Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154957080T>ACA519358683F8c.1629A>T (p.Ser543=)
c.*1505A>T (n.*1505A>T)
c.1524A>T (p.Ser508=)
Xg.154957080T>CCA519358684F8c.1629A>G (p.Ser543=)
c.*1505A>G (n.*1505A>G)
c.1524A>G (p.Ser508=)
Xg.154957080T>GCA519358687F8c.1629A>C (p.Ser543=)
c.*1505A>C (n.*1505A>C)
c.1524A>C (p.Ser508=)
Xg.154957081_154957084dupCA2695237259F8c.1626_1629dup (p.Asp544IlefsTer12)
c.*1502_*1505dup (n.*1502_*1505dup)
c.1521_1524dup (p.Asp509IlefsTer12)
Xg.154957081G>ACA414911906F8c.1628C>T (p.Ser543Leu)
c.*1504C>T (n.*1504C>T)
c.1523C>T (p.Ser508Leu)
 gnomAD v4
Xg.154957081G>CCA414911908F8c.1628C>G (p.Ser543Ter)
c.*1504C>G (n.*1504C>G)
c.1523C>G (p.Ser508Ter)
Xg.154957081G>TCA414911907F8c.1628C>A (p.Ser543Ter)
c.*1504C>A (n.*1504C>A)
c.1523C>A (p.Ser508Ter)
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)

Number of alleles fetched