Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.3457472T>ACA502810418TGIF1c.291T>A (p.Ile97=)
c.351T>A (p.Ile117=)
c.738T>A (p.Ile246=)
c.*64T>A (n.*64T>A)
c.393T>A (p.Ile131=)
c.360T>A (p.Ile120=)
18g.3457472T>CCA502810419TGIF1c.291T>C (p.Ile97=)
c.351T>C (p.Ile117=)
c.738T>C (p.Ile246=)
c.*64T>C (n.*64T>C)
c.393T>C (p.Ile131=)
c.360T>C (p.Ile120=)
18g.3457472T>GCA401723341TGIF1c.291T>G (p.Ile97Met)
c.351T>G (p.Ile117Met)
c.738T>G (p.Ile246Met)
c.*64T>G (n.*64T>G)
c.393T>G (p.Ile131Met)
c.360T>G (p.Ile120Met)
18g.3457473T>ACA401723342TGIF1c.292T>A (p.Ser98Thr)
c.352T>A (p.Ser118Thr)
c.739T>A (p.Ser247Thr)
c.*65T>A (n.*65T>A)
c.394T>A (p.Ser132Thr)
c.361T>A (p.Ser121Thr)
18g.3457473T>CCA401723343TGIF1c.292T>C (p.Ser98Pro)
c.352T>C (p.Ser118Pro)
c.739T>C (p.Ser247Pro)
c.*65T>C (n.*65T>C)
c.394T>C (p.Ser132Pro)
c.361T>C (p.Ser121Pro)
18g.3457473T>GCA401723344TGIF1c.292T>G (p.Ser98Ala)
c.352T>G (p.Ser118Ala)
c.739T>G (p.Ser247Ala)
c.*65T>G (n.*65T>G)
c.394T>G (p.Ser132Ala)
c.361T>G (p.Ser121Ala)
18g.3457474C>ACA401723345TGIF1c.293C>A (p.Ser98Tyr)
c.353C>A (p.Ser118Tyr)
c.740C>A (p.Ser247Tyr)
c.*66C>A (n.*66C>A)
c.395C>A (p.Ser132Tyr)
c.362C>A (p.Ser121Tyr)
18g.3457474C>GCA401723346TGIF1c.293C>G (p.Ser98Cys)
c.353C>G (p.Ser118Cys)
c.740C>G (p.Ser247Cys)
c.*66C>G (n.*66C>G)
c.395C>G (p.Ser132Cys)
c.362C>G (p.Ser121Cys)
18g.3457474C>TCA401723347TGIF1c.293C>T (p.Ser98Phe)
c.353C>T (p.Ser118Phe)
c.740C>T (p.Ser247Phe)
c.*66C>T (n.*66C>T)
c.395C>T (p.Ser132Phe)
c.362C>T (p.Ser121Phe)
18g.3457475T>ACA502810421TGIF1c.294T>A (p.Ser98=)
c.354T>A (p.Ser118=)
c.741T>A (p.Ser247=)
c.*67T>A (n.*67T>A)
c.396T>A (p.Ser132=)
c.363T>A (p.Ser121=)
18g.3457475T>CCA502810422TGIF1c.294T>C (p.Ser98=)
c.354T>C (p.Ser118=)
c.741T>C (p.Ser247=)
c.*67T>C (n.*67T>C)
c.396T>C (p.Ser132=)
c.363T>C (p.Ser121=)
18g.3457475T>GCA502810423TGIF1c.294T>G (p.Ser98=)
c.354T>G (p.Ser118=)
c.741T>G (p.Ser247=)
c.*67T>G (n.*67T>G)
c.396T>G (p.Ser132=)
c.363T>G (p.Ser121=)
18g.3457476G>ACA295567054TGIF1c.295G>A (p.Glu99Lys)
c.355G>A (p.Glu119Lys)
c.742G>A (p.Glu248Lys)
c.*68G>A (n.*68G>A)
c.397G>A (p.Glu133Lys)
c.364G>A (p.Glu122Lys)
dbSNP
18g.3457476G>CCA401723349TGIF1c.295G>C (p.Glu99Gln)
c.355G>C (p.Glu119Gln)
c.742G>C (p.Glu248Gln)
c.*68G>C (n.*68G>C)
c.397G>C (p.Glu133Gln)
c.364G>C (p.Glu122Gln)
dbSNP gnomAD v3 gnomAD v4
18g.3457476G=CA2281035535TGIF1c.295G= (p.Glu99=)
c.355G= (p.Glu119=)
c.742G= (p.Glu248=)
c.*68G= (n.*68G=)
c.397G= (p.Glu133=)
c.364G= (p.Glu122=)
18g.3457476G>TCA401723348TGIF1c.295G>T (p.Glu99Ter)
c.355G>T (p.Glu119Ter)
c.742G>T (p.Glu248Ter)
c.*68G>T (n.*68G>T)
c.397G>T (p.Glu133Ter)
c.364G>T (p.Glu122Ter)
18g.3457477A>CCA401723350TGIF1c.296A>C (p.Glu99Ala)
c.356A>C (p.Glu119Ala)
c.743A>C (p.Glu248Ala)
c.*69A>C (n.*69A>C)
c.398A>C (p.Glu133Ala)
c.365A>C (p.Glu122Ala)
18g.3457477A>GCA401723351TGIF1c.296A>G (p.Glu99Gly)
c.356A>G (p.Glu119Gly)
c.743A>G (p.Glu248Gly)
c.*69A>G (n.*69A>G)
c.398A>G (p.Glu133Gly)
c.365A>G (p.Glu122Gly)
18g.3457477A>TCA401723352TGIF1c.296A>T (p.Glu99Val)
c.356A>T (p.Glu119Val)
c.743A>T (p.Glu248Val)
c.*69A>T (n.*69A>T)
c.398A>T (p.Glu133Val)
c.365A>T (p.Glu122Val)
18g.3457478A>CCA401723353TGIF1c.297A>C (p.Glu99Asp)
c.357A>C (p.Glu119Asp)
c.744A>C (p.Glu248Asp)
c.*70A>C (n.*70A>C)
c.399A>C (p.Glu133Asp)
c.366A>C (p.Glu122Asp)
18g.3457478A>GCA502810427TGIF1c.297A>G (p.Glu99=)
c.357A>G (p.Glu119=)
c.744A>G (p.Glu248=)
c.*70A>G (n.*70A>G)
c.399A>G (p.Glu133=)
c.366A>G (p.Glu122=)
18g.3457478A>TCA401723354TGIF1c.297A>T (p.Glu99Asp)
c.357A>T (p.Glu119Asp)
c.744A>T (p.Glu248Asp)
c.*70A>T (n.*70A>T)
c.399A>T (p.Glu133Asp)
c.366A>T (p.Glu122Asp)
18g.3457479A>CCA401723355TGIF1c.298A>C (p.Thr100Pro)
c.358A>C (p.Thr120Pro)
c.745A>C (p.Thr249Pro)
c.*71A>C (n.*71A>C)
c.400A>C (p.Thr134Pro)
c.367A>C (p.Thr123Pro)
18g.3457479A>GCA401723356TGIF1c.298A>G (p.Thr100Ala)
c.358A>G (p.Thr120Ala)
c.745A>G (p.Thr249Ala)
c.*71A>G (n.*71A>G)
c.400A>G (p.Thr134Ala)
c.367A>G (p.Thr123Ala)
gnomAD v4
18g.3457479A>TCA401723357TGIF1c.298A>T (p.Thr100Ser)
c.358A>T (p.Thr120Ser)
c.745A>T (p.Thr249Ser)
c.*71A>T (n.*71A>T)
c.400A>T (p.Thr134Ser)
c.367A>T (p.Thr123Ser)
18g.3457480C>ACA401723358TGIF1c.299C>A (p.Thr100Lys)
c.359C>A (p.Thr120Lys)
c.746C>A (p.Thr249Lys)
c.*72C>A (n.*72C>A)
c.401C>A (p.Thr134Lys)
c.368C>A (p.Thr123Lys)
18g.3457480C=CA2281035536TGIF1c.299C= (p.Thr100=)
c.359C= (p.Thr120=)
c.746C= (p.Thr249=)
c.*72C= (n.*72C=)
c.401C= (p.Thr134=)
c.368C= (p.Thr123=)
18g.3457480C>GCA401723359TGIF1c.299C>G (p.Thr100Arg)
c.359C>G (p.Thr120Arg)
c.746C>G (p.Thr249Arg)
c.*72C>G (n.*72C>G)
c.401C>G (p.Thr134Arg)
c.368C>G (p.Thr123Arg)
18g.3457480C>TCA8875938TGIF1c.299C>T (p.Thr100Met)
c.359C>T (p.Thr120Met)
c.746C>T (p.Thr249Met)
c.*72C>T (n.*72C>T)
c.401C>T (p.Thr134Met)
c.368C>T (p.Thr123Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457481G>ACA8875939TGIF1c.300G>A (p.Thr100=)
c.360G>A (p.Thr120=)
c.747G>A (p.Thr249=)
c.*73G>A (n.*73G>A)
c.402G>A (p.Thr134=)
c.369G>A (p.Thr123=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457481G>CCA502810429TGIF1c.300G>C (p.Thr100=)
c.360G>C (p.Thr120=)
c.747G>C (p.Thr249=)
c.*73G>C (n.*73G>C)
c.402G>C (p.Thr134=)
c.369G>C (p.Thr123=)
gnomAD v4
18g.3457481G=CA2281035537TGIF1c.300G= (p.Thr100=)
c.360G= (p.Thr120=)
c.747G= (p.Thr249=)
c.*73G= (n.*73G=)
c.402G= (p.Thr134=)
c.369G= (p.Thr123=)
18g.3457481G>TCA502810430TGIF1c.300G>T (p.Thr100=)
c.360G>T (p.Thr120=)
c.747G>T (p.Thr249=)
c.*73G>T (n.*73G>T)
c.402G>T (p.Thr134=)
c.369G>T (p.Thr123=)
18g.3457482A>CCA401723362TGIF1c.301A>C (p.Ser101Arg)
c.361A>C (p.Ser121Arg)
c.748A>C (p.Ser250Arg)
c.*74A>C (n.*74A>C)
c.403A>C (p.Ser135Arg)
c.370A>C (p.Ser124Arg)
18g.3457482A>GCA401723360TGIF1c.301A>G (p.Ser101Gly)
c.361A>G (p.Ser121Gly)
c.748A>G (p.Ser250Gly)
c.*74A>G (n.*74A>G)
c.403A>G (p.Ser135Gly)
c.370A>G (p.Ser124Gly)
18g.3457482A>TCA401723361TGIF1c.301A>T (p.Ser101Cys)
c.361A>T (p.Ser121Cys)
c.748A>T (p.Ser250Cys)
c.*74A>T (n.*74A>T)
c.403A>T (p.Ser135Cys)
c.370A>T (p.Ser124Cys)
18g.3457483G>ACA401723363TGIF1c.302G>A (p.Ser101Asn)
c.362G>A (p.Ser121Asn)
c.749G>A (p.Ser250Asn)
c.*75G>A (n.*75G>A)
c.404G>A (p.Ser135Asn)
c.371G>A (p.Ser124Asn)
18g.3457483G>CCA401723364TGIF1c.302G>C (p.Ser101Thr)
c.362G>C (p.Ser121Thr)
c.749G>C (p.Ser250Thr)
c.*75G>C (n.*75G>C)
c.404G>C (p.Ser135Thr)
c.371G>C (p.Ser124Thr)
18g.3457483G>TCA401723365TGIF1c.302G>T (p.Ser101Ile)
c.362G>T (p.Ser121Ile)
c.749G>T (p.Ser250Ile)
c.*75G>T (n.*75G>T)
c.404G>T (p.Ser135Ile)
c.371G>T (p.Ser124Ile)
18g.3457484C>ACA401723366TGIF1c.303C>A (p.Ser101Arg)
c.363C>A (p.Ser121Arg)
c.750C>A (p.Ser250Arg)
c.*76C>A (n.*76C>A)
c.405C>A (p.Ser135Arg)
c.372C>A (p.Ser124Arg)
18g.3457484C>GCA401723367TGIF1c.303C>G (p.Ser101Arg)
c.363C>G (p.Ser121Arg)
c.750C>G (p.Ser250Arg)
c.*76C>G (n.*76C>G)
c.405C>G (p.Ser135Arg)
c.372C>G (p.Ser124Arg)
gnomAD v4
18g.3457484C>TCA502810432TGIF1c.303C>T (p.Ser101=)
c.363C>T (p.Ser121=)
c.750C>T (p.Ser250=)
c.*76C>T (n.*76C>T)
c.405C>T (p.Ser135=)
c.372C>T (p.Ser124=)
18g.3457485T>ACA401723368TGIF1c.304T>A (p.Ser102Thr)
c.364T>A (p.Ser122Thr)
c.751T>A (p.Ser251Thr)
c.*77T>A (n.*77T>A)
c.406T>A (p.Ser136Thr)
c.373T>A (p.Ser125Thr)
18g.3457485T>CCA401723369TGIF1c.304T>C (p.Ser102Pro)
c.364T>C (p.Ser122Pro)
c.751T>C (p.Ser251Pro)
c.*77T>C (n.*77T>C)
c.406T>C (p.Ser136Pro)
c.373T>C (p.Ser125Pro)
18g.3457485T>GCA401723370TGIF1c.304T>G (p.Ser102Ala)
c.364T>G (p.Ser122Ala)
c.751T>G (p.Ser251Ala)
c.*77T>G (n.*77T>G)
c.406T>G (p.Ser136Ala)
c.373T>G (p.Ser125Ala)
18g.3457486C>ACA401723371TGIF1c.305C>A (p.Ser102Tyr)
c.365C>A (p.Ser122Tyr)
c.752C>A (p.Ser251Tyr)
c.*78C>A (n.*78C>A)
c.407C>A (p.Ser136Tyr)
c.374C>A (p.Ser125Tyr)
18g.3457486C>GCA401723372TGIF1c.305C>G (p.Ser102Cys)
c.365C>G (p.Ser122Cys)
c.752C>G (p.Ser251Cys)
c.*78C>G (n.*78C>G)
c.407C>G (p.Ser136Cys)
c.374C>G (p.Ser125Cys)
18g.3457486C>TCA401723373TGIF1c.305C>T (p.Ser102Phe)
c.365C>T (p.Ser122Phe)
c.752C>T (p.Ser251Phe)
c.*78C>T (n.*78C>T)
c.407C>T (p.Ser136Phe)
c.374C>T (p.Ser125Phe)
18g.3457487T>ACA502810433TGIF1c.306T>A (p.Ser102=)
c.366T>A (p.Ser122=)
c.753T>A (p.Ser251=)
c.*79T>A (n.*79T>A)
c.408T>A (p.Ser136=)
c.375T>A (p.Ser125=)
18g.3457487T>CCA502810435TGIF1c.306T>C (p.Ser102=)
c.366T>C (p.Ser122=)
c.753T>C (p.Ser251=)
c.*79T>C (n.*79T>C)
c.408T>C (p.Ser136=)
c.375T>C (p.Ser125=)

Number of alleles fetched