Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154957081_154957084dupCA2695237259F8c.1626_1629dup (p.Asp544IlefsTer12)
c.*1502_*1505dup (n.*1502_*1505dup)
c.1521_1524dup (p.Asp509IlefsTer12)
Xg.154957082delCA2695237260F8c.1627del (p.Ser543GlnfsTer6)
c.*1503del (n.*1503del)
c.1522del (p.Ser508GlnfsTer6)
Xg.154957082A>CCA414911909F8c.1627T>G (p.Ser543Ala)
c.*1503T>G (n.*1503T>G)
c.1522T>G (p.Ser508Ala)
Xg.154957082A>GCA414911913F8c.1627T>C (p.Ser543Pro)
c.*1503T>C (n.*1503T>C)
c.1522T>C (p.Ser508Pro)
Xg.154957082A>TCA414911915F8c.1627T>A (p.Ser543Thr)
c.*1503T>A (n.*1503T>A)
c.1522T>A (p.Ser508Thr)
Xg.154957083T>ACA414911916F8c.1626A>T (p.Lys542Asn)
c.*1502A>T (n.*1502A>T)
c.1521A>T (p.Lys507Asn)
Xg.154957083T>CCA519358697F8c.1626A>G (p.Lys542=)
c.*1502A>G (n.*1502A>G)
c.1521A>G (p.Lys507=)
Xg.154957083T>GCA414911918F8c.1626A>C (p.Lys542Asn)
c.*1502A>C (n.*1502A>C)
c.1521A>C (p.Lys507Asn)
Xg.154957084T>ACA414911925F8c.1625A>T (p.Lys542Ile)
c.*1501A>T (n.*1501A>T)
c.1520A>T (p.Lys507Ile)
Xg.154957084T>CCA414911926F8c.1625A>G (p.Lys542Arg)
c.*1501A>G (n.*1501A>G)
c.1520A>G (p.Lys507Arg)
Xg.154957084T>GCA414911927F8c.1625A>C (p.Lys542Thr)
c.*1501A>C (n.*1501A>C)
c.1520A>C (p.Lys507Thr)
Xg.154957085T>ACA414911928F8c.1624A>T (p.Lys542Ter)
c.*1500A>T (n.*1500A>T)
c.1519A>T (p.Lys507Ter)
Xg.154957085T>CCA414911930F8c.1624A>G (p.Lys542Glu)
c.*1500A>G (n.*1500A>G)
c.1519A>G (p.Lys507Glu)
Xg.154957085T>GCA414911931F8c.1624A>C (p.Lys542Gln)
c.*1500A>C (n.*1500A>C)
c.1519A>C (p.Lys507Gln)
Xg.154957086A>CCA519358705F8c.1623T>G (p.Thr541=)
c.*1499T>G (n.*1499T>G)
c.1518T>G (p.Thr506=)
Xg.154957086A>GCA519358707F8c.1623T>C (p.Thr541=)
c.*1499T>C (n.*1499T>C)
c.1518T>C (p.Thr506=)
Xg.154957086A>TCA519358713F8c.1623T>A (p.Thr541=)
c.*1499T>A (n.*1499T>A)
c.1518T>A (p.Thr506=)
Xg.154957087G>ACA414911935F8c.1622C>T (p.Thr541Ile)
c.*1498C>T (n.*1498C>T)
c.1517C>T (p.Thr506Ile)
Xg.154957087G>CCA414911933F8c.1622C>G (p.Thr541Ser)
c.*1498C>G (n.*1498C>G)
c.1517C>G (p.Thr506Ser)
Xg.154957087G>TCA414911932F8c.1622C>A (p.Thr541Asn)
c.*1498C>A (n.*1498C>A)
c.1517C>A (p.Thr506Asn)
Xg.154957088T>ACA337332977F8c.1621A>T (p.Thr541Ser)
c.*1497A>T (n.*1497A>T)
c.1516A>T (p.Thr506Ser)
 ClinVar dbSNP gnomAD v4
Xg.154957088T>CCA414911938F8c.1621A>G (p.Thr541Ala)
c.*1497A>G (n.*1497A>G)
c.1516A>G (p.Thr506Ala)
Xg.154957088T>GCA414911940F8c.1621A>C (p.Thr541Pro)
c.*1497A>C (n.*1497A>C)
c.1516A>C (p.Thr506Pro)
 dbSNP
Xg.154957088T=CA2466845354F8c.1621A= (p.Thr541=)
c.*1497A= (n.*1497A=)
c.1516A= (p.Thr506=)
Xg.154957089T>ACA519358721F8c.1620A>T (p.Pro540=)
c.*1496A>T (n.*1496A>T)
c.1515A>T (p.Pro505=)
Xg.154957089T>CCA519358723F8c.1620A>G (p.Pro540=)
c.*1496A>G (n.*1496A>G)
c.1515A>G (p.Pro505=)
Xg.154957089T>GCA519358725F8c.1620A>C (p.Pro540=)
c.*1496A>C (n.*1496A>C)
c.1515A>C (p.Pro505=)
Xg.154957090G>ACA414911942F8c.1619C>T (p.Pro540Leu)
c.*1495C>T (n.*1495C>T)
c.1514C>T (p.Pro505Leu)
Xg.154957090G>CCA414911944F8c.1619C>G (p.Pro540Arg)
c.*1495C>G (n.*1495C>G)
c.1514C>G (p.Pro505Arg)
Xg.154957090G>TCA414911945F8c.1619C>A (p.Pro540Gln)
c.*1495C>A (n.*1495C>A)
c.1514C>A (p.Pro505Gln)
Xg.154957091delCA2695237261F8c.1619del (p.Pro540GlnfsTer9)
c.*1495del (n.*1495del)
c.1514del (p.Pro505GlnfsTer9)
Xg.154957091G>ACA414911947F8c.1618C>T (p.Pro540Ser)
c.*1494C>T (n.*1494C>T)
c.1513C>T (p.Pro505Ser)
 dbSNP
Xg.154957091G>CCA414911948F8c.1618C>G (p.Pro540Ala)
c.*1494C>G (n.*1494C>G)
c.1513C>G (p.Pro505Ala)
Xg.154957091G=CA2466845355F8c.1618C= (p.Pro540=)
c.*1494C= (n.*1494C=)
c.1513C= (p.Pro505=)
Xg.154957091G>TCA414911950F8c.1618C>A (p.Pro540Thr)
c.*1494C>A (n.*1494C>A)
c.1513C>A (p.Pro505Thr)
Xg.154957092C>ACA519358733F8c.1617G>T (p.Gly539=)
c.*1493G>T (n.*1493G>T)
c.1512G>T (p.Gly504=)
Xg.154957092C>GCA519358734F8c.1617G>C (p.Gly539=)
c.*1493G>C (n.*1493G>C)
c.1512G>C (p.Gly504=)
Xg.154957092C>TCA519358736F8c.1617G>A (p.Gly539=)
c.*1493G>A (n.*1493G>A)
c.1512G>A (p.Gly504=)
Xg.154957093_154957094delCA2579744705F8c.1616_1617del (p.Gly539AlafsTer3)
c.*1492_*1493del (n.*1492_*1493del)
c.1511_1512del (p.Gly504AlafsTer3)
Xg.154957093C>ACA414911951F8c.1616G>T (p.Gly539Val)
c.*1492G>T (n.*1492G>T)
c.1511G>T (p.Gly504Val)
Xg.154957093C>GCA414911954F8c.1616G>C (p.Gly539Ala)
c.*1492G>C (n.*1492G>C)
c.1511G>C (p.Gly504Ala)
Xg.154957093C>TCA414911955F8c.1616G>A (p.Gly539Glu)
c.*1492G>A (n.*1492G>A)
c.1511G>A (p.Gly504Glu)
 COSMIC COSMIC
Xg.154957094C>ACA414911956F8c.1615G>T (p.Gly539Trp)
c.*1491G>T (n.*1491G>T)
c.1510G>T (p.Gly504Trp)
Xg.154957094C>GCA414911959F8c.1615G>C (p.Gly539Arg)
c.*1491G>C (n.*1491G>C)
c.1510G>C (p.Gly504Arg)
Xg.154957094C>TCA414911958F8c.1615G>A (p.Gly539Arg)
c.*1491G>A (n.*1491G>A)
c.1510G>A (p.Gly504Arg)
Xg.154957095A>CCA414911960F8c.1614T>G (p.Asp538Glu)
c.*1490T>G (n.*1490T>G)
c.1509T>G (p.Asp503Glu)
Xg.154957095A>GCA519358747F8c.1614T>C (p.Asp538=)
c.*1490T>C (n.*1490T>C)
c.1509T>C (p.Asp503=)
Xg.154957095A>TCA414911961F8c.1614T>A (p.Asp538Glu)
c.*1490T>A (n.*1490T>A)
c.1509T>A (p.Asp503Glu)
Xg.154957096T>ACA414911963F8c.1613A>T (p.Asp538Val)
c.*1489A>T (n.*1489A>T)
c.1508A>T (p.Asp503Val)
 gnomAD v4
Xg.154957096T>CCA414911964F8c.1613A>G (p.Asp538Gly)
c.*1489A>G (n.*1489A>G)
c.1508A>G (p.Asp503Gly)
Xg.154957096T>GCA414911966F8c.1613A>C (p.Asp538Ala)
c.*1489A>C (n.*1489A>C)
c.1508A>C (p.Asp503Ala)
Xg.154957097C>ACA414911968F8c.1612G>T (p.Asp538Tyr)
c.*1488G>T (n.*1488G>T)
c.1507G>T (p.Asp503Tyr)
Xg.154957097C=CA2466845356F8c.1612G= (p.Asp538=)
c.*1488G= (n.*1488G=)
c.1507G= (p.Asp503=)
Xg.154957097C>GCA414911970F8c.1612G>C (p.Asp538His)
c.*1488G>C (n.*1488G>C)
c.1507G>C (p.Asp503His)
Xg.154957097C>TCA414911972F8c.1612G>A (p.Asp538Asn)
c.*1488G>A (n.*1488G>A)
c.1507G>A (p.Asp503Asn)
 dbSNP gnomAD v2 gnomAD v4
Xg.154957098T>ACA414911973F8c.1611A>T (p.Glu537Asp)
c.*1487A>T (n.*1487A>T)
c.1506A>T (p.Glu502Asp)
Xg.154957098T>CCA519358757F8c.1611A>G (p.Glu537=)
c.*1487A>G (n.*1487A>G)
c.1506A>G (p.Glu502=)
 gnomAD v4
Xg.154957098T>GCA414911974F8c.1611A>C (p.Glu537Asp)
c.*1487A>C (n.*1487A>C)
c.1506A>C (p.Glu502Asp)
Xg.154957099T>ACA414911978F8c.1610A>T (p.Glu537Val)
c.*1486A>T (n.*1486A>T)
c.1505A>T (p.Glu502Val)
Xg.154957099T>CCA414911975F8c.1610A>G (p.Glu537Gly)
c.*1486A>G (n.*1486A>G)
c.1505A>G (p.Glu502Gly)
Xg.154957099T>GCA414911977F8c.1610A>C (p.Glu537Ala)
c.*1486A>C (n.*1486A>C)
c.1505A>C (p.Glu502Ala)
Xg.154957100C>ACA414911979F8c.1609G>T (p.Glu537Ter)
c.*1485G>T (n.*1485G>T)
c.1504G>T (p.Glu502Ter)
Xg.154957100C>GCA414911981F8c.1609G>C (p.Glu537Gln)
c.*1485G>C (n.*1485G>C)
c.1504G>C (p.Glu502Gln)
Xg.154957100C>TCA414911982F8c.1609G>A (p.Glu537Lys)
c.*1485G>A (n.*1485G>A)
c.1504G>A (p.Glu502Lys)
Xg.154957100_154957103delinsAAGCATCATGCA2695237262F8c.1606_1609delinsCATGATGCTT (p.Val536HisfsTer4)
c.*1482_*1485delinsCATGATGCTT (n.*1482_*1485delinsCATGATGCTT)
c.1501_1504delinsCATGATGCTT (p.Val501HisfsTer4)
Xg.154957101T>ACA519358781F8c.1608A>T (p.Val536=)
c.*1484A>T (n.*1484A>T)
c.1503A>T (p.Val501=)
Xg.154957101T>CCA519358779F8c.1608A>G (p.Val536=)
c.*1484A>G (n.*1484A>G)
c.1503A>G (p.Val501=)
 gnomAD v4
Xg.154957101T>GCA519358777F8c.1608A>C (p.Val536=)
c.*1484A>C (n.*1484A>C)
c.1503A>C (p.Val501=)
Xg.154957102A>CCA414911984F8c.1607T>G (p.Val536Gly)
c.*1483T>G (n.*1483T>G)
c.1502T>G (p.Val501Gly)
Xg.154957102A>GCA414911985F8c.1607T>C (p.Val536Ala)
c.*1483T>C (n.*1483T>C)
c.1502T>C (p.Val501Ala)
 gnomAD v4
Xg.154957102A>TCA414911987F8c.1607T>A (p.Val536Glu)
c.*1483T>A (n.*1483T>A)
c.1502T>A (p.Val501Glu)
Xg.154957103C>ACA414911989F8c.1606G>T (p.Val536Leu)
c.*1482G>T (n.*1482G>T)
c.1501G>T (p.Val501Leu)
Xg.154957103C>GCA414911990F8c.1606G>C (p.Val536Leu)
c.*1482G>C (n.*1482G>C)
c.1501G>C (p.Val501Leu)
Xg.154957103C>TCA414911991F8c.1606G>A (p.Val536Ile)
c.*1482G>A (n.*1482G>A)
c.1501G>A (p.Val501Ile)
 gnomAD v4
Xg.154957104delCA2695237263F8c.1605del (p.Val536Ter)
c.*1481del (n.*1481del)
c.1500del (p.Val501Ter)
Xg.154957104A>CCA519358788F8c.1605T>G (p.Thr535=)
c.*1481T>G (n.*1481T>G)
c.1500T>G (p.Thr500=)
Xg.154957104A>GCA519358790F8c.1605T>C (p.Thr535=)
c.*1481T>C (n.*1481T>C)
c.1500T>C (p.Thr500=)
Xg.154957104A>TCA519358791F8c.1605T>A (p.Thr535=)
c.*1481T>A (n.*1481T>A)
c.1500T>A (p.Thr500=)
Xg.154957105G>ACA414911996F8c.1604C>T (p.Thr535Ile)
c.*1480C>T (n.*1480C>T)
c.1499C>T (p.Thr500Ile)
 dbSNP
Xg.154957105G>CCA414911994F8c.1604C>G (p.Thr535Ser)
c.*1480C>G (n.*1480C>G)
c.1499C>G (p.Thr500Ser)
Xg.154957105G=CA2466845357F8c.1604C= (p.Thr535=)
c.*1480C= (n.*1480C=)
c.1499C= (p.Thr500=)
Xg.154957105G>TCA414911992F8c.1604C>A (p.Thr535Asn)
c.*1480C>A (n.*1480C>A)
c.1499C>A (p.Thr500Asn)
Xg.154957106T>ACA414911997F8c.1603A>T (p.Thr535Ser)
c.*1479A>T (n.*1479A>T)
c.1498A>T (p.Thr500Ser)
Xg.154957106T>CCA414911998F8c.1603A>G (p.Thr535Ala)
c.*1479A>G (n.*1479A>G)
c.1498A>G (p.Thr500Ala)
Xg.154957106T>GCA414912000F8c.1603A>C (p.Thr535Pro)
c.*1479A>C (n.*1479A>C)
c.1498A>C (p.Thr500Pro)
Xg.154957107C>ACA519358800F8c.1602G>T (p.Val534=)
c.*1478G>T (n.*1478G>T)
c.1497G>T (p.Val499=)
 gnomAD v4
Xg.154957107C>GCA519358803F8c.1602G>C (p.Val534=)
c.*1478G>C (n.*1478G>C)
c.1497G>C (p.Val499=)
Xg.154957107C>TCA519358802F8c.1602G>A (p.Val534=)
c.*1478G>A (n.*1478G>A)
c.1497G>A (p.Val499=)
Xg.154957108A=CA2466845358F8c.1601T= (p.Val534=)
c.*1477T= (n.*1477T=)
c.1496T= (p.Val499=)
Xg.154957108A>CCA414912001F8c.1601T>G (p.Val534Gly)
c.*1477T>G (n.*1477T>G)
c.1496T>G (p.Val499Gly)
Xg.154957108A>GCA414912004F8c.1601T>C (p.Val534Ala)
c.*1477T>C (n.*1477T>C)
c.1496T>C (p.Val499Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.154957108A>TCA414912006F8c.1601T>A (p.Val534Glu)
c.*1477T>A (n.*1477T>A)
c.1496T>A (p.Val499Glu)
Xg.154957108_154957130delCA2695237264F8c.1579_1601del (p.Ile527AspfsTer8)
c.*1455_*1477del (n.*1455_*1477del)
c.1474_1496del (p.Ile492AspfsTer8)
Xg.154957109C>ACA414912009F8c.1600G>T (p.Val534Leu)
c.*1476G>T (n.*1476G>T)
c.1495G>T (p.Val499Leu)
Xg.154957109C=CA2466845359F8c.1600G= (p.Val534=)
c.*1476G= (n.*1476G=)
c.1495G= (p.Val499=)
Xg.154957109C>GCA414912012F8c.1600G>C (p.Val534Leu)
c.*1476G>C (n.*1476G>C)
c.1495G>C (p.Val499Leu)
Xg.154957109C>TCA10568428F8c.1600G>A (p.Val534Met)
c.*1476G>A (n.*1476G>A)
c.1495G>A (p.Val499Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154957110T>ACA519358813F8c.1599A>T (p.Thr533=)
c.*1475A>T (n.*1475A>T)
c.1494A>T (p.Thr498=)
Xg.154957110T>CCA519358814F8c.1599A>G (p.Thr533=)
c.*1475A>G (n.*1475A>G)
c.1494A>G (p.Thr498=)
Xg.154957110T>GCA519358816F8c.1599A>C (p.Thr533=)
c.*1475A>C (n.*1475A>C)
c.1494A>C (p.Thr498=)
Xg.154957111G>ACA414912015F8c.1598C>T (p.Thr533Ile)
c.*1474C>T (n.*1474C>T)
c.1493C>T (p.Thr498Ile)
Xg.154957111G>CCA414912016F8c.1598C>G (p.Thr533Arg)
c.*1474C>G (n.*1474C>G)
c.1493C>G (p.Thr498Arg)
Xg.154957111G>TCA414912018F8c.1598C>A (p.Thr533Lys)
c.*1474C>A (n.*1474C>A)
c.1493C>A (p.Thr498Lys)
Xg.154957112T>ACA414912024F8c.1597A>T (p.Thr533Ser)
c.*1473A>T (n.*1473A>T)
c.1492A>T (p.Thr498Ser)
Xg.154957112T>CCA414912022F8c.1597A>G (p.Thr533Ala)
c.*1473A>G (n.*1473A>G)
c.1492A>G (p.Thr498Ala)
Xg.154957112T>GCA414912020F8c.1597A>C (p.Thr533Pro)
c.*1473A>C (n.*1473A>C)
c.1492A>C (p.Thr498Pro)
Xg.154957112T=CA2466845360F8c.1597A= (p.Thr533=)
c.*1473A= (n.*1473A=)
c.1492A= (p.Thr498=)
Xg.154957113C>ACA414912038F8c.1596G>T (p.Trp532Cys)
c.*1472G>T (n.*1472G>T)
c.1491G>T (p.Trp497Cys)
Xg.154957113C>GCA414912042F8c.1596G>C (p.Trp532Cys)
c.*1472G>C (n.*1472G>C)
c.1491G>C (p.Trp497Cys)
Xg.154957113C>TCA414912044F8c.1596G>A (p.Trp532Ter)
c.*1472G>A (n.*1472G>A)
c.1491G>A (p.Trp497Ter)
Xg.154957114dupCA255110F8c.1596dup (p.Thr533AspfsTer10)
c.*1472dup (n.*1472dup)
c.1491dup (p.Thr498AspfsTer10)
 ClinVar dbSNP
Xg.154957114C>ACA414912046F8c.1595G>T (p.Trp532Leu)
c.*1471G>T (n.*1471G>T)
c.1490G>T (p.Trp497Leu)
Xg.154957114C>GCA414912051F8c.1595G>C (p.Trp532Ser)
c.*1471G>C (n.*1471G>C)
c.1490G>C (p.Trp497Ser)
Xg.154957114C>TCA414912060F8c.1595G>A (p.Trp532Ter)
c.*1471G>A (n.*1471G>A)
c.1490G>A (p.Trp497Ter)
Xg.154957115A=CA2466845361F8c.1594T= (p.Trp532=)
c.*1470T= (n.*1470T=)
c.1489T= (p.Trp497=)
Xg.154957115A>CCA414912064F8c.1594T>G (p.Trp532Gly)
c.*1470T>G (n.*1470T>G)
c.1489T>G (p.Trp497Gly)
Xg.154957115A>GCA414912067F8c.1594T>C (p.Trp532Arg)
c.*1470T>C (n.*1470T>C)
c.1489T>C (p.Trp497Arg)
 dbSNP
Xg.154957115A>TCA414912071F8c.1594T>A (p.Trp532Arg)
c.*1470T>A (n.*1470T>A)
c.1489T>A (p.Trp497Arg)
Xg.154957116T>ACA414912074F8c.1593A>T (p.Lys531Asn)
c.*1469A>T (n.*1469A>T)
c.1488A>T (p.Lys496Asn)
Xg.154957116T>CCA519358832F8c.1593A>G (p.Lys531=)
c.*1469A>G (n.*1469A>G)
c.1488A>G (p.Lys496=)
 dbSNP
Xg.154957116T>GCA414912076F8c.1593A>C (p.Lys531Asn)
c.*1469A>C (n.*1469A>C)
c.1488A>C (p.Lys496Asn)
Xg.154957116T=CA2466845362F8c.1593A= (p.Lys531=)
c.*1469A= (n.*1469A=)
c.1488A= (p.Lys496=)
Xg.154957117T>ACA414912080F8c.1592A>T (p.Lys531Ile)
c.*1468A>T (n.*1468A>T)
c.1487A>T (p.Lys496Ile)
Xg.154957117T>CCA414912084F8c.1592A>G (p.Lys531Arg)
c.*1468A>G (n.*1468A>G)
c.1487A>G (p.Lys496Arg)
Xg.154957117T>GCA414912082F8c.1592A>C (p.Lys531Thr)
c.*1468A>C (n.*1468A>C)
c.1487A>C (p.Lys496Thr)
Xg.154957118T>ACA414912086F8c.1591A>T (p.Lys531Ter)
c.*1467A>T (n.*1467A>T)
c.1486A>T (p.Lys496Ter)
Xg.154957118T>CCA414912089F8c.1591A>G (p.Lys531Glu)
c.*1467A>G (n.*1467A>G)
c.1486A>G (p.Lys496Glu)
Xg.154957118T>GCA414912091F8c.1591A>C (p.Lys531Gln)
c.*1467A>C (n.*1467A>C)
c.1486A>C (p.Lys496Gln)
Xg.154957119A>CCA414912095F8c.1590T>G (p.Tyr530Ter)
c.*1466T>G (n.*1466T>G)
c.1485T>G (p.Tyr495Ter)
Xg.154957119A>GCA519358842F8c.1590T>C (p.Tyr530=)
c.*1466T>C (n.*1466T>C)
c.1485T>C (p.Tyr495=)
Xg.154957119A>TCA414912096F8c.1590T>A (p.Tyr530Ter)
c.*1466T>A (n.*1466T>A)
c.1485T>A (p.Tyr495Ter)
Xg.154957120T>ACA414912100F8c.1589A>T (p.Tyr530Phe)
c.*1465A>T (n.*1465A>T)
c.1484A>T (p.Tyr495Phe)
Xg.154957120T>CCA414912104F8c.1589A>G (p.Tyr530Cys)
c.*1465A>G (n.*1465A>G)
c.1484A>G (p.Tyr495Cys)
 ClinVar dbSNP
Xg.154957120T>GCA414912105F8c.1589A>C (p.Tyr530Ser)
c.*1465A>C (n.*1465A>C)
c.1484A>C (p.Tyr495Ser)
Xg.154957120T=CA2466845363F8c.1589A= (p.Tyr530=)
c.*1465A= (n.*1465A=)
c.1484A= (p.Tyr495=)
Xg.154957121A>CCA414912107F8c.1588T>G (p.Tyr530Asp)
c.*1464T>G (n.*1464T>G)
c.1483T>G (p.Tyr495Asp)
Xg.154957121A>GCA414912108F8c.1588T>C (p.Tyr530His)
c.*1464T>C (n.*1464T>C)
c.1483T>C (p.Tyr495His)
Xg.154957121A>TCA414912111F8c.1588T>A (p.Tyr530Asn)
c.*1464T>A (n.*1464T>A)
c.1483T>A (p.Tyr495Asn)
Xg.154957121_154957127delCA2695237265F8c.1582_1588del (p.Phe528IlefsTer5)
c.*1458_*1464del (n.*1458_*1464del)
c.1477_1483del (p.Phe493IlefsTer5)
Xg.154957122T>ACA414912116F8c.1587A>T (p.Lys529Asn)
c.*1463A>T (n.*1463A>T)
c.1482A>T (p.Lys494Asn)
Xg.154957122T>CCA519358851F8c.1587A>G (p.Lys529=)
c.*1463A>G (n.*1463A>G)
c.1482A>G (p.Lys494=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.154957122T>GCA414912113F8c.1587A>C (p.Lys529Asn)
c.*1463A>C (n.*1463A>C)
c.1482A>C (p.Lys494Asn)
Xg.154957122T=CA2466845364F8c.1587A= (p.Lys529=)
c.*1463A= (n.*1463A=)
c.1482A= (p.Lys494=)
Xg.154957124delCA2695237266F8c.1587del (p.Lys529AsnfsTer6)
c.*1463del (n.*1463del)
c.1482del (p.Lys494AsnfsTer6)
Xg.154957123T>ACA414912119F8c.1586A>T (p.Lys529Ile)
c.*1462A>T (n.*1462A>T)
c.1481A>T (p.Lys494Ile)
Xg.154957123T>CCA414912122F8c.1586A>G (p.Lys529Arg)
c.*1462A>G (n.*1462A>G)
c.1481A>G (p.Lys494Arg)
Xg.154957123T>GCA414912124F8c.1586A>C (p.Lys529Thr)
c.*1462A>C (n.*1462A>C)
c.1481A>C (p.Lys494Thr)
 COSMIC COSMIC
Xg.154957124T>ACA414912126F8c.1585A>T (p.Lys529Ter)
c.*1461A>T (n.*1461A>T)
c.1480A>T (p.Lys494Ter)
Xg.154957124T>CCA414912128F8c.1585A>G (p.Lys529Glu)
c.*1461A>G (n.*1461A>G)
c.1480A>G (p.Lys494Glu)
Xg.154957124T>GCA414912130F8c.1585A>C (p.Lys529Gln)
c.*1461A>C (n.*1461A>C)
c.1480A>C (p.Lys494Gln)
Xg.154957125G>ACA519358869F8c.1584C>T (p.Phe528=)
c.*1460C>T (n.*1460C>T)
c.1479C>T (p.Phe493=)
Xg.154957125G>CCA414912132F8c.1584C>G (p.Phe528Leu)
c.*1460C>G (n.*1460C>G)
c.1479C>G (p.Phe493Leu)
Xg.154957125G>TCA414912135F8c.1584C>A (p.Phe528Leu)
c.*1460C>A (n.*1460C>A)
c.1479C>A (p.Phe493Leu)
Xg.154957126A>CCA414912137F8c.1583T>G (p.Phe528Cys)
c.*1459T>G (n.*1459T>G)
c.1478T>G (p.Phe493Cys)
Xg.154957126A>GCA414912140F8c.1583T>C (p.Phe528Ser)
c.*1459T>C (n.*1459T>C)
c.1478T>C (p.Phe493Ser)
Xg.154957126A>TCA414912141F8c.1583T>A (p.Phe528Tyr)
c.*1459T>A (n.*1459T>A)
c.1478T>A (p.Phe493Tyr)
Xg.154957127A>CCA414912149F8c.1582T>G (p.Phe528Val)
c.*1458T>G (n.*1458T>G)
c.1477T>G (p.Phe493Val)
Xg.154957127A>GCA414912151F8c.1582T>C (p.Phe528Leu)
c.*1458T>C (n.*1458T>C)
c.1477T>C (p.Phe493Leu)
 gnomAD v4
Xg.154957127A>TCA414912143F8c.1582T>A (p.Phe528Ile)
c.*1458T>A (n.*1458T>A)
c.1477T>A (p.Phe493Ile)
Xg.154957128T>ACA519358880F8c.1581A>T (p.Ile527=)
c.*1457A>T (n.*1457A>T)
c.1476A>T (p.Ile492=)
Xg.154957128T>CCA10568429F8c.1581A>G (p.Ile527Met)
c.*1457A>G (n.*1457A>G)
c.1476A>G (p.Ile492Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154957128T>GCA519358882F8c.1581A>C (p.Ile527=)
c.*1457A>C (n.*1457A>C)
c.1476A>C (p.Ile492=)
Xg.154957128T=CA2466845365F8c.1581A= (p.Ile527=)
c.*1457A= (n.*1457A=)
c.1476A= (p.Ile492=)
Xg.154957129A>CCA414912156F8c.1580T>G (p.Ile527Arg)
c.*1456T>G (n.*1456T>G)
c.1475T>G (p.Ile492Arg)
Xg.154957129A>GCA414912160F8c.1580T>C (p.Ile527Thr)
c.*1456T>C (n.*1456T>C)
c.1475T>C (p.Ile492Thr)
Xg.154957129A>TCA414912158F8c.1580T>A (p.Ile527Lys)
c.*1456T>A (n.*1456T>A)
c.1475T>A (p.Ile492Lys)
Xg.154957130T>ACA414912163F8c.1579A>T (p.Ile527Leu)
c.*1455A>T (n.*1455A>T)
c.1474A>T (p.Ile492Leu)
Xg.154957130T>CCA414912164F8c.1579A>G (p.Ile527Val)
c.*1455A>G (n.*1455A>G)
c.1474A>G (p.Ile492Val)
Xg.154957130T>GCA414912167F8c.1579A>C (p.Ile527Leu)
c.*1455A>C (n.*1455A>C)
c.1474A>C (p.Ile492Leu)
Xg.154957132delCA2579744706F8c.1579del (p.Ile527TyrfsTer8)
c.*1455del (n.*1455del)
c.1474del (p.Ile492TyrfsTer8)
Xg.154957131T>ACA414912170F8c.1578A>T (p.Glu526Asp)
c.*1454A>T (n.*1454A>T)
c.1473A>T (p.Glu491Asp)
Xg.154957131T>CCA519358890F8c.1578A>G (p.Glu526=)
c.*1454A>G (n.*1454A>G)
c.1473A>G (p.Glu491=)
Xg.154957131T>GCA414912173F8c.1578A>C (p.Glu526Asp)
c.*1454A>C (n.*1454A>C)
c.1473A>C (p.Glu491Asp)
Xg.154957132T>ACA337333012F8c.1577A>T (p.Glu526Val)
c.*1453A>T (n.*1453A>T)
c.1472A>T (p.Glu491Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154957132T>CCA414912177F8c.1577A>G (p.Glu526Gly)
c.*1453A>G (n.*1453A>G)
c.1472A>G (p.Glu491Gly)
Xg.154957132T>GCA414912180F8c.1577A>C (p.Glu526Ala)
c.*1453A>C (n.*1453A>C)
c.1472A>C (p.Glu491Ala)
Xg.154957132T=CA2466845366F8c.1577A= (p.Glu526=)
c.*1453A= (n.*1453A=)
c.1472A= (p.Glu491=)
Xg.154957133C>ACA414912182F8c.1576G>T (p.Glu526Ter)
c.*1452G>T (n.*1452G>T)
c.1471G>T (p.Glu491Ter)
 COSMIC COSMIC
Xg.154957133C>GCA414912185F8c.1576G>C (p.Glu526Gln)
c.*1452G>C (n.*1452G>C)
c.1471G>C (p.Glu491Gln)
Xg.154957133C>TCA414912187F8c.1576G>A (p.Glu526Lys)
c.*1452G>A (n.*1452G>A)
c.1471G>A (p.Glu491Lys)
 gnomAD v4
Xg.154957134T>ACA519358893F8c.1575A>T (p.Gly525=)
c.*1451A>T (n.*1451A>T)
c.1470A>T (p.Gly490=)
Xg.154957134T>CCA519358894F8c.1575A>G (p.Gly525=)
c.*1451A>G (n.*1451A>G)
c.1470A>G (p.Gly490=)
Xg.154957134T>GCA519358897F8c.1575A>C (p.Gly525=)
c.*1451A>C (n.*1451A>C)
c.1470A>C (p.Gly490=)
Xg.154957135C>ACA414912190F8c.1574G>T (p.Gly525Val)
c.*1450G>T (n.*1450G>T)
c.1469G>T (p.Gly490Val)
Xg.154957135C>GCA414912188F8c.1574G>C (p.Gly525Ala)
c.*1450G>C (n.*1450G>C)
c.1469G>C (p.Gly490Ala)
Xg.154957135C>TCA414912189F8c.1574G>A (p.Gly525Glu)
c.*1450G>A (n.*1450G>A)
c.1469G>A (p.Gly490Glu)
Xg.154957136C>ACA414912191F8c.1573G>T (p.Gly525Ter)
c.*1449G>T (n.*1449G>T)
c.1468G>T (p.Gly490Ter)
Xg.154957136C=CA2466845367F8c.1573G= (p.Gly525=)
c.*1449G= (n.*1449G=)
c.1468G= (p.Gly490=)
Xg.154957136C>GCA414912192F8c.1573G>C (p.Gly525Arg)
c.*1449G>C (n.*1449G>C)
c.1468G>C (p.Gly490Arg)
Xg.154957136C>TCA414912194F8c.1573G>A (p.Gly525Arg)
c.*1449G>A (n.*1449G>A)
c.1468G>A (p.Gly490Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154957137T>ACA519358904F8c.1572A>T (p.Pro524=)
c.*1448A>T (n.*1448A>T)
c.1467A>T (p.Pro489=)
Xg.154957137T>CCA519358902F8c.1572A>G (p.Pro524=)
c.*1448A>G (n.*1448A>G)
c.1467A>G (p.Pro489=)
 gnomAD v4
Xg.154957137T>GCA519358900F8c.1572A>C (p.Pro524=)
c.*1448A>C (n.*1448A>C)
c.1467A>C (p.Pro489=)
 gnomAD v4
Xg.154957138G>ACA414912196F8c.1571C>T (p.Pro524Leu)
c.*1447C>T (n.*1447C>T)
c.1466C>T (p.Pro489Leu)
 dbSNP
Xg.154957138G>CCA414912201F8c.1571C>G (p.Pro524Arg)
c.*1447C>G (n.*1447C>G)
c.1466C>G (p.Pro489Arg)
Xg.154957138G=CA2466845368F8c.1571C= (p.Pro524=)
c.*1447C= (n.*1447C=)
c.1466C= (p.Pro489=)
Xg.154957138G>TCA414912203F8c.1571C>A (p.Pro524Gln)
c.*1447C>A (n.*1447C>A)
c.1466C>A (p.Pro489Gln)
Xg.154957139G>ACA414912205F8c.1570C>T (p.Pro524Ser)
c.*1446C>T (n.*1446C>T)
c.1465C>T (p.Pro489Ser)
Xg.154957139G>CCA414912208F8c.1570C>G (p.Pro524Ala)
c.*1446C>G (n.*1446C>G)
c.1465C>G (p.Pro489Ala)
 gnomAD v4
Xg.154957139G>TCA414912210F8c.1570C>A (p.Pro524Thr)
c.*1446C>A (n.*1446C>A)
c.1465C>A (p.Pro489Thr)
Xg.154957140C>ACA10568430F8c.1569G>T (p.Leu523=)
c.*1445G>T (n.*1445G>T)
c.1464G>T (p.Leu488=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154957140C=CA2466845369F8c.1569G= (p.Leu523=)
c.*1445G= (n.*1445G=)
c.1464G= (p.Leu488=)
Xg.154957140C>GCA519358924F8c.1569G>C (p.Leu523=)
c.*1445G>C (n.*1445G>C)
c.1464G>C (p.Leu488=)
Xg.154957140C>TCA519358927F8c.1569G>A (p.Leu523=)
c.*1445G>A (n.*1445G>A)
c.1464G>A (p.Leu488=)
 gnomAD v4
Xg.154957141A>CCA414912217F8c.1568T>G (p.Leu523Arg)
c.*1444T>G (n.*1444T>G)
c.1463T>G (p.Leu488Arg)
Xg.154957141A>GCA414912214F8c.1568T>C (p.Leu523Pro)
c.*1444T>C (n.*1444T>C)
c.1463T>C (p.Leu488Pro)
Xg.154957141A>TCA414912213F8c.1568T>A (p.Leu523Gln)
c.*1444T>A (n.*1444T>A)
c.1463T>A (p.Leu488Gln)
Xg.154957142G>ACA519358940F8c.1567C>T (p.Leu523=)
c.*1443C>T (n.*1443C>T)
c.1462C>T (p.Leu488=)
Xg.154957142G>CCA414912221F8c.1567C>G (p.Leu523Val)
c.*1443C>G (n.*1443C>G)
c.1462C>G (p.Leu488Val)
Xg.154957142G>TCA414912223F8c.1567C>A (p.Leu523Met)
c.*1443C>A (n.*1443C>A)
c.1462C>A (p.Leu488Met)
Xg.154957143A>CCA414912226F8c.1566T>G (p.Ile522Met)
c.*1442T>G (n.*1442T>G)
c.1461T>G (p.Ile487Met)
Xg.154957143A>GCA519358945F8c.1566T>C (p.Ile522=)
c.*1442T>C (n.*1442T>C)
c.1461T>C (p.Ile487=)
Xg.154957143A>TCA519358947F8c.1566T>A (p.Ile522=)
c.*1442T>A (n.*1442T>A)
c.1461T>A (p.Ile487=)
 gnomAD v4
Xg.154957144A>CCA414912230F8c.1565T>G (p.Ile522Ser)
c.*1441T>G (n.*1441T>G)
c.1460T>G (p.Ile487Ser)
Xg.154957144A>GCA414912231F8c.1565T>C (p.Ile522Thr)
c.*1441T>C (n.*1441T>C)
c.1460T>C (p.Ile487Thr)
Xg.154957144A>TCA414912234F8c.1565T>A (p.Ile522Asn)
c.*1441T>A (n.*1441T>A)
c.1460T>A (p.Ile487Asn)
Xg.154957144_154957145delinsTACA2695237267F8c.1564_1565delinsTA (p.Ile522Tyr)
c.*1440_*1441delinsTA (n.*1440_*1441delinsTA)
c.1459_1460delinsTA (p.Ile487Tyr)
Xg.154957145T>ACA414912237F8c.1564A>T (p.Ile522Phe)
c.*1440A>T (n.*1440A>T)
c.1459A>T (p.Ile487Phe)
Xg.154957145T>CCA414912238F8c.1564A>G (p.Ile522Val)
c.*1440A>G (n.*1440A>G)
c.1459A>G (p.Ile487Val)
 dbSNP gnomAD v2 gnomAD v4
Xg.154957145T>GCA414912240F8c.1564A>C (p.Ile522Leu)
c.*1440A>C (n.*1440A>C)
c.1459A>C (p.Ile487Leu)
Xg.154957145T=CA2466845370F8c.1564A= (p.Ile522=)
c.*1440A= (n.*1440A=)
c.1459A= (p.Ile487=)
Xg.154957146T>ACA519358959F8c.1563A>T (p.Pro521=)
c.*1439A>T (n.*1439A>T)
c.1458A>T (p.Pro486=)
Xg.154957146T>CCA519358961F8c.1563A>G (p.Pro521=)
c.*1439A>G (n.*1439A>G)
c.1458A>G (p.Pro486=)
Xg.154957146T>GCA519358963F8c.1563A>C (p.Pro521=)
c.*1439A>C (n.*1439A>C)
c.1458A>C (p.Pro486=)
Xg.154957147G>ACA414912242F8c.1562C>T (p.Pro521Leu)
c.*1438C>T (n.*1438C>T)
c.1457C>T (p.Pro486Leu)
Xg.154957147G>CCA414912243F8c.1562C>G (p.Pro521Arg)
c.*1438C>G (n.*1438C>G)
c.1457C>G (p.Pro486Arg)
Xg.154957147G>TCA414912244F8c.1562C>A (p.Pro521Gln)
c.*1438C>A (n.*1438C>A)
c.1457C>A (p.Pro486Gln)
Xg.154957148G>ACA10568431F8c.1561C>T (p.Pro521Ser)
c.*1437C>T (n.*1437C>T)
c.1456C>T (p.Pro486Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154957148G>CCA414912248F8c.1561C>G (p.Pro521Ala)
c.*1437C>G (n.*1437C>G)
c.1456C>G (p.Pro486Ala)
Xg.154957148G=CA2466845371F8c.1561C= (p.Pro521=)
c.*1437C= (n.*1437C=)
c.1456C= (p.Pro486=)
Xg.154957148G>TCA414912250F8c.1561C>A (p.Pro521Thr)
c.*1437C>A (n.*1437C>A)
c.1456C>A (p.Pro486Thr)
 gnomAD v4
Xg.154957149A>CCA414912254F8c.1560T>G (p.Phe520Leu)
c.*1436T>G (n.*1436T>G)
c.1455T>G (p.Phe485Leu)
Xg.154957149A>GCA519358977F8c.1560T>C (p.Phe520=)
c.*1436T>C (n.*1436T>C)
c.1455T>C (p.Phe485=)
Xg.154957149A>TCA414912257F8c.1560T>A (p.Phe520Leu)
c.*1436T>A (n.*1436T>A)
c.1455T>A (p.Phe485Leu)
Xg.154957152delCA915940900F8c.1560del (p.Pro521GlnfsTer14)
c.*1436del (n.*1436del)
c.1455del (p.Pro486GlnfsTer14)
Xg.154957150A>CCA414912261F8c.1559T>G (p.Phe520Cys)
c.*1435T>G (n.*1435T>G)
c.1454T>G (p.Phe485Cys)
Xg.154957150A>GCA414912263F8c.1559T>C (p.Phe520Ser)
c.*1435T>C (n.*1435T>C)
c.1454T>C (p.Phe485Ser)
Xg.154957150A>TCA414912266F8c.1559T>A (p.Phe520Tyr)
c.*1435T>A (n.*1435T>A)
c.1454T>A (p.Phe485Tyr)
Xg.154957151A>CCA414912267F8c.1558T>G (p.Phe520Val)
c.*1434T>G (n.*1434T>G)
c.1453T>G (p.Phe485Val)
Xg.154957151A>GCA414912269F8c.1558T>C (p.Phe520Leu)
c.*1434T>C (n.*1434T>C)
c.1453T>C (p.Phe485Leu)
Xg.154957151A>TCA414912271F8c.1558T>A (p.Phe520Ile)
c.*1434T>A (n.*1434T>A)
c.1453T>A (p.Phe485Ile)
Xg.154957152A>CCA414912273F8c.1557T>G (p.Asp519Glu)
c.*1433T>G (n.*1433T>G)
c.1452T>G (p.Asp484Glu)
Xg.154957152A>GCA519358998F8c.1557T>C (p.Asp519=)
c.*1433T>C (n.*1433T>C)
c.1452T>C (p.Asp484=)
 COSMIC COSMIC
Xg.154957152A>TCA414912276F8c.1557T>A (p.Asp519Glu)
c.*1433T>A (n.*1433T>A)
c.1452T>A (p.Asp484Glu)
Xg.154957153T>ACA414912284F8c.1556A>T (p.Asp519Val)
c.*1432A>T (n.*1432A>T)
c.1451A>T (p.Asp484Val)
Xg.154957153T>CCA414912282F8c.1556A>G (p.Asp519Gly)
c.*1432A>G (n.*1432A>G)
c.1451A>G (p.Asp484Gly)
Xg.154957153T>GCA414912280F8c.1556A>C (p.Asp519Ala)
c.*1432A>C (n.*1432A>C)
c.1451A>C (p.Asp484Ala)
Xg.154957153_154957154dupCA2580101847F8c.1555_1556dup (p.Asp519GlufsTer17)
c.*1431_*1432dup (n.*1431_*1432dup)
c.1450_1451dup (p.Asp484GlufsTer17)
 ClinVar
Xg.154957154C>ACA414912287F8c.1555G>T (p.Asp519Tyr)
c.*1431G>T (n.*1431G>T)
c.1450G>T (p.Asp484Tyr)
Xg.154957154C=CA2466845372F8c.1555G= (p.Asp519=)
c.*1431G= (n.*1431G=)
c.1450G= (p.Asp484=)
Xg.154957154C>GCA414912288F8c.1555G>C (p.Asp519His)
c.*1431G>C (n.*1431G>C)
c.1450G>C (p.Asp484His)
Xg.154957154C>TCA10568432F8c.1555G>A (p.Asp519Asn)
c.*1431G>A (n.*1431G>A)
c.1450G>A (p.Asp484Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154957155C>ACA414912293F8c.1554G>T (p.Lys518Asn)
c.*1430G>T (n.*1430G>T)
c.1449G>T (p.Lys483Asn)
Xg.154957155C>GCA414912295F8c.1554G>C (p.Lys518Asn)
c.*1430G>C (n.*1430G>C)
c.1449G>C (p.Lys483Asn)
Xg.154957155C>TCA519359022F8c.1554G>A (p.Lys518=)
c.*1430G>A (n.*1430G>A)
c.1449G>A (p.Lys483=)
Xg.154957156T>ACA414912298F8c.1553A>T (p.Lys518Met)
c.*1429A>T (n.*1429A>T)
c.1448A>T (p.Lys483Met)
Xg.154957156T>CCA414912301F8c.1553A>G (p.Lys518Arg)
c.*1429A>G (n.*1429A>G)
c.1448A>G (p.Lys483Arg)
Xg.154957156T>GCA414912303F8c.1553A>C (p.Lys518Thr)
c.*1429A>C (n.*1429A>C)
c.1448A>C (p.Lys483Thr)
Xg.154957157T>ACA414912306F8c.1552A>T (p.Lys518Ter)
c.*1428A>T (n.*1428A>T)
c.1447A>T (p.Lys483Ter)
Xg.154957157T>CCA414912308F8c.1552A>G (p.Lys518Glu)
c.*1428A>G (n.*1428A>G)
c.1447A>G (p.Lys483Glu)
Xg.154957157T>GCA414912311F8c.1552A>C (p.Lys518Gln)
c.*1428A>C (n.*1428A>C)
c.1447A>C (p.Lys483Gln)
Xg.154957158C>ACA414912320F8c.1551G>T (p.Leu517Phe)
c.*1427G>T (n.*1427G>T)
c.1446G>T (p.Leu482Phe)
 dbSNP
Xg.154957158C=CA2466845373F8c.1551G= (p.Leu517=)
c.*1427G= (n.*1427G=)
c.1446G= (p.Leu482=)
Xg.154957158C>GCA414912321F8c.1551G>C (p.Leu517Phe)
c.*1427G>C (n.*1427G>C)
c.1446G>C (p.Leu482Phe)
Xg.154957158C>TCA519359038F8c.1551G>A (p.Leu517=)
c.*1427G>A (n.*1427G>A)
c.1446G>A (p.Leu482=)
 ClinVar dbSNP
Xg.154957159A=CA2466845374F8c.1550T= (p.Leu517=)
c.*1426T= (n.*1426T=)
c.1445T= (p.Leu482=)
Xg.154957159A>CCA414912335F8c.1550T>G (p.Leu517Trp)
c.*1426T>G (n.*1426T>G)
c.1445T>G (p.Leu482Trp)
 dbSNP
Xg.154957159A>GCA414912323F8c.1550T>C (p.Leu517Ser)
c.*1426T>C (n.*1426T>C)
c.1445T>C (p.Leu482Ser)
Xg.154957159A>TCA414912327F8c.1550T>A (p.Leu517Ter)
c.*1426T>A (n.*1426T>A)
c.1445T>A (p.Leu482Ter)
Xg.154957160A>CCA414912337F8c.1549T>G (p.Leu517Val)
c.*1425T>G (n.*1425T>G)
c.1444T>G (p.Leu482Val)
Xg.154957160A>GCA519359044F8c.1549T>C (p.Leu517=)
c.*1425T>C (n.*1425T>C)
c.1444T>C (p.Leu482=)
Xg.154957160A>TCA414912339F8c.1549T>A (p.Leu517Met)
c.*1425T>A (n.*1425T>A)
c.1444T>A (p.Leu482Met)
Xg.154957161A>CCA414912342F8c.1548T>G (p.His516Gln)
c.*1424T>G (n.*1424T>G)
c.1443T>G (p.His481Gln)
Xg.154957161A>GCA519359051F8c.1548T>C (p.His516=)
c.*1424T>C (n.*1424T>C)
c.1443T>C (p.His481=)
Xg.154957161A>TCA414912345F8c.1548T>A (p.His516Gln)
c.*1424T>A (n.*1424T>A)
c.1443T>A (p.His481Gln)
Xg.154957162T>ACA414912348F8c.1547A>T (p.His516Leu)
c.*1423A>T (n.*1423A>T)
c.1442A>T (p.His481Leu)
Xg.154957162T>CCA414912353F8c.1547A>G (p.His516Arg)
c.*1423A>G (n.*1423A>G)
c.1442A>G (p.His481Arg)
Xg.154957162T>GCA414912355F8c.1547A>C (p.His516Pro)
c.*1423A>C (n.*1423A>C)
c.1442A>C (p.His481Pro)
Xg.154957163G>ACA10568433F8c.1546C>T (p.His516Tyr)
c.*1422C>T (n.*1422C>T)
c.1441C>T (p.His481Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.154957163G>CCA414912358F8c.1546C>G (p.His516Asp)
c.*1422C>G (n.*1422C>G)
c.1441C>G (p.His481Asp)
Xg.154957163G=CA2466845375F8c.1546C= (p.His516=)
c.*1422C= (n.*1422C=)
c.1441C= (p.His481=)
Xg.154957163G>TCA414912360F8c.1546C>A (p.His516Asn)
c.*1422C>A (n.*1422C>A)
c.1441C>A (p.His481Asn)
 COSMIC COSMIC
Xg.154957164_154957182delCA2695237268F8c.1538-10_1546del
c.*1414-10_*1422del
c.1433-10_1441del
Xg.154957164T>ACA414912363F8c.1545A>T (p.Lys515Asn)
c.*1421A>T (n.*1421A>T)
c.1440A>T (p.Lys480Asn)
Xg.154957164T>CCA519359073F8c.1545A>G (p.Lys515=)
c.*1421A>G (n.*1421A>G)
c.1440A>G (p.Lys480=)
Xg.154957164T>GCA414912364F8c.1545A>C (p.Lys515Asn)
c.*1421A>C (n.*1421A>C)
c.1440A>C (p.Lys480Asn)
Xg.154957165T>ACA414912367F8c.1544A>T (p.Lys515Ile)
c.*1420A>T (n.*1420A>T)
c.1439A>T (p.Lys480Ile)
Xg.154957165T>CCA414912372F8c.1544A>G (p.Lys515Arg)
c.*1420A>G (n.*1420A>G)
c.1439A>G (p.Lys480Arg)
Xg.154957165T>GCA414912369F8c.1544A>C (p.Lys515Thr)
c.*1420A>C (n.*1420A>C)
c.1439A>C (p.Lys480Thr)
Xg.154957166T>ACA414912373F8c.1543A>T (p.Lys515Ter)
c.*1419A>T (n.*1419A>T)
c.1438A>T (p.Lys480Ter)
Xg.154957166T>CCA414912376F8c.1543A>G (p.Lys515Glu)
c.*1419A>G (n.*1419A>G)
c.1438A>G (p.Lys480Glu)
Xg.154957166T>GCA414912381F8c.1543A>C (p.Lys515Gln)
c.*1419A>C (n.*1419A>C)
c.1438A>C (p.Lys480Gln)
Xg.154957167T>ACA519359090F8c.1542A>T (p.Val514=)
c.*1418A>T (n.*1418A>T)
c.1437A>T (p.Val479=)
Xg.154957167T>CCA519359098F8c.1542A>G (p.Val514=)
c.*1418A>G (n.*1418A>G)
c.1437A>G (p.Val479=)
 gnomAD v4
Xg.154957167T>GCA519359100F8c.1542A>C (p.Val514=)
c.*1418A>C (n.*1418A>C)
c.1437A>C (p.Val479=)
Xg.154957168A>CCA414912384F8c.1541T>G (p.Val514Gly)
c.*1417T>G (n.*1417T>G)
c.1436T>G (p.Val479Gly)
Xg.154957168A>GCA414912386F8c.1541T>C (p.Val514Ala)
c.*1417T>C (n.*1417T>C)
c.1436T>C (p.Val479Ala)
Xg.154957168A>TCA414912388F8c.1541T>A (p.Val514Glu)
c.*1417T>A (n.*1417T>A)
c.1436T>A (p.Val479Glu)
Xg.154957169C>ACA414912391F8c.1540G>T (p.Val514Leu)
c.*1416G>T (n.*1416G>T)
c.1435G>T (p.Val479Leu)
 COSMIC COSMIC
Xg.154957169C=CA2466845376F8c.1540G= (p.Val514=)
c.*1416G= (n.*1416G=)
c.1435G= (p.Val479=)
Xg.154957169C>GCA414912394F8c.1540G>C (p.Val514Leu)
c.*1416G>C (n.*1416G>C)
c.1435G>C (p.Val479Leu)
Xg.154957169C>TCA10568434F8c.1540G>A (p.Val514Ile)
c.*1416G>A (n.*1416G>A)
c.1435G>A (p.Val479Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154957170A>CCA519359134F8c.1539T>G (p.Gly513=)
c.*1415T>G (n.*1415T>G)
c.1434T>G (p.Gly478=)
Xg.154957170A>GCA519359141F8c.1539T>C (p.Gly513=)
c.*1415T>C (n.*1415T>C)
c.1434T>C (p.Gly478=)
Xg.154957170A>TCA519359138F8c.1539T>A (p.Gly513=)
c.*1415T>A (n.*1415T>A)
c.1434T>A (p.Gly478=)
Xg.154957171C>ACA414912397F8c.1538G>T (p.Gly513Val)
c.*1414G>T (n.*1414G>T)
c.1433G>T (p.Gly478Val)
 dbSNP
Xg.154957171C=CA2466845377F8c.1538G= (p.Gly513=)
c.*1414G= (n.*1414G=)
c.1433G= (p.Gly478=)
Xg.154957171C>GCA414912399F8c.1538G>C (p.Gly513Ala)
c.*1414G>C (n.*1414G>C)
c.1433G>C (p.Gly478Ala)
Xg.154957171C>TCA414912402F8c.1538G>A (p.Gly513Asp)
c.*1414G>A (n.*1414G>A)
c.1433G>A (p.Gly478Asp)
 dbSNP gnomAD v4
Xg.154957172C>ACA414912406F8c.1538-1G>T (n.1538-1G>T)
c.*1414-1G>T (n.*1414-1G>T)
c.1433-1G>T (n.1433-1G>T)
 ClinVar dbSNP
Xg.154957172C=CA2466845378F8c.1538-1G= (n.1538-1G=)
c.*1414-1G= (n.*1414-1G=)
c.1433-1G= (n.1433-1G=)
Xg.154957172C>GCA414912416F8c.1538-1G>C (n.1538-1G>C)
c.*1414-1G>C (n.*1414-1G>C)
c.1433-1G>C (n.1433-1G>C)
Xg.154957172C>TCA414912412F8c.1538-1G>A (n.1538-1G>A)
c.*1414-1G>A (n.*1414-1G>A)
c.1433-1G>A (n.1433-1G>A)
 COSMIC COSMIC
Xg.154957173T>ACA414912419F8c.1538-2A>T (n.1538-2A>T)
c.*1414-2A>T (n.*1414-2A>T)
c.1433-2A>T (n.1433-2A>T)
Xg.154957173T>CCA414912421F8c.1538-2A>G (n.1538-2A>G)
c.*1414-2A>G (n.*1414-2A>G)
c.1433-2A>G (n.1433-2A>G)
Xg.154957173T>GCA414912425F8c.1538-2A>C (n.1538-2A>C)
c.*1414-2A>C (n.*1414-2A>C)
c.1433-2A>C (n.1433-2A>C)
Xg.154957174A>CCA2695237269F8c.1538-3T>G (n.1538-3T>G)
c.*1414-3T>G (n.*1414-3T>G)
c.1433-3T>G (n.1433-3T>G)
Xg.154957175C>ACA2579744708F8c.1538-4G>T (n.1538-4G>T)
c.*1414-4G>T (n.*1414-4G>T)
c.1433-4G>T (n.1433-4G>T)
Xg.154957177delCA2579744707F8c.1538-4del (n.1538-4del)
c.*1414-4del (n.*1414-4del)
c.1433-4del (n.1433-4del)
Xg.154957176C=CA2466845379F8c.1538-5G= (n.1538-5G=)
c.*1414-5G= (n.*1414-5G=)
c.1433-5G= (n.1433-5G=)
Xg.154957176C>GCA2695169175F8c.1538-5G>C (n.1538-5G>C)
c.*1414-5G>C (n.*1414-5G>C)
c.1433-5G>C (n.1433-5G>C)
 gnomAD v4
Xg.154957176C>TCA10568435F8c.1538-5G>A (n.1538-5G>A)
c.*1414-5G>A (n.*1414-5G>A)
c.1433-5G>A (n.1433-5G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154957177C>ACA2695169176F8c.1538-6G>T (n.1538-6G>T)
c.*1414-6G>T (n.*1414-6G>T)
c.1433-6G>T (n.1433-6G>T)
 gnomAD v4
Xg.154957177C=CA2466845380F8c.1538-6G= (n.1538-6G=)
c.*1414-6G= (n.*1414-6G=)
c.1433-6G= (n.1433-6G=)
Xg.154957177C>TCA873354090F8c.1538-6G>A (n.1538-6G>A)
c.*1414-6G>A (n.*1414-6G>A)
c.1433-6G>A (n.1433-6G>A)
 dbSNP
Xg.154957178A=CA2466845381F8c.1538-7T= (n.1538-7T=)
c.*1414-7T= (n.*1414-7T=)
c.1433-7T= (n.1433-7T=)
Xg.154957178A>GCA2466845382F8c.1538-7T>C (n.1538-7T>C)
c.*1414-7T>C (n.*1414-7T>C)
c.1433-7T>C (n.1433-7T>C)
 dbSNP gnomAD v4
Xg.154957179C>GCA2695169177F8c.1538-8G>C (n.1538-8G>C)
c.*1414-8G>C (n.*1414-8G>C)
c.1433-8G>C (n.1433-8G>C)
 gnomAD v4
Xg.154957179C>TCA2695169178F8c.1538-8G>A (n.1538-8G>A)
c.*1414-8G>A (n.*1414-8G>A)
c.1433-8G>A (n.1433-8G>A)
 gnomAD v4
Xg.154957180A>GCA2695169179F8c.1538-9T>C (n.1538-9T>C)
c.*1414-9T>C (n.*1414-9T>C)
c.1433-9T>C (n.1433-9T>C)
 gnomAD v4
Xg.154957182G>ACA645292821F8c.1538-11C>T (n.1538-11C>T)
c.*1414-11C>T (n.*1414-11C>T)
c.1433-11C>T (n.1433-11C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154957182G=CA2466845383F8c.1538-11C= (n.1538-11C=)
c.*1414-11C= (n.*1414-11C=)
c.1433-11C= (n.1433-11C=)
Xg.154957182G>TCA2695169180F8c.1538-11C>A (n.1538-11C>A)
c.*1414-11C>A (n.*1414-11C>A)
c.1433-11C>A (n.1433-11C>A)
 gnomAD v4

Number of alleles fetched