_4337del (p.Arg1446GlyfsTer3)
c.4216_4217del (p.Arg1406GlyfsTer3)
c.4312_4313del (p.Arg1438GlyfsTer3)
c.4258_4259del (p.Arg1420GlyfsTer3)
c.4219_4220del (p.Arg1407GlyfsTer3)
c.4168_4169del (p.Arg1390GlyfsTer3)
c.1300_1301del (p.Arg434GlyfsTer3)
 ClinVar dbSNP
18g.33744185G>ACA402190696ASXL3c.4340G>A (p.Arg1447Lys)
c.4337G>A (p.Arg1446Lys)
c.4217G>A (p.Arg1406Lys)
c.4313G>A (p.Arg1438Lys)
c.4259G>A (p.Arg1420Lys)
c.4220G>A (p.Arg1407Lys)
c.4169G>A (p.Arg1390Lys)
c.1301G>A (p.Arg434Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33744185G>CCA402190697ASXL3c.4340G>C (p.Arg1447Thr)
c.4337G>C (p.Arg1446Thr)
c.4217G>C (p.Arg1406Thr)
c.4313G>C (p.Arg1438Thr)
c.4259G>C (p.Arg1420Thr)
c.4220G>C (p.Arg1407Thr)
c.4169G>C (p.Arg1390Thr)
c.1301G>C (p.Arg434Thr)
18g.33744185G=CA2294858031ASXL3c.4340G= (p.Arg1447=)
c.4337G= (p.Arg1446=)
c.4217G= (p.Arg1406=)
c.4313G= (p.Arg1438=)
c.4259G= (p.Arg1420=)
c.4220G= (p.Arg1407=)
c.4169G= (p.Arg1390=)
c.1301G= (p.Arg434=)
18g.33744185G>TCA402190698ASXL3c.4340G>T (p.Arg1447Met)
c.4337G>T (p.Arg1446Met)
c.4217G>T (p.Arg1406Met)
c.4313G>T (p.Arg1438Met)
c.4259G>T (p.Arg1420Met)
c.4220G>T (p.Arg1407Met)
c.4169G>T (p.Arg1390Met)
c.1301G>T (p.Arg434Met)
18g.33744186G>ACA503770567ASXL3c.4341G>A (p.Arg1447=)
c.4338G>A (p.Arg1446=)
c.4218G>A (p.Arg1406=)
c.4314G>A (p.Arg1438=)
c.4260G>A (p.Arg1420=)
c.4221G>A (p.Arg1407=)
c.4170G>A (p.Arg1390=)
c.1302G>A (p.Arg434=)
 dbSNP gnomAD v2 gnomAD v4
18g.33744186G>CCA402190699ASXL3c.4341G>C (p.Arg1447Ser)
c.4338G>C (p.Arg1446Ser)
c.4218G>C (p.Arg1406Ser)
c.4314G>C (p.Arg1438Ser)
c.4260G>C (p.Arg1420Ser)
c.4221G>C (p.Arg1407Ser)
c.4170G>C (p.Arg1390Ser)
c.1302G>C (p.Arg434Ser)
18g.33744186G=CA2294858032ASXL3c.4341G= (p.Arg1447=)
c.4338G= (p.Arg1446=)
c.4218G= (p.Arg1406=)
c.4314G= (p.Arg1438=)
c.4260G= (p.Arg1420=)
c.4221G= (p.Arg1407=)
c.4170G= (p.Arg1390=)
c.1302G= (p.Arg434=)
18g.33744186G>TCA402190700ASXL3c.4341G>T (p.Arg1447Ser)
c.4338G>T (p.Arg1446Ser)
c.4218G>T (p.Arg1406Ser)
c.4314G>T (p.Arg1438Ser)
c.4260G>T (p.Arg1420Ser)
c.4221G>T (p.Arg1407Ser)
c.4170G>T (p.Arg1390Ser)
c.1302G>T (p.Arg434Ser)
 ClinVar dbSNP
18g.33744187G>ACA402190701ASXL3c.4342G>A (p.Ala1448Thr)
c.4339G>A (p.Ala1447Thr)
c.4219G>A (p.Ala1407Thr)
c.4315G>A (p.Ala1439Thr)
c.4261G>A (p.Ala1421Thr)
c.4222G>A (p.Ala1408Thr)
c.4171G>A (p.Ala1391Thr)
c.1303G>A (p.Ala435Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33744187G>CCA402190702ASXL3c.4342G>C (p.Ala1448Pro)
c.4339G>C (p.Ala1447Pro)
c.4219G>C (p.Ala1407Pro)
c.4315G>C (p.Ala1439Pro)
c.4261G>C (p.Ala1421Pro)
c.4222G>C (p.Ala1408Pro)
c.4171G>C (p.Ala1391Pro)
c.1303G>C (p.Ala435Pro)
18g.33744187G=CA2294858033ASXL3c.4342G= (p.Ala1448=)
c.4339G= (p.Ala1447=)
c.4219G= (p.Ala1407=)
c.4315G= (p.Ala1439=)
c.4261G= (p.Ala1421=)
c.4222G= (p.Ala1408=)
c.4171G= (p.Ala1391=)
c.1303G= (p.Ala435=)
18g.33744187G>TCA8934242ASXL3c.4342G>T (p.Ala1448Ser)
c.4339G>T (p.Ala1447Ser)
c.4219G>T (p.Ala1407Ser)
c.4315G>T (p.Ala1439Ser)
c.4261G>T (p.Ala1421Ser)
c.4222G>T (p.Ala1408Ser)
c.4171G>T (p.Ala1391Ser)
c.1303G>T (p.Ala435Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744188C>ACA402190704ASXL3c.4343C>A (p.Ala1448Glu)
c.4340C>A (p.Ala1447Glu)
c.4220C>A (p.Ala1407Glu)
c.4316C>A (p.Ala1439Glu)
c.4262C>A (p.Ala1421Glu)
c.4223C>A (p.Ala1408Glu)
c.4172C>A (p.Ala1391Glu)
c.1304C>A (p.Ala435Glu)
18g.33744188C>GCA402190705ASXL3c.4343C>G (p.Ala1448Gly)
c.4340C>G (p.Ala1447Gly)
c.4220C>G (p.Ala1407Gly)
c.4316C>G (p.Ala1439Gly)
c.4262C>G (p.Ala1421Gly)
c.4223C>G (p.Ala1408Gly)
c.4172C>G (p.Ala1391Gly)
c.1304C>G (p.Ala435Gly)
18g.33744188C>TCA402190703ASXL3c.4343C>T (p.Ala1448Val)
c.4340C>T (p.Ala1447Val)
c.4220C>T (p.Ala1407Val)
c.4316C>T (p.Ala1439Val)
c.4262C>T (p.Ala1421Val)
c.4223C>T (p.Ala1408Val)
c.4172C>T (p.Ala1391Val)
c.1304C>T (p.Ala435Val)
18g.33744189A>CCA503770577ASXL3c.4344A>C (p.Ala1448=)
c.4341A>C (p.Ala1447=)
c.4221A>C (p.Ala1407=)
c.4317A>C (p.Ala1439=)
c.4263A>C (p.Ala1421=)
c.4224A>C (p.Ala1408=)
c.4173A>C (p.Ala1391=)
c.1305A>C (p.Ala435=)
18g.33744189A>GCA503770578ASXL3c.4344A>G (p.Ala1448=)
c.4341A>G (p.Ala1447=)
c.4221A>G (p.Ala1407=)
c.4317A>G (p.Ala1439=)
c.4263A>G (p.Ala1421=)
c.4224A>G (p.Ala1408=)
c.4173A>G (p.Ala1391=)
c.1305A>G (p.Ala435=)
 gnomAD v4
18g.33744189A>TCA503770579ASXL3c.4344A>T (p.Ala1448=)
c.4341A>T (p.Ala1447=)
c.4221A>T (p.Ala1407=)
c.4317A>T (p.Ala1439=)
c.4263A>T (p.Ala1421=)
c.4224A>T (p.Ala1408=)
c.4173A>T (p.Ala1391=)
c.1305A>T (p.Ala435=)
18g.33744190G>ACA8934243ASXL3c.4345G>A (p.Asp1449Asn)
c.4342G>A (p.Asp1448Asn)
c.4222G>A (p.Asp1408Asn)
c.4318G>A (p.Asp1440Asn)
c.4264G>A (p.Asp1422Asn)
c.4225G>A (p.Asp1409Asn)
c.4174G>A (p.Asp1392Asn)
c.1306G>A (p.Asp436Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744190G>CCA402190706ASXL3c.4345G>C (p.Asp1449His)
c.4342G>C (p.Asp1448His)
c.4222G>C (p.Asp1408His)
c.4318G>C (p.Asp1440His)
c.4264G>C (p.Asp1422His)
c.4225G>C (p.Asp1409His)
c.4174G>C (p.Asp1392His)
c.1306G>C (p.Asp436His)
18g.33744190G=CA2294858034ASXL3c.4345G= (p.Asp1449=)
c.4342G= (p.Asp1448=)
c.4222G= (p.Asp1408=)
c.4318G= (p.Asp1440=)
c.4264G= (p.Asp1422=)
c.4225G= (p.Asp1409=)
c.4174G= (p.Asp1392=)
c.1306G= (p.Asp436=)
18g.33744190G>TCA402190707ASXL3c.4345G>T (p.Asp1449Tyr)
c.4342G>T (p.Asp1448Tyr)
c.4222G>T (p.Asp1408Tyr)
c.4318G>T (p.Asp1440Tyr)
c.4264G>T (p.Asp1422Tyr)
c.4225G>T (p.Asp1409Tyr)
c.4174G>T (p.Asp1392Tyr)
c.1306G>T (p.Asp436Tyr)
18g.33744191A=CA2294858035ASXL3c.4346A= (p.Asp1449=)
c.4343A= (p.Asp1448=)
c.4223A= (p.Asp1408=)
c.4319A= (p.Asp1440=)
c.4265A= (p.Asp1422=)
c.4226A= (p.Asp1409=)
c.4175A= (p.Asp1392=)
c.1307A= (p.Asp436=)
18g.33744191A>CCA402190708ASXL3c.4346A>C (p.Asp1449Ala)
c.4343A>C (p.Asp1448Ala)
c.4223A>C (p.Asp1408Ala)
c.4319A>C (p.Asp1440Ala)
c.4265A>C (p.Asp1422Ala)
c.4226A>C (p.Asp1409Ala)
c.4175A>C (p.Asp1392Ala)
c.1307A>C (p.Asp436Ala)
18g.33744191A>GCA402190709ASXL3c.4346A>G (p.Asp1449Gly)
c.4343A>G (p.Asp1448Gly)
c.4223A>G (p.Asp1408Gly)
c.4319A>G (p.Asp1440Gly)
c.4265A>G (p.Asp1422Gly)
c.4226A>G (p.Asp1409Gly)
c.4175A>G (p.Asp1392Gly)
c.1307A>G (p.Asp436Gly)
 dbSNP gnomAD v4
18g.33744191A>TCA402190710ASXL3c.4346A>T (p.Asp1449Val)
c.4343A>T (p.Asp1448Val)
c.4223A>T (p.Asp1408Val)
c.4319A>T (p.Asp1440Val)
c.4265A>T (p.Asp1422Val)
c.4226A>T (p.Asp1409Val)
c.4175A>T (p.Asp1392Val)
c.1307A>T (p.Asp436Val)
18g.33744192T>ACA402190711ASXL3c.4347T>A (p.Asp1449Glu)
c.4344T>A (p.Asp1448Glu)
c.4224T>A (p.Asp1408Glu)
c.4320T>A (p.Asp1440Glu)
c.4266T>A (p.Asp1422Glu)
c.4227T>A (p.Asp1409Glu)
c.4176T>A (p.Asp1392Glu)
c.1308T>A (p.Asp436Glu)
 gnomAD v4
18g.33744192T>CCA503770583ASXL3c.4347T>C (p.Asp1449=)
c.4344T>C (p.Asp1448=)
c.4224T>C (p.Asp1408=)
c.4320T>C (p.Asp1440=)
c.4266T>C (p.Asp1422=)
c.4227T>C (p.Asp1409=)
c.4176T>C (p.Asp1392=)
c.1308T>C (p.Asp436=)
18g.33744192T>GCA402190712ASXL3c.4347T>G (p.Asp1449Glu)
c.4344T>G (p.Asp1448Glu)
c.4224T>G (p.Asp1408Glu)
c.4320T>G (p.Asp1440Glu)
c.4266T>G (p.Asp1422Glu)
c.4227T>G (p.Asp1409Glu)
c.4176T>G (p.Asp1392Glu)
c.1308T>G (p.Asp436Glu)
18g.33744193A=CA2294858036ASXL3c.4348A= (p.Asn1450=)
c.4345A= (p.Asn1449=)
c.4225A= (p.Asn1409=)
c.4321A= (p.Asn1441=)
c.4267A= (p.Asn1423=)
c.4228A= (p.Asn1410=)
c.4177A= (p.Asn1393=)
c.1309A= (p.Asn437=)
18g.33744193A>CCA402190713ASXL3c.4348A>C (p.Asn1450His)
c.4345A>C (p.Asn1449His)
c.4225A>C (p.Asn1409His)
c.4321A>C (p.Asn1441His)
c.4267A>C (p.Asn1423His)
c.4228A>C (p.Asn1410His)
c.4177A>C (p.Asn1393His)
c.1309A>C (p.Asn437His)
18g.33744193A>GCA402190714ASXL3c.4348A>G (p.Asn1450Asp)
c.4345A>G (p.Asn1449Asp)
c.4225A>G (p.Asn1409Asp)
c.4321A>G (p.Asn1441Asp)
c.4267A>G (p.Asn1423Asp)
c.4228A>G (p.Asn1410Asp)
c.4177A>G (p.Asn1393Asp)
c.1309A>G (p.Asn437Asp)
 dbSNP gnomAD v4
18g.33744193A>TCA402190715ASXL3c.4348A>T (p.Asn1450Tyr)
c.4345A>T (p.Asn1449Tyr)
c.4225A>T (p.Asn1409Tyr)
c.4321A>T (p.Asn1441Tyr)
c.4267A>T (p.Asn1423Tyr)
c.4228A>T (p.Asn1410Tyr)
c.4177A>T (p.Asn1393Tyr)
c.1309A>T (p.Asn437Tyr)
 COSMIC
18g.33744194A=CA2294858037ASXL3c.4349A= (p.Asn1450=)
c.4346A= (p.Asn1449=)
c.4226A= (p.Asn1409=)
c.4322A= (p.Asn1441=)
c.4268A= (p.Asn1423=)
c.4229A= (p.Asn1410=)
c.4178A= (p.Asn1393=)
c.1310A= (p.Asn437=)
18g.33744194A>CCA402190716ASXL3c.4349A>C (p.Asn1450Thr)
c.4346A>C (p.Asn1449Thr)
c.4226A>C (p.Asn1409Thr)
c.4322A>C (p.Asn1441Thr)
c.4268A>C (p.Asn1423Thr)
c.4229A>C (p.Asn1410Thr)
c.4178A>C (p.Asn1393Thr)
c.1310A>C (p.Asn437Thr)
18g.33744194A>GCA402190717ASXL3c.4349A>G (p.Asn1450Ser)
c.4346A>G (p.Asn1449Ser)
c.4226A>G (p.Asn1409Ser)
c.4322A>G (p.Asn1441Ser)
c.4268A>G (p.Asn1423Ser)
c.4229A>G (p.Asn1410Ser)
c.4178A>G (p.Asn1393Ser)
c.1310A>G (p.Asn437Ser)
 dbSNP gnomAD v2 gnomAD v4
18g.33744194A>TCA402190718ASXL3c.4349A>T (p.Asn1450Ile)
c.4346A>T (p.Asn1449Ile)
c.4226A>T (p.Asn1409Ile)
c.4322A>T (p.Asn1441Ile)
c.4268A>T (p.Asn1423Ile)
c.4229A>T (p.Asn1410Ile)
c.4178A>T (p.Asn1393Ile)
c.1310A>T (p.Asn437Ile)
18g.33744195T>ACA402190719ASXL3c.4350T>A (p.Asn1450Lys)
c.4347T>A (p.Asn1449Lys)
c.4227T>A (p.Asn1409Lys)
c.4323T>A (p.Asn1441Lys)
c.4269T>A (p.Asn1423Lys)
c.4230T>A (p.Asn1410Lys)
c.4179T>A (p.Asn1393Lys)
c.1311T>A (p.Asn437Lys)
18g.33744195T>CCA503770593ASXL3c.4350T>C (p.Asn1450=)
c.4347T>C (p.Asn1449=)
c.4227T>C (p.Asn1409=)
c.4323T>C (p.Asn1441=)
c.4269T>C (p.Asn1423=)
c.4230T>C (p.Asn1410=)
c.4179T>C (p.Asn1393=)
c.1311T>C (p.Asn437=)
 gnomAD v4
18g.33744195T>GCA8934244ASXL3c.4350T>G (p.Asn1450Lys)
c.4347T>G (p.Asn1449Lys)
c.4227T>G (p.Asn1409Lys)
c.4323T>G (p.Asn1441Lys)
c.4269T>G (p.Asn1423Lys)
c.4230T>G (p.Asn1410Lys)
c.4179T>G (p.Asn1393Lys)
c.1311T>G (p.Asn437Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744195T=CA2294858038ASXL3c.4350T= (p.Asn1450=)
c.4347T= (p.Asn1449=)
c.4227T= (p.Asn1409=)
c.4323T= (p.Asn1441=)
c.4269T= (p.Asn1423=)
c.4230T= (p.Asn1410=)
c.4179T= (p.Asn1393=)
c.1311T= (p.Asn437=)
18g.33744196T>ACA402190720ASXL3c.4351T>A (p.Ser1451Thr)
c.4348T>A (p.Ser1450Thr)
c.4228T>A (p.Ser1410Thr)
c.4324T>A (p.Ser1442Thr)
c.4270T>A (p.Ser1424Thr)
c.4231T>A (p.Ser1411Thr)
c.4180T>A (p.Ser1394Thr)
c.1312T>A (p.Ser438Thr)
18g.33744196T>CCA402190721ASXL3c.4351T>C (p.Ser1451Pro)
c.4348T>C (p.Ser1450Pro)
c.4228T>C (p.Ser1410Pro)
c.4324T>C (p.Ser1442Pro)
c.4270T>C (p.Ser1424Pro)
c.4231T>C (p.Ser1411Pro)
c.4180T>C (p.Ser1394Pro)
c.1312T>C (p.Ser438Pro)
 dbSNP gnomAD v2 gnomAD v4
18g.33744196T>GCA402190722ASXL3c.4351T>G (p.Ser1451Ala)
c.4348T>G (p.Ser1450Ala)
c.4228T>G (p.Ser1410Ala)
c.4324T>G (p.Ser1442Ala)
c.4270T>G (p.Ser1424Ala)
c.4231T>G (p.Ser1411Ala)
c.4180T>G (p.Ser1394Ala)
c.1312T>G (p.Ser438Ala)
 gnomAD v4
18g.33744196T=CA2294858039ASXL3c.4351T= (p.Ser1451=)
c.4348T= (p.Ser1450=)
c.4228T= (p.Ser1410=)
c.4324T= (p.Ser1442=)
c.4270T= (p.Ser1424=)
c.4231T= (p.Ser1411=)
c.4180T= (p.Ser1394=)
c.1312T= (p.Ser438=)
18g.33744197C>ACA402190723ASXL3c.4352C>A (p.Ser1451Tyr)
c.4349C>A (p.Ser1450Tyr)
c.4229C>A (p.Ser1410Tyr)
c.4325C>A (p.Ser1442Tyr)
c.4271C>A (p.Ser1424Tyr)
c.4232C>A (p.Ser1411Tyr)
c.4181C>A (p.Ser1394Tyr)
c.1313C>A (p.Ser438Tyr)
18g.33744197C=CA2294858040ASXL3c.4352C= (p.Ser1451=)
c.4349C= (p.Ser1450=)
c.4229C= (p.Ser1410=)
c.4325C= (p.Ser1442=)
c.4271C= (p.Ser1424=)
c.4232C= (p.Ser1411=)
c.4181C= (p.Ser1394=)
c.1313C= (p.Ser438=)
18g.33744197C>GCA402190724ASXL3c.4352C>G (p.Ser1451Cys)
c.4349C>G (p.Ser1450Cys)
c.4229C>G (p.Ser1410Cys)
c.4325C>G (p.Ser1442Cys)
c.4271C>G (p.Ser1424Cys)
c.4232C>G (p.Ser1411Cys)
c.4181C>G (p.Ser1394Cys)
c.1313C>G (p.Ser438Cys)
 dbSNP
18g.33744197C>TCA402190725ASXL3c.4352C>T (p.Ser1451Phe)
c.4349C>T (p.Ser1450Phe)
c.4229C>T (p.Ser1410Phe)
c.4325C>T (p.Ser1442Phe)
c.4271C>T (p.Ser1424Phe)
c.4232C>T (p.Ser1411Phe)
c.4181C>T (p.Ser1394Phe)
c.1313C>T (p.Ser438Phe)
18g.33744198T>ACA503770597ASXL3c.4353T>A (p.Ser1451=)
c.4350T>A (p.Ser1450=)
c.4230T>A (p.Ser1410=)
c.4326T>A (p.Ser1442=)
c.4272T>A (p.Ser1424=)
c.4233T>A (p.Ser1411=)
c.4182T>A (p.Ser1394=)
c.1314T>A (p.Ser438=)
18g.33744198T>CCA503770598ASXL3c.4353T>C (p.Ser1451=)
c.4350T>C (p.Ser1450=)
c.4230T>C (p.Ser1410=)
c.4326T>C (p.Ser1442=)
c.4272T>C (p.Ser1424=)
c.4233T>C (p.Ser1411=)
c.4182T>C (p.Ser1394=)
c.1314T>C (p.Ser438=)
18g.33744198T>GCA503770599ASXL3c.4353T>G (p.Ser1451=)
c.4350T>G (p.Ser1450=)
c.4230T>G (p.Ser1410=)
c.4326T>G (p.Ser1442=)
c.4272T>G (p.Ser1424=)
c.4233T>G (p.Ser1411=)
c.4182T>G (p.Ser1394=)
c.1314T>G (p.Ser438=)
18g.33744199G>ACA402190728ASXL3c.4354G>A (p.Gly1452Arg)
c.4351G>A (p.Gly1451Arg)
c.4231G>A (p.Gly1411Arg)
c.4327G>A (p.Gly1443Arg)
c.4273G>A (p.Gly1425Arg)
c.4234G>A (p.Gly1412Arg)
c.4183G>A (p.Gly1395Arg)
c.1315G>A (p.Gly439Arg)
18g.33744199G>CCA402190727ASXL3c.4354G>C (p.Gly1452Arg)
c.4351G>C (p.Gly1451Arg)
c.4231G>C (p.Gly1411Arg)
c.4327G>C (p.Gly1443Arg)
c.4273G>C (p.Gly1425Arg)
c.4234G>C (p.Gly1412Arg)
c.4183G>C (p.Gly1395Arg)
c.1315G>C (p.Gly439Arg)
18g.33744199G>TCA402190726ASXL3c.4354G>T (p.Gly1452Ter)
c.4351G>T (p.Gly1451Ter)
c.4231G>T (p.Gly1411Ter)
c.4327G>T (p.Gly1443Ter)
c.4273G>T (p.Gly1425Ter)
c.4234G>T (p.Gly1412Ter)
c.4183G>T (p.Gly1395Ter)
c.1315G>T (p.Gly439Ter)
18g.33744200G>ACA402190729ASXL3c.4355G>A (p.Gly1452Glu)
c.4352G>A (p.Gly1451Glu)
c.4232G>A (p.Gly1411Glu)
c.4328G>A (p.Gly1443Glu)
c.4274G>A (p.Gly1425Glu)
c.4235G>A (p.Gly1412Glu)
c.4184G>A (p.Gly1395Glu)
c.1316G>A (p.Gly439Glu)
18g.33744200G>CCA402190730ASXL3c.4355G>C (p.Gly1452Ala)
c.4352G>C (p.Gly1451Ala)
c.4232G>C (p.Gly1411Ala)
c.4328G>C (p.Gly1443Ala)
c.4274G>C (p.Gly1425Ala)
c.4235G>C (p.Gly1412Ala)
c.4184G>C (p.Gly1395Ala)
c.1316G>C (p.Gly439Ala)
18g.33744200G>TCA402190731ASXL3c.4355G>T (p.Gly1452Val)
c.4352G>T (p.Gly1451Val)
c.4232G>T (p.Gly1411Val)
c.4328G>T (p.Gly1443Val)
c.4274G>T (p.Gly1425Val)
c.4235G>T (p.Gly1412Val)
c.4184G>T (p.Gly1395Val)
c.1316G>T (p.Gly439Val)
18g.33744201A>CCA503770608ASXL3c.4356A>C (p.Gly1452=)
c.4353A>C (p.Gly1451=)
c.4233A>C (p.Gly1411=)
c.4329A>C (p.Gly1443=)
c.4275A>C (p.Gly1425=)
c.4236A>C (p.Gly1412=)
c.4185A>C (p.Gly1395=)
c.1317A>C (p.Gly439=)
18g.33744201A>GCA503770604ASXL3c.4356A>G (p.Gly1452=)
c.4353A>G (p.Gly1451=)
c.4233A>G (p.Gly1411=)
c.4329A>G (p.Gly1443=)
c.4275A>G (p.Gly1425=)
c.4236A>G (p.Gly1412=)
c.4185A>G (p.Gly1395=)
c.1317A>G (p.Gly439=)
18g.33744201A>TCA503770606ASXL3c.4356A>T (p.Gly1452=)
c.4353A>T (p.Gly1451=)
c.4233A>T (p.Gly1411=)
c.4329A>T (p.Gly1443=)
c.4275A>T (p.Gly1425=)
c.4236A>T (p.Gly1412=)
c.4185A>T (p.Gly1395=)
c.1317A>T (p.Gly439=)
18g.33744204delCA2580095668ASXL3c.4359del (p.Lys1453AsnfsTer14)
c.4356del (p.Lys1452AsnfsTer14)
c.4236del (p.Lys1412AsnfsTer14)
c.4332del (p.Lys1444AsnfsTer14)
c.4278del (p.Lys1426AsnfsTer14)
c.4239del (p.Lys1413AsnfsTer14)
c.4188del (p.Lys1396AsnfsTer14)
c.1320del (p.Lys440AsnfsTer14)
 ClinVar
18g.33744202A>CCA402190732ASXL3c.4357A>C (p.Lys1453Gln)
c.4354A>C (p.Lys1452Gln)
c.4234A>C (p.Lys1412Gln)
c.4330A>C (p.Lys1444Gln)
c.4276A>C (p.Lys1426Gln)
c.4237A>C (p.Lys1413Gln)
c.4186A>C (p.Lys1396Gln)
c.1318A>C (p.Lys440Gln)
18g.33744202A>GCA402190733ASXL3c.4357A>G (p.Lys1453Glu)
c.4354A>G (p.Lys1452Glu)
c.4234A>G (p.Lys1412Glu)
c.4330A>G (p.Lys1444Glu)
c.4276A>G (p.Lys1426Glu)
c.4237A>G (p.Lys1413Glu)
c.4186A>G (p.Lys1396Glu)
c.1318A>G (p.Lys440Glu)
18g.33744202A>TCA402190734ASXL3c.4357A>T (p.Lys1453Ter)
c.4354A>T (p.Lys1452Ter)
c.4234A>T (p.Lys1412Ter)
c.4330A>T (p.Lys1444Ter)
c.4276A>T (p.Lys1426Ter)
c.4237A>T (p.Lys1413Ter)
c.4186A>T (p.Lys1396Ter)
c.1318A>T (p.Lys440Ter)
18g.33744203A>CCA402190735ASXL3c.4358A>C (p.Lys1453Thr)
c.4355A>C (p.Lys1452Thr)
c.4235A>C (p.Lys1412Thr)
c.4331A>C (p.Lys1444Thr)
c.4277A>C (p.Lys1426Thr)
c.4238A>C (p.Lys1413Thr)
c.4187A>C (p.Lys1396Thr)
c.1319A>C (p.Lys440Thr)
 gnomAD v4
18g.33744203A>GCA402190737ASXL3c.4358A>G (p.Lys1453Arg)
c.4355A>G (p.Lys1452Arg)
c.4235A>G (p.Lys1412Arg)
c.4331A>G (p.Lys1444Arg)
c.4277A>G (p.Lys1426Arg)
c.4238A>G (p.Lys1413Arg)
c.4187A>G (p.Lys1396Arg)
c.1319A>G (p.Lys440Arg)
18g.33744203A>TCA402190736ASXL3c.4358A>T (p.Lys1453Ile)
c.4355A>T (p.Lys1452Ile)
c.4235A>T (p.Lys1412Ile)
c.4331A>T (p.Lys1444Ile)
c.4277A>T (p.Lys1426Ile)
c.4238A>T (p.Lys1413Ile)
c.4187A>T (p.Lys1396Ile)
c.1319A>T (p.Lys440Ile)
18g.33744204A>CCA402190738ASXL3c.4359A>C (p.Lys1453Asn)
c.4356A>C (p.Lys1452Asn)
c.4236A>C (p.Lys1412Asn)
c.4332A>C (p.Lys1444Asn)
c.4278A>C (p.Lys1426Asn)
c.4239A>C (p.Lys1413Asn)
c.4188A>C (p.Lys1396Asn)
c.1320A>C (p.Lys440Asn)
 gnomAD v4
18g.33744204A>GCA503770612ASXL3c.4359A>G (p.Lys1453=)
c.4356A>G (p.Lys1452=)
c.4236A>G (p.Lys1412=)
c.4332A>G (p.Lys1444=)
c.4278A>G (p.Lys1426=)
c.4239A>G (p.Lys1413=)
c.4188A>G (p.Lys1396=)
c.1320A>G (p.Lys440=)
18g.33744204A>TCA402190739ASXL3c.4359A>T (p.Lys1453Asn)
c.4356A>T (p.Lys1452Asn)
c.4236A>T (p.Lys1412Asn)
c.4332A>T (p.Lys1444Asn)
c.4278A>T (p.Lys1426Asn)
c.4239A>T (p.Lys1413Asn)
c.4188A>T (p.Lys1396Asn)
c.1320A>T (p.Lys440Asn)
18g.33744205C>ACA402190740ASXL3c.4360C>A (p.Pro1454Thr)
c.4357C>A (p.Pro1453Thr)
c.4237C>A (p.Pro1413Thr)
c.4333C>A (p.Pro1445Thr)
c.4279C>A (p.Pro1427Thr)
c.4240C>A (p.Pro1414Thr)
c.4189C>A (p.Pro1397Thr)
c.1321C>A (p.Pro441Thr)
18g.33744205C=CA2294858041ASXL3c.4360C= (p.Pro1454=)
c.4357C= (p.Pro1453=)
c.4237C= (p.Pro1413=)
c.4333C= (p.Pro1445=)
c.4279C= (p.Pro1427=)
c.4240C= (p.Pro1414=)
c.4189C= (p.Pro1397=)
c.1321C= (p.Pro441=)
18g.33744205C>GCA402190741ASXL3c.4360C>G (p.Pro1454Ala)
c.4357C>G (p.Pro1453Ala)
c.4237C>G (p.Pro1413Ala)
c.4333C>G (p.Pro1445Ala)
c.4279C>G (p.Pro1427Ala)
c.4240C>G (p.Pro1414Ala)
c.4189C>G (p.Pro1397Ala)
c.1321C>G (p.Pro441Ala)
18g.33744205C>TCA402190742ASXL3c.4360C>T (p.Pro1454Ser)
c.4357C>T (p.Pro1453Ser)
c.4237C>T (p.Pro1413Ser)
c.4333C>T (p.Pro1445Ser)
c.4279C>T (p.Pro1427Ser)
c.4240C>T (p.Pro1414Ser)
c.4189C>T (p.Pro1397Ser)
c.1321C>T (p.Pro441Ser)
 dbSNP gnomAD v2 gnomAD v4
18g.33744206C>ACA402190743ASXL3c.4361C>A (p.Pro1454His)
c.4358C>A (p.Pro1453His)
c.4238C>A (p.Pro1413His)
c.4334C>A (p.Pro1445His)
c.4280C>A (p.Pro1427His)
c.4241C>A (p.Pro1414His)
c.4190C>A (p.Pro1397His)
c.1322C>A (p.Pro441His)
18g.33744206C>GCA402190744ASXL3c.4361C>G (p.Pro1454Arg)
c.4358C>G (p.Pro1453Arg)
c.4238C>G (p.Pro1413Arg)
c.4334C>G (p.Pro1445Arg)
c.4280C>G (p.Pro1427Arg)
c.4241C>G (p.Pro1414Arg)
c.4190C>G (p.Pro1397Arg)
c.1322C>G (p.Pro441Arg)
18g.33744206C>TCA402190745ASXL3c.4361C>T (p.Pro1454Leu)
c.4358C>T (p.Pro1453Leu)
c.4238C>T (p.Pro1413Leu)
c.4334C>T (p.Pro1445Leu)
c.4280C>T (p.Pro1427Leu)
c.4241C>T (p.Pro1414Leu)
c.4190C>T (p.Pro1397Leu)
c.1322C>T (p.Pro441Leu)
18g.33744207T>ACA503770623ASXL3c.4362T>A (p.Pro1454=)
c.4359T>A (p.Pro1453=)
c.4239T>A (p.Pro1413=)
c.4335T>A (p.Pro1445=)
c.4281T>A (p.Pro1427=)
c.4242T>A (p.Pro1414=)
c.4191T>A (p.Pro1397=)
c.1323T>A (p.Pro441=)
18g.33744207T>CCA503770626ASXL3c.4362T>C (p.Pro1454=)
c.4359T>C (p.Pro1453=)
c.4239T>C (p.Pro1413=)
c.4335T>C (p.Pro1445=)
c.4281T>C (p.Pro1427=)
c.4242T>C (p.Pro1414=)
c.4191T>C (p.Pro1397=)
c.1323T>C (p.Pro441=)
18g.33744207T>GCA8934245ASXL3c.4362T>G (p.Pro1454=)
c.4359T>G (p.Pro1453=)
c.4239T>G (p.Pro1413=)
c.4335T>G (p.Pro1445=)
c.4281T>G (p.Pro1427=)
c.4242T>G (p.Pro1414=)
c.4191T>G (p.Pro1397=)
c.1323T>G (p.Pro441=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744207T=CA2294858042ASXL3c.4362T= (p.Pro1454=)
c.4359T= (p.Pro1453=)
c.4239T= (p.Pro1413=)
c.4335T= (p.Pro1445=)
c.4281T= (p.Pro1427=)
c.4242T= (p.Pro1414=)
c.4191T= (p.Pro1397=)
c.1323T= (p.Pro441=)
18g.33744208C>ACA402190746ASXL3c.4363C>A (p.Gln1455Lys)
c.4360C>A (p.Gln1454Lys)
c.4240C>A (p.Gln1414Lys)
c.4336C>A (p.Gln1446Lys)
c.4282C>A (p.Gln1428Lys)
c.4243C>A (p.Gln1415Lys)
c.4192C>A (p.Gln1398Lys)
c.1324C>A (p.Gln442Lys)
18g.33744208C=CA2294858043ASXL3c.4363C= (p.Gln1455=)
c.4360C= (p.Gln1454=)
c.4240C= (p.Gln1414=)
c.4336C= (p.Gln1446=)
c.4282C= (p.Gln1428=)
c.4243C= (p.Gln1415=)
c.4192C= (p.Gln1398=)
c.1324C= (p.Gln442=)
18g.33744208C>GCA402190747ASXL3c.4363C>G (p.Gln1455Glu)
c.4360C>G (p.Gln1454Glu)
c.4240C>G (p.Gln1414Glu)
c.4336C>G (p.Gln1446Glu)
c.4282C>G (p.Gln1428Glu)
c.4243C>G (p.Gln1415Glu)
c.4192C>G (p.Gln1398Glu)
c.1324C>G (p.Gln442Glu)
18g.33744208C>TCA16620687ASXL3c.4363C>T (p.Gln1455Ter)
c.4360C>T (p.Gln1454Ter)
c.4240C>T (p.Gln1414Ter)
c.4336C>T (p.Gln1446Ter)
c.4282C>T (p.Gln1428Ter)
c.4243C>T (p.Gln1415Ter)
c.4192C>T (p.Gln1398Ter)
c.1324C>T (p.Gln442Ter)
 ClinVar dbSNP
18g.33744209A>CCA402190749ASXL3c.4364A>C (p.Gln1455Pro)
c.4361A>C (p.Gln1454Pro)
c.4241A>C (p.Gln1414Pro)
c.4337A>C (p.Gln1446Pro)
c.4283A>C (p.Gln1428Pro)
c.4244A>C (p.Gln1415Pro)
c.4193A>C (p.Gln1398Pro)
c.1325A>C (p.Gln442Pro)
18g.33744209A>GCA402190750ASXL3c.4364A>G (p.Gln1455Arg)
c.4361A>G (p.Gln1454Arg)
c.4241A>G (p.Gln1414Arg)
c.4337A>G (p.Gln1446Arg)
c.4283A>G (p.Gln1428Arg)
c.4244A>G (p.Gln1415Arg)
c.4193A>G (p.Gln1398Arg)
c.1325A>G (p.Gln442Arg)
18g.33744209A>TCA402190748ASXL3c.4364A>T (p.Gln1455Leu)
c.4361A>T (p.Gln1454Leu)
c.4241A>T (p.Gln1414Leu)
c.4337A>T (p.Gln1446Leu)
c.4283A>T (p.Gln1428Leu)
c.4244A>T (p.Gln1415Leu)
c.4193A>T (p.Gln1398Leu)
c.1325A>T (p.Gln442Leu)
18g.33744210G>ACA503770630ASXL3c.4365G>A (p.Gln1455=)
c.4362G>A (p.Gln1454=)
c.4242G>A (p.Gln1414=)
c.4338G>A (p.Gln1446=)
c.4284G>A (p.Gln1428=)
c.4245G>A (p.Gln1415=)
c.4194G>A (p.Gln1398=)
c.1326G>A (p.Gln442=)
 gnomAD v4
18g.33744210G>CCA402190751ASXL3c.4365G>C (p.Gln1455His)
c.4362G>C (p.Gln1454His)
c.4242G>C (p.Gln1414His)
c.4338G>C (p.Gln1446His)
c.4284G>C (p.Gln1428His)
c.4245G>C (p.Gln1415His)
c.4194G>C (p.Gln1398His)
c.1326G>C (p.Gln442His)
18g.33744210G>TCA402190752ASXL3c.4365G>T (p.Gln1455His)
c.4362G>T (p.Gln1454His)
c.4242G>T (p.Gln1414His)
c.4338G>T (p.Gln1446His)
c.4284G>T (p.Gln1428His)
c.4245G>T (p.Gln1415His)
c.4194G>T (p.Gln1398His)
c.1326G>T (p.Gln442His)
18g.33744211C>ACA402190753ASXL3c.4366C>A (p.Gln1456Lys)
c.4363C>A (p.Gln1455Lys)
c.4243C>A (p.Gln1415Lys)
c.4339C>A (p.Gln1447Lys)
c.4285C>A (p.Gln1429Lys)
c.4246C>A (p.Gln1416Lys)
c.4195C>A (p.Gln1399Lys)
c.1327C>A (p.Gln443Lys)
18g.33744211C>GCA402190754ASXL3c.4366C>G (p.Gln1456Glu)
c.4363C>G (p.Gln1455Glu)
c.4243C>G (p.Gln1415Glu)
c.4339C>G (p.Gln1447Glu)
c.4285C>G (p.Gln1429Glu)
c.4246C>G (p.Gln1416Glu)
c.4195C>G (p.Gln1399Glu)
c.1327C>G (p.Gln443Glu)
18g.33744211C>TCA402190755ASXL3c.4366C>T (p.Gln1456Ter)
c.4363C>T (p.Gln1455Ter)
c.4243C>T (p.Gln1415Ter)
c.4339C>T (p.Gln1447Ter)
c.4285C>T (p.Gln1429Ter)
c.4246C>T (p.Gln1416Ter)
c.4195C>T (p.Gln1399Ter)
c.1327C>T (p.Gln443Ter)
18g.33744212A>CCA402190758ASXL3c.4367A>C (p.Gln1456Pro)
c.4364A>C (p.Gln1455Pro)
c.4244A>C (p.Gln1415Pro)
c.4340A>C (p.Gln1447Pro)
c.4286A>C (p.Gln1429Pro)
c.4247A>C (p.Gln1416Pro)
c.4196A>C (p.Gln1399Pro)
c.1328A>C (p.Gln443Pro)
18g.33744212A>GCA402190756ASXL3c.4367A>G (p.Gln1456Arg)
c.4364A>G (p.Gln1455Arg)
c.4244A>G (p.Gln1415Arg)
c.4340A>G (p.Gln1447Arg)
c.4286A>G (p.Gln1429Arg)
c.4247A>G (p.Gln1416Arg)
c.4196A>G (p.Gln1399Arg)
c.1328A>G (p.Gln443Arg)
18g.33744212A>TCA402190757ASXL3c.4367A>T (p.Gln1456Leu)
c.4364A>T (p.Gln1455Leu)
c.4244A>T (p.Gln1415Leu)
c.4340A>T (p.Gln1447Leu)
c.4286A>T (p.Gln1429Leu)
c.4247A>T (p.Gln1416Leu)
c.4196A>T (p.Gln1399Leu)
c.1328A>T (p.Gln443Leu)
18g.33744213A>CCA402190759ASXL3c.4368A>C (p.Gln1456His)
c.4365A>C (p.Gln1455His)
c.4245A>C (p.Gln1415His)
c.4341A>C (p.Gln1447His)
c.4287A>C (p.Gln1429His)
c.4248A>C (p.Gln1416His)
c.4197A>C (p.Gln1399His)
c.1329A>C (p.Gln443His)
18g.33744213A>GCA503770639ASXL3c.4368A>G (p.Gln1456=)
c.4365A>G (p.Gln1455=)
c.4245A>G (p.Gln1415=)
c.4341A>G (p.Gln1447=)
c.4287A>G (p.Gln1429=)
c.4248A>G (p.Gln1416=)
c.4197A>G (p.Gln1399=)
c.1329A>G (p.Gln443=)
18g.33744213A>TCA402190760ASXL3c.4368A>T (p.Gln1456His)
c.4365A>T (p.Gln1455His)
c.4245A>T (p.Gln1415His)
c.4341A>T (p.Gln1447His)
c.4287A>T (p.Gln1429His)
c.4248A>T (p.Gln1416His)
c.4197A>T (p.Gln1399His)
c.1329A>T (p.Gln443His)
18g.33744214C>ACA402190761ASXL3c.4369C>A (p.Pro1457Thr)
c.4366C>A (p.Pro1456Thr)
c.4246C>A (p.Pro1416Thr)
c.4342C>A (p.Pro1448Thr)
c.4288C>A (p.Pro1430Thr)
c.4249C>A (p.Pro1417Thr)
c.4198C>A (p.Pro1400Thr)
c.1330C>A (p.Pro444Thr)
18g.33744214C=CA2294858044ASXL3c.4369C= (p.Pro1457=)
c.4366C= (p.Pro1456=)
c.4246C= (p.Pro1416=)
c.4342C= (p.Pro1448=)
c.4288C= (p.Pro1430=)
c.4249C= (p.Pro1417=)
c.4198C= (p.Pro1400=)
c.1330C= (p.Pro444=)
18g.33744214C>GCA8934246ASXL3c.4369C>G (p.Pro1457Ala)
c.4366C>G (p.Pro1456Ala)
c.4246C>G (p.Pro1416Ala)
c.4342C>G (p.Pro1448Ala)
c.4288C>G (p.Pro1430Ala)
c.4249C>G (p.Pro1417Ala)
c.4198C>G (p.Pro1400Ala)
c.1330C>G (p.Pro444Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744214C>TCA402190762ASXL3c.4369C>T (p.Pro1457Ser)
c.4366C>T (p.Pro1456Ser)
c.4246C>T (p.Pro1416Ser)
c.4342C>T (p.Pro1448Ser)
c.4288C>T (p.Pro1430Ser)
c.4249C>T (p.Pro1417Ser)
c.4198C>T (p.Pro1400Ser)
c.1330C>T (p.Pro444Ser)
18g.33744214_33744229delinsCCACCAGGGGGCTTTGCA2294858045ASXL3c.4369_4384delinsCCACCAGGGGGCTTTG (p.Pro1457=)
c.4366_4381delinsCCACCAGGGGGCTTTG (p.Pro1456=)
c.4246_4261delinsCCACCAGGGGGCTTTG (p.Pro1416=)
c.4342_4357delinsCCACCAGGGGGCTTTG (p.Pro1448=)
c.4288_4303delinsCCACCAGGGGGCTTTG (p.Pro1430=)
c.4249_4264delinsCCACCAGGGGGCTTTG (p.Pro1417=)
c.4198_4213delinsCCACCAGGGGGCTTTG (p.Pro1400=)
c.1330_1345delinsCCACCAGGGGGCTTTG (p.Pro444=)
18g.33744215C>ACA402190763ASXL3c.4370C>A (p.Pro1457Gln)
c.4367C>A (p.Pro1456Gln)
c.4247C>A (p.Pro1416Gln)
c.4343C>A (p.Pro1448Gln)
c.4289C>A (p.Pro1430Gln)
c.4250C>A (p.Pro1417Gln)
c.4199C>A (p.Pro1400Gln)
c.1331C>A (p.Pro444Gln)
18g.33744215C>GCA402190764ASXL3c.4370C>G (p.Pro1457Arg)
c.4367C>G (p.Pro1456Arg)
c.4247C>G (p.Pro1416Arg)
c.4343C>G (p.Pro1448Arg)
c.4289C>G (p.Pro1430Arg)
c.4250C>G (p.Pro1417Arg)
c.4199C>G (p.Pro1400Arg)
c.1331C>G (p.Pro444Arg)
18g.33744215C>TCA402190765ASXL3c.4370C>T (p.Pro1457Leu)
c.4367C>T (p.Pro1456Leu)
c.4247C>T (p.Pro1416Leu)
c.4343C>T (p.Pro1448Leu)
c.4289C>T (p.Pro1430Leu)
c.4250C>T (p.Pro1417Leu)
c.4199C>T (p.Pro1400Leu)
c.1331C>T (p.Pro444Leu)
 ClinVar dbSNP gnomAD v4
18g.33744221_33744235delCA8934247ASXL3c.4376_4390del (p.Gly1459_Pro1463del)
c.4373_4387del (p.Gly1458_Pro1462del)
c.4253_4267del (p.Gly1418_Pro1422del)
c.4349_4363del (p.Gly1450_Pro1454del)
c.4295_4309del (p.Gly1432_Pro1436del)
c.4256_4270del (p.Gly1419_Pro1423del)
c.4205_4219del (p.Gly1402_Pro1406del)
c.1337_1351del (p.Gly446_Pro450del)
 dbSNP ExAC gnomAD v4
18g.33744216A>CCA503770068ASXL3c.4371A>C (p.Pro1457=)
c.4368A>C (p.Pro1456=)
c.4248A>C (p.Pro1416=)
c.4344A>C (p.Pro1448=)
c.4290A>C (p.Pro1430=)
c.4251A>C (p.Pro1417=)
c.4200A>C (p.Pro1400=)
c.1332A>C (p.Pro444=)
18g.33744216A>GCA503770097ASXL3c.4371A>G (p.Pro1457=)
c.4368A>G (p.Pro1456=)
c.4248A>G (p.Pro1416=)
c.4344A>G (p.Pro1448=)
c.4290A>G (p.Pro1430=)
c.4251A>G (p.Pro1417=)
c.4200A>G (p.Pro1400=)
c.1332A>G (p.Pro444=)
18g.33744216A>TCA503770064ASXL3c.4371A>T (p.Pro1457=)
c.4368A>T (p.Pro1456=)
c.4248A>T (p.Pro1416=)
c.4344A>T (p.Pro1448=)
c.4290A>T (p.Pro1430=)
c.4251A>T (p.Pro1417=)
c.4200A>T (p.Pro1400=)
c.1332A>T (p.Pro444=)
18g.33744217C>ACA402190768ASXL3c.4372C>A (p.Pro1458Thr)
c.4369C>A (p.Pro1457Thr)
c.4249C>A (p.Pro1417Thr)
c.4345C>A (p.Pro1449Thr)
c.4291C>A (p.Pro1431Thr)
c.4252C>A (p.Pro1418Thr)
c.4201C>A (p.Pro1401Thr)
c.1333C>A (p.Pro445Thr)
18g.33744217C>GCA402190766ASXL3c.4372C>G (p.Pro1458Ala)
c.4369C>G (p.Pro1457Ala)
c.4249C>G (p.Pro1417Ala)
c.4345C>G (p.Pro1449Ala)
c.4291C>G (p.Pro1431Ala)
c.4252C>G (p.Pro1418Ala)
c.4201C>G (p.Pro1401Ala)
c.1333C>G (p.Pro445Ala)
 gnomAD v4
18g.33744217C>TCA402190767ASXL3c.4372C>T (p.Pro1458Ser)
c.4369C>T (p.Pro1457Ser)
c.4249C>T (p.Pro1417Ser)
c.4345C>T (p.Pro1449Ser)
c.4291C>T (p.Pro1431Ser)
c.4252C>T (p.Pro1418Ser)
c.4201C>T (p.Pro1401Ser)
c.1333C>T (p.Pro445Ser)
18g.33744218C>ACA402190769ASXL3c.4373C>A (p.Pro1458Gln)
c.4370C>A (p.Pro1457Gln)
c.4250C>A (p.Pro1417Gln)
c.4346C>A (p.Pro1449Gln)
c.4292C>A (p.Pro1431Gln)
c.4253C>A (p.Pro1418Gln)
c.4202C>A (p.Pro1401Gln)
c.1334C>A (p.Pro445Gln)
18g.33744218C=CA2294858046ASXL3c.4373C= (p.Pro1458=)
c.4370C= (p.Pro1457=)
c.4250C= (p.Pro1417=)
c.4346C= (p.Pro1449=)
c.4292C= (p.Pro1431=)
c.4253C= (p.Pro1418=)
c.4202C= (p.Pro1401=)
c.1334C= (p.Pro445=)
18g.33744218C>GCA402190770ASXL3c.4373C>G (p.Pro1458Arg)
c.4370C>G (p.Pro1457Arg)
c.4250C>G (p.Pro1417Arg)
c.4346C>G (p.Pro1449Arg)
c.4292C>G (p.Pro1431Arg)
c.4253C>G (p.Pro1418Arg)
c.4202C>G (p.Pro1401Arg)
c.1334C>G (p.Pro445Arg)
 dbSNP
18g.33744218C>TCA402190771ASXL3c.4373C>T (p.Pro1458Leu)
c.4370C>T (p.Pro1457Leu)
c.4250C>T (p.Pro1417Leu)
c.4346C>T (p.Pro1449Leu)
c.4292C>T (p.Pro1431Leu)
c.4253C>T (p.Pro1418Leu)
c.4202C>T (p.Pro1401Leu)
c.1334C>T (p.Pro445Leu)
18g.33744219A>CCA503770102ASXL3c.4374A>C (p.Pro1458=)
c.4371A>C (p.Pro1457=)
c.4251A>C (p.Pro1417=)
c.4347A>C (p.Pro1449=)
c.4293A>C (p.Pro1431=)
c.4254A>C (p.Pro1418=)
c.4203A>C (p.Pro1401=)
c.1335A>C (p.Pro445=)
18g.33744219A>GCA503770103ASXL3c.4374A>G (p.Pro1458=)
c.4371A>G (p.Pro1457=)
c.4251A>G (p.Pro1417=)
c.4347A>G (p.Pro1449=)
c.4293A>G (p.Pro1431=)
c.4254A>G (p.Pro1418=)
c.4203A>G (p.Pro1401=)
c.1335A>G (p.Pro445=)
18g.33744219A>TCA503770104ASXL3c.4374A>T (p.Pro1458=)
c.4371A>T (p.Pro1457=)
c.4251A>T (p.Pro1417=)
c.4347A>T (p.Pro1449=)
c.4293A>T (p.Pro1431=)
c.4254A>T (p.Pro1418=)
c.4203A>T (p.Pro1401=)
c.1335A>T (p.Pro445=)
18g.33744219_33744220delinsAGCA2294858047ASXL3c.4374_4375delinsAG (p.Pro1458=)
c.4371_4372delinsAG (p.Pro1457=)
c.4251_4252delinsAG (p.Pro1417=)
c.4347_4348delinsAG (p.Pro1449=)
c.4293_4294delinsAG (p.Pro1431=)
c.4254_4255delinsAG (p.Pro1418=)
c.4203_4204delinsAG (p.Pro1401=)
c.1335_1336delinsAG (p.Pro445=)
18g.33744220G>ACA402190772ASXL3c.4375G>A (p.Gly1459Arg)
c.4372G>A (p.Gly1458Arg)
c.4252G>A (p.Gly1418Arg)
c.4348G>A (p.Gly1450Arg)
c.4294G>A (p.Gly1432Arg)
c.4255G>A (p.Gly1419Arg)
c.4204G>A (p.Gly1402Arg)
c.1336G>A (p.Gly446Arg)
 COSMIC
18g.33744220G>CCA402190773ASXL3c.4375G>C (p.Gly1459Arg)
c.4372G>C (p.Gly1458Arg)
c.4252G>C (p.Gly1418Arg)
c.4348G>C (p.Gly1450Arg)
c.4294G>C (p.Gly1432Arg)
c.4255G>C (p.Gly1419Arg)
c.4204G>C (p.Gly1402Arg)
c.1336G>C (p.Gly446Arg)
18g.33744220G>TCA402190774ASXL3c.4375G>T (p.Gly1459Trp)
c.4372G>T (p.Gly1458Trp)
c.4252G>T (p.Gly1418Trp)
c.4348G>T (p.Gly1450Trp)
c.4294G>T (p.Gly1432Trp)
c.4255G>T (p.Gly1419Trp)
c.4204G>T (p.Gly1402Trp)
c.1336G>T (p.Gly446Trp)
18g.33744224delCA915952508ASXL3c.4379del (p.Gly1460AlafsTer7)
c.4376del (p.Gly1459AlafsTer7)
c.4256del (p.Gly1419AlafsTer7)
c.4352del (p.Gly1451AlafsTer7)
c.4298del (p.Gly1433AlafsTer7)
c.4259del (p.Gly1420AlafsTer7)
c.4208del (p.Gly1403AlafsTer7)
c.1340del (p.Gly447AlafsTer7)
 ClinVar dbSNP
18g.33744221G>ACA402190775ASXL3c.4376G>A (p.Gly1459Glu)
c.4373G>A (p.Gly1458Glu)
c.4253G>A (p.Gly1418Glu)
c.4349G>A (p.Gly1450Glu)
c.4295G>A (p.Gly1432Glu)
c.4256G>A (p.Gly1419Glu)
c.4205G>A (p.Gly1402Glu)
c.1337G>A (p.Gly446Glu)
18g.33744221G>CCA402190776ASXL3c.4376G>C (p.Gly1459Ala)
c.4373G>C (p.Gly1458Ala)
c.4253G>C (p.Gly1418Ala)
c.4349G>C (p.Gly1450Ala)
c.4295G>C (p.Gly1432Ala)
c.4256G>C (p.Gly1419Ala)
c.4205G>C (p.Gly1402Ala)
c.1337G>C (p.Gly446Ala)
18g.33744221G>TCA402190777ASXL3c.4376G>T (p.Gly1459Val)
c.4373G>T (p.Gly1458Val)
c.4253G>T (p.Gly1418Val)
c.4349G>T (p.Gly1450Val)
c.4295G>T (p.Gly1432Val)
c.4256G>T (p.Gly1419Val)
c.4205G>T (p.Gly1402Val)
c.1337G>T (p.Gly446Val)
18g.33744222G>ACA503770115ASXL3c.4377G>A (p.Gly1459=)
c.4374G>A (p.Gly1458=)
c.4254G>A (p.Gly1418=)
c.4350G>A (p.Gly1450=)
c.4296G>A (p.Gly1432=)
c.4257G>A (p.Gly1419=)
c.4206G>A (p.Gly1402=)
c.1338G>A (p.Gly446=)
 dbSNP gnomAD v4
18g.33744222G>CCA503770120ASXL3c.4377G>C (p.Gly1459=)
c.4374G>C (p.Gly1458=)
c.4254G>C (p.Gly1418=)
c.4350G>C (p.Gly1450=)
c.4296G>C (p.Gly1432=)
c.4257G>C (p.Gly1419=)
c.4206G>C (p.Gly1402=)
c.1338G>C (p.Gly446=)
18g.33744222G>TCA503770122ASXL3c.4377G>T (p.Gly1459=)
c.4374G>T (p.Gly1458=)
c.4254G>T (p.Gly1418=)
c.4350G>T (p.Gly1450=)
c.4296G>T (p.Gly1432=)
c.4257G>T (p.Gly1419=)
c.4206G>T (p.Gly1402=)
c.1338G>T (p.Gly446=)
18g.33744223G>ACA402190780ASXL3c.4378G>A (p.Gly1460Ser)
c.4375G>A (p.Gly1459Ser)
c.4255G>A (p.Gly1419Ser)
c.4351G>A (p.Gly1451Ser)
c.4297G>A (p.Gly1433Ser)
c.4258G>A (p.Gly1420Ser)
c.4207G>A (p.Gly1403Ser)
c.1339G>A (p.Gly447Ser)
 dbSNP gnomAD v2 gnomAD v4
18g.33744223G>CCA402190779ASXL3c.4378G>C (p.Gly1460Arg)
c.4375G>C (p.Gly1459Arg)
c.4255G>C (p.Gly1419Arg)
c.4351G>C (p.Gly1451Arg)
c.4297G>C (p.Gly1433Arg)
c.4258G>C (p.Gly1420Arg)
c.4207G>C (p.Gly1403Arg)
c.1339G>C (p.Gly447Arg)
 dbSNP gnomAD v2 gnomAD v4
18g.33744223G=CA2294858048ASXL3c.4378G= (p.Gly1460=)
c.4375G= (p.Gly1459=)
c.4255G= (p.Gly1419=)
c.4351G= (p.Gly1451=)
c.4297G= (p.Gly1433=)
c.4258G= (p.Gly1420=)
c.4207G= (p.Gly1403=)
c.1339G= (p.Gly447=)
18g.33744223G>TCA402190778ASXL3c.4378G>T (p.Gly1460Cys)
c.4375G>T (p.Gly1459Cys)
c.4255G>T (p.Gly1419Cys)
c.4351G>T (p.Gly1451Cys)
c.4297G>T (p.Gly1433Cys)
c.4258G>T (p.Gly1420Cys)
c.4207G>T (p.Gly1403Cys)
c.1339G>T (p.Gly447Cys)
 gnomAD v4 COSMIC
18g.33744224G>ACA402190781ASXL3c.4379G>A (p.Gly1460Asp)
c.4376G>A (p.Gly1459Asp)
c.4256G>A (p.Gly1419Asp)
c.4352G>A (p.Gly1451Asp)
c.4298G>A (p.Gly1433Asp)
c.4259G>A (p.Gly1420Asp)
c.4208G>A (p.Gly1403Asp)
c.1340G>A (p.Gly447Asp)
 gnomAD v4
18g.33744224G>CCA8934248ASXL3c.4379G>C (p.Gly1460Ala)
c.4376G>C (p.Gly1459Ala)
c.4256G>C (p.Gly1419Ala)
c.4352G>C (p.Gly1451Ala)
c.4298G>C (p.Gly1433Ala)
c.4259G>C (p.Gly1420Ala)
c.4208G>C (p.Gly1403Ala)
c.1340G>C (p.Gly447Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744224G=CA2294858049ASXL3c.4379G= (p.Gly1460=)
c.4376G= (p.Gly1459=)
c.4256G= (p.Gly1419=)
c.4352G= (p.Gly1451=)
c.4298G= (p.Gly1433=)
c.4259G= (p.Gly1420=)
c.4208G= (p.Gly1403=)
c.1340G= (p.Gly447=)
18g.33744224G>TCA402190782ASXL3c.4379G>T (p.Gly1460Val)
c.4376G>T (p.Gly1459Val)
c.4256G>T (p.Gly1419Val)
c.4352G>T (p.Gly1451Val)
c.4298G>T (p.Gly1433Val)
c.4259G>T (p.Gly1420Val)
c.4208G>T (p.Gly1403Val)
c.1340G>T (p.Gly447Val)
 dbSNP gnomAD v4
18g.33744225delCA2695227405ASXL3c.4380del (p.Phe1461LeufsTer6)
c.4377del (p.Phe1460LeufsTer6)
c.4257del (p.Phe1420LeufsTer6)
c.4353del (p.Phe1452LeufsTer6)
c.4299del (p.Phe1434LeufsTer6)
c.4260del (p.Phe1421LeufsTer6)
c.4209del (p.Phe1404LeufsTer6)
c.1341del (p.Phe448LeufsTer6)
18g.33744225C>ACA503770128ASXL3c.4380C>A (p.Gly1460=)
c.4377C>A (p.Gly1459=)
c.4257C>A (p.Gly1419=)
c.4353C>A (p.Gly1451=)
c.4299C>A (p.Gly1433=)
c.4260C>A (p.Gly1420=)
c.4209C>A (p.Gly1403=)
c.1341C>A (p.Gly447=)
18g.33744225C=CA2294858050ASXL3c.4380C= (p.Gly1460=)
c.4377C= (p.Gly1459=)
c.4257C= (p.Gly1419=)
c.4353C= (p.Gly1451=)
c.4299C= (p.Gly1433=)
c.4260C= (p.Gly1420=)
c.4209C= (p.Gly1403=)
c.1341C= (p.Gly447=)
18g.33744225C>GCA503770131ASXL3c.4380C>G (p.Gly1460=)
c.4377C>G (p.Gly1459=)
c.4257C>G (p.Gly1419=)
c.4353C>G (p.Gly1451=)
c.4299C>G (p.Gly1433=)
c.4260C>G (p.Gly1420=)
c.4209C>G (p.Gly1403=)
c.1341C>G (p.Gly447=)
18g.33744225C>TCA8934249ASXL3c.4380C>T (p.Gly1460=)
c.4377C>T (p.Gly1459=)
c.4257C>T (p.Gly1419=)
c.4353C>T (p.Gly1451=)
c.4299C>T (p.Gly1433=)
c.4260C>T (p.Gly1420=)
c.4209C>T (p.Gly1403=)
c.1341C>T (p.Gly447=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744226T>ACA402190783ASXL3c.4381T>A (p.Phe1461Ile)
c.4378T>A (p.Phe1460Ile)
c.4258T>A (p.Phe1420Ile)
c.4354T>A (p.Phe1452Ile)
c.4300T>A (p.Phe1434Ile)
c.4261T>A (p.Phe1421Ile)
c.4210T>A (p.Phe1404Ile)
c.1342T>A (p.Phe448Ile)
18g.33744226T>CCA402190784ASXL3c.4381T>C (p.Phe1461Leu)
c.4378T>C (p.Phe1460Leu)
c.4258T>C (p.Phe1420Leu)
c.4354T>C (p.Phe1452Leu)
c.4300T>C (p.Phe1434Leu)
c.4261T>C (p.Phe1421Leu)
c.4210T>C (p.Phe1404Leu)
c.1342T>C (p.Phe448Leu)
18g.33744226T>GCA402190785ASXL3c.4381T>G (p.Phe1461Val)
c.4378T>G (p.Phe1460Val)
c.4258T>G (p.Phe1420Val)
c.4354T>G (p.Phe1452Val)
c.4300T>G (p.Phe1434Val)
c.4261T>G (p.Phe1421Val)
c.4210T>G (p.Phe1404Val)
c.1342T>G (p.Phe448Val)
18g.33744227T>ACA402190786ASXL3c.4382T>A (p.Phe1461Tyr)
c.4379T>A (p.Phe1460Tyr)
c.4259T>A (p.Phe1420Tyr)
c.4355T>A (p.Phe1452Tyr)
c.4301T>A (p.Phe1434Tyr)
c.4262T>A (p.Phe1421Tyr)
c.4211T>A (p.Phe1404Tyr)
c.1343T>A (p.Phe448Tyr)
18g.33744227T>CCA402190787ASXL3c.4382T>C (p.Phe1461Ser)
c.4379T>C (p.Phe1460Ser)
c.4259T>C (p.Phe1420Ser)
c.4355T>C (p.Phe1452Ser)
c.4301T>C (p.Phe1434Ser)
c.4262T>C (p.Phe1421Ser)
c.4211T>C (p.Phe1404Ser)
c.1343T>C (p.Phe448Ser)
18g.33744227T>GCA402190788ASXL3c.4382T>G (p.Phe1461Cys)
c.4379T>G (p.Phe1460Cys)
c.4259T>G (p.Phe1420Cys)
c.4355T>G (p.Phe1452Cys)
c.4301T>G (p.Phe1434Cys)
c.4262T>G (p.Phe1421Cys)
c.4211T>G (p.Phe1404Cys)
c.1343T>G (p.Phe448Cys)
18g.33744228T>ACA402190789ASXL3c.4383T>A (p.Phe1461Leu)
c.4380T>A (p.Phe1460Leu)
c.4260T>A (p.Phe1420Leu)
c.4356T>A (p.Phe1452Leu)
c.4302T>A (p.Phe1434Leu)
c.4263T>A (p.Phe1421Leu)
c.4212T>A (p.Phe1404Leu)
c.1344T>A (p.Phe448Leu)
18g.33744228T>CCA503770149ASXL3c.4383T>C (p.Phe1461=)
c.4380T>C (p.Phe1460=)
c.4260T>C (p.Phe1420=)
c.4356T>C (p.Phe1452=)
c.4302T>C (p.Phe1434=)
c.4263T>C (p.Phe1421=)
c.4212T>C (p.Phe1404=)
c.1344T>C (p.Phe448=)
18g.33744228T>GCA402190790ASXL3c.4383T>G (p.Phe1461Leu)
c.4380T>G (p.Phe1460Leu)
c.4260T>G (p.Phe1420Leu)
c.4356T>G (p.Phe1452Leu)
c.4302T>G (p.Phe1434Leu)
c.4263T>G (p.Phe1421Leu)
c.4212T>G (p.Phe1404Leu)
c.1344T>G (p.Phe448Leu)
18g.33744229G>ACA402190792ASXL3c.4384G>A (p.Ala1462Thr)
c.4381G>A (p.Ala1461Thr)
c.4261G>A (p.Ala1421Thr)
c.4357G>A (p.Ala1453Thr)
c.4303G>A (p.Ala1435Thr)
c.4264G>A (p.Ala1422Thr)
c.4213G>A (p.Ala1405Thr)
c.1345G>A (p.Ala449Thr)
18g.33744229G>CCA402190793ASXL3c.4384G>C (p.Ala1462Pro)
c.4381G>C (p.Ala1461Pro)
c.4261G>C (p.Ala1421Pro)
c.4357G>C (p.Ala1453Pro)
c.4303G>C (p.Ala1435Pro)
c.4264G>C (p.Ala1422Pro)
c.4213G>C (p.Ala1405Pro)
c.1345G>C (p.Ala449Pro)
18g.33744229G>TCA402190791ASXL3c.4384G>T (p.Ala1462Ser)
c.4381G>T (p.Ala1461Ser)
c.4261G>T (p.Ala1421Ser)
c.4357G>T (p.Ala1453Ser)
c.4303G>T (p.Ala1435Ser)
c.4264G>T (p.Ala1422Ser)
c.4213G>T (p.Ala1405Ser)
c.1345G>T (p.Ala449Ser)
18g.33744230delCA2695227406ASXL3c.4385del (p.Ala1462AspfsTer5)
c.4382del (p.Ala1461AspfsTer5)
c.4262del (p.Ala1421AspfsTer5)
c.4358del (p.Ala1453AspfsTer5)
c.4304del (p.Ala1435AspfsTer5)
c.4265del (p.Ala1422AspfsTer5)
c.4214del (p.Ala1405AspfsTer5)
c.1346del (p.Ala449AspfsTer5)
18g.33744230C>ACA402190794ASXL3c.4385C>A (p.Ala1462Glu)
c.4382C>A (p.Ala1461Glu)
c.4262C>A (p.Ala1421Glu)
c.4358C>A (p.Ala1453Glu)
c.4304C>A (p.Ala1435Glu)
c.4265C>A (p.Ala1422Glu)
c.4214C>A (p.Ala1405Glu)
c.1346C>A (p.Ala449Glu)
 dbSNP gnomAD v2
18g.33744230C=CA2294858051ASXL3c.4385C= (p.Ala1462=)
c.4382C= (p.Ala1461=)
c.4262C= (p.Ala1421=)
c.4358C= (p.Ala1453=)
c.4304C= (p.Ala1435=)
c.4265C= (p.Ala1422=)
c.4214C= (p.Ala1405=)
c.1346C= (p.Ala449=)
18g.33744230C>GCA402190795ASXL3c.4385C>G (p.Ala1462Gly)
c.4382C>G (p.Ala1461Gly)
c.4262C>G (p.Ala1421Gly)
c.4358C>G (p.Ala1453Gly)
c.4304C>G (p.Ala1435Gly)
c.4265C>G (p.Ala1422Gly)
c.4214C>G (p.Ala1405Gly)
c.1346C>G (p.Ala449Gly)
18g.33744230C>TCA8934250ASXL3c.4385C>T (p.Ala1462Val)
c.4382C>T (p.Ala1461Val)
c.4262C>T (p.Ala1421Val)
c.4358C>T (p.Ala1453Val)
c.4304C>T (p.Ala1435Val)
c.4265C>T (p.Ala1422Val)
c.4214C>T (p.Ala1405Val)
c.1346C>T (p.Ala449Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744231A=CA2294858052ASXL3c.4386A= (p.Ala1462=)
c.4383A= (p.Ala1461=)
c.4263A= (p.Ala1421=)
c.4359A= (p.Ala1453=)
c.4305A= (p.Ala1435=)
c.4266A= (p.Ala1422=)
c.4215A= (p.Ala1405=)
c.1347A= (p.Ala449=)
18g.33744231A>CCA8934251ASXL3c.4386A>C (p.Ala1462=)
c.4383A>C (p.Ala1461=)
c.4263A>C (p.Ala1421=)
c.4359A>C (p.Ala1453=)
c.4305A>C (p.Ala1435=)
c.4266A>C (p.Ala1422=)
c.4215A>C (p.Ala1405=)
c.1347A>C (p.Ala449=)
 dbSNP ExAC gnomAD v4
18g.33744231A>GCA503770165ASXL3c.4386A>G (p.Ala1462=)
c.4383A>G (p.Ala1461=)
c.4263A>G (p.Ala1421=)
c.4359A>G (p.Ala1453=)
c.4305A>G (p.Ala1435=)
c.4266A>G (p.Ala1422=)
c.4215A>G (p.Ala1405=)
c.1347A>G (p.Ala449=)
 dbSNP gnomAD v3 gnomAD v4
18g.33744231A>TCA503770163ASXL3c.4386A>T (p.Ala1462=)
c.4383A>T (p.Ala1461=)
c.4263A>T (p.Ala1421=)
c.4359A>T (p.Ala1453=)
c.4305A>T (p.Ala1435=)
c.4266A>T (p.Ala1422=)
c.4215A>T (p.Ala1405=)
c.1347A>T (p.Ala449=)
18g.33744232C>ACA402190796ASXL3c.4387C>A (p.Pro1463Thr)
c.4384C>A (p.Pro1462Thr)
c.4264C>A (p.Pro1422Thr)
c.4360C>A (p.Pro1454Thr)
c.4306C>A (p.Pro1436Thr)
c.4267C>A (p.Pro1423Thr)
c.4216C>A (p.Pro1406Thr)
c.1348C>A (p.Pro450Thr)
 gnomAD v4
18g.33744232C=CA2294858053ASXL3c.4387C= (p.Pro1463=)
c.4384C= (p.Pro1462=)
c.4264C= (p.Pro1422=)
c.4360C= (p.Pro1454=)
c.4306C= (p.Pro1436=)
c.4267C= (p.Pro1423=)
c.4216C= (p.Pro1406=)
c.1348C= (p.Pro450=)
18g.33744232C>GCA8934253ASXL3c.4387C>G (p.Pro1463Ala)
c.4384C>G (p.Pro1462Ala)
c.4264C>G (p.Pro1422Ala)
c.4360C>G (p.Pro1454Ala)
c.4306C>G (p.Pro1436Ala)
c.4267C>G (p.Pro1423Ala)
c.4216C>G (p.Pro1406Ala)
c.1348C>G (p.Pro450Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744232C>TCA8934252ASXL3c.4387C>T (p.Pro1463Ser)
c.4384C>T (p.Pro1462Ser)
c.4264C>T (p.Pro1422Ser)
c.4360C>T (p.Pro1454Ser)
c.4306C>T (p.Pro1436Ser)
c.4267C>T (p.Pro1423Ser)
c.4216C>T (p.Pro1406Ser)
c.1348C>T (p.Pro450Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744233C>ACA8934254ASXL3c.4388C>A (p.Pro1463Gln)
c.4385C>A (p.Pro1462Gln)
c.4265C>A (p.Pro1422Gln)
c.4361C>A (p.Pro1454Gln)
c.4307C>A (p.Pro1436Gln)
c.4268C>A (p.Pro1423Gln)
c.4217C>A (p.Pro1406Gln)
c.1349C>A (p.Pro450Gln)
 dbSNP ExAC gnomAD v2
18g.33744233C=CA2294858054ASXL3c.4388C= (p.Pro1463=)
c.4385C= (p.Pro1462=)
c.4265C= (p.Pro1422=)
c.4361C= (p.Pro1454=)
c.4307C= (p.Pro1436=)
c.4268C= (p.Pro1423=)
c.4217C= (p.Pro1406=)
c.1349C= (p.Pro450=)
18g.33744233C>GCA402190797ASXL3c.4388C>G (p.Pro1463Arg)
c.4385C>G (p.Pro1462Arg)
c.4265C>G (p.Pro1422Arg)
c.4361C>G (p.Pro1454Arg)
c.4307C>G (p.Pro1436Arg)
c.4268C>G (p.Pro1423Arg)
c.4217C>G (p.Pro1406Arg)
c.1349C>G (p.Pro450Arg)
 dbSNP gnomAD v2 gnomAD v4
18g.33744233C>TCA402190798ASXL3c.4388C>T (p.Pro1463Leu)
c.4385C>T (p.Pro1462Leu)
c.4265C>T (p.Pro1422Leu)
c.4361C>T (p.Pro1454Leu)
c.4307C>T (p.Pro1436Leu)
c.4268C>T (p.Pro1423Leu)
c.4217C>T (p.Pro1406Leu)
c.1349C>T (p.Pro450Leu)
 gnomAD v4
18g.33744234A=CA2294858055ASXL3c.4389A= (p.Pro1463=)
c.4386A= (p.Pro1462=)
c.4266A= (p.Pro1422=)
c.4362A= (p.Pro1454=)
c.4308A= (p.Pro1436=)
c.4269A= (p.Pro1423=)
c.4218A= (p.Pro1406=)
c.1350A= (p.Pro450=)
18g.33744234A>CCA503770172ASXL3c.4389A>C (p.Pro1463=)
c.4386A>C (p.Pro1462=)
c.4266A>C (p.Pro1422=)
c.4362A>C (p.Pro1454=)
c.4308A>C (p.Pro1436=)
c.4269A>C (p.Pro1423=)
c.4218A>C (p.Pro1406=)
c.1350A>C (p.Pro450=)
18g.33744234A>GCA503770173ASXL3c.4389A>G (p.Pro1463=)
c.4386A>G (p.Pro1462=)
c.4266A>G (p.Pro1422=)
c.4362A>G (p.Pro1454=)
c.4308A>G (p.Pro1436=)
c.4269A>G (p.Pro1423=)
c.4218A>G (p.Pro1406=)
c.1350A>G (p.Pro450=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33744234A>TCA503770174ASXL3c.4389A>T (p.Pro1463=)
c.4386A>T (p.Pro1462=)
c.4266A>T (p.Pro1422=)
c.4362A>T (p.Pro1454=)
c.4308A>T (p.Pro1436=)
c.4269A>T (p.Pro1423=)
c.4218A>T (p.Pro1406=)
c.1350A>T (p.Pro450=)
18g.33744235G>ACA402190799ASXL3c.4390G>A (p.Ala1464Thr)
c.4387G>A (p.Ala1463Thr)
c.4267G>A (p.Ala1423Thr)
c.4363G>A (p.Ala1455Thr)
c.4309G>A (p.Ala1437Thr)
c.4270G>A (p.Ala1424Thr)
c.4219G>A (p.Ala1407Thr)
c.1351G>A (p.Ala451Thr)
 dbSNP gnomAD v2 gnomAD v4
18g.33744235G>CCA8934255ASXL3c.4390G>C (p.Ala1464Pro)
c.4387G>C (p.Ala1463Pro)
c.4267G>C (p.Ala1423Pro)
c.4363G>C (p.Ala1455Pro)
c.4309G>C (p.Ala1437Pro)
c.4270G>C (p.Ala1424Pro)
c.4219G>C (p.Ala1407Pro)
c.1351G>C (p.Ala451Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744235G=CA2294858056ASXL3c.4390G= (p.Ala1464=)
c.4387G= (p.Ala1463=)
c.4267G= (p.Ala1423=)
c.4363G= (p.Ala1455=)
c.4309G= (p.Ala1437=)
c.4270G= (p.Ala1424=)
c.4219G= (p.Ala1407=)
c.1351G= (p.Ala451=)
18g.33744235G>TCA402190800ASXL3c.4390G>T (p.Ala1464Ser)
c.4387G>T (p.Ala1463Ser)
c.4267G>T (p.Ala1423Ser)
c.4363G>T (p.Ala1455Ser)
c.4309G>T (p.Ala1437Ser)
c.4270G>T (p.Ala1424Ser)
c.4219G>T (p.Ala1407Ser)
c.1351G>T (p.Ala451Ser)
18g.33744236C>ACA402190803ASXL3c.4391C>A (p.Ala1464Glu)
c.4388C>A (p.Ala1463Glu)
c.4268C>A (p.Ala1423Glu)
c.4364C>A (p.Ala1455Glu)
c.4310C>A (p.Ala1437Glu)
c.4271C>A (p.Ala1424Glu)
c.4220C>A (p.Ala1407Glu)
c.1352C>A (p.Ala451Glu)
18g.33744236C>GCA402190802ASXL3c.4391C>G (p.Ala1464Gly)
c.4388C>G (p.Ala1463Gly)
c.4268C>G (p.Ala1423Gly)
c.4364C>G (p.Ala1455Gly)
c.4310C>G (p.Ala1437Gly)
c.4271C>G (p.Ala1424Gly)
c.4220C>G (p.Ala1407Gly)
c.1352C>G (p.Ala451Gly)
18g.33744236C>TCA402190801ASXL3c.4391C>T (p.Ala1464Val)
c.4388C>T (p.Ala1463Val)
c.4268C>T (p.Ala1423Val)
c.4364C>T (p.Ala1455Val)
c.4310C>T (p.Ala1437Val)
c.4271C>T (p.Ala1424Val)
c.4220C>T (p.Ala1407Val)
c.1352C>T (p.Ala451Val)
18g.33744237A>CCA503770182ASXL3c.4392A>C (p.Ala1464=)
c.4389A>C (p.Ala1463=)
c.4269A>C (p.Ala1423=)
c.4365A>C (p.Ala1455=)
c.4311A>C (p.Ala1437=)
c.4272A>C (p.Ala1424=)
c.4221A>C (p.Ala1407=)
c.1353A>C (p.Ala451=)
18g.33744237A>GCA503770184ASXL3c.4392A>G (p.Ala1464=)
c.4389A>G (p.Ala1463=)
c.4269A>G (p.Ala1423=)
c.4365A>G (p.Ala1455=)
c.4311A>G (p.Ala1437=)
c.4272A>G (p.Ala1424=)
c.4221A>G (p.Ala1407=)
c.1353A>G (p.Ala451=)
18g.33744237A>TCA503770187ASXL3c.4392A>T (p.Ala1464=)
c.4389A>T (p.Ala1463=)
c.4269A>T (p.Ala1423=)
c.4365A>T (p.Ala1455=)
c.4311A>T (p.Ala1437=)
c.4272A>T (p.Ala1424=)
c.4221A>T (p.Ala1407=)
c.1353A>T (p.Ala451=)
18g.33744238G>ACA402190804ASXL3c.4393G>A (p.Ala1465Thr)
c.4390G>A (p.Ala1464Thr)
c.4270G>A (p.Ala1424Thr)
c.4366G>A (p.Ala1456Thr)
c.4312G>A (p.Ala1438Thr)
c.4273G>A (p.Ala1425Thr)
c.4222G>A (p.Ala1408Thr)
c.1354G>A (p.Ala452Thr)
18g.33744238G>CCA402190805ASXL3c.4393G>C (p.Ala1465Pro)
c.4390G>C (p.Ala1464Pro)
c.4270G>C (p.Ala1424Pro)
c.4366G>C (p.Ala1456Pro)
c.4312G>C (p.Ala1438Pro)
c.4273G>C (p.Ala1425Pro)
c.4222G>C (p.Ala1408Pro)
c.1354G>C (p.Ala452Pro)
18g.33744238G>TCA402190806ASXL3c.4393G>T (p.Ala1465Ser)
c.4390G>T (p.Ala1464Ser)
c.4270G>T (p.Ala1424Ser)
c.4366G>T (p.Ala1456Ser)
c.4312G>T (p.Ala1438Ser)
c.4273G>T (p.Ala1425Ser)
c.4222G>T (p.Ala1408Ser)
c.1354G>T (p.Ala452Ser)
18g.33744239C>ACA402190807ASXL3c.4394C>A (p.Ala1465Asp)
c.4391C>A (p.Ala1464Asp)
c.4271C>A (p.Ala1424Asp)
c.4367C>A (p.Ala1456Asp)
c.4313C>A (p.Ala1438Asp)
c.4274C>A (p.Ala1425Asp)
c.4223C>A (p.Ala1408Asp)
c.1355C>A (p.Ala452Asp)
18g.33744239C>GCA402190808ASXL3c.4394C>G (p.Ala1465Gly)
c.4391C>G (p.Ala1464Gly)
c.4271C>G (p.Ala1424Gly)
c.4367C>G (p.Ala1456Gly)
c.4313C>G (p.Ala1438Gly)
c.4274C>G (p.Ala1425Gly)
c.4223C>G (p.Ala1408Gly)
c.1355C>G (p.Ala452Gly)
18g.33744239C>TCA402190809ASXL3c.4394C>T (p.Ala1465Val)
c.4391C>T (p.Ala1464Val)
c.4271C>T (p.Ala1424Val)
c.4367C>T (p.Ala1456Val)
c.4313C>T (p.Ala1438Val)
c.4274C>T (p.Ala1425Val)
c.4223C>T (p.Ala1408Val)
c.1355C>T (p.Ala452Val)
 gnomAD v4
18g.33744240C>ACA503770201ASXL3c.4395C>A (p.Ala1465=)
c.4392C>A (p.Ala1464=)
c.4272C>A (p.Ala1424=)
c.4368C>A (p.Ala1456=)
c.4314C>A (p.Ala1438=)
c.4275C>A (p.Ala1425=)
c.4224C>A (p.Ala1408=)
c.1356C>A (p.Ala452=)
18g.33744240C>GCA503770202ASXL3c.4395C>G (p.Ala1465=)
c.4392C>G (p.Ala1464=)
c.4272C>G (p.Ala1424=)
c.4368C>G (p.Ala1456=)
c.4314C>G (p.Ala1438=)
c.4275C>G (p.Ala1425=)
c.4224C>G (p.Ala1408=)
c.1356C>G (p.Ala452=)
18g.33744240C>TCA503770204ASXL3c.4395C>T (p.Ala1465=)
c.4392C>T (p.Ala1464=)
c.4272C>T (p.Ala1424=)
c.4368C>T (p.Ala1456=)
c.4314C>T (p.Ala1438=)
c.4275C>T (p.Ala1425=)
c.4224C>T (p.Ala1408=)
c.1356C>T (p.Ala452=)
18g.33744241A=CA2294858057ASXL3c.4396A= (p.Ile1466=)
c.4393A= (p.Ile1465=)
c.4273A= (p.Ile1425=)
c.4369A= (p.Ile1457=)
c.4315A= (p.Ile1439=)
c.4276A= (p.Ile1426=)
c.4225A= (p.Ile1409=)
c.1357A= (p.Ile453=)
18g.33744241A>CCA402190810ASXL3c.4396A>C (p.Ile1466Leu)
c.4393A>C (p.Ile1465Leu)
c.4273A>C (p.Ile1425Leu)
c.4369A>C (p.Ile1457Leu)
c.4315A>C (p.Ile1439Leu)
c.4276A>C (p.Ile1426Leu)
c.4225A>C (p.Ile1409Leu)
c.1357A>C (p.Ile453Leu)
18g.33744241A>GCA402190811ASXL3c.4396A>G (p.Ile1466Val)
c.4393A>G (p.Ile1465Val)
c.4273A>G (p.Ile1425Val)
c.4369A>G (p.Ile1457Val)
c.4315A>G (p.Ile1439Val)
c.4276A>G (p.Ile1426Val)
c.4225A>G (p.Ile1409Val)
c.1357A>G (p.Ile453Val)
 dbSNP gnomAD v3 gnomAD v4
18g.33744241A>TCA402190812ASXL3c.4396A>T (p.Ile1466Leu)
c.4393A>T (p.Ile1465Leu)
c.4273A>T (p.Ile1425Leu)
c.4369A>T (p.Ile1457Leu)
c.4315A>T (p.Ile1439Leu)
c.4276A>T (p.Ile1426Leu)
c.4225A>T (p.Ile1409Leu)
c.1357A>T (p.Ile453Leu)
18g.33744242T>ACA402190813ASXL3c.4397T>A (p.Ile1466Lys)
c.4394T>A (p.Ile1465Lys)
c.4274T>A (p.Ile1425Lys)
c.4370T>A (p.Ile1457Lys)
c.4316T>A (p.Ile1439Lys)
c.4277T>A (p.Ile1426Lys)
c.4226T>A (p.Ile1409Lys)
c.1358T>A (p.Ile453Lys)
18g.33744242T>CCA402190814ASXL3c.4397T>C (p.Ile1466Thr)
c.4394T>C (p.Ile1465Thr)
c.4274T>C (p.Ile1425Thr)
c.4370T>C (p.Ile1457Thr)
c.4316T>C (p.Ile1439Thr)
c.4277T>C (p.Ile1426Thr)
c.4226T>C (p.Ile1409Thr)
c.1358T>C (p.Ile453Thr)
18g.33744242T>GCA402190815ASXL3c.4397T>G (p.Ile1466Arg)
c.4394T>G (p.Ile1465Arg)
c.4274T>G (p.Ile1425Arg)
c.4370T>G (p.Ile1457Arg)
c.4316T>G (p.Ile1439Arg)
c.4277T>G (p.Ile1426Arg)
c.4226T>G (p.Ile1409Arg)
c.1358T>G (p.Ile453Arg)
18g.33744243A=CA2294858058ASXL3c.4398A= (p.Ile1466=)
c.4395A= (p.Ile1465=)
c.4275A= (p.Ile1425=)
c.4371A= (p.Ile1457=)
c.4317A= (p.Ile1439=)
c.4278A= (p.Ile1426=)
c.4227A= (p.Ile1409=)
c.1359A= (p.Ile453=)
18g.33744243A>CCA503770212ASXL3c.4398A>C (p.Ile1466=)
c.4395A>C (p.Ile1465=)
c.4275A>C (p.Ile1425=)
c.4371A>C (p.Ile1457=)
c.4317A>C (p.Ile1439=)
c.4278A>C (p.Ile1426=)
c.4227A>C (p.Ile1409=)
c.1359A>C (p.Ile453=)
18g.33744243A>GCA402190816ASXL3c.4398A>G (p.Ile1466Met)
c.4395A>G (p.Ile1465Met)
c.4275A>G (p.Ile1425Met)
c.4371A>G (p.Ile1457Met)
c.4317A>G (p.Ile1439Met)
c.4278A>G (p.Ile1426Met)
c.4227A>G (p.Ile1409Met)
c.1359A>G (p.Ile453Met)
 dbSNP gnomAD v4
18g.33744243A>TCA503770213ASXL3c.4398A>T (p.Ile1466=)
c.4395A>T (p.Ile1465=)
c.4275A>T (p.Ile1425=)
c.4371A>T (p.Ile1457=)
c.4317A>T (p.Ile1439=)
c.4278A>T (p.Ile1426=)
c.4227A>T (p.Ile1409=)
c.1359A>T (p.Ile453=)
18g.33744244A>CCA402190819ASXL3c.4399A>C (p.Asn1467His)
c.4396A>C (p.Asn1466His)
c.4276A>C (p.Asn1426His)
c.4372A>C (p.Asn1458His)
c.4318A>C (p.Asn1440His)
c.4279A>C (p.Asn1427His)
c.4228A>C (p.Asn1410His)
c.1360A>C (p.Asn454His)
18g.33744244A>GCA402190818ASXL3c.4399A>G (p.Asn1467Asp)
c.4396A>G (p.Asn1466Asp)
c.4276A>G (p.Asn1426Asp)
c.4372A>G (p.Asn1458Asp)
c.4318A>G (p.Asn1440Asp)
c.4279A>G (p.Asn1427Asp)
c.4228A>G (p.Asn1410Asp)
c.1360A>G (p.Asn454Asp)
18g.33744244A>TCA402190817ASXL3c.4399A>T (p.Asn1467Tyr)
c.4396A>T (p.Asn1466Tyr)
c.4276A>T (p.Asn1426Tyr)
c.4372A>T (p.Asn1458Tyr)
c.4318A>T (p.Asn1440Tyr)
c.4279A>T (p.Asn1427Tyr)
c.4228A>T (p.Asn1410Tyr)
c.1360A>T (p.Asn454Tyr)
18g.33744245A>CCA402190820ASXL3c.4400A>C (p.Asn1467Thr)
c.4397A>C (p.Asn1466Thr)
c.4277A>C (p.Asn1426Thr)
c.4373A>C (p.Asn1458Thr)
c.4319A>C (p.Asn1440Thr)
c.4280A>C (p.Asn1427Thr)
c.4229A>C (p.Asn1410Thr)
c.1361A>C (p.Asn454Thr)
18g.33744245A>GCA402190822ASXL3c.4400A>G (p.Asn1467Ser)
c.4397A>G (p.Asn1466Ser)
c.4277A>G (p.Asn1426Ser)
c.4373A>G (p.Asn1458Ser)
c.4319A>G (p.Asn1440Ser)
c.4280A>G (p.Asn1427Ser)
c.4229A>G (p.Asn1410Ser)
c.1361A>G (p.Asn454Ser)
18g.33744245A>TCA402190821ASXL3c.4400A>T (p.Asn1467Ile)
c.4397A>T (p.Asn1466Ile)
c.4277A>T (p.Asn1426Ile)
c.4373A>T (p.Asn1458Ile)
c.4319A>T (p.Asn1440Ile)
c.4280A>T (p.Asn1427Ile)
c.4229A>T (p.Asn1410Ile)
c.1361A>T (p.Asn454Ile)
18g.33744246C>ACA402190823ASXL3c.4401C>A (p.Asn1467Lys)
c.4398C>A (p.Asn1466Lys)
c.4278C>A (p.Asn1426Lys)
c.4374C>A (p.Asn1458Lys)
c.4320C>A (p.Asn1440Lys)
c.4281C>A (p.Asn1427Lys)
c.4230C>A (p.Asn1410Lys)
c.1362C>A (p.Asn454Lys)
18g.33744246C>GCA402190824ASXL3c.4401C>G (p.Asn1467Lys)
c.4398C>G (p.Asn1466Lys)
c.4278C>G (p.Asn1426Lys)
c.4374C>G (p.Asn1458Lys)
c.4320C>G (p.Asn1440Lys)
c.4281C>G (p.Asn1427Lys)
c.4230C>G (p.Asn1410Lys)
c.1362C>G (p.Asn454Lys)
18g.33744246C>TCA503770231ASXL3c.4401C>T (p.Asn1467=)
c.4398C>T (p.Asn1466=)
c.4278C>T (p.Asn1426=)
c.4374C>T (p.Asn1458=)
c.4320C>T (p.Asn1440=)
c.4281C>T (p.Asn1427=)
c.4230C>T (p.Asn1410=)
c.1362C>T (p.Asn454=)
18g.33744247C>ACA503770234ASXL3c.4402C>A (p.Arg1468=)
c.4399C>A (p.Arg1467=)
c.4279C>A (p.Arg1427=)
c.4375C>A (p.Arg1459=)
c.4321C>A (p.Arg1441=)
c.4282C>A (p.Arg1428=)
c.4231C>A (p.Arg1411=)
c.1363C>A (p.Arg455=)
 dbSNP
18g.33744247C=CA2294858059ASXL3c.4402C= (p.Arg1468=)
c.4399C= (p.Arg1467=)
c.4279C= (p.Arg1427=)
c.4375C= (p.Arg1459=)
c.4321C= (p.Arg1441=)
c.4282C= (p.Arg1428=)
c.4231C= (p.Arg1411=)
c.1363C= (p.Arg455=)
18g.33744247C>GCA402190825ASXL3c.4402C>G (p.Arg1468Gly)
c.4399C>G (p.Arg1467Gly)
c.4279C>G (p.Arg1427Gly)
c.4375C>G (p.Arg1459Gly)
c.4321C>G (p.Arg1441Gly)
c.4282C>G (p.Arg1428Gly)
c.4231C>G (p.Arg1411Gly)
c.1363C>G (p.Arg455Gly)
 dbSNP
18g.33744247C>TCA402190826ASXL3c.4402C>T (p.Arg1468Ter)
c.4399C>T (p.Arg1467Ter)
c.4279C>T (p.Arg1427Ter)
c.4375C>T (p.Arg1459Ter)
c.4321C>T (p.Arg1441Ter)
c.4282C>T (p.Arg1428Ter)
c.4231C>T (p.Arg1411Ter)
c.1363C>T (p.Arg455Ter)
 ClinVar dbSNP gnomAD v4
18g.33744248_33744251dupCA2695227407ASXL3c.4403_4406dup (p.Pro1471AsnfsTer4)
c.4400_4403dup (p.Pro1470AsnfsTer4)
c.4280_4283dup (p.Pro1430AsnfsTer4)
c.4376_4379dup (p.Pro1462AsnfsTer4)
c.4322_4325dup (p.Pro1444AsnfsTer4)
c.4283_4286dup (p.Pro1431AsnfsTer4)
c.4232_4235dup (p.Pro1414AsnfsTer4)
c.1364_1367dup (p.Pro458AsnfsTer4)
18g.33744248G>ACA8934256ASXL3c.4403G>A (p.Arg1468Gln)
c.4400G>A (p.Arg1467Gln)
c.4280G>A (p.Arg1427Gln)
c.4376G>A (p.Arg1459Gln)
c.4322G>A (p.Arg1441Gln)
c.4283G>A (p.Arg1428Gln)
c.4232G>A (p.Arg1411Gln)
c.1364G>A (p.Arg455Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.33744248G>CCA8934257ASXL3c.4403G>C (p.Arg1468Pro)
c.4400G>C (p.Arg1467Pro)
c.4280G>C (p.Arg1427Pro)
c.4376G>C (p.Arg1459Pro)
c.4322G>C (p.Arg1441Pro)
c.4283G>C (p.Arg1428Pro)
c.4232G>C (p.Arg1411Pro)
c.1364G>C (p.Arg455Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33744248G=CA2294858060ASXL3c.4403G= (p.Arg1468=)
c.4400G= (p.Arg1467=)
c.4280G= (p.Arg1427=)
c.4376G= (p.Arg1459=)
c.4322G= (p.Arg1441=)
c.4283G= (p.Arg1428=)
c.4232G= (p.Arg1411=)
c.1364G= (p.Arg455=)
18g.33744248G>TCA402190827ASXL3c.4403G>T (p.Arg1468Leu)
c.4400G>T (p.Arg1467Leu)
c.4280G>T (p.Arg1427Leu)
c.4376G>T (p.Arg1459Leu)
c.4322G>T (p.Arg1441Leu)
c.4283G>T (p.Arg1428Leu)
c.4232G>T (p.Arg1411Leu)
c.1364G>T (p.Arg455Leu)
18g.33744249A>CCA503770237ASXL3c.4404A>C (p.Arg1468=)
c.4401A>C (p.Arg1467=)
c.4281A>C (p.Arg1427=)
c.4377A>C (p.Arg1459=)
c.4323A>C (p.Arg1441=)
c.4284A>C (p.Arg1428=)
c.4233A>C (p.Arg1411=)
c.1365A>C (p.Arg455=)
18g.33744249A>GCA503770239ASXL3c.4404A>G (p.Arg1468=)
c.4401A>G (p.Arg1467=)
c.4281A>G (p.Arg1427=)
c.4377A>G (p.Arg1459=)
c.4323A>G (p.Arg1441=)
c.4284A>G (p.Arg1428=)
c.4233A>G (p.Arg1411=)
c.1365A>G (p.Arg455=)
 gnomAD v4
18g.33744249A>TCA503770240ASXL3c.4404A>T (p.Arg1468=)
c.4401A>T (p.Arg1467=)
c.4281A>T (p.Arg1427=)
c.4377A>T (p.Arg1459=)
c.4323A>T (p.Arg1441=)
c.4284A>T (p.Arg1428=)
c.4233A>T (p.Arg1411=)
c.1365A>T (p.Arg455=)
18g.33744250T>ACA402190828ASXL3c.4405T>A (p.Ser1469Thr)
c.4402T>A (p.Ser1468Thr)
c.4282T>A (p.Ser1428Thr)
c.4378T>A (p.Ser1460Thr)
c.4324T>A (p.Ser1442Thr)
c.4285T>A (p.Ser1429Thr)
c.4234T>A (p.Ser1412Thr)
c.1366T>A (p.Ser456Thr)
18g.33744250T>CCA402190829ASXL3c.4405T>C (p.Ser1469Pro)
c.4402T>C (p.Ser1468Pro)
c.4282T>C (p.Ser1428Pro)
c.4378T>C (p.Ser1460Pro)
c.4324T>C (p.Ser1442Pro)
c.4285T>C (p.Ser1429Pro)
c.4234T>C (p.Ser1412Pro)
c.1366T>C (p.Ser456Pro)
18g.33744250T>GCA402190830ASXL3c.4405T>G (p.Ser1469Ala)
c.4402T>G (p.Ser1468Ala)
c.4282T>G (p.Ser1428Ala)
c.4378T>G (p.Ser1460Ala)
c.4324T>G (p.Ser1442Ala)
c.4285T>G (p.Ser1429Ala)
c.4234T>G (p.Ser1412Ala)
c.1366T>G (p.Ser456Ala)
18g.33744251C>ACA402190831ASXL3c.4406C>A (p.Ser1469Ter)
c.4403C>A (p.Ser1468Ter)
c.4283C>A (p.Ser1428Ter)
c.4379C>A (p.Ser1460Ter)
c.4325C>A (p.Ser1442Ter)
c.4286C>A (p.Ser1429Ter)
c.4235C>A (p.Ser1412Ter)
c.1367C>A (p.Ser456Ter)
18g.33744251C>GCA402190832ASXL3c.4406C>G (p.Ser1469Ter)
c.4403C>G (p.Ser1468Ter)
c.4283C>G (p.Ser1428Ter)
c.4379C>G (p.Ser1460Ter)
c.4325C>G (p.Ser1442Ter)
c.4286C>G (p.Ser1429Ter)
c.4235C>G (p.Ser1412Ter)
c.1367C>G (p.Ser456Ter)
 ClinVar dbSNP
18g.33744251C>TCA402190833ASXL3c.4406C>T (p.Ser1469Leu)
c.4403C>T (p.Ser1468Leu)
c.4283C>T (p.Ser1428Leu)
c.4379C>T (p.Ser1460Leu)
c.4325C>T (p.Ser1442Leu)
c.4286C>T (p.Ser1429Leu)
c.4235C>T (p.Ser1412Leu)
c.1367C>T (p.Ser456Leu)
18g.33744252A>CCA503770241ASXL3c.4407A>C (p.Ser1469=)
c.4404A>C (p.Ser1468=)
c.4284A>C (p.Ser1428=)
c.4380A>C (p.Ser1460=)
c.4326A>C (p.Ser1442=)
c.4287A>C (p.Ser1429=)
c.4236A>C (p.Ser1412=)
c.1368A>C (p.Ser456=)
18g.33744252A>GCA503770244ASXL3c.4407A>G (p.Ser1469=)
c.4404A>G (p.Ser1468=)
c.4284A>G (p.Ser1428=)
c.4380A>G (p.Ser1460=)
c.4326A>G (p.Ser1442=)
c.4287A>G (p.Ser1429=)
c.4236A>G (p.Ser1412=)
c.1368A>G (p.Ser456=)
18g.33744252A>TCA503770250ASXL3c.4407A>T (p.Ser1469=)
c.4404A>T (p.Ser1468=)
c.4284A>T (p.Ser1428=)
c.4380A>T (p.Ser1460=)
c.4326A>T (p.Ser1442=)
c.4287A>T (p.Ser1429=)
c.4236A>T (p.Ser1412=)
c.1368A>T (p.Ser456=)
18g.33744253A=CA2294858061ASXL3c.4408A= (p.Ile1470=)
c.4405A= (p.Ile1469=)
c.4285A= (p.Ile1429=)
c.4381A= (p.Ile1461=)
c.4327A= (p.Ile1443=)
c.4288A= (p.Ile1430=)
c.4237A= (p.Ile1413=)
c.1369A= (p.Ile457=)
18g.33744253A>CCA402190834ASXL3c.4408A>C (p.Ile1470Leu)
c.4405A>C (p.Ile1469Leu)
c.4285A>C (p.Ile1429Leu)
c.4381A>C (p.Ile1461Leu)
c.4327A>C (p.Ile1443Leu)
c.4288A>C (p.Ile1430Leu)
c.4237A>C (p.Ile1413Leu)
c.1369A>C (p.Ile457Leu)
18g.33744253A>GCA402190835ASXL3c.4408A>G (p.Ile1470Val)
c.4405A>G (p.Ile1469Val)
c.4285A>G (p.Ile1429Val)
c.4381A>G (p.Ile1461Val)
c.4327A>G (p.Ile1443Val)
c.4288A>G (p.Ile1430Val)
c.4237A>G (p.Ile1413Val)
c.1369A>G (p.Ile457Val)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
18g.33744253A>TCA402190836ASXL3c.4408A>T (p.Ile1470Phe)
c.4405A>T (p.Ile1469Phe)
c.4285A>T (p.Ile1429Phe)
c.4381A>T (p.Ile1461Phe)
c.4327A>T (p.Ile1443Phe)
c.4288A>T (p.Ile1430Phe)
c.4237A>T (p.Ile1413Phe)
c.1369A>T (p.Ile457Phe)
18g.33744254T>ACA402190837ASXL3c.4409T>A (p.Ile1470Asn)
c.4406T>A (p.Ile1469Asn)
c.4286T>A (p.Ile1429Asn)
c.4382T>A (p.Ile1461Asn)
c.4328T>A (p.Ile1443Asn)
c.4289T>A (p.Ile1430Asn)
c.4238T>A (p.Ile1413Asn)
c.1370T>A (p.Ile457Asn)
18g.33744254T>CCA402190838ASXL3c.4409T>C (p.Ile1470Thr)
c.4406T>C (p.Ile1469Thr)
c.4286T>C (p.Ile1429Thr)
c.4382T>C (p.Ile1461Thr)
c.4328T>C (p.Ile1443Thr)
c.4289T>C (p.Ile1430Thr)
c.4238T>C (p.Ile1413Thr)
c.1370T>C (p.Ile457Thr)
18g.33744254T>GCA402190839ASXL3c.4409T>G (p.Ile1470Ser)
c.4406T>G (p.Ile1469Ser)
c.4286T>G (p.Ile1429Ser)
c.4382T>G (p.Ile1461Ser)
c.4328T>G (p.Ile1443Ser)
c.4289T>G (p.Ile1430Ser)
c.4238T>G (p.Ile1413Ser)
c.1370T>G (p.Ile457Ser)
18g.33744255T>ACA503770258ASXL3c.4410T>A (p.Ile1470=)
c.4407T>A (p.Ile1469=)
c.4287T>A (p.Ile1429=)
c.4383T>A (p.Ile1461=)
c.4329T>A (p.Ile1443=)
c.4290T>A (p.Ile1430=)
c.4239T>A (p.Ile1413=)
c.1371T>A (p.Ile457=)
18g.33744255T>CCA503770259ASXL3c.4410T>C (p.Ile1470=)
c.4407T>C (p.Ile1469=)
c.4287T>C (p.Ile1429=)
c.4383T>C (p.Ile1461=)
c.4329T>C (p.Ile1443=)
c.4290T>C (p.Ile1430=)
c.4239T>C (p.Ile1413=)
c.1371T>C (p.Ile457=)
18g.33744255T>GCA402190840ASXL3c.4410T>G (p.Ile1470Met)
c.4407T>G (p.Ile1469Met)
c.4287T>G (p.Ile1429Met)
c.4383T>G (p.Ile1461Met)
c.4329T>G (p.Ile1443Met)
c.4290T>G (p.Ile1430Met)
c.4239T>G (p.Ile1413Met)
c.1371T>G (p.Ile457Met)
18g.33744256C>ACA402190841ASXL3c.4411C>A (p.Pro1471Thr)
c.4408C>A (p.Pro1470Thr)
c.4288C>A (p.Pro1430Thr)
c.4384C>A (p.Pro1462Thr)
c.4330C>A (p.Pro1444Thr)
c.4291C>A (p.Pro1431Thr)
c.4240C>A (p.Pro1414Thr)
c.1372C>A (p.Pro458Thr)
18g.33744256C>GCA402190842ASXL3c.4411C>G (p.Pro1471Ala)
c.4408C>G (p.Pro1470Ala)
c.4288C>G (p.Pro1430Ala)
c.4384C>G (p.Pro1462Ala)
c.4330C>G (p.Pro1444Ala)
c.4291C>G (p.Pro1431Ala)
c.4240C>G (p.Pro1414Ala)
c.1372C>G (p.Pro458Ala)
18g.33744256C>TCA402190843ASXL3c.4411C>T (p.Pro1471Ser)
c.4408C>T (p.Pro1470Ser)
c.4288C>T (p.Pro1430Ser)
c.4384C>T (p.Pro1462Ser)
c.4330C>T (p.Pro1444Ser)
c.4291C>T (p.Pro1431Ser)
c.4240C>T (p.Pro1414Ser)
c.1372C>T (p.Pro458Ser)
 gnomAD v4 COSMIC
18g.33744257delCA2580095669ASXL3c.4412del (p.Pro1471ArgfsTer12)
c.4409del (p.Pro1470ArgfsTer12)
c.4289del (p.Pro1430ArgfsTer12)
c.4385del (p.Pro1462ArgfsTer12)
c.4331del (p.Pro1444ArgfsTer12)
c.4292del (p.Pro1431ArgfsTer12)
c.4241del (p.Pro1414ArgfsTer12)
c.1373del (p.Pro458ArgfsTer12)
 ClinVar
18g.33744257C>ACA402190844ASXL3c.4412C>A (p.Pro1471Gln)
c.4409C>A (p.Pro1470Gln)
c.4289C>A (p.Pro1430Gln)
c.4385C>A (p.Pro1462Gln)
c.4331C>A (p.Pro1444Gln)
c.4292C>A (p.Pro1431Gln)
c.4241C>A (p.Pro1414Gln)
c.1373C>A (p.Pro458Gln)
 gnomAD v4 COSMIC
18g.33744257C=CA2294858062ASXL3c.4412C= (p.Pro1471=)
c.4409C= (p.Pro1470=)
c.4289C= (p.Pro1430=)
c.4385C= (p.Pro1462=)
c.4331C= (p.Pro1444=)
c.4292C= (p.Pro1431=)
c.4241C= (p.Pro1414=)
c.1373C= (p.Pro458=)
18g.33744257C>GCA402190845ASXL3c.4412C>G (p.Pro1471Arg)
c.4409C>G (p.Pro1470Arg)
c.4289C>G (p.Pro1430Arg)
c.4385C>G (p.Pro1462Arg)
c.4331C>G (p.Pro1444Arg)
c.4292C>G (p.Pro1431Arg)
c.4241C>G (p.Pro1414Arg)
c.1373C>G (p.Pro458Arg)
 gnomAD v4
18g.33744257C>TCA402190846ASXL3c.4412C>T (p.Pro1471Leu)
c.4409C>T (p.Pro1470Leu)
c.4289C>T (p.Pro1430Leu)
c.4385C>T (p.Pro1462Leu)
c.4331C>T (p.Pro1444Leu)
c.4292C>T (p.Pro1431Leu)
c.4241C>T (p.Pro1414Leu)
c.1373C>T (p.Pro458Leu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
18g.33744258G>ACA503770269ASXL3c.4413G>A (p.Pro1471=)
c.4410G>A (p.Pro1470=)
c.4290G>A (p.Pro1430=)
c.4386G>A (p.Pro1462=)
c.4332G>A (p.Pro1444=)
c.4293G>A (p.Pro1431=)
c.4242G>A (p.Pro1414=)
c.1374G>A (p.Pro458=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33744258G>CCA503770266ASXL3c.4413G>C (p.Pro1471=)
c.4410G>C (p.Pro1470=)
c.4290G>C (p.Pro1430=)
c.4386G>C (p.Pro1462=)
c.4332G>C (p.Pro1444=)
c.4293G>C (p.Pro1431=)
c.4242G>C (p.Pro1414=)
c.1374G>C (p.Pro458=)
 gnomAD v4
18g.33744258G=CA2294858063ASXL3c.4413G= (p.Pro1471=)
c.4410G= (p.Pro1470=)
c.4290G= (p.Pro1430=)
c.4386G= (p.Pro1462=)
c.4332G= (p.Pro1444=)
c.4293G= (p.Pro1431=)
c.4242G= (p.Pro1414=)
c.1374G= (p.Pro458=)
18g.33744258G>TCA503770267ASXL3c.4413G>T (p.Pro1471=)
c.4410G>T (p.Pro1470=)
c.4290G>T (p.Pro1430=)
c.4386G>T (p.Pro1462=)
c.4332G>T (p.Pro1444=)
c.4293G>T (p.Pro1431=)
c.4242G>T (p.Pro1414=)
c.1374G>T (p.Pro458=)
18g.33744259T>ACA402190847ASXL3c.4414T>A (p.Cys1472Ser)
c.4411T>A (p.Cys1471Ser)
c.4291T>A (p.Cys1431Ser)
c.4387T>A (p.Cys1463Ser)
c.4333T>A (p.Cys1445Ser)
c.4294T>A (p.Cys1432Ser)
c.4243T>A (p.Cys1415Ser)
c.1375T>A (p.Cys459Ser)
18g.33744259T>CCA402190848ASXL3c.4414T>C (p.Cys1472Arg)
c.4411T>C (p.Cys1471Arg)
c.4291T>C (p.Cys1431Arg)
c.4387T>C (p.Cys1463Arg)
c.4333T>C (p.Cys1445Arg)
c.4294T>C (p.Cys1432Arg)
c.4243T>C (p.Cys1415Arg)
c.1375T>C (p.Cys459Arg)
18g.33744259T>GCA402190849ASXL3c.4414T>G (p.Cys1472Gly)
c.4411T>G (p.Cys1471Gly)
c.4291T>G (p.Cys1431Gly)
c.4387T>G (p.Cys1463Gly)
c.4333T>G (p.Cys1445Gly)
c.4294T>G (p.Cys1432Gly)
c.4243T>G (p.Cys1415Gly)
c.1375T>G (p.Cys459Gly)
18g.33744260G>ACA402190850ASXL3c.4415G>A (p.Cys1472Tyr)
c.4412G>A (p.Cys1471Tyr)
c.4292G>A (p.Cys1431Tyr)
c.4388G>A (p.Cys1463Tyr)
c.4334G>A (p.Cys1445Tyr)
c.4295G>A (p.Cys1432Tyr)
c.4244G>A (p.Cys1415Tyr)
c.1376G>A (p.Cys459Tyr)
 dbSNP gnomAD v2 gnomAD v4
18g.33744260G>CCA402190851ASXL3c.4415G>C (p.Cys1472Ser)
c.4412G>C (p.Cys1471Ser)
c.4292G>C (p.Cys1431Ser)
c.4388G>C (p.Cys1463Ser)
c.4334G>C (p.Cys1445Ser)
c.4295G>C (p.Cys1432Ser)
c.4244G>C (p.Cys1415Ser)
c.1376G>C (p.Cys459Ser)
 gnomAD v4
18g.33744260G=CA2294858064ASXL3c.4415G= (p.Cys1472=)
c.4412G= (p.Cys1471=)
c.4292G= (p.Cys1431=)
c.4388G= (p.Cys1463=)
c.4334G= (p.Cys1445=)
c.4295G= (p.Cys1432=)
c.4244G= (p.Cys1415=)
c.1376G= (p.Cys459=)
18g.33744260G>TCA402190852ASXL3c.4415G>T (p.Cys1472Phe)
c.4412G>T (p.Cys1471Phe)
c.4292G>T (p.Cys1431Phe)
c.4388G>T (p.Cys1463Phe)
c.4334G>T (p.Cys1445Phe)
c.4295G>T (p.Cys1432Phe)
c.4244G>T (p.Cys1415Phe)
c.1376G>T (p.Cys459Phe)
18g.33744261T>ACA402190853ASXL3c.4416T>A (p.Cys1472Ter)
c.4413T>A (p.Cys1471Ter)
c.4293T>A (p.Cys1431Ter)
c.4389T>A (p.Cys1463Ter)
c.4335T>A (p.Cys1445Ter)
c.4296T>A (p.Cys1432Ter)
c.4245T>A (p.Cys1415Ter)
c.1377T>A (p.Cys459Ter)
18g.33744261T>CCA503770276ASXL3c.4416T>C (p.Cys1472=)
c.4413T>C (p.Cys1471=)
c.4293T>C (p.Cys1431=)
c.4389T>C (p.Cys1463=)
c.4335T>C (p.Cys1445=)
c.4296T>C (p.Cys1432=)
c.4245T>C (p.Cys1415=)
c.1377T>C (p.Cys459=)
18g.33744261T>GCA402190854ASXL3c.4416T>G (p.Cys1472Trp)
c.4413T>G (p.Cys1471Trp)
c.4293T>G (p.Cys1431Trp)
c.4389T>G (p.Cys1463Trp)
c.4335T>G (p.Cys1445Trp)
c.4296T>G (p.Cys1432Trp)
c.4245T>G (p.Cys1415Trp)
c.1377T>G (p.Cys459Trp)
18g.33744262A=CA2294858065ASXL3c.4417A= (p.Lys1473=)
c.4414A= (p.Lys1472=)
c.4294A= (p.Lys1432=)
c.4390A= (p.Lys1464=)
c.4336A= (p.Lys1446=)
c.4297A= (p.Lys1433=)
c.4246A= (p.Lys1416=)
c.1378A= (p.Lys460=)
18g.33744262A>CCA402190857ASXL3c.4417A>C (p.Lys1473Gln)
c.4414A>C (p.Lys1472Gln)
c.4294A>C (p.Lys1432Gln)
c.4390A>C (p.Lys1464Gln)
c.4336A>C (p.Lys1446Gln)
c.4297A>C (p.Lys1433Gln)
c.4246A>C (p.Lys1416Gln)
c.1378A>C (p.Lys460Gln)
18g.33744262A>GCA402190855ASXL3c.4417A>G (p.Lys1473Glu)
c.4414A>G (p.Lys1472Glu)
c.4294A>G (p.Lys1432Glu)
c.4390A>G (p.Lys1464Glu)
c.4336A>G (p.Lys1446Glu)
c.4297A>G (p.Lys1433Glu)
c.4246A>G (p.Lys1416Glu)
c.1378A>G (p.Lys460Glu)
 dbSNP gnomAD v2 gnomAD v4
18g.33744262A>TCA402190856ASXL3c.4417A>T (p.Lys1473Ter)
c.4414A>T (p.Lys1472Ter)
c.4294A>T (p.Lys1432Ter)
c.4390A>T (p.Lys1464Ter)
c.4336A>T (p.Lys1446Ter)
c.4297A>T (p.Lys1433Ter)
c.4246A>T (p.Lys1416Ter)
c.1378A>T (p.Lys460Ter)
18g.33744263A>CCA402190858ASXL3c.4418A>C (p.Lys1473Thr)
c.4415A>C (p.Lys1472Thr)
c.4295A>C (p.Lys1432Thr)
c.4391A>C (p.Lys1464Thr)
c.4337A>C (p.Lys1446Thr)
c.4298A>C (p.Lys1433Thr)
c.4247A>C (p.Lys1416Thr)
c.1379A>C (p.Lys460Thr)
18g.33744263A>GCA402190859ASXL3c.4418A>G (p.Lys1473Arg)
c.4415A>G (p.Lys1472Arg)
c.4295A>G (p.Lys1432Arg)
c.4391A>G (p.Lys1464Arg)
c.4337A>G (p.Lys1446Arg)
c.4298A>G (p.Lys1433Arg)
c.4247A>G (p.Lys1416Arg)
c.1379A>G (p.Lys460Arg)
18g.33744263A>TCA402190860ASXL3c.4418A>T (p.Lys1473Ile)
c.4415A>T (p.Lys1472Ile)
c.4295A>T (p.Lys1432Ile)
c.4391A>T (p.Lys1464Ile)
c.4337A>T (p.Lys1446Ile)
c.4298A>T (p.Lys1433Ile)
c.4247A>T (p.Lys1416Ile)
c.1379A>T (p.Lys460Ile)
18g.33744264A=CA2294858066ASXL3c.4419A= (p.Lys1473=)
c.4416A= (p.Lys1472=)
c.4296A= (p.Lys1432=)
c.4392A= (p.Lys1464=)
c.4338A= (p.Lys1446=)
c.4299A= (p.Lys1433=)
c.4248A= (p.Lys1416=)
c.1380A= (p.Lys460=)
18g.33744264A>CCA402190861ASXL3c.4419A>C (p.Lys1473Asn)
c.4416A>C (p.Lys1472Asn)
c.4296A>C (p.Lys1432Asn)
c.4392A>C (p.Lys1464Asn)
c.4338A>C (p.Lys1446Asn)
c.4299A>C (p.Lys1433Asn)
c.4248A>C (p.Lys1416Asn)
c.1380A>C (p.Lys460Asn)
18g.33744264A>GCA503770284ASXL3c.4419A>G (p.Lys1473=)
c.4416A>G (p.Lys1472=)
c.4296A>G (p.Lys1432=)
c.4392A>G (p.Lys1464=)
c.4338A>G (p.Lys1446=)
c.4299A>G (p.Lys1433=)
c.4248A>G (p.Lys1416=)
c.1380A>G (p.Lys460=)
 dbSNP
18g.33744264A>TCA402190862ASXL3c.4419A>T (p.Lys1473Asn)
c.4416A>T (p.Lys1472Asn)
c.4296A>T (p.Lys1432Asn)
c.4392A>T (p.Lys1464Asn)
c.4338A>T (p.Lys1446Asn)
c.4299A>T (p.Lys1433Asn)
c.4248A>T (p.Lys1416Asn)
c.1380A>T (p.Lys460Asn)
18g.33744265G>ACA402190863ASXL3c.4420G>A (p.Val1474Ile)
c.4417G>A (p.Val1473Ile)
c.4297G>A (p.Val1433Ile)
c.4393G>A (p.Val1465Ile)
c.4339G>A (p.Val1447Ile)
c.4300G>A (p.Val1434Ile)
c.4249G>A (p.Val1417Ile)
c.1381G>A (p.Val461Ile)
18g.33744265G>CCA402190864ASXL3c.4420G>C (p.Val1474Leu)
c.4417G>C (p.Val1473Leu)
c.4297G>C (p.Val1433Leu)
c.4393G>C (p.Val1465Leu)
c.4339G>C (p.Val1447Leu)
c.4300G>C (p.Val1434Leu)
c.4249G>C (p.Val1417Leu)
c.1381G>C (p.Val461Leu)
18g.33744265G>TCA402190865ASXL3c.4420G>T (p.Val1474Phe)
c.4417G>T (p.Val1473Phe)
c.4297G>T (p.Val1433Phe)
c.4393G>T (p.Val1465Phe)
c.4339G>T (p.Val1447Phe)
c.4300G>T (p.Val1434Phe)
c.4249G>T (p.Val1417Phe)
c.1381G>T (p.Val461Phe)
18g.33744266T>ACA402190866ASXL3c.4421T>A (p.Val1474Asp)
c.4418T>A (p.Val1473Asp)
c.4298T>A (p.Val1433Asp)
c.4394T>A (p.Val1465Asp)
c.4340T>A (p.Val1447Asp)
c.4301T>A (p.Val1434Asp)
c.4250T>A (p.Val1417Asp)
c.1382T>A (p.Val461Asp)
18g.33744266T>CCA402190867ASXL3c.4421T>C (p.Val1474Ala)
c.4418T>C (p.Val1473Ala)
c.4298T>C (p.Val1433Ala)
c.4394T>C (p.Val1465Ala)
c.4340T>C (p.Val1447Ala)
c.4301T>C (p.Val1434Ala)
c.4250T>C (p.Val1417Ala)
c.1382T>C (p.Val461Ala)
18g.33744266T>GCA402190868ASXL3c.4421T>G (p.Val1474Gly)
c.4418T>G (p.Val1473Gly)
c.4298T>G (p.Val1433Gly)
c.4394T>G (p.Val1465Gly)
c.4340T>G (p.Val1447Gly)
c.4301T>G (p.Val1434Gly)
c.4250T>G (p.Val1417Gly)
c.1382T>G (p.Val461Gly)
18g.33744267C>ACA8934258ASXL3c.4422C>A (p.Val1474=)
c.4419C>A (p.Val1473=)
c.4299C>A (p.Val1433=)
c.4395C>A (p.Val1465=)
c.4341C>A (p.Val1447=)
c.4302C>A (p.Val1434=)
c.4251C>A (p.Val1417=)
c.1383C>A (p.Val461=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
18g.33744267C=CA2294858067ASXL3c.4422C= (p.Val1474=)
c.4419C= (p.Val1473=)
c.4299C= (p.Val1433=)
c.4395C= (p.Val1465=)
c.4341C= (p.Val1447=)
c.4302C= (p.Val1434=)
c.4251C= (p.Val1417=)
c.1383C= (p.Val461=)
18g.33744267C>GCA503770288ASXL3c.4422C>G (p.Val1474=)
c.4419C>G (p.Val1473=)
c.4299C>G (p.Val1433=)
c.4395C>G (p.Val1465=)
c.4341C>G (p.Val1447=)
c.4302C>G (p.Val1434=)
c.4251C>G (p.Val1417=)
c.1383C>G (p.Val461=)
18g.33744267C>TCA503770289ASXL3c.4422C>T (p.Val1474=)
c.4419C>T (p.Val1473=)
c.4299C>T (p.Val1433=)
c.4395C>T (p.Val1465=)
c.4341C>T (p.Val1447=)
c.4302C>T (p.Val1434=)
c.4251C>T (p.Val1417=)
c.1383C>T (p.Val461=)
18g.33744268A=CA2294858068ASXL3c.4423A= (p.Ile1475=)
c.4420A= (p.Ile1474=)
c.4300A= (p.Ile1434=)
c.4396A= (p.Ile1466=)
c.4342A= (p.Ile1448=)
c.4303A= (p.Ile1435=)
c.4252A= (p.Ile1418=)
c.1384A= (p.Ile462=)
18g.33744268A>CCA402190871ASXL3c.4423A>C (p.Ile1475Leu)
c.4420A>C (p.Ile1474Leu)
c.4300A>C (p.Ile1434Leu)
c.4396A>C (p.Ile1466Leu)
c.4342A>C (p.Ile1448Leu)
c.4303A>C (p.Ile1435Leu)
c.4252A>C (p.Ile1418Leu)
c.1384A>C (p.Ile462Leu)
18g.33744268A>GCA402190870ASXL3c.4423A>G (p.Ile1475Val)
c.4420A>G (p.Ile1474Val)
c.4300A>G (p.Ile1434Val)
c.4396A>G (p.Ile1466Val)
c.4342A>G (p.Ile1448Val)
c.4303A>G (p.Ile1435Val)
c.4252A>G (p.Ile1418Val)
c.1384A>G (p.Ile462Val)
 dbSNP gnomAD v2 gnomAD v4
18g.33744268A>TCA402190869ASXL3c.4423A>T (p.Ile1475Phe)
c.4420A>T (p.Ile1474Phe)
c.4300A>T (p.Ile1434Phe)
c.4396A>T (p.Ile1466Phe)
c.4342A>T (p.Ile1448Phe)
c.4303A>T (p.Ile1435Phe)
c.4252A>T (p.Ile1418Phe)
c.1384A>T (p.Ile462Phe)
18g.33744269T>ACA402190872ASXL3c.4424T>A (p.Ile1475Asn)
c.4421T>A (p.Ile1474Asn)
c.4301T>A (p.Ile1434Asn)
c.4397T>A (p.Ile1466Asn)
c.4343T>A (p.Ile1448Asn)
c.4304T>A (p.Ile1435Asn)
c.4253T>A (p.Ile1418Asn)
c.1385T>A (p.Ile462Asn)
18g.33744269T>CCA402190873ASXL3c.4424T>C (p.Ile1475Thr)
c.4421T>C (p.Ile1474Thr)
c.4301T>C (p.Ile1434Thr)
c.4397T>C (p.Ile1466Thr)
c.4343T>C (p.Ile1448Thr)
c.4304T>C (p.Ile1435Thr)
c.4253T>C (p.Ile1418Thr)
c.1385T>C (p.Ile462Thr)
18g.33744269T>GCA402190874ASXL3c.4424T>G (p.Ile1475Ser)
c.4421T>G (p.Ile1474Ser)
c.4301T>G (p.Ile1434Ser)
c.4397T>G (p.Ile1466Ser)
c.4343T>G (p.Ile1448Ser)
c.4304T>G (p.Ile1435Ser)
c.4253T>G (p.Ile1418Ser)
c.1385T>G (p.Ile462Ser)
18g.33744270C>ACA503770292ASXL3c.4425C>A (p.Ile1475=)
c.4422C>A (p.Ile1474=)
c.4302C>A (p.Ile1434=)
c.4398C>A (p.Ile1466=)
c.4344C>A (p.Ile1448=)
c.4305C>A (p.Ile1435=)
c.4254C>A (p.Ile1418=)
c.1386C>A (p.Ile462=)
 dbSNP
18g.33744270C=CA2294858069ASXL3c.4425C= (p.Ile1475=)
c.4422C= (p.Ile1474=)
c.4302C= (p.Ile1434=)
c.4398C= (p.Ile1466=)
c.4344C= (p.Ile1448=)
c.4305C= (p.Ile1435=)
c.4254C= (p.Ile1418=)
c.1386C= (p.Ile462=)
18g.33744270C>GCA402190875ASXL3c.4425C>G (p.Ile1475Met)
c.4422C>G (p.Ile1474Met)
c.4302C>G (p.Ile1434Met)
c.4398C>G (p.Ile1466Met)
c.4344C>G (p.Ile1448Met)
c.4305C>G (p.Ile1435Met)
c.4254C>G (p.Ile1418Met)
c.1386C>G (p.Ile462Met)
18g.33744270C>TCA503770296ASXL3c.4425C>T (p.Ile1475=)
c.4422C>T (p.Ile1474=)
c.4302C>T (p.Ile1434=)
c.4398C>T (p.Ile1466=)
c.4344C>T (p.Ile1448=)
c.4305C>T (p.Ile1435=)
c.4254C>T (p.Ile1418=)
c.1386C>T (p.Ile462=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33744271G>ACA8934259ASXL3c.4426G>A (p.Val1476Ile)
c.4423G>A (p.Val1475Ile)
c.4303G>A (p.Val1435Ile)
c.4399G>A (p.Val1467Ile)
c.4345G>A (p.Val1449Ile)
c.4306G>A (p.Val1436Ile)
c.4255G>A (p.Val1419Ile)
c.1387G>A (p.Val463Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33744271G>CCA402190876ASXL3c.4426G>C (p.Val1476Leu)
c.4423G>C (p.Val1475Leu)
c.4303G>C (p.Val1435Leu)
c.4399G>C (p.Val1467Leu)
c.4345G>C (p.Val1449Leu)
c.4306G>C (p.Val1436Leu)
c.4255G>C (p.Val1419Leu)
c.1387G>C (p.Val463Leu)
18g.33744271G=CA2294858070ASXL3c.4426G= (p.Val1476=)
c.4423G= (p.Val1475=)
c.4303G= (p.Val1435=)
c.4399G= (p.Val1467=)
c.4345G= (p.Val1449=)
c.4306G= (p.Val1436=)
c.4255G= (p.Val1419=)
c.1387G= (p.Val463=)
18g.33744271G>TCA402190877ASXL3c.4426G>T (p.Val1476Phe)
c.4423G>T (p.Val1475Phe)
c.4303G>T (p.Val1435Phe)
c.4399G>T (p.Val1467Phe)
c.4345G>T (p.Val1449Phe)
c.4306G>T (p.Val1436Phe)
c.4255G>T (p.Val1419Phe)
c.1387G>T (p.Val463Phe)
18g.33744272T>ACA402190878ASXL3c.4427T>A (p.Val1476Asp)
c.4424T>A (p.Val1475Asp)
c.4304T>A (p.Val1435Asp)
c.4400T>A (p.Val1467Asp)
c.4346T>A (p.Val1449Asp)
c.4307T>A (p.Val1436Asp)
c.4256T>A (p.Val1419Asp)
c.1388T>A (p.Val463Asp)
 COSMIC
18g.33744272T>CCA402190879ASXL3c.4427T>C (p.Val1476Ala)
c.4424T>C (p.Val1475Ala)
c.4304T>C (p.Val1435Ala)
c.4400T>C (p.Val1467Ala)
c.4346T>C (p.Val1449Ala)
c.4307T>C (p.Val1436Ala)
c.4256T>C (p.Val1419Ala)
c.1388T>C (p.Val463Ala)
 gnomAD v4
18g.33744272T>GCA402190880ASXL3c.4427T>G (p.Val1476Gly)
c.4424T>G (p.Val1475Gly)
c.4304T>G (p.Val1435Gly)
c.4400T>G (p.Val1467Gly)
c.4346T>G (p.Val1449Gly)
c.4307T>G (p.Val1436Gly)
c.4256T>G (p.Val1419Gly)
c.1388T>G (p.Val463Gly)

Number of alleles fetched