Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.25742103C>ACA346073599ASXL2c.4231G>T (p.Gly1411Cys)
c.4234G>T (p.Gly1412Cys)
c.4150G>T (p.Gly1384Cys)
c.2683G>T (p.Gly895Cys)
c.3868G>T (p.Gly1290Cys)
c.3454G>T (p.Gly1152Cys)
c.4060G>T (p.Gly1354Cys)
c.4414G>T (p.Gly1472Cys)
2g.25742103C=CA1239490327ASXL2c.4231G= (p.Gly1411=)
c.4234G= (p.Gly1412=)
c.4150G= (p.Gly1384=)
c.2683G= (p.Gly895=)
c.3868G= (p.Gly1290=)
c.3454G= (p.Gly1152=)
c.4060G= (p.Gly1354=)
c.4414G= (p.Gly1472=)
2g.25742103C>GCA346073597ASXL2c.4231G>C (p.Gly1411Arg)
c.4234G>C (p.Gly1412Arg)
c.4150G>C (p.Gly1384Arg)
c.2683G>C (p.Gly895Arg)
c.3868G>C (p.Gly1290Arg)
c.3454G>C (p.Gly1152Arg)
c.4060G>C (p.Gly1354Arg)
c.4414G>C (p.Gly1472Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.25742103C>TCA346073598ASXL2c.4231G>A (p.Gly1411Ser)
c.4234G>A (p.Gly1412Ser)
c.4150G>A (p.Gly1384Ser)
c.2683G>A (p.Gly895Ser)
c.3868G>A (p.Gly1290Ser)
c.3454G>A (p.Gly1152Ser)
c.4060G>A (p.Gly1354Ser)
c.4414G>A (p.Gly1472Ser)
 COSMIC COSMIC
2g.25742104T>ACA346073600ASXL2c.4230A>T (p.Lys1410Asn)
c.4233A>T (p.Lys1411Asn)
c.4149A>T (p.Lys1383Asn)
c.2682A>T (p.Lys894Asn)
c.3867A>T (p.Lys1289Asn)
c.3453A>T (p.Lys1151Asn)
c.4059A>T (p.Lys1353Asn)
c.4413A>T (p.Lys1471Asn)
2g.25742104T>CCA425181292ASXL2c.4230A>G (p.Lys1410=)
c.4233A>G (p.Lys1411=)
c.4149A>G (p.Lys1383=)
c.2682A>G (p.Lys894=)
c.3867A>G (p.Lys1289=)
c.3453A>G (p.Lys1151=)
c.4059A>G (p.Lys1353=)
c.4413A>G (p.Lys1471=)
2g.25742104T>GCA346073601ASXL2c.4230A>C (p.Lys1410Asn)
c.4233A>C (p.Lys1411Asn)
c.4149A>C (p.Lys1383Asn)
c.2682A>C (p.Lys894Asn)
c.3867A>C (p.Lys1289Asn)
c.3453A>C (p.Lys1151Asn)
c.4059A>C (p.Lys1353Asn)
c.4413A>C (p.Lys1471Asn)
2g.25742105T>ACA346073602ASXL2c.4229A>T (p.Lys1410Ile)
c.4232A>T (p.Lys1411Ile)
c.4148A>T (p.Lys1383Ile)
c.2681A>T (p.Lys894Ile)
c.3866A>T (p.Lys1289Ile)
c.3452A>T (p.Lys1151Ile)
c.4058A>T (p.Lys1353Ile)
c.4412A>T (p.Lys1471Ile)
 ClinVar
2g.25742105T>CCA346073603ASXL2c.4229A>G (p.Lys1410Arg)
c.4232A>G (p.Lys1411Arg)
c.4148A>G (p.Lys1383Arg)
c.2681A>G (p.Lys894Arg)
c.3866A>G (p.Lys1289Arg)
c.3452A>G (p.Lys1151Arg)
c.4058A>G (p.Lys1353Arg)
c.4412A>G (p.Lys1471Arg)
 ClinVar gnomAD v4
2g.25742105T>GCA346073604ASXL2c.4229A>C (p.Lys1410Thr)
c.4232A>C (p.Lys1411Thr)
c.4148A>C (p.Lys1383Thr)
c.2681A>C (p.Lys894Thr)
c.3866A>C (p.Lys1289Thr)
c.3452A>C (p.Lys1151Thr)
c.4058A>C (p.Lys1353Thr)
c.4412A>C (p.Lys1471Thr)
2g.25742106T>ACA346073605ASXL2c.4228A>T (p.Lys1410Ter)
c.4231A>T (p.Lys1411Ter)
c.4147A>T (p.Lys1383Ter)
c.2680A>T (p.Lys894Ter)
c.3865A>T (p.Lys1289Ter)
c.3451A>T (p.Lys1151Ter)
c.4057A>T (p.Lys1353Ter)
c.4411A>T (p.Lys1471Ter)
2g.25742106T>CCA346073606ASXL2c.4228A>G (p.Lys1410Glu)
c.4231A>G (p.Lys1411Glu)
c.4147A>G (p.Lys1383Glu)
c.2680A>G (p.Lys894Glu)
c.3865A>G (p.Lys1289Glu)
c.3451A>G (p.Lys1151Glu)
c.4057A>G (p.Lys1353Glu)
c.4411A>G (p.Lys1471Glu)
2g.25742106T>GCA346073607ASXL2c.4228A>C (p.Lys1410Gln)
c.4231A>C (p.Lys1411Gln)
c.4147A>C (p.Lys1383Gln)
c.2680A>C (p.Lys894Gln)
c.3865A>C (p.Lys1289Gln)
c.3451A>C (p.Lys1151Gln)
c.4057A>C (p.Lys1353Gln)
c.4411A>C (p.Lys1471Gln)
2g.25742107G>ACA425181294ASXL2c.4227C>T (p.Cys1409=)
c.4230C>T (p.Cys1410=)
c.4146C>T (p.Cys1382=)
c.2679C>T (p.Cys893=)
c.3864C>T (p.Cys1288=)
c.3450C>T (p.Cys1150=)
c.4056C>T (p.Cys1352=)
c.4410C>T (p.Cys1470=)
2g.25742107G>CCA346073608ASXL2c.4227C>G (p.Cys1409Trp)
c.4230C>G (p.Cys1410Trp)
c.4146C>G (p.Cys1382Trp)
c.2679C>G (p.Cys893Trp)
c.3864C>G (p.Cys1288Trp)
c.3450C>G (p.Cys1150Trp)
c.4056C>G (p.Cys1352Trp)
c.4410C>G (p.Cys1470Trp)
2g.25742107G>TCA346073609ASXL2c.4227C>A (p.Cys1409Ter)
c.4230C>A (p.Cys1410Ter)
c.4146C>A (p.Cys1382Ter)
c.2679C>A (p.Cys893Ter)
c.3864C>A (p.Cys1288Ter)
c.3450C>A (p.Cys1150Ter)
c.4056C>A (p.Cys1352Ter)
c.4410C>A (p.Cys1470Ter)
 COSMIC COSMIC
2g.25742108C>ACA346073610ASXL2c.4226G>T (p.Cys1409Phe)
c.4229G>T (p.Cys1410Phe)
c.4145G>T (p.Cys1382Phe)
c.2678G>T (p.Cys893Phe)
c.3863G>T (p.Cys1288Phe)
c.3449G>T (p.Cys1150Phe)
c.4055G>T (p.Cys1352Phe)
c.4409G>T (p.Cys1470Phe)
2g.25742108C>GCA346073611ASXL2c.4226G>C (p.Cys1409Ser)
c.4229G>C (p.Cys1410Ser)
c.4145G>C (p.Cys1382Ser)
c.2678G>C (p.Cys893Ser)
c.3863G>C (p.Cys1288Ser)
c.3449G>C (p.Cys1150Ser)
c.4055G>C (p.Cys1352Ser)
c.4409G>C (p.Cys1470Ser)
2g.25742108C>TCA346073612ASXL2c.4226G>A (p.Cys1409Tyr)
c.4229G>A (p.Cys1410Tyr)
c.4145G>A (p.Cys1382Tyr)
c.2678G>A (p.Cys893Tyr)
c.3863G>A (p.Cys1288Tyr)
c.3449G>A (p.Cys1150Tyr)
c.4055G>A (p.Cys1352Tyr)
c.4409G>A (p.Cys1470Tyr)
2g.25742109A=CA1239490328ASXL2c.4225T= (p.Cys1409=)
c.4228T= (p.Cys1410=)
c.4144T= (p.Cys1382=)
c.2677T= (p.Cys893=)
c.3862T= (p.Cys1288=)
c.3448T= (p.Cys1150=)
c.4054T= (p.Cys1352=)
c.4408T= (p.Cys1470=)
2g.25742109A>CCA346073615ASXL2c.4225T>G (p.Cys1409Gly)
c.4228T>G (p.Cys1410Gly)
c.4144T>G (p.Cys1382Gly)
c.2677T>G (p.Cys893Gly)
c.3862T>G (p.Cys1288Gly)
c.3448T>G (p.Cys1150Gly)
c.4054T>G (p.Cys1352Gly)
c.4408T>G (p.Cys1470Gly)
 ClinVar dbSNP
2g.25742109A>GCA346073614ASXL2c.4225T>C (p.Cys1409Arg)
c.4228T>C (p.Cys1410Arg)
c.4144T>C (p.Cys1382Arg)
c.2677T>C (p.Cys893Arg)
c.3862T>C (p.Cys1288Arg)
c.3448T>C (p.Cys1150Arg)
c.4054T>C (p.Cys1352Arg)
c.4408T>C (p.Cys1470Arg)
2g.25742109A>TCA346073613ASXL2c.4225T>A (p.Cys1409Ser)
c.4228T>A (p.Cys1410Ser)
c.4144T>A (p.Cys1382Ser)
c.2677T>A (p.Cys893Ser)
c.3862T>A (p.Cys1288Ser)
c.3448T>A (p.Cys1150Ser)
c.4054T>A (p.Cys1352Ser)
c.4408T>A (p.Cys1470Ser)
 COSMIC COSMIC
2g.25742110C>ACA43734143ASXL2c.4224G>T (p.Met1408Ile)
c.4227G>T (p.Met1409Ile)
c.4143G>T (p.Met1381Ile)
c.2676G>T (p.Met892Ile)
c.3861G>T (p.Met1287Ile)
c.3447G>T (p.Met1149Ile)
c.4053G>T (p.Met1351Ile)
c.4407G>T (p.Met1469Ile)
 dbSNP
2g.25742110C=CA1239490329ASXL2c.4224G= (p.Met1408=)
c.4227G= (p.Met1409=)
c.4143G= (p.Met1381=)
c.2676G= (p.Met892=)
c.3861G= (p.Met1287=)
c.3447G= (p.Met1149=)
c.4053G= (p.Met1351=)
c.4407G= (p.Met1469=)
2g.25742110C>GCA346073617ASXL2c.4224G>C (p.Met1408Ile)
c.4227G>C (p.Met1409Ile)
c.4143G>C (p.Met1381Ile)
c.2676G>C (p.Met892Ile)
c.3861G>C (p.Met1287Ile)
c.3447G>C (p.Met1149Ile)
c.4053G>C (p.Met1351Ile)
c.4407G>C (p.Met1469Ile)
2g.25742110C>TCA346073616ASXL2c.4224G>A (p.Met1408Ile)
c.4227G>A (p.Met1409Ile)
c.4143G>A (p.Met1381Ile)
c.2676G>A (p.Met892Ile)
c.3861G>A (p.Met1287Ile)
c.3447G>A (p.Met1149Ile)
c.4053G>A (p.Met1351Ile)
c.4407G>A (p.Met1469Ile)
2g.25742111A=CA1239490330ASXL2c.4223T= (p.Met1408=)
c.4226T= (p.Met1409=)
c.4142T= (p.Met1381=)
c.2675T= (p.Met892=)
c.3860T= (p.Met1287=)
c.3446T= (p.Met1149=)
c.4052T= (p.Met1351=)
c.4406T= (p.Met1469=)
2g.25742111A>CCA346073618ASXL2c.4223T>G (p.Met1408Arg)
c.4226T>G (p.Met1409Arg)
c.4142T>G (p.Met1381Arg)
c.2675T>G (p.Met892Arg)
c.3860T>G (p.Met1287Arg)
c.3446T>G (p.Met1149Arg)
c.4052T>G (p.Met1351Arg)
c.4406T>G (p.Met1469Arg)
2g.25742111A>GCA346073619ASXL2c.4223T>C (p.Met1408Thr)
c.4226T>C (p.Met1409Thr)
c.4142T>C (p.Met1381Thr)
c.2675T>C (p.Met892Thr)
c.3860T>C (p.Met1287Thr)
c.3446T>C (p.Met1149Thr)
c.4052T>C (p.Met1351Thr)
c.4406T>C (p.Met1469Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.25742111A>TCA346073620ASXL2c.4223T>A (p.Met1408Lys)
c.4226T>A (p.Met1409Lys)
c.4142T>A (p.Met1381Lys)
c.2675T>A (p.Met892Lys)
c.3860T>A (p.Met1287Lys)
c.3446T>A (p.Met1149Lys)
c.4052T>A (p.Met1351Lys)
c.4406T>A (p.Met1469Lys)
2g.25742112T>ACA346073621ASXL2c.4222A>T (p.Met1408Leu)
c.4225A>T (p.Met1409Leu)
c.4141A>T (p.Met1381Leu)
c.2674A>T (p.Met892Leu)
c.3859A>T (p.Met1287Leu)
c.3445A>T (p.Met1149Leu)
c.4051A>T (p.Met1351Leu)
c.4405A>T (p.Met1469Leu)
2g.25742112T>CCA346073622ASXL2c.4222A>G (p.Met1408Val)
c.4225A>G (p.Met1409Val)
c.4141A>G (p.Met1381Val)
c.2674A>G (p.Met892Val)
c.3859A>G (p.Met1287Val)
c.3445A>G (p.Met1149Val)
c.4051A>G (p.Met1351Val)
c.4405A>G (p.Met1469Val)
2g.25742112T>GCA346073623ASXL2c.4222A>C (p.Met1408Leu)
c.4225A>C (p.Met1409Leu)
c.4141A>C (p.Met1381Leu)
c.2674A>C (p.Met892Leu)
c.3859A>C (p.Met1287Leu)
c.3445A>C (p.Met1149Leu)
c.4051A>C (p.Met1351Leu)
c.4405A>C (p.Met1469Leu)
 gnomAD v4
2g.25742113G>ACA425181297ASXL2c.4221C>T (p.Ile1407=)
c.4224C>T (p.Ile1408=)
c.4140C>T (p.Ile1380=)
c.2673C>T (p.Ile891=)
c.3858C>T (p.Ile1286=)
c.3444C>T (p.Ile1148=)
c.4050C>T (p.Ile1350=)
c.4404C>T (p.Ile1468=)
2g.25742113G>CCA346073624ASXL2c.4221C>G (p.Ile1407Met)
c.4224C>G (p.Ile1408Met)
c.4140C>G (p.Ile1380Met)
c.2673C>G (p.Ile891Met)
c.3858C>G (p.Ile1286Met)
c.3444C>G (p.Ile1148Met)
c.4050C>G (p.Ile1350Met)
c.4404C>G (p.Ile1468Met)
 ClinVar gnomAD v4
2g.25742113G=CA1239490331ASXL2c.4221C= (p.Ile1407=)
c.4224C= (p.Ile1408=)
c.4140C= (p.Ile1380=)
c.2673C= (p.Ile891=)
c.3858C= (p.Ile1286=)
c.3444C= (p.Ile1148=)
c.4050C= (p.Ile1350=)
c.4404C= (p.Ile1468=)
2g.25742113G>TCA1557332ASXL2c.4221C>A (p.Ile1407=)
c.4224C>A (p.Ile1408=)
c.4140C>A (p.Ile1380=)
c.2673C>A (p.Ile891=)
c.3858C>A (p.Ile1286=)
c.3444C>A (p.Ile1148=)
c.4050C>A (p.Ile1350=)
c.4404C>A (p.Ile1468=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742114A>CCA346073625ASXL2c.4220T>G (p.Ile1407Ser)
c.4223T>G (p.Ile1408Ser)
c.4139T>G (p.Ile1380Ser)
c.2672T>G (p.Ile891Ser)
c.3857T>G (p.Ile1286Ser)
c.3443T>G (p.Ile1148Ser)
c.4049T>G (p.Ile1350Ser)
c.4403T>G (p.Ile1468Ser)
2g.25742114A>GCA346073626ASXL2c.4220T>C (p.Ile1407Thr)
c.4223T>C (p.Ile1408Thr)
c.4139T>C (p.Ile1380Thr)
c.2672T>C (p.Ile891Thr)
c.3857T>C (p.Ile1286Thr)
c.3443T>C (p.Ile1148Thr)
c.4049T>C (p.Ile1350Thr)
c.4403T>C (p.Ile1468Thr)
2g.25742114A>TCA346073627ASXL2c.4220T>A (p.Ile1407Asn)
c.4223T>A (p.Ile1408Asn)
c.4139T>A (p.Ile1380Asn)
c.2672T>A (p.Ile891Asn)
c.3857T>A (p.Ile1286Asn)
c.3443T>A (p.Ile1148Asn)
c.4049T>A (p.Ile1350Asn)
c.4403T>A (p.Ile1468Asn)
2g.25742115T>ACA346073630ASXL2c.4219A>T (p.Ile1407Phe)
c.4222A>T (p.Ile1408Phe)
c.4138A>T (p.Ile1380Phe)
c.2671A>T (p.Ile891Phe)
c.3856A>T (p.Ile1286Phe)
c.3442A>T (p.Ile1148Phe)
c.4048A>T (p.Ile1350Phe)
c.4402A>T (p.Ile1468Phe)
2g.25742115T>CCA346073629ASXL2c.4219A>G (p.Ile1407Val)
c.4222A>G (p.Ile1408Val)
c.4138A>G (p.Ile1380Val)
c.2671A>G (p.Ile891Val)
c.3856A>G (p.Ile1286Val)
c.3442A>G (p.Ile1148Val)
c.4048A>G (p.Ile1350Val)
c.4402A>G (p.Ile1468Val)
2g.25742115T>GCA346073628ASXL2c.4219A>C (p.Ile1407Leu)
c.4222A>C (p.Ile1408Leu)
c.4138A>C (p.Ile1380Leu)
c.2671A>C (p.Ile891Leu)
c.3856A>C (p.Ile1286Leu)
c.3442A>C (p.Ile1148Leu)
c.4048A>C (p.Ile1350Leu)
c.4402A>C (p.Ile1468Leu)
2g.25742116C>ACA346073631ASXL2c.4218G>T (p.Met1406Ile)
c.4221G>T (p.Met1407Ile)
c.4137G>T (p.Met1379Ile)
c.2670G>T (p.Met890Ile)
c.3855G>T (p.Met1285Ile)
c.3441G>T (p.Met1147Ile)
c.4047G>T (p.Met1349Ile)
c.4401G>T (p.Met1467Ile)
2g.25742116C>GCA346073632ASXL2c.4218G>C (p.Met1406Ile)
c.4221G>C (p.Met1407Ile)
c.4137G>C (p.Met1379Ile)
c.2670G>C (p.Met890Ile)
c.3855G>C (p.Met1285Ile)
c.3441G>C (p.Met1147Ile)
c.4047G>C (p.Met1349Ile)
c.4401G>C (p.Met1467Ile)
2g.25742116C>TCA346073633ASXL2c.4218G>A (p.Met1406Ile)
c.4221G>A (p.Met1407Ile)
c.4137G>A (p.Met1379Ile)
c.2670G>A (p.Met890Ile)
c.3855G>A (p.Met1285Ile)
c.3441G>A (p.Met1147Ile)
c.4047G>A (p.Met1349Ile)
c.4401G>A (p.Met1467Ile)
 gnomAD v4
2g.25742117A>CCA346073634ASXL2c.4217T>G (p.Met1406Arg)
c.4220T>G (p.Met1407Arg)
c.4136T>G (p.Met1379Arg)
c.2669T>G (p.Met890Arg)
c.3854T>G (p.Met1285Arg)
c.3440T>G (p.Met1147Arg)
c.4046T>G (p.Met1349Arg)
c.4400T>G (p.Met1467Arg)
2g.25742117A>GCA346073635ASXL2c.4217T>C (p.Met1406Thr)
c.4220T>C (p.Met1407Thr)
c.4136T>C (p.Met1379Thr)
c.2669T>C (p.Met890Thr)
c.3854T>C (p.Met1285Thr)
c.3440T>C (p.Met1147Thr)
c.4046T>C (p.Met1349Thr)
c.4400T>C (p.Met1467Thr)
 gnomAD v4
2g.25742117A>TCA346073636ASXL2c.4217T>A (p.Met1406Lys)
c.4220T>A (p.Met1407Lys)
c.4136T>A (p.Met1379Lys)
c.2669T>A (p.Met890Lys)
c.3854T>A (p.Met1285Lys)
c.3440T>A (p.Met1147Lys)
c.4046T>A (p.Met1349Lys)
c.4400T>A (p.Met1467Lys)
2g.25742118T>ACA346073637ASXL2c.4216A>T (p.Met1406Leu)
c.4219A>T (p.Met1407Leu)
c.4135A>T (p.Met1379Leu)
c.2668A>T (p.Met890Leu)
c.3853A>T (p.Met1285Leu)
c.3439A>T (p.Met1147Leu)
c.4045A>T (p.Met1349Leu)
c.4399A>T (p.Met1467Leu)
 gnomAD v4
2g.25742118T>CCA346073638ASXL2c.4216A>G (p.Met1406Val)
c.4219A>G (p.Met1407Val)
c.4135A>G (p.Met1379Val)
c.2668A>G (p.Met890Val)
c.3853A>G (p.Met1285Val)
c.3439A>G (p.Met1147Val)
c.4045A>G (p.Met1349Val)
c.4399A>G (p.Met1467Val)
 gnomAD v4
2g.25742118T>GCA346073639ASXL2c.4216A>C (p.Met1406Leu)
c.4219A>C (p.Met1407Leu)
c.4135A>C (p.Met1379Leu)
c.2668A>C (p.Met890Leu)
c.3853A>C (p.Met1285Leu)
c.3439A>C (p.Met1147Leu)
c.4045A>C (p.Met1349Leu)
c.4399A>C (p.Met1467Leu)
2g.25742119G>ACA425181305ASXL2c.4215C>T (p.Ala1405=)
c.4218C>T (p.Ala1406=)
c.4134C>T (p.Ala1378=)
c.2667C>T (p.Ala889=)
c.3852C>T (p.Ala1284=)
c.3438C>T (p.Ala1146=)
c.4044C>T (p.Ala1348=)
c.4398C>T (p.Ala1466=)
2g.25742119G>CCA425181306ASXL2c.4215C>G (p.Ala1405=)
c.4218C>G (p.Ala1406=)
c.4134C>G (p.Ala1378=)
c.2667C>G (p.Ala889=)
c.3852C>G (p.Ala1284=)
c.3438C>G (p.Ala1146=)
c.4044C>G (p.Ala1348=)
c.4398C>G (p.Ala1466=)
2g.25742119G>TCA425181307ASXL2c.4215C>A (p.Ala1405=)
c.4218C>A (p.Ala1406=)
c.4134C>A (p.Ala1378=)
c.2667C>A (p.Ala889=)
c.3852C>A (p.Ala1284=)
c.3438C>A (p.Ala1146=)
c.4044C>A (p.Ala1348=)
c.4398C>A (p.Ala1466=)
2g.25742120G>ACA1557333ASXL2c.4214C>T (p.Ala1405Val)
c.4217C>T (p.Ala1406Val)
c.4133C>T (p.Ala1378Val)
c.2666C>T (p.Ala889Val)
c.3851C>T (p.Ala1284Val)
c.3437C>T (p.Ala1146Val)
c.4043C>T (p.Ala1348Val)
c.4397C>T (p.Ala1466Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742120G>CCA346073640ASXL2c.4214C>G (p.Ala1405Gly)
c.4217C>G (p.Ala1406Gly)
c.4133C>G (p.Ala1378Gly)
c.2666C>G (p.Ala889Gly)
c.3851C>G (p.Ala1284Gly)
c.3437C>G (p.Ala1146Gly)
c.4043C>G (p.Ala1348Gly)
c.4397C>G (p.Ala1466Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.25742120G=CA1239490332ASXL2c.4214C= (p.Ala1405=)
c.4217C= (p.Ala1406=)
c.4133C= (p.Ala1378=)
c.2666C= (p.Ala889=)
c.3851C= (p.Ala1284=)
c.3437C= (p.Ala1146=)
c.4043C= (p.Ala1348=)
c.4397C= (p.Ala1466=)
2g.25742120G>TCA346073641ASXL2c.4214C>A (p.Ala1405Asp)
c.4217C>A (p.Ala1406Asp)
c.4133C>A (p.Ala1378Asp)
c.2666C>A (p.Ala889Asp)
c.3851C>A (p.Ala1284Asp)
c.3437C>A (p.Ala1146Asp)
c.4043C>A (p.Ala1348Asp)
c.4397C>A (p.Ala1466Asp)
2g.25742121C>ACA346073644ASXL2c.4213G>T (p.Ala1405Ser)
c.4216G>T (p.Ala1406Ser)
c.4132G>T (p.Ala1378Ser)
c.2665G>T (p.Ala889Ser)
c.3850G>T (p.Ala1284Ser)
c.3436G>T (p.Ala1146Ser)
c.4042G>T (p.Ala1348Ser)
c.4396G>T (p.Ala1466Ser)
2g.25742121C>GCA346073643ASXL2c.4213G>C (p.Ala1405Pro)
c.4216G>C (p.Ala1406Pro)
c.4132G>C (p.Ala1378Pro)
c.2665G>C (p.Ala889Pro)
c.3850G>C (p.Ala1284Pro)
c.3436G>C (p.Ala1146Pro)
c.4042G>C (p.Ala1348Pro)
c.4396G>C (p.Ala1466Pro)
2g.25742121C>TCA346073642ASXL2c.4213G>A (p.Ala1405Thr)
c.4216G>A (p.Ala1406Thr)
c.4132G>A (p.Ala1378Thr)
c.2665G>A (p.Ala889Thr)
c.3850G>A (p.Ala1284Thr)
c.3436G>A (p.Ala1146Thr)
c.4042G>A (p.Ala1348Thr)
c.4396G>A (p.Ala1466Thr)
2g.25742122T>ACA346073646ASXL2c.4212A>T (p.Lys1404Asn)
c.4215A>T (p.Lys1405Asn)
c.4131A>T (p.Lys1377Asn)
c.2664A>T (p.Lys888Asn)
c.3849A>T (p.Lys1283Asn)
c.3435A>T (p.Lys1145Asn)
c.4041A>T (p.Lys1347Asn)
c.4395A>T (p.Lys1465Asn)
2g.25742122T>CCA425181309ASXL2c.4212A>G (p.Lys1404=)
c.4215A>G (p.Lys1405=)
c.4131A>G (p.Lys1377=)
c.2664A>G (p.Lys888=)
c.3849A>G (p.Lys1283=)
c.3435A>G (p.Lys1145=)
c.4041A>G (p.Lys1347=)
c.4395A>G (p.Lys1465=)
 dbSNP gnomAD v2 gnomAD v4
2g.25742122T>GCA346073645ASXL2c.4212A>C (p.Lys1404Asn)
c.4215A>C (p.Lys1405Asn)
c.4131A>C (p.Lys1377Asn)
c.2664A>C (p.Lys888Asn)
c.3849A>C (p.Lys1283Asn)
c.3435A>C (p.Lys1145Asn)
c.4041A>C (p.Lys1347Asn)
c.4395A>C (p.Lys1465Asn)
2g.25742122T=CA1239490333ASXL2c.4212A= (p.Lys1404=)
c.4215A= (p.Lys1405=)
c.4131A= (p.Lys1377=)
c.2664A= (p.Lys888=)
c.3849A= (p.Lys1283=)
c.3435A= (p.Lys1145=)
c.4041A= (p.Lys1347=)
c.4395A= (p.Lys1465=)
2g.25742123T>ACA346073647ASXL2c.4211A>T (p.Lys1404Ile)
c.4214A>T (p.Lys1405Ile)
c.4130A>T (p.Lys1377Ile)
c.2663A>T (p.Lys888Ile)
c.3848A>T (p.Lys1283Ile)
c.3434A>T (p.Lys1145Ile)
c.4040A>T (p.Lys1347Ile)
c.4394A>T (p.Lys1465Ile)
2g.25742123T>CCA346073648ASXL2c.4211A>G (p.Lys1404Arg)
c.4214A>G (p.Lys1405Arg)
c.4130A>G (p.Lys1377Arg)
c.2663A>G (p.Lys888Arg)
c.3848A>G (p.Lys1283Arg)
c.3434A>G (p.Lys1145Arg)
c.4040A>G (p.Lys1347Arg)
c.4394A>G (p.Lys1465Arg)
 gnomAD v4
2g.25742123T>GCA346073649ASXL2c.4211A>C (p.Lys1404Thr)
c.4214A>C (p.Lys1405Thr)
c.4130A>C (p.Lys1377Thr)
c.2663A>C (p.Lys888Thr)
c.3848A>C (p.Lys1283Thr)
c.3434A>C (p.Lys1145Thr)
c.4040A>C (p.Lys1347Thr)
c.4394A>C (p.Lys1465Thr)
2g.25742124T>ACA346073650ASXL2c.4210A>T (p.Lys1404Ter)
c.4213A>T (p.Lys1405Ter)
c.4129A>T (p.Lys1377Ter)
c.2662A>T (p.Lys888Ter)
c.3847A>T (p.Lys1283Ter)
c.3433A>T (p.Lys1145Ter)
c.4039A>T (p.Lys1347Ter)
c.4393A>T (p.Lys1465Ter)
2g.25742124T>CCA346073651ASXL2c.4210A>G (p.Lys1404Glu)
c.4213A>G (p.Lys1405Glu)
c.4129A>G (p.Lys1377Glu)
c.2662A>G (p.Lys888Glu)
c.3847A>G (p.Lys1283Glu)
c.3433A>G (p.Lys1145Glu)
c.4039A>G (p.Lys1347Glu)
c.4393A>G (p.Lys1465Glu)
2g.25742124T>GCA346073652ASXL2c.4210A>C (p.Lys1404Gln)
c.4213A>C (p.Lys1405Gln)
c.4129A>C (p.Lys1377Gln)
c.2662A>C (p.Lys888Gln)
c.3847A>C (p.Lys1283Gln)
c.3433A>C (p.Lys1145Gln)
c.4039A>C (p.Lys1347Gln)
c.4393A>C (p.Lys1465Gln)
2g.25742125C>ACA346073653ASXL2c.4209G>T (p.Leu1403Phe)
c.4212G>T (p.Leu1404Phe)
c.4128G>T (p.Leu1376Phe)
c.2661G>T (p.Leu887Phe)
c.3846G>T (p.Leu1282Phe)
c.3432G>T (p.Leu1144Phe)
c.4038G>T (p.Leu1346Phe)
c.4392G>T (p.Leu1464Phe)
2g.25742125C>GCA346073654ASXL2c.4209G>C (p.Leu1403Phe)
c.4212G>C (p.Leu1404Phe)
c.4128G>C (p.Leu1376Phe)
c.2661G>C (p.Leu887Phe)
c.3846G>C (p.Leu1282Phe)
c.3432G>C (p.Leu1144Phe)
c.4038G>C (p.Leu1346Phe)
c.4392G>C (p.Leu1464Phe)
2g.25742125C>TCA425181312ASXL2c.4209G>A (p.Leu1403=)
c.4212G>A (p.Leu1404=)
c.4128G>A (p.Leu1376=)
c.2661G>A (p.Leu887=)
c.3846G>A (p.Leu1282=)
c.3432G>A (p.Leu1144=)
c.4038G>A (p.Leu1346=)
c.4392G>A (p.Leu1464=)
2g.25742126A>CCA346073655ASXL2c.4208T>G (p.Leu1403Trp)
c.4211T>G (p.Leu1404Trp)
c.4127T>G (p.Leu1376Trp)
c.2660T>G (p.Leu887Trp)
c.3845T>G (p.Leu1282Trp)
c.3431T>G (p.Leu1144Trp)
c.4037T>G (p.Leu1346Trp)
c.4391T>G (p.Leu1464Trp)
2g.25742126A>GCA346073656ASXL2c.4208T>C (p.Leu1403Ser)
c.4211T>C (p.Leu1404Ser)
c.4127T>C (p.Leu1376Ser)
c.2660T>C (p.Leu887Ser)
c.3845T>C (p.Leu1282Ser)
c.3431T>C (p.Leu1144Ser)
c.4037T>C (p.Leu1346Ser)
c.4391T>C (p.Leu1464Ser)
2g.25742126A>TCA346073657ASXL2c.4208T>A (p.Leu1403Ter)
c.4211T>A (p.Leu1404Ter)
c.4127T>A (p.Leu1376Ter)
c.2660T>A (p.Leu887Ter)
c.3845T>A (p.Leu1282Ter)
c.3431T>A (p.Leu1144Ter)
c.4037T>A (p.Leu1346Ter)
c.4391T>A (p.Leu1464Ter)
2g.25742127A>CCA346073658ASXL2c.4207T>G (p.Leu1403Val)
c.4210T>G (p.Leu1404Val)
c.4126T>G (p.Leu1376Val)
c.2659T>G (p.Leu887Val)
c.3844T>G (p.Leu1282Val)
c.3430T>G (p.Leu1144Val)
c.4036T>G (p.Leu1346Val)
c.4390T>G (p.Leu1464Val)
2g.25742127A>GCA425181316ASXL2c.4207T>C (p.Leu1403=)
c.4210T>C (p.Leu1404=)
c.4126T>C (p.Leu1376=)
c.2659T>C (p.Leu887=)
c.3844T>C (p.Leu1282=)
c.3430T>C (p.Leu1144=)
c.4036T>C (p.Leu1346=)
c.4390T>C (p.Leu1464=)
2g.25742127A>TCA346073659ASXL2c.4207T>A (p.Leu1403Met)
c.4210T>A (p.Leu1404Met)
c.4126T>A (p.Leu1376Met)
c.2659T>A (p.Leu887Met)
c.3844T>A (p.Leu1282Met)
c.3430T>A (p.Leu1144Met)
c.4036T>A (p.Leu1346Met)
c.4390T>A (p.Leu1464Met)
 gnomAD v4
2g.25742128G>ACA425181317ASXL2c.4206C>T (p.Arg1402=)
c.4209C>T (p.Arg1403=)
c.4125C>T (p.Arg1375=)
c.2658C>T (p.Arg886=)
c.3843C>T (p.Arg1281=)
c.3429C>T (p.Arg1143=)
c.4035C>T (p.Arg1345=)
c.4389C>T (p.Arg1463=)
 dbSNP
2g.25742128G>CCA425181318ASXL2c.4206C>G (p.Arg1402=)
c.4209C>G (p.Arg1403=)
c.4125C>G (p.Arg1375=)
c.2658C>G (p.Arg886=)
c.3843C>G (p.Arg1281=)
c.3429C>G (p.Arg1143=)
c.4035C>G (p.Arg1345=)
c.4389C>G (p.Arg1463=)
2g.25742128G=CA1239490334ASXL2c.4206C= (p.Arg1402=)
c.4209C= (p.Arg1403=)
c.4125C= (p.Arg1375=)
c.2658C= (p.Arg886=)
c.3843C= (p.Arg1281=)
c.3429C= (p.Arg1143=)
c.4035C= (p.Arg1345=)
c.4389C= (p.Arg1463=)
2g.25742128G>TCA425181320ASXL2c.4206C>A (p.Arg1402=)
c.4209C>A (p.Arg1403=)
c.4125C>A (p.Arg1375=)
c.2658C>A (p.Arg886=)
c.3843C>A (p.Arg1281=)
c.3429C>A (p.Arg1143=)
c.4035C>A (p.Arg1345=)
c.4389C>A (p.Arg1463=)
2g.25742129C>ACA346073660ASXL2c.4205G>T (p.Arg1402Leu)
c.4208G>T (p.Arg1403Leu)
c.4124G>T (p.Arg1375Leu)
c.2657G>T (p.Arg886Leu)
c.3842G>T (p.Arg1281Leu)
c.3428G>T (p.Arg1143Leu)
c.4034G>T (p.Arg1345Leu)
c.4388G>T (p.Arg1463Leu)
2g.25742129C=CA1239490335ASXL2c.4205G= (p.Arg1402=)
c.4208G= (p.Arg1403=)
c.4124G= (p.Arg1375=)
c.2657G= (p.Arg886=)
c.3842G= (p.Arg1281=)
c.3428G= (p.Arg1143=)
c.4034G= (p.Arg1345=)
c.4388G= (p.Arg1463=)
2g.25742129C>GCA346073661ASXL2c.4205G>C (p.Arg1402Pro)
c.4208G>C (p.Arg1403Pro)
c.4124G>C (p.Arg1375Pro)
c.2657G>C (p.Arg886Pro)
c.3842G>C (p.Arg1281Pro)
c.3428G>C (p.Arg1143Pro)
c.4034G>C (p.Arg1345Pro)
c.4388G>C (p.Arg1463Pro)
2g.25742129C>TCA1557334ASXL2c.4205G>A (p.Arg1402His)
c.4208G>A (p.Arg1403His)
c.4124G>A (p.Arg1375His)
c.2657G>A (p.Arg886His)
c.3842G>A (p.Arg1281His)
c.3428G>A (p.Arg1143His)
c.4034G>A (p.Arg1345His)
c.4388G>A (p.Arg1463His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742130G>ACA1557336ASXL2c.4204C>T (p.Arg1402Cys)
c.4207C>T (p.Arg1403Cys)
c.4123C>T (p.Arg1375Cys)
c.2656C>T (p.Arg886Cys)
c.3841C>T (p.Arg1281Cys)
c.3427C>T (p.Arg1143Cys)
c.4033C>T (p.Arg1345Cys)
c.4387C>T (p.Arg1463Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.25742130G>CCA43734153ASXL2c.4204C>G (p.Arg1402Gly)
c.4207C>G (p.Arg1403Gly)
c.4123C>G (p.Arg1375Gly)
c.2656C>G (p.Arg886Gly)
c.3841C>G (p.Arg1281Gly)
c.3427C>G (p.Arg1143Gly)
c.4033C>G (p.Arg1345Gly)
c.4387C>G (p.Arg1463Gly)
 dbSNP gnomAD v4
2g.25742130G=CA1239490336ASXL2c.4204C= (p.Arg1402=)
c.4207C= (p.Arg1403=)
c.4123C= (p.Arg1375=)
c.2656C= (p.Arg886=)
c.3841C= (p.Arg1281=)
c.3427C= (p.Arg1143=)
c.4033C= (p.Arg1345=)
c.4387C= (p.Arg1463=)
2g.25742130G>TCA1557335ASXL2c.4204C>A (p.Arg1402Ser)
c.4207C>A (p.Arg1403Ser)
c.4123C>A (p.Arg1375Ser)
c.2656C>A (p.Arg886Ser)
c.3841C>A (p.Arg1281Ser)
c.3427C>A (p.Arg1143Ser)
c.4033C>A (p.Arg1345Ser)
c.4387C>A (p.Arg1463Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742131G>ACA425181323ASXL2c.4203C>T (p.Cys1401=)
c.4206C>T (p.Cys1402=)
c.4122C>T (p.Cys1374=)
c.2655C>T (p.Cys885=)
c.3840C>T (p.Cys1280=)
c.3426C>T (p.Cys1142=)
c.4032C>T (p.Cys1344=)
c.4386C>T (p.Cys1462=)
2g.25742131G>CCA346073662ASXL2c.4203C>G (p.Cys1401Trp)
c.4206C>G (p.Cys1402Trp)
c.4122C>G (p.Cys1374Trp)
c.2655C>G (p.Cys885Trp)
c.3840C>G (p.Cys1280Trp)
c.3426C>G (p.Cys1142Trp)
c.4032C>G (p.Cys1344Trp)
c.4386C>G (p.Cys1462Trp)
2g.25742131G>TCA346073663ASXL2c.4203C>A (p.Cys1401Ter)
c.4206C>A (p.Cys1402Ter)
c.4122C>A (p.Cys1374Ter)
c.2655C>A (p.Cys885Ter)
c.3840C>A (p.Cys1280Ter)
c.3426C>A (p.Cys1142Ter)
c.4032C>A (p.Cys1344Ter)
c.4386C>A (p.Cys1462Ter)
2g.25742132C>ACA346073664ASXL2c.4202G>T (p.Cys1401Phe)
c.4205G>T (p.Cys1402Phe)
c.4121G>T (p.Cys1374Phe)
c.2654G>T (p.Cys885Phe)
c.3839G>T (p.Cys1280Phe)
c.3425G>T (p.Cys1142Phe)
c.4031G>T (p.Cys1344Phe)
c.4385G>T (p.Cys1462Phe)
2g.25742132C>GCA346073665ASXL2c.4202G>C (p.Cys1401Ser)
c.4205G>C (p.Cys1402Ser)
c.4121G>C (p.Cys1374Ser)
c.2654G>C (p.Cys885Ser)
c.3839G>C (p.Cys1280Ser)
c.3425G>C (p.Cys1142Ser)
c.4031G>C (p.Cys1344Ser)
c.4385G>C (p.Cys1462Ser)
2g.25742132C>TCA346073666ASXL2c.4202G>A (p.Cys1401Tyr)
c.4205G>A (p.Cys1402Tyr)
c.4121G>A (p.Cys1374Tyr)
c.2654G>A (p.Cys885Tyr)
c.3839G>A (p.Cys1280Tyr)
c.3425G>A (p.Cys1142Tyr)
c.4031G>A (p.Cys1344Tyr)
c.4385G>A (p.Cys1462Tyr)
2g.25742133A>CCA346073667ASXL2c.4201T>G (p.Cys1401Gly)
c.4204T>G (p.Cys1402Gly)
c.4120T>G (p.Cys1374Gly)
c.2653T>G (p.Cys885Gly)
c.3838T>G (p.Cys1280Gly)
c.3424T>G (p.Cys1142Gly)
c.4030T>G (p.Cys1344Gly)
c.4384T>G (p.Cys1462Gly)
2g.25742133A>GCA346073668ASXL2c.4201T>C (p.Cys1401Arg)
c.4204T>C (p.Cys1402Arg)
c.4120T>C (p.Cys1374Arg)
c.2653T>C (p.Cys885Arg)
c.3838T>C (p.Cys1280Arg)
c.3424T>C (p.Cys1142Arg)
c.4030T>C (p.Cys1344Arg)
c.4384T>C (p.Cys1462Arg)
2g.25742133A>TCA346073669ASXL2c.4201T>A (p.Cys1401Ser)
c.4204T>A (p.Cys1402Ser)
c.4120T>A (p.Cys1374Ser)
c.2653T>A (p.Cys885Ser)
c.3838T>A (p.Cys1280Ser)
c.3424T>A (p.Cys1142Ser)
c.4030T>A (p.Cys1344Ser)
c.4384T>A (p.Cys1462Ser)
2g.25742134G>ACA1557337ASXL2c.4200C>T (p.Tyr1400=)
c.4203C>T (p.Tyr1401=)
c.4119C>T (p.Tyr1373=)
c.2652C>T (p.Tyr884=)
c.3837C>T (p.Tyr1279=)
c.3423C>T (p.Tyr1141=)
c.4029C>T (p.Tyr1343=)
c.4383C>T (p.Tyr1461=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742134G>CCA346073671ASXL2c.4200C>G (p.Tyr1400Ter)
c.4203C>G (p.Tyr1401Ter)
c.4119C>G (p.Tyr1373Ter)
c.2652C>G (p.Tyr884Ter)
c.3837C>G (p.Tyr1279Ter)
c.3423C>G (p.Tyr1141Ter)
c.4029C>G (p.Tyr1343Ter)
c.4383C>G (p.Tyr1461Ter)
2g.25742134G=CA1239490337ASXL2c.4200C= (p.Tyr1400=)
c.4203C= (p.Tyr1401=)
c.4119C= (p.Tyr1373=)
c.2652C= (p.Tyr884=)
c.3837C= (p.Tyr1279=)
c.3423C= (p.Tyr1141=)
c.4029C= (p.Tyr1343=)
c.4383C= (p.Tyr1461=)
2g.25742134G>TCA346073670ASXL2c.4200C>A (p.Tyr1400Ter)
c.4203C>A (p.Tyr1401Ter)
c.4119C>A (p.Tyr1373Ter)
c.2652C>A (p.Tyr884Ter)
c.3837C>A (p.Tyr1279Ter)
c.3423C>A (p.Tyr1141Ter)
c.4029C>A (p.Tyr1343Ter)
c.4383C>A (p.Tyr1461Ter)
2g.25742135T>ACA346073672ASXL2c.4199A>T (p.Tyr1400Phe)
c.4202A>T (p.Tyr1401Phe)
c.4118A>T (p.Tyr1373Phe)
c.2651A>T (p.Tyr884Phe)
c.3836A>T (p.Tyr1279Phe)
c.3422A>T (p.Tyr1141Phe)
c.4028A>T (p.Tyr1343Phe)
c.4382A>T (p.Tyr1461Phe)
2g.25742135T>CCA346073674ASXL2c.4199A>G (p.Tyr1400Cys)
c.4202A>G (p.Tyr1401Cys)
c.4118A>G (p.Tyr1373Cys)
c.2651A>G (p.Tyr884Cys)
c.3836A>G (p.Tyr1279Cys)
c.3422A>G (p.Tyr1141Cys)
c.4028A>G (p.Tyr1343Cys)
c.4382A>G (p.Tyr1461Cys)
 dbSNP gnomAD v3 gnomAD v4
2g.25742135T>GCA346073673ASXL2c.4199A>C (p.Tyr1400Ser)
c.4202A>C (p.Tyr1401Ser)
c.4118A>C (p.Tyr1373Ser)
c.2651A>C (p.Tyr884Ser)
c.3836A>C (p.Tyr1279Ser)
c.3422A>C (p.Tyr1141Ser)
c.4028A>C (p.Tyr1343Ser)
c.4382A>C (p.Tyr1461Ser)
2g.25742135T=CA1239490338ASXL2c.4199A= (p.Tyr1400=)
c.4202A= (p.Tyr1401=)
c.4118A= (p.Tyr1373=)
c.2651A= (p.Tyr884=)
c.3836A= (p.Tyr1279=)
c.3422A= (p.Tyr1141=)
c.4028A= (p.Tyr1343=)
c.4382A= (p.Tyr1461=)
2g.25742136A>CCA346073675ASXL2c.4198T>G (p.Tyr1400Asp)
c.4201T>G (p.Tyr1401Asp)
c.4117T>G (p.Tyr1373Asp)
c.2650T>G (p.Tyr884Asp)
c.3835T>G (p.Tyr1279Asp)
c.3421T>G (p.Tyr1141Asp)
c.4027T>G (p.Tyr1343Asp)
c.4381T>G (p.Tyr1461Asp)
 gnomAD v4
2g.25742136A>GCA346073677ASXL2c.4198T>C (p.Tyr1400His)
c.4201T>C (p.Tyr1401His)
c.4117T>C (p.Tyr1373His)
c.2650T>C (p.Tyr884His)
c.3835T>C (p.Tyr1279His)
c.3421T>C (p.Tyr1141His)
c.4027T>C (p.Tyr1343His)
c.4381T>C (p.Tyr1461His)
2g.25742136A>TCA346073676ASXL2c.4198T>A (p.Tyr1400Asn)
c.4201T>A (p.Tyr1401Asn)
c.4117T>A (p.Tyr1373Asn)
c.2650T>A (p.Tyr884Asn)
c.3835T>A (p.Tyr1279Asn)
c.3421T>A (p.Tyr1141Asn)
c.4027T>A (p.Tyr1343Asn)
c.4381T>A (p.Tyr1461Asn)
2g.25742137A>CCA346073678ASXL2c.4197T>G (p.Cys1399Trp)
c.4200T>G (p.Cys1400Trp)
c.4116T>G (p.Cys1372Trp)
c.2649T>G (p.Cys883Trp)
c.3834T>G (p.Cys1278Trp)
c.3420T>G (p.Cys1140Trp)
c.4026T>G (p.Cys1342Trp)
c.4380T>G (p.Cys1460Trp)
2g.25742137A>GCA425181329ASXL2c.4197T>C (p.Cys1399=)
c.4200T>C (p.Cys1400=)
c.4116T>C (p.Cys1372=)
c.2649T>C (p.Cys883=)
c.3834T>C (p.Cys1278=)
c.3420T>C (p.Cys1140=)
c.4026T>C (p.Cys1342=)
c.4380T>C (p.Cys1460=)
2g.25742137A>TCA346073679ASXL2c.4197T>A (p.Cys1399Ter)
c.4200T>A (p.Cys1400Ter)
c.4116T>A (p.Cys1372Ter)
c.2649T>A (p.Cys883Ter)
c.3834T>A (p.Cys1278Ter)
c.3420T>A (p.Cys1140Ter)
c.4026T>A (p.Cys1342Ter)
c.4380T>A (p.Cys1460Ter)
2g.25742138C>ACA346073680ASXL2c.4196G>T (p.Cys1399Phe)
c.4199G>T (p.Cys1400Phe)
c.4115G>T (p.Cys1372Phe)
c.2648G>T (p.Cys883Phe)
c.3833G>T (p.Cys1278Phe)
c.3419G>T (p.Cys1140Phe)
c.4025G>T (p.Cys1342Phe)
c.4379G>T (p.Cys1460Phe)
2g.25742138C>GCA346073681ASXL2c.4196G>C (p.Cys1399Ser)
c.4199G>C (p.Cys1400Ser)
c.4115G>C (p.Cys1372Ser)
c.2648G>C (p.Cys883Ser)
c.3833G>C (p.Cys1278Ser)
c.3419G>C (p.Cys1140Ser)
c.4025G>C (p.Cys1342Ser)
c.4379G>C (p.Cys1460Ser)
2g.25742138C>TCA346073682ASXL2c.4196G>A (p.Cys1399Tyr)
c.4199G>A (p.Cys1400Tyr)
c.4115G>A (p.Cys1372Tyr)
c.2648G>A (p.Cys883Tyr)
c.3833G>A (p.Cys1278Tyr)
c.3419G>A (p.Cys1140Tyr)
c.4025G>A (p.Cys1342Tyr)
c.4379G>A (p.Cys1460Tyr)
2g.25742139A>CCA346073683ASXL2c.4195T>G (p.Cys1399Gly)
c.4198T>G (p.Cys1400Gly)
c.4114T>G (p.Cys1372Gly)
c.2647T>G (p.Cys883Gly)
c.3832T>G (p.Cys1278Gly)
c.3418T>G (p.Cys1140Gly)
c.4024T>G (p.Cys1342Gly)
c.4378T>G (p.Cys1460Gly)
2g.25742139A>GCA346073684ASXL2c.4195T>C (p.Cys1399Arg)
c.4198T>C (p.Cys1400Arg)
c.4114T>C (p.Cys1372Arg)
c.2647T>C (p.Cys883Arg)
c.3832T>C (p.Cys1278Arg)
c.3418T>C (p.Cys1140Arg)
c.4024T>C (p.Cys1342Arg)
c.4378T>C (p.Cys1460Arg)
2g.25742139A>TCA346073685ASXL2c.4195T>A (p.Cys1399Ser)
c.4198T>A (p.Cys1400Ser)
c.4114T>A (p.Cys1372Ser)
c.2647T>A (p.Cys883Ser)
c.3832T>A (p.Cys1278Ser)
c.3418T>A (p.Cys1140Ser)
c.4024T>A (p.Cys1342Ser)
c.4378T>A (p.Cys1460Ser)
2g.25742140T>ACA346073686ASXL2c.4194A>T (p.Lys1398Asn)
c.4197A>T (p.Lys1399Asn)
c.4113A>T (p.Lys1371Asn)
c.2646A>T (p.Lys882Asn)
c.3831A>T (p.Lys1277Asn)
c.3417A>T (p.Lys1139Asn)
c.4023A>T (p.Lys1341Asn)
c.4377A>T (p.Lys1459Asn)
2g.25742140T>CCA425181331ASXL2c.4194A>G (p.Lys1398=)
c.4197A>G (p.Lys1399=)
c.4113A>G (p.Lys1371=)
c.2646A>G (p.Lys882=)
c.3831A>G (p.Lys1277=)
c.3417A>G (p.Lys1139=)
c.4023A>G (p.Lys1341=)
c.4377A>G (p.Lys1459=)
2g.25742140T>GCA346073687ASXL2c.4194A>C (p.Lys1398Asn)
c.4197A>C (p.Lys1399Asn)
c.4113A>C (p.Lys1371Asn)
c.2646A>C (p.Lys882Asn)
c.3831A>C (p.Lys1277Asn)
c.3417A>C (p.Lys1139Asn)
c.4023A>C (p.Lys1341Asn)
c.4377A>C (p.Lys1459Asn)
2g.25742141T>ACA346073688ASXL2c.4193A>T (p.Lys1398Ile)
c.4196A>T (p.Lys1399Ile)
c.4112A>T (p.Lys1371Ile)
c.2645A>T (p.Lys882Ile)
c.3830A>T (p.Lys1277Ile)
c.3416A>T (p.Lys1139Ile)
c.4022A>T (p.Lys1341Ile)
c.4376A>T (p.Lys1459Ile)
2g.25742141T>CCA346073689ASXL2c.4193A>G (p.Lys1398Arg)
c.4196A>G (p.Lys1399Arg)
c.4112A>G (p.Lys1371Arg)
c.2645A>G (p.Lys882Arg)
c.3830A>G (p.Lys1277Arg)
c.3416A>G (p.Lys1139Arg)
c.4022A>G (p.Lys1341Arg)
c.4376A>G (p.Lys1459Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.25742141T>GCA346073690ASXL2c.4193A>C (p.Lys1398Thr)
c.4196A>C (p.Lys1399Thr)
c.4112A>C (p.Lys1371Thr)
c.2645A>C (p.Lys882Thr)
c.3830A>C (p.Lys1277Thr)
c.3416A>C (p.Lys1139Thr)
c.4022A>C (p.Lys1341Thr)
c.4376A>C (p.Lys1459Thr)
2g.25742141T=CA1239490339ASXL2c.4193A= (p.Lys1398=)
c.4196A= (p.Lys1399=)
c.4112A= (p.Lys1371=)
c.2645A= (p.Lys882=)
c.3830A= (p.Lys1277=)
c.3416A= (p.Lys1139=)
c.4022A= (p.Lys1341=)
c.4376A= (p.Lys1459=)
2g.25742142T>ACA346073691ASXL2c.4192A>T (p.Lys1398Ter)
c.4195A>T (p.Lys1399Ter)
c.4111A>T (p.Lys1371Ter)
c.2644A>T (p.Lys882Ter)
c.3829A>T (p.Lys1277Ter)
c.3415A>T (p.Lys1139Ter)
c.4021A>T (p.Lys1341Ter)
c.4375A>T (p.Lys1459Ter)
2g.25742142T>CCA346073693ASXL2c.4192A>G (p.Lys1398Glu)
c.4195A>G (p.Lys1399Glu)
c.4111A>G (p.Lys1371Glu)
c.2644A>G (p.Lys882Glu)
c.3829A>G (p.Lys1277Glu)
c.3415A>G (p.Lys1139Glu)
c.4021A>G (p.Lys1341Glu)
c.4375A>G (p.Lys1459Glu)
2g.25742142T>GCA346073692ASXL2c.4192A>C (p.Lys1398Gln)
c.4195A>C (p.Lys1399Gln)
c.4111A>C (p.Lys1371Gln)
c.2644A>C (p.Lys882Gln)
c.3829A>C (p.Lys1277Gln)
c.3415A>C (p.Lys1139Gln)
c.4021A>C (p.Lys1341Gln)
c.4375A>C (p.Lys1459Gln)
2g.25742143C>ACA425181332ASXL2c.4191G>T (p.Ser1397=)
c.4194G>T (p.Ser1398=)
c.4110G>T (p.Ser1370=)
c.2643G>T (p.Ser881=)
c.3828G>T (p.Ser1276=)
c.3414G>T (p.Ser1138=)
c.4020G>T (p.Ser1340=)
c.4374G>T (p.Ser1458=)
2g.25742143C=CA1239490340ASXL2c.4191G= (p.Ser1397=)
c.4194G= (p.Ser1398=)
c.4110G= (p.Ser1370=)
c.2643G= (p.Ser881=)
c.3828G= (p.Ser1276=)
c.3414G= (p.Ser1138=)
c.4020G= (p.Ser1340=)
c.4374G= (p.Ser1458=)
2g.25742143C>GCA425181333ASXL2c.4191G>C (p.Ser1397=)
c.4194G>C (p.Ser1398=)
c.4110G>C (p.Ser1370=)
c.2643G>C (p.Ser881=)
c.3828G>C (p.Ser1276=)
c.3414G>C (p.Ser1138=)
c.4020G>C (p.Ser1340=)
c.4374G>C (p.Ser1458=)
2g.25742143C>TCA1557338ASXL2c.4191G>A (p.Ser1397=)
c.4194G>A (p.Ser1398=)
c.4110G>A (p.Ser1370=)
c.2643G>A (p.Ser881=)
c.3828G>A (p.Ser1276=)
c.3414G>A (p.Ser1138=)
c.4020G>A (p.Ser1340=)
c.4374G>A (p.Ser1458=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742144G>ACA1557339ASXL2c.4190C>T (p.Ser1397Leu)
c.4193C>T (p.Ser1398Leu)
c.4109C>T (p.Ser1370Leu)
c.2642C>T (p.Ser881Leu)
c.3827C>T (p.Ser1276Leu)
c.3413C>T (p.Ser1138Leu)
c.4019C>T (p.Ser1340Leu)
c.4373C>T (p.Ser1458Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742144G>CCA346073694ASXL2c.4190C>G (p.Ser1397Trp)
c.4193C>G (p.Ser1398Trp)
c.4109C>G (p.Ser1370Trp)
c.2642C>G (p.Ser881Trp)
c.3827C>G (p.Ser1276Trp)
c.3413C>G (p.Ser1138Trp)
c.4019C>G (p.Ser1340Trp)
c.4373C>G (p.Ser1458Trp)
 dbSNP
2g.25742144G=CA1239490341ASXL2c.4190C= (p.Ser1397=)
c.4193C= (p.Ser1398=)
c.4109C= (p.Ser1370=)
c.2642C= (p.Ser881=)
c.3827C= (p.Ser1276=)
c.3413C= (p.Ser1138=)
c.4019C= (p.Ser1340=)
c.4373C= (p.Ser1458=)
2g.25742144G>TCA346073695ASXL2c.4190C>A (p.Ser1397Ter)
c.4193C>A (p.Ser1398Ter)
c.4109C>A (p.Ser1370Ter)
c.2642C>A (p.Ser881Ter)
c.3827C>A (p.Ser1276Ter)
c.3413C>A (p.Ser1138Ter)
c.4019C>A (p.Ser1340Ter)
c.4373C>A (p.Ser1458Ter)
2g.25742145A=CA1239490342ASXL2c.4189T= (p.Ser1397=)
c.4192T= (p.Ser1398=)
c.4108T= (p.Ser1370=)
c.2641T= (p.Ser881=)
c.3826T= (p.Ser1276=)
c.3412T= (p.Ser1138=)
c.4018T= (p.Ser1340=)
c.4372T= (p.Ser1458=)
2g.25742145A>CCA346073696ASXL2c.4189T>G (p.Ser1397Ala)
c.4192T>G (p.Ser1398Ala)
c.4108T>G (p.Ser1370Ala)
c.2641T>G (p.Ser881Ala)
c.3826T>G (p.Ser1276Ala)
c.3412T>G (p.Ser1138Ala)
c.4018T>G (p.Ser1340Ala)
c.4372T>G (p.Ser1458Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.25742145A>GCA346073697ASXL2c.4189T>C (p.Ser1397Pro)
c.4192T>C (p.Ser1398Pro)
c.4108T>C (p.Ser1370Pro)
c.2641T>C (p.Ser881Pro)
c.3826T>C (p.Ser1276Pro)
c.3412T>C (p.Ser1138Pro)
c.4018T>C (p.Ser1340Pro)
c.4372T>C (p.Ser1458Pro)
2g.25742145A>TCA346073698ASXL2c.4189T>A (p.Ser1397Thr)
c.4192T>A (p.Ser1398Thr)
c.4108T>A (p.Ser1370Thr)
c.2641T>A (p.Ser881Thr)
c.3826T>A (p.Ser1276Thr)
c.3412T>A (p.Ser1138Thr)
c.4018T>A (p.Ser1340Thr)
c.4372T>A (p.Ser1458Thr)
2g.25742146A>CCA425181338ASXL2c.4188T>G (p.Pro1396=)
c.4191T>G (p.Pro1397=)
c.4107T>G (p.Pro1369=)
c.2640T>G (p.Pro880=)
c.3825T>G (p.Pro1275=)
c.3411T>G (p.Pro1137=)
c.4017T>G (p.Pro1339=)
c.4371T>G (p.Pro1457=)
2g.25742146A>GCA425181339ASXL2c.4188T>C (p.Pro1396=)
c.4191T>C (p.Pro1397=)
c.4107T>C (p.Pro1369=)
c.2640T>C (p.Pro880=)
c.3825T>C (p.Pro1275=)
c.3411T>C (p.Pro1137=)
c.4017T>C (p.Pro1339=)
c.4371T>C (p.Pro1457=)
2g.25742146A>TCA425181340ASXL2c.4188T>A (p.Pro1396=)
c.4191T>A (p.Pro1397=)
c.4107T>A (p.Pro1369=)
c.2640T>A (p.Pro880=)
c.3825T>A (p.Pro1275=)
c.3411T>A (p.Pro1137=)
c.4017T>A (p.Pro1339=)
c.4371T>A (p.Pro1457=)
2g.25742147G>ACA346073699ASXL2c.4187C>T (p.Pro1396Leu)
c.4190C>T (p.Pro1397Leu)
c.4106C>T (p.Pro1369Leu)
c.2639C>T (p.Pro880Leu)
c.3824C>T (p.Pro1275Leu)
c.3410C>T (p.Pro1137Leu)
c.4016C>T (p.Pro1339Leu)
c.4370C>T (p.Pro1457Leu)
2g.25742147G>CCA346073700ASXL2c.4187C>G (p.Pro1396Arg)
c.4190C>G (p.Pro1397Arg)
c.4106C>G (p.Pro1369Arg)
c.2639C>G (p.Pro880Arg)
c.3824C>G (p.Pro1275Arg)
c.3410C>G (p.Pro1137Arg)
c.4016C>G (p.Pro1339Arg)
c.4370C>G (p.Pro1457Arg)
2g.25742147G>TCA346073701ASXL2c.4187C>A (p.Pro1396His)
c.4190C>A (p.Pro1397His)
c.4106C>A (p.Pro1369His)
c.2639C>A (p.Pro880His)
c.3824C>A (p.Pro1275His)
c.3410C>A (p.Pro1137His)
c.4016C>A (p.Pro1339His)
c.4370C>A (p.Pro1457His)
2g.25742148G>ACA346073704ASXL2c.4186C>T (p.Pro1396Ser)
c.4189C>T (p.Pro1397Ser)
c.4105C>T (p.Pro1369Ser)
c.2638C>T (p.Pro880Ser)
c.3823C>T (p.Pro1275Ser)
c.3409C>T (p.Pro1137Ser)
c.4015C>T (p.Pro1339Ser)
c.4369C>T (p.Pro1457Ser)
2g.25742148G>CCA346073703ASXL2c.4186C>G (p.Pro1396Ala)
c.4189C>G (p.Pro1397Ala)
c.4105C>G (p.Pro1369Ala)
c.2638C>G (p.Pro880Ala)
c.3823C>G (p.Pro1275Ala)
c.3409C>G (p.Pro1137Ala)
c.4015C>G (p.Pro1339Ala)
c.4369C>G (p.Pro1457Ala)
2g.25742148G>TCA346073702ASXL2c.4186C>A (p.Pro1396Thr)
c.4189C>A (p.Pro1397Thr)
c.4105C>A (p.Pro1369Thr)
c.2638C>A (p.Pro880Thr)
c.3823C>A (p.Pro1275Thr)
c.3409C>A (p.Pro1137Thr)
c.4015C>A (p.Pro1339Thr)
c.4369C>A (p.Pro1457Thr)
2g.25742149C>ACA425181341ASXL2c.4185G>T (p.Thr1395=)
c.4188G>T (p.Thr1396=)
c.4104G>T (p.Thr1368=)
c.2637G>T (p.Thr879=)
c.3822G>T (p.Thr1274=)
c.3408G>T (p.Thr1136=)
c.4014G>T (p.Thr1338=)
c.4368G>T (p.Thr1456=)
 dbSNP gnomAD v2 gnomAD v4
2g.25742149C=CA1239490343ASXL2c.4185G= (p.Thr1395=)
c.4188G= (p.Thr1396=)
c.4104G= (p.Thr1368=)
c.2637G= (p.Thr879=)
c.3822G= (p.Thr1274=)
c.3408G= (p.Thr1136=)
c.4014G= (p.Thr1338=)
c.4368G= (p.Thr1456=)
2g.25742149C>GCA425181343ASXL2c.4185G>C (p.Thr1395=)
c.4188G>C (p.Thr1396=)
c.4104G>C (p.Thr1368=)
c.2637G>C (p.Thr879=)
c.3822G>C (p.Thr1274=)
c.3408G>C (p.Thr1136=)
c.4014G>C (p.Thr1338=)
c.4368G>C (p.Thr1456=)
2g.25742149C>TCA1557340ASXL2c.4185G>A (p.Thr1395=)
c.4188G>A (p.Thr1396=)
c.4104G>A (p.Thr1368=)
c.2637G>A (p.Thr879=)
c.3822G>A (p.Thr1274=)
c.3408G>A (p.Thr1136=)
c.4014G>A (p.Thr1338=)
c.4368G>A (p.Thr1456=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742150G>ACA1557341ASXL2c.4184C>T (p.Thr1395Met)
c.4187C>T (p.Thr1396Met)
c.4103C>T (p.Thr1368Met)
c.2636C>T (p.Thr879Met)
c.3821C>T (p.Thr1274Met)
c.3407C>T (p.Thr1136Met)
c.4013C>T (p.Thr1338Met)
c.4367C>T (p.Thr1456Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742150G>CCA346073705ASXL2c.4184C>G (p.Thr1395Arg)
c.4187C>G (p.Thr1396Arg)
c.4103C>G (p.Thr1368Arg)
c.2636C>G (p.Thr879Arg)
c.3821C>G (p.Thr1274Arg)
c.3407C>G (p.Thr1136Arg)
c.4013C>G (p.Thr1338Arg)
c.4367C>G (p.Thr1456Arg)
2g.25742150G=CA1239490344ASXL2c.4184C= (p.Thr1395=)
c.4187C= (p.Thr1396=)
c.4103C= (p.Thr1368=)
c.2636C= (p.Thr879=)
c.3821C= (p.Thr1274=)
c.3407C= (p.Thr1136=)
c.4013C= (p.Thr1338=)
c.4367C= (p.Thr1456=)
2g.25742150G>TCA346073706ASXL2c.4184C>A (p.Thr1395Lys)
c.4187C>A (p.Thr1396Lys)
c.4103C>A (p.Thr1368Lys)
c.2636C>A (p.Thr879Lys)
c.3821C>A (p.Thr1274Lys)
c.3407C>A (p.Thr1136Lys)
c.4013C>A (p.Thr1338Lys)
c.4367C>A (p.Thr1456Lys)
2g.25742151T>ACA346073707ASXL2c.4183A>T (p.Thr1395Ser)
c.4186A>T (p.Thr1396Ser)
c.4102A>T (p.Thr1368Ser)
c.2635A>T (p.Thr879Ser)
c.3820A>T (p.Thr1274Ser)
c.3406A>T (p.Thr1136Ser)
c.4012A>T (p.Thr1338Ser)
c.4366A>T (p.Thr1456Ser)
2g.25742151T>CCA346073708ASXL2c.4183A>G (p.Thr1395Ala)
c.4186A>G (p.Thr1396Ala)
c.4102A>G (p.Thr1368Ala)
c.2635A>G (p.Thr879Ala)
c.3820A>G (p.Thr1274Ala)
c.3406A>G (p.Thr1136Ala)
c.4012A>G (p.Thr1338Ala)
c.4366A>G (p.Thr1456Ala)
2g.25742151T>GCA346073709ASXL2c.4183A>C (p.Thr1395Pro)
c.4186A>C (p.Thr1396Pro)
c.4102A>C (p.Thr1368Pro)
c.2635A>C (p.Thr879Pro)
c.3820A>C (p.Thr1274Pro)
c.3406A>C (p.Thr1136Pro)
c.4012A>C (p.Thr1338Pro)
c.4366A>C (p.Thr1456Pro)
2g.25742152G>ACA425181344ASXL2c.4182C>T (p.Gly1394=)
c.4185C>T (p.Gly1395=)
c.4101C>T (p.Gly1367=)
c.2634C>T (p.Gly878=)
c.3819C>T (p.Gly1273=)
c.3405C>T (p.Gly1135=)
c.4011C>T (p.Gly1337=)
c.4365C>T (p.Gly1455=)
2g.25742152G>CCA425181346ASXL2c.4182C>G (p.Gly1394=)
c.4185C>G (p.Gly1395=)
c.4101C>G (p.Gly1367=)
c.2634C>G (p.Gly878=)
c.3819C>G (p.Gly1273=)
c.3405C>G (p.Gly1135=)
c.4011C>G (p.Gly1337=)
c.4365C>G (p.Gly1455=)
2g.25742152G>TCA425181348ASXL2c.4182C>A (p.Gly1394=)
c.4185C>A (p.Gly1395=)
c.4101C>A (p.Gly1367=)
c.2634C>A (p.Gly878=)
c.3819C>A (p.Gly1273=)
c.3405C>A (p.Gly1135=)
c.4011C>A (p.Gly1337=)
c.4365C>A (p.Gly1455=)
2g.25742153C>ACA346073710ASXL2c.4181G>T (p.Gly1394Val)
c.4184G>T (p.Gly1395Val)
c.4100G>T (p.Gly1367Val)
c.2633G>T (p.Gly878Val)
c.3818G>T (p.Gly1273Val)
c.3404G>T (p.Gly1135Val)
c.4010G>T (p.Gly1337Val)
c.4364G>T (p.Gly1455Val)
2g.25742153C>GCA346073711ASXL2c.4181G>C (p.Gly1394Ala)
c.4184G>C (p.Gly1395Ala)
c.4100G>C (p.Gly1367Ala)
c.2633G>C (p.Gly878Ala)
c.3818G>C (p.Gly1273Ala)
c.3404G>C (p.Gly1135Ala)
c.4010G>C (p.Gly1337Ala)
c.4364G>C (p.Gly1455Ala)
2g.25742153C>TCA346073712ASXL2c.4181G>A (p.Gly1394Asp)
c.4184G>A (p.Gly1395Asp)
c.4100G>A (p.Gly1367Asp)
c.2633G>A (p.Gly878Asp)
c.3818G>A (p.Gly1273Asp)
c.3404G>A (p.Gly1135Asp)
c.4010G>A (p.Gly1337Asp)
c.4364G>A (p.Gly1455Asp)
2g.25742154C>ACA346073713ASXL2c.4180G>T (p.Gly1394Cys)
c.4183G>T (p.Gly1395Cys)
c.4099G>T (p.Gly1367Cys)
c.2632G>T (p.Gly878Cys)
c.3817G>T (p.Gly1273Cys)
c.3403G>T (p.Gly1135Cys)
c.4009G>T (p.Gly1337Cys)
c.4363G>T (p.Gly1455Cys)
2g.25742154C>GCA346073714ASXL2c.4180G>C (p.Gly1394Arg)
c.4183G>C (p.Gly1395Arg)
c.4099G>C (p.Gly1367Arg)
c.2632G>C (p.Gly878Arg)
c.3817G>C (p.Gly1273Arg)
c.3403G>C (p.Gly1135Arg)
c.4009G>C (p.Gly1337Arg)
c.4363G>C (p.Gly1455Arg)
2g.25742154C>TCA346073715ASXL2c.4180G>A (p.Gly1394Ser)
c.4183G>A (p.Gly1395Ser)
c.4099G>A (p.Gly1367Ser)
c.2632G>A (p.Gly878Ser)
c.3817G>A (p.Gly1273Ser)
c.3403G>A (p.Gly1135Ser)
c.4009G>A (p.Gly1337Ser)
c.4363G>A (p.Gly1455Ser)
 ClinVar gnomAD v4
2g.25742155C>ACA346073717ASXL2c.4179G>T (p.Glu1393Asp)
c.4182G>T (p.Glu1394Asp)
c.4098G>T (p.Glu1366Asp)
c.2631G>T (p.Glu877Asp)
c.3816G>T (p.Glu1272Asp)
c.3402G>T (p.Glu1134Asp)
c.4008G>T (p.Glu1336Asp)
c.4362G>T (p.Glu1454Asp)
2g.25742155C>GCA346073716ASXL2c.4179G>C (p.Glu1393Asp)
c.4182G>C (p.Glu1394Asp)
c.4098G>C (p.Glu1366Asp)
c.2631G>C (p.Glu877Asp)
c.3816G>C (p.Glu1272Asp)
c.3402G>C (p.Glu1134Asp)
c.4008G>C (p.Glu1336Asp)
c.4362G>C (p.Glu1454Asp)
2g.25742155C>TCA425181350ASXL2c.4179G>A (p.Glu1393=)
c.4182G>A (p.Glu1394=)
c.4098G>A (p.Glu1366=)
c.2631G>A (p.Glu877=)
c.3816G>A (p.Glu1272=)
c.3402G>A (p.Glu1134=)
c.4008G>A (p.Glu1336=)
c.4362G>A (p.Glu1454=)
 gnomAD v4
2g.25742156T>ACA346073718ASXL2c.4178A>T (p.Glu1393Val)
c.4181A>T (p.Glu1394Val)
c.4097A>T (p.Glu1366Val)
c.2630A>T (p.Glu877Val)
c.3815A>T (p.Glu1272Val)
c.3401A>T (p.Glu1134Val)
c.4007A>T (p.Glu1336Val)
c.4361A>T (p.Glu1454Val)
2g.25742156T>CCA346073719ASXL2c.4178A>G (p.Glu1393Gly)
c.4181A>G (p.Glu1394Gly)
c.4097A>G (p.Glu1366Gly)
c.2630A>G (p.Glu877Gly)
c.3815A>G (p.Glu1272Gly)
c.3401A>G (p.Glu1134Gly)
c.4007A>G (p.Glu1336Gly)
c.4361A>G (p.Glu1454Gly)
 gnomAD v4
2g.25742156T>GCA346073720ASXL2c.4178A>C (p.Glu1393Ala)
c.4181A>C (p.Glu1394Ala)
c.4097A>C (p.Glu1366Ala)
c.2630A>C (p.Glu877Ala)
c.3815A>C (p.Glu1272Ala)
c.3401A>C (p.Glu1134Ala)
c.4007A>C (p.Glu1336Ala)
c.4361A>C (p.Glu1454Ala)
2g.25742157C>ACA346073721ASXL2c.4177G>T (p.Glu1393Ter)
c.4180G>T (p.Glu1394Ter)
c.4096G>T (p.Glu1366Ter)
c.2629G>T (p.Glu877Ter)
c.3814G>T (p.Glu1272Ter)
c.3400G>T (p.Glu1134Ter)
c.4006G>T (p.Glu1336Ter)
c.4360G>T (p.Glu1454Ter)
2g.25742157C>GCA346073722ASXL2c.4177G>C (p.Glu1393Gln)
c.4180G>C (p.Glu1394Gln)
c.4096G>C (p.Glu1366Gln)
c.2629G>C (p.Glu877Gln)
c.3814G>C (p.Glu1272Gln)
c.3400G>C (p.Glu1134Gln)
c.4006G>C (p.Glu1336Gln)
c.4360G>C (p.Glu1454Gln)
2g.25742157C>TCA346073723ASXL2c.4177G>A (p.Glu1393Lys)
c.4180G>A (p.Glu1394Lys)
c.4096G>A (p.Glu1366Lys)
c.2629G>A (p.Glu877Lys)
c.3814G>A (p.Glu1272Lys)
c.3400G>A (p.Glu1134Lys)
c.4006G>A (p.Glu1336Lys)
c.4360G>A (p.Glu1454Lys)
2g.25742158T>ACA425181353ASXL2c.4176A>T (p.Ile1392=)
c.4179A>T (p.Ile1393=)
c.4095A>T (p.Ile1365=)
c.2628A>T (p.Ile876=)
c.3813A>T (p.Ile1271=)
c.3399A>T (p.Ile1133=)
c.4005A>T (p.Ile1335=)
c.4359A>T (p.Ile1453=)
2g.25742158T>CCA346073724ASXL2c.4176A>G (p.Ile1392Met)
c.4179A>G (p.Ile1393Met)
c.4095A>G (p.Ile1365Met)
c.2628A>G (p.Ile876Met)
c.3813A>G (p.Ile1271Met)
c.3399A>G (p.Ile1133Met)
c.4005A>G (p.Ile1335Met)
c.4359A>G (p.Ile1453Met)
2g.25742158T>GCA425181351ASXL2c.4176A>C (p.Ile1392=)
c.4179A>C (p.Ile1393=)
c.4095A>C (p.Ile1365=)
c.2628A>C (p.Ile876=)
c.3813A>C (p.Ile1271=)
c.3399A>C (p.Ile1133=)
c.4005A>C (p.Ile1335=)
c.4359A>C (p.Ile1453=)
2g.25742159A=CA1239490345ASXL2c.4175T= (p.Ile1392=)
c.4178T= (p.Ile1393=)
c.4094T= (p.Ile1365=)
c.2627T= (p.Ile876=)
c.3812T= (p.Ile1271=)
c.3398T= (p.Ile1133=)
c.4004T= (p.Ile1335=)
c.4358T= (p.Ile1453=)
2g.25742159A>CCA346073725ASXL2c.4175T>G (p.Ile1392Arg)
c.4178T>G (p.Ile1393Arg)
c.4094T>G (p.Ile1365Arg)
c.2627T>G (p.Ile876Arg)
c.3812T>G (p.Ile1271Arg)
c.3398T>G (p.Ile1133Arg)
c.4004T>G (p.Ile1335Arg)
c.4358T>G (p.Ile1453Arg)
2g.25742159A>GCA346073726ASXL2c.4175T>C (p.Ile1392Thr)
c.4178T>C (p.Ile1393Thr)
c.4094T>C (p.Ile1365Thr)
c.2627T>C (p.Ile876Thr)
c.3812T>C (p.Ile1271Thr)
c.3398T>C (p.Ile1133Thr)
c.4004T>C (p.Ile1335Thr)
c.4358T>C (p.Ile1453Thr)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.25742159A>TCA346073727ASXL2c.4175T>A (p.Ile1392Lys)
c.4178T>A (p.Ile1393Lys)
c.4094T>A (p.Ile1365Lys)
c.2627T>A (p.Ile876Lys)
c.3812T>A (p.Ile1271Lys)
c.3398T>A (p.Ile1133Lys)
c.4004T>A (p.Ile1335Lys)
c.4358T>A (p.Ile1453Lys)
2g.25742160T>ACA346073728ASXL2c.4174A>T (p.Ile1392Leu)
c.4177A>T (p.Ile1393Leu)
c.4093A>T (p.Ile1365Leu)
c.2626A>T (p.Ile876Leu)
c.3811A>T (p.Ile1271Leu)
c.3397A>T (p.Ile1133Leu)
c.4003A>T (p.Ile1335Leu)
c.4357A>T (p.Ile1453Leu)
2g.25742160T>CCA1557342ASXL2c.4174A>G (p.Ile1392Val)
c.4177A>G (p.Ile1393Val)
c.4093A>G (p.Ile1365Val)
c.2626A>G (p.Ile876Val)
c.3811A>G (p.Ile1271Val)
c.3397A>G (p.Ile1133Val)
c.4003A>G (p.Ile1335Val)
c.4357A>G (p.Ile1453Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742160T>GCA346073729ASXL2c.4174A>C (p.Ile1392Leu)
c.4177A>C (p.Ile1393Leu)
c.4093A>C (p.Ile1365Leu)
c.2626A>C (p.Ile876Leu)
c.3811A>C (p.Ile1271Leu)
c.3397A>C (p.Ile1133Leu)
c.4003A>C (p.Ile1335Leu)
c.4357A>C (p.Ile1453Leu)
 gnomAD v4
2g.25742160T=CA1239490346ASXL2c.4174A= (p.Ile1392=)
c.4177A= (p.Ile1393=)
c.4093A= (p.Ile1365=)
c.2626A= (p.Ile876=)
c.3811A= (p.Ile1271=)
c.3397A= (p.Ile1133=)
c.4003A= (p.Ile1335=)
c.4357A= (p.Ile1453=)
2g.25742161G>ACA425181360ASXL2c.4173C>T (p.Ser1391=)
c.4176C>T (p.Ser1392=)
c.4092C>T (p.Ser1364=)
c.2625C>T (p.Ser875=)
c.3810C>T (p.Ser1270=)
c.3396C>T (p.Ser1132=)
c.4002C>T (p.Ser1334=)
c.4356C>T (p.Ser1452=)
2g.25742161G>CCA346073730ASXL2c.4173C>G (p.Ser1391Arg)
c.4176C>G (p.Ser1392Arg)
c.4092C>G (p.Ser1364Arg)
c.2625C>G (p.Ser875Arg)
c.3810C>G (p.Ser1270Arg)
c.3396C>G (p.Ser1132Arg)
c.4002C>G (p.Ser1334Arg)
c.4356C>G (p.Ser1452Arg)
2g.25742161G>TCA346073731ASXL2c.4173C>A (p.Ser1391Arg)
c.4176C>A (p.Ser1392Arg)
c.4092C>A (p.Ser1364Arg)
c.2625C>A (p.Ser875Arg)
c.3810C>A (p.Ser1270Arg)
c.3396C>A (p.Ser1132Arg)
c.4002C>A (p.Ser1334Arg)
c.4356C>A (p.Ser1452Arg)
2g.25742162C>ACA346073732ASXL2c.4172G>T (p.Ser1391Ile)
c.4175G>T (p.Ser1392Ile)
c.4091G>T (p.Ser1364Ile)
c.2624G>T (p.Ser875Ile)
c.3809G>T (p.Ser1270Ile)
c.3395G>T (p.Ser1132Ile)
c.4001G>T (p.Ser1334Ile)
c.4355G>T (p.Ser1452Ile)
2g.25742162C>GCA346073734ASXL2c.4172G>C (p.Ser1391Thr)
c.4175G>C (p.Ser1392Thr)
c.4091G>C (p.Ser1364Thr)
c.2624G>C (p.Ser875Thr)
c.3809G>C (p.Ser1270Thr)
c.3395G>C (p.Ser1132Thr)
c.4001G>C (p.Ser1334Thr)
c.4355G>C (p.Ser1452Thr)
2g.25742162C>TCA346073733ASXL2c.4172G>A (p.Ser1391Asn)
c.4175G>A (p.Ser1392Asn)
c.4091G>A (p.Ser1364Asn)
c.2624G>A (p.Ser875Asn)
c.3809G>A (p.Ser1270Asn)
c.3395G>A (p.Ser1132Asn)
c.4001G>A (p.Ser1334Asn)
c.4355G>A (p.Ser1452Asn)
2g.25742163T>ACA346073735ASXL2c.4171A>T (p.Ser1391Cys)
c.4174A>T (p.Ser1392Cys)
c.4090A>T (p.Ser1364Cys)
c.2623A>T (p.Ser875Cys)
c.3808A>T (p.Ser1270Cys)
c.3394A>T (p.Ser1132Cys)
c.4000A>T (p.Ser1334Cys)
c.4354A>T (p.Ser1452Cys)
2g.25742163T>CCA346073736ASXL2c.4171A>G (p.Ser1391Gly)
c.4174A>G (p.Ser1392Gly)
c.4090A>G (p.Ser1364Gly)
c.2623A>G (p.Ser875Gly)
c.3808A>G (p.Ser1270Gly)
c.3394A>G (p.Ser1132Gly)
c.4000A>G (p.Ser1334Gly)
c.4354A>G (p.Ser1452Gly)
 gnomAD v4
2g.25742163T>GCA346073737ASXL2c.4171A>C (p.Ser1391Arg)
c.4174A>C (p.Ser1392Arg)
c.4090A>C (p.Ser1364Arg)
c.2623A>C (p.Ser875Arg)
c.3808A>C (p.Ser1270Arg)
c.3394A>C (p.Ser1132Arg)
c.4000A>C (p.Ser1334Arg)
c.4354A>C (p.Ser1452Arg)
2g.25742164G>ACA425181361ASXL2c.4170C>T (p.Asn1390=)
c.4173C>T (p.Asn1391=)
c.4089C>T (p.Asn1363=)
c.2622C>T (p.Asn874=)
c.3807C>T (p.Asn1269=)
c.3393C>T (p.Asn1131=)
c.3999C>T (p.Asn1333=)
c.4353C>T (p.Asn1451=)
2g.25742164G>CCA1557343ASXL2c.4170C>G (p.Asn1390Lys)
c.4173C>G (p.Asn1391Lys)
c.4089C>G (p.Asn1363Lys)
c.2622C>G (p.Asn874Lys)
c.3807C>G (p.Asn1269Lys)
c.3393C>G (p.Asn1131Lys)
c.3999C>G (p.Asn1333Lys)
c.4353C>G (p.Asn1451Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742164G=CA1239490347ASXL2c.4170C= (p.Asn1390=)
c.4173C= (p.Asn1391=)
c.4089C= (p.Asn1363=)
c.2622C= (p.Asn874=)
c.3807C= (p.Asn1269=)
c.3393C= (p.Asn1131=)
c.3999C= (p.Asn1333=)
c.4353C= (p.Asn1451=)
2g.25742164G>TCA346073738ASXL2c.4170C>A (p.Asn1390Lys)
c.4173C>A (p.Asn1391Lys)
c.4089C>A (p.Asn1363Lys)
c.2622C>A (p.Asn874Lys)
c.3807C>A (p.Asn1269Lys)
c.3393C>A (p.Asn1131Lys)
c.3999C>A (p.Asn1333Lys)
c.4353C>A (p.Asn1451Lys)
2g.25742165T>ACA346073739ASXL2c.4169A>T (p.Asn1390Ile)
c.4172A>T (p.Asn1391Ile)
c.4088A>T (p.Asn1363Ile)
c.2621A>T (p.Asn874Ile)
c.3806A>T (p.Asn1269Ile)
c.3392A>T (p.Asn1131Ile)
c.3998A>T (p.Asn1333Ile)
c.4352A>T (p.Asn1451Ile)
2g.25742165T>CCA346073740ASXL2c.4169A>G (p.Asn1390Ser)
c.4172A>G (p.Asn1391Ser)
c.4088A>G (p.Asn1363Ser)
c.2621A>G (p.Asn874Ser)
c.3806A>G (p.Asn1269Ser)
c.3392A>G (p.Asn1131Ser)
c.3998A>G (p.Asn1333Ser)
c.4352A>G (p.Asn1451Ser)
 gnomAD v4
2g.25742165T>GCA346073741ASXL2c.4169A>C (p.Asn1390Thr)
c.4172A>C (p.Asn1391Thr)
c.4088A>C (p.Asn1363Thr)
c.2621A>C (p.Asn874Thr)
c.3806A>C (p.Asn1269Thr)
c.3392A>C (p.Asn1131Thr)
c.3998A>C (p.Asn1333Thr)
c.4352A>C (p.Asn1451Thr)
2g.25742166T>ACA346073742ASXL2c.4168A>T (p.Asn1390Tyr)
c.4171A>T (p.Asn1391Tyr)
c.4087A>T (p.Asn1363Tyr)
c.2620A>T (p.Asn874Tyr)
c.3805A>T (p.Asn1269Tyr)
c.3391A>T (p.Asn1131Tyr)
c.3997A>T (p.Asn1333Tyr)
c.4351A>T (p.Asn1451Tyr)
2g.25742166T>CCA346073743ASXL2c.4168A>G (p.Asn1390Asp)
c.4171A>G (p.Asn1391Asp)
c.4087A>G (p.Asn1363Asp)
c.2620A>G (p.Asn874Asp)
c.3805A>G (p.Asn1269Asp)
c.3391A>G (p.Asn1131Asp)
c.3997A>G (p.Asn1333Asp)
c.4351A>G (p.Asn1451Asp)
2g.25742166T>GCA346073744ASXL2c.4168A>C (p.Asn1390His)
c.4171A>C (p.Asn1391His)
c.4087A>C (p.Asn1363His)
c.2620A>C (p.Asn874His)
c.3805A>C (p.Asn1269His)
c.3391A>C (p.Asn1131His)
c.3997A>C (p.Asn1333His)
c.4351A>C (p.Asn1451His)
2g.25742167C>ACA346073745ASXL2c.4167G>T (p.Glu1389Asp)
c.4170G>T (p.Glu1390Asp)
c.4086G>T (p.Glu1362Asp)
c.2619G>T (p.Glu873Asp)
c.3804G>T (p.Glu1268Asp)
c.3390G>T (p.Glu1130Asp)
c.3996G>T (p.Glu1332Asp)
c.4350G>T (p.Glu1450Asp)
2g.25742167C=CA1239490348ASXL2c.4167G= (p.Glu1389=)
c.4170G= (p.Glu1390=)
c.4086G= (p.Glu1362=)
c.2619G= (p.Glu873=)
c.3804G= (p.Glu1268=)
c.3390G= (p.Glu1130=)
c.3996G= (p.Glu1332=)
c.4350G= (p.Glu1450=)
2g.25742167C>GCA1557344ASXL2c.4167G>C (p.Glu1389Asp)
c.4170G>C (p.Glu1390Asp)
c.4086G>C (p.Glu1362Asp)
c.2619G>C (p.Glu873Asp)
c.3804G>C (p.Glu1268Asp)
c.3390G>C (p.Glu1130Asp)
c.3996G>C (p.Glu1332Asp)
c.4350G>C (p.Glu1450Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742167C>TCA1557345ASXL2c.4167G>A (p.Glu1389=)
c.4170G>A (p.Glu1390=)
c.4086G>A (p.Glu1362=)
c.2619G>A (p.Glu873=)
c.3804G>A (p.Glu1268=)
c.3390G>A (p.Glu1130=)
c.3996G>A (p.Glu1332=)
c.4350G>A (p.Glu1450=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742168T>ACA346073746ASXL2c.4166A>T (p.Glu1389Val)
c.4169A>T (p.Glu1390Val)
c.4085A>T (p.Glu1362Val)
c.2618A>T (p.Glu873Val)
c.3803A>T (p.Glu1268Val)
c.3389A>T (p.Glu1130Val)
c.3995A>T (p.Glu1332Val)
c.4349A>T (p.Glu1450Val)
 gnomAD v4
2g.25742168T>CCA1557346ASXL2c.4166A>G (p.Glu1389Gly)
c.4169A>G (p.Glu1390Gly)
c.4085A>G (p.Glu1362Gly)
c.2618A>G (p.Glu873Gly)
c.3803A>G (p.Glu1268Gly)
c.3389A>G (p.Glu1130Gly)
c.3995A>G (p.Glu1332Gly)
c.4349A>G (p.Glu1450Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742168T>GCA346073747ASXL2c.4166A>C (p.Glu1389Ala)
c.4169A>C (p.Glu1390Ala)
c.4085A>C (p.Glu1362Ala)
c.2618A>C (p.Glu873Ala)
c.3803A>C (p.Glu1268Ala)
c.3389A>C (p.Glu1130Ala)
c.3995A>C (p.Glu1332Ala)
c.4349A>C (p.Glu1450Ala)
2g.25742168T=CA1239490349ASXL2c.4166A= (p.Glu1389=)
c.4169A= (p.Glu1390=)
c.4085A= (p.Glu1362=)
c.2618A= (p.Glu873=)
c.3803A= (p.Glu1268=)
c.3389A= (p.Glu1130=)
c.3995A= (p.Glu1332=)
c.4349A= (p.Glu1450=)
2g.25742169C>ACA346073748ASXL2c.4165G>T (p.Glu1389Ter)
c.4168G>T (p.Glu1390Ter)
c.4084G>T (p.Glu1362Ter)
c.2617G>T (p.Glu873Ter)
c.3802G>T (p.Glu1268Ter)
c.3388G>T (p.Glu1130Ter)
c.3994G>T (p.Glu1332Ter)
c.4348G>T (p.Glu1450Ter)
2g.25742169C=CA1239490350ASXL2c.4165G= (p.Glu1389=)
c.4168G= (p.Glu1390=)
c.4084G= (p.Glu1362=)
c.2617G= (p.Glu873=)
c.3802G= (p.Glu1268=)
c.3388G= (p.Glu1130=)
c.3994G= (p.Glu1332=)
c.4348G= (p.Glu1450=)
2g.25742169C>GCA346073749ASXL2c.4165G>C (p.Glu1389Gln)
c.4168G>C (p.Glu1390Gln)
c.4084G>C (p.Glu1362Gln)
c.2617G>C (p.Glu873Gln)
c.3802G>C (p.Glu1268Gln)
c.3388G>C (p.Glu1130Gln)
c.3994G>C (p.Glu1332Gln)
c.4348G>C (p.Glu1450Gln)
2g.25742169C>TCA1557347ASXL2c.4165G>A (p.Glu1389Lys)
c.4168G>A (p.Glu1390Lys)
c.4084G>A (p.Glu1362Lys)
c.2617G>A (p.Glu873Lys)
c.3802G>A (p.Glu1268Lys)
c.3388G>A (p.Glu1130Lys)
c.3994G>A (p.Glu1332Lys)
c.4348G>A (p.Glu1450Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742170T>ACA346073750ASXL2c.4164A>T (p.Glu1388Asp)
c.4167A>T (p.Glu1389Asp)
c.4083A>T (p.Glu1361Asp)
c.2616A>T (p.Glu872Asp)
c.3801A>T (p.Glu1267Asp)
c.3387A>T (p.Glu1129Asp)
c.3993A>T (p.Glu1331Asp)
c.4347A>T (p.Glu1449Asp)
2g.25742170T>CCA1557348ASXL2c.4164A>G (p.Glu1388=)
c.4167A>G (p.Glu1389=)
c.4083A>G (p.Glu1361=)
c.2616A>G (p.Glu872=)
c.3801A>G (p.Glu1267=)
c.3387A>G (p.Glu1129=)
c.3993A>G (p.Glu1331=)
c.4347A>G (p.Glu1449=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742170T>GCA346073751ASXL2c.4164A>C (p.Glu1388Asp)
c.4167A>C (p.Glu1389Asp)
c.4083A>C (p.Glu1361Asp)
c.2616A>C (p.Glu872Asp)
c.3801A>C (p.Glu1267Asp)
c.3387A>C (p.Glu1129Asp)
c.3993A>C (p.Glu1331Asp)
c.4347A>C (p.Glu1449Asp)
 dbSNP gnomAD v4
2g.25742170T=CA1239490351ASXL2c.4164A= (p.Glu1388=)
c.4167A= (p.Glu1389=)
c.4083A= (p.Glu1361=)
c.2616A= (p.Glu872=)
c.3801A= (p.Glu1267=)
c.3387A= (p.Glu1129=)
c.3993A= (p.Glu1331=)
c.4347A= (p.Glu1449=)
2g.25742171T>ACA346073752ASXL2c.4163A>T (p.Glu1388Val)
c.4166A>T (p.Glu1389Val)
c.4082A>T (p.Glu1361Val)
c.2615A>T (p.Glu872Val)
c.3800A>T (p.Glu1267Val)
c.3386A>T (p.Glu1129Val)
c.3992A>T (p.Glu1331Val)
c.4346A>T (p.Glu1449Val)
2g.25742171T>CCA346073753ASXL2c.4163A>G (p.Glu1388Gly)
c.4166A>G (p.Glu1389Gly)
c.4082A>G (p.Glu1361Gly)
c.2615A>G (p.Glu872Gly)
c.3800A>G (p.Glu1267Gly)
c.3386A>G (p.Glu1129Gly)
c.3992A>G (p.Glu1331Gly)
c.4346A>G (p.Glu1449Gly)
2g.25742171T>GCA346073754ASXL2c.4163A>C (p.Glu1388Ala)
c.4166A>C (p.Glu1389Ala)
c.4082A>C (p.Glu1361Ala)
c.2615A>C (p.Glu872Ala)
c.3800A>C (p.Glu1267Ala)
c.3386A>C (p.Glu1129Ala)
c.3992A>C (p.Glu1331Ala)
c.4346A>C (p.Glu1449Ala)
2g.25742172C>ACA346073755ASXL2c.4162G>T (p.Glu1388Ter)
c.4165G>T (p.Glu1389Ter)
c.4081G>T (p.Glu1361Ter)
c.2614G>T (p.Glu872Ter)
c.3799G>T (p.Glu1267Ter)
c.3385G>T (p.Glu1129Ter)
c.3991G>T (p.Glu1331Ter)
c.4345G>T (p.Glu1449Ter)
 COSMIC COSMIC
2g.25742172C=CA1239490352ASXL2c.4162G= (p.Glu1388=)
c.4165G= (p.Glu1389=)
c.4081G= (p.Glu1361=)
c.2614G= (p.Glu872=)
c.3799G= (p.Glu1267=)
c.3385G= (p.Glu1129=)
c.3991G= (p.Glu1331=)
c.4345G= (p.Glu1449=)
2g.25742172C>GCA1557349ASXL2c.4162G>C (p.Glu1388Gln)
c.4165G>C (p.Glu1389Gln)
c.4081G>C (p.Glu1361Gln)
c.2614G>C (p.Glu872Gln)
c.3799G>C (p.Glu1267Gln)
c.3385G>C (p.Glu1129Gln)
c.3991G>C (p.Glu1331Gln)
c.4345G>C (p.Glu1449Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.25742172C>TCA1557350ASXL2c.4162G>A (p.Glu1388Lys)
c.4165G>A (p.Glu1389Lys)
c.4081G>A (p.Glu1361Lys)
c.2614G>A (p.Glu872Lys)
c.3799G>A (p.Glu1267Lys)
c.3385G>A (p.Glu1129Lys)
c.3991G>A (p.Glu1331Lys)
c.4345G>A (p.Glu1449Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742173G>ACA1557351ASXL2c.4161C>T (p.Ser1387=)
c.4164C>T (p.Ser1388=)
c.4080C>T (p.Ser1360=)
c.2613C>T (p.Ser871=)
c.3798C>T (p.Ser1266=)
c.3384C>T (p.Ser1128=)
c.3990C>T (p.Ser1330=)
c.4344C>T (p.Ser1448=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742173G>CCA425181367ASXL2c.4161C>G (p.Ser1387=)
c.4164C>G (p.Ser1388=)
c.4080C>G (p.Ser1360=)
c.2613C>G (p.Ser871=)
c.3798C>G (p.Ser1266=)
c.3384C>G (p.Ser1128=)
c.3990C>G (p.Ser1330=)
c.4344C>G (p.Ser1448=)
 gnomAD v4
2g.25742173G=CA1239490353ASXL2c.4161C= (p.Ser1387=)
c.4164C= (p.Ser1388=)
c.4080C= (p.Ser1360=)
c.2613C= (p.Ser871=)
c.3798C= (p.Ser1266=)
c.3384C= (p.Ser1128=)
c.3990C= (p.Ser1330=)
c.4344C= (p.Ser1448=)
2g.25742173G>TCA425181368ASXL2c.4161C>A (p.Ser1387=)
c.4164C>A (p.Ser1388=)
c.4080C>A (p.Ser1360=)
c.2613C>A (p.Ser871=)
c.3798C>A (p.Ser1266=)
c.3384C>A (p.Ser1128=)
c.3990C>A (p.Ser1330=)
c.4344C>A (p.Ser1448=)
2g.25742174G>ACA346073756ASXL2c.4160C>T (p.Ser1387Phe)
c.4163C>T (p.Ser1388Phe)
c.4079C>T (p.Ser1360Phe)
c.2612C>T (p.Ser871Phe)
c.3797C>T (p.Ser1266Phe)
c.3383C>T (p.Ser1128Phe)
c.3989C>T (p.Ser1330Phe)
c.4343C>T (p.Ser1448Phe)
2g.25742174G>CCA346073757ASXL2c.4160C>G (p.Ser1387Cys)
c.4163C>G (p.Ser1388Cys)
c.4079C>G (p.Ser1360Cys)
c.2612C>G (p.Ser871Cys)
c.3797C>G (p.Ser1266Cys)
c.3383C>G (p.Ser1128Cys)
c.3989C>G (p.Ser1330Cys)
c.4343C>G (p.Ser1448Cys)
2g.25742174G>TCA346073758ASXL2c.4160C>A (p.Ser1387Tyr)
c.4163C>A (p.Ser1388Tyr)
c.4079C>A (p.Ser1360Tyr)
c.2612C>A (p.Ser871Tyr)
c.3797C>A (p.Ser1266Tyr)
c.3383C>A (p.Ser1128Tyr)
c.3989C>A (p.Ser1330Tyr)
c.4343C>A (p.Ser1448Tyr)
2g.25742175A>CCA346073759ASXL2c.4159T>G (p.Ser1387Ala)
c.4162T>G (p.Ser1388Ala)
c.4078T>G (p.Ser1360Ala)
c.2611T>G (p.Ser871Ala)
c.3796T>G (p.Ser1266Ala)
c.3382T>G (p.Ser1128Ala)
c.3988T>G (p.Ser1330Ala)
c.4342T>G (p.Ser1448Ala)
2g.25742175A>GCA346073760ASXL2c.4159T>C (p.Ser1387Pro)
c.4162T>C (p.Ser1388Pro)
c.4078T>C (p.Ser1360Pro)
c.2611T>C (p.Ser871Pro)
c.3796T>C (p.Ser1266Pro)
c.3382T>C (p.Ser1128Pro)
c.3988T>C (p.Ser1330Pro)
c.4342T>C (p.Ser1448Pro)
 dbSNP
2g.25742175A>TCA346073761ASXL2c.4159T>A (p.Ser1387Thr)
c.4162T>A (p.Ser1388Thr)
c.4078T>A (p.Ser1360Thr)
c.2611T>A (p.Ser871Thr)
c.3796T>A (p.Ser1266Thr)
c.3382T>A (p.Ser1128Thr)
c.3988T>A (p.Ser1330Thr)
c.4342T>A (p.Ser1448Thr)
2g.25742176G>ACA425181369ASXL2c.4158C>T (p.Phe1386=)
c.4161C>T (p.Phe1387=)
c.4077C>T (p.Phe1359=)
c.2610C>T (p.Phe870=)
c.3795C>T (p.Phe1265=)
c.3381C>T (p.Phe1127=)
c.3987C>T (p.Phe1329=)
c.4341C>T (p.Phe1447=)
 COSMIC COSMIC
2g.25742176G>CCA346073762ASXL2c.4158C>G (p.Phe1386Leu)
c.4161C>G (p.Phe1387Leu)
c.4077C>G (p.Phe1359Leu)
c.2610C>G (p.Phe870Leu)
c.3795C>G (p.Phe1265Leu)
c.3381C>G (p.Phe1127Leu)
c.3987C>G (p.Phe1329Leu)
c.4341C>G (p.Phe1447Leu)
2g.25742176G>TCA346073763ASXL2c.4158C>A (p.Phe1386Leu)
c.4161C>A (p.Phe1387Leu)
c.4077C>A (p.Phe1359Leu)
c.2610C>A (p.Phe870Leu)
c.3795C>A (p.Phe1265Leu)
c.3381C>A (p.Phe1127Leu)
c.3987C>A (p.Phe1329Leu)
c.4341C>A (p.Phe1447Leu)
 gnomAD v4
2g.25742177A>CCA346073764ASXL2c.4157T>G (p.Phe1386Cys)
c.4160T>G (p.Phe1387Cys)
c.4076T>G (p.Phe1359Cys)
c.2609T>G (p.Phe870Cys)
c.3794T>G (p.Phe1265Cys)
c.3380T>G (p.Phe1127Cys)
c.3986T>G (p.Phe1329Cys)
c.4340T>G (p.Phe1447Cys)
2g.25742177A>GCA346073765ASXL2c.4157T>C (p.Phe1386Ser)
c.4160T>C (p.Phe1387Ser)
c.4076T>C (p.Phe1359Ser)
c.2609T>C (p.Phe870Ser)
c.3794T>C (p.Phe1265Ser)
c.3380T>C (p.Phe1127Ser)
c.3986T>C (p.Phe1329Ser)
c.4340T>C (p.Phe1447Ser)
2g.25742177A>TCA346073766ASXL2c.4157T>A (p.Phe1386Tyr)
c.4160T>A (p.Phe1387Tyr)
c.4076T>A (p.Phe1359Tyr)
c.2609T>A (p.Phe870Tyr)
c.3794T>A (p.Phe1265Tyr)
c.3380T>A (p.Phe1127Tyr)
c.3986T>A (p.Phe1329Tyr)
c.4340T>A (p.Phe1447Tyr)
2g.25742178A>CCA346073768ASXL2c.4156T>G (p.Phe1386Val)
c.4159T>G (p.Phe1387Val)
c.4075T>G (p.Phe1359Val)
c.2608T>G (p.Phe870Val)
c.3793T>G (p.Phe1265Val)
c.3379T>G (p.Phe1127Val)
c.3985T>G (p.Phe1329Val)
c.4339T>G (p.Phe1447Val)
2g.25742178A>GCA346073769ASXL2c.4156T>C (p.Phe1386Leu)
c.4159T>C (p.Phe1387Leu)
c.4075T>C (p.Phe1359Leu)
c.2608T>C (p.Phe870Leu)
c.3793T>C (p.Phe1265Leu)
c.3379T>C (p.Phe1127Leu)
c.3985T>C (p.Phe1329Leu)
c.4339T>C (p.Phe1447Leu)
2g.25742178A>TCA346073767ASXL2c.4156T>A (p.Phe1386Ile)
c.4159T>A (p.Phe1387Ile)
c.4075T>A (p.Phe1359Ile)
c.2608T>A (p.Phe870Ile)
c.3793T>A (p.Phe1265Ile)
c.3379T>A (p.Phe1127Ile)
c.3985T>A (p.Phe1329Ile)
c.4339T>A (p.Phe1447Ile)
2g.25742179C>ACA43734175ASXL2c.4155G>T (p.Ala1385=)
c.4158G>T (p.Ala1386=)
c.4074G>T (p.Ala1358=)
c.2607G>T (p.Ala869=)
c.3792G>T (p.Ala1264=)
c.3378G>T (p.Ala1126=)
c.3984G>T (p.Ala1328=)
c.4338G>T (p.Ala1446=)
 dbSNP
2g.25742179C=CA1239490354ASXL2c.4155G= (p.Ala1385=)
c.4158G= (p.Ala1386=)
c.4074G= (p.Ala1358=)
c.2607G= (p.Ala869=)
c.3792G= (p.Ala1264=)
c.3378G= (p.Ala1126=)
c.3984G= (p.Ala1328=)
c.4338G= (p.Ala1446=)
2g.25742179C>GCA425181370ASXL2c.4155G>C (p.Ala1385=)
c.4158G>C (p.Ala1386=)
c.4074G>C (p.Ala1358=)
c.2607G>C (p.Ala869=)
c.3792G>C (p.Ala1264=)
c.3378G>C (p.Ala1126=)
c.3984G>C (p.Ala1328=)
c.4338G>C (p.Ala1446=)
2g.25742179C>TCA1557352ASXL2c.4155G>A (p.Ala1385=)
c.4158G>A (p.Ala1386=)
c.4074G>A (p.Ala1358=)
c.2607G>A (p.Ala869=)
c.3792G>A (p.Ala1264=)
c.3378G>A (p.Ala1126=)
c.3984G>A (p.Ala1328=)
c.4338G>A (p.Ala1446=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742180G>ACA43734177ASXL2c.4154C>T (p.Ala1385Val)
c.4157C>T (p.Ala1386Val)
c.4073C>T (p.Ala1358Val)
c.2606C>T (p.Ala869Val)
c.3791C>T (p.Ala1264Val)
c.3377C>T (p.Ala1126Val)
c.3983C>T (p.Ala1328Val)
c.4337C>T (p.Ala1446Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.25742180G>CCA346073770ASXL2c.4154C>G (p.Ala1385Gly)
c.4157C>G (p.Ala1386Gly)
c.4073C>G (p.Ala1358Gly)
c.2606C>G (p.Ala869Gly)
c.3791C>G (p.Ala1264Gly)
c.3377C>G (p.Ala1126Gly)
c.3983C>G (p.Ala1328Gly)
c.4337C>G (p.Ala1446Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.25742180G=CA1239490355ASXL2c.4154C= (p.Ala1385=)
c.4157C= (p.Ala1386=)
c.4073C= (p.Ala1358=)
c.2606C= (p.Ala869=)
c.3791C= (p.Ala1264=)
c.3377C= (p.Ala1126=)
c.3983C= (p.Ala1328=)
c.4337C= (p.Ala1446=)
2g.25742180G>TCA346073771ASXL2c.4154C>A (p.Ala1385Glu)
c.4157C>A (p.Ala1386Glu)
c.4073C>A (p.Ala1358Glu)
c.2606C>A (p.Ala869Glu)
c.3791C>A (p.Ala1264Glu)
c.3377C>A (p.Ala1126Glu)
c.3983C>A (p.Ala1328Glu)
c.4337C>A (p.Ala1446Glu)
 gnomAD v4
2g.25742181C>ACA346073774ASXL2c.4153G>T (p.Ala1385Ser)
c.4156G>T (p.Ala1386Ser)
c.4072G>T (p.Ala1358Ser)
c.2605G>T (p.Ala869Ser)
c.3790G>T (p.Ala1264Ser)
c.3376G>T (p.Ala1126Ser)
c.3982G>T (p.Ala1328Ser)
c.4336G>T (p.Ala1446Ser)
2g.25742181C>GCA346073772ASXL2c.4153G>C (p.Ala1385Pro)
c.4156G>C (p.Ala1386Pro)
c.4072G>C (p.Ala1358Pro)
c.2605G>C (p.Ala869Pro)
c.3790G>C (p.Ala1264Pro)
c.3376G>C (p.Ala1126Pro)
c.3982G>C (p.Ala1328Pro)
c.4336G>C (p.Ala1446Pro)
2g.25742181C>TCA346073773ASXL2c.4153G>A (p.Ala1385Thr)
c.4156G>A (p.Ala1386Thr)
c.4072G>A (p.Ala1358Thr)
c.2605G>A (p.Ala869Thr)
c.3790G>A (p.Ala1264Thr)
c.3376G>A (p.Ala1126Thr)
c.3982G>A (p.Ala1328Thr)
c.4336G>A (p.Ala1446Thr)
 gnomAD v4
2g.25742182C>ACA346073775ASXL2c.4152G>T (p.Gln1384His)
c.4155G>T (p.Gln1385His)
c.4071G>T (p.Gln1357His)
c.2604G>T (p.Gln868His)
c.3789G>T (p.Gln1263His)
c.3375G>T (p.Gln1125His)
c.3981G>T (p.Gln1327His)
c.4335G>T (p.Gln1445His)
2g.25742182C=CA1239490356ASXL2c.4152G= (p.Gln1384=)
c.4155G= (p.Gln1385=)
c.4071G= (p.Gln1357=)
c.2604G= (p.Gln868=)
c.3789G= (p.Gln1263=)
c.3375G= (p.Gln1125=)
c.3981G= (p.Gln1327=)
c.4335G= (p.Gln1445=)
2g.25742182C>GCA346073776ASXL2c.4152G>C (p.Gln1384His)
c.4155G>C (p.Gln1385His)
c.4071G>C (p.Gln1357His)
c.2604G>C (p.Gln868His)
c.3789G>C (p.Gln1263His)
c.3375G>C (p.Gln1125His)
c.3981G>C (p.Gln1327His)
c.4335G>C (p.Gln1445His)
2g.25742182C>TCA425181371ASXL2c.4152G>A (p.Gln1384=)
c.4155G>A (p.Gln1385=)
c.4071G>A (p.Gln1357=)
c.2604G>A (p.Gln868=)
c.3789G>A (p.Gln1263=)
c.3375G>A (p.Gln1125=)
c.3981G>A (p.Gln1327=)
c.4335G>A (p.Gln1445=)
 dbSNP gnomAD v4
2g.25742183T>ACA346073777ASXL2c.4151A>T (p.Gln1384Leu)
c.4154A>T (p.Gln1385Leu)
c.4070A>T (p.Gln1357Leu)
c.2603A>T (p.Gln868Leu)
c.3788A>T (p.Gln1263Leu)
c.3374A>T (p.Gln1125Leu)
c.3980A>T (p.Gln1327Leu)
c.4334A>T (p.Gln1445Leu)
2g.25742183T>CCA346073778ASXL2c.4151A>G (p.Gln1384Arg)
c.4154A>G (p.Gln1385Arg)
c.4070A>G (p.Gln1357Arg)
c.2603A>G (p.Gln868Arg)
c.3788A>G (p.Gln1263Arg)
c.3374A>G (p.Gln1125Arg)
c.3980A>G (p.Gln1327Arg)
c.4334A>G (p.Gln1445Arg)
 gnomAD v4
2g.25742183T>GCA346073779ASXL2c.4151A>C (p.Gln1384Pro)
c.4154A>C (p.Gln1385Pro)
c.4070A>C (p.Gln1357Pro)
c.2603A>C (p.Gln868Pro)
c.3788A>C (p.Gln1263Pro)
c.3374A>C (p.Gln1125Pro)
c.3980A>C (p.Gln1327Pro)
c.4334A>C (p.Gln1445Pro)
2g.25742184G>ACA346073780ASXL2c.4150C>T (p.Gln1384Ter)
c.4153C>T (p.Gln1385Ter)
c.4069C>T (p.Gln1357Ter)
c.2602C>T (p.Gln868Ter)
c.3787C>T (p.Gln1263Ter)
c.3373C>T (p.Gln1125Ter)
c.3979C>T (p.Gln1327Ter)
c.4333C>T (p.Gln1445Ter)
2g.25742184G>CCA1557353ASXL2c.4150C>G (p.Gln1384Glu)
c.4153C>G (p.Gln1385Glu)
c.4069C>G (p.Gln1357Glu)
c.2602C>G (p.Gln868Glu)
c.3787C>G (p.Gln1263Glu)
c.3373C>G (p.Gln1125Glu)
c.3979C>G (p.Gln1327Glu)
c.4333C>G (p.Gln1445Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742184G=CA1239490357ASXL2c.4150C= (p.Gln1384=)
c.4153C= (p.Gln1385=)
c.4069C= (p.Gln1357=)
c.2602C= (p.Gln868=)
c.3787C= (p.Gln1263=)
c.3373C= (p.Gln1125=)
c.3979C= (p.Gln1327=)
c.4333C= (p.Gln1445=)
2g.25742184G>TCA346073781ASXL2c.4150C>A (p.Gln1384Lys)
c.4153C>A (p.Gln1385Lys)
c.4069C>A (p.Gln1357Lys)
c.2602C>A (p.Gln868Lys)
c.3787C>A (p.Gln1263Lys)
c.3373C>A (p.Gln1125Lys)
c.3979C>A (p.Gln1327Lys)
c.4333C>A (p.Gln1445Lys)
2g.25742185A>CCA425181372ASXL2c.4149T>G (p.Val1383=)
c.4152T>G (p.Val1384=)
c.4068T>G (p.Val1356=)
c.2601T>G (p.Val867=)
c.3786T>G (p.Val1262=)
c.3372T>G (p.Val1124=)
c.3978T>G (p.Val1326=)
c.4332T>G (p.Val1444=)
2g.25742185A>GCA425181374ASXL2c.4149T>C (p.Val1383=)
c.4152T>C (p.Val1384=)
c.4068T>C (p.Val1356=)
c.2601T>C (p.Val867=)
c.3786T>C (p.Val1262=)
c.3372T>C (p.Val1124=)
c.3978T>C (p.Val1326=)
c.4332T>C (p.Val1444=)
2g.25742185A>TCA425181373ASXL2c.4149T>A (p.Val1383=)
c.4152T>A (p.Val1384=)
c.4068T>A (p.Val1356=)
c.2601T>A (p.Val867=)
c.3786T>A (p.Val1262=)
c.3372T>A (p.Val1124=)
c.3978T>A (p.Val1326=)
c.4332T>A (p.Val1444=)
2g.25742186A>CCA346073782ASXL2c.4148T>G (p.Val1383Gly)
c.4151T>G (p.Val1384Gly)
c.4067T>G (p.Val1356Gly)
c.2600T>G (p.Val867Gly)
c.3785T>G (p.Val1262Gly)
c.3371T>G (p.Val1124Gly)
c.3977T>G (p.Val1326Gly)
c.4331T>G (p.Val1444Gly)
2g.25742186A>GCA346073784ASXL2c.4148T>C (p.Val1383Ala)
c.4151T>C (p.Val1384Ala)
c.4067T>C (p.Val1356Ala)
c.2600T>C (p.Val867Ala)
c.3785T>C (p.Val1262Ala)
c.3371T>C (p.Val1124Ala)
c.3977T>C (p.Val1326Ala)
c.4331T>C (p.Val1444Ala)
2g.25742186A>TCA346073783ASXL2c.4148T>A (p.Val1383Asp)
c.4151T>A (p.Val1384Asp)
c.4067T>A (p.Val1356Asp)
c.2600T>A (p.Val867Asp)
c.3785T>A (p.Val1262Asp)
c.3371T>A (p.Val1124Asp)
c.3977T>A (p.Val1326Asp)
c.4331T>A (p.Val1444Asp)
2g.25742187C>ACA43734180ASXL2c.4147G>T (p.Val1383Phe)
c.4150G>T (p.Val1384Phe)
c.4066G>T (p.Val1356Phe)
c.2599G>T (p.Val867Phe)
c.3784G>T (p.Val1262Phe)
c.3370G>T (p.Val1124Phe)
c.3976G>T (p.Val1326Phe)
c.4330G>T (p.Val1444Phe)
 dbSNP gnomAD v4
2g.25742187C=CA1239490358ASXL2c.4147G= (p.Val1383=)
c.4150G= (p.Val1384=)
c.4066G= (p.Val1356=)
c.2599G= (p.Val867=)
c.3784G= (p.Val1262=)
c.3370G= (p.Val1124=)
c.3976G= (p.Val1326=)
c.4330G= (p.Val1444=)
2g.25742187C>GCA346073785ASXL2c.4147G>C (p.Val1383Leu)
c.4150G>C (p.Val1384Leu)
c.4066G>C (p.Val1356Leu)
c.2599G>C (p.Val867Leu)
c.3784G>C (p.Val1262Leu)
c.3370G>C (p.Val1124Leu)
c.3976G>C (p.Val1326Leu)
c.4330G>C (p.Val1444Leu)
2g.25742187C>TCA346073786ASXL2c.4147G>A (p.Val1383Ile)
c.4150G>A (p.Val1384Ile)
c.4066G>A (p.Val1356Ile)
c.2599G>A (p.Val867Ile)
c.3784G>A (p.Val1262Ile)
c.3370G>A (p.Val1124Ile)
c.3976G>A (p.Val1326Ile)
c.4330G>A (p.Val1444Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.25742188A>CCA425181375ASXL2c.4146T>G (p.Pro1382=)
c.4149T>G (p.Pro1383=)
c.4065T>G (p.Pro1355=)
c.2598T>G (p.Pro866=)
c.3783T>G (p.Pro1261=)
c.3369T>G (p.Pro1123=)
c.3975T>G (p.Pro1325=)
c.4329T>G (p.Pro1443=)
2g.25742188A>GCA425181376ASXL2c.4146T>C (p.Pro1382=)
c.4149T>C (p.Pro1383=)
c.4065T>C (p.Pro1355=)
c.2598T>C (p.Pro866=)
c.3783T>C (p.Pro1261=)
c.3369T>C (p.Pro1123=)
c.3975T>C (p.Pro1325=)
c.4329T>C (p.Pro1443=)
 gnomAD v4
2g.25742188A>TCA425181377ASXL2c.4146T>A (p.Pro1382=)
c.4149T>A (p.Pro1383=)
c.4065T>A (p.Pro1355=)
c.2598T>A (p.Pro866=)
c.3783T>A (p.Pro1261=)
c.3369T>A (p.Pro1123=)
c.3975T>A (p.Pro1325=)
c.4329T>A (p.Pro1443=)
2g.25742189G>ACA346073787ASXL2c.4145C>T (p.Pro1382Leu)
c.4148C>T (p.Pro1383Leu)
c.4064C>T (p.Pro1355Leu)
c.2597C>T (p.Pro866Leu)
c.3782C>T (p.Pro1261Leu)
c.3368C>T (p.Pro1123Leu)
c.3974C>T (p.Pro1325Leu)
c.4328C>T (p.Pro1443Leu)
 gnomAD v4
2g.25742189G>CCA346073788ASXL2c.4145C>G (p.Pro1382Arg)
c.4148C>G (p.Pro1383Arg)
c.4064C>G (p.Pro1355Arg)
c.2597C>G (p.Pro866Arg)
c.3782C>G (p.Pro1261Arg)
c.3368C>G (p.Pro1123Arg)
c.3974C>G (p.Pro1325Arg)
c.4328C>G (p.Pro1443Arg)
2g.25742189G>TCA346073789ASXL2c.4145C>A (p.Pro1382His)
c.4148C>A (p.Pro1383His)
c.4064C>A (p.Pro1355His)
c.2597C>A (p.Pro866His)
c.3782C>A (p.Pro1261His)
c.3368C>A (p.Pro1123His)
c.3974C>A (p.Pro1325His)
c.4328C>A (p.Pro1443His)
2g.25742190G>ACA346073790ASXL2c.4144C>T (p.Pro1382Ser)
c.4147C>T (p.Pro1383Ser)
c.4063C>T (p.Pro1355Ser)
c.2596C>T (p.Pro866Ser)
c.3781C>T (p.Pro1261Ser)
c.3367C>T (p.Pro1123Ser)
c.3973C>T (p.Pro1325Ser)
c.4327C>T (p.Pro1443Ser)
 gnomAD v4 COSMIC COSMIC
2g.25742190G>CCA346073791ASXL2c.4144C>G (p.Pro1382Ala)
c.4147C>G (p.Pro1383Ala)
c.4063C>G (p.Pro1355Ala)
c.2596C>G (p.Pro866Ala)
c.3781C>G (p.Pro1261Ala)
c.3367C>G (p.Pro1123Ala)
c.3973C>G (p.Pro1325Ala)
c.4327C>G (p.Pro1443Ala)
2g.25742190G>TCA346073792ASXL2c.4144C>A (p.Pro1382Thr)
c.4147C>A (p.Pro1383Thr)
c.4063C>A (p.Pro1355Thr)
c.2596C>A (p.Pro866Thr)
c.3781C>A (p.Pro1261Thr)
c.3367C>A (p.Pro1123Thr)
c.3973C>A (p.Pro1325Thr)
c.4327C>A (p.Pro1443Thr)
2g.25742191A>CCA346073793ASXL2c.4143T>G (p.Ile1381Met)
c.4146T>G (p.Ile1382Met)
c.4062T>G (p.Ile1354Met)
c.2595T>G (p.Ile865Met)
c.3780T>G (p.Ile1260Met)
c.3366T>G (p.Ile1122Met)
c.3972T>G (p.Ile1324Met)
c.4326T>G (p.Ile1442Met)
2g.25742191A>GCA425181378ASXL2c.4143T>C (p.Ile1381=)
c.4146T>C (p.Ile1382=)
c.4062T>C (p.Ile1354=)
c.2595T>C (p.Ile865=)
c.3780T>C (p.Ile1260=)
c.3366T>C (p.Ile1122=)
c.3972T>C (p.Ile1324=)
c.4326T>C (p.Ile1442=)
2g.25742191A>TCA425181379ASXL2c.4143T>A (p.Ile1381=)
c.4146T>A (p.Ile1382=)
c.4062T>A (p.Ile1354=)
c.2595T>A (p.Ile865=)
c.3780T>A (p.Ile1260=)
c.3366T>A (p.Ile1122=)
c.3972T>A (p.Ile1324=)
c.4326T>A (p.Ile1442=)
2g.25742192A>CCA346073794ASXL2c.4142T>G (p.Ile1381Ser)
c.4145T>G (p.Ile1382Ser)
c.4061T>G (p.Ile1354Ser)
c.2594T>G (p.Ile865Ser)
c.3779T>G (p.Ile1260Ser)
c.3365T>G (p.Ile1122Ser)
c.3971T>G (p.Ile1324Ser)
c.4325T>G (p.Ile1442Ser)
 gnomAD v4
2g.25742192A>GCA346073795ASXL2c.4142T>C (p.Ile1381Thr)
c.4145T>C (p.Ile1382Thr)
c.4061T>C (p.Ile1354Thr)
c.2594T>C (p.Ile865Thr)
c.3779T>C (p.Ile1260Thr)
c.3365T>C (p.Ile1122Thr)
c.3971T>C (p.Ile1324Thr)
c.4325T>C (p.Ile1442Thr)
2g.25742192A>TCA346073796ASXL2c.4142T>A (p.Ile1381Asn)
c.4145T>A (p.Ile1382Asn)
c.4061T>A (p.Ile1354Asn)
c.2594T>A (p.Ile865Asn)
c.3779T>A (p.Ile1260Asn)
c.3365T>A (p.Ile1122Asn)
c.3971T>A (p.Ile1324Asn)
c.4325T>A (p.Ile1442Asn)
2g.25742193T>ACA346073797ASXL2c.4141A>T (p.Ile1381Phe)
c.4144A>T (p.Ile1382Phe)
c.4060A>T (p.Ile1354Phe)
c.2593A>T (p.Ile865Phe)
c.3778A>T (p.Ile1260Phe)
c.3364A>T (p.Ile1122Phe)
c.3970A>T (p.Ile1324Phe)
c.4324A>T (p.Ile1442Phe)
2g.25742193T>CCA346073799ASXL2c.4141A>G (p.Ile1381Val)
c.4144A>G (p.Ile1382Val)
c.4060A>G (p.Ile1354Val)
c.2593A>G (p.Ile865Val)
c.3778A>G (p.Ile1260Val)
c.3364A>G (p.Ile1122Val)
c.3970A>G (p.Ile1324Val)
c.4324A>G (p.Ile1442Val)
 gnomAD v4
2g.25742193T>GCA346073798ASXL2c.4141A>C (p.Ile1381Leu)
c.4144A>C (p.Ile1382Leu)
c.4060A>C (p.Ile1354Leu)
c.2593A>C (p.Ile865Leu)
c.3778A>C (p.Ile1260Leu)
c.3364A>C (p.Ile1122Leu)
c.3970A>C (p.Ile1324Leu)
c.4324A>C (p.Ile1442Leu)
2g.25742194G>ACA425181380ASXL2c.4140C>T (p.Thr1380=)
c.4143C>T (p.Thr1381=)
c.4059C>T (p.Thr1353=)
c.2592C>T (p.Thr864=)
c.3777C>T (p.Thr1259=)
c.3363C>T (p.Thr1121=)
c.3969C>T (p.Thr1323=)
c.4323C>T (p.Thr1441=)
 dbSNP gnomAD v3 gnomAD v4
2g.25742194G>CCA425181381ASXL2c.4140C>G (p.Thr1380=)
c.4143C>G (p.Thr1381=)
c.4059C>G (p.Thr1353=)
c.2592C>G (p.Thr864=)
c.3777C>G (p.Thr1259=)
c.3363C>G (p.Thr1121=)
c.3969C>G (p.Thr1323=)
c.4323C>G (p.Thr1441=)
2g.25742194G=CA1239490359ASXL2c.4140C= (p.Thr1380=)
c.4143C= (p.Thr1381=)
c.4059C= (p.Thr1353=)
c.2592C= (p.Thr864=)
c.3777C= (p.Thr1259=)
c.3363C= (p.Thr1121=)
c.3969C= (p.Thr1323=)
c.4323C= (p.Thr1441=)
2g.25742194G>TCA425181382ASXL2c.4140C>A (p.Thr1380=)
c.4143C>A (p.Thr1381=)
c.4059C>A (p.Thr1353=)
c.2592C>A (p.Thr864=)
c.3777C>A (p.Thr1259=)
c.3363C>A (p.Thr1121=)
c.3969C>A (p.Thr1323=)
c.4323C>A (p.Thr1441=)
 dbSNP gnomAD v2 gnomAD v4
2g.25742195G>ACA346073800ASXL2c.4139C>T (p.Thr1380Ile)
c.4142C>T (p.Thr1381Ile)
c.4058C>T (p.Thr1353Ile)
c.2591C>T (p.Thr864Ile)
c.3776C>T (p.Thr1259Ile)
c.3362C>T (p.Thr1121Ile)
c.3968C>T (p.Thr1323Ile)
c.4322C>T (p.Thr1441Ile)
 gnomAD v4
2g.25742195G>CCA346073801ASXL2c.4139C>G (p.Thr1380Ser)
c.4142C>G (p.Thr1381Ser)
c.4058C>G (p.Thr1353Ser)
c.2591C>G (p.Thr864Ser)
c.3776C>G (p.Thr1259Ser)
c.3362C>G (p.Thr1121Ser)
c.3968C>G (p.Thr1323Ser)
c.4322C>G (p.Thr1441Ser)
2g.25742195G>TCA346073802ASXL2c.4139C>A (p.Thr1380Asn)
c.4142C>A (p.Thr1381Asn)
c.4058C>A (p.Thr1353Asn)
c.2591C>A (p.Thr864Asn)
c.3776C>A (p.Thr1259Asn)
c.3362C>A (p.Thr1121Asn)
c.3968C>A (p.Thr1323Asn)
c.4322C>A (p.Thr1441Asn)
2g.25742196T>ACA346073803ASXL2c.4138A>T (p.Thr1380Ser)
c.4141A>T (p.Thr1381Ser)
c.4057A>T (p.Thr1353Ser)
c.2590A>T (p.Thr864Ser)
c.3775A>T (p.Thr1259Ser)
c.3361A>T (p.Thr1121Ser)
c.3967A>T (p.Thr1323Ser)
c.4321A>T (p.Thr1441Ser)
 gnomAD v4
2g.25742196T>CCA346073804ASXL2c.4138A>G (p.Thr1380Ala)
c.4141A>G (p.Thr1381Ala)
c.4057A>G (p.Thr1353Ala)
c.2590A>G (p.Thr864Ala)
c.3775A>G (p.Thr1259Ala)
c.3361A>G (p.Thr1121Ala)
c.3967A>G (p.Thr1323Ala)
c.4321A>G (p.Thr1441Ala)
2g.25742196T>GCA346073805ASXL2c.4138A>C (p.Thr1380Pro)
c.4141A>C (p.Thr1381Pro)
c.4057A>C (p.Thr1353Pro)
c.2590A>C (p.Thr864Pro)
c.3775A>C (p.Thr1259Pro)
c.3361A>C (p.Thr1121Pro)
c.3967A>C (p.Thr1323Pro)
c.4321A>C (p.Thr1441Pro)
2g.25742197C>ACA346073806ASXL2c.4137G>T (p.Gln1379His)
c.4140G>T (p.Gln1380His)
c.4056G>T (p.Gln1352His)
c.2589G>T (p.Gln863His)
c.3774G>T (p.Gln1258His)
c.3360G>T (p.Gln1120His)
c.3966G>T (p.Gln1322His)
c.4320G>T (p.Gln1440His)
2g.25742197C>GCA346073807ASXL2c.4137G>C (p.Gln1379His)
c.4140G>C (p.Gln1380His)
c.4056G>C (p.Gln1352His)
c.2589G>C (p.Gln863His)
c.3774G>C (p.Gln1258His)
c.3360G>C (p.Gln1120His)
c.3966G>C (p.Gln1322His)
c.4320G>C (p.Gln1440His)
2g.25742197C>TCA425181383ASXL2c.4137G>A (p.Gln1379=)
c.4140G>A (p.Gln1380=)
c.4056G>A (p.Gln1352=)
c.2589G>A (p.Gln863=)
c.3774G>A (p.Gln1258=)
c.3360G>A (p.Gln1120=)
c.3966G>A (p.Gln1322=)
c.4320G>A (p.Gln1440=)
2g.25742198T>ACA346073808ASXL2c.4136A>T (p.Gln1379Leu)
c.4139A>T (p.Gln1380Leu)
c.4055A>T (p.Gln1352Leu)
c.2588A>T (p.Gln863Leu)
c.3773A>T (p.Gln1258Leu)
c.3359A>T (p.Gln1120Leu)
c.3965A>T (p.Gln1322Leu)
c.4319A>T (p.Gln1440Leu)
2g.25742198T>CCA346073809ASXL2c.4136A>G (p.Gln1379Arg)
c.4139A>G (p.Gln1380Arg)
c.4055A>G (p.Gln1352Arg)
c.2588A>G (p.Gln863Arg)
c.3773A>G (p.Gln1258Arg)
c.3359A>G (p.Gln1120Arg)
c.3965A>G (p.Gln1322Arg)
c.4319A>G (p.Gln1440Arg)
2g.25742198T>GCA346073810ASXL2c.4136A>C (p.Gln1379Pro)
c.4139A>C (p.Gln1380Pro)
c.4055A>C (p.Gln1352Pro)
c.2588A>C (p.Gln863Pro)
c.3773A>C (p.Gln1258Pro)
c.3359A>C (p.Gln1120Pro)
c.3965A>C (p.Gln1322Pro)
c.4319A>C (p.Gln1440Pro)
2g.25742199G>ACA346073813ASXL2c.4135C>T (p.Gln1379Ter)
c.4138C>T (p.Gln1380Ter)
c.4054C>T (p.Gln1352Ter)
c.2587C>T (p.Gln863Ter)
c.3772C>T (p.Gln1258Ter)
c.3358C>T (p.Gln1120Ter)
c.3964C>T (p.Gln1322Ter)
c.4318C>T (p.Gln1440Ter)
2g.25742199G>CCA346073812ASXL2c.4135C>G (p.Gln1379Glu)
c.4138C>G (p.Gln1380Glu)
c.4054C>G (p.Gln1352Glu)
c.2587C>G (p.Gln863Glu)
c.3772C>G (p.Gln1258Glu)
c.3358C>G (p.Gln1120Glu)
c.3964C>G (p.Gln1322Glu)
c.4318C>G (p.Gln1440Glu)
2g.25742199G>TCA346073811ASXL2c.4135C>A (p.Gln1379Lys)
c.4138C>A (p.Gln1380Lys)
c.4054C>A (p.Gln1352Lys)
c.2587C>A (p.Gln863Lys)
c.3772C>A (p.Gln1258Lys)
c.3358C>A (p.Gln1120Lys)
c.3964C>A (p.Gln1322Lys)
c.4318C>A (p.Gln1440Lys)
2g.25742200G>ACA425181384ASXL2c.4134C>T (p.Gly1378=)
c.4137C>T (p.Gly1379=)
c.4053C>T (p.Gly1351=)
c.2586C>T (p.Gly862=)
c.3771C>T (p.Gly1257=)
c.3357C>T (p.Gly1119=)
c.3963C>T (p.Gly1321=)
c.4317C>T (p.Gly1439=)
2g.25742200G>CCA425181385ASXL2c.4134C>G (p.Gly1378=)
c.4137C>G (p.Gly1379=)
c.4053C>G (p.Gly1351=)
c.2586C>G (p.Gly862=)
c.3771C>G (p.Gly1257=)
c.3357C>G (p.Gly1119=)
c.3963C>G (p.Gly1321=)
c.4317C>G (p.Gly1439=)
2g.25742200G>TCA425181386ASXL2c.4134C>A (p.Gly1378=)
c.4137C>A (p.Gly1379=)
c.4053C>A (p.Gly1351=)
c.2586C>A (p.Gly862=)
c.3771C>A (p.Gly1257=)
c.3357C>A (p.Gly1119=)
c.3963C>A (p.Gly1321=)
c.4317C>A (p.Gly1439=)
2g.25742201C>ACA346073816ASXL2c.4133G>T (p.Gly1378Val)
c.4136G>T (p.Gly1379Val)
c.4052G>T (p.Gly1351Val)
c.2585G>T (p.Gly862Val)
c.3770G>T (p.Gly1257Val)
c.3356G>T (p.Gly1119Val)
c.3962G>T (p.Gly1321Val)
c.4316G>T (p.Gly1439Val)
2g.25742201C=CA1239490360ASXL2c.4133G= (p.Gly1378=)
c.4136G= (p.Gly1379=)
c.4052G= (p.Gly1351=)
c.2585G= (p.Gly862=)
c.3770G= (p.Gly1257=)
c.3356G= (p.Gly1119=)
c.3962G= (p.Gly1321=)
c.4316G= (p.Gly1439=)
2g.25742201C>GCA346073814ASXL2c.4133G>C (p.Gly1378Ala)
c.4136G>C (p.Gly1379Ala)
c.4052G>C (p.Gly1351Ala)
c.2585G>C (p.Gly862Ala)
c.3770G>C (p.Gly1257Ala)
c.3356G>C (p.Gly1119Ala)
c.3962G>C (p.Gly1321Ala)
c.4316G>C (p.Gly1439Ala)
2g.25742201C>TCA346073815ASXL2c.4133G>A (p.Gly1378Asp)
c.4136G>A (p.Gly1379Asp)
c.4052G>A (p.Gly1351Asp)
c.2585G>A (p.Gly862Asp)
c.3770G>A (p.Gly1257Asp)
c.3356G>A (p.Gly1119Asp)
c.3962G>A (p.Gly1321Asp)
c.4316G>A (p.Gly1439Asp)
 dbSNP gnomAD v3 gnomAD v4
2g.25742202C>ACA346073817ASXL2c.4132G>T (p.Gly1378Cys)
c.4135G>T (p.Gly1379Cys)
c.4051G>T (p.Gly1351Cys)
c.2584G>T (p.Gly862Cys)
c.3769G>T (p.Gly1257Cys)
c.3355G>T (p.Gly1119Cys)
c.3961G>T (p.Gly1321Cys)
c.4315G>T (p.Gly1439Cys)
2g.25742202C=CA1239490361ASXL2c.4132G= (p.Gly1378=)
c.4135G= (p.Gly1379=)
c.4051G= (p.Gly1351=)
c.2584G= (p.Gly862=)
c.3769G= (p.Gly1257=)
c.3355G= (p.Gly1119=)
c.3961G= (p.Gly1321=)
c.4315G= (p.Gly1439=)
2g.25742202C>GCA346073818ASXL2c.4132G>C (p.Gly1378Arg)
c.4135G>C (p.Gly1379Arg)
c.4051G>C (p.Gly1351Arg)
c.2584G>C (p.Gly862Arg)
c.3769G>C (p.Gly1257Arg)
c.3355G>C (p.Gly1119Arg)
c.3961G>C (p.Gly1321Arg)
c.4315G>C (p.Gly1439Arg)
2g.25742202C>TCA1557354ASXL2c.4132G>A (p.Gly1378Ser)
c.4135G>A (p.Gly1379Ser)
c.4051G>A (p.Gly1351Ser)
c.2584G>A (p.Gly862Ser)
c.3769G>A (p.Gly1257Ser)
c.3355G>A (p.Gly1119Ser)
c.3961G>A (p.Gly1321Ser)
c.4315G>A (p.Gly1439Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.25742203A>CCA346073820ASXL2c.4131T>G (p.His1377Gln)
c.4134T>G (p.His1378Gln)
c.4050T>G (p.His1350Gln)
c.2583T>G (p.His861Gln)
c.3768T>G (p.His1256Gln)
c.3354T>G (p.His1118Gln)
c.3960T>G (p.His1320Gln)
c.4314T>G (p.His1438Gln)
2g.25742203A>GCA425181387ASXL2c.4131T>C (p.His1377=)
c.4134T>C (p.His1378=)
c.4050T>C (p.His1350=)
c.2583T>C (p.His861=)
c.3768T>C (p.His1256=)
c.3354T>C (p.His1118=)
c.3960T>C (p.His1320=)
c.4314T>C (p.His1438=)
 ClinVar gnomAD v4
2g.25742203A>TCA346073822ASXL2c.4131T>A (p.His1377Gln)
c.4134T>A (p.His1378Gln)
c.4050T>A (p.His1350Gln)
c.2583T>A (p.His861Gln)
c.3768T>A (p.His1256Gln)
c.3354T>A (p.His1118Gln)
c.3960T>A (p.His1320Gln)
c.4314T>A (p.His1438Gln)

Number of alleles fetched