Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154957069C>ACA414911866F8c.1640G>T (p.Cys547Phe)
c.*1516G>T (n.*1516G>T)
c.1535G>T (p.Cys512Phe)
dbSNP
Xg.154957069C=CA2466845347F8c.1640G= (p.Cys547=)
c.*1516G= (n.*1516G=)
c.1535G= (p.Cys512=)
Xg.154957069C>GCA414911869F8c.1640G>C (p.Cys547Ser)
c.*1516G>C (n.*1516G>C)
c.1535G>C (p.Cys512Ser)
Xg.154957069C>TCA414911871F8c.1640G>A (p.Cys547Tyr)
c.*1516G>A (n.*1516G>A)
c.1535G>A (p.Cys512Tyr)
dbSNP
Xg.154957070A=CA2466845348F8c.1639T= (p.Cys547=)
c.*1515T= (n.*1515T=)
c.1534T= (p.Cys512=)
Xg.154957070A>CCA414911873F8c.1639T>G (p.Cys547Gly)
c.*1515T>G (n.*1515T>G)
c.1534T>G (p.Cys512Gly)
Xg.154957070A>GCA414911874F8c.1639T>C (p.Cys547Arg)
c.*1515T>C (n.*1515T>C)
c.1534T>C (p.Cys512Arg)
ClinVar dbSNP
Xg.154957070A>TCA10568426F8c.1639T>A (p.Cys547Ser)
c.*1515T>A (n.*1515T>A)
c.1534T>A (p.Cys512Ser)
dbSNP ExAC
Xg.154957071C>ACA519358649F8c.1638G>T (p.Arg546=)
c.*1514G>T (n.*1514G>T)
c.1533G>T (p.Arg511=)
Xg.154957071C=CA2466845349F8c.1638G= (p.Arg546=)
c.*1514G= (n.*1514G=)
c.1533G= (p.Arg511=)
Xg.154957071C>GCA519358650F8c.1638G>C (p.Arg546=)
c.*1514G>C (n.*1514G>C)
c.1533G>C (p.Arg511=)
COSMIC COSMIC
Xg.154957071C>TCA519358653F8c.1638G>A (p.Arg546=)
c.*1514G>A (n.*1514G>A)
c.1533G>A (p.Arg511=)
dbSNP gnomAD v2 gnomAD v4
Xg.154957072C>ACA414911876F8c.1637G>T (p.Arg546Leu)
c.*1513G>T (n.*1513G>T)
c.1532G>T (p.Arg511Leu)
Xg.154957072C=CA2466845350F8c.1637G= (p.Arg546=)
c.*1513G= (n.*1513G=)
c.1532G= (p.Arg511=)
Xg.154957072C>GCA414911879F8c.1637G>C (p.Arg546Pro)
c.*1513G>C (n.*1513G>C)
c.1532G>C (p.Arg511Pro)
Xg.154957072C>TCA10568427F8c.1637G>A (p.Arg546Gln)
c.*1513G>A (n.*1513G>A)
c.1532G>A (p.Arg511Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
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)

Number of alleles fetched