Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.3457572A=CA2281035574TGIF1c.391A= (p.Thr131=)
c.451A= (p.Thr151=)
c.838A= (p.Thr280=)
c.*164A= (n.*164A=)
c.493A= (p.Thr165=)
c.460A= (p.Thr154=)
18g.3457572A>CCA401723553TGIF1c.391A>C (p.Thr131Pro)
c.451A>C (p.Thr151Pro)
c.838A>C (p.Thr280Pro)
c.*164A>C (n.*164A>C)
c.493A>C (p.Thr165Pro)
c.460A>C (p.Thr154Pro)
dbSNP
18g.3457572A>GCA254028TGIF1c.391A>G (p.Thr131Ala)
c.451A>G (p.Thr151Ala)
c.838A>G (p.Thr280Ala)
c.*164A>G (n.*164A>G)
c.493A>G (p.Thr165Ala)
c.460A>G (p.Thr154Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457572A>TCA401723554TGIF1c.391A>T (p.Thr131Ser)
c.451A>T (p.Thr151Ser)
c.838A>T (p.Thr280Ser)
c.*164A>T (n.*164A>T)
c.493A>T (p.Thr165Ser)
c.460A>T (p.Thr154Ser)
18g.3457573C>ACA401723557TGIF1c.392C>A (p.Thr131Asn)
c.452C>A (p.Thr151Asn)
c.839C>A (p.Thr280Asn)
c.*165C>A (n.*165C>A)
c.494C>A (p.Thr165Asn)
c.461C>A (p.Thr154Asn)
18g.3457573C=CA2281035575TGIF1c.392C= (p.Thr131=)
c.452C= (p.Thr151=)
c.839C= (p.Thr280=)
c.*165C= (n.*165C=)
c.494C= (p.Thr165=)
c.461C= (p.Thr154=)
18g.3457573C>GCA401723555TGIF1c.392C>G (p.Thr131Ser)
c.452C>G (p.Thr151Ser)
c.839C>G (p.Thr280Ser)
c.*165C>G (n.*165C>G)
c.494C>G (p.Thr165Ser)
c.461C>G (p.Thr154Ser)
dbSNP gnomAD v4
18g.3457573C>TCA401723556TGIF1c.392C>T (p.Thr131Ile)
c.452C>T (p.Thr151Ile)
c.839C>T (p.Thr280Ile)
c.*165C>T (n.*165C>T)
c.494C>T (p.Thr165Ile)
c.461C>T (p.Thr154Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.3457574C>ACA502810535TGIF1c.393C>A (p.Thr131=)
c.453C>A (p.Thr151=)
c.840C>A (p.Thr280=)
c.*166C>A (n.*166C>A)
c.495C>A (p.Thr165=)
c.462C>A (p.Thr154=)
18g.3457574C>GCA502810536TGIF1c.393C>G (p.Thr131=)
c.453C>G (p.Thr151=)
c.840C>G (p.Thr280=)
c.*166C>G (n.*166C>G)
c.495C>G (p.Thr165=)
c.462C>G (p.Thr154=)
18g.3457574C>TCA502810537TGIF1c.393C>T (p.Thr131=)
c.453C>T (p.Thr151=)
c.840C>T (p.Thr280=)
c.*166C>T (n.*166C>T)
c.495C>T (p.Thr165=)
c.462C>T (p.Thr154=)
18g.3457575C>ACA401723558TGIF1c.394C>A (p.Leu132Ile)
c.454C>A (p.Leu152Ile)
c.841C>A (p.Leu281Ile)
c.*167C>A (n.*167C>A)
c.496C>A (p.Leu166Ile)
c.463C>A (p.Leu155Ile)
18g.3457575C>GCA401723559TGIF1c.394C>G (p.Leu132Val)
c.454C>G (p.Leu152Val)
c.841C>G (p.Leu281Val)
c.*167C>G (n.*167C>G)
c.496C>G (p.Leu166Val)
c.463C>G (p.Leu155Val)
18g.3457575C>TCA502810538TGIF1c.394C>T (p.Leu132=)
c.454C>T (p.Leu152=)
c.841C>T (p.Leu281=)
c.*167C>T (n.*167C>T)
c.496C>T (p.Leu166=)
c.463C>T (p.Leu155=)
18g.3457576T>ACA401723560TGIF1c.395T>A (p.Leu132Gln)
c.455T>A (p.Leu152Gln)
c.842T>A (p.Leu281Gln)
c.*168T>A (n.*168T>A)
c.497T>A (p.Leu166Gln)
c.464T>A (p.Leu155Gln)
18g.3457576T>CCA401723561TGIF1c.395T>C (p.Leu132Pro)
c.455T>C (p.Leu152Pro)
c.842T>C (p.Leu281Pro)
c.*168T>C (n.*168T>C)
c.497T>C (p.Leu166Pro)
c.464T>C (p.Leu155Pro)
18g.3457576T>GCA401723562TGIF1c.395T>G (p.Leu132Arg)
c.455T>G (p.Leu152Arg)
c.842T>G (p.Leu281Arg)
c.*168T>G (n.*168T>G)
c.497T>G (p.Leu166Arg)
c.464T>G (p.Leu155Arg)
COSMIC
18g.3457577A>CCA502810542TGIF1c.396A>C (p.Leu132=)
c.456A>C (p.Leu152=)
c.843A>C (p.Leu281=)
c.*169A>C (n.*169A>C)
c.498A>C (p.Leu166=)
c.465A>C (p.Leu155=)
18g.3457577A>GCA502810543TGIF1c.396A>G (p.Leu132=)
c.456A>G (p.Leu152=)
c.843A>G (p.Leu281=)
c.*169A>G (n.*169A>G)
c.498A>G (p.Leu166=)
c.465A>G (p.Leu155=)
18g.3457577A>TCA502810544TGIF1c.396A>T (p.Leu132=)
c.456A>T (p.Leu152=)
c.843A>T (p.Leu281=)
c.*169A>T (n.*169A>T)
c.498A>T (p.Leu166=)
c.465A>T (p.Leu155=)
18g.3457578G>ACA401723563TGIF1c.397G>A (p.Gly133Arg)
c.457G>A (p.Gly153Arg)
c.844G>A (p.Gly282Arg)
c.*170G>A (n.*170G>A)
c.499G>A (p.Gly167Arg)
c.466G>A (p.Gly156Arg)
dbSNP gnomAD v2 gnomAD v4
18g.3457578G>CCA401723565TGIF1c.397G>C (p.Gly133Arg)
c.457G>C (p.Gly153Arg)
c.844G>C (p.Gly282Arg)
c.*170G>C (n.*170G>C)
c.499G>C (p.Gly167Arg)
c.466G>C (p.Gly156Arg)
gnomAD v4
18g.3457578G=CA2281035576TGIF1c.397G= (p.Gly133=)
c.457G= (p.Gly153=)
c.844G= (p.Gly282=)
c.*170G= (n.*170G=)
c.499G= (p.Gly167=)
c.466G= (p.Gly156=)
18g.3457578G>TCA401723564TGIF1c.397G>T (p.Gly133Trp)
c.457G>T (p.Gly153Trp)
c.844G>T (p.Gly282Trp)
c.*170G>T (n.*170G>T)
c.499G>T (p.Gly167Trp)
c.466G>T (p.Gly156Trp)
18g.3457579G>ACA401723566TGIF1c.398G>A (p.Gly133Glu)
c.458G>A (p.Gly153Glu)
c.845G>A (p.Gly282Glu)
c.*171G>A (n.*171G>A)
c.500G>A (p.Gly167Glu)
c.467G>A (p.Gly156Glu)
dbSNP gnomAD v2 gnomAD v4
18g.3457579G>CCA401723567TGIF1c.398G>C (p.Gly133Ala)
c.458G>C (p.Gly153Ala)
c.845G>C (p.Gly282Ala)
c.*171G>C (n.*171G>C)
c.500G>C (p.Gly167Ala)
c.467G>C (p.Gly156Ala)
dbSNP
18g.3457579G=CA2281035577TGIF1c.398G= (p.Gly133=)
c.458G= (p.Gly153=)
c.845G= (p.Gly282=)
c.*171G= (n.*171G=)
c.500G= (p.Gly167=)
c.467G= (p.Gly156=)
18g.3457579G>TCA401723568TGIF1c.398G>T (p.Gly133Val)
c.458G>T (p.Gly153Val)
c.845G>T (p.Gly282Val)
c.*171G>T (n.*171G>T)
c.500G>T (p.Gly167Val)
c.467G>T (p.Gly156Val)
18g.3457580G>ACA502810546TGIF1c.399G>A (p.Gly133=)
c.459G>A (p.Gly153=)
c.846G>A (p.Gly282=)
c.*172G>A (n.*172G>A)
c.501G>A (p.Gly167=)
c.468G>A (p.Gly156=)
18g.3457580G>CCA502810548TGIF1c.399G>C (p.Gly133=)
c.459G>C (p.Gly153=)
c.846G>C (p.Gly282=)
c.*172G>C (n.*172G>C)
c.501G>C (p.Gly167=)
c.468G>C (p.Gly156=)
18g.3457580G>TCA502810549TGIF1c.399G>T (p.Gly133=)
c.459G>T (p.Gly153=)
c.846G>T (p.Gly282=)
c.*172G>T (n.*172G>T)
c.501G>T (p.Gly167=)
c.468G>T (p.Gly156=)
18g.3457581A=CA2281035578TGIF1c.400A= (p.Arg134=)
c.460A= (p.Arg154=)
c.847A= (p.Arg283=)
c.*173A= (n.*173A=)
c.502A= (p.Arg168=)
c.469A= (p.Arg157=)
18g.3457581A>CCA502810550TGIF1c.400A>C (p.Arg134=)
c.460A>C (p.Arg154=)
c.847A>C (p.Arg283=)
c.*173A>C (n.*173A>C)
c.502A>C (p.Arg168=)
c.469A>C (p.Arg157=)
18g.3457581A>GCA401723569TGIF1c.400A>G (p.Arg134Gly)
c.460A>G (p.Arg154Gly)
c.847A>G (p.Arg283Gly)
c.*173A>G (n.*173A>G)
c.502A>G (p.Arg168Gly)
c.469A>G (p.Arg157Gly)
ClinVar dbSNP gnomAD v4
18g.3457581A>TCA401723570TGIF1c.400A>T (p.Arg134Trp)
c.460A>T (p.Arg154Trp)
c.847A>T (p.Arg283Trp)
c.*173A>T (n.*173A>T)
c.502A>T (p.Arg168Trp)
c.469A>T (p.Arg157Trp)
18g.3457581dupCA645599950TGIF1c.400dup (p.Arg134LysfsTer6)
c.460dup (p.Arg154LysfsTer6)
c.847dup (p.Arg283LysfsTer6)
c.400dup (p.Arg134LysfsTer?)
c.*173dup (n.*173dup)
c.502dup (p.Arg168LysfsTer6)
c.469dup (p.Arg157LysfsTer6)
COSMIC COSMIC
18g.3457582G>ACA401723571TGIF1c.401G>A (p.Arg134Lys)
c.461G>A (p.Arg154Lys)
c.848G>A (p.Arg283Lys)
c.*174G>A (n.*174G>A)
c.503G>A (p.Arg168Lys)
c.470G>A (p.Arg157Lys)
18g.3457582G>CCA401723572TGIF1c.401G>C (p.Arg134Thr)
c.461G>C (p.Arg154Thr)
c.848G>C (p.Arg283Thr)
c.*174G>C (n.*174G>C)
c.503G>C (p.Arg168Thr)
c.470G>C (p.Arg157Thr)
18g.3457582G>TCA401723573TGIF1c.401G>T (p.Arg134Met)
c.461G>T (p.Arg154Met)
c.848G>T (p.Arg283Met)
c.*174G>T (n.*174G>T)
c.503G>T (p.Arg168Met)
c.470G>T (p.Arg157Met)
18g.3457583G>ACA502810553TGIF1c.402G>A (p.Arg134=)
c.462G>A (p.Arg154=)
c.849G>A (p.Arg283=)
c.*175G>A (n.*175G>A)
c.504G>A (p.Arg168=)
c.471G>A (p.Arg157=)
COSMIC
18g.3457583G>CCA401723574TGIF1c.402G>C (p.Arg134Ser)
c.462G>C (p.Arg154Ser)
c.849G>C (p.Arg283Ser)
c.*175G>C (n.*175G>C)
c.504G>C (p.Arg168Ser)
c.471G>C (p.Arg157Ser)
18g.3457583G>TCA401723575TGIF1c.402G>T (p.Arg134Ser)
c.462G>T (p.Arg154Ser)
c.849G>T (p.Arg283Ser)
c.*175G>T (n.*175G>T)
c.504G>T (p.Arg168Ser)
c.471G>T (p.Arg157Ser)
18g.3457584C>ACA401723578TGIF1c.403C>A (p.Pro135Thr)
c.463C>A (p.Pro155Thr)
c.850C>A (p.Pro284Thr)
c.*176C>A (n.*176C>A)
c.505C>A (p.Pro169Thr)
c.472C>A (p.Pro158Thr)
18g.3457584C=CA2281035579TGIF1c.403C= (p.Pro135=)
c.463C= (p.Pro155=)
c.850C= (p.Pro284=)
c.*176C= (n.*176C=)
c.505C= (p.Pro169=)
c.472C= (p.Pro158=)
18g.3457584C>GCA401723577TGIF1c.403C>G (p.Pro135Ala)
c.463C>G (p.Pro155Ala)
c.850C>G (p.Pro284Ala)
c.*176C>G (n.*176C>G)
c.505C>G (p.Pro169Ala)
c.472C>G (p.Pro158Ala)
18g.3457584C>TCA401723576TGIF1c.403C>T (p.Pro135Ser)
c.463C>T (p.Pro155Ser)
c.850C>T (p.Pro284Ser)
c.*176C>T (n.*176C>T)
c.505C>T (p.Pro169Ser)
c.472C>T (p.Pro158Ser)
ClinVar dbSNP gnomAD v4
18g.3457585C>ACA401723579TGIF1c.404C>A (p.Pro135Gln)
c.464C>A (p.Pro155Gln)
c.851C>A (p.Pro284Gln)
c.*177C>A (n.*177C>A)
c.506C>A (p.Pro169Gln)
c.473C>A (p.Pro158Gln)
18g.3457585C>GCA401723580TGIF1c.404C>G (p.Pro135Arg)
c.464C>G (p.Pro155Arg)
c.851C>G (p.Pro284Arg)
c.*177C>G (n.*177C>G)
c.506C>G (p.Pro169Arg)
c.473C>G (p.Pro158Arg)
18g.3457585C>TCA401723581TGIF1c.404C>T (p.Pro135Leu)
c.464C>T (p.Pro155Leu)
c.851C>T (p.Pro284Leu)
c.*177C>T (n.*177C>T)
c.506C>T (p.Pro169Leu)
c.473C>T (p.Pro158Leu)
18g.3457586A=CA2281035580TGIF1c.405A= (p.Pro135=)
c.465A= (p.Pro155=)
c.852A= (p.Pro284=)
c.*178A= (n.*178A=)
c.507A= (p.Pro169=)
c.474A= (p.Pro158=)

Number of alleles fetched