Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.3457589G>ACA8875958TGIF1c.408G>A (p.Leu136=)
c.468G>A (p.Leu156=)
c.855G>A (p.Leu285=)
c.*181G>A (n.*181G>A)
c.510G>A (p.Leu170=)
c.477G>A (p.Leu159=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457589G>CCA502810564TGIF1c.408G>C (p.Leu136=)
c.468G>C (p.Leu156=)
c.855G>C (p.Leu285=)
c.*181G>C (n.*181G>C)
c.510G>C (p.Leu170=)
c.477G>C (p.Leu159=)
gnomAD v4
18g.3457589G=CA2281035582TGIF1c.408G= (p.Leu136=)
c.468G= (p.Leu156=)
c.855G= (p.Leu285=)
c.*181G= (n.*181G=)
c.510G= (p.Leu170=)
c.477G= (p.Leu159=)
18g.3457589G>TCA502810566TGIF1c.408G>T (p.Leu136=)
c.468G>T (p.Leu156=)
c.855G>T (p.Leu285=)
c.*181G>T (n.*181G>T)
c.510G>T (p.Leu170=)
c.477G>T (p.Leu159=)
18g.3457590T>ACA401723587TGIF1c.409T>A (p.Ser137Thr)
c.469T>A (p.Ser157Thr)
c.856T>A (p.Ser286Thr)
c.*182T>A (n.*182T>A)
c.511T>A (p.Ser171Thr)
c.478T>A (p.Ser160Thr)
18g.3457590T>CCA401723588TGIF1c.409T>C (p.Ser137Pro)
c.469T>C (p.Ser157Pro)
c.856T>C (p.Ser286Pro)
c.*182T>C (n.*182T>C)
c.511T>C (p.Ser171Pro)
c.478T>C (p.Ser160Pro)
18g.3457590T>GCA401723589TGIF1c.409T>G (p.Ser137Ala)
c.469T>G (p.Ser157Ala)
c.856T>G (p.Ser286Ala)
c.*182T>G (n.*182T>G)
c.511T>G (p.Ser171Ala)
c.478T>G (p.Ser160Ala)
18g.3457591C>ACA401723592TGIF1c.410C>A (p.Ser137Tyr)
c.470C>A (p.Ser157Tyr)
c.857C>A (p.Ser286Tyr)
c.*183C>A (n.*183C>A)
c.512C>A (p.Ser171Tyr)
c.479C>A (p.Ser160Tyr)
18g.3457591C=CA2281035583TGIF1c.410C= (p.Ser137=)
c.470C= (p.Ser157=)
c.857C= (p.Ser286=)
c.*183C= (n.*183C=)
c.512C= (p.Ser171=)
c.479C= (p.Ser160=)
18g.3457591C>GCA401723591TGIF1c.410C>G (p.Ser137Cys)
c.470C>G (p.Ser157Cys)
c.857C>G (p.Ser286Cys)
c.*183C>G (n.*183C>G)
c.512C>G (p.Ser171Cys)
c.479C>G (p.Ser160Cys)
18g.3457591C>TCA401723590TGIF1c.410C>T (p.Ser137Phe)
c.470C>T (p.Ser157Phe)
c.857C>T (p.Ser286Phe)
c.*183C>T (n.*183C>T)
c.512C>T (p.Ser171Phe)
c.479C>T (p.Ser160Phe)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.3457592T>ACA502810567TGIF1c.411T>A (p.Ser137=)
c.471T>A (p.Ser157=)
c.858T>A (p.Ser286=)
c.*184T>A (n.*184T>A)
c.513T>A (p.Ser171=)
c.480T>A (p.Ser160=)
18g.3457592T>CCA502810568TGIF1c.411T>C (p.Ser137=)
c.471T>C (p.Ser157=)
c.858T>C (p.Ser286=)
c.*184T>C (n.*184T>C)
c.513T>C (p.Ser171=)
c.480T>C (p.Ser160=)
18g.3457592T>GCA502810570TGIF1c.411T>G (p.Ser137=)
c.471T>G (p.Ser157=)
c.858T>G (p.Ser286=)
c.*184T>G (n.*184T>G)
c.513T>G (p.Ser171=)
c.480T>G (p.Ser160=)
18g.3457593C>ACA401723593TGIF1c.412C>A (p.Pro138Thr)
c.472C>A (p.Pro158Thr)
c.859C>A (p.Pro287Thr)
c.412C>A
c.*185C>A (n.*185C>A)
c.514C>A (p.Pro172Thr)
c.481C>A (p.Pro161Thr)
dbSNP gnomAD v2 gnomAD v4
18g.3457593C=CA2281035584TGIF1c.412C= (p.Pro138=)
c.472C= (p.Pro158=)
c.859C= (p.Pro287=)
c.412C=
c.*185C= (n.*185C=)
c.514C= (p.Pro172=)
c.481C= (p.Pro161=)
18g.3457593C>GCA401723594TGIF1c.412C>G (p.Pro138Ala)
c.472C>G (p.Pro158Ala)
c.859C>G (p.Pro287Ala)
c.412C>G
c.*185C>G (n.*185C>G)
c.514C>G (p.Pro172Ala)
c.481C>G (p.Pro161Ala)
18g.3457593C>TCA401723595TGIF1c.412C>T (p.Pro138Ser)
c.472C>T (p.Pro158Ser)
c.859C>T (p.Pro287Ser)
c.412C>T
c.*185C>T (n.*185C>T)
c.514C>T (p.Pro172Ser)
c.481C>T (p.Pro161Ser)
dbSNP
18g.3457594C>ACA401723596TGIF1c.413C>A (p.Pro138His)
c.473C>A (p.Pro158His)
c.860C>A (p.Pro287His)
c.413C>A
c.*186C>A (n.*186C>A)
c.515C>A (p.Pro172His)
c.482C>A (p.Pro161His)
18g.3457594C=CA2281035585TGIF1c.413C= (p.Pro138=)
c.473C= (p.Pro158=)
c.860C= (p.Pro287=)
c.413C=
c.*186C= (n.*186C=)
c.515C= (p.Pro172=)
c.482C= (p.Pro161=)
18g.3457594C>GCA401723597TGIF1c.413C>G (p.Pro138Arg)
c.473C>G (p.Pro158Arg)
c.860C>G (p.Pro287Arg)
c.413C>G
c.*186C>G (n.*186C>G)
c.515C>G (p.Pro172Arg)
c.482C>G (p.Pro161Arg)
18g.3457594C>TCA401723598TGIF1c.413C>T (p.Pro138Leu)
c.473C>T (p.Pro158Leu)
c.860C>T (p.Pro287Leu)
c.413C>T
c.*186C>T (n.*186C>T)
c.515C>T (p.Pro172Leu)
c.482C>T (p.Pro161Leu)
dbSNP
18g.3457595T>ACA502810572TGIF1c.414T>A (p.Pro138=)
c.474T>A (p.Pro158=)
c.861T>A (p.Pro287=)
c.*187T>A (n.*187T>A)
c.516T>A (p.Pro172=)
c.483T>A (p.Pro161=)
18g.3457595T>CCA8875959TGIF1c.414T>C (p.Pro138=)
c.474T>C (p.Pro158=)
c.861T>C (p.Pro287=)
c.*187T>C (n.*187T>C)
c.516T>C (p.Pro172=)
c.483T>C (p.Pro161=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457595T>GCA502810573TGIF1c.414T>G (p.Pro138=)
c.474T>G (p.Pro158=)
c.861T>G (p.Pro287=)
c.*187T>G (n.*187T>G)
c.516T>G (p.Pro172=)
c.483T>G (p.Pro161=)
18g.3457595T=CA2281035586TGIF1c.414T= (p.Pro138=)
c.474T= (p.Pro158=)
c.861T= (p.Pro287=)
c.*187T= (n.*187T=)
c.516T= (p.Pro172=)
c.483T= (p.Pro161=)
18g.3457596A>CCA401723599TGIF1c.415A>C (p.Lys139Gln)
c.475A>C (p.Lys159Gln)
c.862A>C (p.Lys288Gln)
c.*188A>C (n.*188A>C)
c.517A>C (p.Lys173Gln)
c.484A>C (p.Lys162Gln)
18g.3457596A>GCA401723600TGIF1c.415A>G (p.Lys139Glu)
c.475A>G (p.Lys159Glu)
c.862A>G (p.Lys288Glu)
c.*188A>G (n.*188A>G)
c.517A>G (p.Lys173Glu)
c.484A>G (p.Lys162Glu)
18g.3457596A>TCA401723601TGIF1c.415A>T (p.Lys139Ter)
c.475A>T (p.Lys159Ter)
c.862A>T (p.Lys288Ter)
c.*188A>T (n.*188A>T)
c.517A>T (p.Lys173Ter)
c.484A>T (p.Lys162Ter)
18g.3457597A>CCA401723602TGIF1c.416A>C (p.Lys139Thr)
c.476A>C (p.Lys159Thr)
c.863A>C (p.Lys288Thr)
c.*189A>C (n.*189A>C)
c.518A>C (p.Lys173Thr)
c.485A>C (p.Lys162Thr)
18g.3457597A>GCA401723603TGIF1c.416A>G (p.Lys139Arg)
c.476A>G (p.Lys159Arg)
c.863A>G (p.Lys288Arg)
c.*189A>G (n.*189A>G)
c.518A>G (p.Lys173Arg)
c.485A>G (p.Lys162Arg)
18g.3457597A>TCA401723604TGIF1c.416A>T (p.Lys139Met)
c.476A>T (p.Lys159Met)
c.863A>T (p.Lys288Met)
c.*189A>T (n.*189A>T)
c.518A>T (p.Lys173Met)
c.485A>T (p.Lys162Met)
18g.3457598G>ACA502810575TGIF1c.417G>A (p.Lys139=)
c.477G>A (p.Lys159=)
c.864G>A (p.Lys288=)
c.*190G>A (n.*190G>A)
c.519G>A (p.Lys173=)
c.486G>A (p.Lys162=)
18g.3457598G>CCA401723606TGIF1c.417G>C (p.Lys139Asn)
c.477G>C (p.Lys159Asn)
c.864G>C (p.Lys288Asn)
c.*190G>C (n.*190G>C)
c.519G>C (p.Lys173Asn)
c.486G>C (p.Lys162Asn)
18g.3457598G>TCA401723605TGIF1c.417G>T (p.Lys139Asn)
c.477G>T (p.Lys159Asn)
c.864G>T (p.Lys288Asn)
c.*190G>T (n.*190G>T)
c.519G>T (p.Lys173Asn)
c.486G>T (p.Lys162Asn)
18g.3457599C>ACA401723607TGIF1c.418C>A (p.Pro140Thr)
c.478C>A (p.Pro160Thr)
c.865C>A (p.Pro289Thr)
c.*191C>A (n.*191C>A)
c.520C>A (p.Pro174Thr)
c.487C>A (p.Pro163Thr)
18g.3457599C=CA2281035587TGIF1c.418C= (p.Pro140=)
c.478C= (p.Pro160=)
c.865C= (p.Pro289=)
c.*191C= (n.*191C=)
c.520C= (p.Pro174=)
c.487C= (p.Pro163=)
18g.3457599C>GCA401723608TGIF1c.418C>G (p.Pro140Ala)
c.478C>G (p.Pro160Ala)
c.865C>G (p.Pro289Ala)
c.*191C>G (n.*191C>G)
c.520C>G (p.Pro174Ala)
c.487C>G (p.Pro163Ala)
18g.3457599C>TCA295567192TGIF1c.418C>T (p.Pro140Ser)
c.478C>T (p.Pro160Ser)
c.865C>T (p.Pro289Ser)
c.*191C>T (n.*191C>T)
c.520C>T (p.Pro174Ser)
c.487C>T (p.Pro163Ser)
dbSNP
18g.3457600_3457603dupCA645599951TGIF1c.419_422dup (p.Ser142ValfsTer?)
c.479_482dup (p.Ser162ValfsTer?)
c.866_869dup (p.Ser291ValfsTer?)
c.*192_*195dup (n.*192_*195dup)
c.521_524dup (p.Ser176ValfsTer?)
c.488_491dup (p.Ser165ValfsTer?)
COSMIC
18g.3457600C>ACA401723609TGIF1c.419C>A (p.Pro140Gln)
c.479C>A (p.Pro160Gln)
c.866C>A (p.Pro289Gln)
c.*192C>A (n.*192C>A)
c.521C>A (p.Pro174Gln)
c.488C>A (p.Pro163Gln)
18g.3457600C=CA2281035588TGIF1c.419C= (p.Pro140=)
c.479C= (p.Pro160=)
c.866C= (p.Pro289=)
c.*192C= (n.*192C=)
c.521C= (p.Pro174=)
c.488C= (p.Pro163=)
18g.3457600C>GCA401723610TGIF1c.419C>G (p.Pro140Arg)
c.479C>G (p.Pro160Arg)
c.866C>G (p.Pro289Arg)
c.*192C>G (n.*192C>G)
c.521C>G (p.Pro174Arg)
c.488C>G (p.Pro163Arg)
18g.3457600C>TCA8875960TGIF1c.419C>T (p.Pro140Leu)
c.479C>T (p.Pro160Leu)
c.866C>T (p.Pro289Leu)
c.*192C>T (n.*192C>T)
c.521C>T (p.Pro174Leu)
c.488C>T (p.Pro163Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457601G>ACA8875961TGIF1c.420G>A (p.Pro140=)
c.480G>A (p.Pro160=)
c.867G>A (p.Pro289=)
c.*193G>A (n.*193G>A)
c.522G>A (p.Pro174=)
c.489G>A (p.Pro163=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457601G>CCA502810579TGIF1c.420G>C (p.Pro140=)
c.480G>C (p.Pro160=)
c.867G>C (p.Pro289=)
c.*193G>C (n.*193G>C)
c.522G>C (p.Pro174=)
c.489G>C (p.Pro163=)
18g.3457601G=CA2281035589TGIF1c.420G= (p.Pro140=)
c.480G= (p.Pro160=)
c.867G= (p.Pro289=)
c.*193G= (n.*193G=)
c.522G= (p.Pro174=)
c.489G= (p.Pro163=)
18g.3457601G>TCA502810580TGIF1c.420G>T (p.Pro140=)
c.480G>T (p.Pro160=)
c.867G>T (p.Pro289=)
c.*193G>T (n.*193G>T)
c.522G>T (p.Pro174=)
c.489G>T (p.Pro163=)
18g.3457602T>ACA401723611TGIF1c.421T>A (p.Ser141Thr)
c.481T>A (p.Ser161Thr)
c.868T>A (p.Ser290Thr)
c.*194T>A (n.*194T>A)
c.523T>A (p.Ser175Thr)
c.490T>A (p.Ser164Thr)
18g.3457602T>CCA401723612TGIF1c.421T>C (p.Ser141Pro)
c.481T>C (p.Ser161Pro)
c.868T>C (p.Ser290Pro)
c.*194T>C (n.*194T>C)
c.523T>C (p.Ser175Pro)
c.490T>C (p.Ser164Pro)
dbSNP gnomAD v4
18g.3457602T>GCA401723613TGIF1c.421T>G (p.Ser141Ala)
c.481T>G (p.Ser161Ala)
c.868T>G (p.Ser290Ala)
c.*194T>G (n.*194T>G)
c.523T>G (p.Ser175Ala)
c.490T>G (p.Ser164Ala)
18g.3457602T=CA2281035590TGIF1c.421T= (p.Ser141=)
c.481T= (p.Ser161=)
c.868T= (p.Ser290=)
c.*194T= (n.*194T=)
c.523T= (p.Ser175=)
c.490T= (p.Ser164=)
18g.3457603C>ACA401723614TGIF1c.422C>A (p.Ser141Ter)
c.482C>A (p.Ser161Ter)
c.869C>A (p.Ser290Ter)
c.*195C>A (n.*195C>A)
c.524C>A (p.Ser175Ter)
c.491C>A (p.Ser164Ter)
18g.3457603C>GCA401723616TGIF1c.422C>G (p.Ser141Ter)
c.482C>G (p.Ser161Ter)
c.869C>G (p.Ser290Ter)
c.*195C>G (n.*195C>G)
c.524C>G (p.Ser175Ter)
c.491C>G (p.Ser164Ter)
18g.3457603C>TCA401723615TGIF1c.422C>T (p.Ser141Leu)
c.482C>T (p.Ser161Leu)
c.869C>T (p.Ser290Leu)
c.*195C>T (n.*195C>T)
c.524C>T (p.Ser175Leu)
c.491C>T (p.Ser164Leu)
18g.3457604A=CA2281035591TGIF1c.423A= (p.Ser141=)
c.483A= (p.Ser161=)
c.870A= (p.Ser290=)
c.*196A= (n.*196A=)
c.525A= (p.Ser175=)
c.492A= (p.Ser164=)
18g.3457604A>CCA502810582TGIF1c.423A>C (p.Ser141=)
c.483A>C (p.Ser161=)
c.870A>C (p.Ser290=)
c.*196A>C (n.*196A>C)
c.525A>C (p.Ser175=)
c.492A>C (p.Ser164=)
18g.3457604A>GCA8875962TGIF1c.423A>G (p.Ser141=)
c.483A>G (p.Ser161=)
c.870A>G (p.Ser290=)
c.*196A>G (n.*196A>G)
c.525A>G (p.Ser175=)
c.492A>G (p.Ser164=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457604A>TCA502810584TGIF1c.423A>T (p.Ser141=)
c.483A>T (p.Ser161=)
c.870A>T (p.Ser290=)
c.*196A>T (n.*196A>T)
c.525A>T (p.Ser175=)
c.492A>T (p.Ser164=)
18g.3457605T>ACA401723617TGIF1c.424T>A (p.Ser142Thr)
c.484T>A (p.Ser162Thr)
c.871T>A (p.Ser291Thr)
c.526T>A (p.Ser176Thr)
c.493T>A (p.Ser165Thr)
18g.3457605T>CCA401723618TGIF1c.424T>C (p.Ser142Pro)
c.484T>C (p.Ser162Pro)
c.871T>C (p.Ser291Pro)
c.526T>C (p.Ser176Pro)
c.493T>C (p.Ser165Pro)
18g.3457605T>GCA401723619TGIF1c.424T>G (p.Ser142Ala)
c.484T>G (p.Ser162Ala)
c.871T>G (p.Ser291Ala)
c.526T>G (p.Ser176Ala)
c.493T>G (p.Ser165Ala)
18g.3457606C>ACA401723620TGIF1c.425C>A (p.Ser142Tyr)
c.485C>A (p.Ser162Tyr)
c.872C>A (p.Ser291Tyr)
c.527C>A (p.Ser176Tyr)
c.494C>A (p.Ser165Tyr)
18g.3457606C=CA2281035592TGIF1c.425C= (p.Ser142=)
c.485C= (p.Ser162=)
c.872C= (p.Ser291=)
c.527C= (p.Ser176=)
c.494C= (p.Ser165=)
18g.3457606C>GCA401723621TGIF1c.425C>G (p.Ser142Cys)
c.485C>G (p.Ser162Cys)
c.872C>G (p.Ser291Cys)
c.527C>G (p.Ser176Cys)
c.494C>G (p.Ser165Cys)
gnomAD v4
18g.3457606C>TCA254030TGIF1c.425C>T (p.Ser142Phe)
c.485C>T (p.Ser162Phe)
c.872C>T (p.Ser291Phe)
c.527C>T (p.Ser176Phe)
c.494C>T (p.Ser165Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.3457607C>ACA502810585TGIF1c.426C>A (p.Ser142=)
c.486C>A (p.Ser162=)
c.873C>A (p.Ser291=)
c.528C>A (p.Ser176=)
c.495C>A (p.Ser165=)
18g.3457607C>GCA502810586TGIF1c.426C>G (p.Ser142=)
c.486C>G (p.Ser162=)
c.873C>G (p.Ser291=)
c.528C>G (p.Ser176=)
c.495C>G (p.Ser165=)
gnomAD v4
18g.3457607C>TCA502810587TGIF1c.426C>T (p.Ser142=)
c.486C>T (p.Ser162=)
c.873C>T (p.Ser291=)
c.528C>T (p.Ser176=)
c.495C>T (p.Ser165=)
gnomAD v4
18g.3457608C>ACA401723622TGIF1c.427C>A (p.Pro143Thr)
c.487C>A (p.Pro163Thr)
c.874C>A (p.Pro292Thr)
c.529C>A (p.Pro177Thr)
c.496C>A (p.Pro166Thr)
18g.3457608C=CA2281035593TGIF1c.427C= (p.Pro143=)
c.487C= (p.Pro163=)
c.874C= (p.Pro292=)
c.529C= (p.Pro177=)
c.496C= (p.Pro166=)
18g.3457608C>GCA401723623TGIF1c.427C>G (p.Pro143Ala)
c.487C>G (p.Pro163Ala)
c.874C>G (p.Pro292Ala)
c.529C>G (p.Pro177Ala)
c.496C>G (p.Pro166Ala)
18g.3457608C>TCA8875963TGIF1c.427C>T (p.Pro143Ser)
c.487C>T (p.Pro163Ser)
c.874C>T (p.Pro292Ser)
c.529C>T (p.Pro177Ser)
c.496C>T (p.Pro166Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457609C>ACA401723624TGIF1c.428C>A (p.Pro143Gln)
c.488C>A (p.Pro163Gln)
c.875C>A (p.Pro292Gln)
c.530C>A (p.Pro177Gln)
c.497C>A (p.Pro166Gln)
18g.3457609C=CA2281035594TGIF1c.428C= (p.Pro143=)
c.488C= (p.Pro163=)
c.875C= (p.Pro292=)
c.530C= (p.Pro177=)
c.497C= (p.Pro166=)
18g.3457609C>GCA295567223TGIF1c.428C>G (p.Pro143Arg)
c.488C>G (p.Pro163Arg)
c.875C>G (p.Pro292Arg)
c.530C>G (p.Pro177Arg)
c.497C>G (p.Pro166Arg)
ClinVar dbSNP gnomAD v3 gnomAD v4
18g.3457609C>TCA8875964TGIF1c.428C>T (p.Pro143Leu)
c.488C>T (p.Pro163Leu)
c.875C>T (p.Pro292Leu)
c.530C>T (p.Pro177Leu)
c.497C>T (p.Pro166Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457610G>ACA8875965TGIF1c.429G>A (p.Pro143=)
c.489G>A (p.Pro163=)
c.876G>A (p.Pro292=)
c.531G>A (p.Pro177=)
c.498G>A (p.Pro166=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457610G>CCA502810588TGIF1c.429G>C (p.Pro143=)
c.489G>C (p.Pro163=)
c.876G>C (p.Pro292=)
c.531G>C (p.Pro177=)
c.498G>C (p.Pro166=)
18g.3457610G=CA2281035595TGIF1c.429G= (p.Pro143=)
c.489G= (p.Pro163=)
c.876G= (p.Pro292=)
c.531G= (p.Pro177=)
c.498G= (p.Pro166=)
18g.3457610G>TCA502810589TGIF1c.429G>T (p.Pro143=)
c.489G>T (p.Pro163=)
c.876G>T (p.Pro292=)
c.531G>T (p.Pro177=)
c.498G>T (p.Pro166=)
18g.3457611G>ACA401723625TGIF1c.430G>A (p.Gly144Arg)
c.490G>A (p.Gly164Arg)
c.877G>A (p.Gly293Arg)
c.532G>A (p.Gly178Arg)
c.499G>A (p.Gly167Arg)
18g.3457611G>CCA401723626TGIF1c.430G>C (p.Gly144Arg)
c.490G>C (p.Gly164Arg)
c.877G>C (p.Gly293Arg)
c.532G>C (p.Gly178Arg)
c.499G>C (p.Gly167Arg)
18g.3457611G>TCA401723627TGIF1c.430G>T (p.Gly144Ter)
c.490G>T (p.Gly164Ter)
c.877G>T (p.Gly293Ter)
c.532G>T (p.Gly178Ter)
c.499G>T (p.Gly167Ter)
18g.3457612G>ACA401723630TGIF1c.431G>A (p.Gly144Glu)
c.491G>A (p.Gly164Glu)
c.878G>A (p.Gly293Glu)
c.533G>A (p.Gly178Glu)
c.500G>A (p.Gly167Glu)
18g.3457612G>CCA401723629TGIF1c.431G>C (p.Gly144Ala)
c.491G>C (p.Gly164Ala)
c.878G>C (p.Gly293Ala)
c.533G>C (p.Gly178Ala)
c.500G>C (p.Gly167Ala)
18g.3457612G>TCA401723628TGIF1c.431G>T (p.Gly144Val)
c.491G>T (p.Gly164Val)
c.878G>T (p.Gly293Val)
c.533G>T (p.Gly178Val)
c.500G>T (p.Gly167Val)
18g.3457613delCA645599952TGIF1c.432del (p.Ser145GlnfsTer8)
c.492del (p.Ser165GlnfsTer8)
c.879del (p.Ser294GlnfsTer8)
c.534del (p.Ser179GlnfsTer8)
c.501del (p.Ser168GlnfsTer8)
COSMIC COSMIC
18g.3457613A=CA2281035596TGIF1c.432A= (p.Gly144=)
c.492A= (p.Gly164=)
c.879A= (p.Gly293=)
c.534A= (p.Gly178=)
c.501A= (p.Gly167=)
18g.3457613A>CCA502810591TGIF1c.432A>C (p.Gly144=)
c.492A>C (p.Gly164=)
c.879A>C (p.Gly293=)
c.534A>C (p.Gly178=)
c.501A>C (p.Gly167=)
18g.3457613A>GCA502810592TGIF1c.432A>G (p.Gly144=)
c.492A>G (p.Gly164=)
c.879A>G (p.Gly293=)
c.534A>G (p.Gly178=)
c.501A>G (p.Gly167=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.3457613A>TCA502810593TGIF1c.432A>T (p.Gly144=)
c.492A>T (p.Gly164=)
c.879A>T (p.Gly293=)
c.534A>T (p.Gly178=)
c.501A>T (p.Gly167=)
18g.3457614T>ACA401723631TGIF1c.433T>A (p.Ser145Thr)
c.493T>A (p.Ser165Thr)
c.880T>A (p.Ser294Thr)
c.535T>A (p.Ser179Thr)
c.502T>A (p.Ser168Thr)
18g.3457614T>CCA401723632TGIF1c.433T>C (p.Ser145Pro)
c.493T>C (p.Ser165Pro)
c.880T>C (p.Ser294Pro)
c.535T>C (p.Ser179Pro)
c.502T>C (p.Ser168Pro)
18g.3457614T>GCA401723633TGIF1c.433T>G (p.Ser145Ala)
c.493T>G (p.Ser165Ala)
c.880T>G (p.Ser294Ala)
c.535T>G (p.Ser179Ala)
c.502T>G (p.Ser168Ala)
18g.3457615C>ACA401723634TGIF1c.434C>A (p.Ser145Ter)
c.494C>A (p.Ser165Ter)
c.881C>A (p.Ser294Ter)
c.536C>A (p.Ser179Ter)
c.503C>A (p.Ser168Ter)
gnomAD v4
18g.3457615C=CA2281035597TGIF1c.434C= (p.Ser145=)
c.494C= (p.Ser165=)
c.881C= (p.Ser294=)
c.536C= (p.Ser179=)
c.503C= (p.Ser168=)
18g.3457615C>GCA401723635TGIF1c.434C>G (p.Ser145Ter)
c.494C>G (p.Ser165Ter)
c.881C>G (p.Ser294Ter)
c.536C>G (p.Ser179Ter)
c.503C>G (p.Ser168Ter)
18g.3457615C>TCA401723636TGIF1c.434C>T (p.Ser145Leu)
c.494C>T (p.Ser165Leu)
c.881C>T (p.Ser294Leu)
c.536C>T (p.Ser179Leu)
c.503C>T (p.Ser168Leu)
dbSNP gnomAD v3 gnomAD v4
18g.3457616A>CCA502810595TGIF1c.435A>C (p.Ser145=)
c.495A>C (p.Ser165=)
c.882A>C (p.Ser294=)
c.537A>C (p.Ser179=)
c.504A>C (p.Ser168=)
18g.3457616A>GCA502810596TGIF1c.435A>G (p.Ser145=)
c.495A>G (p.Ser165=)
c.882A>G (p.Ser294=)
c.537A>G (p.Ser179=)
c.504A>G (p.Ser168=)
gnomAD v4
18g.3457616A>TCA502810599TGIF1c.435A>T (p.Ser145=)
c.495A>T (p.Ser165=)
c.882A>T (p.Ser294=)
c.537A>T (p.Ser179=)
c.504A>T (p.Ser168=)
dbSNP
18g.3457617G>ACA8875966TGIF1c.436G>A (p.Val146Ile)
c.496G>A (p.Val166Ile)
c.883G>A (p.Val295Ile)
c.538G>A (p.Val180Ile)
c.505G>A (p.Val169Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457617G>CCA401723637TGIF1c.436G>C (p.Val146Leu)
c.496G>C (p.Val166Leu)
c.883G>C (p.Val295Leu)
c.538G>C (p.Val180Leu)
c.505G>C (p.Val169Leu)
18g.3457617G=CA2281035598TGIF1c.436G= (p.Val146=)
c.496G= (p.Val166=)
c.883G= (p.Val295=)
c.538G= (p.Val180=)
c.505G= (p.Val169=)
18g.3457617G>TCA401723638TGIF1c.436G>T (p.Val146Phe)
c.496G>T (p.Val166Phe)
c.883G>T (p.Val295Phe)
c.538G>T (p.Val180Phe)
c.505G>T (p.Val169Phe)
18g.3457618T>ACA401723639TGIF1c.437T>A (p.Val146Asp)
c.497T>A (p.Val166Asp)
c.884T>A (p.Val295Asp)
c.539T>A (p.Val180Asp)
c.506T>A (p.Val169Asp)
18g.3457618T>CCA401723640TGIF1c.437T>C (p.Val146Ala)
c.497T>C (p.Val166Ala)
c.884T>C (p.Val295Ala)
c.539T>C (p.Val180Ala)
c.506T>C (p.Val169Ala)
18g.3457618T>GCA401723641TGIF1c.437T>G (p.Val146Gly)
c.497T>G (p.Val166Gly)
c.884T>G (p.Val295Gly)
c.539T>G (p.Val180Gly)
c.506T>G (p.Val169Gly)
18g.3457619T>ACA502810601TGIF1c.438T>A (p.Val146=)
c.498T>A (p.Val166=)
c.885T>A (p.Val295=)
c.540T>A (p.Val180=)
c.507T>A (p.Val169=)
18g.3457619T>CCA502810602TGIF1c.438T>C (p.Val146=)
c.498T>C (p.Val166=)
c.885T>C (p.Val295=)
c.540T>C (p.Val180=)
c.507T>C (p.Val169=)
18g.3457619T>GCA502810604TGIF1c.438T>G (p.Val146=)
c.498T>G (p.Val166=)
c.885T>G (p.Val295=)
c.540T>G (p.Val180=)
c.507T>G (p.Val169=)
18g.3457620T>ACA401723642TGIF1c.439T>A (p.Leu147Met)
c.499T>A (p.Leu167Met)
c.886T>A (p.Leu296Met)
c.541T>A (p.Leu181Met)
c.508T>A (p.Leu170Met)
18g.3457620T>CCA502810608TGIF1c.439T>C (p.Leu147=)
c.499T>C (p.Leu167=)
c.886T>C (p.Leu296=)
c.541T>C (p.Leu181=)
c.508T>C (p.Leu170=)
gnomAD v4
18g.3457620T>GCA401723643TGIF1c.439T>G (p.Leu147Val)
c.499T>G (p.Leu167Val)
c.886T>G (p.Leu296Val)
c.541T>G (p.Leu181Val)
c.508T>G (p.Leu170Val)
18g.3457621T>ACA401723644TGIF1c.440T>A (p.Leu147Ter)
c.500T>A (p.Leu167Ter)
c.887T>A (p.Leu296Ter)
c.542T>A (p.Leu181Ter)
c.509T>A (p.Leu170Ter)
18g.3457621T>CCA401723646TGIF1c.440T>C (p.Leu147Ser)
c.500T>C (p.Leu167Ser)
c.887T>C (p.Leu296Ser)
c.542T>C (p.Leu181Ser)
c.509T>C (p.Leu170Ser)
dbSNP
18g.3457621T>GCA401723645TGIF1c.440T>G (p.Leu147Trp)
c.500T>G (p.Leu167Trp)
c.887T>G (p.Leu296Trp)
c.542T>G (p.Leu181Trp)
c.509T>G (p.Leu170Trp)
18g.3457621T=CA2281035599TGIF1c.440T= (p.Leu147=)
c.500T= (p.Leu167=)
c.887T= (p.Leu296=)
c.542T= (p.Leu181=)
c.509T= (p.Leu170=)
18g.3457622G>ACA502810291TGIF1c.441G>A (p.Leu147=)
c.501G>A (p.Leu167=)
c.888G>A (p.Leu296=)
c.543G>A (p.Leu181=)
c.510G>A (p.Leu170=)
gnomAD v4
18g.3457622G>CCA401723647TGIF1c.441G>C (p.Leu147Phe)
c.501G>C (p.Leu167Phe)
c.888G>C (p.Leu296Phe)
c.543G>C (p.Leu181Phe)
c.510G>C (p.Leu170Phe)
18g.3457622G>TCA401723648TGIF1c.441G>T (p.Leu147Phe)
c.501G>T (p.Leu167Phe)
c.888G>T (p.Leu296Phe)
c.543G>T (p.Leu181Phe)
c.510G>T (p.Leu170Phe)
18g.3457623G>ACA401723649TGIF1c.442G>A (p.Ala148Thr)
c.502G>A (p.Ala168Thr)
c.889G>A (p.Ala297Thr)
c.544G>A (p.Ala182Thr)
c.511G>A (p.Ala171Thr)
18g.3457623G>CCA401723650TGIF1c.442G>C (p.Ala148Pro)
c.502G>C (p.Ala168Pro)
c.889G>C (p.Ala297Pro)
c.544G>C (p.Ala182Pro)
c.511G>C (p.Ala171Pro)
18g.3457623G=CA2281035600TGIF1c.442G= (p.Ala148=)
c.502G= (p.Ala168=)
c.889G= (p.Ala297=)
c.544G= (p.Ala182=)
c.511G= (p.Ala171=)
18g.3457623G>TCA401723651TGIF1c.442G>T (p.Ala148Ser)
c.502G>T (p.Ala168Ser)
c.889G>T (p.Ala297Ser)
c.544G>T (p.Ala182Ser)
c.511G>T (p.Ala171Ser)
dbSNP gnomAD v2 gnomAD v4
18g.3457624C>ACA401723652TGIF1c.443C>A (p.Ala148Asp)
c.503C>A (p.Ala168Asp)
c.890C>A (p.Ala297Asp)
c.545C>A (p.Ala182Asp)
c.512C>A (p.Ala171Asp)
18g.3457624C=CA2281035601TGIF1c.443C= (p.Ala148=)
c.503C= (p.Ala168=)
c.890C= (p.Ala297=)
c.545C= (p.Ala182=)
c.512C= (p.Ala171=)
18g.3457624C>GCA401723653TGIF1c.443C>G (p.Ala148Gly)
c.503C>G (p.Ala168Gly)
c.890C>G (p.Ala297Gly)
c.545C>G (p.Ala182Gly)
c.512C>G (p.Ala171Gly)
18g.3457624C>TCA8875967TGIF1c.443C>T (p.Ala148Val)
c.503C>T (p.Ala168Val)
c.890C>T (p.Ala297Val)
c.545C>T (p.Ala182Val)
c.512C>T (p.Ala171Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457625T>ACA502810292TGIF1c.444T>A (p.Ala148=)
c.504T>A (p.Ala168=)
c.891T>A (p.Ala297=)
c.546T>A (p.Ala182=)
c.513T>A (p.Ala171=)
18g.3457625T>CCA502810293TGIF1c.444T>C (p.Ala148=)
c.504T>C (p.Ala168=)
c.891T>C (p.Ala297=)
c.546T>C (p.Ala182=)
c.513T>C (p.Ala171=)
gnomAD v4
18g.3457625T>GCA502810294TGIF1c.444T>G (p.Ala148=)
c.504T>G (p.Ala168=)
c.891T>G (p.Ala297=)
c.546T>G (p.Ala182=)
c.513T>G (p.Ala171=)
18g.3457626C>ACA401723654TGIF1c.445C>A (p.Arg149Ser)
c.505C>A (p.Arg169Ser)
c.892C>A (p.Arg298Ser)
c.547C>A (p.Arg183Ser)
c.514C>A (p.Arg172Ser)
gnomAD v4
18g.3457626C=CA2281035602TGIF1c.445C= (p.Arg149=)
c.505C= (p.Arg169=)
c.892C= (p.Arg298=)
c.547C= (p.Arg183=)
c.514C= (p.Arg172=)
18g.3457626C>GCA401723655TGIF1c.445C>G (p.Arg149Gly)
c.505C>G (p.Arg169Gly)
c.892C>G (p.Arg298Gly)
c.547C>G (p.Arg183Gly)
c.514C>G (p.Arg172Gly)
18g.3457626C>TCA401723656TGIF1c.445C>T (p.Arg149Cys)
c.505C>T (p.Arg169Cys)
c.892C>T (p.Arg298Cys)
c.547C>T (p.Arg183Cys)
c.514C>T (p.Arg172Cys)
dbSNP gnomAD v4
18g.3457627G>ACA295567245TGIF1c.446G>A (p.Arg149His)
c.506G>A (p.Arg169His)
c.893G>A (p.Arg298His)
c.548G>A (p.Arg183His)
c.515G>A (p.Arg172His)
ClinVar dbSNP gnomAD v4
18g.3457627G>CCA8875968TGIF1c.446G>C (p.Arg149Pro)
c.506G>C (p.Arg169Pro)
c.893G>C (p.Arg298Pro)
c.548G>C (p.Arg183Pro)
c.515G>C (p.Arg172Pro)
dbSNP ExAC
18g.3457627G=CA2281035603TGIF1c.446G= (p.Arg149=)
c.506G= (p.Arg169=)
c.893G= (p.Arg298=)
c.548G= (p.Arg183=)
c.515G= (p.Arg172=)
18g.3457627G>TCA401723657TGIF1c.446G>T (p.Arg149Leu)
c.506G>T (p.Arg169Leu)
c.893G>T (p.Arg298Leu)
c.548G>T (p.Arg183Leu)
c.515G>T (p.Arg172Leu)
18g.3457628T>ACA502810296TGIF1c.447T>A (p.Arg149=)
c.507T>A (p.Arg169=)
c.894T>A (p.Arg298=)
c.549T>A (p.Arg183=)
c.516T>A (p.Arg172=)
18g.3457628T>CCA502810297TGIF1c.447T>C (p.Arg149=)
c.507T>C (p.Arg169=)
c.894T>C (p.Arg298=)
c.549T>C (p.Arg183=)
c.516T>C (p.Arg172=)
18g.3457628T>GCA502810295TGIF1c.447T>G (p.Arg149=)
c.507T>G (p.Arg169=)
c.894T>G (p.Arg298=)
c.549T>G (p.Arg183=)
c.516T>G (p.Arg172=)
18g.3457629C>ACA401723658TGIF1c.448C>A (p.Pro150Thr)
c.508C>A (p.Pro170Thr)
c.895C>A (p.Pro299Thr)
c.550C>A (p.Pro184Thr)
c.517C>A (p.Pro173Thr)
18g.3457629C=CA2281035604TGIF1c.448C= (p.Pro150=)
c.508C= (p.Pro170=)
c.895C= (p.Pro299=)
c.550C= (p.Pro184=)
c.517C= (p.Pro173=)
18g.3457629C>GCA401723659TGIF1c.448C>G (p.Pro150Ala)
c.508C>G (p.Pro170Ala)
c.895C>G (p.Pro299Ala)
c.550C>G (p.Pro184Ala)
c.517C>G (p.Pro173Ala)
dbSNP
18g.3457629C>TCA8875969TGIF1c.448C>T (p.Pro150Ser)
c.508C>T (p.Pro170Ser)
c.895C>T (p.Pro299Ser)
c.550C>T (p.Pro184Ser)
c.517C>T (p.Pro173Ser)
dbSNP ExAC gnomAD v2
18g.3457630C>ACA401723660TGIF1c.449C>A (p.Pro150Gln)
c.509C>A (p.Pro170Gln)
c.896C>A (p.Pro299Gln)
c.551C>A (p.Pro184Gln)
c.518C>A (p.Pro173Gln)
18g.3457630C>GCA401723661TGIF1c.449C>G (p.Pro150Arg)
c.509C>G (p.Pro170Arg)
c.896C>G (p.Pro299Arg)
c.551C>G (p.Pro184Arg)
c.518C>G (p.Pro173Arg)
18g.3457630C>TCA401723662TGIF1c.449C>T (p.Pro150Leu)
c.509C>T (p.Pro170Leu)
c.896C>T (p.Pro299Leu)
c.551C>T (p.Pro184Leu)
c.518C>T (p.Pro173Leu)
COSMIC COSMIC
18g.3457631A=CA2281035605TGIF1c.450A= (p.Pro150=)
c.510A= (p.Pro170=)
c.897A= (p.Pro299=)
c.552A= (p.Pro184=)
c.519A= (p.Pro173=)
18g.3457631A>CCA502810299TGIF1c.450A>C (p.Pro150=)
c.510A>C (p.Pro170=)
c.897A>C (p.Pro299=)
c.552A>C (p.Pro184=)
c.519A>C (p.Pro173=)
dbSNP
18g.3457631A>GCA502810298TGIF1c.450A>G (p.Pro150=)
c.510A>G (p.Pro170=)
c.897A>G (p.Pro299=)
c.552A>G (p.Pro184=)
c.519A>G (p.Pro173=)
gnomAD v4
18g.3457631A>TCA502810300TGIF1c.450A>T (p.Pro150=)
c.510A>T (p.Pro170=)
c.897A>T (p.Pro299=)
c.552A>T (p.Pro184=)
c.519A>T (p.Pro173=)
18g.3457632T>ACA401723663TGIF1c.451T>A (p.Ser151Thr)
c.511T>A (p.Ser171Thr)
c.898T>A (p.Ser300Thr)
c.553T>A (p.Ser185Thr)
c.520T>A (p.Ser174Thr)
18g.3457632T>CCA401723664TGIF1c.451T>C (p.Ser151Pro)
c.511T>C (p.Ser171Pro)
c.898T>C (p.Ser300Pro)
c.553T>C (p.Ser185Pro)
c.520T>C (p.Ser174Pro)
gnomAD v4
18g.3457632T>GCA401723665TGIF1c.451T>G (p.Ser151Ala)
c.511T>G (p.Ser171Ala)
c.898T>G (p.Ser300Ala)
c.553T>G (p.Ser185Ala)
c.520T>G (p.Ser174Ala)
18g.3457633C>ACA401723666TGIF1c.452C>A (p.Ser151Ter)
c.512C>A (p.Ser171Ter)
c.899C>A (p.Ser300Ter)
c.554C>A (p.Ser185Ter)
c.521C>A (p.Ser174Ter)
18g.3457633C>GCA401723667TGIF1c.452C>G (p.Ser151Ter)
c.512C>G (p.Ser171Ter)
c.899C>G (p.Ser300Ter)
c.554C>G (p.Ser185Ter)
c.521C>G (p.Ser174Ter)
18g.3457633C>TCA401723668TGIF1c.452C>T (p.Ser151Leu)
c.512C>T (p.Ser171Leu)
c.899C>T (p.Ser300Leu)
c.554C>T (p.Ser185Leu)
c.521C>T (p.Ser174Leu)
18g.3457634A=CA2281035606TGIF1c.453A= (p.Ser151=)
c.513A= (p.Ser171=)
c.900A= (p.Ser300=)
c.555A= (p.Ser185=)
c.522A= (p.Ser174=)
18g.3457634A>CCA502810304TGIF1c.453A>C (p.Ser151=)
c.513A>C (p.Ser171=)
c.900A>C (p.Ser300=)
c.555A>C (p.Ser185=)
c.522A>C (p.Ser174=)
18g.3457634A>GCA8875970TGIF1c.453A>G (p.Ser151=)
c.513A>G (p.Ser171=)
c.900A>G (p.Ser300=)
c.555A>G (p.Ser185=)
c.522A>G (p.Ser174=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457634A>TCA502810305TGIF1c.453A>T (p.Ser151=)
c.513A>T (p.Ser171=)
c.900A>T (p.Ser300=)
c.555A>T (p.Ser185=)
c.522A>T (p.Ser174=)
18g.3457635G>ACA401723669TGIF1c.454G>A (p.Val152Met)
c.514G>A (p.Val172Met)
c.901G>A (p.Val301Met)
c.556G>A (p.Val186Met)
c.523G>A (p.Val175Met)
COSMIC COSMIC
18g.3457635G>CCA401723670TGIF1c.454G>C (p.Val152Leu)
c.514G>C (p.Val172Leu)
c.901G>C (p.Val301Leu)
c.556G>C (p.Val186Leu)
c.523G>C (p.Val175Leu)
18g.3457635G>TCA401723671TGIF1c.454G>T (p.Val152Leu)
c.514G>T (p.Val172Leu)
c.901G>T (p.Val301Leu)
c.556G>T (p.Val186Leu)
c.523G>T (p.Val175Leu)
18g.3457636T>ACA401723674TGIF1c.455T>A (p.Val152Glu)
c.515T>A (p.Val172Glu)
c.902T>A (p.Val301Glu)
c.557T>A (p.Val186Glu)
c.524T>A (p.Val175Glu)
18g.3457636T>CCA401723672TGIF1c.455T>C (p.Val152Ala)
c.515T>C (p.Val172Ala)
c.902T>C (p.Val301Ala)
c.557T>C (p.Val186Ala)
c.524T>C (p.Val175Ala)
18g.3457636T>GCA401723673TGIF1c.455T>G (p.Val152Gly)
c.515T>G (p.Val172Gly)
c.902T>G (p.Val301Gly)
c.557T>G (p.Val186Gly)
c.524T>G (p.Val175Gly)
dbSNP
18g.3457636T=CA2281035607TGIF1c.455T= (p.Val152=)
c.515T= (p.Val172=)
c.902T= (p.Val301=)
c.557T= (p.Val186=)
c.524T= (p.Val175=)
18g.3457637G>ACA502810308TGIF1c.456G>A (p.Val152=)
c.516G>A (p.Val172=)
c.903G>A (p.Val301=)
c.558G>A (p.Val186=)
c.525G>A (p.Val175=)
18g.3457637G>CCA502810309TGIF1c.456G>C (p.Val152=)
c.516G>C (p.Val172=)
c.903G>C (p.Val301=)
c.558G>C (p.Val186=)
c.525G>C (p.Val175=)
18g.3457637G>TCA502810310TGIF1c.456G>T (p.Val152=)
c.516G>T (p.Val172=)
c.903G>T (p.Val301=)
c.558G>T (p.Val186=)
c.525G>T (p.Val175=)
18g.3457638A=CA2281035608TGIF1c.457A= (p.Ile153=)
c.517A= (p.Ile173=)
c.904A= (p.Ile302=)
c.559A= (p.Ile187=)
c.526A= (p.Ile176=)
18g.3457638A>CCA401723675TGIF1c.457A>C (p.Ile153Leu)
c.517A>C (p.Ile173Leu)
c.904A>C (p.Ile302Leu)
c.559A>C (p.Ile187Leu)
c.526A>C (p.Ile176Leu)
18g.3457638A>GCA401723676TGIF1c.457A>G (p.Ile153Val)
c.517A>G (p.Ile173Val)
c.904A>G (p.Ile302Val)
c.559A>G (p.Ile187Val)
c.526A>G (p.Ile176Val)
dbSNP
18g.3457638A>TCA401723677TGIF1c.457A>T (p.Ile153Phe)
c.517A>T (p.Ile173Phe)
c.904A>T (p.Ile302Phe)
c.559A>T (p.Ile187Phe)
c.526A>T (p.Ile176Phe)
18g.3457639T>ACA401723678TGIF1c.458T>A (p.Ile153Asn)
c.518T>A (p.Ile173Asn)
c.905T>A (p.Ile302Asn)
c.560T>A (p.Ile187Asn)
c.527T>A (p.Ile176Asn)
COSMIC COSMIC
18g.3457639T>CCA401723679TGIF1c.458T>C (p.Ile153Thr)
c.518T>C (p.Ile173Thr)
c.905T>C (p.Ile302Thr)
c.560T>C (p.Ile187Thr)
c.527T>C (p.Ile176Thr)
dbSNP gnomAD v4
18g.3457639T>GCA401723680TGIF1c.458T>G (p.Ile153Ser)
c.518T>G (p.Ile173Ser)
c.905T>G (p.Ile302Ser)
c.560T>G (p.Ile187Ser)
c.527T>G (p.Ile176Ser)
18g.3457639T=CA2281035609TGIF1c.458T= (p.Ile153=)
c.518T= (p.Ile173=)
c.905T= (p.Ile302=)
c.560T= (p.Ile187=)
c.527T= (p.Ile176=)
18g.3457640_3457641dupCA645599953TGIF1c.459_460dup (p.Cys154SerfsTer6)
c.519_520dup (p.Cys174SerfsTer6)
c.906_907dup (p.Cys303SerfsTer6)
c.561_562dup (p.Cys188SerfsTer6)
c.528_529dup (p.Cys177SerfsTer6)
COSMIC COSMIC
18g.3457640C>ACA502810314TGIF1c.459C>A (p.Ile153=)
c.519C>A (p.Ile173=)
c.906C>A (p.Ile302=)
c.561C>A (p.Ile187=)
c.528C>A (p.Ile176=)
18g.3457640C>GCA401723681TGIF1c.459C>G (p.Ile153Met)
c.519C>G (p.Ile173Met)
c.906C>G (p.Ile302Met)
c.561C>G (p.Ile187Met)
c.528C>G (p.Ile176Met)
18g.3457640C>TCA502810312TGIF1c.459C>T (p.Ile153=)
c.519C>T (p.Ile173=)
c.906C>T (p.Ile302=)
c.561C>T (p.Ile187=)
c.528C>T (p.Ile176=)
18g.3457641T>ACA401723682TGIF1c.460T>A (p.Cys154Ser)
c.520T>A (p.Cys174Ser)
c.907T>A (p.Cys303Ser)
c.562T>A (p.Cys188Ser)
c.529T>A (p.Cys177Ser)
18g.3457641T>CCA401723683TGIF1c.460T>C (p.Cys154Arg)
c.520T>C (p.Cys174Arg)
c.907T>C (p.Cys303Arg)
c.562T>C (p.Cys188Arg)
c.529T>C (p.Cys177Arg)
18g.3457641T>GCA401723684TGIF1c.460T>G (p.Cys154Gly)
c.520T>G (p.Cys174Gly)
c.907T>G (p.Cys303Gly)
c.562T>G (p.Cys188Gly)
c.529T>G (p.Cys177Gly)
18g.3457642G>ACA401723685TGIF1c.461G>A (p.Cys154Tyr)
c.521G>A (p.Cys174Tyr)
c.908G>A (p.Cys303Tyr)
c.563G>A (p.Cys188Tyr)
c.530G>A (p.Cys177Tyr)
18g.3457642G>CCA401723686TGIF1c.461G>C (p.Cys154Ser)
c.521G>C (p.Cys174Ser)
c.908G>C (p.Cys303Ser)
c.563G>C (p.Cys188Ser)
c.530G>C (p.Cys177Ser)
dbSNP
18g.3457642G=CA2281035610TGIF1c.461G= (p.Cys154=)
c.521G= (p.Cys174=)
c.908G= (p.Cys303=)
c.563G= (p.Cys188=)
c.530G= (p.Cys177=)
18g.3457642G>TCA401723687TGIF1c.461G>T (p.Cys154Phe)
c.521G>T (p.Cys174Phe)
c.908G>T (p.Cys303Phe)
c.563G>T (p.Cys188Phe)
c.530G>T (p.Cys177Phe)
ClinVar dbSNP gnomAD v4
18g.3457643C>ACA401723688TGIF1c.462C>A (p.Cys154Ter)
c.522C>A (p.Cys174Ter)
c.909C>A (p.Cys303Ter)
c.564C>A (p.Cys188Ter)
c.531C>A (p.Cys177Ter)
COSMIC COSMIC
18g.3457643C=CA2281035611TGIF1c.462C= (p.Cys154=)
c.522C= (p.Cys174=)
c.909C= (p.Cys303=)
c.564C= (p.Cys188=)
c.531C= (p.Cys177=)
18g.3457643C>GCA401723689TGIF1c.462C>G (p.Cys154Trp)
c.522C>G (p.Cys174Trp)
c.909C>G (p.Cys303Trp)
c.564C>G (p.Cys188Trp)
c.531C>G (p.Cys177Trp)
18g.3457643C>TCA502810315TGIF1c.462C>T (p.Cys154=)
c.522C>T (p.Cys174=)
c.909C>T (p.Cys303=)
c.564C>T (p.Cys188=)
c.531C>T (p.Cys177=)
dbSNP gnomAD v3 gnomAD v4
18g.3457644C>ACA401723690TGIF1c.463C>A (p.His155Asn)
c.523C>A (p.His175Asn)
c.910C>A (p.His304Asn)
c.565C>A (p.His189Asn)
c.532C>A (p.His178Asn)
18g.3457644C=CA2281035612TGIF1c.463C= (p.His155=)
c.523C= (p.His175=)
c.910C= (p.His304=)
c.565C= (p.His189=)
c.532C= (p.His178=)
18g.3457644C>GCA401723692TGIF1c.463C>G (p.His155Asp)
c.523C>G (p.His175Asp)
c.910C>G (p.His304Asp)
c.565C>G (p.His189Asp)
c.532C>G (p.His178Asp)
18g.3457644C>TCA401723691TGIF1c.463C>T (p.His155Tyr)
c.523C>T (p.His175Tyr)
c.910C>T (p.His304Tyr)
c.565C>T (p.His189Tyr)
c.532C>T (p.His178Tyr)
dbSNP
18g.3457645A=CA2281035613TGIF1c.464A= (p.His155=)
c.524A= (p.His175=)
c.911A= (p.His304=)
c.566A= (p.His189=)
c.533A= (p.His178=)
18g.3457645A>CCA401723693TGIF1c.464A>C (p.His155Pro)
c.524A>C (p.His175Pro)
c.911A>C (p.His304Pro)
c.566A>C (p.His189Pro)
c.533A>C (p.His178Pro)
18g.3457645A>GCA295567258TGIF1c.464A>G (p.His155Arg)
c.524A>G (p.His175Arg)
c.911A>G (p.His304Arg)
c.566A>G (p.His189Arg)
c.533A>G (p.His178Arg)
dbSNP gnomAD v3 gnomAD v4
18g.3457645A>TCA401723694TGIF1c.464A>T (p.His155Leu)
c.524A>T (p.His175Leu)
c.911A>T (p.His304Leu)
c.566A>T (p.His189Leu)
c.533A>T (p.His178Leu)
dbSNP
18g.3457646T>ACA401723695TGIF1c.465T>A (p.His155Gln)
c.525T>A (p.His175Gln)
c.912T>A (p.His304Gln)
c.567T>A (p.His189Gln)
c.534T>A (p.His178Gln)
18g.3457646T>CCA502810317TGIF1c.465T>C (p.His155=)
c.525T>C (p.His175=)
c.912T>C (p.His304=)
c.567T>C (p.His189=)
c.534T>C (p.His178=)
dbSNP gnomAD v4
18g.3457646T>GCA401723696TGIF1c.465T>G (p.His155Gln)
c.525T>G (p.His175Gln)
c.912T>G (p.His304Gln)
c.567T>G (p.His189Gln)
c.534T>G (p.His178Gln)
18g.3457646T=CA2281035614TGIF1c.465T= (p.His155=)
c.525T= (p.His175=)
c.912T= (p.His304=)
c.567T= (p.His189=)
c.534T= (p.His178=)
18g.3457647A=CA2281035615TGIF1c.466A= (p.Thr156=)
c.526A= (p.Thr176=)
c.913A= (p.Thr305=)
c.568A= (p.Thr190=)
c.535A= (p.Thr179=)
18g.3457647A>CCA401723697TGIF1c.466A>C (p.Thr156Pro)
c.526A>C (p.Thr176Pro)
c.913A>C (p.Thr305Pro)
c.568A>C (p.Thr190Pro)
c.535A>C (p.Thr179Pro)
18g.3457647A>GCA8875971TGIF1c.466A>G (p.Thr156Ala)
c.526A>G (p.Thr176Ala)
c.913A>G (p.Thr305Ala)
c.568A>G (p.Thr190Ala)
c.535A>G (p.Thr179Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457647A>TCA401723698TGIF1c.466A>T (p.Thr156Ser)
c.526A>T (p.Thr176Ser)
c.913A>T (p.Thr305Ser)
c.568A>T (p.Thr190Ser)
c.535A>T (p.Thr179Ser)
dbSNP gnomAD v2 gnomAD v4
18g.3457648C>ACA401723699TGIF1c.467C>A (p.Thr156Asn)
c.527C>A (p.Thr176Asn)
c.914C>A (p.Thr305Asn)
c.569C>A (p.Thr190Asn)
c.536C>A (p.Thr179Asn)
18g.3457648C=CA2281035616TGIF1c.467C= (p.Thr156=)
c.527C= (p.Thr176=)
c.914C= (p.Thr305=)
c.569C= (p.Thr190=)
c.536C= (p.Thr179=)
18g.3457648C>GCA401723700TGIF1c.467C>G (p.Thr156Ser)
c.527C>G (p.Thr176Ser)
c.914C>G (p.Thr305Ser)
c.569C>G (p.Thr190Ser)
c.536C>G (p.Thr179Ser)
dbSNP
18g.3457648C>TCA401723701TGIF1c.467C>T (p.Thr156Ile)
c.527C>T (p.Thr176Ile)
c.914C>T (p.Thr305Ile)
c.569C>T (p.Thr190Ile)
c.536C>T (p.Thr179Ile)
18g.3457649C>ACA502810319TGIF1c.468C>A (p.Thr156=)
c.528C>A (p.Thr176=)
c.915C>A (p.Thr305=)
c.570C>A (p.Thr190=)
c.537C>A (p.Thr179=)
18g.3457649C=CA2281035617TGIF1c.468C= (p.Thr156=)
c.528C= (p.Thr176=)
c.915C= (p.Thr305=)
c.570C= (p.Thr190=)
c.537C= (p.Thr179=)
18g.3457649C>GCA502810321TGIF1c.468C>G (p.Thr156=)
c.528C>G (p.Thr176=)
c.915C>G (p.Thr305=)
c.570C>G (p.Thr190=)
c.537C>G (p.Thr179=)
18g.3457649C>TCA502810322TGIF1c.468C>T (p.Thr156=)
c.528C>T (p.Thr176=)
c.915C>T (p.Thr305=)
c.570C>T (p.Thr190=)
c.537C>T (p.Thr179=)
dbSNP gnomAD v4
18g.3457650A=CA2281035618TGIF1c.469A= (p.Thr157=)
c.529A= (p.Thr177=)
c.916A= (p.Thr306=)
c.571A= (p.Thr191=)
c.538A= (p.Thr180=)
18g.3457650A>CCA401723704TGIF1c.469A>C (p.Thr157Pro)
c.529A>C (p.Thr177Pro)
c.916A>C (p.Thr306Pro)
c.571A>C (p.Thr191Pro)
c.538A>C (p.Thr180Pro)
18g.3457650A>GCA401723703TGIF1c.469A>G (p.Thr157Ala)
c.529A>G (p.Thr177Ala)
c.916A>G (p.Thr306Ala)
c.571A>G (p.Thr191Ala)
c.538A>G (p.Thr180Ala)
dbSNP gnomAD v2 gnomAD v4
18g.3457650A>TCA401723702TGIF1c.469A>T (p.Thr157Ser)
c.529A>T (p.Thr177Ser)
c.916A>T (p.Thr306Ser)
c.571A>T (p.Thr191Ser)
c.538A>T (p.Thr180Ser)
18g.3457651C>ACA401723705TGIF1c.470C>A (p.Thr157Asn)
c.530C>A (p.Thr177Asn)
c.917C>A (p.Thr306Asn)
c.572C>A (p.Thr191Asn)
c.539C>A (p.Thr180Asn)
18g.3457651C=CA2281035619TGIF1c.470C= (p.Thr157=)
c.530C= (p.Thr177=)
c.917C= (p.Thr306=)
c.572C= (p.Thr191=)
c.539C= (p.Thr180=)
18g.3457651C>GCA401723706TGIF1c.470C>G (p.Thr157Ser)
c.530C>G (p.Thr177Ser)
c.917C>G (p.Thr306Ser)
c.572C>G (p.Thr191Ser)
c.539C>G (p.Thr180Ser)
dbSNP gnomAD v3 gnomAD v4
18g.3457651C>TCA401723707TGIF1c.470C>T (p.Thr157Ile)
c.530C>T (p.Thr177Ile)
c.917C>T (p.Thr306Ile)
c.572C>T (p.Thr191Ile)
c.539C>T (p.Thr180Ile)
gnomAD v4
18g.3457652T>ACA502810324TGIF1c.471T>A (p.Thr157=)
c.531T>A (p.Thr177=)
c.918T>A (p.Thr306=)
c.573T>A (p.Thr191=)
c.540T>A (p.Thr180=)
18g.3457652T>CCA502810325TGIF1c.471T>C (p.Thr157=)
c.531T>C (p.Thr177=)
c.918T>C (p.Thr306=)
c.573T>C (p.Thr191=)
c.540T>C (p.Thr180=)
dbSNP gnomAD v3 gnomAD v4
18g.3457652T>GCA502810323TGIF1c.471T>G (p.Thr157=)
c.531T>G (p.Thr177=)
c.918T>G (p.Thr306=)
c.573T>G (p.Thr191=)
c.540T>G (p.Thr180=)
gnomAD v4
18g.3457652T=CA2281035620TGIF1c.471T= (p.Thr157=)
c.531T= (p.Thr177=)
c.918T= (p.Thr306=)
c.573T= (p.Thr191=)
c.540T= (p.Thr180=)
18g.3457653G>ACA401723708TGIF1c.472G>A (p.Val158Met)
c.532G>A (p.Val178Met)
c.919G>A (p.Val307Met)
c.574G>A (p.Val192Met)
c.541G>A (p.Val181Met)
18g.3457653G>CCA401723709TGIF1c.472G>C (p.Val158Leu)
c.532G>C (p.Val178Leu)
c.919G>C (p.Val307Leu)
c.574G>C (p.Val192Leu)
c.541G>C (p.Val181Leu)
18g.3457653G>TCA401723710TGIF1c.472G>T (p.Val158Leu)
c.532G>T (p.Val178Leu)
c.919G>T (p.Val307Leu)
c.574G>T (p.Val192Leu)
c.541G>T (p.Val181Leu)
18g.3457654T>ACA401723711TGIF1c.473T>A (p.Val158Glu)
c.533T>A (p.Val178Glu)
c.920T>A (p.Val307Glu)
c.575T>A (p.Val192Glu)
c.542T>A (p.Val181Glu)
18g.3457654T>CCA295567267TGIF1c.473T>C (p.Val158Ala)
c.533T>C (p.Val178Ala)
c.920T>C (p.Val307Ala)
c.575T>C (p.Val192Ala)
c.542T>C (p.Val181Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.3457654T>GCA401723712TGIF1c.473T>G (p.Val158Gly)
c.533T>G (p.Val178Gly)
c.920T>G (p.Val307Gly)
c.575T>G (p.Val192Gly)
c.542T>G (p.Val181Gly)
18g.3457654T=CA2281035621TGIF1c.473T= (p.Val158=)
c.533T= (p.Val178=)
c.920T= (p.Val307=)
c.575T= (p.Val192=)
c.542T= (p.Val181=)
18g.3457655G>ACA502810327TGIF1c.474G>A (p.Val158=)
c.534G>A (p.Val178=)
c.921G>A (p.Val307=)
c.576G>A (p.Val192=)
c.543G>A (p.Val181=)
18g.3457655G>CCA502810326TGIF1c.474G>C (p.Val158=)
c.534G>C (p.Val178=)
c.921G>C (p.Val307=)
c.576G>C (p.Val192=)
c.543G>C (p.Val181=)
18g.3457655G>TCA502810329TGIF1c.474G>T (p.Val158=)
c.534G>T (p.Val178=)
c.921G>T (p.Val307=)
c.576G>T (p.Val192=)
c.543G>T (p.Val181=)
18g.3457656A>CCA401723713TGIF1c.475A>C (p.Thr159Pro)
c.535A>C (p.Thr179Pro)
c.922A>C (p.Thr308Pro)
c.577A>C (p.Thr193Pro)
c.544A>C (p.Thr182Pro)
18g.3457656A>GCA401723714TGIF1c.475A>G (p.Thr159Ala)
c.535A>G (p.Thr179Ala)
c.922A>G (p.Thr308Ala)
c.577A>G (p.Thr193Ala)
c.544A>G (p.Thr182Ala)
18g.3457656A>TCA401723715TGIF1c.475A>T (p.Thr159Ser)
c.535A>T (p.Thr179Ser)
c.922A>T (p.Thr308Ser)
c.577A>T (p.Thr193Ser)
c.544A>T (p.Thr182Ser)
18g.3457657C>ACA401723716TGIF1c.476C>A (p.Thr159Asn)
c.536C>A (p.Thr179Asn)
c.923C>A (p.Thr308Asn)
c.578C>A (p.Thr193Asn)
c.545C>A (p.Thr182Asn)
18g.3457657C>GCA401723718TGIF1c.476C>G (p.Thr159Ser)
c.536C>G (p.Thr179Ser)
c.923C>G (p.Thr308Ser)
c.578C>G (p.Thr193Ser)
c.545C>G (p.Thr182Ser)
18g.3457657C>TCA401723717TGIF1c.476C>T (p.Thr159Ile)
c.536C>T (p.Thr179Ile)
c.923C>T (p.Thr308Ile)
c.578C>T (p.Thr193Ile)
c.545C>T (p.Thr182Ile)
18g.3457658T>ACA502810332TGIF1c.477T>A (p.Thr159=)
c.537T>A (p.Thr179=)
c.924T>A (p.Thr308=)
c.579T>A (p.Thr193=)
c.546T>A (p.Thr182=)
18g.3457658T>CCA502810333TGIF1c.477T>C (p.Thr159=)
c.537T>C (p.Thr179=)
c.924T>C (p.Thr308=)
c.579T>C (p.Thr193=)
c.546T>C (p.Thr182=)
gnomAD v4
18g.3457658T>GCA502810335TGIF1c.477T>G (p.Thr159=)
c.537T>G (p.Thr179=)
c.924T>G (p.Thr308=)
c.579T>G (p.Thr193=)
c.546T>G (p.Thr182=)
18g.3457659G>ACA401723719TGIF1c.478G>A (p.Ala160Thr)
c.538G>A (p.Ala180Thr)
c.925G>A (p.Ala309Thr)
c.580G>A (p.Ala194Thr)
c.547G>A (p.Ala183Thr)
18g.3457659G>CCA401723720TGIF1c.478G>C (p.Ala160Pro)
c.538G>C (p.Ala180Pro)
c.925G>C (p.Ala309Pro)
c.580G>C (p.Ala194Pro)
c.547G>C (p.Ala183Pro)
dbSNP
18g.3457659G=CA2281035622TGIF1c.478G= (p.Ala160=)
c.538G= (p.Ala180=)
c.925G= (p.Ala309=)
c.580G= (p.Ala194=)
c.547G= (p.Ala183=)
18g.3457659G>TCA401723721TGIF1c.478G>T (p.Ala160Ser)
c.538G>T (p.Ala180Ser)
c.925G>T (p.Ala309Ser)
c.580G>T (p.Ala194Ser)
c.547G>T (p.Ala183Ser)
18g.3457660C>ACA401723722TGIF1c.479C>A (p.Ala160Glu)
c.539C>A (p.Ala180Glu)
c.926C>A (p.Ala309Glu)
c.581C>A (p.Ala194Glu)
c.548C>A (p.Ala183Glu)
18g.3457660C>GCA401723723TGIF1c.479C>G (p.Ala160Gly)
c.539C>G (p.Ala180Gly)
c.926C>G (p.Ala309Gly)
c.581C>G (p.Ala194Gly)
c.548C>G (p.Ala183Gly)
18g.3457660C>TCA401723724TGIF1c.479C>T (p.Ala160Val)
c.539C>T (p.Ala180Val)
c.926C>T (p.Ala309Val)
c.581C>T (p.Ala194Val)
c.548C>T (p.Ala183Val)
gnomAD v4
18g.3457661A=CA2281035623TGIF1c.480A= (p.Ala160=)
c.540A= (p.Ala180=)
c.927A= (p.Ala309=)
c.582A= (p.Ala194=)
c.549A= (p.Ala183=)
18g.3457661A>CCA8875972TGIF1c.480A>C (p.Ala160=)
c.540A>C (p.Ala180=)
c.927A>C (p.Ala309=)
c.582A>C (p.Ala194=)
c.549A>C (p.Ala183=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457661A>GCA502810339TGIF1c.480A>G (p.Ala160=)
c.540A>G (p.Ala180=)
c.927A>G (p.Ala309=)
c.582A>G (p.Ala194=)
c.549A>G (p.Ala183=)
dbSNP gnomAD v2 gnomAD v4
18g.3457661A>TCA502810341TGIF1c.480A>T (p.Ala160=)
c.540A>T (p.Ala180=)
c.927A>T (p.Ala309=)
c.582A>T (p.Ala194=)
c.549A>T (p.Ala183=)
dbSNP gnomAD v3 gnomAD v4
18g.3457662T>ACA401723725TGIF1c.481T>A (p.Leu161Met)
c.541T>A (p.Leu181Met)
c.928T>A (p.Leu310Met)
c.583T>A (p.Leu195Met)
c.550T>A (p.Leu184Met)
18g.3457662T>CCA502810343TGIF1c.481T>C (p.Leu161=)
c.541T>C (p.Leu181=)
c.928T>C (p.Leu310=)
c.583T>C (p.Leu195=)
c.550T>C (p.Leu184=)
dbSNP
18g.3457662T>GCA401723726TGIF1c.481T>G (p.Leu161Val)
c.541T>G (p.Leu181Val)
c.928T>G (p.Leu310Val)
c.583T>G (p.Leu195Val)
c.550T>G (p.Leu184Val)
gnomAD v4
18g.3457662T=CA2281035624TGIF1c.481T= (p.Leu161=)
c.541T= (p.Leu181=)
c.928T= (p.Leu310=)
c.583T= (p.Leu195=)
c.550T= (p.Leu184=)
18g.3457663T>ACA401723727TGIF1c.482T>A (p.Leu161Ter)
c.542T>A (p.Leu181Ter)
c.929T>A (p.Leu310Ter)
c.584T>A (p.Leu195Ter)
c.551T>A (p.Leu184Ter)
18g.3457663T>CCA401723728TGIF1c.482T>C (p.Leu161Ser)
c.542T>C (p.Leu181Ser)
c.929T>C (p.Leu310Ser)
c.584T>C (p.Leu195Ser)
c.551T>C (p.Leu184Ser)
18g.3457663T>GCA401723729TGIF1c.482T>G (p.Leu161Trp)
c.542T>G (p.Leu181Trp)
c.929T>G (p.Leu310Trp)
c.584T>G (p.Leu195Trp)
c.551T>G (p.Leu184Trp)
18g.3457664G>ACA502810344TGIF1c.483G>A (p.Leu161=)
c.543G>A (p.Leu181=)
c.930G>A (p.Leu310=)
c.585G>A (p.Leu195=)
c.552G>A (p.Leu184=)
18g.3457664G>CCA401723730TGIF1c.483G>C (p.Leu161Phe)
c.543G>C (p.Leu181Phe)
c.930G>C (p.Leu310Phe)
c.585G>C (p.Leu195Phe)
c.552G>C (p.Leu184Phe)
18g.3457664G>TCA401723731TGIF1c.483G>T (p.Leu161Phe)
c.543G>T (p.Leu181Phe)
c.930G>T (p.Leu310Phe)
c.585G>T (p.Leu195Phe)
c.552G>T (p.Leu184Phe)
18g.3457665A=CA2281035625TGIF1c.484A= (p.Lys162=)
c.544A= (p.Lys182=)
c.931A= (p.Lys311=)
c.586A= (p.Lys196=)
c.553A= (p.Lys185=)
18g.3457665A>CCA401723734TGIF1c.484A>C (p.Lys162Gln)
c.544A>C (p.Lys182Gln)
c.931A>C (p.Lys311Gln)
c.586A>C (p.Lys196Gln)
c.553A>C (p.Lys185Gln)
18g.3457665A>GCA401723732TGIF1c.484A>G (p.Lys162Glu)
c.544A>G (p.Lys182Glu)
c.931A>G (p.Lys311Glu)
c.586A>G (p.Lys196Glu)
c.553A>G (p.Lys185Glu)
dbSNP
18g.3457665A>TCA401723733TGIF1c.484A>T (p.Lys162Ter)
c.544A>T (p.Lys182Ter)
c.931A>T (p.Lys311Ter)
c.586A>T (p.Lys196Ter)
c.553A>T (p.Lys185Ter)
18g.3457666A>CCA401723735TGIF1c.485A>C (p.Lys162Thr)
c.545A>C (p.Lys182Thr)
c.932A>C (p.Lys311Thr)
c.587A>C (p.Lys196Thr)
c.554A>C (p.Lys185Thr)
18g.3457666A>GCA401723736TGIF1c.485A>G (p.Lys162Arg)
c.545A>G (p.Lys182Arg)
c.932A>G (p.Lys311Arg)
c.587A>G (p.Lys196Arg)
c.554A>G (p.Lys185Arg)
18g.3457666A>TCA401723737TGIF1c.485A>T (p.Lys162Ile)
c.545A>T (p.Lys182Ile)
c.932A>T (p.Lys311Ile)
c.587A>T (p.Lys196Ile)
c.554A>T (p.Lys185Ile)
18g.3457667A>CCA401723738TGIF1c.486A>C (p.Lys162Asn)
c.546A>C (p.Lys182Asn)
c.933A>C (p.Lys311Asn)
c.588A>C (p.Lys196Asn)
c.555A>C (p.Lys185Asn)
18g.3457667A>GCA502810345TGIF1c.486A>G (p.Lys162=)
c.546A>G (p.Lys182=)
c.933A>G (p.Lys311=)
c.588A>G (p.Lys196=)
c.555A>G (p.Lys185=)
gnomAD v4
18g.3457667A>TCA401723739TGIF1c.486A>T (p.Lys162Asn)
c.546A>T (p.Lys182Asn)
c.933A>T (p.Lys311Asn)
c.588A>T (p.Lys196Asn)
c.555A>T (p.Lys185Asn)
18g.3457668G>ACA401723740TGIF1c.487G>A (p.Asp163Asn)
c.547G>A (p.Asp183Asn)
c.934G>A (p.Asp312Asn)
c.589G>A (p.Asp197Asn)
c.556G>A (p.Asp186Asn)
18g.3457668G>CCA401723741TGIF1c.487G>C (p.Asp163His)
c.547G>C (p.Asp183His)
c.934G>C (p.Asp312His)
c.589G>C (p.Asp197His)
c.556G>C (p.Asp186His)
18g.3457668G>TCA401723742TGIF1c.487G>T (p.Asp163Tyr)
c.547G>T (p.Asp183Tyr)
c.934G>T (p.Asp312Tyr)
c.589G>T (p.Asp197Tyr)
c.556G>T (p.Asp186Tyr)
18g.3457669A=CA2281035626TGIF1c.488A= (p.Asp163=)
c.548A= (p.Asp183=)
c.935A= (p.Asp312=)
c.590A= (p.Asp197=)
c.557A= (p.Asp186=)
18g.3457669A>CCA401723743TGIF1c.488A>C (p.Asp163Ala)
c.548A>C (p.Asp183Ala)
c.935A>C (p.Asp312Ala)
c.590A>C (p.Asp197Ala)
c.557A>C (p.Asp186Ala)
18g.3457669A>GCA401723744TGIF1c.488A>G (p.Asp163Gly)
c.548A>G (p.Asp183Gly)
c.935A>G (p.Asp312Gly)
c.590A>G (p.Asp197Gly)
c.557A>G (p.Asp186Gly)
dbSNP gnomAD v3 gnomAD v4
18g.3457669A>TCA401723745TGIF1c.488A>T (p.Asp163Val)
c.548A>T (p.Asp183Val)
c.935A>T (p.Asp312Val)
c.590A>T (p.Asp197Val)
c.557A>T (p.Asp186Val)
18g.3457670T>ACA401723746TGIF1c.489T>A (p.Asp163Glu)
c.549T>A (p.Asp183Glu)
c.936T>A (p.Asp312Glu)
c.591T>A (p.Asp197Glu)
c.558T>A (p.Asp186Glu)
18g.3457670T>CCA502810346TGIF1c.489T>C (p.Asp163=)
c.549T>C (p.Asp183=)
c.936T>C (p.Asp312=)
c.591T>C (p.Asp197=)
c.558T>C (p.Asp186=)
gnomAD v4
18g.3457670T>GCA401723747TGIF1c.489T>G (p.Asp163Glu)
c.549T>G (p.Asp183Glu)
c.936T>G (p.Asp312Glu)
c.591T>G (p.Asp197Glu)
c.558T>G (p.Asp186Glu)
18g.3457671G>ACA401723748TGIF1c.490G>A (p.Val164Ile)
c.550G>A (p.Val184Ile)
c.937G>A (p.Val313Ile)
c.592G>A (p.Val198Ile)
c.559G>A (p.Val187Ile)
18g.3457671G>CCA401723750TGIF1c.490G>C (p.Val164Leu)
c.550G>C (p.Val184Leu)
c.937G>C (p.Val313Leu)
c.592G>C (p.Val198Leu)
c.559G>C (p.Val187Leu)
18g.3457671G>TCA401723749TGIF1c.490G>T (p.Val164Phe)
c.550G>T (p.Val184Phe)
c.937G>T (p.Val313Phe)
c.592G>T (p.Val198Phe)
c.559G>T (p.Val187Phe)
18g.3457672T>ACA401723751TGIF1c.491T>A (p.Val164Asp)
c.551T>A (p.Val184Asp)
c.938T>A (p.Val313Asp)
c.593T>A (p.Val198Asp)
c.560T>A (p.Val187Asp)
18g.3457672T>CCA401723752TGIF1c.491T>C (p.Val164Ala)
c.551T>C (p.Val184Ala)
c.938T>C (p.Val313Ala)
c.593T>C (p.Val198Ala)
c.560T>C (p.Val187Ala)
18g.3457672T>GCA401723753TGIF1c.491T>G (p.Val164Gly)
c.551T>G (p.Val184Gly)
c.938T>G (p.Val313Gly)
c.593T>G (p.Val198Gly)
c.560T>G (p.Val187Gly)
dbSNP gnomAD v2 gnomAD v4
18g.3457672T=CA2281035627TGIF1c.491T= (p.Val164=)
c.551T= (p.Val184=)
c.938T= (p.Val313=)
c.593T= (p.Val198=)
c.560T= (p.Val187=)
18g.3457673C>ACA502810347TGIF1c.492C>A (p.Val164=)
c.552C>A (p.Val184=)
c.939C>A (p.Val313=)
c.594C>A (p.Val198=)
c.561C>A (p.Val187=)
18g.3457673C>GCA502810348TGIF1c.492C>G (p.Val164=)
c.552C>G (p.Val184=)
c.939C>G (p.Val313=)
c.594C>G (p.Val198=)
c.561C>G (p.Val187=)
18g.3457673C>TCA502810349TGIF1c.492C>T (p.Val164=)
c.552C>T (p.Val184=)
c.939C>T (p.Val313=)
c.594C>T (p.Val198=)
c.561C>T (p.Val187=)
18g.3457674C>ACA401723754TGIF1c.493C>A (p.Pro165Thr)
c.553C>A (p.Pro185Thr)
c.940C>A (p.Pro314Thr)
c.595C>A (p.Pro199Thr)
c.562C>A (p.Pro188Thr)
gnomAD v4
18g.3457674C>GCA401723755TGIF1c.493C>G (p.Pro165Ala)
c.553C>G (p.Pro185Ala)
c.940C>G (p.Pro314Ala)
c.595C>G (p.Pro199Ala)
c.562C>G (p.Pro188Ala)
18g.3457674C>TCA401723756TGIF1c.493C>T (p.Pro165Ser)
c.553C>T (p.Pro185Ser)
c.940C>T (p.Pro314Ser)
c.595C>T (p.Pro199Ser)
c.562C>T (p.Pro188Ser)
gnomAD v4
18g.3457675C>ACA401723757TGIF1c.494C>A (p.Pro165His)
c.554C>A (p.Pro185His)
c.941C>A (p.Pro314His)
c.596C>A (p.Pro199His)
c.563C>A (p.Pro188His)
18g.3457675C=CA2281035628TGIF1c.494C= (p.Pro165=)
c.554C= (p.Pro185=)
c.941C= (p.Pro314=)
c.596C= (p.Pro199=)
c.563C= (p.Pro188=)
18g.3457675C>GCA8875973TGIF1c.494C>G (p.Pro165Arg)
c.554C>G (p.Pro185Arg)
c.941C>G (p.Pro314Arg)
c.596C>G (p.Pro199Arg)
c.563C>G (p.Pro188Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457675C>TCA401723758TGIF1c.494C>T (p.Pro165Leu)
c.554C>T (p.Pro185Leu)
c.941C>T (p.Pro314Leu)
c.596C>T (p.Pro199Leu)
c.563C>T (p.Pro188Leu)
18g.3457676T>ACA502810351TGIF1c.495T>A (p.Pro165=)
c.555T>A (p.Pro185=)
c.942T>A (p.Pro314=)
c.597T>A (p.Pro199=)
c.564T>A (p.Pro188=)
18g.3457676T>CCA502810353TGIF1c.495T>C (p.Pro165=)
c.555T>C (p.Pro185=)
c.942T>C (p.Pro314=)
c.597T>C (p.Pro199=)
c.564T>C (p.Pro188=)
18g.3457676T>GCA502810350TGIF1c.495T>G (p.Pro165=)
c.555T>G (p.Pro185=)
c.942T>G (p.Pro314=)
c.597T>G (p.Pro199=)
c.564T>G (p.Pro188=)
18g.3457677T>ACA401723759TGIF1c.496T>A (p.Phe166Ile)
c.556T>A (p.Phe186Ile)
c.943T>A (p.Phe315Ile)
c.598T>A (p.Phe200Ile)
c.565T>A (p.Phe189Ile)
18g.3457677T>CCA401723760TGIF1c.496T>C (p.Phe166Leu)
c.556T>C (p.Phe186Leu)
c.943T>C (p.Phe315Leu)
c.598T>C (p.Phe200Leu)
c.565T>C (p.Phe189Leu)
18g.3457677T>GCA401723761TGIF1c.496T>G (p.Phe166Val)
c.556T>G (p.Phe186Val)
c.943T>G (p.Phe315Val)
c.598T>G (p.Phe200Val)
c.565T>G (p.Phe189Val)
18g.3457678T>ACA401723764TGIF1c.497T>A (p.Phe166Tyr)
c.557T>A (p.Phe186Tyr)
c.944T>A (p.Phe315Tyr)
c.599T>A (p.Phe200Tyr)
c.566T>A (p.Phe189Tyr)
18g.3457678T>CCA401723763TGIF1c.497T>C (p.Phe166Ser)
c.557T>C (p.Phe186Ser)
c.944T>C (p.Phe315Ser)
c.599T>C (p.Phe200Ser)
c.566T>C (p.Phe189Ser)
dbSNP gnomAD v4
18g.3457678T>GCA401723762TGIF1c.497T>G (p.Phe166Cys)
c.557T>G (p.Phe186Cys)
c.944T>G (p.Phe315Cys)
c.599T>G (p.Phe200Cys)
c.566T>G (p.Phe189Cys)
18g.3457678T=CA2281035629TGIF1c.497T= (p.Phe166=)
c.557T= (p.Phe186=)
c.944T= (p.Phe315=)
c.599T= (p.Phe200=)
c.566T= (p.Phe189=)
18g.3457685_3457686delCA645599954TGIF1c.504_505del (p.Cys169ProfsTer?)
c.564_565del (p.Cys189ProfsTer?)
c.951_952del (p.Cys318ProfsTer?)
c.606_607del (p.Cys203ProfsTer?)
c.573_574del (p.Cys192ProfsTer?)
COSMIC COSMIC
18g.3457683_3457686delCA2640853242TGIF1c.502_505del (p.Leu168AlafsTer15)
c.562_565del (p.Leu188AlafsTer15)
c.949_952del (p.Leu317AlafsTer15)
c.604_607del (p.Leu202AlafsTer15)
c.571_574del (p.Leu191AlafsTer15)
gnomAD v4
18g.3457679C>ACA401723765TGIF1c.498C>A (p.Phe166Leu)
c.558C>A (p.Phe186Leu)
c.945C>A (p.Phe315Leu)
c.600C>A (p.Phe200Leu)
c.567C>A (p.Phe189Leu)
18g.3457679C=CA2281035630TGIF1c.498C= (p.Phe166=)
c.558C= (p.Phe186=)
c.945C= (p.Phe315=)
c.600C= (p.Phe200=)
c.567C= (p.Phe189=)
18g.3457679C>GCA401723766TGIF1c.498C>G (p.Phe166Leu)
c.558C>G (p.Phe186Leu)
c.945C>G (p.Phe315Leu)
c.600C>G (p.Phe200Leu)
c.567C>G (p.Phe189Leu)
18g.3457679C>TCA8875974TGIF1c.498C>T (p.Phe166=)
c.558C>T (p.Phe186=)
c.945C>T (p.Phe315=)
c.600C>T (p.Phe200=)
c.567C>T (p.Phe189=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457680T>ACA401723767TGIF1c.499T>A (p.Ser167Thr)
c.559T>A (p.Ser187Thr)
c.946T>A (p.Ser316Thr)
c.601T>A (p.Ser201Thr)
c.568T>A (p.Ser190Thr)
COSMIC
18g.3457680T>CCA401723768TGIF1c.499T>C (p.Ser167Pro)
c.559T>C (p.Ser187Pro)
c.946T>C (p.Ser316Pro)
c.601T>C (p.Ser201Pro)
c.568T>C (p.Ser190Pro)
18g.3457680T>GCA401723769TGIF1c.499T>G (p.Ser167Ala)
c.559T>G (p.Ser187Ala)
c.946T>G (p.Ser316Ala)
c.601T>G (p.Ser201Ala)
c.568T>G (p.Ser190Ala)
18g.3457681C>ACA401723770TGIF1c.500C>A (p.Ser167Tyr)
c.560C>A (p.Ser187Tyr)
c.947C>A (p.Ser316Tyr)
c.602C>A (p.Ser201Tyr)
c.569C>A (p.Ser190Tyr)
18g.3457681C=CA2281035631TGIF1c.500C= (p.Ser167=)
c.560C= (p.Ser187=)
c.947C= (p.Ser316=)
c.602C= (p.Ser201=)
c.569C= (p.Ser190=)
18g.3457681C>GCA8875975TGIF1c.500C>G (p.Ser167Cys)
c.560C>G (p.Ser187Cys)
c.947C>G (p.Ser316Cys)
c.602C>G (p.Ser201Cys)
c.569C>G (p.Ser190Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457681C>TCA401723771TGIF1c.500C>T (p.Ser167Phe)
c.560C>T (p.Ser187Phe)
c.947C>T (p.Ser316Phe)
c.602C>T (p.Ser201Phe)
c.569C>T (p.Ser190Phe)
gnomAD v4
18g.3457682T>ACA502810357TGIF1c.501T>A (p.Ser167=)
c.561T>A (p.Ser187=)
c.948T>A (p.Ser316=)
c.603T>A (p.Ser201=)
c.570T>A (p.Ser190=)
18g.3457682T>CCA502810359TGIF1c.501T>C (p.Ser167=)
c.561T>C (p.Ser187=)
c.948T>C (p.Ser316=)
c.603T>C (p.Ser201=)
c.570T>C (p.Ser190=)
18g.3457682T>GCA502810361TGIF1c.501T>G (p.Ser167=)
c.561T>G (p.Ser187=)
c.948T>G (p.Ser316=)
c.603T>G (p.Ser201=)
c.570T>G (p.Ser190=)
18g.3457683C>ACA401723772TGIF1c.502C>A (p.Leu168Ile)
c.562C>A (p.Leu188Ile)
c.949C>A (p.Leu317Ile)
c.502C>A
c.604C>A (p.Leu202Ile)
c.571C>A (p.Leu191Ile)
18g.3457683C=CA2281035632TGIF1c.502C= (p.Leu168=)
c.562C= (p.Leu188=)
c.949C= (p.Leu317=)
c.502C=
c.604C= (p.Leu202=)
c.571C= (p.Leu191=)
18g.3457683C>GCA401723773TGIF1c.502C>G (p.Leu168Val)
c.562C>G (p.Leu188Val)
c.949C>G (p.Leu317Val)
c.502C>G
c.604C>G (p.Leu202Val)
c.571C>G (p.Leu191Val)
18g.3457683C>TCA8875976TGIF1c.502C>T (p.Leu168Phe)
c.562C>T (p.Leu188Phe)
c.949C>T (p.Leu317Phe)
c.502C>T
c.604C>T (p.Leu202Phe)
c.571C>T (p.Leu191Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457684T>ACA401723774TGIF1c.503T>A (p.Leu168His)
c.563T>A (p.Leu188His)
c.950T>A (p.Leu317His)
c.503T>A
c.605T>A (p.Leu202His)
c.572T>A (p.Leu191His)
18g.3457684T>CCA401723776TGIF1c.503T>C (p.Leu168Pro)
c.563T>C (p.Leu188Pro)
c.950T>C (p.Leu317Pro)
c.503T>C
c.605T>C (p.Leu202Pro)
c.572T>C (p.Leu191Pro)
18g.3457684T>GCA401723775TGIF1c.503T>G (p.Leu168Arg)
c.563T>G (p.Leu188Arg)
c.950T>G (p.Leu317Arg)
c.503T>G
c.605T>G (p.Leu202Arg)
c.572T>G (p.Leu191Arg)
18g.3457685C>ACA502810363TGIF1c.504C>A (p.Leu168=)
c.564C>A (p.Leu188=)
c.951C>A (p.Leu317=)
c.606C>A (p.Leu202=)
c.573C>A (p.Leu191=)
18g.3457685C=CA2281035633TGIF1c.504C= (p.Leu168=)
c.564C= (p.Leu188=)
c.951C= (p.Leu317=)
c.606C= (p.Leu202=)
c.573C= (p.Leu191=)
18g.3457685C>GCA8875977TGIF1c.504C>G (p.Leu168=)
c.564C>G (p.Leu188=)
c.951C>G (p.Leu317=)
c.606C>G (p.Leu202=)
c.573C>G (p.Leu191=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457685C>TCA8875978TGIF1c.504C>T (p.Leu168=)
c.564C>T (p.Leu188=)
c.951C>T (p.Leu317=)
c.606C>T (p.Leu202=)
c.573C>T (p.Leu191=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457686T>ACA401723777TGIF1c.505T>A (p.Cys169Ser)
c.565T>A (p.Cys189Ser)
c.952T>A (p.Cys318Ser)
c.607T>A (p.Cys203Ser)
c.574T>A (p.Cys192Ser)
18g.3457686T>CCA401723779TGIF1c.505T>C (p.Cys169Arg)
c.565T>C (p.Cys189Arg)
c.952T>C (p.Cys318Arg)
c.607T>C (p.Cys203Arg)
c.574T>C (p.Cys192Arg)
18g.3457686T>GCA401723778TGIF1c.505T>G (p.Cys169Gly)
c.565T>G (p.Cys189Gly)
c.952T>G (p.Cys318Gly)
c.607T>G (p.Cys203Gly)
c.574T>G (p.Cys192Gly)
18g.3457687G>ACA401723780TGIF1c.506G>A (p.Cys169Tyr)
c.566G>A (p.Cys189Tyr)
c.953G>A (p.Cys318Tyr)
c.608G>A (p.Cys203Tyr)
c.575G>A (p.Cys192Tyr)
dbSNP
18g.3457687G>CCA401723781TGIF1c.506G>C (p.Cys169Ser)
c.566G>C (p.Cys189Ser)
c.953G>C (p.Cys318Ser)
c.608G>C (p.Cys203Ser)
c.575G>C (p.Cys192Ser)
18g.3457687G=CA2281035634TGIF1c.506G= (p.Cys169=)
c.566G= (p.Cys189=)
c.953G= (p.Cys318=)
c.608G= (p.Cys203=)
c.575G= (p.Cys192=)
18g.3457687G>TCA401723782TGIF1c.506G>T (p.Cys169Phe)
c.566G>T (p.Cys189Phe)
c.953G>T (p.Cys318Phe)
c.608G>T (p.Cys203Phe)
c.575G>T (p.Cys192Phe)
18g.3457688C>ACA401723783TGIF1c.507C>A (p.Cys169Ter)
c.567C>A (p.Cys189Ter)
c.954C>A (p.Cys318Ter)
c.609C>A (p.Cys203Ter)
c.576C>A (p.Cys192Ter)
18g.3457688C=CA2281035635TGIF1c.507C= (p.Cys169=)
c.567C= (p.Cys189=)
c.954C= (p.Cys318=)
c.609C= (p.Cys203=)
c.576C= (p.Cys192=)
18g.3457688C>GCA8875979TGIF1c.507C>G (p.Cys169Trp)
c.567C>G (p.Cys189Trp)
c.954C>G (p.Cys318Trp)
c.609C>G (p.Cys203Trp)
c.576C>G (p.Cys192Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457688C>TCA502810365TGIF1c.507C>T (p.Cys169=)
c.567C>T (p.Cys189=)
c.954C>T (p.Cys318=)
c.609C>T (p.Cys203=)
c.576C>T (p.Cys192=)
gnomAD v4
18g.3457689C>ACA401723784TGIF1c.508C>A (p.Gln170Lys)
c.568C>A (p.Gln190Lys)
c.955C>A (p.Gln319Lys)
c.610C>A (p.Gln204Lys)
c.577C>A (p.Gln193Lys)
18g.3457689C>GCA401723785TGIF1c.508C>G (p.Gln170Glu)
c.568C>G (p.Gln190Glu)
c.955C>G (p.Gln319Glu)
c.610C>G (p.Gln204Glu)
c.577C>G (p.Gln193Glu)
18g.3457689C>TCA401723786TGIF1c.508C>T (p.Gln170Ter)
c.568C>T (p.Gln190Ter)
c.955C>T (p.Gln319Ter)
c.610C>T (p.Gln204Ter)
c.577C>T (p.Gln193Ter)

Number of alleles fetched