Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.24240620A=CA2123849294TINF2c.860T= (p.Leu287=)
c.752T= (p.Leu251=)
c.755T= (p.Leu252=)
c.422T= (p.Leu141=)
c.*232T= (p.=)
n.586T=
n.757+59T=
c.*240T= (p.=)
c.218T= (p.Leu73=)
14g.24240620A>CCA389225400TINF2c.860T>G (p.Leu287Arg)
c.752T>G (p.Leu251Arg)
c.755T>G (p.Leu252Arg)
c.422T>G (p.Leu141Arg)
c.*232T>G (p.=)
n.586T>G
n.757+59T>G
c.*240T>G (p.=)
c.218T>G (p.Leu73Arg)
COSMIC COSMIC
14g.24240620A>GCA343187TINF2c.860T>C (p.Leu287Pro)
c.752T>C (p.Leu251Pro)
c.755T>C (p.Leu252Pro)
c.422T>C (p.Leu141Pro)
c.*232T>C (p.=)
n.586T>C
n.757+59T>C
c.*240T>C (p.=)
c.218T>C (p.Leu73Pro)
ClinVar dbSNP
14g.24240620A>TCA389225406TINF2c.860T>A (p.Leu287Gln)
c.752T>A (p.Leu251Gln)
c.755T>A (p.Leu252Gln)
c.422T>A (p.Leu141Gln)
c.*232T>A (p.=)
n.586T>A
n.757+59T>A
c.*240T>A (p.=)
c.218T>A (p.Leu73Gln)
14g.24240621G>ACA485782128TINF2c.859C>T (p.Leu287=)
c.751C>T (p.Leu251=)
c.754C>T (p.Leu252=)
c.421C>T (p.Leu141=)
c.*231C>T (p.=)
n.585C>T
n.757+58C>T
c.*239C>T (p.=)
c.217C>T (p.Leu73=)
14g.24240621G>CCA389225409TINF2c.859C>G (p.Leu287Val)
c.751C>G (p.Leu251Val)
c.754C>G (p.Leu252Val)
c.421C>G (p.Leu141Val)
c.*231C>G (p.=)
n.585C>G
n.757+58C>G
c.*239C>G (p.=)
c.217C>G (p.Leu73Val)
14g.24240621G>TCA389225414TINF2c.859C>A (p.Leu287Met)
c.751C>A (p.Leu251Met)
c.754C>A (p.Leu252Met)
c.421C>A (p.Leu141Met)
c.*231C>A (p.=)
n.585C>A
n.757+58C>A
c.*239C>A (p.=)
c.217C>A (p.Leu73Met)
14g.24240622C>ACA389225421TINF2c.858G>T (p.Met286Ile)
c.750G>T (p.Met250Ile)
c.753G>T (p.Met251Ile)
c.420G>T (p.Met140Ile)
c.*230G>T (p.=)
n.584G>T
n.757+57G>T
c.*238G>T (p.=)
c.216G>T (p.Met72Ile)
14g.24240622C>GCA389225422TINF2c.858G>C (p.Met286Ile)
c.750G>C (p.Met250Ile)
c.753G>C (p.Met251Ile)
c.420G>C (p.Met140Ile)
c.*230G>C (p.=)
n.584G>C
n.757+57G>C
c.*238G>C (p.=)
c.216G>C (p.Met72Ile)
14g.24240622C>TCA389225423TINF2c.858G>A (p.Met286Ile)
c.750G>A (p.Met250Ile)
c.753G>A (p.Met251Ile)
c.420G>A (p.Met140Ile)
c.*230G>A (p.=)
n.584G>A
n.757+57G>A
c.*238G>A (p.=)
c.216G>A (p.Met72Ile)
14g.24240623A>CCA389225426TINF2c.857T>G (p.Met286Arg)
c.749T>G (p.Met250Arg)
c.752T>G (p.Met251Arg)
c.419T>G (p.Met140Arg)
c.*229T>G (p.=)
n.583T>G
n.757+56T>G
c.*237T>G (p.=)
c.215T>G (p.Met72Arg)
14g.24240623A>GCA389225431TINF2c.857T>C (p.Met286Thr)
c.749T>C (p.Met250Thr)
c.752T>C (p.Met251Thr)
c.419T>C (p.Met140Thr)
c.*229T>C (p.=)
n.583T>C
n.757+56T>C
c.*237T>C (p.=)
c.215T>C (p.Met72Thr)
14g.24240623A>TCA389225433TINF2c.857T>A (p.Met286Lys)
c.749T>A (p.Met250Lys)
c.752T>A (p.Met251Lys)
c.419T>A (p.Met140Lys)
c.*229T>A (p.=)
n.583T>A
n.757+56T>A
c.*237T>A (p.=)
c.215T>A (p.Met72Lys)
14g.24240624T>ACA389225440TINF2c.856A>T (p.Met286Leu)
c.748A>T (p.Met250Leu)
c.751A>T (p.Met251Leu)
c.418A>T (p.Met140Leu)
c.*228A>T (p.=)
n.582A>T
n.757+55A>T
c.*236A>T (p.=)
c.214A>T (p.Met72Leu)
14g.24240624T>CCA389225438TINF2c.856A>G (p.Met286Val)
c.748A>G (p.Met250Val)
c.751A>G (p.Met251Val)
c.418A>G (p.Met140Val)
c.*228A>G (p.=)
n.582A>G
n.757+55A>G
c.*236A>G (p.=)
c.214A>G (p.Met72Val)
COSMIC COSMIC
14g.24240624T>GCA389225437TINF2c.856A>C (p.Met286Leu)
c.748A>C (p.Met250Leu)
c.751A>C (p.Met251Leu)
c.418A>C (p.Met140Leu)
c.*228A>C (p.=)
n.582A>C
n.757+55A>C
c.*236A>C (p.=)
c.214A>C (p.Met72Leu)
14g.24240624T=CA2123849295TINF2c.856A= (p.Met286=)
c.748A= (p.Met250=)
c.751A= (p.Met251=)
c.418A= (p.Met140=)
c.*228A= (p.=)
n.582A=
n.757+55A=
c.*236A= (p.=)
c.214A= (p.Met72=)
14g.24240625G>ACA7130553TINF2c.855C>T (p.Val285=)
c.747C>T (p.Val249=)
c.750C>T (p.Val250=)
c.417C>T (p.Val139=)
c.*227C>T (p.=)
n.581C>T
n.757+54C>T
c.*235C>T (p.=)
c.213C>T (p.Val71=)
dbSNP ExAC gnomAD
14g.24240625G>CCA485782129TINF2c.855C>G (p.Val285=)
c.747C>G (p.Val249=)
c.750C>G (p.Val250=)
c.417C>G (p.Val139=)
c.*227C>G (p.=)
n.581C>G
n.757+54C>G
c.*235C>G (p.=)
c.213C>G (p.Val71=)
14g.24240625G=CA2123849296TINF2c.855C= (p.Val285=)
c.747C= (p.Val249=)
c.750C= (p.Val250=)
c.417C= (p.Val139=)
c.*227C= (p.=)
n.581C=
n.757+54C=
c.*235C= (p.=)
c.213C= (p.Val71=)
14g.24240625G>TCA485782130TINF2c.855C>A (p.Val285=)
c.747C>A (p.Val249=)
c.750C>A (p.Val250=)
c.417C>A (p.Val139=)
c.*227C>A (p.=)
n.581C>A
n.757+54C>A
c.*235C>A (p.=)
c.213C>A (p.Val71=)
14g.24240626A>CCA389225444TINF2c.854T>G (p.Val285Gly)
c.746T>G (p.Val249Gly)
c.749T>G (p.Val250Gly)
c.416T>G (p.Val139Gly)
c.*226T>G (p.=)
n.580T>G
n.757+53T>G
c.*234T>G (p.=)
c.212T>G (p.Val71Gly)
14g.24240626A>GCA389225449TINF2c.854T>C (p.Val285Ala)
c.746T>C (p.Val249Ala)
c.749T>C (p.Val250Ala)
c.416T>C (p.Val139Ala)
c.*226T>C (p.=)
n.580T>C
n.757+53T>C
c.*234T>C (p.=)
c.212T>C (p.Val71Ala)
14g.24240626A>TCA389225445TINF2c.854T>A (p.Val285Asp)
c.746T>A (p.Val249Asp)
c.749T>A (p.Val250Asp)
c.416T>A (p.Val139Asp)
c.*226T>A (p.=)
n.580T>A
n.757+53T>A
c.*234T>A (p.=)
c.212T>A (p.Val71Asp)
14g.24240627C>ACA389225450TINF2c.853G>T (p.Val285Phe)
c.745G>T (p.Val249Phe)
c.748G>T (p.Val250Phe)
c.415G>T (p.Val139Phe)
c.*225G>T (p.=)
n.579G>T
n.757+52G>T
c.*233G>T (p.=)
c.211G>T (p.Val71Phe)
14g.24240627C>GCA389225451TINF2c.853G>C (p.Val285Leu)
c.745G>C (p.Val249Leu)
c.748G>C (p.Val250Leu)
c.415G>C (p.Val139Leu)
c.*225G>C (p.=)
n.579G>C
n.757+52G>C
c.*233G>C (p.=)
c.211G>C (p.Val71Leu)
14g.24240627C>TCA389225452TINF2c.853G>A (p.Val285Ile)
c.745G>A (p.Val249Ile)
c.748G>A (p.Val250Ile)
c.415G>A (p.Val139Ile)
c.*225G>A (p.=)
n.579G>A
n.757+52G>A
c.*233G>A (p.=)
c.211G>A (p.Val71Ile)
14g.24240628T>ACA257880921TINF2c.852A>T (p.Thr284=)
c.744A>T (p.Thr248=)
c.747A>T (p.Thr249=)
c.414A>T (p.Thr138=)
c.*224A>T (p.=)
n.578A>T
n.757+51A>T
c.*232A>T (p.=)
c.210A>T (p.Thr70=)
dbSNP
14g.24240628T>CCA485782132TINF2c.852A>G (p.Thr284=)
c.744A>G (p.Thr248=)
c.747A>G (p.Thr249=)
c.414A>G (p.Thr138=)
c.*224A>G (p.=)
n.578A>G
n.757+51A>G
c.*232A>G (p.=)
c.210A>G (p.Thr70=)
14g.24240628T>GCA485782131TINF2c.852A>C (p.Thr284=)
c.744A>C (p.Thr248=)
c.747A>C (p.Thr249=)
c.414A>C (p.Thr138=)
c.*224A>C (p.=)
n.578A>C
n.757+51A>C
c.*232A>C (p.=)
c.210A>C (p.Thr70=)
14g.24240628T=CA2123849297TINF2c.852A= (p.Thr284=)
c.744A= (p.Thr248=)
c.747A= (p.Thr249=)
c.414A= (p.Thr138=)
c.*224A= (p.=)
n.578A=
n.757+51A=
c.*232A= (p.=)
c.210A= (p.Thr70=)
14g.24240630_24240631delCA645580794TINF2c.851_852del (p.Thr284SerfsTer7)
c.743_744del (p.Thr248SerfsTer7)
c.746_747del (p.Thr249SerfsTer7)
c.413_414del (p.Thr138SerfsTer7)
c.*223_*224del (p.=)
n.577_578del
n.757+50_757+51del
c.*231_*232del (p.=)
c.209_210del (p.Thr70SerfsTer7)
COSMIC COSMIC
14g.24240629G>ACA389225457TINF2c.851C>T (p.Thr284Ile)
c.743C>T (p.Thr248Ile)
c.746C>T (p.Thr249Ile)
c.413C>T (p.Thr138Ile)
c.*223C>T (p.=)
n.577C>T
n.757+50C>T
c.*231C>T (p.=)
c.209C>T (p.Thr70Ile)
14g.24240629G>CCA389225459TINF2c.851C>G (p.Thr284Arg)
c.743C>G (p.Thr248Arg)
c.746C>G (p.Thr249Arg)
c.413C>G (p.Thr138Arg)
c.*223C>G (p.=)
n.577C>G
n.757+50C>G
c.*231C>G (p.=)
c.209C>G (p.Thr70Arg)
14g.24240629G>TCA389225461TINF2c.851C>A (p.Thr284Lys)
c.743C>A (p.Thr248Lys)
c.746C>A (p.Thr249Lys)
c.413C>A (p.Thr138Lys)
c.*223C>A (p.=)
n.577C>A
n.757+50C>A
c.*231C>A (p.=)
c.209C>A (p.Thr70Lys)
14g.24240630T>ACA389225464TINF2c.850A>T (p.Thr284Ser)
c.742A>T (p.Thr248Ser)
c.745A>T (p.Thr249Ser)
c.412A>T (p.Thr138Ser)
c.*222A>T (p.=)
n.576A>T
n.757+49A>T
c.*230A>T (p.=)
c.208A>T (p.Thr70Ser)
14g.24240630T>CCA343185TINF2c.850A>G (p.Thr284Ala)
c.742A>G (p.Thr248Ala)
c.745A>G (p.Thr249Ala)
c.412A>G (p.Thr138Ala)
c.*222A>G (p.=)
n.576A>G
n.757+49A>G
c.*230A>G (p.=)
c.208A>G (p.Thr70Ala)
ClinVar dbSNP
14g.24240630T>GCA389225473TINF2c.850A>C (p.Thr284Pro)
c.742A>C (p.Thr248Pro)
c.745A>C (p.Thr249Pro)
c.412A>C (p.Thr138Pro)
c.*222A>C (p.=)
n.576A>C
n.757+49A>C
c.*230A>C (p.=)
c.208A>C (p.Thr70Pro)
14g.24240630T=CA2123849298TINF2c.850A= (p.Thr284=)
c.742A= (p.Thr248=)
c.745A= (p.Thr249=)
c.412A= (p.Thr138=)
c.*222A= (p.=)
n.576A=
n.757+49A=
c.*230A= (p.=)
c.208A= (p.Thr70=)
14g.24240631G>ACA485782133TINF2c.849C>T (p.Pro283=)
c.741C>T (p.Pro247=)
c.744C>T (p.Pro248=)
c.411C>T (p.Pro137=)
c.*221C>T (p.=)
n.575C>T
n.757+48C>T
c.*229C>T (p.=)
c.207C>T (p.Pro69=)
14g.24240631G>CCA257880924TINF2c.849C>G (p.Pro283=)
c.741C>G (p.Pro247=)
c.744C>G (p.Pro248=)
c.411C>G (p.Pro137=)
c.*221C>G (p.=)
n.575C>G
n.757+48C>G
c.*229C>G (p.=)
c.207C>G (p.Pro69=)
dbSNP
14g.24240631G=CA2123849299TINF2c.849C= (p.Pro283=)
c.741C= (p.Pro247=)
c.744C= (p.Pro248=)
c.411C= (p.Pro137=)
c.*221C= (p.=)
n.575C=
n.757+48C=
c.*229C= (p.=)
c.207C= (p.Pro69=)
14g.24240631G>TCA485782134TINF2c.849C>A (p.Pro283=)
c.741C>A (p.Pro247=)
c.744C>A (p.Pro248=)
c.411C>A (p.Pro137=)
c.*221C>A (p.=)
n.575C>A
n.757+48C>A
c.*229C>A (p.=)
c.207C>A (p.Pro69=)
14g.24240634dupCA343184TINF2c.849dup (p.Thr284HisfsTer8)
c.741dup (p.Thr248HisfsTer8)
c.744dup (p.Thr249HisfsTer8)
c.411dup (p.Thr138HisfsTer8)
c.*221dup (p.=)
n.575dup
n.757+48dup
c.*229dup (p.=)
c.207dup (p.Thr70HisfsTer8)
ClinVar dbSNP
14g.24240632G>ACA389225517TINF2c.848C>T (p.Pro283Leu)
c.740C>T (p.Pro247Leu)
c.743C>T (p.Pro248Leu)
c.410C>T (p.Pro137Leu)
c.*220C>T (p.=)
n.574C>T
n.757+47C>T
c.*228C>T (p.=)
c.206C>T (p.Pro69Leu)
14g.24240632G>CCA389225513TINF2c.848C>G (p.Pro283Arg)
c.740C>G (p.Pro247Arg)
c.743C>G (p.Pro248Arg)
c.410C>G (p.Pro137Arg)
c.*220C>G (p.=)
n.574C>G
n.757+47C>G
c.*228C>G (p.=)
c.206C>G (p.Pro69Arg)
14g.24240632G=CA2123849300TINF2c.848C= (p.Pro283=)
c.740C= (p.Pro247=)
c.743C= (p.Pro248=)
c.410C= (p.Pro137=)
c.*220C= (p.=)
n.574C=
n.757+47C=
c.*228C= (p.=)
c.206C= (p.Pro69=)
14g.24240632G>TCA343182TINF2c.848C>A (p.Pro283His)
c.740C>A (p.Pro247His)
c.743C>A (p.Pro248His)
c.410C>A (p.Pro137His)
c.*220C>A (p.=)
n.574C>A
n.757+47C>A
c.*228C>A (p.=)
c.206C>A (p.Pro69His)
ClinVar dbSNP
14g.24240633G>ACA343180TINF2c.847C>T (p.Pro283Ser)
c.739C>T (p.Pro247Ser)
c.742C>T (p.Pro248Ser)
c.409C>T (p.Pro137Ser)
c.*219C>T (p.=)
n.573C>T
n.757+46C>T
c.*227C>T (p.=)
c.205C>T (p.Pro69Ser)
ClinVar dbSNP
14g.24240633G>CCA343178TINF2c.847C>G (p.Pro283Ala)
c.739C>G (p.Pro247Ala)
c.742C>G (p.Pro248Ala)
c.409C>G (p.Pro137Ala)
c.*219C>G (p.=)
n.573C>G
n.757+46C>G
c.*227C>G (p.=)
c.205C>G (p.Pro69Ala)
ClinVar dbSNP

Number of alleles fetched