Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.115753144A>GCA1843052DPP10c.930-30A>G (p.=)
c.963-30A>G (p.=)
c.801-30A>G (p.=)
c.939-30A>G (p.=)
c.951-30A>G (p.=)
c.699-30A>G (p.=)
n.67+1591T>C
c.1002-30A>G (p.=)
c.861-30A>G (p.=)
c.834-30A>G (p.=)
c.189-30A>G (p.=)
c.828-30A>G (p.=)
dbSNP ExAC gnomAD
2g.115753145C>ACA535260686DPP10c.930-29C>A (p.=)
c.963-29C>A (p.=)
c.801-29C>A (p.=)
c.939-29C>A (p.=)
c.951-29C>A (p.=)
c.699-29C>A (p.=)
n.67+1590G>T
c.1002-29C>A (p.=)
c.861-29C>A (p.=)
c.834-29C>A (p.=)
c.189-29C>A (p.=)
c.828-29C>A (p.=)
gnomAD
2g.115753147T>CCA535260687DPP10c.930-27T>C (p.=)
c.963-27T>C (p.=)
c.801-27T>C (p.=)
c.939-27T>C (p.=)
c.951-27T>C (p.=)
c.699-27T>C (p.=)
n.67+1588A>G
c.1002-27T>C (p.=)
c.861-27T>C (p.=)
c.834-27T>C (p.=)
c.189-27T>C (p.=)
c.828-27T>C (p.=)
gnomAD
2g.115753148A>GCA535260688DPP10c.930-26A>G (p.=)
c.963-26A>G (p.=)
c.801-26A>G (p.=)
c.939-26A>G (p.=)
c.951-26A>G (p.=)
c.699-26A>G (p.=)
n.67+1587T>C
c.1002-26A>G (p.=)
c.861-26A>G (p.=)
c.834-26A>G (p.=)
c.189-26A>G (p.=)
c.828-26A>G (p.=)
gnomAD
2g.115753149C>TCA1843053DPP10c.930-25C>T (p.=)
c.963-25C>T (p.=)
c.801-25C>T (p.=)
c.939-25C>T (p.=)
c.951-25C>T (p.=)
c.699-25C>T (p.=)
n.67+1586G>A
c.1002-25C>T (p.=)
c.861-25C>T (p.=)
c.834-25C>T (p.=)
c.189-25C>T (p.=)
c.828-25C>T (p.=)
dbSNP ExAC gnomAD
2g.115753152T>ACA54497525DPP10c.930-22T>A (p.=)
c.963-22T>A (p.=)
c.801-22T>A (p.=)
c.939-22T>A (p.=)
c.951-22T>A (p.=)
c.699-22T>A (p.=)
n.67+1583A>T
c.1002-22T>A (p.=)
c.861-22T>A (p.=)
c.834-22T>A (p.=)
c.189-22T>A (p.=)
c.828-22T>A (p.=)
dbSNP
2g.115753153T>CCA755535827DPP10c.930-21T>C (p.=)
c.963-21T>C (p.=)
c.801-21T>C (p.=)
c.939-21T>C (p.=)
c.951-21T>C (p.=)
c.699-21T>C (p.=)
n.67+1582A>G
c.1002-21T>C (p.=)
c.861-21T>C (p.=)
c.834-21T>C (p.=)
c.189-21T>C (p.=)
c.828-21T>C (p.=)
2g.115753155A>GCA1843054DPP10c.930-19A>G (p.=)
c.963-19A>G (p.=)
c.801-19A>G (p.=)
c.939-19A>G (p.=)
c.951-19A>G (p.=)
c.699-19A>G (p.=)
n.67+1580T>C
c.1002-19A>G (p.=)
c.861-19A>G (p.=)
c.834-19A>G (p.=)
c.189-19A>G (p.=)
c.828-19A>G (p.=)
dbSNP ExAC gnomAD
2g.115753157T>GCA1843055DPP10c.930-17T>G (p.=)
c.963-17T>G (p.=)
c.801-17T>G (p.=)
c.939-17T>G (p.=)
c.951-17T>G (p.=)
c.699-17T>G (p.=)
n.67+1578A>C
c.1002-17T>G (p.=)
c.861-17T>G (p.=)
c.834-17T>G (p.=)
c.189-17T>G (p.=)
c.828-17T>G (p.=)
dbSNP ExAC gnomAD
2g.115753159T>ACA535260691DPP10c.930-15T>A (p.=)
c.963-15T>A (p.=)
c.801-15T>A (p.=)
c.939-15T>A (p.=)
c.951-15T>A (p.=)
c.699-15T>A (p.=)
n.67+1576A>T
c.1002-15T>A (p.=)
c.861-15T>A (p.=)
c.834-15T>A (p.=)
c.189-15T>A (p.=)
c.828-15T>A (p.=)
gnomAD
2g.115753162T>CCA54497534DPP10c.930-12T>C (p.=)
c.963-12T>C (p.=)
c.801-12T>C (p.=)
c.939-12T>C (p.=)
c.951-12T>C (p.=)
c.699-12T>C (p.=)
n.67+1573A>G
c.1002-12T>C (p.=)
c.861-12T>C (p.=)
c.834-12T>C (p.=)
c.189-12T>C (p.=)
c.828-12T>C (p.=)
dbSNP gnomAD
2g.115753164T>CCA535260692DPP10c.930-10T>C (p.=)
c.963-10T>C (p.=)
c.801-10T>C (p.=)
c.939-10T>C (p.=)
c.951-10T>C (p.=)
c.699-10T>C (p.=)
n.67+1571A>G
c.1002-10T>C (p.=)
c.861-10T>C (p.=)
c.834-10T>C (p.=)
c.189-10T>C (p.=)
c.828-10T>C (p.=)
gnomAD
2g.115753167A>GCA645521245DPP10c.930-7A>G (p.=)
c.963-7A>G (p.=)
c.801-7A>G (p.=)
c.939-7A>G (p.=)
c.951-7A>G (p.=)
c.699-7A>G (p.=)
n.67+1568T>C
c.1002-7A>G (p.=)
c.861-7A>G (p.=)
c.834-7A>G (p.=)
c.189-7A>G (p.=)
c.828-7A>G (p.=)
COSMIC COSMIC
2g.115753168A>GCA535260694DPP10c.930-6A>G (p.=)
c.963-6A>G (p.=)
c.801-6A>G (p.=)
c.939-6A>G (p.=)
c.951-6A>G (p.=)
c.699-6A>G (p.=)
n.67+1567T>C
c.1002-6A>G (p.=)
c.861-6A>G (p.=)
c.834-6A>G (p.=)
c.189-6A>G (p.=)
c.828-6A>G (p.=)
gnomAD
2g.115753172A>CCA348323355DPP10c.930-2A>C (p.=)
c.963-2A>C (p.=)
c.801-2A>C (p.=)
c.939-2A>C (p.=)
c.951-2A>C (p.=)
c.699-2A>C (p.=)
n.67+1563T>G
c.1002-2A>C (p.=)
c.861-2A>C (p.=)
c.834-2A>C (p.=)
c.189-2A>C (p.=)
c.828-2A>C (p.=)
2g.115753172A>GCA348323356DPP10c.930-2A>G (p.=)
c.963-2A>G (p.=)
c.801-2A>G (p.=)
c.939-2A>G (p.=)
c.951-2A>G (p.=)
c.699-2A>G (p.=)
n.67+1563T>C
c.1002-2A>G (p.=)
c.861-2A>G (p.=)
c.834-2A>G (p.=)
c.189-2A>G (p.=)
c.828-2A>G (p.=)
2g.115753172A>TCA348323357DPP10c.930-2A>T (p.=)
c.963-2A>T (p.=)
c.801-2A>T (p.=)
c.939-2A>T (p.=)
c.951-2A>T (p.=)
c.699-2A>T (p.=)
n.67+1563T>A
c.1002-2A>T (p.=)
c.861-2A>T (p.=)
c.834-2A>T (p.=)
c.189-2A>T (p.=)
c.828-2A>T (p.=)
2g.115753173G>ACA348323358DPP10c.930-1G>A (p.=)
c.963-1G>A (p.=)
c.801-1G>A (p.=)
c.939-1G>A (p.=)
c.951-1G>A (p.=)
c.699-1G>A (p.=)
n.67+1562C>T
c.1002-1G>A (p.=)
c.861-1G>A (p.=)
c.834-1G>A (p.=)
c.189-1G>A (p.=)
c.828-1G>A (p.=)
2g.115753173G>CCA348323360DPP10c.930-1G>C (p.=)
c.963-1G>C (p.=)
c.801-1G>C (p.=)
c.939-1G>C (p.=)
c.951-1G>C (p.=)
c.699-1G>C (p.=)
n.67+1562C>G
c.1002-1G>C (p.=)
c.861-1G>C (p.=)
c.834-1G>C (p.=)
c.189-1G>C (p.=)
c.828-1G>C (p.=)
2g.115753173G>TCA348323359DPP10c.930-1G>T (p.=)
c.963-1G>T (p.=)
c.801-1G>T (p.=)
c.939-1G>T (p.=)
c.951-1G>T (p.=)
c.699-1G>T (p.=)
n.67+1562C>A
c.1002-1G>T (p.=)
c.861-1G>T (p.=)
c.834-1G>T (p.=)
c.189-1G>T (p.=)
c.828-1G>T (p.=)
2g.115753174A>CCA348323361DPP10c.930A>C (p.Arg310Ser)
c.963A>C (p.Arg321Ser)
c.801A>C (p.Arg267Ser)
c.939A>C (p.Arg313Ser)
c.951A>C (p.Arg317Ser)
c.699A>C (p.Arg233Ser)
n.67+1561T>G
c.1002A>C (p.Arg334Ser)
c.861A>C (p.Arg287Ser)
c.834A>C (p.Arg278Ser)
c.189A>C (p.Arg63Ser)
c.828A>C (p.Arg276Ser)
2g.115753174A>GCA428354134DPP10c.930A>G (p.Arg310=)
c.963A>G (p.Arg321=)
c.801A>G (p.Arg267=)
c.939A>G (p.Arg313=)
c.951A>G (p.Arg317=)
c.699A>G (p.Arg233=)
n.67+1561T>C
c.1002A>G (p.Arg334=)
c.861A>G (p.Arg287=)
c.834A>G (p.Arg278=)
c.189A>G (p.Arg63=)
c.828A>G (p.Arg276=)
COSMIC COSMIC
2g.115753174A>TCA348323362DPP10c.930A>T (p.Arg310Ser)
c.963A>T (p.Arg321Ser)
c.801A>T (p.Arg267Ser)
c.939A>T (p.Arg313Ser)
c.951A>T (p.Arg317Ser)
c.699A>T (p.Arg233Ser)
n.67+1561T>A
c.1002A>T (p.Arg334Ser)
c.861A>T (p.Arg287Ser)
c.834A>T (p.Arg278Ser)
c.189A>T (p.Arg63Ser)
c.828A>T (p.Arg276Ser)
2g.115753175G>ACA348323363DPP10c.931G>A (p.Glu311Lys)
c.964G>A (p.Glu322Lys)
c.802G>A (p.Glu268Lys)
c.940G>A (p.Glu314Lys)
c.952G>A (p.Glu318Lys)
c.700G>A (p.Glu234Lys)
n.67+1560C>T
c.1003G>A (p.Glu335Lys)
c.862G>A (p.Glu288Lys)
c.835G>A (p.Glu279Lys)
c.190G>A (p.Glu64Lys)
c.829G>A (p.Glu277Lys)
2g.115753175G>CCA348323365DPP10c.931G>C (p.Glu311Gln)
c.964G>C (p.Glu322Gln)
c.802G>C (p.Glu268Gln)
c.940G>C (p.Glu314Gln)
c.952G>C (p.Glu318Gln)
c.700G>C (p.Glu234Gln)
n.67+1560C>G
c.1003G>C (p.Glu335Gln)
c.862G>C (p.Glu288Gln)
c.835G>C (p.Glu279Gln)
c.190G>C (p.Glu64Gln)
c.829G>C (p.Glu277Gln)
2g.115753175G>TCA348323364DPP10c.931G>T (p.Glu311Ter)
c.964G>T (p.Glu322Ter)
c.802G>T (p.Glu268Ter)
c.940G>T (p.Glu314Ter)
c.952G>T (p.Glu318Ter)
c.700G>T (p.Glu234Ter)
n.67+1560C>A
c.1003G>T (p.Glu335Ter)
c.862G>T (p.Glu288Ter)
c.835G>T (p.Glu279Ter)
c.190G>T (p.Glu64Ter)
c.829G>T (p.Glu277Ter)
COSMIC COSMIC
2g.115753176A>CCA348323366DPP10c.932A>C (p.Glu311Ala)
c.965A>C (p.Glu322Ala)
c.803A>C (p.Glu268Ala)
c.941A>C (p.Glu314Ala)
c.953A>C (p.Glu318Ala)
c.701A>C (p.Glu234Ala)
n.67+1559T>G
c.1004A>C (p.Glu335Ala)
c.863A>C (p.Glu288Ala)
c.836A>C (p.Glu279Ala)
c.191A>C (p.Glu64Ala)
c.830A>C (p.Glu277Ala)
2g.115753176A>GCA348323367DPP10c.932A>G (p.Glu311Gly)
c.965A>G (p.Glu322Gly)
c.803A>G (p.Glu268Gly)
c.941A>G (p.Glu314Gly)
c.953A>G (p.Glu318Gly)
c.701A>G (p.Glu234Gly)
n.67+1559T>C
c.1004A>G (p.Glu335Gly)
c.863A>G (p.Glu288Gly)
c.836A>G (p.Glu279Gly)
c.191A>G (p.Glu64Gly)
c.830A>G (p.Glu277Gly)
2g.115753176A>TCA348323368DPP10c.932A>T (p.Glu311Val)
c.965A>T (p.Glu322Val)
c.803A>T (p.Glu268Val)
c.941A>T (p.Glu314Val)
c.953A>T (p.Glu318Val)
c.701A>T (p.Glu234Val)
n.67+1559T>A
c.1004A>T (p.Glu335Val)
c.863A>T (p.Glu288Val)
c.836A>T (p.Glu279Val)
c.191A>T (p.Glu64Val)
c.830A>T (p.Glu277Val)
2g.115753177A>CCA348323369DPP10c.933A>C (p.Glu311Asp)
c.966A>C (p.Glu322Asp)
c.804A>C (p.Glu268Asp)
c.942A>C (p.Glu314Asp)
c.954A>C (p.Glu318Asp)
c.702A>C (p.Glu234Asp)
n.67+1558T>G
c.1005A>C (p.Glu335Asp)
c.864A>C (p.Glu288Asp)
c.837A>C (p.Glu279Asp)
c.192A>C (p.Glu64Asp)
c.831A>C (p.Glu277Asp)
2g.115753177A>GCA428354166DPP10c.933A>G (p.Glu311=)
c.966A>G (p.Glu322=)
c.804A>G (p.Glu268=)
c.942A>G (p.Glu314=)
c.954A>G (p.Glu318=)
c.702A>G (p.Glu234=)
n.67+1558T>C
c.1005A>G (p.Glu335=)
c.864A>G (p.Glu288=)
c.837A>G (p.Glu279=)
c.192A>G (p.Glu64=)
c.831A>G (p.Glu277=)
2g.115753177A>TCA348323370DPP10c.933A>T (p.Glu311Asp)
c.966A>T (p.Glu322Asp)
c.804A>T (p.Glu268Asp)
c.942A>T (p.Glu314Asp)
c.954A>T (p.Glu318Asp)
c.702A>T (p.Glu234Asp)
n.67+1558T>A
c.1005A>T (p.Glu335Asp)
c.864A>T (p.Glu288Asp)
c.837A>T (p.Glu279Asp)
c.192A>T (p.Glu64Asp)
c.831A>T (p.Glu277Asp)
2g.115753178T>ACA348323371DPP10c.934T>A (p.Tyr312Asn)
c.967T>A (p.Tyr323Asn)
c.805T>A (p.Tyr269Asn)
c.943T>A (p.Tyr315Asn)
c.955T>A (p.Tyr319Asn)
c.703T>A (p.Tyr235Asn)
n.67+1557A>T
c.1006T>A (p.Tyr336Asn)
c.865T>A (p.Tyr289Asn)
c.838T>A (p.Tyr280Asn)
c.193T>A (p.Tyr65Asn)
c.832T>A (p.Tyr278Asn)
2g.115753178T>CCA348323372DPP10c.934T>C (p.Tyr312His)
c.967T>C (p.Tyr323His)
c.805T>C (p.Tyr269His)
c.943T>C (p.Tyr315His)
c.955T>C (p.Tyr319His)
c.703T>C (p.Tyr235His)
n.67+1557A>G
c.1006T>C (p.Tyr336His)
c.865T>C (p.Tyr289His)
c.838T>C (p.Tyr280His)
c.193T>C (p.Tyr65His)
c.832T>C (p.Tyr278His)
2g.115753178T>GCA348323373DPP10c.934T>G (p.Tyr312Asp)
c.967T>G (p.Tyr323Asp)
c.805T>G (p.Tyr269Asp)
c.943T>G (p.Tyr315Asp)
c.955T>G (p.Tyr319Asp)
c.703T>G (p.Tyr235Asp)
n.67+1557A>C
c.1006T>G (p.Tyr336Asp)
c.865T>G (p.Tyr289Asp)
c.838T>G (p.Tyr280Asp)
c.193T>G (p.Tyr65Asp)
c.832T>G (p.Tyr278Asp)
2g.115753179A>CCA348323374DPP10c.935A>C (p.Tyr312Ser)
c.968A>C (p.Tyr323Ser)
c.806A>C (p.Tyr269Ser)
c.944A>C (p.Tyr315Ser)
c.956A>C (p.Tyr319Ser)
c.704A>C (p.Tyr235Ser)
n.67+1556T>G
c.1007A>C (p.Tyr336Ser)
c.866A>C (p.Tyr289Ser)
c.839A>C (p.Tyr280Ser)
c.194A>C (p.Tyr65Ser)
c.833A>C (p.Tyr278Ser)
COSMIC COSMIC
2g.115753179A>GCA348323375DPP10c.935A>G (p.Tyr312Cys)
c.968A>G (p.Tyr323Cys)
c.806A>G (p.Tyr269Cys)
c.944A>G (p.Tyr315Cys)
c.956A>G (p.Tyr319Cys)
c.704A>G (p.Tyr235Cys)
n.67+1556T>C
c.1007A>G (p.Tyr336Cys)
c.866A>G (p.Tyr289Cys)
c.839A>G (p.Tyr280Cys)
c.194A>G (p.Tyr65Cys)
c.833A>G (p.Tyr278Cys)
COSMIC COSMIC
2g.115753179A>TCA348323376DPP10c.935A>T (p.Tyr312Phe)
c.968A>T (p.Tyr323Phe)
c.806A>T (p.Tyr269Phe)
c.944A>T (p.Tyr315Phe)
c.956A>T (p.Tyr319Phe)
c.704A>T (p.Tyr235Phe)
n.67+1556T>A
c.1007A>T (p.Tyr336Phe)
c.866A>T (p.Tyr289Phe)
c.839A>T (p.Tyr280Phe)
c.194A>T (p.Tyr65Phe)
c.833A>T (p.Tyr278Phe)
2g.115753180C>ACA348323378DPP10c.936C>A (p.Tyr312Ter)
c.969C>A (p.Tyr323Ter)
c.807C>A (p.Tyr269Ter)
c.945C>A (p.Tyr315Ter)
c.957C>A (p.Tyr319Ter)
c.705C>A (p.Tyr235Ter)
n.67+1555G>T
c.1008C>A (p.Tyr336Ter)
c.867C>A (p.Tyr289Ter)
c.840C>A (p.Tyr280Ter)
c.195C>A (p.Tyr65Ter)
c.834C>A (p.Tyr278Ter)
2g.115753180C>GCA348323377DPP10c.936C>G (p.Tyr312Ter)
c.969C>G (p.Tyr323Ter)
c.807C>G (p.Tyr269Ter)
c.945C>G (p.Tyr315Ter)
c.957C>G (p.Tyr319Ter)
c.705C>G (p.Tyr235Ter)
n.67+1555G>C
c.1008C>G (p.Tyr336Ter)
c.867C>G (p.Tyr289Ter)
c.840C>G (p.Tyr280Ter)
c.195C>G (p.Tyr65Ter)
c.834C>G (p.Tyr278Ter)
2g.115753180C>TCA428354211DPP10c.936C>T (p.Tyr312=)
c.969C>T (p.Tyr323=)
c.807C>T (p.Tyr269=)
c.945C>T (p.Tyr315=)
c.957C>T (p.Tyr319=)
c.705C>T (p.Tyr235=)
n.67+1555G>A
c.1008C>T (p.Tyr336=)
c.867C>T (p.Tyr289=)
c.840C>T (p.Tyr280=)
c.195C>T (p.Tyr65=)
c.834C>T (p.Tyr278=)
2g.115753181T>ACA348323379DPP10c.937T>A (p.Tyr313Asn)
c.970T>A (p.Tyr324Asn)
c.808T>A (p.Tyr270Asn)
c.946T>A (p.Tyr316Asn)
c.958T>A (p.Tyr320Asn)
c.706T>A (p.Tyr236Asn)
n.67+1554A>T
c.1009T>A (p.Tyr337Asn)
c.868T>A (p.Tyr290Asn)
c.841T>A (p.Tyr281Asn)
c.196T>A (p.Tyr66Asn)
c.835T>A (p.Tyr279Asn)
2g.115753181T>CCA1843056DPP10c.937T>C (p.Tyr313His)
c.970T>C (p.Tyr324His)
c.808T>C (p.Tyr270His)
c.946T>C (p.Tyr316His)
c.958T>C (p.Tyr320His)
c.706T>C (p.Tyr236His)
n.67+1554A>G
c.1009T>C (p.Tyr337His)
c.868T>C (p.Tyr290His)
c.841T>C (p.Tyr281His)
c.196T>C (p.Tyr66His)
c.835T>C (p.Tyr279His)
dbSNP ExAC gnomAD COSMIC COSMIC
2g.115753181T>GCA348323380DPP10c.937T>G (p.Tyr313Asp)
c.970T>G (p.Tyr324Asp)
c.808T>G (p.Tyr270Asp)
c.946T>G (p.Tyr316Asp)
c.958T>G (p.Tyr320Asp)
c.706T>G (p.Tyr236Asp)
n.67+1554A>C
c.1009T>G (p.Tyr337Asp)
c.868T>G (p.Tyr290Asp)
c.841T>G (p.Tyr281Asp)
c.196T>G (p.Tyr66Asp)
c.835T>G (p.Tyr279Asp)
2g.115753182A>CCA348323381DPP10c.938A>C (p.Tyr313Ser)
c.971A>C (p.Tyr324Ser)
c.809A>C (p.Tyr270Ser)
c.947A>C (p.Tyr316Ser)
c.959A>C (p.Tyr320Ser)
c.707A>C (p.Tyr236Ser)
n.67+1553T>G
c.1010A>C (p.Tyr337Ser)
c.869A>C (p.Tyr290Ser)
c.842A>C (p.Tyr281Ser)
c.197A>C (p.Tyr66Ser)
c.836A>C (p.Tyr279Ser)
2g.115753182A>GCA348323382DPP10c.938A>G (p.Tyr313Cys)
c.971A>G (p.Tyr324Cys)
c.809A>G (p.Tyr270Cys)
c.947A>G (p.Tyr316Cys)
c.959A>G (p.Tyr320Cys)
c.707A>G (p.Tyr236Cys)
n.67+1553T>C
c.1010A>G (p.Tyr337Cys)
c.869A>G (p.Tyr290Cys)
c.842A>G (p.Tyr281Cys)
c.197A>G (p.Tyr66Cys)
c.836A>G (p.Tyr279Cys)
gnomAD
2g.115753182A>TCA348323383DPP10c.938A>T (p.Tyr313Phe)
c.971A>T (p.Tyr324Phe)
c.809A>T (p.Tyr270Phe)
c.947A>T (p.Tyr316Phe)
c.959A>T (p.Tyr320Phe)
c.707A>T (p.Tyr236Phe)
n.67+1553T>A
c.1010A>T (p.Tyr337Phe)
c.869A>T (p.Tyr290Phe)
c.842A>T (p.Tyr281Phe)
c.197A>T (p.Tyr66Phe)
c.836A>T (p.Tyr279Phe)
2g.115753183T>ACA348323384DPP10c.939T>A (p.Tyr313Ter)
c.972T>A (p.Tyr324Ter)
c.810T>A (p.Tyr270Ter)
c.948T>A (p.Tyr316Ter)
c.960T>A (p.Tyr320Ter)
c.708T>A (p.Tyr236Ter)
n.67+1552A>T
c.1011T>A (p.Tyr337Ter)
c.870T>A (p.Tyr290Ter)
c.843T>A (p.Tyr281Ter)
c.198T>A (p.Tyr66Ter)
c.837T>A (p.Tyr279Ter)
2g.115753183T>CCA428354231DPP10c.939T>C (p.Tyr313=)
c.972T>C (p.Tyr324=)
c.810T>C (p.Tyr270=)
c.948T>C (p.Tyr316=)
c.960T>C (p.Tyr320=)
c.708T>C (p.Tyr236=)
n.67+1552A>G
c.1011T>C (p.Tyr337=)
c.870T>C (p.Tyr290=)
c.843T>C (p.Tyr281=)
c.198T>C (p.Tyr66=)
c.837T>C (p.Tyr279=)
gnomAD
2g.115753183T>GCA348323385DPP10c.939T>G (p.Tyr313Ter)
c.972T>G (p.Tyr324Ter)
c.810T>G (p.Tyr270Ter)
c.948T>G (p.Tyr316Ter)
c.960T>G (p.Tyr320Ter)
c.708T>G (p.Tyr236Ter)
n.67+1552A>C
c.1011T>G (p.Tyr337Ter)
c.870T>G (p.Tyr290Ter)
c.843T>G (p.Tyr281Ter)
c.198T>G (p.Tyr66Ter)
c.837T>G (p.Tyr279Ter)

Number of alleles fetched