Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154957073G>ACA255112F8c.1636C>T (p.Arg546Trp)
c.*1512C>T (n.*1512C>T)
c.1531C>T (p.Arg511Trp)
ClinVar dbSNP gnomAD v4
Xg.154957073G>CCA414911881F8c.1636C>G (p.Arg546Gly)
c.*1512C>G (n.*1512C>G)
c.1531C>G (p.Arg511Gly)
Xg.154957073G=CA2466845351F8c.1636C= (p.Arg546=)
c.*1512C= (n.*1512C=)
c.1531C= (p.Arg511=)
Xg.154957073G>TCA519358660F8c.1636C>A (p.Arg546=)
c.*1512C>A (n.*1512C>A)
c.1531C>A (p.Arg511=)
dbSNP gnomAD v4
Xg.154957074A>CCA519358665F8c.1635T>G (p.Pro545=)
c.*1511T>G (n.*1511T>G)
c.1530T>G (p.Pro510=)
Xg.154957074A>GCA519358663F8c.1635T>C (p.Pro545=)
c.*1511T>C (n.*1511T>C)
c.1530T>C (p.Pro510=)
Xg.154957074A>TCA519358661F8c.1635T>A (p.Pro545=)
c.*1511T>A (n.*1511T>A)
c.1530T>A (p.Pro510=)
COSMIC COSMIC
Xg.154957075G>ACA414911884F8c.1634C>T (p.Pro545Leu)
c.*1510C>T (n.*1510C>T)
c.1529C>T (p.Pro510Leu)
Xg.154957075G>CCA414911889F8c.1634C>G (p.Pro545Arg)
c.*1510C>G (n.*1510C>G)
c.1529C>G (p.Pro510Arg)
Xg.154957075G>TCA414911891F8c.1634C>A (p.Pro545His)
c.*1510C>A (n.*1510C>A)
c.1529C>A (p.Pro510His)
Xg.154957076delCA2695237257F8c.1634del (p.Pro545LeufsTer4)
c.*1510del (n.*1510del)
c.1529del (p.Pro510LeufsTer4)
Xg.154957076G>ACA414911893F8c.1633C>T (p.Pro545Ser)
c.*1509C>T (n.*1509C>T)
c.1528C>T (p.Pro510Ser)
Xg.154957076G>CCA414911894F8c.1633C>G (p.Pro545Ala)
c.*1509C>G (n.*1509C>G)
c.1528C>G (p.Pro510Ala)
Xg.154957076G>TCA414911896F8c.1633C>A (p.Pro545Thr)
c.*1509C>A (n.*1509C>A)
c.1528C>A (p.Pro510Thr)
Xg.154957077A>CCA414911898F8c.1632T>G (p.Asp544Glu)
c.*1508T>G (n.*1508T>G)
c.1527T>G (p.Asp509Glu)
Xg.154957077A>GCA519358672F8c.1632T>C (p.Asp544=)
c.*1508T>C (n.*1508T>C)
c.1527T>C (p.Asp509=)
Xg.154957077A>TCA414911899F8c.1632T>A (p.Asp544Glu)
c.*1508T>A (n.*1508T>A)
c.1527T>A (p.Asp509Glu)
Xg.154957077_154957078delCA2695237258F8c.1631_1632del (p.Asp544AlafsTer10)
c.*1507_*1508del (n.*1507_*1508del)
c.1526_1527del (p.Asp509AlafsTer10)
Xg.154957078T>ACA414911901F8c.1631A>T (p.Asp544Val)
c.*1507A>T (n.*1507A>T)
c.1526A>T (p.Asp509Val)
dbSNP
Xg.154957078T>CCA414911903F8c.1631A>G (p.Asp544Gly)
c.*1507A>G (n.*1507A>G)
c.1526A>G (p.Asp509Gly)
Xg.154957078T>GCA414911902F8c.1631A>C (p.Asp544Ala)
c.*1507A>C (n.*1507A>C)
c.1526A>C (p.Asp509Ala)
Xg.154957078T=CA2466845352F8c.1631A= (p.Asp544=)
c.*1507A= (n.*1507A=)
c.1526A= (p.Asp509=)
Xg.154957079C>ACA414911904F8c.1630G>T (p.Asp544Tyr)
c.*1506G>T (n.*1506G>T)
c.1525G>T (p.Asp509Tyr)
Xg.154957079C=CA2466845353F8c.1630G= (p.Asp544=)
c.*1506G= (n.*1506G=)
c.1525G= (p.Asp509=)
Xg.154957079C>GCA414911905F8c.1630G>C (p.Asp544His)
c.*1506G>C (n.*1506G>C)
c.1525G>C (p.Asp509His)
Xg.154957079C>TCA255111F8c.1630G>A (p.Asp544Asn)
c.*1506G>A (n.*1506G>A)
c.1525G>A (p.Asp509Asn)
ClinVar dbSNP
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)

Number of alleles fetched