Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.33736196_33741393delCA1139666016ASXL3c.1085+1781_3042+950del
c.1082+1781_3039+950del
c.*206+1781_*2163+950del
c.*741+1781_*2698+950del
c.1294+1781_3251+950del
c.914+1781_2871+950del
c.962+1781_2919+950del
c.1058+1781_3015+950del
c.1004+1781_2961+950del
c.965+1781_2922+950del
 ClinVar
18g.33736199_33741395delCA915951347ASXL3c.1085+1784_3042+952del
c.1082+1784_3039+952del
c.*206+1784_*2163+952del
c.*741+1784_*2698+952del
c.1294+1784_3251+952del
c.914+1784_2871+952del
c.962+1784_2919+952del
c.1058+1784_3015+952del
c.1004+1784_2961+952del
c.965+1784_2922+952del
18g.33738861C>ACA402175398ASXL3c.1460C>A (p.Ser487Tyr)
c.1457C>A (p.Ser486Tyr)
c.*581C>A (n.*581C>A)
c.*1116C>A (n.*1116C>A)
c.1669C>A (n.1669C>A)
c.1289C>A (p.Ser430Tyr)
c.1337C>A (p.Ser446Tyr)
c.1433C>A (p.Ser478Tyr)
c.1379C>A (p.Ser460Tyr)
c.1340C>A (p.Ser447Tyr)
 dbSNP
18g.33738861C>GCA402175401ASXL3c.1460C>G (p.Ser487Cys)
c.1457C>G (p.Ser486Cys)
c.*581C>G (n.*581C>G)
c.*1116C>G (n.*1116C>G)
c.1669C>G (n.1669C>G)
c.1289C>G (p.Ser430Cys)
c.1337C>G (p.Ser446Cys)
c.1433C>G (p.Ser478Cys)
c.1379C>G (p.Ser460Cys)
c.1340C>G (p.Ser447Cys)
18g.33738861C>TCA402175403ASXL3c.1460C>T (p.Ser487Phe)
c.1457C>T (p.Ser486Phe)
c.*581C>T (n.*581C>T)
c.*1116C>T (n.*1116C>T)
c.1669C>T (n.1669C>T)
c.1289C>T (p.Ser430Phe)
c.1337C>T (p.Ser446Phe)
c.1433C>T (p.Ser478Phe)
c.1379C>T (p.Ser460Phe)
c.1340C>T (p.Ser447Phe)
18g.33738862delCA2695227380ASXL3c.1461del (p.His488MetfsTer6)
c.1458del (p.His487MetfsTer6)
c.*582del (n.*582del)
c.*1117del (n.*1117del)
c.1670del (n.1670del)
c.1290del (p.His431MetfsTer6)
c.1338del (p.His447MetfsTer6)
c.1434del (p.His479MetfsTer6)
c.1380del (p.His461MetfsTer6)
c.1341del (p.His448MetfsTer6)
18g.33738862T>ACA503768350ASXL3c.1461T>A (p.Ser487=)
c.1458T>A (p.Ser486=)
c.*582T>A (n.*582T>A)
c.*1117T>A (n.*1117T>A)
c.1670T>A (n.1670T>A)
c.1290T>A (p.Ser430=)
c.1338T>A (p.Ser446=)
c.1434T>A (p.Ser478=)
c.1380T>A (p.Ser460=)
c.1341T>A (p.Ser447=)
18g.33738862T>CCA503768351ASXL3c.1461T>C (p.Ser487=)
c.1458T>C (p.Ser486=)
c.*582T>C (n.*582T>C)
c.*1117T>C (n.*1117T>C)
c.1670T>C (n.1670T>C)
c.1290T>C (p.Ser430=)
c.1338T>C (p.Ser446=)
c.1434T>C (p.Ser478=)
c.1380T>C (p.Ser460=)
c.1341T>C (p.Ser447=)
18g.33738862T>GCA503768352ASXL3c.1461T>G (p.Ser487=)
c.1458T>G (p.Ser486=)
c.*582T>G (n.*582T>G)
c.*1117T>G (n.*1117T>G)
c.1670T>G (n.1670T>G)
c.1290T>G (p.Ser430=)
c.1338T>G (p.Ser446=)
c.1434T>G (p.Ser478=)
c.1380T>G (p.Ser460=)
c.1341T>G (p.Ser447=)
18g.33738863C>ACA402175406ASXL3c.1462C>A (p.His488Asn)
c.1459C>A (p.His487Asn)
c.*583C>A (n.*583C>A)
c.*1118C>A (n.*1118C>A)
c.1671C>A (n.1671C>A)
c.1291C>A (p.His431Asn)
c.1339C>A (p.His447Asn)
c.1435C>A (p.His479Asn)
c.1381C>A (p.His461Asn)
c.1342C>A (p.His448Asn)
18g.33738863C=CA2294855715ASXL3c.1462C= (p.His488=)
c.1459C= (p.His487=)
c.*583C= (n.*583C=)
c.*1118C= (n.*1118C=)
c.1671C= (n.1671C=)
c.1291C= (p.His431=)
c.1339C= (p.His447=)
c.1435C= (p.His479=)
c.1381C= (p.His461=)
c.1342C= (p.His448=)
18g.33738863C>GCA402175408ASXL3c.1462C>G (p.His488Asp)
c.1459C>G (p.His487Asp)
c.*583C>G (n.*583C>G)
c.*1118C>G (n.*1118C>G)
c.1671C>G (n.1671C>G)
c.1291C>G (p.His431Asp)
c.1339C>G (p.His447Asp)
c.1435C>G (p.His479Asp)
c.1381C>G (p.His461Asp)
c.1342C>G (p.His448Asp)
18g.33738863C>TCA8933756ASXL3c.1462C>T (p.His488Tyr)
c.1459C>T (p.His487Tyr)
c.*583C>T (n.*583C>T)
c.*1118C>T (n.*1118C>T)
c.1671C>T (n.1671C>T)
c.1291C>T (p.His431Tyr)
c.1339C>T (p.His447Tyr)
c.1435C>T (p.His479Tyr)
c.1381C>T (p.His461Tyr)
c.1342C>T (p.His448Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33738864A>CCA402175415ASXL3c.1463A>C (p.His488Pro)
c.1460A>C (p.His487Pro)
c.*584A>C (n.*584A>C)
c.*1119A>C (n.*1119A>C)
c.1672A>C (n.1672A>C)
c.1292A>C (p.His431Pro)
c.1340A>C (p.His447Pro)
c.1436A>C (p.His479Pro)
c.1382A>C (p.His461Pro)
c.1343A>C (p.His448Pro)
 gnomAD v4
18g.33738864A>GCA402175417ASXL3c.1463A>G (p.His488Arg)
c.1460A>G (p.His487Arg)
c.*584A>G (n.*584A>G)
c.*1119A>G (n.*1119A>G)
c.1672A>G (n.1672A>G)
c.1292A>G (p.His431Arg)
c.1340A>G (p.His447Arg)
c.1436A>G (p.His479Arg)
c.1382A>G (p.His461Arg)
c.1343A>G (p.His448Arg)
18g.33738864A>TCA402175413ASXL3c.1463A>T (p.His488Leu)
c.1460A>T (p.His487Leu)
c.*584A>T (n.*584A>T)
c.*1119A>T (n.*1119A>T)
c.1672A>T (n.1672A>T)
c.1292A>T (p.His431Leu)
c.1340A>T (p.His447Leu)
c.1436A>T (p.His479Leu)
c.1382A>T (p.His461Leu)
c.1343A>T (p.His448Leu)
18g.33738865T>ACA402175423ASXL3c.1464T>A (p.His488Gln)
c.1461T>A (p.His487Gln)
c.*585T>A (n.*585T>A)
c.*1120T>A (n.*1120T>A)
c.1673T>A (n.1673T>A)
c.1293T>A (p.His431Gln)
c.1341T>A (p.His447Gln)
c.1437T>A (p.His479Gln)
c.1383T>A (p.His461Gln)
c.1344T>A (p.His448Gln)
18g.33738865T>CCA8933757ASXL3c.1464T>C (p.His488=)
c.1461T>C (p.His487=)
c.*585T>C (n.*585T>C)
c.*1120T>C (n.*1120T>C)
c.1673T>C (n.1673T>C)
c.1293T>C (p.His431=)
c.1341T>C (p.His447=)
c.1437T>C (p.His479=)
c.1383T>C (p.His461=)
c.1344T>C (p.His448=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33738865T>GCA402175420ASXL3c.1464T>G (p.His488Gln)
c.1461T>G (p.His487Gln)
c.*585T>G (n.*585T>G)
c.*1120T>G (n.*1120T>G)
c.1673T>G (n.1673T>G)
c.1293T>G (p.His431Gln)
c.1341T>G (p.His447Gln)
c.1437T>G (p.His479Gln)
c.1383T>G (p.His461Gln)
c.1344T>G (p.His448Gln)
18g.33738865T=CA2294855716ASXL3c.1464T= (p.His488=)
c.1461T= (p.His487=)
c.*585T= (n.*585T=)
c.*1120T= (n.*1120T=)
c.1673T= (n.1673T=)
c.1293T= (p.His431=)
c.1341T= (p.His447=)
c.1437T= (p.His479=)
c.1383T= (p.His461=)
c.1344T= (p.His448=)
18g.33738866G>ACA402175425ASXL3c.1465G>A (p.Glu489Lys)
c.1462G>A (p.Glu488Lys)
c.*586G>A (n.*586G>A)
c.*1121G>A (n.*1121G>A)
c.1674G>A (n.1674G>A)
c.1294G>A (p.Glu432Lys)
c.1342G>A (p.Glu448Lys)
c.1438G>A (p.Glu480Lys)
c.1384G>A (p.Glu462Lys)
c.1345G>A (p.Glu449Lys)
 dbSNP gnomAD v2 gnomAD v4
18g.33738866G>CCA402175428ASXL3c.1465G>C (p.Glu489Gln)
c.1462G>C (p.Glu488Gln)
c.*586G>C (n.*586G>C)
c.*1121G>C (n.*1121G>C)
c.1674G>C (n.1674G>C)
c.1294G>C (p.Glu432Gln)
c.1342G>C (p.Glu448Gln)
c.1438G>C (p.Glu480Gln)
c.1384G>C (p.Glu462Gln)
c.1345G>C (p.Glu449Gln)
18g.33738866G=CA2294855717ASXL3c.1465G= (p.Glu489=)
c.1462G= (p.Glu488=)
c.*586G= (n.*586G=)
c.*1121G= (n.*1121G=)
c.1674G= (n.1674G=)
c.1294G= (p.Glu432=)
c.1342G= (p.Glu448=)
c.1438G= (p.Glu480=)
c.1384G= (p.Glu462=)
c.1345G= (p.Glu449=)
18g.33738866G>TCA402175430ASXL3c.1465G>T (p.Glu489Ter)
c.1462G>T (p.Glu488Ter)
c.*586G>T (n.*586G>T)
c.*1121G>T (n.*1121G>T)
c.1674G>T (n.1674G>T)
c.1294G>T (p.Glu432Ter)
c.1342G>T (p.Glu448Ter)
c.1438G>T (p.Glu480Ter)
c.1384G>T (p.Glu462Ter)
c.1345G>T (p.Glu449Ter)
 gnomAD v4
18g.33738869_33738871delCA2641456704ASXL3c.1468_1470del (p.Glu490del)
c.1465_1467del (p.Glu489del)
c.*589_*591del (n.*589_*591del)
c.*1124_*1126del (n.*1124_*1126del)
c.1677_1679del (n.1677_1679del)
c.1297_1299del (p.Glu433del)
c.1345_1347del (p.Glu449del)
c.1441_1443del (p.Glu481del)
c.1387_1389del (p.Glu463del)
c.1348_1350del (p.Glu450del)
 gnomAD v4
18g.33738867A>CCA402175437ASXL3c.1466A>C (p.Glu489Ala)
c.1463A>C (p.Glu488Ala)
c.*587A>C (n.*587A>C)
c.*1122A>C (n.*1122A>C)
c.1675A>C (n.1675A>C)
c.1295A>C (p.Glu432Ala)
c.1343A>C (p.Glu448Ala)
c.1439A>C (p.Glu480Ala)
c.1385A>C (p.Glu462Ala)
c.1346A>C (p.Glu449Ala)
18g.33738867A>GCA402175434ASXL3c.1466A>G (p.Glu489Gly)
c.1463A>G (p.Glu488Gly)
c.*587A>G (n.*587A>G)
c.*1122A>G (n.*1122A>G)
c.1675A>G (n.1675A>G)
c.1295A>G (p.Glu432Gly)
c.1343A>G (p.Glu448Gly)
c.1439A>G (p.Glu480Gly)
c.1385A>G (p.Glu462Gly)
c.1346A>G (p.Glu449Gly)
18g.33738867A>TCA402175432ASXL3c.1466A>T (p.Glu489Val)
c.1463A>T (p.Glu488Val)
c.*587A>T (n.*587A>T)
c.*1122A>T (n.*1122A>T)
c.1675A>T (n.1675A>T)
c.1295A>T (p.Glu432Val)
c.1343A>T (p.Glu448Val)
c.1439A>T (p.Glu480Val)
c.1385A>T (p.Glu462Val)
c.1346A>T (p.Glu449Val)
18g.33738868A=CA2294855718ASXL3c.1467A= (p.Glu489=)
c.1464A= (p.Glu488=)
c.*588A= (n.*588A=)
c.*1123A= (n.*1123A=)
c.1676A= (n.1676A=)
c.1296A= (p.Glu432=)
c.1344A= (p.Glu448=)
c.1440A= (p.Glu480=)
c.1386A= (p.Glu462=)
c.1347A= (p.Glu449=)
18g.33738868A>CCA402175441ASXL3c.1467A>C (p.Glu489Asp)
c.1464A>C (p.Glu488Asp)
c.*588A>C (n.*588A>C)
c.*1123A>C (n.*1123A>C)
c.1676A>C (n.1676A>C)
c.1296A>C (p.Glu432Asp)
c.1344A>C (p.Glu448Asp)
c.1440A>C (p.Glu480Asp)
c.1386A>C (p.Glu462Asp)
c.1347A>C (p.Glu449Asp)
18g.33738868A>GCA297786707ASXL3c.1467A>G (p.Glu489=)
c.1464A>G (p.Glu488=)
c.*588A>G (n.*588A>G)
c.*1123A>G (n.*1123A>G)
c.1676A>G (n.1676A>G)
c.1296A>G (p.Glu432=)
c.1344A>G (p.Glu448=)
c.1440A>G (p.Glu480=)
c.1386A>G (p.Glu462=)
c.1347A>G (p.Glu449=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33738868A>TCA402175445ASXL3c.1467A>T (p.Glu489Asp)
c.1464A>T (p.Glu488Asp)
c.*588A>T (n.*588A>T)
c.*1123A>T (n.*1123A>T)
c.1676A>T (n.1676A>T)
c.1296A>T (p.Glu432Asp)
c.1344A>T (p.Glu448Asp)
c.1440A>T (p.Glu480Asp)
c.1386A>T (p.Glu462Asp)
c.1347A>T (p.Glu449Asp)
18g.33738869G>ACA402175449ASXL3c.1468G>A (p.Glu490Lys)
c.1465G>A (p.Glu489Lys)
c.*589G>A (n.*589G>A)
c.*1124G>A (n.*1124G>A)
c.1677G>A (n.1677G>A)
c.1297G>A (p.Glu433Lys)
c.1345G>A (p.Glu449Lys)
c.1441G>A (p.Glu481Lys)
c.1387G>A (p.Glu463Lys)
c.1348G>A (p.Glu450Lys)
18g.33738869G>CCA402175451ASXL3c.1468G>C (p.Glu490Gln)
c.1465G>C (p.Glu489Gln)
c.*589G>C (n.*589G>C)
c.*1124G>C (n.*1124G>C)
c.1677G>C (n.1677G>C)
c.1297G>C (p.Glu433Gln)
c.1345G>C (p.Glu449Gln)
c.1441G>C (p.Glu481Gln)
c.1387G>C (p.Glu463Gln)
c.1348G>C (p.Glu450Gln)
18g.33738869G>TCA402175452ASXL3c.1468G>T (p.Glu490Ter)
c.1465G>T (p.Glu489Ter)
c.*589G>T (n.*589G>T)
c.*1124G>T (n.*1124G>T)
c.1677G>T (n.1677G>T)
c.1297G>T (p.Glu433Ter)
c.1345G>T (p.Glu449Ter)
c.1441G>T (p.Glu481Ter)
c.1387G>T (p.Glu463Ter)
c.1348G>T (p.Glu450Ter)
 ClinVar dbSNP
18g.33738870A>CCA402175455ASXL3c.1469A>C (p.Glu490Ala)
c.1466A>C (p.Glu489Ala)
c.*590A>C (n.*590A>C)
c.*1125A>C (n.*1125A>C)
c.1678A>C (n.1678A>C)
c.1298A>C (p.Glu433Ala)
c.1346A>C (p.Glu449Ala)
c.1442A>C (p.Glu481Ala)
c.1388A>C (p.Glu463Ala)
c.1349A>C (p.Glu450Ala)
18g.33738870A>GCA402175459ASXL3c.1469A>G (p.Glu490Gly)
c.1466A>G (p.Glu489Gly)
c.*590A>G (n.*590A>G)
c.*1125A>G (n.*1125A>G)
c.1678A>G (n.1678A>G)
c.1298A>G (p.Glu433Gly)
c.1346A>G (p.Glu449Gly)
c.1442A>G (p.Glu481Gly)
c.1388A>G (p.Glu463Gly)
c.1349A>G (p.Glu450Gly)
18g.33738870A>TCA402175457ASXL3c.1469A>T (p.Glu490Val)
c.1466A>T (p.Glu489Val)
c.*590A>T (n.*590A>T)
c.*1125A>T (n.*1125A>T)
c.1678A>T (n.1678A>T)
c.1298A>T (p.Glu433Val)
c.1346A>T (p.Glu449Val)
c.1442A>T (p.Glu481Val)
c.1388A>T (p.Glu463Val)
c.1349A>T (p.Glu450Val)
18g.33738871A>CCA402175462ASXL3c.1470A>C (p.Glu490Asp)
c.1467A>C (p.Glu489Asp)
c.*591A>C (n.*591A>C)
c.*1126A>C (n.*1126A>C)
c.1679A>C (n.1679A>C)
c.1299A>C (p.Glu433Asp)
c.1347A>C (p.Glu449Asp)
c.1443A>C (p.Glu481Asp)
c.1389A>C (p.Glu463Asp)
c.1350A>C (p.Glu450Asp)
18g.33738871A>GCA503768362ASXL3c.1470A>G (p.Glu490=)
c.1467A>G (p.Glu489=)
c.*591A>G (n.*591A>G)
c.*1126A>G (n.*1126A>G)
c.1679A>G (n.1679A>G)
c.1299A>G (p.Glu433=)
c.1347A>G (p.Glu449=)
c.1443A>G (p.Glu481=)
c.1389A>G (p.Glu463=)
c.1350A>G (p.Glu450=)
 dbSNP gnomAD v3 gnomAD v4
18g.33738871A>TCA402175463ASXL3c.1470A>T (p.Glu490Asp)
c.1467A>T (p.Glu489Asp)
c.*591A>T (n.*591A>T)
c.*1126A>T (n.*1126A>T)
c.1679A>T (n.1679A>T)
c.1299A>T (p.Glu433Asp)
c.1347A>T (p.Glu449Asp)
c.1443A>T (p.Glu481Asp)
c.1389A>T (p.Glu463Asp)
c.1350A>T (p.Glu450Asp)
18g.33738872C>ACA402175466ASXL3c.1471C>A (p.Pro491Thr)
c.1468C>A (p.Pro490Thr)
c.*592C>A (n.*592C>A)
c.*1127C>A (n.*1127C>A)
c.1680C>A (n.1680C>A)
c.1300C>A (p.Pro434Thr)
c.1348C>A (p.Pro450Thr)
c.1444C>A (p.Pro482Thr)
c.1390C>A (p.Pro464Thr)
c.1351C>A (p.Pro451Thr)
 dbSNP gnomAD v3 gnomAD v4
18g.33738872C=CA2294855719ASXL3c.1471C= (p.Pro491=)
c.1468C= (p.Pro490=)
c.*592C= (n.*592C=)
c.*1127C= (n.*1127C=)
c.1680C= (n.1680C=)
c.1300C= (p.Pro434=)
c.1348C= (p.Pro450=)
c.1444C= (p.Pro482=)
c.1390C= (p.Pro464=)
c.1351C= (p.Pro451=)
18g.33738872C>GCA402175468ASXL3c.1471C>G (p.Pro491Ala)
c.1468C>G (p.Pro490Ala)
c.*592C>G (n.*592C>G)
c.*1127C>G (n.*1127C>G)
c.1680C>G (n.1680C>G)
c.1300C>G (p.Pro434Ala)
c.1348C>G (p.Pro450Ala)
c.1444C>G (p.Pro482Ala)
c.1390C>G (p.Pro464Ala)
c.1351C>G (p.Pro451Ala)
18g.33738872C>TCA402175471ASXL3c.1471C>T (p.Pro491Ser)
c.1468C>T (p.Pro490Ser)
c.*592C>T (n.*592C>T)
c.*1127C>T (n.*1127C>T)
c.1680C>T (n.1680C>T)
c.1300C>T (p.Pro434Ser)
c.1348C>T (p.Pro450Ser)
c.1444C>T (p.Pro482Ser)
c.1390C>T (p.Pro464Ser)
c.1351C>T (p.Pro451Ser)
18g.33738873C>ACA402175473ASXL3c.1472C>A (p.Pro491His)
c.1469C>A (p.Pro490His)
c.*593C>A (n.*593C>A)
c.*1128C>A (n.*1128C>A)
c.1681C>A (n.1681C>A)
c.1301C>A (p.Pro434His)
c.1349C>A (p.Pro450His)
c.1445C>A (p.Pro482His)
c.1391C>A (p.Pro464His)
c.1352C>A (p.Pro451His)
18g.33738873C>GCA402175476ASXL3c.1472C>G (p.Pro491Arg)
c.1469C>G (p.Pro490Arg)
c.*593C>G (n.*593C>G)
c.*1128C>G (n.*1128C>G)
c.1681C>G (n.1681C>G)
c.1301C>G (p.Pro434Arg)
c.1349C>G (p.Pro450Arg)
c.1445C>G (p.Pro482Arg)
c.1391C>G (p.Pro464Arg)
c.1352C>G (p.Pro451Arg)
18g.33738873C>TCA402175478ASXL3c.1472C>T (p.Pro491Leu)
c.1469C>T (p.Pro490Leu)
c.*593C>T (n.*593C>T)
c.*1128C>T (n.*1128C>T)
c.1681C>T (n.1681C>T)
c.1301C>T (p.Pro434Leu)
c.1349C>T (p.Pro450Leu)
c.1445C>T (p.Pro482Leu)
c.1391C>T (p.Pro464Leu)
c.1352C>T (p.Pro451Leu)
18g.33738874C>ACA503768365ASXL3c.1473C>A (p.Pro491=)
c.1470C>A (p.Pro490=)
c.*594C>A (n.*594C>A)
c.*1129C>A (n.*1129C>A)
c.1682C>A (n.1682C>A)
c.1302C>A (p.Pro434=)
c.1350C>A (p.Pro450=)
c.1446C>A (p.Pro482=)
c.1392C>A (p.Pro464=)
c.1353C>A (p.Pro451=)
 gnomAD v4
18g.33738874C>GCA503768366ASXL3c.1473C>G (p.Pro491=)
c.1470C>G (p.Pro490=)
c.*594C>G (n.*594C>G)
c.*1129C>G (n.*1129C>G)
c.1682C>G (n.1682C>G)
c.1302C>G (p.Pro434=)
c.1350C>G (p.Pro450=)
c.1446C>G (p.Pro482=)
c.1392C>G (p.Pro464=)
c.1353C>G (p.Pro451=)
18g.33738874C>TCA503768367ASXL3c.1473C>T (p.Pro491=)
c.1470C>T (p.Pro490=)
c.*594C>T (n.*594C>T)
c.*1129C>T (n.*1129C>T)
c.1682C>T (n.1682C>T)
c.1302C>T (p.Pro434=)
c.1350C>T (p.Pro450=)
c.1446C>T (p.Pro482=)
c.1392C>T (p.Pro464=)
c.1353C>T (p.Pro451=)
18g.33738875C>ACA402175481ASXL3c.1474C>A (p.Gln492Lys)
c.1471C>A (p.Gln491Lys)
c.*595C>A (n.*595C>A)
c.*1130C>A (n.*1130C>A)
c.1683C>A (n.1683C>A)
c.1303C>A (p.Gln435Lys)
c.1351C>A (p.Gln451Lys)
c.1447C>A (p.Gln483Lys)
c.1393C>A (p.Gln465Lys)
c.1354C>A (p.Gln452Lys)
18g.33738875C=CA2294855720ASXL3c.1474C= (p.Gln492=)
c.1471C= (p.Gln491=)
c.*595C= (n.*595C=)
c.*1130C= (n.*1130C=)
c.1683C= (n.1683C=)
c.1303C= (p.Gln435=)
c.1351C= (p.Gln451=)
c.1447C= (p.Gln483=)
c.1393C= (p.Gln465=)
c.1354C= (p.Gln452=)
18g.33738875C>GCA402175483ASXL3c.1474C>G (p.Gln492Glu)
c.1471C>G (p.Gln491Glu)
c.*595C>G (n.*595C>G)
c.*1130C>G (n.*1130C>G)
c.1683C>G (n.1683C>G)
c.1303C>G (p.Gln435Glu)
c.1351C>G (p.Gln451Glu)
c.1447C>G (p.Gln483Glu)
c.1393C>G (p.Gln465Glu)
c.1354C>G (p.Gln452Glu)
18g.33738875C>TCA16616935ASXL3c.1474C>T (p.Gln492Ter)
c.1471C>T (p.Gln491Ter)
c.*595C>T (n.*595C>T)
c.*1130C>T (n.*1130C>T)
c.1683C>T (n.1683C>T)
c.1303C>T (p.Gln435Ter)
c.1351C>T (p.Gln451Ter)
c.1447C>T (p.Gln483Ter)
c.1393C>T (p.Gln465Ter)
c.1354C>T (p.Gln452Ter)
 ClinVar dbSNP
18g.33738876A>CCA402175489ASXL3c.1475A>C (p.Gln492Pro)
c.1472A>C (p.Gln491Pro)
c.*596A>C (n.*596A>C)
c.*1131A>C (n.*1131A>C)
c.1684A>C (n.1684A>C)
c.1304A>C (p.Gln435Pro)
c.1352A>C (p.Gln451Pro)
c.1448A>C (p.Gln483Pro)
c.1394A>C (p.Gln465Pro)
c.1355A>C (p.Gln452Pro)
18g.33738876A>GCA402175487ASXL3c.1475A>G (p.Gln492Arg)
c.1472A>G (p.Gln491Arg)
c.*596A>G (n.*596A>G)
c.*1131A>G (n.*1131A>G)
c.1684A>G (n.1684A>G)
c.1304A>G (p.Gln435Arg)
c.1352A>G (p.Gln451Arg)
c.1448A>G (p.Gln483Arg)
c.1394A>G (p.Gln465Arg)
c.1355A>G (p.Gln452Arg)
18g.33738876A>TCA402175485ASXL3c.1475A>T (p.Gln492Leu)
c.1472A>T (p.Gln491Leu)
c.*596A>T (n.*596A>T)
c.*1131A>T (n.*1131A>T)
c.1684A>T (n.1684A>T)
c.1304A>T (p.Gln435Leu)
c.1352A>T (p.Gln451Leu)
c.1448A>T (p.Gln483Leu)
c.1394A>T (p.Gln465Leu)
c.1355A>T (p.Gln452Leu)
18g.33738878delCA645601886ASXL3c.1477del (p.Ile493Ter)
c.1474del (p.Ile492Ter)
c.*598del (n.*598del)
c.*1133del (n.*1133del)
c.1686del (n.1686del)
c.1306del (p.Ile436Ter)
c.1354del (p.Ile452Ter)
c.1450del (p.Ile484Ter)
c.1396del (p.Ile466Ter)
c.1357del (p.Ile453Ter)
 COSMIC COSMIC
18g.33738877A=CA2294855721ASXL3c.1476A= (p.Gln492=)
c.1473A= (p.Gln491=)
c.*597A= (n.*597A=)
c.*1132A= (n.*1132A=)
c.1685A= (n.1685A=)
c.1305A= (p.Gln435=)
c.1353A= (p.Gln451=)
c.1449A= (p.Gln483=)
c.1395A= (p.Gln465=)
c.1356A= (p.Gln452=)
18g.33738877A>CCA402175496ASXL3c.1476A>C (p.Gln492His)
c.1473A>C (p.Gln491His)
c.*597A>C (n.*597A>C)
c.*1132A>C (n.*1132A>C)
c.1685A>C (n.1685A>C)
c.1305A>C (p.Gln435His)
c.1353A>C (p.Gln451His)
c.1449A>C (p.Gln483His)
c.1395A>C (p.Gln465His)
c.1356A>C (p.Gln452His)
18g.33738877A>GCA8933758ASXL3c.1476A>G (p.Gln492=)
c.1473A>G (p.Gln491=)
c.*597A>G (n.*597A>G)
c.*1132A>G (n.*1132A>G)
c.1685A>G (n.1685A>G)
c.1305A>G (p.Gln435=)
c.1353A>G (p.Gln451=)
c.1449A>G (p.Gln483=)
c.1395A>G (p.Gln465=)
c.1356A>G (p.Gln452=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33738877A>TCA402175494ASXL3c.1476A>T (p.Gln492His)
c.1473A>T (p.Gln491His)
c.*597A>T (n.*597A>T)
c.*1132A>T (n.*1132A>T)
c.1685A>T (n.1685A>T)
c.1305A>T (p.Gln435His)
c.1353A>T (p.Gln451His)
c.1449A>T (p.Gln483His)
c.1395A>T (p.Gln465His)
c.1356A>T (p.Gln452His)
18g.33738878A=CA2294855722ASXL3c.1477A= (p.Ile493=)
c.1474A= (p.Ile492=)
c.*598A= (n.*598A=)
c.*1133A= (n.*1133A=)
c.1686A= (n.1686A=)
c.1306A= (p.Ile436=)
c.1354A= (p.Ile452=)
c.1450A= (p.Ile484=)
c.1396A= (p.Ile466=)
c.1357A= (p.Ile453=)
18g.33738878A>CCA297786710ASXL3c.1477A>C (p.Ile493Leu)
c.1474A>C (p.Ile492Leu)
c.*598A>C (n.*598A>C)
c.*1133A>C (n.*1133A>C)
c.1686A>C (n.1686A>C)
c.1306A>C (p.Ile436Leu)
c.1354A>C (p.Ile452Leu)
c.1450A>C (p.Ile484Leu)
c.1396A>C (p.Ile466Leu)
c.1357A>C (p.Ile453Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33738878A>GCA402175500ASXL3c.1477A>G (p.Ile493Val)
c.1474A>G (p.Ile492Val)
c.*598A>G (n.*598A>G)
c.*1133A>G (n.*1133A>G)
c.1686A>G (n.1686A>G)
c.1306A>G (p.Ile436Val)
c.1354A>G (p.Ile452Val)
c.1450A>G (p.Ile484Val)
c.1396A>G (p.Ile466Val)
c.1357A>G (p.Ile453Val)
18g.33738878A>TCA402175502ASXL3c.1477A>T (p.Ile493Leu)
c.1474A>T (p.Ile492Leu)
c.*598A>T (n.*598A>T)
c.*1133A>T (n.*1133A>T)
c.1686A>T (n.1686A>T)
c.1306A>T (p.Ile436Leu)
c.1354A>T (p.Ile452Leu)
c.1450A>T (p.Ile484Leu)
c.1396A>T (p.Ile466Leu)
c.1357A>T (p.Ile453Leu)
18g.33738879T>ACA402175505ASXL3c.1478T>A (p.Ile493Lys)
c.1475T>A (p.Ile492Lys)
c.*599T>A (n.*599T>A)
c.*1134T>A (n.*1134T>A)
c.1687T>A (n.1687T>A)
c.1307T>A (p.Ile436Lys)
c.1355T>A (p.Ile452Lys)
c.1451T>A (p.Ile484Lys)
c.1397T>A (p.Ile466Lys)
c.1358T>A (p.Ile453Lys)
18g.33738879T>CCA402175507ASXL3c.1478T>C (p.Ile493Thr)
c.1475T>C (p.Ile492Thr)
c.*599T>C (n.*599T>C)
c.*1134T>C (n.*1134T>C)
c.1687T>C (n.1687T>C)
c.1307T>C (p.Ile436Thr)
c.1355T>C (p.Ile452Thr)
c.1451T>C (p.Ile484Thr)
c.1397T>C (p.Ile466Thr)
c.1358T>C (p.Ile453Thr)
18g.33738879T>GCA402175510ASXL3c.1478T>G (p.Ile493Arg)
c.1475T>G (p.Ile492Arg)
c.*599T>G (n.*599T>G)
c.*1134T>G (n.*1134T>G)
c.1687T>G (n.1687T>G)
c.1307T>G (p.Ile436Arg)
c.1355T>G (p.Ile452Arg)
c.1451T>G (p.Ile484Arg)
c.1397T>G (p.Ile466Arg)
c.1358T>G (p.Ile453Arg)
18g.33738880A>CCA503768373ASXL3c.1479A>C (p.Ile493=)
c.1476A>C (p.Ile492=)
c.*600A>C (n.*600A>C)
c.*1135A>C (n.*1135A>C)
c.1688A>C (n.1688A>C)
c.1308A>C (p.Ile436=)
c.1356A>C (p.Ile452=)
c.1452A>C (p.Ile484=)
c.1398A>C (p.Ile466=)
c.1359A>C (p.Ile453=)
18g.33738880A>GCA402175512ASXL3c.1479A>G (p.Ile493Met)
c.1476A>G (p.Ile492Met)
c.*600A>G (n.*600A>G)
c.*1135A>G (n.*1135A>G)
c.1688A>G (n.1688A>G)
c.1308A>G (p.Ile436Met)
c.1356A>G (p.Ile452Met)
c.1452A>G (p.Ile484Met)
c.1398A>G (p.Ile466Met)
c.1359A>G (p.Ile453Met)
18g.33738880A>TCA503768374ASXL3c.1479A>T (p.Ile493=)
c.1476A>T (p.Ile492=)
c.*600A>T (n.*600A>T)
c.*1135A>T (n.*1135A>T)
c.1688A>T (n.1688A>T)
c.1308A>T (p.Ile436=)
c.1356A>T (p.Ile452=)
c.1452A>T (p.Ile484=)
c.1398A>T (p.Ile466=)
c.1359A>T (p.Ile453=)
18g.33738881G>ACA402175516ASXL3c.1480G>A (p.Ala494Thr)
c.1477G>A (p.Ala493Thr)
c.*601G>A (n.*601G>A)
c.*1136G>A (n.*1136G>A)
c.1689G>A (n.1689G>A)
c.1309G>A (p.Ala437Thr)
c.1357G>A (p.Ala453Thr)
c.1453G>A (p.Ala485Thr)
c.1399G>A (p.Ala467Thr)
c.1360G>A (p.Ala454Thr)
 dbSNP gnomAD v3 gnomAD v4
18g.33738881G>CCA402175518ASXL3c.1480G>C (p.Ala494Pro)
c.1477G>C (p.Ala493Pro)
c.*601G>C (n.*601G>C)
c.*1136G>C (n.*1136G>C)
c.1689G>C (n.1689G>C)
c.1309G>C (p.Ala437Pro)
c.1357G>C (p.Ala453Pro)
c.1453G>C (p.Ala485Pro)
c.1399G>C (p.Ala467Pro)
c.1360G>C (p.Ala454Pro)
18g.33738881G=CA2294855723ASXL3c.1480G= (p.Ala494=)
c.1477G= (p.Ala493=)
c.*601G= (n.*601G=)
c.*1136G= (n.*1136G=)
c.1689G= (n.1689G=)
c.1309G= (p.Ala437=)
c.1357G= (p.Ala453=)
c.1453G= (p.Ala485=)
c.1399G= (p.Ala467=)
c.1360G= (p.Ala454=)
18g.33738881G>TCA402175520ASXL3c.1480G>T (p.Ala494Ser)
c.1477G>T (p.Ala493Ser)
c.*601G>T (n.*601G>T)
c.*1136G>T (n.*1136G>T)
c.1689G>T (n.1689G>T)
c.1309G>T (p.Ala437Ser)
c.1357G>T (p.Ala453Ser)
c.1453G>T (p.Ala485Ser)
c.1399G>T (p.Ala467Ser)
c.1360G>T (p.Ala454Ser)
18g.33738881_33738883delinsGCACA2294855724ASXL3c.1480_1482delinsGCA (p.Ala494=)
c.1477_1479delinsGCA (p.Ala493=)
c.*601_*603delinsGCA (n.*601_*603delinsGCA)
c.*1136_*1138delinsGCA (n.*1136_*1138delinsGCA)
c.1689_1691delinsGCA (n.1689_1691delinsGCA)
c.1309_1311delinsGCA (p.Ala437=)
c.1357_1359delinsGCA (p.Ala453=)
c.1453_1455delinsGCA (p.Ala485=)
c.1399_1401delinsGCA (p.Ala467=)
c.1360_1362delinsGCA (p.Ala454=)
18g.33738882C>ACA402175526ASXL3c.1481C>A (p.Ala494Glu)
c.1478C>A (p.Ala493Glu)
c.*602C>A (n.*602C>A)
c.*1137C>A (n.*1137C>A)
c.1690C>A (n.1690C>A)
c.1310C>A (p.Ala437Glu)
c.1358C>A (p.Ala453Glu)
c.1454C>A (p.Ala485Glu)
c.1400C>A (p.Ala467Glu)
c.1361C>A (p.Ala454Glu)
18g.33738882C=CA2294855725ASXL3c.1481C= (p.Ala494=)
c.1478C= (p.Ala493=)
c.*602C= (n.*602C=)
c.*1137C= (n.*1137C=)
c.1690C= (n.1690C=)
c.1310C= (p.Ala437=)
c.1358C= (p.Ala453=)
c.1454C= (p.Ala485=)
c.1400C= (p.Ala467=)
c.1361C= (p.Ala454=)
18g.33738882C>GCA402175529ASXL3c.1481C>G (p.Ala494Gly)
c.1478C>G (p.Ala493Gly)
c.*602C>G (n.*602C>G)
c.*1137C>G (n.*1137C>G)
c.1690C>G (n.1690C>G)
c.1310C>G (p.Ala437Gly)
c.1358C>G (p.Ala453Gly)
c.1454C>G (p.Ala485Gly)
c.1400C>G (p.Ala467Gly)
c.1361C>G (p.Ala454Gly)
 dbSNP gnomAD v2
18g.33738882C>TCA402175522ASXL3c.1481C>T (p.Ala494Val)
c.1478C>T (p.Ala493Val)
c.*602C>T (n.*602C>T)
c.*1137C>T (n.*1137C>T)
c.1690C>T (n.1690C>T)
c.1310C>T (p.Ala437Val)
c.1358C>T (p.Ala453Val)
c.1454C>T (p.Ala485Val)
c.1400C>T (p.Ala467Val)
c.1361C>T (p.Ala454Val)
18g.33738883_33738884delCA1139666017ASXL3c.1482_1483del (p.Pro495SerfsTer2)
c.1479_1480del (p.Pro494SerfsTer2)
c.*603_*604del (n.*603_*604del)
c.*1138_*1139del (n.*1138_*1139del)
c.1691_1692del (n.1691_1692del)
c.1311_1312del (p.Pro438SerfsTer2)
c.1359_1360del (p.Pro454SerfsTer2)
c.1455_1456del (p.Pro486SerfsTer2)
c.1401_1402del (p.Pro468SerfsTer2)
c.1362_1363del (p.Pro455SerfsTer2)
 ClinVar dbSNP
18g.33738883A=CA2294855726ASXL3c.1482A= (p.Ala494=)
c.1479A= (p.Ala493=)
c.*603A= (n.*603A=)
c.*1138A= (n.*1138A=)
c.1691A= (n.1691A=)
c.1311A= (p.Ala437=)
c.1359A= (p.Ala453=)
c.1455A= (p.Ala485=)
c.1401A= (p.Ala467=)
c.1362A= (p.Ala454=)
18g.33738883A>CCA503768378ASXL3c.1482A>C (p.Ala494=)
c.1479A>C (p.Ala493=)
c.*603A>C (n.*603A>C)
c.*1138A>C (n.*1138A>C)
c.1691A>C (n.1691A>C)
c.1311A>C (p.Ala437=)
c.1359A>C (p.Ala453=)
c.1455A>C (p.Ala485=)
c.1401A>C (p.Ala467=)
c.1362A>C (p.Ala454=)
18g.33738883A>GCA503768379ASXL3c.1482A>G (p.Ala494=)
c.1479A>G (p.Ala493=)
c.*603A>G (n.*603A>G)
c.*1138A>G (n.*1138A>G)
c.1691A>G (n.1691A>G)
c.1311A>G (p.Ala437=)
c.1359A>G (p.Ala453=)
c.1455A>G (p.Ala485=)
c.1401A>G (p.Ala467=)
c.1362A>G (p.Ala454=)
 dbSNP
18g.33738883A>TCA503768380ASXL3c.1482A>T (p.Ala494=)
c.1479A>T (p.Ala493=)
c.*603A>T (n.*603A>T)
c.*1138A>T (n.*1138A>T)
c.1691A>T (n.1691A>T)
c.1311A>T (p.Ala437=)
c.1359A>T (p.Ala453=)
c.1455A>T (p.Ala485=)
c.1401A>T (p.Ala467=)
c.1362A>T (p.Ala454=)
18g.33738883_33738884insTGCTCA1139666018ASXL3c.1482_1483insTGCT (p.Pro495CysfsTer4)
c.1479_1480insTGCT (p.Pro494CysfsTer4)
c.*603_*604insTGCT (n.*603_*604insTGCT)
c.*1138_*1139insTGCT (n.*1138_*1139insTGCT)
c.1691_1692insTGCT (n.1691_1692insTGCT)
c.1311_1312insTGCT (p.Pro438CysfsTer4)
c.1359_1360insTGCT (p.Pro454CysfsTer4)
c.1455_1456insTGCT (p.Pro486CysfsTer4)
c.1401_1402insTGCT (p.Pro468CysfsTer4)
c.1362_1363insTGCT (p.Pro455CysfsTer4)
 ClinVar dbSNP
18g.33738884C>ACA402175532ASXL3c.1483C>A (p.Pro495Thr)
c.1480C>A (p.Pro494Thr)
c.*604C>A (n.*604C>A)
c.*1139C>A (n.*1139C>A)
c.1692C>A (n.1692C>A)
c.1312C>A (p.Pro438Thr)
c.1360C>A (p.Pro454Thr)
c.1456C>A (p.Pro486Thr)
c.1402C>A (p.Pro468Thr)
c.1363C>A (p.Pro455Thr)
18g.33738884C>GCA402175535ASXL3c.1483C>G (p.Pro495Ala)
c.1480C>G (p.Pro494Ala)
c.*604C>G (n.*604C>G)
c.*1139C>G (n.*1139C>G)
c.1692C>G (n.1692C>G)
c.1312C>G (p.Pro438Ala)
c.1360C>G (p.Pro454Ala)
c.1456C>G (p.Pro486Ala)
c.1402C>G (p.Pro468Ala)
c.1363C>G (p.Pro455Ala)
18g.33738884C>TCA402175537ASXL3c.1483C>T (p.Pro495Ser)
c.1480C>T (p.Pro494Ser)
c.*604C>T (n.*604C>T)
c.*1139C>T (n.*1139C>T)
c.1692C>T (n.1692C>T)
c.1312C>T (p.Pro438Ser)
c.1360C>T (p.Pro454Ser)
c.1456C>T (p.Pro486Ser)
c.1402C>T (p.Pro468Ser)
c.1363C>T (p.Pro455Ser)
 gnomAD v4
18g.33738885C>ACA402175541ASXL3c.1484C>A (p.Pro495His)
c.1481C>A (p.Pro494His)
c.*605C>A (n.*605C>A)
c.*1140C>A (n.*1140C>A)
c.1693C>A (n.1693C>A)
c.1313C>A (p.Pro438His)
c.1361C>A (p.Pro454His)
c.1457C>A (p.Pro486His)
c.1403C>A (p.Pro468His)
c.1364C>A (p.Pro455His)
18g.33738885C>GCA402175543ASXL3c.1484C>G (p.Pro495Arg)
c.1481C>G (p.Pro494Arg)
c.*605C>G (n.*605C>G)
c.*1140C>G (n.*1140C>G)
c.1693C>G (n.1693C>G)
c.1313C>G (p.Pro438Arg)
c.1361C>G (p.Pro454Arg)
c.1457C>G (p.Pro486Arg)
c.1403C>G (p.Pro468Arg)
c.1364C>G (p.Pro455Arg)
 gnomAD v4
18g.33738885C>TCA402175545ASXL3c.1484C>T (p.Pro495Leu)
c.1481C>T (p.Pro494Leu)
c.*605C>T (n.*605C>T)
c.*1140C>T (n.*1140C>T)
c.1693C>T (n.1693C>T)
c.1313C>T (p.Pro438Leu)
c.1361C>T (p.Pro454Leu)
c.1457C>T (p.Pro486Leu)
c.1403C>T (p.Pro468Leu)
c.1364C>T (p.Pro455Leu)
18g.33738886T>ACA503768384ASXL3c.1485T>A (p.Pro495=)
c.1482T>A (p.Pro494=)
c.*606T>A (n.*606T>A)
c.*1141T>A (n.*1141T>A)
c.1694T>A (n.1694T>A)
c.1314T>A (p.Pro438=)
c.1362T>A (p.Pro454=)
c.1458T>A (p.Pro486=)
c.1404T>A (p.Pro468=)
c.1365T>A (p.Pro455=)
18g.33738886T>CCA8933759ASXL3c.1485T>C (p.Pro495=)
c.1482T>C (p.Pro494=)
c.*606T>C (n.*606T>C)
c.*1141T>C (n.*1141T>C)
c.1694T>C (n.1694T>C)
c.1314T>C (p.Pro438=)
c.1362T>C (p.Pro454=)
c.1458T>C (p.Pro486=)
c.1404T>C (p.Pro468=)
c.1365T>C (p.Pro455=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33738886T>GCA503768385ASXL3c.1485T>G (p.Pro495=)
c.1482T>G (p.Pro494=)
c.*606T>G (n.*606T>G)
c.*1141T>G (n.*1141T>G)
c.1694T>G (n.1694T>G)
c.1314T>G (p.Pro438=)
c.1362T>G (p.Pro454=)
c.1458T>G (p.Pro486=)
c.1404T>G (p.Pro468=)
c.1365T>G (p.Pro455=)
18g.33738886T=CA2294855727ASXL3c.1485T= (p.Pro495=)
c.1482T= (p.Pro494=)
c.*606T= (n.*606T=)
c.*1141T= (n.*1141T=)
c.1694T= (n.1694T=)
c.1314T= (p.Pro438=)
c.1362T= (p.Pro454=)
c.1458T= (p.Pro486=)
c.1404T= (p.Pro468=)
c.1365T= (p.Pro455=)
18g.33738886_33738887delinsTCCA2294855728ASXL3c.1485_1486delinsTC (p.Pro495=)
c.1482_1483delinsTC (p.Pro494=)
c.*606_*607delinsTC (n.*606_*607delinsTC)
c.*1141_*1142delinsTC (n.*1141_*1142delinsTC)
c.1694_1695delinsTC (n.1694_1695delinsTC)
c.1314_1315delinsTC (p.Pro438=)
c.1362_1363delinsTC (p.Pro454=)
c.1458_1459delinsTC (p.Pro486=)
c.1404_1405delinsTC (p.Pro468=)
c.1365_1366delinsTC (p.Pro455=)
18g.33738887C>ACA402175552ASXL3c.1486C>A (p.Pro496Thr)
c.1483C>A (p.Pro495Thr)
c.*607C>A (n.*607C>A)
c.*1142C>A (n.*1142C>A)
c.1695C>A (n.1695C>A)
c.1315C>A (p.Pro439Thr)
c.1363C>A (p.Pro455Thr)
c.1459C>A (p.Pro487Thr)
c.1405C>A (p.Pro469Thr)
c.1366C>A (p.Pro456Thr)
18g.33738887C>GCA402175555ASXL3c.1486C>G (p.Pro496Ala)
c.1483C>G (p.Pro495Ala)
c.*607C>G (n.*607C>G)
c.*1142C>G (n.*1142C>G)
c.1695C>G (n.1695C>G)
c.1315C>G (p.Pro439Ala)
c.1363C>G (p.Pro455Ala)
c.1459C>G (p.Pro487Ala)
c.1405C>G (p.Pro469Ala)
c.1366C>G (p.Pro456Ala)
18g.33738887C>TCA402175558ASXL3c.1486C>T (p.Pro496Ser)
c.1483C>T (p.Pro495Ser)
c.*607C>T (n.*607C>T)
c.*1142C>T (n.*1142C>T)
c.1695C>T (n.1695C>T)
c.1315C>T (p.Pro439Ser)
c.1363C>T (p.Pro455Ser)
c.1459C>T (p.Pro487Ser)
c.1405C>T (p.Pro469Ser)
c.1366C>T (p.Pro456Ser)
18g.33738888delCA10605577ASXL3c.1487del (p.Pro496LeufsTer10)
c.1484del (p.Pro495LeufsTer10)
c.*608del (n.*608del)
c.*1143del (n.*1143del)
c.1696del (n.1696del)
c.1316del (p.Pro439LeufsTer10)
c.1364del (p.Pro455LeufsTer10)
c.1460del (p.Pro487LeufsTer10)
c.1406del (p.Pro469LeufsTer10)
c.1367del (p.Pro456LeufsTer10)
 ClinVar dbSNP
18g.33738888C>ACA402175560ASXL3c.1487C>A (p.Pro496His)
c.1484C>A (p.Pro495His)
c.*608C>A (n.*608C>A)
c.*1143C>A (n.*1143C>A)
c.1696C>A (n.1696C>A)
c.1316C>A (p.Pro439His)
c.1364C>A (p.Pro455His)
c.1460C>A (p.Pro487His)
c.1406C>A (p.Pro469His)
c.1367C>A (p.Pro456His)
18g.33738888C=CA2294855729ASXL3c.1487C= (p.Pro496=)
c.1484C= (p.Pro495=)
c.*608C= (n.*608C=)
c.*1143C= (n.*1143C=)
c.1696C= (n.1696C=)
c.1316C= (p.Pro439=)
c.1364C= (p.Pro455=)
c.1460C= (p.Pro487=)
c.1406C= (p.Pro469=)
c.1367C= (p.Pro456=)
18g.33738888C>GCA402175562ASXL3c.1487C>G (p.Pro496Arg)
c.1484C>G (p.Pro495Arg)
c.*608C>G (n.*608C>G)
c.*1143C>G (n.*1143C>G)
c.1696C>G (n.1696C>G)
c.1316C>G (p.Pro439Arg)
c.1364C>G (p.Pro455Arg)
c.1460C>G (p.Pro487Arg)
c.1406C>G (p.Pro469Arg)
c.1367C>G (p.Pro456Arg)
 dbSNP gnomAD v3 gnomAD v4
18g.33738888C>TCA8933760ASXL3c.1487C>T (p.Pro496Leu)
c.1484C>T (p.Pro495Leu)
c.*608C>T (n.*608C>T)
c.*1143C>T (n.*1143C>T)
c.1696C>T (n.1696C>T)
c.1316C>T (p.Pro439Leu)
c.1364C>T (p.Pro455Leu)
c.1460C>T (p.Pro487Leu)
c.1406C>T (p.Pro469Leu)
c.1367C>T (p.Pro456Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33738889T>ACA503768391ASXL3c.1488T>A (p.Pro496=)
c.1485T>A (p.Pro495=)
c.*609T>A (n.*609T>A)
c.*1144T>A (n.*1144T>A)
c.1697T>A (n.1697T>A)
c.1317T>A (p.Pro439=)
c.1365T>A (p.Pro455=)
c.1461T>A (p.Pro487=)
c.1407T>A (p.Pro469=)
c.1368T>A (p.Pro456=)
18g.33738889T>CCA503768389ASXL3c.1488T>C (p.Pro496=)
c.1485T>C (p.Pro495=)
c.*609T>C (n.*609T>C)
c.*1144T>C (n.*1144T>C)
c.1697T>C (n.1697T>C)
c.1317T>C (p.Pro439=)
c.1365T>C (p.Pro455=)
c.1461T>C (p.Pro487=)
c.1407T>C (p.Pro469=)
c.1368T>C (p.Pro456=)
 gnomAD v4
18g.33738889T>GCA503768390ASXL3c.1488T>G (p.Pro496=)
c.1485T>G (p.Pro495=)
c.*609T>G (n.*609T>G)
c.*1144T>G (n.*1144T>G)
c.1697T>G (n.1697T>G)
c.1317T>G (p.Pro439=)
c.1365T>G (p.Pro455=)
c.1461T>G (p.Pro487=)
c.1407T>G (p.Pro469=)
c.1368T>G (p.Pro456=)
18g.33738889_33738892dupCA658791347ASXL3c.1488_1491dup (p.Asp498Ter)
c.1485_1488dup (p.Asp497Ter)
c.*609_*612dup (n.*609_*612dup)
c.*1144_*1147dup (n.*1144_*1147dup)
c.1697_1700dup (n.1697_1700dup)
c.1317_1320dup (p.Asp441Ter)
c.1365_1368dup (p.Asp457Ter)
c.1461_1464dup (p.Asp489Ter)
c.1407_1410dup (p.Asp471Ter)
c.1368_1371dup (p.Asp458Ter)
18g.33738890G>ACA402175568ASXL3c.1489G>A (p.Glu497Lys)
c.1486G>A (p.Glu496Lys)
c.*610G>A (n.*610G>A)
c.*1145G>A (n.*1145G>A)
c.1698G>A (n.1698G>A)
c.1318G>A (p.Glu440Lys)
c.1366G>A (p.Glu456Lys)
c.1462G>A (p.Glu488Lys)
c.1408G>A (p.Glu470Lys)
c.1369G>A (p.Glu457Lys)
 COSMIC COSMIC
18g.33738890G>CCA402175570ASXL3c.1489G>C (p.Glu497Gln)
c.1486G>C (p.Glu496Gln)
c.*610G>C (n.*610G>C)
c.*1145G>C (n.*1145G>C)
c.1698G>C (n.1698G>C)
c.1318G>C (p.Glu440Gln)
c.1366G>C (p.Glu456Gln)
c.1462G>C (p.Glu488Gln)
c.1408G>C (p.Glu470Gln)
c.1369G>C (p.Glu457Gln)
18g.33738890G>TCA402175566ASXL3c.1489G>T (p.Glu497Ter)
c.1486G>T (p.Glu496Ter)
c.*610G>T (n.*610G>T)
c.*1145G>T (n.*1145G>T)
c.1698G>T (n.1698G>T)
c.1318G>T (p.Glu440Ter)
c.1366G>T (p.Glu456Ter)
c.1462G>T (p.Glu488Ter)
c.1408G>T (p.Glu470Ter)
c.1369G>T (p.Glu457Ter)
18g.33738891A>CCA402175572ASXL3c.1490A>C (p.Glu497Ala)
c.1487A>C (p.Glu496Ala)
c.*611A>C (n.*611A>C)
c.*1146A>C (n.*1146A>C)
c.1699A>C (n.1699A>C)
c.1319A>C (p.Glu440Ala)
c.1367A>C (p.Glu456Ala)
c.1463A>C (p.Glu488Ala)
c.1409A>C (p.Glu470Ala)
c.1370A>C (p.Glu457Ala)
18g.33738891A>GCA402175576ASXL3c.1490A>G (p.Glu497Gly)
c.1487A>G (p.Glu496Gly)
c.*611A>G (n.*611A>G)
c.*1146A>G (n.*1146A>G)
c.1699A>G (n.1699A>G)
c.1319A>G (p.Glu440Gly)
c.1367A>G (p.Glu456Gly)
c.1463A>G (p.Glu488Gly)
c.1409A>G (p.Glu470Gly)
c.1370A>G (p.Glu457Gly)
18g.33738891A>TCA402175574ASXL3c.1490A>T (p.Glu497Val)
c.1487A>T (p.Glu496Val)
c.*611A>T (n.*611A>T)
c.*1146A>T (n.*1146A>T)
c.1699A>T (n.1699A>T)
c.1319A>T (p.Glu440Val)
c.1367A>T (p.Glu456Val)
c.1463A>T (p.Glu488Val)
c.1409A>T (p.Glu470Val)
c.1370A>T (p.Glu457Val)
18g.33738892A>CCA402175579ASXL3c.1491A>C (p.Glu497Asp)
c.1488A>C (p.Glu496Asp)
c.*612A>C (n.*612A>C)
c.*1147A>C (n.*1147A>C)
c.1700A>C (n.1700A>C)
c.1320A>C (p.Glu440Asp)
c.1368A>C (p.Glu456Asp)
c.1464A>C (p.Glu488Asp)
c.1410A>C (p.Glu470Asp)
c.1371A>C (p.Glu457Asp)
18g.33738892A>GCA503768393ASXL3c.1491A>G (p.Glu497=)
c.1488A>G (p.Glu496=)
c.*612A>G (n.*612A>G)
c.*1147A>G (n.*1147A>G)
c.1700A>G (n.1700A>G)
c.1320A>G (p.Glu440=)
c.1368A>G (p.Glu456=)
c.1464A>G (p.Glu488=)
c.1410A>G (p.Glu470=)
c.1371A>G (p.Glu457=)
18g.33738892A>TCA402175581ASXL3c.1491A>T (p.Glu497Asp)
c.1488A>T (p.Glu496Asp)
c.*612A>T (n.*612A>T)
c.*1147A>T (n.*1147A>T)
c.1700A>T (n.1700A>T)
c.1320A>T (p.Glu440Asp)
c.1368A>T (p.Glu456Asp)
c.1464A>T (p.Glu488Asp)
c.1410A>T (p.Glu470Asp)
c.1371A>T (p.Glu457Asp)
18g.33738893G>ACA402175582ASXL3c.1492G>A (p.Asp498Asn)
c.1489G>A (p.Asp497Asn)
c.*613G>A (n.*613G>A)
c.*1148G>A (n.*1148G>A)
c.1701G>A (n.1701G>A)
c.1321G>A (p.Asp441Asn)
c.1369G>A (p.Asp457Asn)
c.1465G>A (p.Asp489Asn)
c.1411G>A (p.Asp471Asn)
c.1372G>A (p.Asp458Asn)
18g.33738893G>CCA402175584ASXL3c.1492G>C (p.Asp498His)
c.1489G>C (p.Asp497His)
c.*613G>C (n.*613G>C)
c.*1148G>C (n.*1148G>C)
c.1701G>C (n.1701G>C)
c.1321G>C (p.Asp441His)
c.1369G>C (p.Asp457His)
c.1465G>C (p.Asp489His)
c.1411G>C (p.Asp471His)
c.1372G>C (p.Asp458His)
18g.33738893G>TCA402175586ASXL3c.1492G>T (p.Asp498Tyr)
c.1489G>T (p.Asp497Tyr)
c.*613G>T (n.*613G>T)
c.*1148G>T (n.*1148G>T)
c.1701G>T (n.1701G>T)
c.1321G>T (p.Asp441Tyr)
c.1369G>T (p.Asp457Tyr)
c.1465G>T (p.Asp489Tyr)
c.1411G>T (p.Asp471Tyr)
c.1372G>T (p.Asp458Tyr)
18g.33738894A>CCA402175589ASXL3c.1493A>C (p.Asp498Ala)
c.1490A>C (p.Asp497Ala)
c.*614A>C (n.*614A>C)
c.*1149A>C (n.*1149A>C)
c.1702A>C (n.1702A>C)
c.1322A>C (p.Asp441Ala)
c.1370A>C (p.Asp457Ala)
c.1466A>C (p.Asp489Ala)
c.1412A>C (p.Asp471Ala)
c.1373A>C (p.Asp458Ala)
18g.33738894A>GCA402175592ASXL3c.1493A>G (p.Asp498Gly)
c.1490A>G (p.Asp497Gly)
c.*614A>G (n.*614A>G)
c.*1149A>G (n.*1149A>G)
c.1702A>G (n.1702A>G)
c.1322A>G (p.Asp441Gly)
c.1370A>G (p.Asp457Gly)
c.1466A>G (p.Asp489Gly)
c.1412A>G (p.Asp471Gly)
c.1373A>G (p.Asp458Gly)
 gnomAD v4
18g.33738894A>TCA402175593ASXL3c.1493A>T (p.Asp498Val)
c.1490A>T (p.Asp497Val)
c.*614A>T (n.*614A>T)
c.*1149A>T (n.*1149A>T)
c.1702A>T (n.1702A>T)
c.1322A>T (p.Asp441Val)
c.1370A>T (p.Asp457Val)
c.1466A>T (p.Asp489Val)
c.1412A>T (p.Asp471Val)
c.1373A>T (p.Asp458Val)
18g.33738895T>ACA8933761ASXL3c.1494T>A (p.Asp498Glu)
c.1491T>A (p.Asp497Glu)
c.*615T>A (n.*615T>A)
c.*1150T>A (n.*1150T>A)
c.1703T>A (n.1703T>A)
c.1323T>A (p.Asp441Glu)
c.1371T>A (p.Asp457Glu)
c.1467T>A (p.Asp489Glu)
c.1413T>A (p.Asp471Glu)
c.1374T>A (p.Asp458Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33738895T>CCA503768395ASXL3c.1494T>C (p.Asp498=)
c.1491T>C (p.Asp497=)
c.*615T>C (n.*615T>C)
c.*1150T>C (n.*1150T>C)
c.1703T>C (n.1703T>C)
c.1323T>C (p.Asp441=)
c.1371T>C (p.Asp457=)
c.1467T>C (p.Asp489=)
c.1413T>C (p.Asp471=)
c.1374T>C (p.Asp458=)
18g.33738895T>GCA402175596ASXL3c.1494T>G (p.Asp498Glu)
c.1491T>G (p.Asp497Glu)
c.*615T>G (n.*615T>G)
c.*1150T>G (n.*1150T>G)
c.1703T>G (n.1703T>G)
c.1323T>G (p.Asp441Glu)
c.1371T>G (p.Asp457Glu)
c.1467T>G (p.Asp489Glu)
c.1413T>G (p.Asp471Glu)
c.1374T>G (p.Asp458Glu)
 dbSNP
18g.33738895T=CA2294855730ASXL3c.1494T= (p.Asp498=)
c.1491T= (p.Asp497=)
c.*615T= (n.*615T=)
c.*1150T= (n.*1150T=)
c.1703T= (n.1703T=)
c.1323T= (p.Asp441=)
c.1371T= (p.Asp457=)
c.1467T= (p.Asp489=)
c.1413T= (p.Asp471=)
c.1374T= (p.Asp458=)
18g.33738895dupCA658791348ASXL3c.1494dup (p.Asn499Ter)
c.1491dup (p.Asn498Ter)
c.*615dup (n.*615dup)
c.*1150dup (n.*1150dup)
c.1703dup (n.1703dup)
c.1323dup (p.Asn442Ter)
c.1371dup (p.Asn458Ter)
c.1467dup (p.Asn490Ter)
c.1413dup (p.Asn472Ter)
c.1374dup (p.Asn459Ter)
18g.33738896A=CA2294855731ASXL3c.1495A= (p.Asn499=)
c.1492A= (p.Asn498=)
c.*616A= (n.*616A=)
c.*1151A= (n.*1151A=)
c.1704A= (n.1704A=)
c.1324A= (p.Asn442=)
c.1372A= (p.Asn458=)
c.1468A= (p.Asn490=)
c.1414A= (p.Asn472=)
c.1375A= (p.Asn459=)
18g.33738896A>CCA402175599ASXL3c.1495A>C (p.Asn499His)
c.1492A>C (p.Asn498His)
c.*616A>C (n.*616A>C)
c.*1151A>C (n.*1151A>C)
c.1704A>C (n.1704A>C)
c.1324A>C (p.Asn442His)
c.1372A>C (p.Asn458His)
c.1468A>C (p.Asn490His)
c.1414A>C (p.Asn472His)
c.1375A>C (p.Asn459His)
18g.33738896A>GCA402175602ASXL3c.1495A>G (p.Asn499Asp)
c.1492A>G (p.Asn498Asp)
c.*616A>G (n.*616A>G)
c.*1151A>G (n.*1151A>G)
c.1704A>G (n.1704A>G)
c.1324A>G (p.Asn442Asp)
c.1372A>G (p.Asn458Asp)
c.1468A>G (p.Asn490Asp)
c.1414A>G (p.Asn472Asp)
c.1375A>G (p.Asn459Asp)
 dbSNP gnomAD v3 gnomAD v4
18g.33738896A>TCA402175604ASXL3c.1495A>T (p.Asn499Tyr)
c.1492A>T (p.Asn498Tyr)
c.*616A>T (n.*616A>T)
c.*1151A>T (n.*1151A>T)
c.1704A>T (n.1704A>T)
c.1324A>T (p.Asn442Tyr)
c.1372A>T (p.Asn458Tyr)
c.1468A>T (p.Asn490Tyr)
c.1414A>T (p.Asn472Tyr)
c.1375A>T (p.Asn459Tyr)
18g.33738897A=CA2294855732ASXL3c.1496A= (p.Asn499=)
c.1493A= (p.Asn498=)
c.*617A= (n.*617A=)
c.*1152A= (n.*1152A=)
c.1705A= (n.1705A=)
c.1325A= (p.Asn442=)
c.1373A= (p.Asn458=)
c.1469A= (p.Asn490=)
c.1415A= (p.Asn472=)
c.1376A= (p.Asn459=)
18g.33738897A>CCA402175607ASXL3c.1496A>C (p.Asn499Thr)
c.1493A>C (p.Asn498Thr)
c.*617A>C (n.*617A>C)
c.*1152A>C (n.*1152A>C)
c.1705A>C (n.1705A>C)
c.1325A>C (p.Asn442Thr)
c.1373A>C (p.Asn458Thr)
c.1469A>C (p.Asn490Thr)
c.1415A>C (p.Asn472Thr)
c.1376A>C (p.Asn459Thr)
18g.33738897A>GCA402175612ASXL3c.1496A>G (p.Asn499Ser)
c.1493A>G (p.Asn498Ser)
c.*617A>G (n.*617A>G)
c.*1152A>G (n.*1152A>G)
c.1705A>G (n.1705A>G)
c.1325A>G (p.Asn442Ser)
c.1373A>G (p.Asn458Ser)
c.1469A>G (p.Asn490Ser)
c.1415A>G (p.Asn472Ser)
c.1376A>G (p.Asn459Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33738897A>TCA402175610ASXL3c.1496A>T (p.Asn499Ile)
c.1493A>T (p.Asn498Ile)
c.*617A>T (n.*617A>T)
c.*1152A>T (n.*1152A>T)
c.1705A>T (n.1705A>T)
c.1325A>T (p.Asn442Ile)
c.1373A>T (p.Asn458Ile)
c.1469A>T (p.Asn490Ile)
c.1415A>T (p.Asn472Ile)
c.1376A>T (p.Asn459Ile)
18g.33738898C>ACA402175614ASXL3c.1497C>A (p.Asn499Lys)
c.1494C>A (p.Asn498Lys)
c.*618C>A (n.*618C>A)
c.*1153C>A (n.*1153C>A)
c.1706C>A (n.1706C>A)
c.1326C>A (p.Asn442Lys)
c.1374C>A (p.Asn458Lys)
c.1470C>A (p.Asn490Lys)
c.1416C>A (p.Asn472Lys)
c.1377C>A (p.Asn459Lys)
18g.33738898C=CA2294855733ASXL3c.1497C= (p.Asn499=)
c.1494C= (p.Asn498=)
c.*618C= (n.*618C=)
c.*1153C= (n.*1153C=)
c.1706C= (n.1706C=)
c.1326C= (p.Asn442=)
c.1374C= (p.Asn458=)
c.1470C= (p.Asn490=)
c.1416C= (p.Asn472=)
c.1377C= (p.Asn459=)
18g.33738898C>GCA402175616ASXL3c.1497C>G (p.Asn499Lys)
c.1494C>G (p.Asn498Lys)
c.*618C>G (n.*618C>G)
c.*1153C>G (n.*1153C>G)
c.1706C>G (n.1706C>G)
c.1326C>G (p.Asn442Lys)
c.1374C>G (p.Asn458Lys)
c.1470C>G (p.Asn490Lys)
c.1416C>G (p.Asn472Lys)
c.1377C>G (p.Asn459Lys)
18g.33738898C>TCA8933762ASXL3c.1497C>T (p.Asn499=)
c.1494C>T (p.Asn498=)
c.*618C>T (n.*618C>T)
c.*1153C>T (n.*1153C>T)
c.1706C>T (n.1706C>T)
c.1326C>T (p.Asn442=)
c.1374C>T (p.Asn458=)
c.1470C>T (p.Asn490=)
c.1416C>T (p.Asn472=)
c.1377C>T (p.Asn459=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33738899T>ACA402175620ASXL3c.1498T>A (p.Leu500Met)
c.1495T>A (p.Leu499Met)
c.*619T>A (n.*619T>A)
c.*1154T>A (n.*1154T>A)
c.1707T>A (n.1707T>A)
c.1327T>A (p.Leu443Met)
c.1375T>A (p.Leu459Met)
c.1471T>A (p.Leu491Met)
c.1417T>A (p.Leu473Met)
c.1378T>A (p.Leu460Met)
18g.33738899T>CCA503768399ASXL3c.1498T>C (p.Leu500=)
c.1495T>C (p.Leu499=)
c.*619T>C (n.*619T>C)
c.*1154T>C (n.*1154T>C)
c.1707T>C (n.1707T>C)
c.1327T>C (p.Leu443=)
c.1375T>C (p.Leu459=)
c.1471T>C (p.Leu491=)
c.1417T>C (p.Leu473=)
c.1378T>C (p.Leu460=)
 dbSNP
18g.33738899T>GCA402175622ASXL3c.1498T>G (p.Leu500Val)
c.1495T>G (p.Leu499Val)
c.*619T>G (n.*619T>G)
c.*1154T>G (n.*1154T>G)
c.1707T>G (n.1707T>G)
c.1327T>G (p.Leu443Val)
c.1375T>G (p.Leu459Val)
c.1471T>G (p.Leu491Val)
c.1417T>G (p.Leu473Val)
c.1378T>G (p.Leu460Val)
18g.33738899T=CA2294855734ASXL3c.1498T= (p.Leu500=)
c.1495T= (p.Leu499=)
c.*619T= (n.*619T=)
c.*1154T= (n.*1154T=)
c.1707T= (n.1707T=)
c.1327T= (p.Leu443=)
c.1375T= (p.Leu459=)
c.1471T= (p.Leu491=)
c.1417T= (p.Leu473=)
c.1378T= (p.Leu460=)
18g.33738900dupCA1139666019ASXL3c.1499dup (p.Leu500PhefsTer9)
c.1496dup (p.Leu499PhefsTer9)
c.*620dup (n.*620dup)
c.*1155dup (n.*1155dup)
c.1708dup (n.1708dup)
c.1328dup (p.Leu443PhefsTer9)
c.1376dup (p.Leu459PhefsTer9)
c.1472dup (p.Leu491PhefsTer9)
c.1418dup (p.Leu473PhefsTer9)
c.1379dup (p.Leu460PhefsTer9)
 ClinVar dbSNP
18g.33738900T>ACA402175625ASXL3c.1499T>A (p.Leu500Ter)
c.1496T>A (p.Leu499Ter)
c.*620T>A (n.*620T>A)
c.*1155T>A (n.*1155T>A)
c.1708T>A (n.1708T>A)
c.1328T>A (p.Leu443Ter)
c.1376T>A (p.Leu459Ter)
c.1472T>A (p.Leu491Ter)
c.1418T>A (p.Leu473Ter)
c.1379T>A (p.Leu460Ter)
18g.33738900T>CCA402175627ASXL3c.1499T>C (p.Leu500Ser)
c.1496T>C (p.Leu499Ser)
c.*620T>C (n.*620T>C)
c.*1155T>C (n.*1155T>C)
c.1708T>C (n.1708T>C)
c.1328T>C (p.Leu443Ser)
c.1376T>C (p.Leu459Ser)
c.1472T>C (p.Leu491Ser)
c.1418T>C (p.Leu473Ser)
c.1379T>C (p.Leu460Ser)
18g.33738900T>GCA402175629ASXL3c.1499T>G (p.Leu500Trp)
c.1496T>G (p.Leu499Trp)
c.*620T>G (n.*620T>G)
c.*1155T>G (n.*1155T>G)
c.1708T>G (n.1708T>G)
c.1328T>G (p.Leu443Trp)
c.1376T>G (p.Leu459Trp)
c.1472T>G (p.Leu491Trp)
c.1418T>G (p.Leu473Trp)
c.1379T>G (p.Leu460Trp)
18g.33738901G>ACA503768401ASXL3c.1500G>A (p.Leu500=)
c.1497G>A (p.Leu499=)
c.*621G>A (n.*621G>A)
c.*1156G>A (n.*1156G>A)
c.1709G>A (n.1709G>A)
c.1329G>A (p.Leu443=)
c.1377G>A (p.Leu459=)
c.1473G>A (p.Leu491=)
c.1419G>A (p.Leu473=)
c.1380G>A (p.Leu460=)
18g.33738901G>CCA402175631ASXL3c.1500G>C (p.Leu500Phe)
c.1497G>C (p.Leu499Phe)
c.*621G>C (n.*621G>C)
c.*1156G>C (n.*1156G>C)
c.1709G>C (n.1709G>C)
c.1329G>C (p.Leu443Phe)
c.1377G>C (p.Leu459Phe)
c.1473G>C (p.Leu491Phe)
c.1419G>C (p.Leu473Phe)
c.1380G>C (p.Leu460Phe)
18g.33738901G>TCA402175633ASXL3c.1500G>T (p.Leu500Phe)
c.1497G>T (p.Leu499Phe)
c.*621G>T (n.*621G>T)
c.*1156G>T (n.*1156G>T)
c.1709G>T (n.1709G>T)
c.1329G>T (p.Leu443Phe)
c.1377G>T (p.Leu459Phe)
c.1473G>T (p.Leu491Phe)
c.1419G>T (p.Leu473Phe)
c.1380G>T (p.Leu460Phe)
18g.33738902G>ACA402175644ASXL3c.1501G>A (p.Glu501Lys)
c.1498G>A (p.Glu500Lys)
c.*622G>A (n.*622G>A)
c.*1157G>A (n.*1157G>A)
c.1710G>A (n.1710G>A)
c.1330G>A (p.Glu444Lys)
c.1378G>A (p.Glu460Lys)
c.1474G>A (p.Glu492Lys)
c.1420G>A (p.Glu474Lys)
c.1381G>A (p.Glu461Lys)
18g.33738902G>CCA402175642ASXL3c.1501G>C (p.Glu501Gln)
c.1498G>C (p.Glu500Gln)
c.*622G>C (n.*622G>C)
c.*1157G>C (n.*1157G>C)
c.1710G>C (n.1710G>C)
c.1330G>C (p.Glu444Gln)
c.1378G>C (p.Glu460Gln)
c.1474G>C (p.Glu492Gln)
c.1420G>C (p.Glu474Gln)
c.1381G>C (p.Glu461Gln)
18g.33738902G>TCA402175640ASXL3c.1501G>T (p.Glu501Ter)
c.1498G>T (p.Glu500Ter)
c.*622G>T (n.*622G>T)
c.*1157G>T (n.*1157G>T)
c.1710G>T (n.1710G>T)
c.1330G>T (p.Glu444Ter)
c.1378G>T (p.Glu460Ter)
c.1474G>T (p.Glu492Ter)
c.1420G>T (p.Glu474Ter)
c.1381G>T (p.Glu461Ter)
 ClinVar
18g.33738902_33738903delinsGACA2294855735ASXL3c.1501_1502delinsGA (p.Glu501=)
c.1498_1499delinsGA (p.Glu500=)
c.*622_*623delinsGA (n.*622_*623delinsGA)
c.*1157_*1158delinsGA (n.*1157_*1158delinsGA)
c.1710_1711delinsGA (n.1710_1711delinsGA)
c.1330_1331delinsGA (p.Glu444=)
c.1378_1379delinsGA (p.Glu460=)
c.1474_1475delinsGA (p.Glu492=)
c.1420_1421delinsGA (p.Glu474=)
c.1381_1382delinsGA (p.Glu461=)
18g.33738903A>CCA402175646ASXL3c.1502A>C (p.Glu501Ala)
c.1499A>C (p.Glu500Ala)
c.*623A>C (n.*623A>C)
c.*1158A>C (n.*1158A>C)
c.1711A>C (n.1711A>C)
c.1331A>C (p.Glu444Ala)
c.1379A>C (p.Glu460Ala)
c.1475A>C (p.Glu492Ala)
c.1421A>C (p.Glu474Ala)
c.1382A>C (p.Glu461Ala)
18g.33738903A>GCA402175647ASXL3c.1502A>G (p.Glu501Gly)
c.1499A>G (p.Glu500Gly)
c.*623A>G (n.*623A>G)
c.*1158A>G (n.*1158A>G)
c.1711A>G (n.1711A>G)
c.1331A>G (p.Glu444Gly)
c.1379A>G (p.Glu460Gly)
c.1475A>G (p.Glu492Gly)
c.1421A>G (p.Glu474Gly)
c.1382A>G (p.Glu461Gly)
18g.33738903A>TCA402175650ASXL3c.1502A>T (p.Glu501Val)
c.1499A>T (p.Glu500Val)
c.*623A>T (n.*623A>T)
c.*1158A>T (n.*1158A>T)
c.1711A>T (n.1711A>T)
c.1331A>T (p.Glu444Val)
c.1379A>T (p.Glu460Val)
c.1475A>T (p.Glu492Val)
c.1421A>T (p.Glu474Val)
c.1382A>T (p.Glu461Val)
18g.33738904delCA658824627ASXL3c.1503del (p.Glu501AspfsTer5)
c.1500del (p.Glu500AspfsTer5)
c.*624del (n.*624del)
c.*1159del (n.*1159del)
c.1712del (n.1712del)
c.1332del (p.Glu444AspfsTer5)
c.1380del (p.Glu460AspfsTer5)
c.1476del (p.Glu492AspfsTer5)
c.1422del (p.Glu474AspfsTer5)
c.1383del (p.Glu461AspfsTer5)
 ClinVar dbSNP
18g.33738904A=CA2294855736ASXL3c.1503A= (p.Glu501=)
c.1500A= (p.Glu500=)
c.*624A= (n.*624A=)
c.*1159A= (n.*1159A=)
c.1712A= (n.1712A=)
c.1332A= (p.Glu444=)
c.1380A= (p.Glu460=)
c.1476A= (p.Glu492=)
c.1422A= (p.Glu474=)
c.1383A= (p.Glu461=)
18g.33738904A>CCA402175653ASXL3c.1503A>C (p.Glu501Asp)
c.1500A>C (p.Glu500Asp)
c.*624A>C (n.*624A>C)
c.*1159A>C (n.*1159A>C)
c.1712A>C (n.1712A>C)
c.1332A>C (p.Glu444Asp)
c.1380A>C (p.Glu460Asp)
c.1476A>C (p.Glu492Asp)
c.1422A>C (p.Glu474Asp)
c.1383A>C (p.Glu461Asp)
18g.33738904A>GCA503768406ASXL3c.1503A>G (p.Glu501=)
c.1500A>G (p.Glu500=)
c.*624A>G (n.*624A>G)
c.*1159A>G (n.*1159A>G)
c.1712A>G (n.1712A>G)
c.1332A>G (p.Glu444=)
c.1380A>G (p.Glu460=)
c.1476A>G (p.Glu492=)
c.1422A>G (p.Glu474=)
c.1383A>G (p.Glu461=)
 dbSNP gnomAD v4
18g.33738904A>TCA402175659ASXL3c.1503A>T (p.Glu501Asp)
c.1500A>T (p.Glu500Asp)
c.*624A>T (n.*624A>T)
c.*1159A>T (n.*1159A>T)
c.1712A>T (n.1712A>T)
c.1332A>T (p.Glu444Asp)
c.1380A>T (p.Glu460Asp)
c.1476A>T (p.Glu492Asp)
c.1422A>T (p.Glu474Asp)
c.1383A>T (p.Glu461Asp)
18g.33738905T>ACA402175666ASXL3c.1504T>A (p.Ser502Thr)
c.1501T>A (p.Ser501Thr)
c.*625T>A (n.*625T>A)
c.*1160T>A (n.*1160T>A)
c.1713T>A (n.1713T>A)
c.1333T>A (p.Ser445Thr)
c.1381T>A (p.Ser461Thr)
c.1477T>A (p.Ser493Thr)
c.1423T>A (p.Ser475Thr)
c.1384T>A (p.Ser462Thr)
18g.33738905T>CCA402175664ASXL3c.1504T>C (p.Ser502Pro)
c.1501T>C (p.Ser501Pro)
c.*625T>C (n.*625T>C)
c.*1160T>C (n.*1160T>C)
c.1713T>C (n.1713T>C)
c.1333T>C (p.Ser445Pro)
c.1381T>C (p.Ser461Pro)
c.1477T>C (p.Ser493Pro)
c.1423T>C (p.Ser475Pro)
c.1384T>C (p.Ser462Pro)
18g.33738905T>GCA402175662ASXL3c.1504T>G (p.Ser502Ala)
c.1501T>G (p.Ser501Ala)
c.*625T>G (n.*625T>G)
c.*1160T>G (n.*1160T>G)
c.1713T>G (n.1713T>G)
c.1333T>G (p.Ser445Ala)
c.1381T>G (p.Ser461Ala)
c.1477T>G (p.Ser493Ala)
c.1423T>G (p.Ser475Ala)
c.1384T>G (p.Ser462Ala)
18g.33738906C>ACA402175669ASXL3c.1505C>A (p.Ser502Tyr)
c.1502C>A (p.Ser501Tyr)
c.*626C>A (n.*626C>A)
c.*1161C>A (n.*1161C>A)
c.1714C>A (n.1714C>A)
c.1334C>A (p.Ser445Tyr)
c.1382C>A (p.Ser461Tyr)
c.1478C>A (p.Ser493Tyr)
c.1424C>A (p.Ser475Tyr)
c.1385C>A (p.Ser462Tyr)
18g.33738906C>GCA402175671ASXL3c.1505C>G (p.Ser502Cys)
c.1502C>G (p.Ser501Cys)
c.*626C>G (n.*626C>G)
c.*1161C>G (n.*1161C>G)
c.1714C>G (n.1714C>G)
c.1334C>G (p.Ser445Cys)
c.1382C>G (p.Ser461Cys)
c.1478C>G (p.Ser493Cys)
c.1424C>G (p.Ser475Cys)
c.1385C>G (p.Ser462Cys)
18g.33738906C>TCA402175673ASXL3c.1505C>T (p.Ser502Phe)
c.1502C>T (p.Ser501Phe)
c.*626C>T (n.*626C>T)
c.*1161C>T (n.*1161C>T)
c.1714C>T (n.1714C>T)
c.1334C>T (p.Ser445Phe)
c.1382C>T (p.Ser461Phe)
c.1478C>T (p.Ser493Phe)
c.1424C>T (p.Ser475Phe)
c.1385C>T (p.Ser462Phe)
18g.33738907C>ACA503768410ASXL3c.1506C>A (p.Ser502=)
c.1503C>A (p.Ser501=)
c.*627C>A (n.*627C>A)
c.*1162C>A (n.*1162C>A)
c.1715C>A (n.1715C>A)
c.1335C>A (p.Ser445=)
c.1383C>A (p.Ser461=)
c.1479C>A (p.Ser493=)
c.1425C>A (p.Ser475=)
c.1386C>A (p.Ser462=)
 COSMIC COSMIC
18g.33738907C>GCA503768411ASXL3c.1506C>G (p.Ser502=)
c.1503C>G (p.Ser501=)
c.*627C>G (n.*627C>G)
c.*1162C>G (n.*1162C>G)
c.1715C>G (n.1715C>G)
c.1335C>G (p.Ser445=)
c.1383C>G (p.Ser461=)
c.1479C>G (p.Ser493=)
c.1425C>G (p.Ser475=)
c.1386C>G (p.Ser462=)
18g.33738907C>TCA503768412ASXL3c.1506C>T (p.Ser502=)
c.1503C>T (p.Ser501=)
c.*627C>T (n.*627C>T)
c.*1162C>T (n.*1162C>T)
c.1715C>T (n.1715C>T)
c.1335C>T (p.Ser445=)
c.1383C>T (p.Ser461=)
c.1479C>T (p.Ser493=)
c.1425C>T (p.Ser475=)
c.1386C>T (p.Ser462=)
18g.33738908T>ACA402175677ASXL3c.1507T>A (p.Cys503Ser)
c.1504T>A (p.Cys502Ser)
c.*628T>A (n.*628T>A)
c.*1163T>A (n.*1163T>A)
c.1716T>A (n.1716T>A)
c.1336T>A (p.Cys446Ser)
c.1384T>A (p.Cys462Ser)
c.1480T>A (p.Cys494Ser)
c.1426T>A (p.Cys476Ser)
c.1387T>A (p.Cys463Ser)
18g.33738908T>CCA8933763ASXL3c.1507T>C (p.Cys503Arg)
c.1504T>C (p.Cys502Arg)
c.*628T>C (n.*628T>C)
c.*1163T>C (n.*1163T>C)
c.1716T>C (n.1716T>C)
c.1336T>C (p.Cys446Arg)
c.1384T>C (p.Cys462Arg)
c.1480T>C (p.Cys494Arg)
c.1426T>C (p.Cys476Arg)
c.1387T>C (p.Cys463Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33738908T>GCA402175681ASXL3c.1507T>G (p.Cys503Gly)
c.1504T>G (p.Cys502Gly)
c.*628T>G (n.*628T>G)
c.*1163T>G (n.*1163T>G)
c.1716T>G (n.1716T>G)
c.1336T>G (p.Cys446Gly)
c.1384T>G (p.Cys462Gly)
c.1480T>G (p.Cys494Gly)
c.1426T>G (p.Cys476Gly)
c.1387T>G (p.Cys463Gly)
18g.33738908T=CA2294855737ASXL3c.1507T= (p.Cys503=)
c.1504T= (p.Cys502=)
c.*628T= (n.*628T=)
c.*1163T= (n.*1163T=)
c.1716T= (n.1716T=)
c.1336T= (p.Cys446=)
c.1384T= (p.Cys462=)
c.1480T= (p.Cys494=)
c.1426T= (p.Cys476=)
c.1387T= (p.Cys463=)
18g.33738909_33738912dupCA2695227381ASXL3c.1508_1511dup (p.Met505CysfsTer5)
c.1505_1508dup (p.Met504CysfsTer5)
c.*629_*632dup (n.*629_*632dup)
c.*1164_*1167dup (n.*1164_*1167dup)
c.1717_1720dup (n.1717_1720dup)
c.1337_1340dup (p.Met448CysfsTer5)
c.1385_1388dup (p.Met464CysfsTer5)
c.1481_1484dup (p.Met496CysfsTer5)
c.1427_1430dup (p.Met478CysfsTer5)
c.1388_1391dup (p.Met465CysfsTer5)
18g.33738909G>ACA402175684ASXL3c.1508G>A (p.Cys503Tyr)
c.1505G>A (p.Cys502Tyr)
c.*629G>A (n.*629G>A)
c.*1164G>A (n.*1164G>A)
c.1717G>A (n.1717G>A)
c.1337G>A (p.Cys446Tyr)
c.1385G>A (p.Cys462Tyr)
c.1481G>A (p.Cys494Tyr)
c.1427G>A (p.Cys476Tyr)
c.1388G>A (p.Cys463Tyr)
 dbSNP gnomAD v3 gnomAD v4
18g.33738909G>CCA402175689ASXL3c.1508G>C (p.Cys503Ser)
c.1505G>C (p.Cys502Ser)
c.*629G>C (n.*629G>C)
c.*1164G>C (n.*1164G>C)
c.1717G>C (n.1717G>C)
c.1337G>C (p.Cys446Ser)
c.1385G>C (p.Cys462Ser)
c.1481G>C (p.Cys494Ser)
c.1427G>C (p.Cys476Ser)
c.1388G>C (p.Cys463Ser)
18g.33738909G=CA2294855738ASXL3c.1508G= (p.Cys503=)
c.1505G= (p.Cys502=)
c.*629G= (n.*629G=)
c.*1164G= (n.*1164G=)
c.1717G= (n.1717G=)
c.1337G= (p.Cys446=)
c.1385G= (p.Cys462=)
c.1481G= (p.Cys494=)
c.1427G= (p.Cys476=)
c.1388G= (p.Cys463=)
18g.33738909G>TCA402175686ASXL3c.1508G>T (p.Cys503Phe)
c.1505G>T (p.Cys502Phe)
c.*629G>T (n.*629G>T)
c.*1164G>T (n.*1164G>T)
c.1717G>T (n.1717G>T)
c.1337G>T (p.Cys446Phe)
c.1385G>T (p.Cys462Phe)
c.1481G>T (p.Cys494Phe)
c.1427G>T (p.Cys476Phe)
c.1388G>T (p.Cys463Phe)
 gnomAD v4
18g.33738910T>ACA402175692ASXL3c.1509T>A (p.Cys503Ter)
c.1506T>A (p.Cys502Ter)
c.*630T>A (n.*630T>A)
c.*1165T>A (n.*1165T>A)
c.1718T>A (n.1718T>A)
c.1338T>A (p.Cys446Ter)
c.1386T>A (p.Cys462Ter)
c.1482T>A (p.Cys494Ter)
c.1428T>A (p.Cys476Ter)
c.1389T>A (p.Cys463Ter)
18g.33738910T>CCA503768415ASXL3c.1509T>C (p.Cys503=)
c.1506T>C (p.Cys502=)
c.*630T>C (n.*630T>C)
c.*1165T>C (n.*1165T>C)
c.1718T>C (n.1718T>C)
c.1338T>C (p.Cys446=)
c.1386T>C (p.Cys462=)
c.1482T>C (p.Cys494=)
c.1428T>C (p.Cys476=)
c.1389T>C (p.Cys463=)
18g.33738910T>GCA402175694ASXL3c.1509T>G (p.Cys503Trp)
c.1506T>G (p.Cys502Trp)
c.*630T>G (n.*630T>G)
c.*1165T>G (n.*1165T>G)
c.1718T>G (n.1718T>G)
c.1338T>G (p.Cys446Trp)
c.1386T>G (p.Cys462Trp)
c.1482T>G (p.Cys494Trp)
c.1428T>G (p.Cys476Trp)
c.1389T>G (p.Cys463Trp)
18g.33738911G>ACA402175697ASXL3c.1510G>A (p.Val504Ile)
c.1507G>A (p.Val503Ile)
c.*631G>A (n.*631G>A)
c.*1166G>A (n.*1166G>A)
c.1719G>A (n.1719G>A)
c.1339G>A (p.Val447Ile)
c.1387G>A (p.Val463Ile)
c.1483G>A (p.Val495Ile)
c.1429G>A (p.Val477Ile)
c.1390G>A (p.Val464Ile)
18g.33738911G>CCA402175699ASXL3c.1510G>C (p.Val504Leu)
c.1507G>C (p.Val503Leu)
c.*631G>C (n.*631G>C)
c.*1166G>C (n.*1166G>C)
c.1719G>C (n.1719G>C)
c.1339G>C (p.Val447Leu)
c.1387G>C (p.Val463Leu)
c.1483G>C (p.Val495Leu)
c.1429G>C (p.Val477Leu)
c.1390G>C (p.Val464Leu)
 dbSNP gnomAD v2 gnomAD v4
18g.33738911G=CA2294855739ASXL3c.1510G= (p.Val504=)
c.1507G= (p.Val503=)
c.*631G= (n.*631G=)
c.*1166G= (n.*1166G=)
c.1719G= (n.1719G=)
c.1339G= (p.Val447=)
c.1387G= (p.Val463=)
c.1483G= (p.Val495=)
c.1429G= (p.Val477=)
c.1390G= (p.Val464=)
18g.33738911G>TCA402175703ASXL3c.1510G>T (p.Val504Phe)
c.1507G>T (p.Val503Phe)
c.*631G>T (n.*631G>T)
c.*1166G>T (n.*1166G>T)
c.1719G>T (n.1719G>T)
c.1339G>T (p.Val447Phe)
c.1387G>T (p.Val463Phe)
c.1483G>T (p.Val495Phe)
c.1429G>T (p.Val477Phe)
c.1390G>T (p.Val464Phe)
18g.33738912T>ACA402175705ASXL3c.1511T>A (p.Val504Asp)
c.1508T>A (p.Val503Asp)
c.*632T>A (n.*632T>A)
c.*1167T>A (n.*1167T>A)
c.1720T>A (n.1720T>A)
c.1340T>A (p.Val447Asp)
c.1388T>A (p.Val463Asp)
c.1484T>A (p.Val495Asp)
c.1430T>A (p.Val477Asp)
c.1391T>A (p.Val464Asp)
18g.33738912T>CCA402175706ASXL3c.1511T>C (p.Val504Ala)
c.1508T>C (p.Val503Ala)
c.*632T>C (n.*632T>C)
c.*1167T>C (n.*1167T>C)
c.1720T>C (n.1720T>C)
c.1340T>C (p.Val447Ala)
c.1388T>C (p.Val463Ala)
c.1484T>C (p.Val495Ala)
c.1430T>C (p.Val477Ala)
c.1391T>C (p.Val464Ala)
18g.33738912T>GCA8933764ASXL3c.1511T>G (p.Val504Gly)
c.1508T>G (p.Val503Gly)
c.*632T>G (n.*632T>G)
c.*1167T>G (n.*1167T>G)
c.1720T>G (n.1720T>G)
c.1340T>G (p.Val447Gly)
c.1388T>G (p.Val463Gly)
c.1484T>G (p.Val495Gly)
c.1430T>G (p.Val477Gly)
c.1391T>G (p.Val464Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33738912T=CA2294855740ASXL3c.1511T= (p.Val504=)
c.1508T= (p.Val503=)
c.*632T= (n.*632T=)
c.*1167T= (n.*1167T=)
c.1720T= (n.1720T=)
c.1340T= (p.Val447=)
c.1388T= (p.Val463=)
c.1484T= (p.Val495=)
c.1430T= (p.Val477=)
c.1391T= (p.Val464=)
18g.33738913T>ACA503768419ASXL3c.1512T>A (p.Val504=)
c.1509T>A (p.Val503=)
c.*633T>A (n.*633T>A)
c.*1168T>A (n.*1168T>A)
c.1721T>A (n.1721T>A)
c.1341T>A (p.Val447=)
c.1389T>A (p.Val463=)
c.1485T>A (p.Val495=)
c.1431T>A (p.Val477=)
c.1392T>A (p.Val464=)
18g.33738913T>CCA503768420ASXL3c.1512T>C (p.Val504=)
c.1509T>C (p.Val503=)
c.*633T>C (n.*633T>C)
c.*1168T>C (n.*1168T>C)
c.1721T>C (n.1721T>C)
c.1341T>C (p.Val447=)
c.1389T>C (p.Val463=)
c.1485T>C (p.Val495=)
c.1431T>C (p.Val477=)
c.1392T>C (p.Val464=)
18g.33738913T>GCA503768421ASXL3c.1512T>G (p.Val504=)
c.1509T>G (p.Val503=)
c.*633T>G (n.*633T>G)
c.*1168T>G (n.*1168T>G)
c.1721T>G (n.1721T>G)
c.1341T>G (p.Val447=)
c.1389T>G (p.Val463=)
c.1485T>G (p.Val495=)
c.1431T>G (p.Val477=)
c.1392T>G (p.Val464=)
18g.33738914A=CA2294855741ASXL3c.1513A= (p.Met505=)
c.1510A= (p.Met504=)
c.*634A= (n.*634A=)
c.*1169A= (n.*1169A=)
c.1722A= (n.1722A=)
c.1342A= (p.Met448=)
c.1390A= (p.Met464=)
c.1486A= (p.Met496=)
c.1432A= (p.Met478=)
c.1393A= (p.Met465=)
18g.33738914A>CCA402175712ASXL3c.1513A>C (p.Met505Leu)
c.1510A>C (p.Met504Leu)
c.*634A>C (n.*634A>C)
c.*1169A>C (n.*1169A>C)
c.1722A>C (n.1722A>C)
c.1342A>C (p.Met448Leu)
c.1390A>C (p.Met464Leu)
c.1486A>C (p.Met496Leu)
c.1432A>C (p.Met478Leu)
c.1393A>C (p.Met465Leu)
18g.33738914A>GCA8933765ASXL3c.1513A>G (p.Met505Val)
c.1510A>G (p.Met504Val)
c.*634A>G (n.*634A>G)
c.*1169A>G (n.*1169A>G)
c.1722A>G (n.1722A>G)
c.1342A>G (p.Met448Val)
c.1390A>G (p.Met464Val)
c.1486A>G (p.Met496Val)
c.1432A>G (p.Met478Val)
c.1393A>G (p.Met465Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33738914A>TCA402175716ASXL3c.1513A>T (p.Met505Leu)
c.1510A>T (p.Met504Leu)
c.*634A>T (n.*634A>T)
c.*1169A>T (n.*1169A>T)
c.1722A>T (n.1722A>T)
c.1342A>T (p.Met448Leu)
c.1390A>T (p.Met464Leu)
c.1486A>T (p.Met496Leu)
c.1432A>T (p.Met478Leu)
c.1393A>T (p.Met465Leu)
18g.33738920_33738926delCA2739291098ASXL3c.1519_1525del (p.Asn507PhefsTer2)
c.1516_1522del (p.Asn506PhefsTer2)
c.*640_*646del (n.*640_*646del)
c.*1175_*1181del (n.*1175_*1181del)
c.1728_1734del (n.1728_1734del)
c.1348_1354del (p.Asn450PhefsTer2)
c.1396_1402del (p.Asn466PhefsTer2)
c.1492_1498del (p.Asn498PhefsTer2)
c.1438_1444del (p.Asn480PhefsTer2)
c.1399_1405del (p.Asn467PhefsTer2)
18g.33738915T>ACA402175722ASXL3c.1514T>A (p.Met505Lys)
c.1511T>A (p.Met504Lys)
c.*635T>A (n.*635T>A)
c.*1170T>A (n.*1170T>A)
c.1723T>A (n.1723T>A)
c.1343T>A (p.Met448Lys)
c.1391T>A (p.Met464Lys)
c.1487T>A (p.Met496Lys)
c.1433T>A (p.Met478Lys)
c.1394T>A (p.Met465Lys)
18g.33738915T>CCA8933766ASXL3c.1514T>C (p.Met505Thr)
c.1511T>C (p.Met504Thr)
c.*635T>C (n.*635T>C)
c.*1170T>C (n.*1170T>C)
c.1723T>C (n.1723T>C)
c.1343T>C (p.Met448Thr)
c.1391T>C (p.Met464Thr)
c.1487T>C (p.Met496Thr)
c.1433T>C (p.Met478Thr)
c.1394T>C (p.Met465Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.33738915T>GCA402175719ASXL3c.1514T>G (p.Met505Arg)
c.1511T>G (p.Met504Arg)
c.*635T>G (n.*635T>G)
c.*1170T>G (n.*1170T>G)
c.1723T>G (n.1723T>G)
c.1343T>G (p.Met448Arg)
c.1391T>G (p.Met464Arg)
c.1487T>G (p.Met496Arg)
c.1433T>G (p.Met478Arg)
c.1394T>G (p.Met465Arg)
 gnomAD v4
18g.33738915T=CA2294855742ASXL3c.1514T= (p.Met505=)
c.1511T= (p.Met504=)
c.*635T= (n.*635T=)
c.*1170T= (n.*1170T=)
c.1723T= (n.1723T=)
c.1343T= (p.Met448=)
c.1391T= (p.Met464=)
c.1487T= (p.Met496=)
c.1433T= (p.Met478=)
c.1394T= (p.Met465=)
18g.33738916G>ACA402175727ASXL3c.1515G>A (p.Met505Ile)
c.1512G>A (p.Met504Ile)
c.*636G>A (n.*636G>A)
c.*1171G>A (n.*1171G>A)
c.1724G>A (n.1724G>A)
c.1344G>A (p.Met448Ile)
c.1392G>A (p.Met464Ile)
c.1488G>A (p.Met496Ile)
c.1434G>A (p.Met478Ile)
c.1395G>A (p.Met465Ile)
 COSMIC COSMIC
18g.33738916G>CCA402175725ASXL3c.1515G>C (p.Met505Ile)
c.1512G>C (p.Met504Ile)
c.*636G>C (n.*636G>C)
c.*1171G>C (n.*1171G>C)
c.1724G>C (n.1724G>C)
c.1344G>C (p.Met448Ile)
c.1392G>C (p.Met464Ile)
c.1488G>C (p.Met496Ile)
c.1434G>C (p.Met478Ile)
c.1395G>C (p.Met465Ile)
18g.33738916G>TCA402175729ASXL3c.1515G>T (p.Met505Ile)
c.1512G>T (p.Met504Ile)
c.*636G>T (n.*636G>T)
c.*1171G>T (n.*1171G>T)
c.1724G>T (n.1724G>T)
c.1344G>T (p.Met448Ile)
c.1392G>T (p.Met464Ile)
c.1488G>T (p.Met496Ile)
c.1434G>T (p.Met478Ile)
c.1395G>T (p.Met465Ile)
18g.33738917A>CCA402175733ASXL3c.1516A>C (p.Met506Leu)
c.1513A>C (p.Met505Leu)
c.*637A>C (n.*637A>C)
c.*1172A>C (n.*1172A>C)
c.1725A>C (n.1725A>C)
c.1345A>C (p.Met449Leu)
c.1393A>C (p.Met465Leu)
c.1489A>C (p.Met497Leu)
c.1435A>C (p.Met479Leu)
c.1396A>C (p.Met466Leu)
18g.33738917A>GCA402175737ASXL3c.1516A>G (p.Met506Val)
c.1513A>G (p.Met505Val)
c.*637A>G (n.*637A>G)
c.*1172A>G (n.*1172A>G)
c.1725A>G (n.1725A>G)
c.1345A>G (p.Met449Val)
c.1393A>G (p.Met465Val)
c.1489A>G (p.Met497Val)
c.1435A>G (p.Met479Val)
c.1396A>G (p.Met466Val)
18g.33738917A>TCA402175735ASXL3c.1516A>T (p.Met506Leu)
c.1513A>T (p.Met505Leu)
c.*637A>T (n.*637A>T)
c.*1172A>T (n.*1172A>T)
c.1725A>T (n.1725A>T)
c.1345A>T (p.Met449Leu)
c.1393A>T (p.Met465Leu)
c.1489A>T (p.Met497Leu)
c.1435A>T (p.Met479Leu)
c.1396A>T (p.Met466Leu)
 gnomAD v4
18g.33738918T>ACA402175740ASXL3c.1517T>A (p.Met506Lys)
c.1514T>A (p.Met505Lys)
c.*638T>A (n.*638T>A)
c.*1173T>A (n.*1173T>A)
c.1726T>A (n.1726T>A)
c.1346T>A (p.Met449Lys)
c.1394T>A (p.Met465Lys)
c.1490T>A (p.Met497Lys)
c.1436T>A (p.Met479Lys)
c.1397T>A (p.Met466Lys)
18g.33738918T>CCA402175742ASXL3c.1517T>C (p.Met506Thr)
c.1514T>C (p.Met505Thr)
c.*638T>C (n.*638T>C)
c.*1173T>C (n.*1173T>C)
c.1726T>C (n.1726T>C)
c.1346T>C (p.Met449Thr)
c.1394T>C (p.Met465Thr)
c.1490T>C (p.Met497Thr)
c.1436T>C (p.Met479Thr)
c.1397T>C (p.Met466Thr)
 dbSNP gnomAD v3 gnomAD v4
18g.33738918T>GCA402175741ASXL3c.1517T>G (p.Met506Arg)
c.1514T>G (p.Met505Arg)
c.*638T>G (n.*638T>G)
c.*1173T>G (n.*1173T>G)
c.1726T>G (n.1726T>G)
c.1346T>G (p.Met449Arg)
c.1394T>G (p.Met465Arg)
c.1490T>G (p.Met497Arg)
c.1436T>G (p.Met479Arg)
c.1397T>G (p.Met466Arg)
18g.33738918T=CA2294855743ASXL3c.1517T= (p.Met506=)
c.1514T= (p.Met505=)
c.*638T= (n.*638T=)
c.*1173T= (n.*1173T=)
c.1726T= (n.1726T=)
c.1346T= (p.Met449=)
c.1394T= (p.Met465=)
c.1490T= (p.Met497=)
c.1436T= (p.Met479=)
c.1397T= (p.Met466=)
18g.33738919G>ACA297786737ASXL3c.1518G>A (p.Met506Ile)
c.1515G>A (p.Met505Ile)
c.*639G>A (n.*639G>A)
c.*1174G>A (n.*1174G>A)
c.1727G>A (n.1727G>A)
c.1347G>A (p.Met449Ile)
c.1395G>A (p.Met465Ile)
c.1491G>A (p.Met497Ile)
c.1437G>A (p.Met479Ile)
c.1398G>A (p.Met466Ile)
 dbSNP
18g.33738919G>CCA402175743ASXL3c.1518G>C (p.Met506Ile)
c.1515G>C (p.Met505Ile)
c.*639G>C (n.*639G>C)
c.*1174G>C (n.*1174G>C)
c.1727G>C (n.1727G>C)
c.1347G>C (p.Met449Ile)
c.1395G>C (p.Met465Ile)
c.1491G>C (p.Met497Ile)
c.1437G>C (p.Met479Ile)
c.1398G>C (p.Met466Ile)
18g.33738919G=CA2294855744ASXL3c.1518G= (p.Met506=)
c.1515G= (p.Met505=)
c.*639G= (n.*639G=)
c.*1174G= (n.*1174G=)
c.1727G= (n.1727G=)
c.1347G= (p.Met449=)
c.1395G= (p.Met465=)
c.1491G= (p.Met497=)
c.1437G= (p.Met479=)
c.1398G= (p.Met466=)
18g.33738919G>TCA8933767ASXL3c.1518G>T (p.Met506Ile)
c.1515G>T (p.Met505Ile)
c.*639G>T (n.*639G>T)
c.*1174G>T (n.*1174G>T)
c.1727G>T (n.1727G>T)
c.1347G>T (p.Met449Ile)
c.1395G>T (p.Met465Ile)
c.1491G>T (p.Met497Ile)
c.1437G>T (p.Met479Ile)
c.1398G>T (p.Met466Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33738920A>CCA402175744ASXL3c.1519A>C (p.Asn507His)
c.1516A>C (p.Asn506His)
c.*640A>C (n.*640A>C)
c.*1175A>C (n.*1175A>C)
c.1728A>C (n.1728A>C)
c.1348A>C (p.Asn450His)
c.1396A>C (p.Asn466His)
c.1492A>C (p.Asn498His)
c.1438A>C (p.Asn480His)
c.1399A>C (p.Asn467His)
18g.33738920A>GCA402175745ASXL3c.1519A>G (p.Asn507Asp)
c.1516A>G (p.Asn506Asp)
c.*640A>G (n.*640A>G)
c.*1175A>G (n.*1175A>G)
c.1728A>G (n.1728A>G)
c.1348A>G (p.Asn450Asp)
c.1396A>G (p.Asn466Asp)
c.1492A>G (p.Asn498Asp)
c.1438A>G (p.Asn480Asp)
c.1399A>G (p.Asn467Asp)
18g.33738920A>TCA402175746ASXL3c.1519A>T (p.Asn507Tyr)
c.1516A>T (p.Asn506Tyr)
c.*640A>T (n.*640A>T)
c.*1175A>T (n.*1175A>T)
c.1728A>T (n.1728A>T)
c.1348A>T (p.Asn450Tyr)
c.1396A>T (p.Asn466Tyr)
c.1492A>T (p.Asn498Tyr)
c.1438A>T (p.Asn480Tyr)
c.1399A>T (p.Asn467Tyr)
18g.33738921A>CCA402175747ASXL3c.1520A>C (p.Asn507Thr)
c.1517A>C (p.Asn506Thr)
c.*641A>C (n.*641A>C)
c.*1176A>C (n.*1176A>C)
c.1729A>C (n.1729A>C)
c.1349A>C (p.Asn450Thr)
c.1397A>C (p.Asn466Thr)
c.1493A>C (p.Asn498Thr)
c.1439A>C (p.Asn480Thr)
c.1400A>C (p.Asn467Thr)
18g.33738921A>GCA402175748ASXL3c.1520A>G (p.Asn507Ser)
c.1517A>G (p.Asn506Ser)
c.*641A>G (n.*641A>G)
c.*1176A>G (n.*1176A>G)
c.1729A>G (n.1729A>G)
c.1349A>G (p.Asn450Ser)
c.1397A>G (p.Asn466Ser)
c.1493A>G (p.Asn498Ser)
c.1439A>G (p.Asn480Ser)
c.1400A>G (p.Asn467Ser)
18g.33738921A>TCA402175749ASXL3c.1520A>T (p.Asn507Ile)
c.1517A>T (p.Asn506Ile)
c.*641A>T (n.*641A>T)
c.*1176A>T (n.*1176A>T)
c.1729A>T (n.1729A>T)
c.1349A>T (p.Asn450Ile)
c.1397A>T (p.Asn466Ile)
c.1493A>T (p.Asn498Ile)
c.1439A>T (p.Asn480Ile)
c.1400A>T (p.Asn467Ile)
18g.33738922T>ACA402175750ASXL3c.1521T>A (p.Asn507Lys)
c.1518T>A (p.Asn506Lys)
c.*642T>A (n.*642T>A)
c.*1177T>A (n.*1177T>A)
c.1730T>A (n.1730T>A)
c.1350T>A (p.Asn450Lys)
c.1398T>A (p.Asn466Lys)
c.1494T>A (p.Asn498Lys)
c.1440T>A (p.Asn480Lys)
c.1401T>A (p.Asn467Lys)
18g.33738922T>CCA503768426ASXL3c.1521T>C (p.Asn507=)
c.1518T>C (p.Asn506=)
c.*642T>C (n.*642T>C)
c.*1177T>C (n.*1177T>C)
c.1730T>C (n.1730T>C)
c.1350T>C (p.Asn450=)
c.1398T>C (p.Asn466=)
c.1494T>C (p.Asn498=)
c.1440T>C (p.Asn480=)
c.1401T>C (p.Asn467=)
18g.33738922T>GCA402175751ASXL3c.1521T>G (p.Asn507Lys)
c.1518T>G (p.Asn506Lys)
c.*642T>G (n.*642T>G)
c.*1177T>G (n.*1177T>G)
c.1730T>G (n.1730T>G)
c.1350T>G (p.Asn450Lys)
c.1398T>G (p.Asn466Lys)
c.1494T>G (p.Asn498Lys)
c.1440T>G (p.Asn480Lys)
c.1401T>G (p.Asn467Lys)
18g.33738923G>ACA297786745ASXL3c.1522G>A (p.Asp508Asn)
c.1519G>A (p.Asp507Asn)
c.*643G>A (n.*643G>A)
c.*1178G>A (n.*1178G>A)
c.1731G>A (n.1731G>A)
c.1351G>A (p.Asp451Asn)
c.1399G>A (p.Asp467Asn)
c.1495G>A (p.Asp499Asn)
c.1441G>A (p.Asp481Asn)
c.1402G>A (p.Asp468Asn)
 dbSNP gnomAD v4
18g.33738923G>CCA402175752ASXL3c.1522G>C (p.Asp508His)
c.1519G>C (p.Asp507His)
c.*643G>C (n.*643G>C)
c.*1178G>C (n.*1178G>C)
c.1731G>C (n.1731G>C)
c.1351G>C (p.Asp451His)
c.1399G>C (p.Asp467His)
c.1495G>C (p.Asp499His)
c.1441G>C (p.Asp481His)
c.1402G>C (p.Asp468His)
 ClinVar gnomAD v4
18g.33738923G=CA2294855745ASXL3c.1522G= (p.Asp508=)
c.1519G= (p.Asp507=)
c.*643G= (n.*643G=)
c.*1178G= (n.*1178G=)
c.1731G= (n.1731G=)
c.1351G= (p.Asp451=)
c.1399G= (p.Asp467=)
c.1495G= (p.Asp499=)
c.1441G= (p.Asp481=)
c.1402G= (p.Asp468=)
18g.33738923G>TCA402175753ASXL3c.1522G>T (p.Asp508Tyr)
c.1519G>T (p.Asp507Tyr)
c.*643G>T (n.*643G>T)
c.*1178G>T (n.*1178G>T)
c.1731G>T (n.1731G>T)
c.1351G>T (p.Asp451Tyr)
c.1399G>T (p.Asp467Tyr)
c.1495G>T (p.Asp499Tyr)
c.1441G>T (p.Asp481Tyr)
c.1402G>T (p.Asp468Tyr)
 COSMIC COSMIC
18g.33738924A>CCA402175754ASXL3c.1523A>C (p.Asp508Ala)
c.1520A>C (p.Asp507Ala)
c.*644A>C (n.*644A>C)
c.*1179A>C (n.*1179A>C)
c.1732A>C (n.1732A>C)
c.1352A>C (p.Asp451Ala)
c.1400A>C (p.Asp467Ala)
c.1496A>C (p.Asp499Ala)
c.1442A>C (p.Asp481Ala)
c.1403A>C (p.Asp468Ala)
18g.33738924A>GCA402175755ASXL3c.1523A>G (p.Asp508Gly)
c.1520A>G (p.Asp507Gly)
c.*644A>G (n.*644A>G)
c.*1179A>G (n.*1179A>G)
c.1732A>G (n.1732A>G)
c.1352A>G (p.Asp451Gly)
c.1400A>G (p.Asp467Gly)
c.1496A>G (p.Asp499Gly)
c.1442A>G (p.Asp481Gly)
c.1403A>G (p.Asp468Gly)
18g.33738924A>TCA402175756ASXL3c.1523A>T (p.Asp508Val)
c.1520A>T (p.Asp507Val)
c.*644A>T (n.*644A>T)
c.*1179A>T (n.*1179A>T)
c.1732A>T (n.1732A>T)
c.1352A>T (p.Asp451Val)
c.1400A>T (p.Asp467Val)
c.1496A>T (p.Asp499Val)
c.1442A>T (p.Asp481Val)
c.1403A>T (p.Asp468Val)
18g.33738925T>ACA402175757ASXL3c.1524T>A (p.Asp508Glu)
c.1521T>A (p.Asp507Glu)
c.*645T>A (n.*645T>A)
c.*1180T>A (n.*1180T>A)
c.1733T>A (n.1733T>A)
c.1353T>A (p.Asp451Glu)
c.1401T>A (p.Asp467Glu)
c.1497T>A (p.Asp499Glu)
c.1443T>A (p.Asp481Glu)
c.1404T>A (p.Asp468Glu)
18g.33738925T>CCA503768428ASXL3c.1524T>C (p.Asp508=)
c.1521T>C (p.Asp507=)
c.*645T>C (n.*645T>C)
c.*1180T>C (n.*1180T>C)
c.1733T>C (n.1733T>C)
c.1353T>C (p.Asp451=)
c.1401T>C (p.Asp467=)
c.1497T>C (p.Asp499=)
c.1443T>C (p.Asp481=)
c.1404T>C (p.Asp468=)
 gnomAD v4
18g.33738925T>GCA402175758ASXL3c.1524T>G (p.Asp508Glu)
c.1521T>G (p.Asp507Glu)
c.*645T>G (n.*645T>G)
c.*1180T>G (n.*1180T>G)
c.1733T>G (n.1733T>G)
c.1353T>G (p.Asp451Glu)
c.1401T>G (p.Asp467Glu)
c.1497T>G (p.Asp499Glu)
c.1443T>G (p.Asp481Glu)
c.1404T>G (p.Asp468Glu)
18g.33738926G>ACA402175759ASXL3c.1525G>A (p.Val509Ile)
c.1522G>A (p.Val508Ile)
c.*646G>A (n.*646G>A)
c.*1181G>A (n.*1181G>A)
c.1734G>A (n.1734G>A)
c.1354G>A (p.Val452Ile)
c.1402G>A (p.Val468Ile)
c.1498G>A (p.Val500Ile)
c.1444G>A (p.Val482Ile)
c.1405G>A (p.Val469Ile)
 gnomAD v4
18g.33738926G>CCA402175760ASXL3c.1525G>C (p.Val509Leu)
c.1522G>C (p.Val508Leu)
c.*646G>C (n.*646G>C)
c.*1181G>C (n.*1181G>C)
c.1734G>C (n.1734G>C)
c.1354G>C (p.Val452Leu)
c.1402G>C (p.Val468Leu)
c.1498G>C (p.Val500Leu)
c.1444G>C (p.Val482Leu)
c.1405G>C (p.Val469Leu)
18g.33738926G>TCA402175761ASXL3c.1525G>T (p.Val509Phe)
c.1522G>T (p.Val508Phe)
c.*646G>T (n.*646G>T)
c.*1181G>T (n.*1181G>T)
c.1734G>T (n.1734G>T)
c.1354G>T (p.Val452Phe)
c.1402G>T (p.Val468Phe)
c.1498G>T (p.Val500Phe)
c.1444G>T (p.Val482Phe)
c.1405G>T (p.Val469Phe)
18g.33738927T>ACA402175762ASXL3c.1526T>A (p.Val509Asp)
c.1523T>A (p.Val508Asp)
c.*647T>A (n.*647T>A)
c.*1182T>A (n.*1182T>A)
c.1735T>A (n.1735T>A)
c.1355T>A (p.Val452Asp)
c.1403T>A (p.Val468Asp)
c.1499T>A (p.Val500Asp)
c.1445T>A (p.Val482Asp)
c.1406T>A (p.Val469Asp)
18g.33738927T>CCA402175763ASXL3c.1526T>C (p.Val509Ala)
c.1523T>C (p.Val508Ala)
c.*647T>C (n.*647T>C)
c.*1182T>C (n.*1182T>C)
c.1735T>C (n.1735T>C)
c.1355T>C (p.Val452Ala)
c.1403T>C (p.Val468Ala)
c.1499T>C (p.Val500Ala)
c.1445T>C (p.Val482Ala)
c.1406T>C (p.Val469Ala)
18g.33738927T>GCA402175764ASXL3c.1526T>G (p.Val509Gly)
c.1523T>G (p.Val508Gly)
c.*647T>G (n.*647T>G)
c.*1182T>G (n.*1182T>G)
c.1735T>G (n.1735T>G)
c.1355T>G (p.Val452Gly)
c.1403T>G (p.Val468Gly)
c.1499T>G (p.Val500Gly)
c.1445T>G (p.Val482Gly)
c.1406T>G (p.Val469Gly)
18g.33738928T>ACA503768430ASXL3c.1527T>A (p.Val509=)
c.1524T>A (p.Val508=)
c.*648T>A (n.*648T>A)
c.*1183T>A (n.*1183T>A)
c.1736T>A (n.1736T>A)
c.1356T>A (p.Val452=)
c.1404T>A (p.Val468=)
c.1500T>A (p.Val500=)
c.1446T>A (p.Val482=)
c.1407T>A (p.Val469=)
18g.33738928T>CCA503768431ASXL3c.1527T>C (p.Val509=)
c.1524T>C (p.Val508=)
c.*648T>C (n.*648T>C)
c.*1183T>C (n.*1183T>C)
c.1736T>C (n.1736T>C)
c.1356T>C (p.Val452=)
c.1404T>C (p.Val468=)
c.1500T>C (p.Val500=)
c.1446T>C (p.Val482=)
c.1407T>C (p.Val469=)
18g.33738928T>GCA503768432ASXL3c.1527T>G (p.Val509=)
c.1524T>G (p.Val508=)
c.*648T>G (n.*648T>G)
c.*1183T>G (n.*1183T>G)
c.1736T>G (n.1736T>G)
c.1356T>G (p.Val452=)
c.1404T>G (p.Val468=)
c.1500T>G (p.Val500=)
c.1446T>G (p.Val482=)
c.1407T>G (p.Val469=)
18g.33738929T>ACA402175766ASXL3c.1528T>A (p.Leu510Ile)
c.1525T>A (p.Leu509Ile)
c.*649T>A (n.*649T>A)
c.*1184T>A (n.*1184T>A)
c.1737T>A (n.1737T>A)
c.1357T>A (p.Leu453Ile)
c.1405T>A (p.Leu469Ile)
c.1501T>A (p.Leu501Ile)
c.1447T>A (p.Leu483Ile)
c.1408T>A (p.Leu470Ile)
18g.33738929T>CCA503768433ASXL3c.1528T>C (p.Leu510=)
c.1525T>C (p.Leu509=)
c.*649T>C (n.*649T>C)
c.*1184T>C (n.*1184T>C)
c.1737T>C (n.1737T>C)
c.1357T>C (p.Leu453=)
c.1405T>C (p.Leu469=)
c.1501T>C (p.Leu501=)
c.1447T>C (p.Leu483=)
c.1408T>C (p.Leu470=)
 dbSNP
18g.33738929T>GCA402175765ASXL3c.1528T>G (p.Leu510Val)
c.1525T>G (p.Leu509Val)
c.*649T>G (n.*649T>G)
c.*1184T>G (n.*1184T>G)
c.1737T>G (n.1737T>G)
c.1357T>G (p.Leu453Val)
c.1405T>G (p.Leu469Val)
c.1501T>G (p.Leu501Val)
c.1447T>G (p.Leu483Val)
c.1408T>G (p.Leu470Val)
18g.33738930T>ACA402175767ASXL3c.1529T>A (p.Leu510Ter)
c.1526T>A (p.Leu509Ter)
c.*650T>A (n.*650T>A)
c.*1185T>A (n.*1185T>A)
c.1738T>A (n.1738T>A)
c.1358T>A (p.Leu453Ter)
c.1406T>A (p.Leu469Ter)
c.1502T>A (p.Leu501Ter)
c.1448T>A (p.Leu483Ter)
c.1409T>A (p.Leu470Ter)
18g.33738930T>CCA402175768ASXL3c.1529T>C (p.Leu510Ser)
c.1526T>C (p.Leu509Ser)
c.*650T>C (n.*650T>C)
c.*1185T>C (n.*1185T>C)
c.1738T>C (n.1738T>C)
c.1358T>C (p.Leu453Ser)
c.1406T>C (p.Leu469Ser)
c.1502T>C (p.Leu501Ser)
c.1448T>C (p.Leu483Ser)
c.1409T>C (p.Leu470Ser)
18g.33738930T>GCA402175769ASXL3c.1529T>G (p.Leu510Ter)
c.1526T>G (p.Leu509Ter)
c.*650T>G (n.*650T>G)
c.*1185T>G (n.*1185T>G)
c.1738T>G (n.1738T>G)
c.1358T>G (p.Leu453Ter)
c.1406T>G (p.Leu469Ter)
c.1502T>G (p.Leu501Ter)
c.1448T>G (p.Leu483Ter)
c.1409T>G (p.Leu470Ter)
18g.33738930T=CA2294855746ASXL3c.1529T= (p.Leu510=)
c.1526T= (p.Leu509=)
c.*650T= (n.*650T=)
c.*1185T= (n.*1185T=)
c.1738T= (n.1738T=)
c.1358T= (p.Leu453=)
c.1406T= (p.Leu469=)
c.1502T= (p.Leu501=)
c.1448T= (p.Leu483=)
c.1409T= (p.Leu470=)
18g.33738931A>CCA402175770ASXL3c.1530A>C (p.Leu510Phe)
c.1527A>C (p.Leu509Phe)
c.*651A>C (n.*651A>C)
c.*1186A>C (n.*1186A>C)
c.1739A>C (n.1739A>C)
c.1359A>C (p.Leu453Phe)
c.1407A>C (p.Leu469Phe)
c.1503A>C (p.Leu501Phe)
c.1449A>C (p.Leu483Phe)
c.1410A>C (p.Leu470Phe)
 gnomAD v4
18g.33738931A>GCA503768434ASXL3c.1530A>G (p.Leu510=)
c.1527A>G (p.Leu509=)
c.*651A>G (n.*651A>G)
c.*1186A>G (n.*1186A>G)
c.1739A>G (n.1739A>G)
c.1359A>G (p.Leu453=)
c.1407A>G (p.Leu469=)
c.1503A>G (p.Leu501=)
c.1449A>G (p.Leu483=)
c.1410A>G (p.Leu470=)
18g.33738931A>TCA402175771ASXL3c.1530A>T (p.Leu510Phe)
c.1527A>T (p.Leu509Phe)
c.*651A>T (n.*651A>T)
c.*1186A>T (n.*1186A>T)
c.1739A>T (n.1739A>T)
c.1359A>T (p.Leu453Phe)
c.1407A>T (p.Leu469Phe)
c.1503A>T (p.Leu501Phe)
c.1449A>T (p.Leu483Phe)
c.1410A>T (p.Leu470Phe)
18g.33738935_33738976dupCA629454084ASXL3c.1534_1575dup (p.Glu525_Ser526insThrLeuProHisIleGluValLysIleGluGlyLysSerGlu)
c.1531_1572dup (p.Glu524_Ser525insThrLeuProHisIleGluValLysIleGluGlyLysSerGlu)
c.*655_*696dup (n.*655_*696dup)
c.*1190_*1231dup (n.*1190_*1231dup)
c.1743_1784dup (n.1743_1784dup)
c.1363_1404dup (p.Glu468_Ser469insThrLeuProHisIleGluValLysIleGluGlyLysSerGlu)
c.1411_1452dup (p.Glu484_Ser485insThrLeuProHisIleGluValLysIleGluGlyLysSerGlu)
c.1507_1548dup (p.Glu516_Ser517insThrLeuProHisIleGluValLysIleGluGlyLysSerGlu)
c.1453_1494dup (p.Glu498_Ser499insThrLeuProHisIleGluValLysIleGluGlyLysSerGlu)
c.1414_1455dup (p.Glu485_Ser486insThrLeuProHisIleGluValLysIleGluGlyLysSerGlu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33738932G>ACA402175774ASXL3c.1531G>A (p.Glu511Lys)
c.1528G>A (p.Glu510Lys)
c.*652G>A (n.*652G>A)
c.*1187G>A (n.*1187G>A)
c.1740G>A (n.1740G>A)
c.1360G>A (p.Glu454Lys)
c.1408G>A (p.Glu470Lys)
c.1504G>A (p.Glu502Lys)
c.1450G>A (p.Glu484Lys)
c.1411G>A (p.Glu471Lys)
18g.33738932G>CCA402175773ASXL3c.1531G>C (p.Glu511Gln)
c.1528G>C (p.Glu510Gln)
c.*652G>C (n.*652G>C)
c.*1187G>C (n.*1187G>C)
c.1740G>C (n.1740G>C)
c.1360G>C (p.Glu454Gln)
c.1408G>C (p.Glu470Gln)
c.1504G>C (p.Glu502Gln)
c.1450G>C (p.Glu484Gln)
c.1411G>C (p.Glu471Gln)
18g.33738932G>TCA402175772ASXL3c.1531G>T (p.Glu511Ter)
c.1528G>T (p.Glu510Ter)
c.*652G>T (n.*652G>T)
c.*1187G>T (n.*1187G>T)
c.1740G>T (n.1740G>T)
c.1360G>T (p.Glu454Ter)
c.1408G>T (p.Glu470Ter)
c.1504G>T (p.Glu502Ter)
c.1450G>T (p.Glu484Ter)
c.1411G>T (p.Glu471Ter)
18g.33738933A>CCA402175775ASXL3c.1532A>C (p.Glu511Ala)
c.1529A>C (p.Glu510Ala)
c.*653A>C (n.*653A>C)
c.*1188A>C (n.*1188A>C)
c.1741A>C (n.1741A>C)
c.1361A>C (p.Glu454Ala)
c.1409A>C (p.Glu470Ala)
c.1505A>C (p.Glu502Ala)
c.1451A>C (p.Glu484Ala)
c.1412A>C (p.Glu471Ala)
18g.33738933A>GCA402175776ASXL3c.1532A>G (p.Glu511Gly)
c.1529A>G (p.Glu510Gly)
c.*653A>G (n.*653A>G)
c.*1188A>G (n.*1188A>G)
c.1741A>G (n.1741A>G)
c.1361A>G (p.Glu454Gly)
c.1409A>G (p.Glu470Gly)
c.1505A>G (p.Glu502Gly)
c.1451A>G (p.Glu484Gly)
c.1412A>G (p.Glu471Gly)
18g.33738933A>TCA402175777ASXL3c.1532A>T (p.Glu511Val)
c.1529A>T (p.Glu510Val)
c.*653A>T (n.*653A>T)
c.*1188A>T (n.*1188A>T)
c.1741A>T (n.1741A>T)
c.1361A>T (p.Glu454Val)
c.1409A>T (p.Glu470Val)
c.1505A>T (p.Glu502Val)
c.1451A>T (p.Glu484Val)
c.1412A>T (p.Glu471Val)
18g.33738934A=CA2294855747ASXL3c.1533A= (p.Glu511=)
c.1530A= (p.Glu510=)
c.*654A= (n.*654A=)
c.*1189A= (n.*1189A=)
c.1742A= (n.1742A=)
c.1362A= (p.Glu454=)
c.1410A= (p.Glu470=)
c.1506A= (p.Glu502=)
c.1452A= (p.Glu484=)
c.1413A= (p.Glu471=)
18g.33738934A>CCA402175778ASXL3c.1533A>C (p.Glu511Asp)
c.1530A>C (p.Glu510Asp)
c.*654A>C (n.*654A>C)
c.*1189A>C (n.*1189A>C)
c.1742A>C (n.1742A>C)
c.1362A>C (p.Glu454Asp)
c.1410A>C (p.Glu470Asp)
c.1506A>C (p.Glu502Asp)
c.1452A>C (p.Glu484Asp)
c.1413A>C (p.Glu471Asp)
 dbSNP
18g.33738934A>GCA8933768ASXL3c.1533A>G (p.Glu511=)
c.1530A>G (p.Glu510=)
c.*654A>G (n.*654A>G)
c.*1189A>G (n.*1189A>G)
c.1742A>G (n.1742A>G)
c.1362A>G (p.Glu454=)
c.1410A>G (p.Glu470=)
c.1506A>G (p.Glu502=)
c.1452A>G (p.Glu484=)
c.1413A>G (p.Glu471=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33738934A>TCA402175779ASXL3c.1533A>T (p.Glu511Asp)
c.1530A>T (p.Glu510Asp)
c.*654A>T (n.*654A>T)
c.*1189A>T (n.*1189A>T)
c.1742A>T (n.1742A>T)
c.1362A>T (p.Glu454Asp)
c.1410A>T (p.Glu470Asp)
c.1506A>T (p.Glu502Asp)
c.1452A>T (p.Glu484Asp)
c.1413A>T (p.Glu471Asp)
18g.33738935A=CA2294855748ASXL3c.1534A= (p.Thr512=)
c.1531A= (p.Thr511=)
c.*655A= (n.*655A=)
c.*1190A= (n.*1190A=)
c.1743A= (n.1743A=)
c.1363A= (p.Thr455=)
c.1411A= (p.Thr471=)
c.1507A= (p.Thr503=)
c.1453A= (p.Thr485=)
c.1414A= (p.Thr472=)
18g.33738935A>CCA402175780ASXL3c.1534A>C (p.Thr512Pro)
c.1531A>C (p.Thr511Pro)
c.*655A>C (n.*655A>C)
c.*1190A>C (n.*1190A>C)
c.1743A>C (n.1743A>C)
c.1363A>C (p.Thr455Pro)
c.1411A>C (p.Thr471Pro)
c.1507A>C (p.Thr503Pro)
c.1453A>C (p.Thr485Pro)
c.1414A>C (p.Thr472Pro)
18g.33738935A>GCA402175782ASXL3c.1534A>G (p.Thr512Ala)
c.1531A>G (p.Thr511Ala)
c.*655A>G (n.*655A>G)
c.*1190A>G (n.*1190A>G)
c.1743A>G (n.1743A>G)
c.1363A>G (p.Thr455Ala)
c.1411A>G (p.Thr471Ala)
c.1507A>G (p.Thr503Ala)
c.1453A>G (p.Thr485Ala)
c.1414A>G (p.Thr472Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33738935A>TCA402175781ASXL3c.1534A>T (p.Thr512Ser)
c.1531A>T (p.Thr511Ser)
c.*655A>T (n.*655A>T)
c.*1190A>T (n.*1190A>T)
c.1743A>T (n.1743A>T)
c.1363A>T (p.Thr455Ser)
c.1411A>T (p.Thr471Ser)
c.1507A>T (p.Thr503Ser)
c.1453A>T (p.Thr485Ser)
c.1414A>T (p.Thr472Ser)
18g.33738936C>ACA402175783ASXL3c.1535C>A (p.Thr512Asn)
c.1532C>A (p.Thr511Asn)
c.*656C>A (n.*656C>A)
c.*1191C>A (n.*1191C>A)
c.1744C>A (n.1744C>A)
c.1364C>A (p.Thr455Asn)
c.1412C>A (p.Thr471Asn)
c.1508C>A (p.Thr503Asn)
c.1454C>A (p.Thr485Asn)
c.1415C>A (p.Thr472Asn)
18g.33738936C=CA2294855750ASXL3c.1535C= (p.Thr512=)
c.1532C= (p.Thr511=)
c.*656C= (n.*656C=)
c.*1191C= (n.*1191C=)
c.1744C= (n.1744C=)
c.1364C= (p.Thr455=)
c.1412C= (p.Thr471=)
c.1508C= (p.Thr503=)
c.1454C= (p.Thr485=)
c.1415C= (p.Thr472=)
18g.33738936C>GCA402175784ASXL3c.1535C>G (p.Thr512Ser)
c.1532C>G (p.Thr511Ser)
c.*656C>G (n.*656C>G)
c.*1191C>G (n.*1191C>G)
c.1744C>G (n.1744C>G)
c.1364C>G (p.Thr455Ser)
c.1412C>G (p.Thr471Ser)
c.1508C>G (p.Thr503Ser)
c.1454C>G (p.Thr485Ser)
c.1415C>G (p.Thr472Ser)
18g.33738936C>TCA402175785ASXL3c.1535C>T (p.Thr512Ile)
c.1532C>T (p.Thr511Ile)
c.*656C>T (n.*656C>T)
c.*1191C>T (n.*1191C>T)
c.1744C>T (n.1744C>T)
c.1364C>T (p.Thr455Ile)
c.1412C>T (p.Thr471Ile)
c.1508C>T (p.Thr503Ile)
c.1454C>T (p.Thr485Ile)
c.1415C>T (p.Thr472Ile)
 dbSNP gnomAD v4
18g.33738936_33738938delinsCTTCA2294855749ASXL3c.1535_1537delinsCTT (p.Thr512=)
c.1532_1534delinsCTT (p.Thr511=)
c.*656_*658delinsCTT (n.*656_*658delinsCTT)
c.*1191_*1193delinsCTT (n.*1191_*1193delinsCTT)
c.1744_1746delinsCTT (n.1744_1746delinsCTT)
c.1364_1366delinsCTT (p.Thr455=)
c.1412_1414delinsCTT (p.Thr471=)
c.1508_1510delinsCTT (p.Thr503=)
c.1454_1456delinsCTT (p.Thr485=)
c.1415_1417delinsCTT (p.Thr472=)
18g.33738936_33738953delCA2576484111ASXL3c.1535_1552del (p.Thr512_Val518delinsIle)
c.1532_1549del (p.Thr511_Val517delinsIle)
c.*656_*673del (n.*656_*673del)
c.*1191_*1208del (n.*1191_*1208del)
c.1744_1761del (n.1744_1761del)
c.1364_1381del (p.Thr455_Val461delinsIle)
c.1412_1429del (p.Thr471_Val477delinsIle)
c.1508_1525del (p.Thr503_Val509delinsIle)
c.1454_1471del (p.Thr485_Val491delinsIle)
c.1415_1432del (p.Thr472_Val478delinsIle)
 gnomAD v4
18g.33738937T>ACA503768439ASXL3c.1536T>A (p.Thr512=)
c.1533T>A (p.Thr511=)
c.*657T>A (n.*657T>A)
c.*1192T>A (n.*1192T>A)
c.1745T>A (n.1745T>A)
c.1365T>A (p.Thr455=)
c.1413T>A (p.Thr471=)
c.1509T>A (p.Thr503=)
c.1455T>A (p.Thr485=)
c.1416T>A (p.Thr472=)
18g.33738937T>CCA503768440ASXL3c.1536T>C (p.Thr512=)
c.1533T>C (p.Thr511=)
c.*657T>C (n.*657T>C)
c.*1192T>C (n.*1192T>C)
c.1745T>C (n.1745T>C)
c.1365T>C (p.Thr455=)
c.1413T>C (p.Thr471=)
c.1509T>C (p.Thr503=)
c.1455T>C (p.Thr485=)
c.1416T>C (p.Thr472=)
18g.33738937T>GCA503768441ASXL3c.1536T>G (p.Thr512=)
c.1533T>G (p.Thr511=)
c.*657T>G (n.*657T>G)
c.*1192T>G (n.*1192T>G)
c.1745T>G (n.1745T>G)
c.1365T>G (p.Thr455=)
c.1413T>G (p.Thr471=)
c.1509T>G (p.Thr503=)
c.1455T>G (p.Thr485=)
c.1416T>G (p.Thr472=)
18g.33738938_33738939delCA658799027ASXL3c.1537_1538del (p.Leu513AlafsTer4)
c.1534_1535del (p.Leu512AlafsTer4)
c.*658_*659del (n.*658_*659del)
c.*1193_*1194del (n.*1193_*1194del)
c.1746_1747del (n.1746_1747del)
c.1366_1367del (p.Leu456AlafsTer4)
c.1414_1415del (p.Leu472AlafsTer4)
c.1510_1511del (p.Leu504AlafsTer4)
c.1456_1457del (p.Leu486AlafsTer4)
c.1417_1418del (p.Leu473AlafsTer4)
 ClinVar dbSNP
18g.33738938T>ACA402175786ASXL3c.1537T>A (p.Leu513Met)
c.1534T>A (p.Leu512Met)
c.*658T>A (n.*658T>A)
c.*1193T>A (n.*1193T>A)
c.1746T>A (n.1746T>A)
c.1366T>A (p.Leu456Met)
c.1414T>A (p.Leu472Met)
c.1510T>A (p.Leu504Met)
c.1456T>A (p.Leu486Met)
c.1417T>A (p.Leu473Met)
18g.33738938T>CCA503768445ASXL3c.1537T>C (p.Leu513=)
c.1534T>C (p.Leu512=)
c.*658T>C (n.*658T>C)
c.*1193T>C (n.*1193T>C)
c.1746T>C (n.1746T>C)
c.1366T>C (p.Leu456=)
c.1414T>C (p.Leu472=)
c.1510T>C (p.Leu504=)
c.1456T>C (p.Leu486=)
c.1417T>C (p.Leu473=)
18g.33738938T>GCA402175787ASXL3c.1537T>G (p.Leu513Val)
c.1534T>G (p.Leu512Val)
c.*658T>G (n.*658T>G)
c.*1193T>G (n.*1193T>G)
c.1746T>G (n.1746T>G)
c.1366T>G (p.Leu456Val)
c.1414T>G (p.Leu472Val)
c.1510T>G (p.Leu504Val)
c.1456T>G (p.Leu486Val)
c.1417T>G (p.Leu473Val)
 dbSNP
18g.33738938T=CA2294855751ASXL3c.1537T= (p.Leu513=)
c.1534T= (p.Leu512=)
c.*658T= (n.*658T=)
c.*1193T= (n.*1193T=)
c.1746T= (n.1746T=)
c.1366T= (p.Leu456=)
c.1414T= (p.Leu472=)
c.1510T= (p.Leu504=)
c.1456T= (p.Leu486=)
c.1417T= (p.Leu473=)
18g.33738939T>ACA402175788ASXL3c.1538T>A (p.Leu513Ter)
c.1535T>A (p.Leu512Ter)
c.*659T>A (n.*659T>A)
c.*1194T>A (n.*1194T>A)
c.1747T>A (n.1747T>A)
c.1367T>A (p.Leu456Ter)
c.1415T>A (p.Leu472Ter)
c.1511T>A (p.Leu504Ter)
c.1457T>A (p.Leu486Ter)
c.1418T>A (p.Leu473Ter)
 ClinVar dbSNP
18g.33738939T>CCA402175789ASXL3c.1538T>C (p.Leu513Ser)
c.1535T>C (p.Leu512Ser)
c.*659T>C (n.*659T>C)
c.*1194T>C (n.*1194T>C)
c.1747T>C (n.1747T>C)
c.1367T>C (p.Leu456Ser)
c.1415T>C (p.Leu472Ser)
c.1511T>C (p.Leu504Ser)
c.1457T>C (p.Leu486Ser)
c.1418T>C (p.Leu473Ser)
18g.33738939T>GCA402175790ASXL3c.1538T>G (p.Leu513Trp)
c.1535T>G (p.Leu512Trp)
c.*659T>G (n.*659T>G)
c.*1194T>G (n.*1194T>G)
c.1747T>G (n.1747T>G)
c.1367T>G (p.Leu456Trp)
c.1415T>G (p.Leu472Trp)
c.1511T>G (p.Leu504Trp)
c.1457T>G (p.Leu486Trp)
c.1418T>G (p.Leu473Trp)
18g.33738939T=CA2294855752ASXL3c.1538T= (p.Leu513=)
c.1535T= (p.Leu512=)
c.*659T= (n.*659T=)
c.*1194T= (n.*1194T=)
c.1747T= (n.1747T=)
c.1367T= (p.Leu456=)
c.1415T= (p.Leu472=)
c.1511T= (p.Leu504=)
c.1457T= (p.Leu486=)
c.1418T= (p.Leu473=)
18g.33738940G>ACA503768447ASXL3c.1539G>A (p.Leu513=)
c.1536G>A (p.Leu512=)
c.*660G>A (n.*660G>A)
c.*1195G>A (n.*1195G>A)
c.1748G>A (n.1748G>A)
c.1368G>A (p.Leu456=)
c.1416G>A (p.Leu472=)
c.1512G>A (p.Leu504=)
c.1458G>A (p.Leu486=)
c.1419G>A (p.Leu473=)
18g.33738940G>CCA402175791ASXL3c.1539G>C (p.Leu513Phe)
c.1536G>C (p.Leu512Phe)
c.*660G>C (n.*660G>C)
c.*1195G>C (n.*1195G>C)
c.1748G>C (n.1748G>C)
c.1368G>C (p.Leu456Phe)
c.1416G>C (p.Leu472Phe)
c.1512G>C (p.Leu504Phe)
c.1458G>C (p.Leu486Phe)
c.1419G>C (p.Leu473Phe)
18g.33738940G>TCA402175792ASXL3c.1539G>T (p.Leu513Phe)
c.1536G>T (p.Leu512Phe)
c.*660G>T (n.*660G>T)
c.*1195G>T (n.*1195G>T)
c.1748G>T (n.1748G>T)
c.1368G>T (p.Leu456Phe)
c.1416G>T (p.Leu472Phe)
c.1512G>T (p.Leu504Phe)
c.1458G>T (p.Leu486Phe)
c.1419G>T (p.Leu473Phe)
 gnomAD v4
18g.33738941C>ACA402175795ASXL3c.1540C>A (p.Pro514Thr)
c.1537C>A (p.Pro513Thr)
c.*661C>A (n.*661C>A)
c.*1196C>A (n.*1196C>A)
c.1749C>A (n.1749C>A)
c.1369C>A (p.Pro457Thr)
c.1417C>A (p.Pro473Thr)
c.1513C>A (p.Pro505Thr)
c.1459C>A (p.Pro487Thr)
c.1420C>A (p.Pro474Thr)
 gnomAD v4
18g.33738941C=CA2294855753ASXL3c.1540C= (p.Pro514=)
c.1537C= (p.Pro513=)
c.*661C= (n.*661C=)
c.*1196C= (n.*1196C=)
c.1749C= (n.1749C=)
c.1369C= (p.Pro457=)
c.1417C= (p.Pro473=)
c.1513C= (p.Pro505=)
c.1459C= (p.Pro487=)
c.1420C= (p.Pro474=)
18g.33738941C>GCA402175794ASXL3c.1540C>G (p.Pro514Ala)
c.1537C>G (p.Pro513Ala)
c.*661C>G (n.*661C>G)
c.*1196C>G (n.*1196C>G)
c.1749C>G (n.1749C>G)
c.1369C>G (p.Pro457Ala)
c.1417C>G (p.Pro473Ala)
c.1513C>G (p.Pro505Ala)
c.1459C>G (p.Pro487Ala)
c.1420C>G (p.Pro474Ala)
 dbSNP gnomAD v4
18g.33738941C>TCA402175793ASXL3c.1540C>T (p.Pro514Ser)
c.1537C>T (p.Pro513Ser)
c.*661C>T (n.*661C>T)
c.*1196C>T (n.*1196C>T)
c.1749C>T (n.1749C>T)
c.1369C>T (p.Pro457Ser)
c.1417C>T (p.Pro473Ser)
c.1513C>T (p.Pro505Ser)
c.1459C>T (p.Pro487Ser)
c.1420C>T (p.Pro474Ser)
 gnomAD v4
18g.33738942C>ACA402175796ASXL3c.1541C>A (p.Pro514His)
c.1538C>A (p.Pro513His)
c.*662C>A (n.*662C>A)
c.*1197C>A (n.*1197C>A)
c.1750C>A (n.1750C>A)
c.1370C>A (p.Pro457His)
c.1418C>A (p.Pro473His)
c.1514C>A (p.Pro505His)
c.1460C>A (p.Pro487His)
c.1421C>A (p.Pro474His)
18g.33738942C=CA2294855754ASXL3c.1541C= (p.Pro514=)
c.1538C= (p.Pro513=)
c.*662C= (n.*662C=)
c.*1197C= (n.*1197C=)
c.1750C= (n.1750C=)
c.1370C= (p.Pro457=)
c.1418C= (p.Pro473=)
c.1514C= (p.Pro505=)
c.1460C= (p.Pro487=)
c.1421C= (p.Pro474=)
18g.33738942C>GCA402175798ASXL3c.1541C>G (p.Pro514Arg)
c.1538C>G (p.Pro513Arg)
c.*662C>G (n.*662C>G)
c.*1197C>G (n.*1197C>G)
c.1750C>G (n.1750C>G)
c.1370C>G (p.Pro457Arg)
c.1418C>G (p.Pro473Arg)
c.1514C>G (p.Pro505Arg)
c.1460C>G (p.Pro487Arg)
c.1421C>G (p.Pro474Arg)
 gnomAD v4
18g.33738942C>TCA402175797ASXL3c.1541C>T (p.Pro514Leu)
c.1538C>T (p.Pro513Leu)
c.*662C>T (n.*662C>T)
c.*1197C>T (n.*1197C>T)
c.1750C>T (n.1750C>T)
c.1370C>T (p.Pro457Leu)
c.1418C>T (p.Pro473Leu)
c.1514C>T (p.Pro505Leu)
c.1460C>T (p.Pro487Leu)
c.1421C>T (p.Pro474Leu)
 dbSNP gnomAD v4
18g.33738943T>ACA503768449ASXL3c.1542T>A (p.Pro514=)
c.1539T>A (p.Pro513=)
c.*663T>A (n.*663T>A)
c.*1198T>A (n.*1198T>A)
c.1751T>A (n.1751T>A)
c.1371T>A (p.Pro457=)
c.1419T>A (p.Pro473=)
c.1515T>A (p.Pro505=)
c.1461T>A (p.Pro487=)
c.1422T>A (p.Pro474=)
18g.33738943T>CCA503768451ASXL3c.1542T>C (p.Pro514=)
c.1539T>C (p.Pro513=)
c.*663T>C (n.*663T>C)
c.*1198T>C (n.*1198T>C)
c.1751T>C (n.1751T>C)
c.1371T>C (p.Pro457=)
c.1419T>C (p.Pro473=)
c.1515T>C (p.Pro505=)
c.1461T>C (p.Pro487=)
c.1422T>C (p.Pro474=)
18g.33738943T>GCA503768453ASXL3c.1542T>G (p.Pro514=)
c.1539T>G (p.Pro513=)
c.*663T>G (n.*663T>G)
c.*1198T>G (n.*1198T>G)
c.1751T>G (n.1751T>G)
c.1371T>G (p.Pro457=)
c.1419T>G (p.Pro473=)
c.1515T>G (p.Pro505=)
c.1461T>G (p.Pro487=)
c.1422T>G (p.Pro474=)
18g.33738944C>ACA402175799ASXL3c.1543C>A (p.His515Asn)
c.1540C>A (p.His514Asn)
c.*664C>A (n.*664C>A)
c.*1199C>A (n.*1199C>A)
c.1752C>A (n.1752C>A)
c.1372C>A (p.His458Asn)
c.1420C>A (p.His474Asn)
c.1516C>A (p.His506Asn)
c.1462C>A (p.His488Asn)
c.1423C>A (p.His475Asn)
18g.33738944C=CA2294855755ASXL3c.1543C= (p.His515=)
c.1540C= (p.His514=)
c.*664C= (n.*664C=)
c.*1199C= (n.*1199C=)
c.1752C= (n.1752C=)
c.1372C= (p.His458=)
c.1420C= (p.His474=)
c.1516C= (p.His506=)
c.1462C= (p.His488=)
c.1423C= (p.His475=)
18g.33738944C>GCA402175800ASXL3c.1543C>G (p.His515Asp)
c.1540C>G (p.His514Asp)
c.*664C>G (n.*664C>G)
c.*1199C>G (n.*1199C>G)
c.1752C>G (n.1752C>G)
c.1372C>G (p.His458Asp)
c.1420C>G (p.His474Asp)
c.1516C>G (p.His506Asp)
c.1462C>G (p.His488Asp)
c.1423C>G (p.His475Asp)
 dbSNP gnomAD v2 gnomAD v4
18g.33738944C>TCA297786760ASXL3c.1543C>T (p.His515Tyr)
c.1540C>T (p.His514Tyr)
c.*664C>T (n.*664C>T)
c.*1199C>T (n.*1199C>T)
c.1752C>T (n.1752C>T)
c.1372C>T (p.His458Tyr)
c.1420C>T (p.His474Tyr)
c.1516C>T (p.His506Tyr)
c.1462C>T (p.His488Tyr)
c.1423C>T (p.His475Tyr)
 dbSNP gnomAD v4
18g.33738945A>CCA402175801ASXL3c.1544A>C (p.His515Pro)
c.1541A>C (p.His514Pro)
c.*665A>C (n.*665A>C)
c.*1200A>C (n.*1200A>C)
c.1753A>C (n.1753A>C)
c.1373A>C (p.His458Pro)
c.1421A>C (p.His474Pro)
c.1517A>C (p.His506Pro)
c.1463A>C (p.His488Pro)
c.1424A>C (p.His475Pro)
18g.33738945A>GCA402175802ASXL3c.1544A>G (p.His515Arg)
c.1541A>G (p.His514Arg)
c.*665A>G (n.*665A>G)
c.*1200A>G (n.*1200A>G)
c.1753A>G (n.1753A>G)
c.1373A>G (p.His458Arg)
c.1421A>G (p.His474Arg)
c.1517A>G (p.His506Arg)
c.1463A>G (p.His488Arg)
c.1424A>G (p.His475Arg)
18g.33738945A>TCA402175803ASXL3c.1544A>T (p.His515Leu)
c.1541A>T (p.His514Leu)
c.*665A>T (n.*665A>T)
c.*1200A>T (n.*1200A>T)
c.1753A>T (n.1753A>T)
c.1373A>T (p.His458Leu)
c.1421A>T (p.His474Leu)
c.1517A>T (p.His506Leu)
c.1463A>T (p.His488Leu)
c.1424A>T (p.His475Leu)
18g.33738946T>ACA402175804ASXL3c.1545T>A (p.His515Gln)
c.1542T>A (p.His514Gln)
c.*666T>A (n.*666T>A)
c.*1201T>A (n.*1201T>A)
c.1754T>A (n.1754T>A)
c.1374T>A (p.His458Gln)
c.1422T>A (p.His474Gln)
c.1518T>A (p.His506Gln)
c.1464T>A (p.His488Gln)
c.1425T>A (p.His475Gln)
18g.33738946T>CCA503768459ASXL3c.1545T>C (p.His515=)
c.1542T>C (p.His514=)
c.*666T>C (n.*666T>C)
c.*1201T>C (n.*1201T>C)
c.1754T>C (n.1754T>C)
c.1374T>C (p.His458=)
c.1422T>C (p.His474=)
c.1518T>C (p.His506=)
c.1464T>C (p.His488=)
c.1425T>C (p.His475=)
18g.33738946T>GCA402175805ASXL3c.1545T>G (p.His515Gln)
c.1542T>G (p.His514Gln)
c.*666T>G (n.*666T>G)
c.*1201T>G (n.*1201T>G)
c.1754T>G (n.1754T>G)
c.1374T>G (p.His458Gln)
c.1422T>G (p.His474Gln)
c.1518T>G (p.His506Gln)
c.1464T>G (p.His488Gln)
c.1425T>G (p.His475Gln)
18g.33738947A>CCA402175806ASXL3c.1546A>C (p.Ile516Leu)
c.1543A>C (p.Ile515Leu)
c.*667A>C (n.*667A>C)
c.*1202A>C (n.*1202A>C)
c.1755A>C (n.1755A>C)
c.1375A>C (p.Ile459Leu)
c.1423A>C (p.Ile475Leu)
c.1519A>C (p.Ile507Leu)
c.1465A>C (p.Ile489Leu)
c.1426A>C (p.Ile476Leu)
18g.33738947A>GCA402175807ASXL3c.1546A>G (p.Ile516Val)
c.1543A>G (p.Ile515Val)
c.*667A>G (n.*667A>G)
c.*1202A>G (n.*1202A>G)
c.1755A>G (n.1755A>G)
c.1375A>G (p.Ile459Val)
c.1423A>G (p.Ile475Val)
c.1519A>G (p.Ile507Val)
c.1465A>G (p.Ile489Val)
c.1426A>G (p.Ile476Val)
 COSMIC COSMIC
18g.33738947A>TCA402175808ASXL3c.1546A>T (p.Ile516Phe)
c.1543A>T (p.Ile515Phe)
c.*667A>T (n.*667A>T)
c.*1202A>T (n.*1202A>T)
c.1755A>T (n.1755A>T)
c.1375A>T (p.Ile459Phe)
c.1423A>T (p.Ile475Phe)
c.1519A>T (p.Ile507Phe)
c.1465A>T (p.Ile489Phe)
c.1426A>T (p.Ile476Phe)
18g.33738948T>ACA402175811ASXL3c.1547T>A (p.Ile516Asn)
c.1544T>A (p.Ile515Asn)
c.*668T>A (n.*668T>A)
c.*1203T>A (n.*1203T>A)
c.1756T>A (n.1756T>A)
c.1376T>A (p.Ile459Asn)
c.1424T>A (p.Ile475Asn)
c.1520T>A (p.Ile507Asn)
c.1466T>A (p.Ile489Asn)
c.1427T>A (p.Ile476Asn)
18g.33738948T>CCA402175809ASXL3c.1547T>C (p.Ile516Thr)
c.1544T>C (p.Ile515Thr)
c.*668T>C (n.*668T>C)
c.*1203T>C (n.*1203T>C)
c.1756T>C (n.1756T>C)
c.1376T>C (p.Ile459Thr)
c.1424T>C (p.Ile475Thr)
c.1520T>C (p.Ile507Thr)
c.1466T>C (p.Ile489Thr)
c.1427T>C (p.Ile476Thr)
18g.33738948T>GCA402175810ASXL3c.1547T>G (p.Ile516Ser)
c.1544T>G (p.Ile515Ser)
c.*668T>G (n.*668T>G)
c.*1203T>G (n.*1203T>G)
c.1756T>G (n.1756T>G)
c.1376T>G (p.Ile459Ser)
c.1424T>G (p.Ile475Ser)
c.1520T>G (p.Ile507Ser)
c.1466T>G (p.Ile489Ser)
c.1427T>G (p.Ile476Ser)
18g.33738948T=CA2294855756ASXL3c.1547T= (p.Ile516=)
c.1544T= (p.Ile515=)
c.*668T= (n.*668T=)
c.*1203T= (n.*1203T=)
c.1756T= (n.1756T=)
c.1376T= (p.Ile459=)
c.1424T= (p.Ile475=)
c.1520T= (p.Ile507=)
c.1466T= (p.Ile489=)
c.1427T= (p.Ile476=)
18g.33738949T>ACA503768465ASXL3c.1548T>A (p.Ile516=)
c.1545T>A (p.Ile515=)
c.*669T>A (n.*669T>A)
c.*1204T>A (n.*1204T>A)
c.1757T>A (n.1757T>A)
c.1377T>A (p.Ile459=)
c.1425T>A (p.Ile475=)
c.1521T>A (p.Ile507=)
c.1467T>A (p.Ile489=)
c.1428T>A (p.Ile476=)
18g.33738949T>CCA503768466ASXL3c.1548T>C (p.Ile516=)
c.1545T>C (p.Ile515=)
c.*669T>C (n.*669T>C)
c.*1204T>C (n.*1204T>C)
c.1757T>C (n.1757T>C)
c.1377T>C (p.Ile459=)
c.1425T>C (p.Ile475=)
c.1521T>C (p.Ile507=)
c.1467T>C (p.Ile489=)
c.1428T>C (p.Ile476=)
18g.33738949T>GCA402175812ASXL3c.1548T>G (p.Ile516Met)
c.1545T>G (p.Ile515Met)
c.*669T>G (n.*669T>G)
c.*1204T>G (n.*1204T>G)
c.1757T>G (n.1757T>G)
c.1377T>G (p.Ile459Met)
c.1425T>G (p.Ile475Met)
c.1521T>G (p.Ile507Met)
c.1467T>G (p.Ile489Met)
c.1428T>G (p.Ile476Met)
18g.33738949_33738957dupCA8933769ASXL3c.1548_1556dup (p.Val518_Lys519insAsnGluVal)
c.1545_1553dup (p.Val517_Lys518insAsnGluVal)
c.*669_*677dup (n.*669_*677dup)
c.*1204_*1212dup (n.*1204_*1212dup)
c.1757_1765dup (n.1757_1765dup)
c.1377_1385dup (p.Val461_Lys462insAsnGluVal)
c.1425_1433dup (p.Val477_Lys478insAsnGluVal)
c.1521_1529dup (p.Val509_Lys510insAsnGluVal)
c.1467_1475dup (p.Val491_Lys492insAsnGluVal)
c.1428_1436dup (p.Val478_Lys479insAsnGluVal)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33738950G>ACA402175813ASXL3c.1549G>A (p.Glu517Lys)
c.1546G>A (p.Glu516Lys)
c.*670G>A (n.*670G>A)
c.*1205G>A (n.*1205G>A)
c.1758G>A (n.1758G>A)
c.1378G>A (p.Glu460Lys)
c.1426G>A (p.Glu476Lys)
c.1522G>A (p.Glu508Lys)
c.1468G>A (p.Glu490Lys)
c.1429G>A (p.Glu477Lys)
18g.33738950G>CCA402175814ASXL3c.1549G>C (p.Glu517Gln)
c.1546G>C (p.Glu516Gln)
c.*670G>C (n.*670G>C)
c.*1205G>C (n.*1205G>C)
c.1758G>C (n.1758G>C)
c.1378G>C (p.Glu460Gln)
c.1426G>C (p.Glu476Gln)
c.1522G>C (p.Glu508Gln)
c.1468G>C (p.Glu490Gln)
c.1429G>C (p.Glu477Gln)
18g.33738950G>TCA402175815ASXL3c.1549G>T (p.Glu517Ter)
c.1546G>T (p.Glu516Ter)
c.*670G>T (n.*670G>T)
c.*1205G>T (n.*1205G>T)
c.1758G>T (n.1758G>T)
c.1378G>T (p.Glu460Ter)
c.1426G>T (p.Glu476Ter)
c.1522G>T (p.Glu508Ter)
c.1468G>T (p.Glu490Ter)
c.1429G>T (p.Glu477Ter)
18g.33738951A>CCA402175816ASXL3c.1550A>C (p.Glu517Ala)
c.1547A>C (p.Glu516Ala)
c.*671A>C (n.*671A>C)
c.*1206A>C (n.*1206A>C)
c.1759A>C (n.1759A>C)
c.1379A>C (p.Glu460Ala)
c.1427A>C (p.Glu476Ala)
c.1523A>C (p.Glu508Ala)
c.1469A>C (p.Glu490Ala)
c.1430A>C (p.Glu477Ala)
18g.33738951A>GCA402175817ASXL3c.1550A>G (p.Glu517Gly)
c.1547A>G (p.Glu516Gly)
c.*671A>G (n.*671A>G)
c.*1206A>G (n.*1206A>G)
c.1759A>G (n.1759A>G)
c.1379A>G (p.Glu460Gly)
c.1427A>G (p.Glu476Gly)
c.1523A>G (p.Glu508Gly)
c.1469A>G (p.Glu490Gly)
c.1430A>G (p.Glu477Gly)
18g.33738951A>TCA402175818ASXL3c.1550A>T (p.Glu517Val)
c.1547A>T (p.Glu516Val)
c.*671A>T (n.*671A>T)
c.*1206A>T (n.*1206A>T)
c.1759A>T (n.1759A>T)
c.1379A>T (p.Glu460Val)
c.1427A>T (p.Glu476Val)
c.1523A>T (p.Glu508Val)
c.1469A>T (p.Glu490Val)
c.1430A>T (p.Glu477Val)
18g.33738952A>CCA402175819ASXL3c.1551A>C (p.Glu517Asp)
c.1548A>C (p.Glu516Asp)
c.*672A>C (n.*672A>C)
c.*1207A>C (n.*1207A>C)
c.1760A>C (n.1760A>C)
c.1380A>C (p.Glu460Asp)
c.1428A>C (p.Glu476Asp)
c.1524A>C (p.Glu508Asp)
c.1470A>C (p.Glu490Asp)
c.1431A>C (p.Glu477Asp)
18g.33738952A>GCA503768469ASXL3c.1551A>G (p.Glu517=)
c.1548A>G (p.Glu516=)
c.*672A>G (n.*672A>G)
c.*1207A>G (n.*1207A>G)
c.1760A>G (n.1760A>G)
c.1380A>G (p.Glu460=)
c.1428A>G (p.Glu476=)
c.1524A>G (p.Glu508=)
c.1470A>G (p.Glu490=)
c.1431A>G (p.Glu477=)
18g.33738952A>TCA402175820ASXL3c.1551A>T (p.Glu517Asp)
c.1548A>T (p.Glu516Asp)
c.*672A>T (n.*672A>T)
c.*1207A>T (n.*1207A>T)
c.1760A>T (n.1760A>T)
c.1380A>T (p.Glu460Asp)
c.1428A>T (p.Glu476Asp)
c.1524A>T (p.Glu508Asp)
c.1470A>T (p.Glu490Asp)
c.1431A>T (p.Glu477Asp)
18g.33738953G>ACA402175822ASXL3c.1552G>A (p.Val518Ile)
c.1549G>A (p.Val517Ile)
c.*673G>A (n.*673G>A)
c.*1208G>A (n.*1208G>A)
c.1761G>A (n.1761G>A)
c.1381G>A (p.Val461Ile)
c.1429G>A (p.Val477Ile)
c.1525G>A (p.Val509Ile)
c.1471G>A (p.Val491Ile)
c.1432G>A (p.Val478Ile)
 dbSNP gnomAD v4
18g.33738953G>CCA402175823ASXL3c.1552G>C (p.Val518Leu)
c.1549G>C (p.Val517Leu)
c.*673G>C (n.*673G>C)
c.*1208G>C (n.*1208G>C)
c.1761G>C (n.1761G>C)
c.1381G>C (p.Val461Leu)
c.1429G>C (p.Val477Leu)
c.1525G>C (p.Val509Leu)
c.1471G>C (p.Val491Leu)
c.1432G>C (p.Val478Leu)
18g.33738953G>TCA402175821ASXL3c.1552G>T (p.Val518Phe)
c.1549G>T (p.Val517Phe)
c.*673G>T (n.*673G>T)
c.*1208G>T (n.*1208G>T)
c.1761G>T (n.1761G>T)
c.1381G>T (p.Val461Phe)
c.1429G>T (p.Val477Phe)
c.1525G>T (p.Val509Phe)
c.1471G>T (p.Val491Phe)
c.1432G>T (p.Val478Phe)
 gnomAD v4
18g.33738954T>ACA402175824ASXL3c.1553T>A (p.Val518Asp)
c.1550T>A (p.Val517Asp)
c.*674T>A (n.*674T>A)
c.*1209T>A (n.*1209T>A)
c.1762T>A (n.1762T>A)
c.1382T>A (p.Val461Asp)
c.1430T>A (p.Val477Asp)
c.1526T>A (p.Val509Asp)
c.1472T>A (p.Val491Asp)
c.1433T>A (p.Val478Asp)
18g.33738954T>CCA402175825ASXL3c.1553T>C (p.Val518Ala)
c.1550T>C (p.Val517Ala)
c.*674T>C (n.*674T>C)
c.*1209T>C (n.*1209T>C)
c.1762T>C (n.1762T>C)
c.1382T>C (p.Val461Ala)
c.1430T>C (p.Val477Ala)
c.1526T>C (p.Val509Ala)
c.1472T>C (p.Val491Ala)
c.1433T>C (p.Val478Ala)
18g.33738954T>GCA402175826ASXL3c.1553T>G (p.Val518Gly)
c.1550T>G (p.Val517Gly)
c.*674T>G (n.*674T>G)
c.*1209T>G (n.*1209T>G)
c.1762T>G (n.1762T>G)
c.1382T>G (p.Val461Gly)
c.1430T>G (p.Val477Gly)
c.1526T>G (p.Val509Gly)
c.1472T>G (p.Val491Gly)
c.1433T>G (p.Val478Gly)
18g.33738955T>ACA503768473ASXL3c.1554T>A (p.Val518=)
c.1551T>A (p.Val517=)
c.*675T>A (n.*675T>A)
c.*1210T>A (n.*1210T>A)
c.1763T>A (n.1763T>A)
c.1383T>A (p.Val461=)
c.1431T>A (p.Val477=)
c.1527T>A (p.Val509=)
c.1473T>A (p.Val491=)
c.1434T>A (p.Val478=)
18g.33738955T>CCA503768474ASXL3c.1554T>C (p.Val518=)
c.1551T>C (p.Val517=)
c.*675T>C (n.*675T>C)
c.*1210T>C (n.*1210T>C)
c.1763T>C (n.1763T>C)
c.1383T>C (p.Val461=)
c.1431T>C (p.Val477=)
c.1527T>C (p.Val509=)
c.1473T>C (p.Val491=)
c.1434T>C (p.Val478=)
18g.33738955T>GCA503768475ASXL3c.1554T>G (p.Val518=)
c.1551T>G (p.Val517=)
c.*675T>G (n.*675T>G)
c.*1210T>G (n.*1210T>G)
c.1763T>G (n.1763T>G)
c.1383T>G (p.Val461=)
c.1431T>G (p.Val477=)
c.1527T>G (p.Val509=)
c.1473T>G (p.Val491=)
c.1434T>G (p.Val478=)
 gnomAD v4
18g.33738956A>CCA402175827ASXL3c.1555A>C (p.Lys519Gln)
c.1552A>C (p.Lys518Gln)
c.*676A>C (n.*676A>C)
c.*1211A>C (n.*1211A>C)
c.1764A>C (n.1764A>C)
c.1384A>C (p.Lys462Gln)
c.1432A>C (p.Lys478Gln)
c.1528A>C (p.Lys510Gln)
c.1474A>C (p.Lys492Gln)
c.1435A>C (p.Lys479Gln)
18g.33738956A>GCA402175828ASXL3c.1555A>G (p.Lys519Glu)
c.1552A>G (p.Lys518Glu)
c.*676A>G (n.*676A>G)
c.*1211A>G (n.*1211A>G)
c.1764A>G (n.1764A>G)
c.1384A>G (p.Lys462Glu)
c.1432A>G (p.Lys478Glu)
c.1528A>G (p.Lys510Glu)
c.1474A>G (p.Lys492Glu)
c.1435A>G (p.Lys479Glu)
18g.33738956A>TCA402175829ASXL3c.1555A>T (p.Lys519Ter)
c.1552A>T (p.Lys518Ter)
c.*676A>T (n.*676A>T)
c.*1211A>T (n.*1211A>T)
c.1764A>T (n.1764A>T)
c.1384A>T (p.Lys462Ter)
c.1432A>T (p.Lys478Ter)
c.1528A>T (p.Lys510Ter)
c.1474A>T (p.Lys492Ter)
c.1435A>T (p.Lys479Ter)
18g.33738956_33738959delCA2825002679ASXL3c.1555_1558del (p.Lys519Ter)
c.1552_1555del (p.Lys518Ter)
c.*676_*679del (n.*676_*679del)
c.*1211_*1214del (n.*1211_*1214del)
c.1764_1767del (n.1764_1767del)
c.1384_1387del (p.Lys462Ter)
c.1432_1435del (p.Lys478Ter)
c.1528_1531del (p.Lys510Ter)
c.1474_1477del (p.Lys492Ter)
c.1435_1438del (p.Lys479Ter)
 ClinVar
18g.33738957A>CCA402175832ASXL3c.1556A>C (p.Lys519Thr)
c.1553A>C (p.Lys518Thr)
c.*677A>C (n.*677A>C)
c.*1212A>C (n.*1212A>C)
c.1765A>C (n.1765A>C)
c.1385A>C (p.Lys462Thr)
c.1433A>C (p.Lys478Thr)
c.1529A>C (p.Lys510Thr)
c.1475A>C (p.Lys492Thr)
c.1436A>C (p.Lys479Thr)
18g.33738957A>GCA402175830ASXL3c.1556A>G (p.Lys519Arg)
c.1553A>G (p.Lys518Arg)
c.*677A>G (n.*677A>G)
c.*1212A>G (n.*1212A>G)
c.1765A>G (n.1765A>G)
c.1385A>G (p.Lys462Arg)
c.1433A>G (p.Lys478Arg)
c.1529A>G (p.Lys510Arg)
c.1475A>G (p.Lys492Arg)
c.1436A>G (p.Lys479Arg)
18g.33738957A>TCA402175831ASXL3c.1556A>T (p.Lys519Met)
c.1553A>T (p.Lys518Met)
c.*677A>T (n.*677A>T)
c.*1212A>T (n.*1212A>T)
c.1765A>T (n.1765A>T)
c.1385A>T (p.Lys462Met)
c.1433A>T (p.Lys478Met)
c.1529A>T (p.Lys510Met)
c.1475A>T (p.Lys492Met)
c.1436A>T (p.Lys479Met)
18g.33738958G>ACA503768482ASXL3c.1557G>A (p.Lys519=)
c.1554G>A (p.Lys518=)
c.*678G>A (n.*678G>A)
c.*1213G>A (n.*1213G>A)
c.1766G>A (n.1766G>A)
c.1386G>A (p.Lys462=)
c.1434G>A (p.Lys478=)
c.1530G>A (p.Lys510=)
c.1476G>A (p.Lys492=)
c.1437G>A (p.Lys479=)
18g.33738958G>CCA402175833ASXL3c.1557G>C (p.Lys519Asn)
c.1554G>C (p.Lys518Asn)
c.*678G>C (n.*678G>C)
c.*1213G>C (n.*1213G>C)
c.1766G>C (n.1766G>C)
c.1386G>C (p.Lys462Asn)
c.1434G>C (p.Lys478Asn)
c.1530G>C (p.Lys510Asn)
c.1476G>C (p.Lys492Asn)
c.1437G>C (p.Lys479Asn)
18g.33738958G>TCA402175834ASXL3c.1557G>T (p.Lys519Asn)
c.1554G>T (p.Lys518Asn)
c.*678G>T (n.*678G>T)
c.*1213G>T (n.*1213G>T)
c.1766G>T (n.1766G>T)
c.1386G>T (p.Lys462Asn)
c.1434G>T (p.Lys478Asn)
c.1530G>T (p.Lys510Asn)
c.1476G>T (p.Lys492Asn)
c.1437G>T (p.Lys479Asn)
18g.33738959A>CCA402175835ASXL3c.1558A>C (p.Ile520Leu)
c.1555A>C (p.Ile519Leu)
c.*679A>C (n.*679A>C)
c.*1214A>C (n.*1214A>C)
c.1767A>C (n.1767A>C)
c.1387A>C (p.Ile463Leu)
c.1435A>C (p.Ile479Leu)
c.1531A>C (p.Ile511Leu)
c.1477A>C (p.Ile493Leu)
c.1438A>C (p.Ile480Leu)
18g.33738959A>GCA402175836ASXL3c.1558A>G (p.Ile520Val)
c.1555A>G (p.Ile519Val)
c.*679A>G (n.*679A>G)
c.*1214A>G (n.*1214A>G)
c.1767A>G (n.1767A>G)
c.1387A>G (p.Ile463Val)
c.1435A>G (p.Ile479Val)
c.1531A>G (p.Ile511Val)
c.1477A>G (p.Ile493Val)
c.1438A>G (p.Ile480Val)
 dbSNP gnomAD v4
18g.33738959A>TCA402175837ASXL3c.1558A>T (p.Ile520Leu)
c.1555A>T (p.Ile519Leu)
c.*679A>T (n.*679A>T)
c.*1214A>T (n.*1214A>T)
c.1767A>T (n.1767A>T)
c.1387A>T (p.Ile463Leu)
c.1435A>T (p.Ile479Leu)
c.1531A>T (p.Ile511Leu)
c.1477A>T (p.Ile493Leu)
c.1438A>T (p.Ile480Leu)
18g.33738960T>ACA402175838ASXL3c.1559T>A (p.Ile520Lys)
c.1556T>A (p.Ile519Lys)
c.*680T>A (n.*680T>A)
c.*1215T>A (n.*1215T>A)
c.1768T>A (n.1768T>A)
c.1388T>A (p.Ile463Lys)
c.1436T>A (p.Ile479Lys)
c.1532T>A (p.Ile511Lys)
c.1478T>A (p.Ile493Lys)
c.1439T>A (p.Ile480Lys)
18g.33738960T>CCA8933770ASXL3c.1559T>C (p.Ile520Thr)
c.1556T>C (p.Ile519Thr)
c.*680T>C (n.*680T>C)
c.*1215T>C (n.*1215T>C)
c.1768T>C (n.1768T>C)
c.1388T>C (p.Ile463Thr)
c.1436T>C (p.Ile479Thr)
c.1532T>C (p.Ile511Thr)
c.1478T>C (p.Ile493Thr)
c.1439T>C (p.Ile480Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33738960T>GCA402175839ASXL3c.1559T>G (p.Ile520Arg)
c.1556T>G (p.Ile519Arg)
c.*680T>G (n.*680T>G)
c.*1215T>G (n.*1215T>G)
c.1768T>G (n.1768T>G)
c.1388T>G (p.Ile463Arg)
c.1436T>G (p.Ile479Arg)
c.1532T>G (p.Ile511Arg)
c.1478T>G (p.Ile493Arg)
c.1439T>G (p.Ile480Arg)
18g.33738960T=CA2294855757ASXL3c.1559T= (p.Ile520=)
c.1556T= (p.Ile519=)
c.*680T= (n.*680T=)
c.*1215T= (n.*1215T=)
c.1768T= (n.1768T=)
c.1388T= (p.Ile463=)
c.1436T= (p.Ile479=)
c.1532T= (p.Ile511=)
c.1478T= (p.Ile493=)
c.1439T= (p.Ile480=)
18g.33738961A>CCA503768487ASXL3c.1560A>C (p.Ile520=)
c.1557A>C (p.Ile519=)
c.*681A>C (n.*681A>C)
c.*1216A>C (n.*1216A>C)
c.1769A>C (n.1769A>C)
c.1389A>C (p.Ile463=)
c.1437A>C (p.Ile479=)
c.1533A>C (p.Ile511=)
c.1479A>C (p.Ile493=)
c.1440A>C (p.Ile480=)
18g.33738961A>GCA402175840ASXL3c.1560A>G (p.Ile520Met)
c.1557A>G (p.Ile519Met)
c.*681A>G (n.*681A>G)
c.*1216A>G (n.*1216A>G)
c.1769A>G (n.1769A>G)
c.1389A>G (p.Ile463Met)
c.1437A>G (p.Ile479Met)
c.1533A>G (p.Ile511Met)
c.1479A>G (p.Ile493Met)
c.1440A>G (p.Ile480Met)
18g.33738961A>TCA503768488ASXL3c.1560A>T (p.Ile520=)
c.1557A>T (p.Ile519=)
c.*681A>T (n.*681A>T)
c.*1216A>T (n.*1216A>T)
c.1769A>T (n.1769A>T)
c.1389A>T (p.Ile463=)
c.1437A>T (p.Ile479=)
c.1533A>T (p.Ile511=)
c.1479A>T (p.Ile493=)
c.1440A>T (p.Ile480=)

Number of alleles fetched