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.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=)
18g.33738962G>ACA402175841ASXL3c.1561G>A (p.Glu521Lys)
c.1558G>A (p.Glu520Lys)
c.*682G>A (n.*682G>A)
c.*1217G>A (n.*1217G>A)
c.1770G>A (n.1770G>A)
c.1390G>A (p.Glu464Lys)
c.1438G>A (p.Glu480Lys)
c.1534G>A (p.Glu512Lys)
c.1480G>A (p.Glu494Lys)
c.1441G>A (p.Glu481Lys)
COSMIC COSMIC
18g.33738962G>CCA402175842ASXL3c.1561G>C (p.Glu521Gln)
c.1558G>C (p.Glu520Gln)
c.*682G>C (n.*682G>C)
c.*1217G>C (n.*1217G>C)
c.1770G>C (n.1770G>C)
c.1390G>C (p.Glu464Gln)
c.1438G>C (p.Glu480Gln)
c.1534G>C (p.Glu512Gln)
c.1480G>C (p.Glu494Gln)
c.1441G>C (p.Glu481Gln)
18g.33738962G>TCA402175843ASXL3c.1561G>T (p.Glu521Ter)
c.1558G>T (p.Glu520Ter)
c.*682G>T (n.*682G>T)
c.*1217G>T (n.*1217G>T)
c.1770G>T (n.1770G>T)
c.1390G>T (p.Glu464Ter)
c.1438G>T (p.Glu480Ter)
c.1534G>T (p.Glu512Ter)
c.1480G>T (p.Glu494Ter)
c.1441G>T (p.Glu481Ter)
18g.33738963A>CCA402175844ASXL3c.1562A>C (p.Glu521Ala)
c.1559A>C (p.Glu520Ala)
c.*683A>C (n.*683A>C)
c.*1218A>C (n.*1218A>C)
c.1771A>C (n.1771A>C)
c.1391A>C (p.Glu464Ala)
c.1439A>C (p.Glu480Ala)
c.1535A>C (p.Glu512Ala)
c.1481A>C (p.Glu494Ala)
c.1442A>C (p.Glu481Ala)
18g.33738963A>GCA402175845ASXL3c.1562A>G (p.Glu521Gly)
c.1559A>G (p.Glu520Gly)
c.*683A>G (n.*683A>G)
c.*1218A>G (n.*1218A>G)
c.1771A>G (n.1771A>G)
c.1391A>G (p.Glu464Gly)
c.1439A>G (p.Glu480Gly)
c.1535A>G (p.Glu512Gly)
c.1481A>G (p.Glu494Gly)
c.1442A>G (p.Glu481Gly)
18g.33738963A>TCA402175846ASXL3c.1562A>T (p.Glu521Val)
c.1559A>T (p.Glu520Val)
c.*683A>T (n.*683A>T)
c.*1218A>T (n.*1218A>T)
c.1771A>T (n.1771A>T)
c.1391A>T (p.Glu464Val)
c.1439A>T (p.Glu480Val)
c.1535A>T (p.Glu512Val)
c.1481A>T (p.Glu494Val)
c.1442A>T (p.Glu481Val)
18g.33738964A>CCA402175847ASXL3c.1563A>C (p.Glu521Asp)
c.1560A>C (p.Glu520Asp)
c.*684A>C (n.*684A>C)
c.*1219A>C (n.*1219A>C)
c.1772A>C (n.1772A>C)
c.1392A>C (p.Glu464Asp)
c.1440A>C (p.Glu480Asp)
c.1536A>C (p.Glu512Asp)
c.1482A>C (p.Glu494Asp)
c.1443A>C (p.Glu481Asp)
18g.33738964A>GCA503768492ASXL3c.1563A>G (p.Glu521=)
c.1560A>G (p.Glu520=)
c.*684A>G (n.*684A>G)
c.*1219A>G (n.*1219A>G)
c.1772A>G (n.1772A>G)
c.1392A>G (p.Glu464=)
c.1440A>G (p.Glu480=)
c.1536A>G (p.Glu512=)
c.1482A>G (p.Glu494=)
c.1443A>G (p.Glu481=)
18g.33738964A>TCA402175848ASXL3c.1563A>T (p.Glu521Asp)
c.1560A>T (p.Glu520Asp)
c.*684A>T (n.*684A>T)
c.*1219A>T (n.*1219A>T)
c.1772A>T (n.1772A>T)
c.1392A>T (p.Glu464Asp)
c.1440A>T (p.Glu480Asp)
c.1536A>T (p.Glu512Asp)
c.1482A>T (p.Glu494Asp)
c.1443A>T (p.Glu481Asp)
18g.33738965G>ACA402175849ASXL3c.1564G>A (p.Gly522Arg)
c.1561G>A (p.Gly521Arg)
c.*685G>A (n.*685G>A)
c.*1220G>A (n.*1220G>A)
c.1773G>A (n.1773G>A)
c.1393G>A (p.Gly465Arg)
c.1441G>A (p.Gly481Arg)
c.1537G>A (p.Gly513Arg)
c.1483G>A (p.Gly495Arg)
c.1444G>A (p.Gly482Arg)
dbSNP gnomAD v3 gnomAD v4
18g.33738965G>CCA402175850ASXL3c.1564G>C (p.Gly522Arg)
c.1561G>C (p.Gly521Arg)
c.*685G>C (n.*685G>C)
c.*1220G>C (n.*1220G>C)
c.1773G>C (n.1773G>C)
c.1393G>C (p.Gly465Arg)
c.1441G>C (p.Gly481Arg)
c.1537G>C (p.Gly513Arg)
c.1483G>C (p.Gly495Arg)
c.1444G>C (p.Gly482Arg)
18g.33738965G=CA2294855758ASXL3c.1564G= (p.Gly522=)
c.1561G= (p.Gly521=)
c.*685G= (n.*685G=)
c.*1220G= (n.*1220G=)
c.1773G= (n.1773G=)
c.1393G= (p.Gly465=)
c.1441G= (p.Gly481=)
c.1537G= (p.Gly513=)
c.1483G= (p.Gly495=)
c.1444G= (p.Gly482=)
18g.33738965G>TCA402175851ASXL3c.1564G>T (p.Gly522Trp)
c.1561G>T (p.Gly521Trp)
c.*685G>T (n.*685G>T)
c.*1220G>T (n.*1220G>T)
c.1773G>T (n.1773G>T)
c.1393G>T (p.Gly465Trp)
c.1441G>T (p.Gly481Trp)
c.1537G>T (p.Gly513Trp)
c.1483G>T (p.Gly495Trp)
c.1444G>T (p.Gly482Trp)
18g.33738966G>ACA402175853ASXL3c.1565G>A (p.Gly522Glu)
c.1562G>A (p.Gly521Glu)
c.*686G>A (n.*686G>A)
c.*1221G>A (n.*1221G>A)
c.1774G>A (n.1774G>A)
c.1394G>A (p.Gly465Glu)
c.1442G>A (p.Gly481Glu)
c.1538G>A (p.Gly513Glu)
c.1484G>A (p.Gly495Glu)
c.1445G>A (p.Gly482Glu)
dbSNP gnomAD v3 gnomAD v4
18g.33738966G>CCA402175854ASXL3c.1565G>C (p.Gly522Ala)
c.1562G>C (p.Gly521Ala)
c.*686G>C (n.*686G>C)
c.*1221G>C (n.*1221G>C)
c.1774G>C (n.1774G>C)
c.1394G>C (p.Gly465Ala)
c.1442G>C (p.Gly481Ala)
c.1538G>C (p.Gly513Ala)
c.1484G>C (p.Gly495Ala)
c.1445G>C (p.Gly482Ala)
gnomAD v4
18g.33738966G>TCA402175852ASXL3c.1565G>T (p.Gly522Val)
c.1562G>T (p.Gly521Val)
c.*686G>T (n.*686G>T)
c.*1221G>T (n.*1221G>T)
c.1774G>T (n.1774G>T)
c.1394G>T (p.Gly465Val)
c.1442G>T (p.Gly481Val)
c.1538G>T (p.Gly513Val)
c.1484G>T (p.Gly495Val)
c.1445G>T (p.Gly482Val)
18g.33738967G>ACA297786776ASXL3c.1566G>A (p.Gly522=)
c.1563G>A (p.Gly521=)
c.*687G>A (n.*687G>A)
c.*1222G>A (n.*1222G>A)
c.1775G>A (n.1775G>A)
c.1395G>A (p.Gly465=)
c.1443G>A (p.Gly481=)
c.1539G>A (p.Gly513=)
c.1485G>A (p.Gly495=)
c.1446G>A (p.Gly482=)
dbSNP
18g.33738967G>CCA503768616ASXL3c.1566G>C (p.Gly522=)
c.1563G>C (p.Gly521=)
c.*687G>C (n.*687G>C)
c.*1222G>C (n.*1222G>C)
c.1775G>C (n.1775G>C)
c.1395G>C (p.Gly465=)
c.1443G>C (p.Gly481=)
c.1539G>C (p.Gly513=)
c.1485G>C (p.Gly495=)
c.1446G>C (p.Gly482=)
18g.33738967G=CA2294855759ASXL3c.1566G= (p.Gly522=)
c.1563G= (p.Gly521=)
c.*687G= (n.*687G=)
c.*1222G= (n.*1222G=)
c.1775G= (n.1775G=)
c.1395G= (p.Gly465=)
c.1443G= (p.Gly481=)
c.1539G= (p.Gly513=)
c.1485G= (p.Gly495=)
c.1446G= (p.Gly482=)
18g.33738967G>TCA503768615ASXL3c.1566G>T (p.Gly522=)
c.1563G>T (p.Gly521=)
c.*687G>T (n.*687G>T)
c.*1222G>T (n.*1222G>T)
c.1775G>T (n.1775G>T)
c.1395G>T (p.Gly465=)
c.1443G>T (p.Gly481=)
c.1539G>T (p.Gly513=)
c.1485G>T (p.Gly495=)
c.1446G>T (p.Gly482=)
18g.33738968A>CCA402175855ASXL3c.1567A>C (p.Lys523Gln)
c.1564A>C (p.Lys522Gln)
c.*688A>C (n.*688A>C)
c.*1223A>C (n.*1223A>C)
c.1776A>C (n.1776A>C)
c.1396A>C (p.Lys466Gln)
c.1444A>C (p.Lys482Gln)
c.1540A>C (p.Lys514Gln)
c.1486A>C (p.Lys496Gln)
c.1447A>C (p.Lys483Gln)
18g.33738968A>GCA402175856ASXL3c.1567A>G (p.Lys523Glu)
c.1564A>G (p.Lys522Glu)
c.*688A>G (n.*688A>G)
c.*1223A>G (n.*1223A>G)
c.1776A>G (n.1776A>G)
c.1396A>G (p.Lys466Glu)
c.1444A>G (p.Lys482Glu)
c.1540A>G (p.Lys514Glu)
c.1486A>G (p.Lys496Glu)
c.1447A>G (p.Lys483Glu)
18g.33738968A>TCA402175857ASXL3c.1567A>T (p.Lys523Ter)
c.1564A>T (p.Lys522Ter)
c.*688A>T (n.*688A>T)
c.*1223A>T (n.*1223A>T)
c.1776A>T (n.1776A>T)
c.1396A>T (p.Lys466Ter)
c.1444A>T (p.Lys482Ter)
c.1540A>T (p.Lys514Ter)
c.1486A>T (p.Lys496Ter)
c.1447A>T (p.Lys483Ter)
18g.33738969A>CCA402175858ASXL3c.1568A>C (p.Lys523Thr)
c.1565A>C (p.Lys522Thr)
c.*689A>C (n.*689A>C)
c.*1224A>C (n.*1224A>C)
c.1777A>C (n.1777A>C)
c.1397A>C (p.Lys466Thr)
c.1445A>C (p.Lys482Thr)
c.1541A>C (p.Lys514Thr)
c.1487A>C (p.Lys496Thr)
c.1448A>C (p.Lys483Thr)
COSMIC COSMIC
18g.33738969A>GCA402175859ASXL3c.1568A>G (p.Lys523Arg)
c.1565A>G (p.Lys522Arg)
c.*689A>G (n.*689A>G)
c.*1224A>G (n.*1224A>G)
c.1777A>G (n.1777A>G)
c.1397A>G (p.Lys466Arg)
c.1445A>G (p.Lys482Arg)
c.1541A>G (p.Lys514Arg)
c.1487A>G (p.Lys496Arg)
c.1448A>G (p.Lys483Arg)
gnomAD v4
18g.33738969A>TCA402175860ASXL3c.1568A>T (p.Lys523Met)
c.1565A>T (p.Lys522Met)
c.*689A>T (n.*689A>T)
c.*1224A>T (n.*1224A>T)
c.1777A>T (n.1777A>T)
c.1397A>T (p.Lys466Met)
c.1445A>T (p.Lys482Met)
c.1541A>T (p.Lys514Met)
c.1487A>T (p.Lys496Met)
c.1448A>T (p.Lys483Met)
18g.33738970G>ACA503768618ASXL3c.1569G>A (p.Lys523=)
c.1566G>A (p.Lys522=)
c.*690G>A (n.*690G>A)
c.*1225G>A (n.*1225G>A)
c.1778G>A (n.1778G>A)
c.1398G>A (p.Lys466=)
c.1446G>A (p.Lys482=)
c.1542G>A (p.Lys514=)
c.1488G>A (p.Lys496=)
c.1449G>A (p.Lys483=)
gnomAD v4
18g.33738970G>CCA402175862ASXL3c.1569G>C (p.Lys523Asn)
c.1566G>C (p.Lys522Asn)
c.*690G>C (n.*690G>C)
c.*1225G>C (n.*1225G>C)
c.1778G>C (n.1778G>C)
c.1398G>C (p.Lys466Asn)
c.1446G>C (p.Lys482Asn)
c.1542G>C (p.Lys514Asn)
c.1488G>C (p.Lys496Asn)
c.1449G>C (p.Lys483Asn)
18g.33738970G=CA2294855760ASXL3c.1569G= (p.Lys523=)
c.1566G= (p.Lys522=)
c.*690G= (n.*690G=)
c.*1225G= (n.*1225G=)
c.1778G= (n.1778G=)
c.1398G= (p.Lys466=)
c.1446G= (p.Lys482=)
c.1542G= (p.Lys514=)
c.1488G= (p.Lys496=)
c.1449G= (p.Lys483=)
18g.33738970G>TCA402175861ASXL3c.1569G>T (p.Lys523Asn)
c.1566G>T (p.Lys522Asn)
c.*690G>T (n.*690G>T)
c.*1225G>T (n.*1225G>T)
c.1778G>T (n.1778G>T)
c.1398G>T (p.Lys466Asn)
c.1446G>T (p.Lys482Asn)
c.1542G>T (p.Lys514Asn)
c.1488G>T (p.Lys496Asn)
c.1449G>T (p.Lys483Asn)
dbSNP
18g.33738971T>ACA402175863ASXL3c.1570T>A (p.Ser524Thr)
c.1567T>A (p.Ser523Thr)
c.*691T>A (n.*691T>A)
c.*1226T>A (n.*1226T>A)
c.1779T>A (n.1779T>A)
c.1399T>A (p.Ser467Thr)
c.1447T>A (p.Ser483Thr)
c.1543T>A (p.Ser515Thr)
c.1489T>A (p.Ser497Thr)
c.1450T>A (p.Ser484Thr)
18g.33738971T>CCA402175864ASXL3c.1570T>C (p.Ser524Pro)
c.1567T>C (p.Ser523Pro)
c.*691T>C (n.*691T>C)
c.*1226T>C (n.*1226T>C)
c.1779T>C (n.1779T>C)
c.1399T>C (p.Ser467Pro)
c.1447T>C (p.Ser483Pro)
c.1543T>C (p.Ser515Pro)
c.1489T>C (p.Ser497Pro)
c.1450T>C (p.Ser484Pro)
18g.33738971T>GCA402175865ASXL3c.1570T>G (p.Ser524Ala)
c.1567T>G (p.Ser523Ala)
c.*691T>G (n.*691T>G)
c.*1226T>G (n.*1226T>G)
c.1779T>G (n.1779T>G)
c.1399T>G (p.Ser467Ala)
c.1447T>G (p.Ser483Ala)
c.1543T>G (p.Ser515Ala)
c.1489T>G (p.Ser497Ala)
c.1450T>G (p.Ser484Ala)
18g.33738972C>ACA402175866ASXL3c.1571C>A (p.Ser524Ter)
c.1568C>A (p.Ser523Ter)
c.*692C>A (n.*692C>A)
c.*1227C>A (n.*1227C>A)
c.1780C>A (n.1780C>A)
c.1400C>A (p.Ser467Ter)
c.1448C>A (p.Ser483Ter)
c.1544C>A (p.Ser515Ter)
c.1490C>A (p.Ser497Ter)
c.1451C>A (p.Ser484Ter)
18g.33738972C=CA2294855761ASXL3c.1571C= (p.Ser524=)
c.1568C= (p.Ser523=)
c.*692C= (n.*692C=)
c.*1227C= (n.*1227C=)
c.1780C= (n.1780C=)
c.1400C= (p.Ser467=)
c.1448C= (p.Ser483=)
c.1544C= (p.Ser515=)
c.1490C= (p.Ser497=)
c.1451C= (p.Ser484=)
18g.33738972C>GCA402175867ASXL3c.1571C>G (p.Ser524Ter)
c.1568C>G (p.Ser523Ter)
c.*692C>G (n.*692C>G)
c.*1227C>G (n.*1227C>G)
c.1780C>G (n.1780C>G)
c.1400C>G (p.Ser467Ter)
c.1448C>G (p.Ser483Ter)
c.1544C>G (p.Ser515Ter)
c.1490C>G (p.Ser497Ter)
c.1451C>G (p.Ser484Ter)
18g.33738972C>TCA402175868ASXL3c.1571C>T (p.Ser524Leu)
c.1568C>T (p.Ser523Leu)
c.*692C>T (n.*692C>T)
c.*1227C>T (n.*1227C>T)
c.1780C>T (n.1780C>T)
c.1400C>T (p.Ser467Leu)
c.1448C>T (p.Ser483Leu)
c.1544C>T (p.Ser515Leu)
c.1490C>T (p.Ser497Leu)
c.1451C>T (p.Ser484Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
18g.33738973A>CCA503768619ASXL3c.1572A>C (p.Ser524=)
c.1569A>C (p.Ser523=)
c.*693A>C (n.*693A>C)
c.*1228A>C (n.*1228A>C)
c.1781A>C (n.1781A>C)
c.1401A>C (p.Ser467=)
c.1449A>C (p.Ser483=)
c.1545A>C (p.Ser515=)
c.1491A>C (p.Ser497=)
c.1452A>C (p.Ser484=)
18g.33738973A>GCA503768620ASXL3c.1572A>G (p.Ser524=)
c.1569A>G (p.Ser523=)
c.*693A>G (n.*693A>G)
c.*1228A>G (n.*1228A>G)
c.1781A>G (n.1781A>G)
c.1401A>G (p.Ser467=)
c.1449A>G (p.Ser483=)
c.1545A>G (p.Ser515=)
c.1491A>G (p.Ser497=)
c.1452A>G (p.Ser484=)
COSMIC COSMIC
18g.33738973A>TCA503768621ASXL3c.1572A>T (p.Ser524=)
c.1569A>T (p.Ser523=)
c.*693A>T (n.*693A>T)
c.*1228A>T (n.*1228A>T)
c.1781A>T (n.1781A>T)
c.1401A>T (p.Ser467=)
c.1449A>T (p.Ser483=)
c.1545A>T (p.Ser515=)
c.1491A>T (p.Ser497=)
c.1452A>T (p.Ser484=)
18g.33738974G>ACA402175870ASXL3c.1573G>A (p.Glu525Lys)
c.1570G>A (p.Glu524Lys)
c.*694G>A (n.*694G>A)
c.*1229G>A (n.*1229G>A)
c.1782G>A (n.1782G>A)
c.1402G>A (p.Glu468Lys)
c.1450G>A (p.Glu484Lys)
c.1546G>A (p.Glu516Lys)
c.1492G>A (p.Glu498Lys)
c.1453G>A (p.Glu485Lys)
COSMIC COSMIC
18g.33738974G>CCA8933771ASXL3c.1573G>C (p.Glu525Gln)
c.1570G>C (p.Glu524Gln)
c.*694G>C (n.*694G>C)
c.*1229G>C (n.*1229G>C)
c.1782G>C (n.1782G>C)
c.1402G>C (p.Glu468Gln)
c.1450G>C (p.Glu484Gln)
c.1546G>C (p.Glu516Gln)
c.1492G>C (p.Glu498Gln)
c.1453G>C (p.Glu485Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33738974G=CA2294855762ASXL3c.1573G= (p.Glu525=)
c.1570G= (p.Glu524=)
c.*694G= (n.*694G=)
c.*1229G= (n.*1229G=)
c.1782G= (n.1782G=)
c.1402G= (p.Glu468=)
c.1450G= (p.Glu484=)
c.1546G= (p.Glu516=)
c.1492G= (p.Glu498=)
c.1453G= (p.Glu485=)
18g.33738974G>TCA402175869ASXL3c.1573G>T (p.Glu525Ter)
c.1570G>T (p.Glu524Ter)
c.*694G>T (n.*694G>T)
c.*1229G>T (n.*1229G>T)
c.1782G>T (n.1782G>T)
c.1402G>T (p.Glu468Ter)
c.1450G>T (p.Glu484Ter)
c.1546G>T (p.Glu516Ter)
c.1492G>T (p.Glu498Ter)
c.1453G>T (p.Glu485Ter)
18g.33738975A>CCA402175871ASXL3c.1574A>C (p.Glu525Ala)
c.1571A>C (p.Glu524Ala)
c.*695A>C (n.*695A>C)
c.*1230A>C (n.*1230A>C)
c.1783A>C (n.1783A>C)
c.1403A>C (p.Glu468Ala)
c.1451A>C (p.Glu484Ala)
c.1547A>C (p.Glu516Ala)
c.1493A>C (p.Glu498Ala)
c.1454A>C (p.Glu485Ala)
gnomAD v4
18g.33738975A>GCA402175872ASXL3c.1574A>G (p.Glu525Gly)
c.1571A>G (p.Glu524Gly)
c.*695A>G (n.*695A>G)
c.*1230A>G (n.*1230A>G)
c.1783A>G (n.1783A>G)
c.1403A>G (p.Glu468Gly)
c.1451A>G (p.Glu484Gly)
c.1547A>G (p.Glu516Gly)
c.1493A>G (p.Glu498Gly)
c.1454A>G (p.Glu485Gly)
18g.33738975A>TCA402175873ASXL3c.1574A>T (p.Glu525Val)
c.1571A>T (p.Glu524Val)
c.*695A>T (n.*695A>T)
c.*1230A>T (n.*1230A>T)
c.1783A>T (n.1783A>T)
c.1403A>T (p.Glu468Val)
c.1451A>T (p.Glu484Val)
c.1547A>T (p.Glu516Val)
c.1493A>T (p.Glu498Val)
c.1454A>T (p.Glu485Val)
18g.33738976A>CCA402175874ASXL3c.1575A>C (p.Glu525Asp)
c.1572A>C (p.Glu524Asp)
c.*696A>C (n.*696A>C)
c.*1231A>C (n.*1231A>C)
c.1784A>C (n.1784A>C)
c.1404A>C (p.Glu468Asp)
c.1452A>C (p.Glu484Asp)
c.1548A>C (p.Glu516Asp)
c.1494A>C (p.Glu498Asp)
c.1455A>C (p.Glu485Asp)
18g.33738976A>GCA503768624ASXL3c.1575A>G (p.Glu525=)
c.1572A>G (p.Glu524=)
c.*696A>G (n.*696A>G)
c.*1231A>G (n.*1231A>G)
c.1784A>G (n.1784A>G)
c.1404A>G (p.Glu468=)
c.1452A>G (p.Glu484=)
c.1548A>G (p.Glu516=)
c.1494A>G (p.Glu498=)
c.1455A>G (p.Glu485=)
18g.33738976A>TCA402175875ASXL3c.1575A>T (p.Glu525Asp)
c.1572A>T (p.Glu524Asp)
c.*696A>T (n.*696A>T)
c.*1231A>T (n.*1231A>T)
c.1784A>T (n.1784A>T)
c.1404A>T (p.Glu468Asp)
c.1452A>T (p.Glu484Asp)
c.1548A>T (p.Glu516Asp)
c.1494A>T (p.Glu498Asp)
c.1455A>T (p.Glu485Asp)
18g.33738977T>ACA402175878ASXL3c.1576T>A (p.Ser526Thr)
c.1573T>A (p.Ser525Thr)
c.*697T>A (n.*697T>A)
c.*1232T>A (n.*1232T>A)
c.1785T>A (n.1785T>A)
c.1405T>A (p.Ser469Thr)
c.1453T>A (p.Ser485Thr)
c.1549T>A (p.Ser517Thr)
c.1495T>A (p.Ser499Thr)
c.1456T>A (p.Ser486Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33738977T>CCA402175877ASXL3c.1576T>C (p.Ser526Pro)
c.1573T>C (p.Ser525Pro)
c.*697T>C (n.*697T>C)
c.*1232T>C (n.*1232T>C)
c.1785T>C (n.1785T>C)
c.1405T>C (p.Ser469Pro)
c.1453T>C (p.Ser485Pro)
c.1549T>C (p.Ser517Pro)
c.1495T>C (p.Ser499Pro)
c.1456T>C (p.Ser486Pro)
18g.33738977T>GCA402175876ASXL3c.1576T>G (p.Ser526Ala)
c.1573T>G (p.Ser525Ala)
c.*697T>G (n.*697T>G)
c.*1232T>G (n.*1232T>G)
c.1785T>G (n.1785T>G)
c.1405T>G (p.Ser469Ala)
c.1453T>G (p.Ser485Ala)
c.1549T>G (p.Ser517Ala)
c.1495T>G (p.Ser499Ala)
c.1456T>G (p.Ser486Ala)
18g.33738977T=CA2294855763ASXL3c.1576T= (p.Ser526=)
c.1573T= (p.Ser525=)
c.*697T= (n.*697T=)
c.*1232T= (n.*1232T=)
c.1785T= (n.1785T=)
c.1405T= (p.Ser469=)
c.1453T= (p.Ser485=)
c.1549T= (p.Ser517=)
c.1495T= (p.Ser499=)
c.1456T= (p.Ser486=)
18g.33738978C>ACA402175879ASXL3c.1577C>A (p.Ser526Ter)
c.1574C>A (p.Ser525Ter)
c.*698C>A (n.*698C>A)
c.*1233C>A (n.*1233C>A)
c.1786C>A (n.1786C>A)
c.1406C>A (p.Ser469Ter)
c.1454C>A (p.Ser485Ter)
c.1550C>A (p.Ser517Ter)
c.1496C>A (p.Ser499Ter)
c.1457C>A (p.Ser486Ter)
18g.33738978C>GCA402175880ASXL3c.1577C>G (p.Ser526Ter)
c.1574C>G (p.Ser525Ter)
c.*698C>G (n.*698C>G)
c.*1233C>G (n.*1233C>G)
c.1786C>G (n.1786C>G)
c.1406C>G (p.Ser469Ter)
c.1454C>G (p.Ser485Ter)
c.1550C>G (p.Ser517Ter)
c.1496C>G (p.Ser499Ter)
c.1457C>G (p.Ser486Ter)
18g.33738978C>TCA402175881ASXL3c.1577C>T (p.Ser526Leu)
c.1574C>T (p.Ser525Leu)
c.*698C>T (n.*698C>T)
c.*1233C>T (n.*1233C>T)
c.1786C>T (n.1786C>T)
c.1406C>T (p.Ser469Leu)
c.1454C>T (p.Ser485Leu)
c.1550C>T (p.Ser517Leu)
c.1496C>T (p.Ser499Leu)
c.1457C>T (p.Ser486Leu)
COSMIC COSMIC
18g.33738979A>CCA503768634ASXL3c.1578A>C (p.Ser526=)
c.1575A>C (p.Ser525=)
c.*699A>C (n.*699A>C)
c.*1234A>C (n.*1234A>C)
c.1787A>C (n.1787A>C)
c.1407A>C (p.Ser469=)
c.1455A>C (p.Ser485=)
c.1551A>C (p.Ser517=)
c.1497A>C (p.Ser499=)
c.1458A>C (p.Ser486=)
18g.33738979A>GCA503768635ASXL3c.1578A>G (p.Ser526=)
c.1575A>G (p.Ser525=)
c.*699A>G (n.*699A>G)
c.*1234A>G (n.*1234A>G)
c.1787A>G (n.1787A>G)
c.1407A>G (p.Ser469=)
c.1455A>G (p.Ser485=)
c.1551A>G (p.Ser517=)
c.1497A>G (p.Ser499=)
c.1458A>G (p.Ser486=)
18g.33738979A>TCA503768636ASXL3c.1578A>T (p.Ser526=)
c.1575A>T (p.Ser525=)
c.*699A>T (n.*699A>T)
c.*1234A>T (n.*1234A>T)
c.1787A>T (n.1787A>T)
c.1407A>T (p.Ser469=)
c.1455A>T (p.Ser485=)
c.1551A>T (p.Ser517=)
c.1497A>T (p.Ser499=)
c.1458A>T (p.Ser486=)
18g.33738979_33738980delinsACCA2294855764ASXL3c.1578_1579delinsAC (p.Ser526=)
c.1575_1576delinsAC (p.Ser525=)
c.*699_*700delinsAC (n.*699_*700delinsAC)
c.*1234_*1235delinsAC (n.*1234_*1235delinsAC)
c.1787_1788delinsAC (n.1787_1788delinsAC)
c.1407_1408delinsAC (p.Ser469=)
c.1455_1456delinsAC (p.Ser485=)
c.1551_1552delinsAC (p.Ser517=)
c.1497_1498delinsAC (p.Ser499=)
c.1458_1459delinsAC (p.Ser486=)
18g.33738980C>ACA8933772ASXL3c.1579C>A (p.Pro527Thr)
c.1576C>A (p.Pro526Thr)
c.*700C>A (n.*700C>A)
c.*1235C>A (n.*1235C>A)
c.1788C>A (n.1788C>A)
c.1408C>A (p.Pro470Thr)
c.1456C>A (p.Pro486Thr)
c.1552C>A (p.Pro518Thr)
c.1498C>A (p.Pro500Thr)
c.1459C>A (p.Pro487Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33738980C=CA2294855765ASXL3c.1579C= (p.Pro527=)
c.1576C= (p.Pro526=)
c.*700C= (n.*700C=)
c.*1235C= (n.*1235C=)
c.1788C= (n.1788C=)
c.1408C= (p.Pro470=)
c.1456C= (p.Pro486=)
c.1552C= (p.Pro518=)
c.1498C= (p.Pro500=)
c.1459C= (p.Pro487=)
18g.33738980C>GCA402175882ASXL3c.1579C>G (p.Pro527Ala)
c.1576C>G (p.Pro526Ala)
c.*700C>G (n.*700C>G)
c.*1235C>G (n.*1235C>G)
c.1788C>G (n.1788C>G)
c.1408C>G (p.Pro470Ala)
c.1456C>G (p.Pro486Ala)
c.1552C>G (p.Pro518Ala)
c.1498C>G (p.Pro500Ala)
c.1459C>G (p.Pro487Ala)
18g.33738980C>TCA402175883ASXL3c.1579C>T (p.Pro527Ser)
c.1576C>T (p.Pro526Ser)
c.*700C>T (n.*700C>T)
c.*1235C>T (n.*1235C>T)
c.1788C>T (n.1788C>T)
c.1408C>T (p.Pro470Ser)
c.1456C>T (p.Pro486Ser)
c.1552C>T (p.Pro518Ser)
c.1498C>T (p.Pro500Ser)
c.1459C>T (p.Pro487Ser)
18g.33738983dupCA1139666020ASXL3c.1582dup (p.Gln528ProfsTer15)
c.1579dup (p.Gln527ProfsTer15)
c.*703dup (n.*703dup)
c.*1238dup (n.*1238dup)
c.1791dup (n.1791dup)
c.1411dup (p.Gln471ProfsTer15)
c.1459dup (p.Gln487ProfsTer15)
c.1555dup (p.Gln519ProfsTer15)
c.1501dup (p.Gln501ProfsTer15)
c.1462dup (p.Gln488ProfsTer15)
ClinVar dbSNP
18g.33738983delCA915951349ASXL3c.1582del (p.Gln528ArgfsTer4)
c.1579del (p.Gln527ArgfsTer4)
c.*703del (n.*703del)
c.*1238del (n.*1238del)
c.1791del (n.1791del)
c.1411del (p.Gln471ArgfsTer4)
c.1459del (p.Gln487ArgfsTer4)
c.1555del (p.Gln519ArgfsTer4)
c.1501del (p.Gln501ArgfsTer4)
c.1462del (p.Gln488ArgfsTer4)
ClinVar dbSNP
18g.33738981C>ACA402175884ASXL3c.1580C>A (p.Pro527His)
c.1577C>A (p.Pro526His)
c.*701C>A (n.*701C>A)
c.*1236C>A (n.*1236C>A)
c.1789C>A (n.1789C>A)
c.1409C>A (p.Pro470His)
c.1457C>A (p.Pro486His)
c.1553C>A (p.Pro518His)
c.1499C>A (p.Pro500His)
c.1460C>A (p.Pro487His)
18g.33738981C=CA2294855766ASXL3c.1580C= (p.Pro527=)
c.1577C= (p.Pro526=)
c.*701C= (n.*701C=)
c.*1236C= (n.*1236C=)
c.1789C= (n.1789C=)
c.1409C= (p.Pro470=)
c.1457C= (p.Pro486=)
c.1553C= (p.Pro518=)
c.1499C= (p.Pro500=)
c.1460C= (p.Pro487=)
18g.33738981C>GCA402175885ASXL3c.1580C>G (p.Pro527Arg)
c.1577C>G (p.Pro526Arg)
c.*701C>G (n.*701C>G)
c.*1236C>G (n.*1236C>G)
c.1789C>G (n.1789C>G)
c.1409C>G (p.Pro470Arg)
c.1457C>G (p.Pro486Arg)
c.1553C>G (p.Pro518Arg)
c.1499C>G (p.Pro500Arg)
c.1460C>G (p.Pro487Arg)
18g.33738981C>TCA8933773ASXL3c.1580C>T (p.Pro527Leu)
c.1577C>T (p.Pro526Leu)
c.*701C>T (n.*701C>T)
c.*1236C>T (n.*1236C>T)
c.1789C>T (n.1789C>T)
c.1409C>T (p.Pro470Leu)
c.1457C>T (p.Pro486Leu)
c.1553C>T (p.Pro518Leu)
c.1499C>T (p.Pro500Leu)
c.1460C>T (p.Pro487Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33738982C>ACA503768640ASXL3c.1581C>A (p.Pro527=)
c.1578C>A (p.Pro526=)
c.*702C>A (n.*702C>A)
c.*1237C>A (n.*1237C>A)
c.1790C>A (n.1790C>A)
c.1410C>A (p.Pro470=)
c.1458C>A (p.Pro486=)
c.1554C>A (p.Pro518=)
c.1500C>A (p.Pro500=)
c.1461C>A (p.Pro487=)
18g.33738982C=CA2294855767ASXL3c.1581C= (p.Pro527=)
c.1578C= (p.Pro526=)
c.*702C= (n.*702C=)
c.*1237C= (n.*1237C=)
c.1790C= (n.1790C=)
c.1410C= (p.Pro470=)
c.1458C= (p.Pro486=)
c.1554C= (p.Pro518=)
c.1500C= (p.Pro500=)
c.1461C= (p.Pro487=)
18g.33738982C>GCA503768641ASXL3c.1581C>G (p.Pro527=)
c.1578C>G (p.Pro526=)
c.*702C>G (n.*702C>G)
c.*1237C>G (n.*1237C>G)
c.1790C>G (n.1790C>G)
c.1410C>G (p.Pro470=)
c.1458C>G (p.Pro486=)
c.1554C>G (p.Pro518=)
c.1500C>G (p.Pro500=)
c.1461C>G (p.Pro487=)
dbSNP gnomAD v3 gnomAD v4
18g.33738982C>TCA503768643ASXL3c.1581C>T (p.Pro527=)
c.1578C>T (p.Pro526=)
c.*702C>T (n.*702C>T)
c.*1237C>T (n.*1237C>T)
c.1790C>T (n.1790C>T)
c.1410C>T (p.Pro470=)
c.1458C>T (p.Pro486=)
c.1554C>T (p.Pro518=)
c.1500C>T (p.Pro500=)
c.1461C>T (p.Pro487=)
18g.33738983C>ACA402175886ASXL3c.1582C>A (p.Gln528Lys)
c.1579C>A (p.Gln527Lys)
c.*703C>A (n.*703C>A)
c.*1238C>A (n.*1238C>A)
c.1791C>A (n.1791C>A)
c.1411C>A (p.Gln471Lys)
c.1459C>A (p.Gln487Lys)
c.1555C>A (p.Gln519Lys)
c.1501C>A (p.Gln501Lys)
c.1462C>A (p.Gln488Lys)
18g.33738983C>GCA402175887ASXL3c.1582C>G (p.Gln528Glu)
c.1579C>G (p.Gln527Glu)
c.*703C>G (n.*703C>G)
c.*1238C>G (n.*1238C>G)
c.1791C>G (n.1791C>G)
c.1411C>G (p.Gln471Glu)
c.1459C>G (p.Gln487Glu)
c.1555C>G (p.Gln519Glu)
c.1501C>G (p.Gln501Glu)
c.1462C>G (p.Gln488Glu)
18g.33738983C>TCA402175888ASXL3c.1582C>T (p.Gln528Ter)
c.1579C>T (p.Gln527Ter)
c.*703C>T (n.*703C>T)
c.*1238C>T (n.*1238C>T)
c.1791C>T (n.1791C>T)
c.1411C>T (p.Gln471Ter)
c.1459C>T (p.Gln487Ter)
c.1555C>T (p.Gln519Ter)
c.1501C>T (p.Gln501Ter)
c.1462C>T (p.Gln488Ter)
ClinVar
18g.33738984A=CA2294855768ASXL3c.1583A= (p.Gln528=)
c.1580A= (p.Gln527=)
c.*704A= (n.*704A=)
c.*1239A= (n.*1239A=)
c.1792A= (n.1792A=)
c.1412A= (p.Gln471=)
c.1460A= (p.Gln487=)
c.1556A= (p.Gln519=)
c.1502A= (p.Gln501=)
c.1463A= (p.Gln488=)
18g.33738984A>CCA402175889ASXL3c.1583A>C (p.Gln528Pro)
c.1580A>C (p.Gln527Pro)
c.*704A>C (n.*704A>C)
c.*1239A>C (n.*1239A>C)
c.1792A>C (n.1792A>C)
c.1412A>C (p.Gln471Pro)
c.1460A>C (p.Gln487Pro)
c.1556A>C (p.Gln519Pro)
c.1502A>C (p.Gln501Pro)
c.1463A>C (p.Gln488Pro)
18g.33738984A>GCA402175890ASXL3c.1583A>G (p.Gln528Arg)
c.1580A>G (p.Gln527Arg)
c.*704A>G (n.*704A>G)
c.*1239A>G (n.*1239A>G)
c.1792A>G (n.1792A>G)
c.1412A>G (p.Gln471Arg)
c.1460A>G (p.Gln487Arg)
c.1556A>G (p.Gln519Arg)
c.1502A>G (p.Gln501Arg)
c.1463A>G (p.Gln488Arg)
dbSNP gnomAD v2 gnomAD v4
18g.33738984A>TCA402175891ASXL3c.1583A>T (p.Gln528Leu)
c.1580A>T (p.Gln527Leu)
c.*704A>T (n.*704A>T)
c.*1239A>T (n.*1239A>T)
c.1792A>T (n.1792A>T)
c.1412A>T (p.Gln471Leu)
c.1460A>T (p.Gln487Leu)
c.1556A>T (p.Gln519Leu)
c.1502A>T (p.Gln501Leu)
c.1463A>T (p.Gln488Leu)
gnomAD v4
18g.33738984_33738985delinsAGCA2294855769ASXL3c.1583_1584delinsAG (p.Gln528=)
c.1580_1581delinsAG (p.Gln527=)
c.*704_*705delinsAG (n.*704_*705delinsAG)
c.*1239_*1240delinsAG (n.*1239_*1240delinsAG)
c.1792_1793delinsAG (n.1792_1793delinsAG)
c.1412_1413delinsAG (p.Gln471=)
c.1460_1461delinsAG (p.Gln487=)
c.1556_1557delinsAG (p.Gln519=)
c.1502_1503delinsAG (p.Gln501=)
c.1463_1464delinsAG (p.Gln488=)
18g.33738985G>ACA8933774ASXL3c.1584G>A (p.Gln528=)
c.1581G>A (p.Gln527=)
c.*705G>A (n.*705G>A)
c.*1240G>A (n.*1240G>A)
c.1793G>A (n.1793G>A)
c.1413G>A (p.Gln471=)
c.1461G>A (p.Gln487=)
c.1557G>A (p.Gln519=)
c.1503G>A (p.Gln501=)
c.1464G>A (p.Gln488=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.33738985G>CCA402175892ASXL3c.1584G>C (p.Gln528His)
c.1581G>C (p.Gln527His)
c.*705G>C (n.*705G>C)
c.*1240G>C (n.*1240G>C)
c.1793G>C (n.1793G>C)
c.1413G>C (p.Gln471His)
c.1461G>C (p.Gln487His)
c.1557G>C (p.Gln519His)
c.1503G>C (p.Gln501His)
c.1464G>C (p.Gln488His)
18g.33738985G=CA2294855770ASXL3c.1584G= (p.Gln528=)
c.1581G= (p.Gln527=)
c.*705G= (n.*705G=)
c.*1240G= (n.*1240G=)
c.1793G= (n.1793G=)
c.1413G= (p.Gln471=)
c.1461G= (p.Gln487=)
c.1557G= (p.Gln519=)
c.1503G= (p.Gln501=)
c.1464G= (p.Gln488=)
18g.33738985G>TCA402175893ASXL3c.1584G>T (p.Gln528His)
c.1581G>T (p.Gln527His)
c.*705G>T (n.*705G>T)
c.*1240G>T (n.*1240G>T)
c.1793G>T (n.1793G>T)
c.1413G>T (p.Gln471His)
c.1461G>T (p.Gln487His)
c.1557G>T (p.Gln519His)
c.1503G>T (p.Gln501His)
c.1464G>T (p.Gln488His)
18g.33738986delCA1139666021ASXL3c.1585del (p.Glu529LysfsTer3)
c.1582del (p.Glu528LysfsTer3)
c.*706del (n.*706del)
c.*1241del (n.*1241del)
c.1794del (n.1794del)
c.1414del (p.Glu472LysfsTer3)
c.1462del (p.Glu488LysfsTer3)
c.1558del (p.Glu520LysfsTer3)
c.1504del (p.Glu502LysfsTer3)
c.1465del (p.Glu489LysfsTer3)
ClinVar dbSNP
18g.33738986G>ACA402175894ASXL3c.1585G>A (p.Glu529Lys)
c.1582G>A (p.Glu528Lys)
c.*706G>A (n.*706G>A)
c.*1241G>A (n.*1241G>A)
c.1794G>A (n.1794G>A)
c.1414G>A (p.Glu472Lys)
c.1462G>A (p.Glu488Lys)
c.1558G>A (p.Glu520Lys)
c.1504G>A (p.Glu502Lys)
c.1465G>A (p.Glu489Lys)
18g.33738986G>CCA402175895ASXL3c.1585G>C (p.Glu529Gln)
c.1582G>C (p.Glu528Gln)
c.*706G>C (n.*706G>C)
c.*1241G>C (n.*1241G>C)
c.1794G>C (n.1794G>C)
c.1414G>C (p.Glu472Gln)
c.1462G>C (p.Glu488Gln)
c.1558G>C (p.Glu520Gln)
c.1504G>C (p.Glu502Gln)
c.1465G>C (p.Glu489Gln)
18g.33738986G=CA2294855771ASXL3c.1585G= (p.Glu529=)
c.1582G= (p.Glu528=)
c.*706G= (n.*706G=)
c.*1241G= (n.*1241G=)
c.1794G= (n.1794G=)
c.1414G= (p.Glu472=)
c.1462G= (p.Glu488=)
c.1558G= (p.Glu520=)
c.1504G= (p.Glu502=)
c.1465G= (p.Glu489=)
18g.33738986G>TCA402175896ASXL3c.1585G>T (p.Glu529Ter)
c.1582G>T (p.Glu528Ter)
c.*706G>T (n.*706G>T)
c.*1241G>T (n.*1241G>T)
c.1794G>T (n.1794G>T)
c.1414G>T (p.Glu472Ter)
c.1462G>T (p.Glu488Ter)
c.1558G>T (p.Glu520Ter)
c.1504G>T (p.Glu502Ter)
c.1465G>T (p.Glu489Ter)
ClinVar dbSNP
18g.33738987A=CA2294855772ASXL3c.1586A= (p.Glu529=)
c.1583A= (p.Glu528=)
c.*707A= (n.*707A=)
c.*1242A= (n.*1242A=)
c.1795A= (n.1795A=)
c.1415A= (p.Glu472=)
c.1463A= (p.Glu488=)
c.1559A= (p.Glu520=)
c.1505A= (p.Glu502=)
c.1466A= (p.Glu489=)
18g.33738987A>CCA402175898ASXL3c.1586A>C (p.Glu529Ala)
c.1583A>C (p.Glu528Ala)
c.*707A>C (n.*707A>C)
c.*1242A>C (n.*1242A>C)
c.1795A>C (n.1795A>C)
c.1415A>C (p.Glu472Ala)
c.1463A>C (p.Glu488Ala)
c.1559A>C (p.Glu520Ala)
c.1505A>C (p.Glu502Ala)
c.1466A>C (p.Glu489Ala)
18g.33738987A>GCA402175899ASXL3c.1586A>G (p.Glu529Gly)
c.1583A>G (p.Glu528Gly)
c.*707A>G (n.*707A>G)
c.*1242A>G (n.*1242A>G)
c.1795A>G (n.1795A>G)
c.1415A>G (p.Glu472Gly)
c.1463A>G (p.Glu488Gly)
c.1559A>G (p.Glu520Gly)
c.1505A>G (p.Glu502Gly)
c.1466A>G (p.Glu489Gly)
dbSNP
18g.33738987A>TCA402175897ASXL3c.1586A>T (p.Glu529Val)
c.1583A>T (p.Glu528Val)
c.*707A>T (n.*707A>T)
c.*1242A>T (n.*1242A>T)
c.1795A>T (n.1795A>T)
c.1415A>T (p.Glu472Val)
c.1463A>T (p.Glu488Val)
c.1559A>T (p.Glu520Val)
c.1505A>T (p.Glu502Val)
c.1466A>T (p.Glu489Val)
18g.33738988A>CCA402175900ASXL3c.1587A>C (p.Glu529Asp)
c.1584A>C (p.Glu528Asp)
c.*708A>C (n.*708A>C)
c.*1243A>C (n.*1243A>C)
c.1796A>C (n.1796A>C)
c.1416A>C (p.Glu472Asp)
c.1464A>C (p.Glu488Asp)
c.1560A>C (p.Glu520Asp)
c.1506A>C (p.Glu502Asp)
c.1467A>C (p.Glu489Asp)
18g.33738988A>GCA503768664ASXL3c.1587A>G (p.Glu529=)
c.1584A>G (p.Glu528=)
c.*708A>G (n.*708A>G)
c.*1243A>G (n.*1243A>G)
c.1796A>G (n.1796A>G)
c.1416A>G (p.Glu472=)
c.1464A>G (p.Glu488=)
c.1560A>G (p.Glu520=)
c.1506A>G (p.Glu502=)
c.1467A>G (p.Glu489=)
gnomAD v4
18g.33738988A>TCA402175901ASXL3c.1587A>T (p.Glu529Asp)
c.1584A>T (p.Glu528Asp)
c.*708A>T (n.*708A>T)
c.*1243A>T (n.*1243A>T)
c.1796A>T (n.1796A>T)
c.1416A>T (p.Glu472Asp)
c.1464A>T (p.Glu488Asp)
c.1560A>T (p.Glu520Asp)
c.1506A>T (p.Glu502Asp)
c.1467A>T (p.Glu489Asp)
18g.33738989G>ACA402175902ASXL3c.1588G>A (p.Glu530Lys)
c.1585G>A (p.Glu529Lys)
c.*709G>A (n.*709G>A)
c.*1244G>A (n.*1244G>A)
c.1797G>A (n.1797G>A)
c.1417G>A (p.Glu473Lys)
c.1465G>A (p.Glu489Lys)
c.1561G>A (p.Glu521Lys)
c.1507G>A (p.Glu503Lys)
c.1468G>A (p.Glu490Lys)
18g.33738989G>CCA402175903ASXL3c.1588G>C (p.Glu530Gln)
c.1585G>C (p.Glu529Gln)
c.*709G>C (n.*709G>C)
c.*1244G>C (n.*1244G>C)
c.1797G>C (n.1797G>C)
c.1417G>C (p.Glu473Gln)
c.1465G>C (p.Glu489Gln)
c.1561G>C (p.Glu521Gln)
c.1507G>C (p.Glu503Gln)
c.1468G>C (p.Glu490Gln)
18g.33738989G=CA2294855773ASXL3c.1588G= (p.Glu530=)
c.1585G= (p.Glu529=)
c.*709G= (n.*709G=)
c.*1244G= (n.*1244G=)
c.1797G= (n.1797G=)
c.1417G= (p.Glu473=)
c.1465G= (p.Glu489=)
c.1561G= (p.Glu521=)
c.1507G= (p.Glu503=)
c.1468G= (p.Glu490=)
18g.33738989G>TCA402175904ASXL3c.1588G>T (p.Glu530Ter)
c.1585G>T (p.Glu529Ter)
c.*709G>T (n.*709G>T)
c.*1244G>T (n.*1244G>T)
c.1797G>T (n.1797G>T)
c.1417G>T (p.Glu473Ter)
c.1465G>T (p.Glu489Ter)
c.1561G>T (p.Glu521Ter)
c.1507G>T (p.Glu503Ter)
c.1468G>T (p.Glu490Ter)
ClinVar dbSNP COSMIC COSMIC
18g.33738990A>CCA402175907ASXL3c.1589A>C (p.Glu530Ala)
c.1586A>C (p.Glu529Ala)
c.*710A>C (n.*710A>C)
c.*1245A>C (n.*1245A>C)
c.1798A>C (n.1798A>C)
c.1418A>C (p.Glu473Ala)
c.1466A>C (p.Glu489Ala)
c.1562A>C (p.Glu521Ala)
c.1508A>C (p.Glu503Ala)
c.1469A>C (p.Glu490Ala)
18g.33738990A>GCA402175905ASXL3c.1589A>G (p.Glu530Gly)
c.1586A>G (p.Glu529Gly)
c.*710A>G (n.*710A>G)
c.*1245A>G (n.*1245A>G)
c.1798A>G (n.1798A>G)
c.1418A>G (p.Glu473Gly)
c.1466A>G (p.Glu489Gly)
c.1562A>G (p.Glu521Gly)
c.1508A>G (p.Glu503Gly)
c.1469A>G (p.Glu490Gly)
gnomAD v4
18g.33738990A>TCA402175906ASXL3c.1589A>T (p.Glu530Val)
c.1586A>T (p.Glu529Val)
c.*710A>T (n.*710A>T)
c.*1245A>T (n.*1245A>T)
c.1798A>T (n.1798A>T)
c.1418A>T (p.Glu473Val)
c.1466A>T (p.Glu489Val)
c.1562A>T (p.Glu521Val)
c.1508A>T (p.Glu503Val)
c.1469A>T (p.Glu490Val)
18g.33738991A>CCA402175908ASXL3c.1590A>C (p.Glu530Asp)
c.1587A>C (p.Glu529Asp)
c.*711A>C (n.*711A>C)
c.*1246A>C (n.*1246A>C)
c.1799A>C (n.1799A>C)
c.1419A>C (p.Glu473Asp)
c.1467A>C (p.Glu489Asp)
c.1563A>C (p.Glu521Asp)
c.1509A>C (p.Glu503Asp)
c.1470A>C (p.Glu490Asp)
18g.33738991A>GCA503768669ASXL3c.1590A>G (p.Glu530=)
c.1587A>G (p.Glu529=)
c.*711A>G (n.*711A>G)
c.*1246A>G (n.*1246A>G)
c.1799A>G (n.1799A>G)
c.1419A>G (p.Glu473=)
c.1467A>G (p.Glu489=)
c.1563A>G (p.Glu521=)
c.1509A>G (p.Glu503=)
c.1470A>G (p.Glu490=)
18g.33738991A>TCA402175909ASXL3c.1590A>T (p.Glu530Asp)
c.1587A>T (p.Glu529Asp)
c.*711A>T (n.*711A>T)
c.*1246A>T (n.*1246A>T)
c.1799A>T (n.1799A>T)
c.1419A>T (p.Glu473Asp)
c.1467A>T (p.Glu489Asp)
c.1563A>T (p.Glu521Asp)
c.1509A>T (p.Glu503Asp)
c.1470A>T (p.Glu490Asp)
18g.33738992A>CCA402175910ASXL3c.1591A>C (p.Met531Leu)
c.1588A>C (p.Met530Leu)
c.*712A>C (n.*712A>C)
c.*1247A>C (n.*1247A>C)
c.1800A>C (n.1800A>C)
c.1420A>C (p.Met474Leu)
c.1468A>C (p.Met490Leu)
c.1564A>C (p.Met522Leu)
c.1510A>C (p.Met504Leu)
c.1471A>C (p.Met491Leu)
18g.33738992A>GCA402175911ASXL3c.1591A>G (p.Met531Val)
c.1588A>G (p.Met530Val)
c.*712A>G (n.*712A>G)
c.*1247A>G (n.*1247A>G)
c.1800A>G (n.1800A>G)
c.1420A>G (p.Met474Val)
c.1468A>G (p.Met490Val)
c.1564A>G (p.Met522Val)
c.1510A>G (p.Met504Val)
c.1471A>G (p.Met491Val)
gnomAD v4
18g.33738992A>TCA402175912ASXL3c.1591A>T (p.Met531Leu)
c.1588A>T (p.Met530Leu)
c.*712A>T (n.*712A>T)
c.*1247A>T (n.*1247A>T)
c.1800A>T (n.1800A>T)
c.1420A>T (p.Met474Leu)
c.1468A>T (p.Met490Leu)
c.1564A>T (p.Met522Leu)
c.1510A>T (p.Met504Leu)
c.1471A>T (p.Met491Leu)
18g.33738993T>ACA402175913ASXL3c.1592T>A (p.Met531Lys)
c.1589T>A (p.Met530Lys)
c.*713T>A (n.*713T>A)
c.*1248T>A (n.*1248T>A)
c.1801T>A (n.1801T>A)
c.1421T>A (p.Met474Lys)
c.1469T>A (p.Met490Lys)
c.1565T>A (p.Met522Lys)
c.1511T>A (p.Met504Lys)
c.1472T>A (p.Met491Lys)
18g.33738993T>CCA8933775ASXL3c.1592T>C (p.Met531Thr)
c.1589T>C (p.Met530Thr)
c.*713T>C (n.*713T>C)
c.*1248T>C (n.*1248T>C)
c.1801T>C (n.1801T>C)
c.1421T>C (p.Met474Thr)
c.1469T>C (p.Met490Thr)
c.1565T>C (p.Met522Thr)
c.1511T>C (p.Met504Thr)
c.1472T>C (p.Met491Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.33738993T>GCA402175914ASXL3c.1592T>G (p.Met531Arg)
c.1589T>G (p.Met530Arg)
c.*713T>G (n.*713T>G)
c.*1248T>G (n.*1248T>G)
c.1801T>G (n.1801T>G)
c.1421T>G (p.Met474Arg)
c.1469T>G (p.Met490Arg)
c.1565T>G (p.Met522Arg)
c.1511T>G (p.Met504Arg)
c.1472T>G (p.Met491Arg)
18g.33738993T=CA2294855774ASXL3c.1592T= (p.Met531=)
c.1589T= (p.Met530=)
c.*713T= (n.*713T=)
c.*1248T= (n.*1248T=)
c.1801T= (n.1801T=)
c.1421T= (p.Met474=)
c.1469T= (p.Met490=)
c.1565T= (p.Met522=)
c.1511T= (p.Met504=)
c.1472T= (p.Met491=)
18g.33738994G>ACA402175915ASXL3c.1593G>A (p.Met531Ile)
c.1590G>A (p.Met530Ile)
c.*714G>A (n.*714G>A)
c.*1249G>A (n.*1249G>A)
c.1802G>A (n.1802G>A)
c.1422G>A (p.Met474Ile)
c.1470G>A (p.Met490Ile)
c.1566G>A (p.Met522Ile)
c.1512G>A (p.Met504Ile)
c.1473G>A (p.Met491Ile)
18g.33738994G>CCA402175917ASXL3c.1593G>C (p.Met531Ile)
c.1590G>C (p.Met530Ile)
c.*714G>C (n.*714G>C)
c.*1249G>C (n.*1249G>C)
c.1802G>C (n.1802G>C)
c.1422G>C (p.Met474Ile)
c.1470G>C (p.Met490Ile)
c.1566G>C (p.Met522Ile)
c.1512G>C (p.Met504Ile)
c.1473G>C (p.Met491Ile)
18g.33738994G>TCA402175916ASXL3c.1593G>T (p.Met531Ile)
c.1590G>T (p.Met530Ile)
c.*714G>T (n.*714G>T)
c.*1249G>T (n.*1249G>T)
c.1802G>T (n.1802G>T)
c.1422G>T (p.Met474Ile)
c.1470G>T (p.Met490Ile)
c.1566G>T (p.Met522Ile)
c.1512G>T (p.Met504Ile)
c.1473G>T (p.Met491Ile)
18g.33738995A=CA2294855775ASXL3c.1594A= (p.Thr532=)
c.1591A= (p.Thr531=)
c.*715A= (n.*715A=)
c.*1250A= (n.*1250A=)
c.1803A= (n.1803A=)
c.1423A= (p.Thr475=)
c.1471A= (p.Thr491=)
c.1567A= (p.Thr523=)
c.1513A= (p.Thr505=)
c.1474A= (p.Thr492=)
18g.33738995A>CCA402175918ASXL3c.1594A>C (p.Thr532Pro)
c.1591A>C (p.Thr531Pro)
c.*715A>C (n.*715A>C)
c.*1250A>C (n.*1250A>C)
c.1803A>C (n.1803A>C)
c.1423A>C (p.Thr475Pro)
c.1471A>C (p.Thr491Pro)
c.1567A>C (p.Thr523Pro)
c.1513A>C (p.Thr505Pro)
c.1474A>C (p.Thr492Pro)
18g.33738995A>GCA8933776ASXL3c.1594A>G (p.Thr532Ala)
c.1591A>G (p.Thr531Ala)
c.*715A>G (n.*715A>G)
c.*1250A>G (n.*1250A>G)
c.1803A>G (n.1803A>G)
c.1423A>G (p.Thr475Ala)
c.1471A>G (p.Thr491Ala)
c.1567A>G (p.Thr523Ala)
c.1513A>G (p.Thr505Ala)
c.1474A>G (p.Thr492Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.33738995A>TCA402175919ASXL3c.1594A>T (p.Thr532Ser)
c.1591A>T (p.Thr531Ser)
c.*715A>T (n.*715A>T)
c.*1250A>T (n.*1250A>T)
c.1803A>T (n.1803A>T)
c.1423A>T (p.Thr475Ser)
c.1471A>T (p.Thr491Ser)
c.1567A>T (p.Thr523Ser)
c.1513A>T (p.Thr505Ser)
c.1474A>T (p.Thr492Ser)
18g.33738996C>ACA402175920ASXL3c.1595C>A (p.Thr532Lys)
c.1592C>A (p.Thr531Lys)
c.*716C>A (n.*716C>A)
c.*1251C>A (n.*1251C>A)
c.1804C>A (n.1804C>A)
c.1424C>A (p.Thr475Lys)
c.1472C>A (p.Thr491Lys)
c.1568C>A (p.Thr523Lys)
c.1514C>A (p.Thr505Lys)
c.1475C>A (p.Thr492Lys)
18g.33738996C>GCA402175921ASXL3c.1595C>G (p.Thr532Arg)
c.1592C>G (p.Thr531Arg)
c.*716C>G (n.*716C>G)
c.*1251C>G (n.*1251C>G)
c.1804C>G (n.1804C>G)
c.1424C>G (p.Thr475Arg)
c.1472C>G (p.Thr491Arg)
c.1568C>G (p.Thr523Arg)
c.1514C>G (p.Thr505Arg)
c.1475C>G (p.Thr492Arg)
18g.33738996C>TCA402175922ASXL3c.1595C>T (p.Thr532Ile)
c.1592C>T (p.Thr531Ile)
c.*716C>T (n.*716C>T)
c.*1251C>T (n.*1251C>T)
c.1804C>T (n.1804C>T)
c.1424C>T (p.Thr475Ile)
c.1472C>T (p.Thr491Ile)
c.1568C>T (p.Thr523Ile)
c.1514C>T (p.Thr505Ile)
c.1475C>T (p.Thr492Ile)
18g.33738997A=CA2294855776ASXL3c.1596A= (p.Thr532=)
c.1593A= (p.Thr531=)
c.*717A= (n.*717A=)
c.*1252A= (n.*1252A=)
c.1805A= (n.1805A=)
c.1425A= (p.Thr475=)
c.1473A= (p.Thr491=)
c.1569A= (p.Thr523=)
c.1515A= (p.Thr505=)
c.1476A= (p.Thr492=)
18g.33738997A>CCA503768682ASXL3c.1596A>C (p.Thr532=)
c.1593A>C (p.Thr531=)
c.*717A>C (n.*717A>C)
c.*1252A>C (n.*1252A>C)
c.1805A>C (n.1805A>C)
c.1425A>C (p.Thr475=)
c.1473A>C (p.Thr491=)
c.1569A>C (p.Thr523=)
c.1515A>C (p.Thr505=)
c.1476A>C (p.Thr492=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.33738997A>GCA503768683ASXL3c.1596A>G (p.Thr532=)
c.1593A>G (p.Thr531=)
c.*717A>G (n.*717A>G)
c.*1252A>G (n.*1252A>G)
c.1805A>G (n.1805A>G)
c.1425A>G (p.Thr475=)
c.1473A>G (p.Thr491=)
c.1569A>G (p.Thr523=)
c.1515A>G (p.Thr505=)
c.1476A>G (p.Thr492=)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.33738997A>TCA503768684ASXL3c.1596A>T (p.Thr532=)
c.1593A>T (p.Thr531=)
c.*717A>T (n.*717A>T)
c.*1252A>T (n.*1252A>T)
c.1805A>T (n.1805A>T)
c.1425A>T (p.Thr475=)
c.1473A>T (p.Thr491=)
c.1569A>T (p.Thr523=)
c.1515A>T (p.Thr505=)
c.1476A>T (p.Thr492=)
18g.33738997_33739000delinsAGTTCA2294855777ASXL3c.1596_1599delinsAGTT (p.Thr532=)
c.1593_1596delinsAGTT (p.Thr531=)
c.*717_*720delinsAGTT (n.*717_*720delinsAGTT)
c.*1252_*1255delinsAGTT (n.*1252_*1255delinsAGTT)
c.1805_1808delinsAGTT (n.1805_1808delinsAGTT)
c.1425_1428delinsAGTT (p.Thr475=)
c.1473_1476delinsAGTT (p.Thr491=)
c.1569_1572delinsAGTT (p.Thr523=)
c.1515_1518delinsAGTT (p.Thr505=)
c.1476_1479delinsAGTT (p.Thr492=)
18g.33738998G>ACA402175923ASXL3c.1597G>A (p.Val533Ile)
c.1594G>A (p.Val532Ile)
c.*718G>A (n.*718G>A)
c.*1253G>A (n.*1253G>A)
c.1806G>A (n.1806G>A)
c.1426G>A (p.Val476Ile)
c.1474G>A (p.Val492Ile)
c.1570G>A (p.Val524Ile)
c.1516G>A (p.Val506Ile)
c.1477G>A (p.Val493Ile)
gnomAD v4
18g.33738998G>CCA402175924ASXL3c.1597G>C (p.Val533Leu)
c.1594G>C (p.Val532Leu)
c.*718G>C (n.*718G>C)
c.*1253G>C (n.*1253G>C)
c.1806G>C (n.1806G>C)
c.1426G>C (p.Val476Leu)
c.1474G>C (p.Val492Leu)
c.1570G>C (p.Val524Leu)
c.1516G>C (p.Val506Leu)
c.1477G>C (p.Val493Leu)
18g.33738998G>TCA402175925ASXL3c.1597G>T (p.Val533Phe)
c.1594G>T (p.Val532Phe)
c.*718G>T (n.*718G>T)
c.*1253G>T (n.*1253G>T)
c.1806G>T (n.1806G>T)
c.1426G>T (p.Val476Phe)
c.1474G>T (p.Val492Phe)
c.1570G>T (p.Val524Phe)
c.1516G>T (p.Val506Phe)
c.1477G>T (p.Val493Phe)
18g.33739001_33739003delCA503768685ASXL3c.1600_1602del (p.Val534del)
c.1597_1599del (p.Val533del)
c.*721_*723del (n.*721_*723del)
c.*1256_*1258del (n.*1256_*1258del)
c.1809_1811del (n.1809_1811del)
c.1429_1431del (p.Val477del)
c.1477_1479del (p.Val493del)
c.1573_1575del (p.Val525del)
c.1519_1521del (p.Val507del)
c.1480_1482del (p.Val494del)
dbSNP gnomAD v4
18g.33738999T>ACA402175926ASXL3c.1598T>A (p.Val533Asp)
c.1595T>A (p.Val532Asp)
c.*719T>A (n.*719T>A)
c.*1254T>A (n.*1254T>A)
c.1807T>A (n.1807T>A)
c.1427T>A (p.Val476Asp)
c.1475T>A (p.Val492Asp)
c.1571T>A (p.Val524Asp)
c.1517T>A (p.Val506Asp)
c.1478T>A (p.Val493Asp)
18g.33738999T>CCA402175927ASXL3c.1598T>C (p.Val533Ala)
c.1595T>C (p.Val532Ala)
c.*719T>C (n.*719T>C)
c.*1254T>C (n.*1254T>C)
c.1807T>C (n.1807T>C)
c.1427T>C (p.Val476Ala)
c.1475T>C (p.Val492Ala)
c.1571T>C (p.Val524Ala)
c.1517T>C (p.Val506Ala)
c.1478T>C (p.Val493Ala)
18g.33738999T>GCA402175928ASXL3c.1598T>G (p.Val533Gly)
c.1595T>G (p.Val532Gly)
c.*719T>G (n.*719T>G)
c.*1254T>G (n.*1254T>G)
c.1807T>G (n.1807T>G)
c.1427T>G (p.Val476Gly)
c.1475T>G (p.Val492Gly)
c.1571T>G (p.Val524Gly)
c.1517T>G (p.Val506Gly)
c.1478T>G (p.Val493Gly)
18g.33739000T>ACA503768689ASXL3c.1599T>A (p.Val533=)
c.1596T>A (p.Val532=)
c.*720T>A (n.*720T>A)
c.*1255T>A (n.*1255T>A)
c.1808T>A (n.1808T>A)
c.1428T>A (p.Val476=)
c.1476T>A (p.Val492=)
c.1572T>A (p.Val524=)
c.1518T>A (p.Val506=)
c.1479T>A (p.Val493=)
18g.33739000T>CCA503768691ASXL3c.1599T>C (p.Val533=)
c.1596T>C (p.Val532=)
c.*720T>C (n.*720T>C)
c.*1255T>C (n.*1255T>C)
c.1808T>C (n.1808T>C)
c.1428T>C (p.Val476=)
c.1476T>C (p.Val492=)
c.1572T>C (p.Val524=)
c.1518T>C (p.Val506=)
c.1479T>C (p.Val493=)
dbSNP
18g.33739000T>GCA503768693ASXL3c.1599T>G (p.Val533=)
c.1596T>G (p.Val532=)
c.*720T>G (n.*720T>G)
c.*1255T>G (n.*1255T>G)
c.1808T>G (n.1808T>G)
c.1428T>G (p.Val476=)
c.1476T>G (p.Val492=)
c.1572T>G (p.Val524=)
c.1518T>G (p.Val506=)
c.1479T>G (p.Val493=)
18g.33739000T=CA2294855778ASXL3c.1599T= (p.Val533=)
c.1596T= (p.Val532=)
c.*720T= (n.*720T=)
c.*1255T= (n.*1255T=)
c.1808T= (n.1808T=)
c.1428T= (p.Val476=)
c.1476T= (p.Val492=)
c.1572T= (p.Val524=)
c.1518T= (p.Val506=)
c.1479T= (p.Val493=)
18g.33739001G>ACA402175931ASXL3c.1600G>A (p.Val534Ile)
c.1597G>A (p.Val533Ile)
c.*721G>A (n.*721G>A)
c.*1256G>A (n.*1256G>A)
c.1809G>A (n.1809G>A)
c.1429G>A (p.Val477Ile)
c.1477G>A (p.Val493Ile)
c.1573G>A (p.Val525Ile)
c.1519G>A (p.Val507Ile)
c.1480G>A (p.Val494Ile)
gnomAD v4
18g.33739001G>CCA402175929ASXL3c.1600G>C (p.Val534Leu)
c.1597G>C (p.Val533Leu)
c.*721G>C (n.*721G>C)
c.*1256G>C (n.*1256G>C)
c.1809G>C (n.1809G>C)
c.1429G>C (p.Val477Leu)
c.1477G>C (p.Val493Leu)
c.1573G>C (p.Val525Leu)
c.1519G>C (p.Val507Leu)
c.1480G>C (p.Val494Leu)
18g.33739001G>TCA402175930ASXL3c.1600G>T (p.Val534Phe)
c.1597G>T (p.Val533Phe)
c.*721G>T (n.*721G>T)
c.*1256G>T (n.*1256G>T)
c.1809G>T (n.1809G>T)
c.1429G>T (p.Val477Phe)
c.1477G>T (p.Val493Phe)
c.1573G>T (p.Val525Phe)
c.1519G>T (p.Val507Phe)
c.1480G>T (p.Val494Phe)
ClinVar dbSNP
18g.33739002T>ACA402175932ASXL3c.1601T>A (p.Val534Asp)
c.1598T>A (p.Val533Asp)
c.*722T>A (n.*722T>A)
c.*1257T>A (n.*1257T>A)
c.1810T>A (n.1810T>A)
c.1430T>A (p.Val477Asp)
c.1478T>A (p.Val493Asp)
c.1574T>A (p.Val525Asp)
c.1520T>A (p.Val507Asp)
c.1481T>A (p.Val494Asp)
18g.33739002T>CCA402175933ASXL3c.1601T>C (p.Val534Ala)
c.1598T>C (p.Val533Ala)
c.*722T>C (n.*722T>C)
c.*1257T>C (n.*1257T>C)
c.1810T>C (n.1810T>C)
c.1430T>C (p.Val477Ala)
c.1478T>C (p.Val493Ala)
c.1574T>C (p.Val525Ala)
c.1520T>C (p.Val507Ala)
c.1481T>C (p.Val494Ala)
dbSNP gnomAD v3 gnomAD v4
18g.33739002T>GCA402175934ASXL3c.1601T>G (p.Val534Gly)
c.1598T>G (p.Val533Gly)
c.*722T>G (n.*722T>G)
c.*1257T>G (n.*1257T>G)
c.1810T>G (n.1810T>G)
c.1430T>G (p.Val477Gly)
c.1478T>G (p.Val493Gly)
c.1574T>G (p.Val525Gly)
c.1520T>G (p.Val507Gly)
c.1481T>G (p.Val494Gly)
18g.33739002T=CA2294855779ASXL3c.1601T= (p.Val534=)
c.1598T= (p.Val533=)
c.*722T= (n.*722T=)
c.*1257T= (n.*1257T=)
c.1810T= (n.1810T=)
c.1430T= (p.Val477=)
c.1478T= (p.Val493=)
c.1574T= (p.Val525=)
c.1520T= (p.Val507=)
c.1481T= (p.Val494=)
18g.33739003T>ACA503768700ASXL3c.1602T>A (p.Val534=)
c.1599T>A (p.Val533=)
c.*723T>A (n.*723T>A)
c.*1258T>A (n.*1258T>A)
c.1811T>A (n.1811T>A)
c.1431T>A (p.Val477=)
c.1479T>A (p.Val493=)
c.1575T>A (p.Val525=)
c.1521T>A (p.Val507=)
c.1482T>A (p.Val494=)
18g.33739003T>CCA503768702ASXL3c.1602T>C (p.Val534=)
c.1599T>C (p.Val533=)
c.*723T>C (n.*723T>C)
c.*1258T>C (n.*1258T>C)
c.1811T>C (n.1811T>C)
c.1431T>C (p.Val477=)
c.1479T>C (p.Val493=)
c.1575T>C (p.Val525=)
c.1521T>C (p.Val507=)
c.1482T>C (p.Val494=)
18g.33739003T>GCA503768704ASXL3c.1602T>G (p.Val534=)
c.1599T>G (p.Val533=)
c.*723T>G (n.*723T>G)
c.*1258T>G (n.*1258T>G)
c.1811T>G (n.1811T>G)
c.1431T>G (p.Val477=)
c.1479T>G (p.Val493=)
c.1575T>G (p.Val525=)
c.1521T>G (p.Val507=)
c.1482T>G (p.Val494=)
18g.33739004A>CCA402175935ASXL3c.1603A>C (p.Ile535Leu)
c.1600A>C (p.Ile534Leu)
c.*724A>C (n.*724A>C)
c.*1259A>C (n.*1259A>C)
c.1812A>C (n.1812A>C)
c.1432A>C (p.Ile478Leu)
c.1480A>C (p.Ile494Leu)
c.1576A>C (p.Ile526Leu)
c.1522A>C (p.Ile508Leu)
c.1483A>C (p.Ile495Leu)
18g.33739004A>GCA402175936ASXL3c.1603A>G (p.Ile535Val)
c.1600A>G (p.Ile534Val)
c.*724A>G (n.*724A>G)
c.*1259A>G (n.*1259A>G)
c.1812A>G (n.1812A>G)
c.1432A>G (p.Ile478Val)
c.1480A>G (p.Ile494Val)
c.1576A>G (p.Ile526Val)
c.1522A>G (p.Ile508Val)
c.1483A>G (p.Ile495Val)
gnomAD v4
18g.33739004A>TCA402175937ASXL3c.1603A>T (p.Ile535Phe)
c.1600A>T (p.Ile534Phe)
c.*724A>T (n.*724A>T)
c.*1259A>T (n.*1259A>T)
c.1812A>T (n.1812A>T)
c.1432A>T (p.Ile478Phe)
c.1480A>T (p.Ile494Phe)
c.1576A>T (p.Ile526Phe)
c.1522A>T (p.Ile508Phe)
c.1483A>T (p.Ile495Phe)

Number of alleles fetched