Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154956973T>ACA414911637F8c.1736A>T (p.Asp579Val)
c.*1612A>T (n.*1612A>T)
c.1631A>T (p.Asp544Val)
Xg.154956973T>CCA414911638F8c.1736A>G (p.Asp579Gly)
c.*1612A>G (n.*1612A>G)
c.1631A>G (p.Asp544Gly)
Xg.154956973T>GCA414911639F8c.1736A>C (p.Asp579Ala)
c.*1612A>C (n.*1612A>C)
c.1631A>C (p.Asp544Ala)
Xg.154956974C>ACA414911640F8c.1735G>T (p.Asp579Tyr)
c.*1611G>T (n.*1611G>T)
c.1630G>T (p.Asp544Tyr)
Xg.154956974C>GCA414911641F8c.1735G>C (p.Asp579His)
c.*1611G>C (n.*1611G>C)
c.1630G>C (p.Asp544His)
Xg.154956974C>TCA414911642F8c.1735G>A (p.Asp579Asn)
c.*1611G>A (n.*1611G>A)
c.1630G>A (p.Asp544Asn)
Xg.154956975T>ACA519358260F8c.1734A>T (p.Val578=)
c.*1610A>T (n.*1610A>T)
c.1629A>T (p.Val543=)
Xg.154956975T>CCA519358262F8c.1734A>G (p.Val578=)
c.*1610A>G (n.*1610A>G)
c.1629A>G (p.Val543=)
Xg.154956975T>GCA519358264F8c.1734A>C (p.Val578=)
c.*1610A>C (n.*1610A>C)
c.1629A>C (p.Val543=)
Xg.154956975_154956977delinsTACCA2466845305F8c.1732_1734delinsGTA (p.Val578=)
c.*1608_*1610delinsGTA (n.*1608_*1610delinsGTA)
c.1627_1629delinsGTA (p.Val543=)
Xg.154956976A>CCA414911643F8c.1733T>G (p.Val578Gly)
c.*1609T>G (n.*1609T>G)
c.1628T>G (p.Val543Gly)
Xg.154956976A>GCA414911645F8c.1733T>C (p.Val578Ala)
c.*1609T>C (n.*1609T>C)
c.1628T>C (p.Val543Ala)
Xg.154956976A>TCA414911644F8c.1733T>A (p.Val578Glu)
c.*1609T>A (n.*1609T>A)
c.1628T>A (p.Val543Glu)
Xg.154956977_154956978delCA2466845306F8c.1732_1733del (p.Val578ArgfsTer21)
c.*1608_*1609del (n.*1608_*1609del)
c.1627_1628del (p.Val543ArgfsTer21)
dbSNP
Xg.154956977C>ACA10568416F8c.1732G>T (p.Val578Leu)
c.*1608G>T (n.*1608G>T)
c.1627G>T (p.Val543Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154956977C=CA2466845307F8c.1732G= (p.Val578=)
c.*1608G= (n.*1608G=)
c.1627G= (p.Val543=)
Xg.154956977C>GCA414911647F8c.1732G>C (p.Val578Leu)
c.*1608G>C (n.*1608G>C)
c.1627G>C (p.Val543Leu)
Xg.154956977C>TCA414911646F8c.1732G>A (p.Val578Ile)
c.*1608G>A (n.*1608G>A)
c.1627G>A (p.Val543Ile)
Xg.154956978A>CCA519358274F8c.1731T>G (p.Ser577=)
c.*1607T>G (n.*1607T>G)
c.1626T>G (p.Ser542=)
Xg.154956978A>GCA519358276F8c.1731T>C (p.Ser577=)
c.*1607T>C (n.*1607T>C)
c.1626T>C (p.Ser542=)
Xg.154956978A>TCA519358278F8c.1731T>A (p.Ser577=)
c.*1607T>A (n.*1607T>A)
c.1626T>A (p.Ser542=)
Xg.154956979G>ACA255120F8c.1730C>T (p.Ser577Phe)
c.*1606C>T (n.*1606C>T)
c.1625C>T (p.Ser542Phe)
ClinVar dbSNP COSMIC COSMIC
Xg.154956979G>CCA414911648F8c.1730C>G (p.Ser577Cys)
c.*1606C>G (n.*1606C>G)
c.1625C>G (p.Ser542Cys)
Xg.154956979G=CA2466845308F8c.1730C= (p.Ser577=)
c.*1606C= (n.*1606C=)
c.1625C= (p.Ser542=)
Xg.154956979G>TCA414911649F8c.1730C>A (p.Ser577Tyr)
c.*1606C>A (n.*1606C>A)
c.1625C>A (p.Ser542Tyr)
COSMIC COSMIC
Xg.154956980A=CA2466845309F8c.1729T= (p.Ser577=)
c.*1605T= (n.*1605T=)
c.1624T= (p.Ser542=)
Xg.154956980A>CCA414911650F8c.1729T>G (p.Ser577Ala)
c.*1605T>G (n.*1605T>G)
c.1624T>G (p.Ser542Ala)
Xg.154956980A>GCA255122F8c.1729T>C (p.Ser577Pro)
c.*1605T>C (n.*1605T>C)
c.1624T>C (p.Ser542Pro)
ClinVar dbSNP
Xg.154956980A>TCA414911651F8c.1729T>A (p.Ser577Thr)
c.*1605T>A (n.*1605T>A)
c.1624T>A (p.Ser542Thr)
Xg.154956981T>ACA414911652F8c.1728A>T (p.Glu576Asp)
c.*1604A>T (n.*1604A>T)
c.1623A>T (p.Glu541Asp)
Xg.154956981T>CCA519358288F8c.1728A>G (p.Glu576=)
c.*1604A>G (n.*1604A>G)
c.1623A>G (p.Glu541=)
Xg.154956981T>GCA414911653F8c.1728A>C (p.Glu576Asp)
c.*1604A>C (n.*1604A>C)
c.1623A>C (p.Glu541Asp)
Xg.154956982T>ACA414911654F8c.1727A>T (p.Glu576Val)
c.*1603A>T (n.*1603A>T)
c.1622A>T (p.Glu541Val)
ClinVar
Xg.154956982T>CCA414911655F8c.1727A>G (p.Glu576Gly)
c.*1603A>G (n.*1603A>G)
c.1622A>G (p.Glu541Gly)
Xg.154956982T>GCA414911656F8c.1727A>C (p.Glu576Ala)
c.*1603A>C (n.*1603A>C)
c.1622A>C (p.Glu541Ala)
Xg.154956983C>ACA255118F8c.1726G>T (p.Glu576Ter)
c.*1602G>T (n.*1602G>T)
c.1621G>T (p.Glu541Ter)
ClinVar dbSNP COSMIC COSMIC
Xg.154956983C=CA2466845310F8c.1726G= (p.Glu576=)
c.*1602G= (n.*1602G=)
c.1621G= (p.Glu541=)
Xg.154956983C>GCA414911657F8c.1726G>C (p.Glu576Gln)
c.*1602G>C (n.*1602G>C)
c.1621G>C (p.Glu541Gln)
Xg.154956983C>TCA414911658F8c.1726G>A (p.Glu576Lys)
c.*1602G>A (n.*1602G>A)
c.1621G>A (p.Glu541Lys)
Xg.154956984T>ACA414911659F8c.1725A>T (p.Lys575Asn)
c.*1601A>T (n.*1601A>T)
c.1620A>T (p.Lys540Asn)
Xg.154956984T>CCA519358300F8c.1725A>G (p.Lys575=)
c.*1601A>G (n.*1601A>G)
c.1620A>G (p.Lys540=)
Xg.154956984T>GCA414911660F8c.1725A>C (p.Lys575Asn)
c.*1601A>C (n.*1601A>C)
c.1620A>C (p.Lys540Asn)
Xg.154956985T>ACA414911661F8c.1724A>T (p.Lys575Ile)
c.*1600A>T (n.*1600A>T)
c.1619A>T (p.Lys540Ile)
Xg.154956985T>CCA414911662F8c.1724A>G (p.Lys575Arg)
c.*1600A>G (n.*1600A>G)
c.1619A>G (p.Lys540Arg)
gnomAD v4
Xg.154956985T>GCA414911663F8c.1724A>C (p.Lys575Thr)
c.*1600A>C (n.*1600A>C)
c.1619A>C (p.Lys540Thr)
ClinVar dbSNP gnomAD v4
Xg.154956985T=CA2466845311F8c.1724A= (p.Lys575=)
c.*1600A= (n.*1600A=)
c.1619A= (p.Lys540=)
Xg.154956986T>ACA414911664F8c.1723A>T (p.Lys575Ter)
c.*1599A>T (n.*1599A>T)
c.1618A>T (p.Lys540Ter)
Xg.154956986T>CCA414911665F8c.1723A>G (p.Lys575Glu)
c.*1599A>G (n.*1599A>G)
c.1618A>G (p.Lys540Glu)
Xg.154956986T>GCA414911666F8c.1723A>C (p.Lys575Gln)
c.*1599A>C (n.*1599A>C)
c.1618A>C (p.Lys540Gln)
Xg.154956987G>ACA519358310F8c.1722C>T (p.Tyr574=)
c.*1598C>T (n.*1598C>T)
c.1617C>T (p.Tyr539=)

Number of alleles fetched