Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.3457756C>ACA401723925TGIF1c.575C>A (p.Ser192Tyr)
c.635C>A (p.Ser212Tyr)
c.1022C>A (p.Ser341Tyr)
c.677C>A (p.Ser226Tyr)
c.644C>A (p.Ser215Tyr)
18g.3457756C=CA2281035665TGIF1c.575C= (p.Ser192=)
c.635C= (p.Ser212=)
c.1022C= (p.Ser341=)
c.677C= (p.Ser226=)
c.644C= (p.Ser215=)
18g.3457756C>GCA401723924TGIF1c.575C>G (p.Ser192Cys)
c.635C>G (p.Ser212Cys)
c.1022C>G (p.Ser341Cys)
c.677C>G (p.Ser226Cys)
c.644C>G (p.Ser215Cys)
dbSNP gnomAD v2 gnomAD v4
18g.3457756C>TCA401723923TGIF1c.575C>T (p.Ser192Phe)
c.635C>T (p.Ser212Phe)
c.1022C>T (p.Ser341Phe)
c.677C>T (p.Ser226Phe)
c.644C>T (p.Ser215Phe)
18g.3457757T>ACA502810449TGIF1c.576T>A (p.Ser192=)
c.636T>A (p.Ser212=)
c.1023T>A (p.Ser341=)
c.678T>A (p.Ser226=)
c.645T>A (p.Ser215=)
18g.3457757T>CCA502810450TGIF1c.576T>C (p.Ser192=)
c.636T>C (p.Ser212=)
c.1023T>C (p.Ser341=)
c.678T>C (p.Ser226=)
c.645T>C (p.Ser215=)
18g.3457757T>GCA502810451TGIF1c.576T>G (p.Ser192=)
c.636T>G (p.Ser212=)
c.1023T>G (p.Ser341=)
c.678T>G (p.Ser226=)
c.645T>G (p.Ser215=)
18g.3457758C>ACA401723926TGIF1c.577C>A (p.Leu193Ile)
c.637C>A (p.Leu213Ile)
c.1024C>A (p.Leu342Ile)
c.679C>A (p.Leu227Ile)
c.646C>A (p.Leu216Ile)
18g.3457758C>GCA401723927TGIF1c.577C>G (p.Leu193Val)
c.637C>G (p.Leu213Val)
c.1024C>G (p.Leu342Val)
c.679C>G (p.Leu227Val)
c.646C>G (p.Leu216Val)
gnomAD v4
18g.3457758C>TCA401723928TGIF1c.577C>T (p.Leu193Phe)
c.637C>T (p.Leu213Phe)
c.1024C>T (p.Leu342Phe)
c.679C>T (p.Leu227Phe)
c.646C>T (p.Leu216Phe)
18g.3457759T>ACA401723929TGIF1c.578T>A (p.Leu193His)
c.638T>A (p.Leu213His)
c.1025T>A (p.Leu342His)
c.680T>A (p.Leu227His)
c.647T>A (p.Leu216His)
18g.3457759T>CCA401723930TGIF1c.578T>C (p.Leu193Pro)
c.638T>C (p.Leu213Pro)
c.1025T>C (p.Leu342Pro)
c.680T>C (p.Leu227Pro)
c.647T>C (p.Leu216Pro)
18g.3457759T>GCA401723931TGIF1c.578T>G (p.Leu193Arg)
c.638T>G (p.Leu213Arg)
c.1025T>G (p.Leu342Arg)
c.680T>G (p.Leu227Arg)
c.647T>G (p.Leu216Arg)
18g.3457760C>ACA502810454TGIF1c.579C>A (p.Leu193=)
c.639C>A (p.Leu213=)
c.1026C>A (p.Leu342=)
c.681C>A (p.Leu227=)
c.648C>A (p.Leu216=)
18g.3457760C=CA2281035666TGIF1c.579C= (p.Leu193=)
c.639C= (p.Leu213=)
c.1026C= (p.Leu342=)
c.681C= (p.Leu227=)
c.648C= (p.Leu216=)
18g.3457760C>GCA502810455TGIF1c.579C>G (p.Leu193=)
c.639C>G (p.Leu213=)
c.1026C>G (p.Leu342=)
c.681C>G (p.Leu227=)
c.648C>G (p.Leu216=)
18g.3457760C>TCA502810456TGIF1c.579C>T (p.Leu193=)
c.639C>T (p.Leu213=)
c.1026C>T (p.Leu342=)
c.681C>T (p.Leu227=)
c.648C>T (p.Leu216=)
dbSNP gnomAD v2
18g.3457761A=CA2281035667TGIF1c.580A= (p.Met194=)
c.640A= (p.Met214=)
c.1027A= (p.Met343=)
c.682A= (p.Met228=)
c.649A= (p.Met217=)
18g.3457761A>CCA401723932TGIF1c.580A>C (p.Met194Leu)
c.640A>C (p.Met214Leu)
c.1027A>C (p.Met343Leu)
c.682A>C (p.Met228Leu)
c.649A>C (p.Met217Leu)
gnomAD v4
18g.3457761A>GCA401723934TGIF1c.580A>G (p.Met194Val)
c.640A>G (p.Met214Val)
c.1027A>G (p.Met343Val)
c.682A>G (p.Met228Val)
c.649A>G (p.Met217Val)
gnomAD v4
18g.3457761A>TCA401723933TGIF1c.580A>T (p.Met194Leu)
c.640A>T (p.Met214Leu)
c.1027A>T (p.Met343Leu)
c.682A>T (p.Met228Leu)
c.649A>T (p.Met217Leu)
dbSNP
18g.3457762T>ACA401723935TGIF1c.581T>A (p.Met194Lys)
c.641T>A (p.Met214Lys)
c.1028T>A (p.Met343Lys)
c.683T>A (p.Met228Lys)
c.650T>A (p.Met217Lys)
18g.3457762T>CCA295567376TGIF1c.581T>C (p.Met194Thr)
c.641T>C (p.Met214Thr)
c.1028T>C (p.Met343Thr)
c.683T>C (p.Met228Thr)
c.650T>C (p.Met217Thr)
dbSNP
18g.3457762T>GCA8876002TGIF1c.581T>G (p.Met194Arg)
c.641T>G (p.Met214Arg)
c.1028T>G (p.Met343Arg)
c.683T>G (p.Met228Arg)
c.650T>G (p.Met217Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457762T=CA2281035668TGIF1c.581T= (p.Met194=)
c.641T= (p.Met214=)
c.1028T= (p.Met343=)
c.683T= (p.Met228=)
c.650T= (p.Met217=)
18g.3457763G>ACA401723936TGIF1c.582G>A (p.Met194Ile)
c.642G>A (p.Met214Ile)
c.1029G>A (p.Met343Ile)
c.684G>A (p.Met228Ile)
c.651G>A (p.Met217Ile)
18g.3457763G>CCA401723937TGIF1c.582G>C (p.Met194Ile)
c.642G>C (p.Met214Ile)
c.1029G>C (p.Met343Ile)
c.684G>C (p.Met228Ile)
c.651G>C (p.Met217Ile)
18g.3457763G>TCA401723938TGIF1c.582G>T (p.Met194Ile)
c.642G>T (p.Met214Ile)
c.1029G>T (p.Met343Ile)
c.684G>T (p.Met228Ile)
c.651G>T (p.Met217Ile)
18g.3457764T>ACA401723939TGIF1c.583T>A (p.Tyr195Asn)
c.643T>A (p.Tyr215Asn)
c.1030T>A (p.Tyr344Asn)
c.685T>A (p.Tyr229Asn)
c.652T>A (p.Tyr218Asn)
18g.3457764T>CCA401723940TGIF1c.583T>C (p.Tyr195His)
c.643T>C (p.Tyr215His)
c.1030T>C (p.Tyr344His)
c.685T>C (p.Tyr229His)
c.652T>C (p.Tyr218His)
gnomAD v4
18g.3457764T>GCA401723941TGIF1c.583T>G (p.Tyr195Asp)
c.643T>G (p.Tyr215Asp)
c.1030T>G (p.Tyr344Asp)
c.685T>G (p.Tyr229Asp)
c.652T>G (p.Tyr218Asp)
18g.3457765A>CCA401723942TGIF1c.584A>C (p.Tyr195Ser)
c.644A>C (p.Tyr215Ser)
c.1031A>C (p.Tyr344Ser)
c.686A>C (p.Tyr229Ser)
c.653A>C (p.Tyr218Ser)
18g.3457765A>GCA401723943TGIF1c.584A>G (p.Tyr195Cys)
c.644A>G (p.Tyr215Cys)
c.1031A>G (p.Tyr344Cys)
c.686A>G (p.Tyr229Cys)
c.653A>G (p.Tyr218Cys)
18g.3457765A>TCA401723944TGIF1c.584A>T (p.Tyr195Phe)
c.644A>T (p.Tyr215Phe)
c.1031A>T (p.Tyr344Phe)
c.686A>T (p.Tyr229Phe)
c.653A>T (p.Tyr218Phe)
18g.3457766C>ACA401723946TGIF1c.585C>A (p.Tyr195Ter)
c.645C>A (p.Tyr215Ter)
c.1032C>A (p.Tyr344Ter)
c.687C>A (p.Tyr229Ter)
c.654C>A (p.Tyr218Ter)
18g.3457766C=CA2281035669TGIF1c.585C= (p.Tyr195=)
c.645C= (p.Tyr215=)
c.1032C= (p.Tyr344=)
c.687C= (p.Tyr229=)
c.654C= (p.Tyr218=)
18g.3457766C>GCA401723945TGIF1c.585C>G (p.Tyr195Ter)
c.645C>G (p.Tyr215Ter)
c.1032C>G (p.Tyr344Ter)
c.687C>G (p.Tyr229Ter)
c.654C>G (p.Tyr218Ter)
18g.3457766C>TCA502810460TGIF1c.585C>T (p.Tyr195=)
c.645C>T (p.Tyr215=)
c.1032C>T (p.Tyr344=)
c.687C>T (p.Tyr229=)
c.654C>T (p.Tyr218=)
dbSNP gnomAD v2 gnomAD v4
18g.3457767C>ACA401723947TGIF1c.586C>A (p.Pro196Thr)
c.646C>A (p.Pro216Thr)
c.1033C>A (p.Pro345Thr)
c.688C>A (p.Pro230Thr)
c.655C>A (p.Pro219Thr)
18g.3457767C=CA2281035670TGIF1c.586C= (p.Pro196=)
c.646C= (p.Pro216=)
c.1033C= (p.Pro345=)
c.688C= (p.Pro230=)
c.655C= (p.Pro219=)
18g.3457767C>GCA401723948TGIF1c.586C>G (p.Pro196Ala)
c.646C>G (p.Pro216Ala)
c.1033C>G (p.Pro345Ala)
c.688C>G (p.Pro230Ala)
c.655C>G (p.Pro219Ala)
dbSNP gnomAD v2 gnomAD v4
18g.3457767C>TCA401723949TGIF1c.586C>T (p.Pro196Ser)
c.646C>T (p.Pro216Ser)
c.1033C>T (p.Pro345Ser)
c.688C>T (p.Pro230Ser)
c.655C>T (p.Pro219Ser)
dbSNP
18g.3457768C>ACA401723950TGIF1c.587C>A (p.Pro196Gln)
c.647C>A (p.Pro216Gln)
c.1034C>A (p.Pro345Gln)
c.689C>A (p.Pro230Gln)
c.656C>A (p.Pro219Gln)
18g.3457768C>GCA401723951TGIF1c.587C>G (p.Pro196Arg)
c.647C>G (p.Pro216Arg)
c.1034C>G (p.Pro345Arg)
c.689C>G (p.Pro230Arg)
c.656C>G (p.Pro219Arg)
18g.3457768C>TCA401723952TGIF1c.587C>T (p.Pro196Leu)
c.647C>T (p.Pro216Leu)
c.1034C>T (p.Pro345Leu)
c.689C>T (p.Pro230Leu)
c.656C>T (p.Pro219Leu)
gnomAD v4
18g.3457769A=CA2281035671TGIF1c.588A= (p.Pro196=)
c.648A= (p.Pro216=)
c.1035A= (p.Pro345=)
c.690A= (p.Pro230=)
c.657A= (p.Pro219=)
18g.3457769A>CCA502810463TGIF1c.588A>C (p.Pro196=)
c.648A>C (p.Pro216=)
c.1035A>C (p.Pro345=)
c.690A>C (p.Pro230=)
c.657A>C (p.Pro219=)
18g.3457769A>GCA502810464TGIF1c.588A>G (p.Pro196=)
c.648A>G (p.Pro216=)
c.1035A>G (p.Pro345=)
c.690A>G (p.Pro230=)
c.657A>G (p.Pro219=)
dbSNP gnomAD v2 gnomAD v4
18g.3457769A>TCA502810465TGIF1c.588A>T (p.Pro196=)
c.648A>T (p.Pro216=)
c.1035A>T (p.Pro345=)
c.690A>T (p.Pro230=)
c.657A>T (p.Pro219=)
18g.3457770G>ACA401723955TGIF1c.589G>A (p.Glu197Lys)
c.649G>A (p.Glu217Lys)
c.1036G>A (p.Glu346Lys)
c.691G>A (p.Glu231Lys)
c.658G>A (p.Glu220Lys)
18g.3457770G>CCA401723954TGIF1c.589G>C (p.Glu197Gln)
c.649G>C (p.Glu217Gln)
c.1036G>C (p.Glu346Gln)
c.691G>C (p.Glu231Gln)
c.658G>C (p.Glu220Gln)
18g.3457770G>TCA401723953TGIF1c.589G>T (p.Glu197Ter)
c.649G>T (p.Glu217Ter)
c.1036G>T (p.Glu346Ter)
c.691G>T (p.Glu231Ter)
c.658G>T (p.Glu220Ter)
18g.3457771A>CCA401723956TGIF1c.590A>C (p.Glu197Ala)
c.650A>C (p.Glu217Ala)
c.1037A>C (p.Glu346Ala)
c.692A>C (p.Glu231Ala)
c.659A>C (p.Glu220Ala)
18g.3457771A>GCA401723957TGIF1c.590A>G (p.Glu197Gly)
c.650A>G (p.Glu217Gly)
c.1037A>G (p.Glu346Gly)
c.692A>G (p.Glu231Gly)
c.659A>G (p.Glu220Gly)
18g.3457771A>TCA401723958TGIF1c.590A>T (p.Glu197Val)
c.650A>T (p.Glu217Val)
c.1037A>T (p.Glu346Val)
c.692A>T (p.Glu231Val)
c.659A>T (p.Glu220Val)
18g.3457772G>ACA8876003TGIF1c.591G>A (p.Glu197=)
c.651G>A (p.Glu217=)
c.1038G>A (p.Glu346=)
c.693G>A (p.Glu231=)
c.660G>A (p.Glu220=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457772G>CCA401723959TGIF1c.591G>C (p.Glu197Asp)
c.651G>C (p.Glu217Asp)
c.1038G>C (p.Glu346Asp)
c.693G>C (p.Glu231Asp)
c.660G>C (p.Glu220Asp)
18g.3457772G=CA2281035672TGIF1c.591G= (p.Glu197=)
c.651G= (p.Glu217=)
c.1038G= (p.Glu346=)
c.693G= (p.Glu231=)
c.660G= (p.Glu220=)
18g.3457772G>TCA401723960TGIF1c.591G>T (p.Glu197Asp)
c.651G>T (p.Glu217Asp)
c.1038G>T (p.Glu346Asp)
c.693G>T (p.Glu231Asp)
c.660G>T (p.Glu220Asp)
18g.3457773G>ACA401723961TGIF1c.592G>A (p.Asp198Asn)
c.652G>A (p.Asp218Asn)
c.1039G>A (p.Asp347Asn)
c.694G>A (p.Asp232Asn)
c.661G>A (p.Asp221Asn)
dbSNP gnomAD v3 gnomAD v4
18g.3457773G>CCA401723963TGIF1c.592G>C (p.Asp198His)
c.652G>C (p.Asp218His)
c.1039G>C (p.Asp347His)
c.694G>C (p.Asp232His)
c.661G>C (p.Asp221His)
18g.3457773G=CA2281035673TGIF1c.592G= (p.Asp198=)
c.652G= (p.Asp218=)
c.1039G= (p.Asp347=)
c.694G= (p.Asp232=)
c.661G= (p.Asp221=)
18g.3457773G>TCA401723962TGIF1c.592G>T (p.Asp198Tyr)
c.652G>T (p.Asp218Tyr)
c.1039G>T (p.Asp347Tyr)
c.694G>T (p.Asp232Tyr)
c.661G>T (p.Asp221Tyr)
18g.3457774A=CA2281035674TGIF1c.593A= (p.Asp198=)
c.653A= (p.Asp218=)
c.1040A= (p.Asp347=)
c.695A= (p.Asp232=)
c.662A= (p.Asp221=)
18g.3457774A>CCA401723964TGIF1c.593A>C (p.Asp198Ala)
c.653A>C (p.Asp218Ala)
c.1040A>C (p.Asp347Ala)
c.695A>C (p.Asp232Ala)
c.662A>C (p.Asp221Ala)
18g.3457774A>GCA401723965TGIF1c.593A>G (p.Asp198Gly)
c.653A>G (p.Asp218Gly)
c.1040A>G (p.Asp347Gly)
c.695A>G (p.Asp232Gly)
c.662A>G (p.Asp221Gly)
dbSNP gnomAD v2 gnomAD v4
18g.3457774A>TCA401723966TGIF1c.593A>T (p.Asp198Val)
c.653A>T (p.Asp218Val)
c.1040A>T (p.Asp347Val)
c.695A>T (p.Asp232Val)
c.662A>T (p.Asp221Val)
18g.3457775C>ACA401723967TGIF1c.594C>A (p.Asp198Glu)
c.654C>A (p.Asp218Glu)
c.1041C>A (p.Asp347Glu)
c.696C>A (p.Asp232Glu)
c.663C>A (p.Asp221Glu)
18g.3457775C>GCA401723968TGIF1c.594C>G (p.Asp198Glu)
c.654C>G (p.Asp218Glu)
c.1041C>G (p.Asp347Glu)
c.696C>G (p.Asp232Glu)
c.663C>G (p.Asp221Glu)
18g.3457775C>TCA502810468TGIF1c.594C>T (p.Asp198=)
c.654C>T (p.Asp218=)
c.1041C>T (p.Asp347=)
c.696C>T (p.Asp232=)
c.663C>T (p.Asp221=)
gnomAD v4
18g.3457776A>CCA401723969TGIF1c.595A>C (p.Thr199Pro)
c.655A>C (p.Thr219Pro)
c.1042A>C (p.Thr348Pro)
c.697A>C (p.Thr233Pro)
c.664A>C (p.Thr222Pro)
18g.3457776A>GCA401723970TGIF1c.595A>G (p.Thr199Ala)
c.655A>G (p.Thr219Ala)
c.1042A>G (p.Thr348Ala)
c.697A>G (p.Thr233Ala)
c.664A>G (p.Thr222Ala)
18g.3457776A>TCA401723971TGIF1c.595A>T (p.Thr199Ser)
c.655A>T (p.Thr219Ser)
c.1042A>T (p.Thr348Ser)
c.697A>T (p.Thr233Ser)
c.664A>T (p.Thr222Ser)
18g.3457777C>ACA401723972TGIF1c.596C>A (p.Thr199Asn)
c.656C>A (p.Thr219Asn)
c.1043C>A (p.Thr348Asn)
c.698C>A (p.Thr233Asn)
c.665C>A (p.Thr222Asn)
18g.3457777C>GCA401723973TGIF1c.596C>G (p.Thr199Ser)
c.656C>G (p.Thr219Ser)
c.1043C>G (p.Thr348Ser)
c.698C>G (p.Thr233Ser)
c.665C>G (p.Thr222Ser)
18g.3457777C>TCA401723974TGIF1c.596C>T (p.Thr199Ile)
c.656C>T (p.Thr219Ile)
c.1043C>T (p.Thr348Ile)
c.698C>T (p.Thr233Ile)
c.665C>T (p.Thr222Ile)
gnomAD v4
18g.3457778T>ACA502810470TGIF1c.597T>A (p.Thr199=)
c.657T>A (p.Thr219=)
c.1044T>A (p.Thr348=)
c.699T>A (p.Thr233=)
c.666T>A (p.Thr222=)
18g.3457778T>CCA502810471TGIF1c.597T>C (p.Thr199=)
c.657T>C (p.Thr219=)
c.1044T>C (p.Thr348=)
c.699T>C (p.Thr233=)
c.666T>C (p.Thr222=)
dbSNP
18g.3457778T>GCA8876004TGIF1c.597T>G (p.Thr199=)
c.657T>G (p.Thr219=)
c.1044T>G (p.Thr348=)
c.699T>G (p.Thr233=)
c.666T>G (p.Thr222=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457778T=CA2281035675TGIF1c.597T= (p.Thr199=)
c.657T= (p.Thr219=)
c.1044T= (p.Thr348=)
c.699T= (p.Thr233=)
c.666T= (p.Thr222=)
18g.3457779T>ACA401723977TGIF1c.598T>A (p.Cys200Ser)
c.658T>A (p.Cys220Ser)
c.1045T>A (p.Cys349Ser)
c.700T>A (p.Cys234Ser)
c.667T>A (p.Cys223Ser)
18g.3457779T>CCA401723975TGIF1c.598T>C (p.Cys200Arg)
c.658T>C (p.Cys220Arg)
c.1045T>C (p.Cys349Arg)
c.700T>C (p.Cys234Arg)
c.667T>C (p.Cys223Arg)
18g.3457779T>GCA401723976TGIF1c.598T>G (p.Cys200Gly)
c.658T>G (p.Cys220Gly)
c.1045T>G (p.Cys349Gly)
c.700T>G (p.Cys234Gly)
c.667T>G (p.Cys223Gly)
18g.3457780G>ACA401723978TGIF1c.599G>A (p.Cys200Tyr)
c.659G>A (p.Cys220Tyr)
c.1046G>A (p.Cys349Tyr)
c.701G>A (p.Cys234Tyr)
c.668G>A (p.Cys223Tyr)
18g.3457780G>CCA401723979TGIF1c.599G>C (p.Cys200Ser)
c.659G>C (p.Cys220Ser)
c.1046G>C (p.Cys349Ser)
c.701G>C (p.Cys234Ser)
c.668G>C (p.Cys223Ser)
gnomAD v4
18g.3457780G>TCA401723980TGIF1c.599G>T (p.Cys200Phe)
c.659G>T (p.Cys220Phe)
c.1046G>T (p.Cys349Phe)
c.701G>T (p.Cys234Phe)
c.668G>T (p.Cys223Phe)
18g.3457781T>ACA401723981TGIF1c.600T>A (p.Cys200Ter)
c.660T>A (p.Cys220Ter)
c.1047T>A (p.Cys349Ter)
c.702T>A (p.Cys234Ter)
c.669T>A (p.Cys223Ter)
18g.3457781T>CCA502810472TGIF1c.600T>C (p.Cys200=)
c.660T>C (p.Cys220=)
c.1047T>C (p.Cys349=)
c.702T>C (p.Cys234=)
c.669T>C (p.Cys223=)
18g.3457781T>GCA401723982TGIF1c.600T>G (p.Cys200Trp)
c.660T>G (p.Cys220Trp)
c.1047T>G (p.Cys349Trp)
c.702T>G (p.Cys234Trp)
c.669T>G (p.Cys223Trp)
18g.3457782A>CCA401723983TGIF1c.601A>C (p.Lys201Gln)
c.661A>C (p.Lys221Gln)
c.1048A>C (p.Lys350Gln)
c.703A>C (p.Lys235Gln)
c.670A>C (p.Lys224Gln)
18g.3457782A>GCA401723984TGIF1c.601A>G (p.Lys201Glu)
c.661A>G (p.Lys221Glu)
c.1048A>G (p.Lys350Glu)
c.703A>G (p.Lys235Glu)
c.670A>G (p.Lys224Glu)
18g.3457782A>TCA401723985TGIF1c.601A>T (p.Lys201Ter)
c.661A>T (p.Lys221Ter)
c.1048A>T (p.Lys350Ter)
c.703A>T (p.Lys235Ter)
c.670A>T (p.Lys224Ter)
18g.3457783A>CCA401723986TGIF1c.602A>C (p.Lys201Thr)
c.662A>C (p.Lys221Thr)
c.1049A>C (p.Lys350Thr)
c.704A>C (p.Lys235Thr)
c.671A>C (p.Lys224Thr)
18g.3457783A>GCA401723987TGIF1c.602A>G (p.Lys201Arg)
c.662A>G (p.Lys221Arg)
c.1049A>G (p.Lys350Arg)
c.704A>G (p.Lys235Arg)
c.671A>G (p.Lys224Arg)
18g.3457783A>TCA401723988TGIF1c.602A>T (p.Lys201Ile)
c.662A>T (p.Lys221Ile)
c.1049A>T (p.Lys350Ile)
c.704A>T (p.Lys235Ile)
c.671A>T (p.Lys224Ile)
18g.3457784A>CCA401723989TGIF1c.603A>C (p.Lys201Asn)
c.663A>C (p.Lys221Asn)
c.1050A>C (p.Lys350Asn)
c.705A>C (p.Lys235Asn)
c.672A>C (p.Lys224Asn)
18g.3457784A>GCA502810476TGIF1c.603A>G (p.Lys201=)
c.663A>G (p.Lys221=)
c.1050A>G (p.Lys350=)
c.705A>G (p.Lys235=)
c.672A>G (p.Lys224=)
18g.3457784A>TCA401723990TGIF1c.603A>T (p.Lys201Asn)
c.663A>T (p.Lys221Asn)
c.1050A>T (p.Lys350Asn)
c.705A>T (p.Lys235Asn)
c.672A>T (p.Lys224Asn)
18g.3457785T>ACA401723993TGIF1c.604T>A (p.Ser202Thr)
c.664T>A (p.Ser222Thr)
c.1051T>A (p.Ser351Thr)
c.706T>A (p.Ser236Thr)
c.673T>A (p.Ser225Thr)
18g.3457785T>CCA401723991TGIF1c.604T>C (p.Ser202Pro)
c.664T>C (p.Ser222Pro)
c.1051T>C (p.Ser351Pro)
c.706T>C (p.Ser236Pro)
c.673T>C (p.Ser225Pro)
18g.3457785T>GCA401723992TGIF1c.604T>G (p.Ser202Ala)
c.664T>G (p.Ser222Ala)
c.1051T>G (p.Ser351Ala)
c.706T>G (p.Ser236Ala)
c.673T>G (p.Ser225Ala)
18g.3457786_3457787dupCA645599957TGIF1c.605_606dup (p.Gly203LeufsTer?)
c.665_666dup (p.Gly223LeufsTer?)
c.1052_1053dup (p.Gly352LeufsTer?)
c.707_708dup (p.Gly237LeufsTer?)
c.674_675dup (p.Gly226LeufsTer?)
COSMIC COSMIC
18g.3457786C>ACA401723994TGIF1c.605C>A (p.Ser202Tyr)
c.665C>A (p.Ser222Tyr)
c.1052C>A (p.Ser351Tyr)
c.707C>A (p.Ser236Tyr)
c.674C>A (p.Ser225Tyr)
18g.3457786C>GCA401723995TGIF1c.605C>G (p.Ser202Cys)
c.665C>G (p.Ser222Cys)
c.1052C>G (p.Ser351Cys)
c.707C>G (p.Ser236Cys)
c.674C>G (p.Ser225Cys)
18g.3457786C>TCA401723996TGIF1c.605C>T (p.Ser202Phe)
c.665C>T (p.Ser222Phe)
c.1052C>T (p.Ser351Phe)
c.707C>T (p.Ser236Phe)
c.674C>T (p.Ser225Phe)
18g.3457787T>ACA502810481TGIF1c.606T>A (p.Ser202=)
c.666T>A (p.Ser222=)
c.1053T>A (p.Ser351=)
c.708T>A (p.Ser236=)
c.675T>A (p.Ser225=)
18g.3457787T>CCA502810482TGIF1c.606T>C (p.Ser202=)
c.666T>C (p.Ser222=)
c.1053T>C (p.Ser351=)
c.708T>C (p.Ser236=)
c.675T>C (p.Ser225=)
18g.3457787T>GCA502810483TGIF1c.606T>G (p.Ser202=)
c.666T>G (p.Ser222=)
c.1053T>G (p.Ser351=)
c.708T>G (p.Ser236=)
c.675T>G (p.Ser225=)
18g.3457788G>ACA401723997TGIF1c.607G>A (p.Gly203Arg)
c.667G>A (p.Gly223Arg)
c.1054G>A (p.Gly352Arg)
c.709G>A (p.Gly237Arg)
c.676G>A (p.Gly226Arg)
18g.3457788G>CCA401723998TGIF1c.607G>C (p.Gly203Arg)
c.667G>C (p.Gly223Arg)
c.1054G>C (p.Gly352Arg)
c.709G>C (p.Gly237Arg)
c.676G>C (p.Gly226Arg)
18g.3457788G>TCA401723999TGIF1c.607G>T (p.Gly203Ter)
c.667G>T (p.Gly223Ter)
c.1054G>T (p.Gly352Ter)
c.709G>T (p.Gly237Ter)
c.676G>T (p.Gly226Ter)
18g.3457789G>ACA401724000TGIF1c.608G>A (p.Gly203Glu)
c.668G>A (p.Gly223Glu)
c.1055G>A (p.Gly352Glu)
c.710G>A (p.Gly237Glu)
c.677G>A (p.Gly226Glu)
dbSNP gnomAD v3 gnomAD v4
18g.3457789G>CCA401724001TGIF1c.608G>C (p.Gly203Ala)
c.668G>C (p.Gly223Ala)
c.1055G>C (p.Gly352Ala)
c.710G>C (p.Gly237Ala)
c.677G>C (p.Gly226Ala)
18g.3457789G=CA2281035676TGIF1c.608G= (p.Gly203=)
c.668G= (p.Gly223=)
c.1055G= (p.Gly352=)
c.710G= (p.Gly237=)
c.677G= (p.Gly226=)
18g.3457789G>TCA401724002TGIF1c.608G>T (p.Gly203Val)
c.668G>T (p.Gly223Val)
c.1055G>T (p.Gly352Val)
c.710G>T (p.Gly237Val)
c.677G>T (p.Gly226Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.3457790A>CCA502810486TGIF1c.609A>C (p.Gly203=)
c.669A>C (p.Gly223=)
c.1056A>C (p.Gly352=)
c.711A>C (p.Gly237=)
c.678A>C (p.Gly226=)
18g.3457790A>GCA502810487TGIF1c.609A>G (p.Gly203=)
c.669A>G (p.Gly223=)
c.1056A>G (p.Gly352=)
c.711A>G (p.Gly237=)
c.678A>G (p.Gly226=)
18g.3457790A>TCA502810488TGIF1c.609A>T (p.Gly203=)
c.669A>T (p.Gly223=)
c.1056A>T (p.Gly352=)
c.711A>T (p.Gly237=)
c.678A>T (p.Gly226=)
18g.3457791C>ACA401724003TGIF1c.610C>A (p.Pro204Thr)
c.670C>A (p.Pro224Thr)
c.1057C>A (p.Pro353Thr)
c.712C>A (p.Pro238Thr)
c.679C>A (p.Pro227Thr)
18g.3457791C>GCA401724004TGIF1c.610C>G (p.Pro204Ala)
c.670C>G (p.Pro224Ala)
c.1057C>G (p.Pro353Ala)
c.712C>G (p.Pro238Ala)
c.679C>G (p.Pro227Ala)
18g.3457791C>TCA401724005TGIF1c.610C>T (p.Pro204Ser)
c.670C>T (p.Pro224Ser)
c.1057C>T (p.Pro353Ser)
c.712C>T (p.Pro238Ser)
c.679C>T (p.Pro227Ser)
18g.3457792C>ACA401724006TGIF1c.611C>A (p.Pro204Gln)
c.671C>A (p.Pro224Gln)
c.1058C>A (p.Pro353Gln)
c.713C>A (p.Pro238Gln)
c.680C>A (p.Pro227Gln)
18g.3457792C>GCA401724008TGIF1c.611C>G (p.Pro204Arg)
c.671C>G (p.Pro224Arg)
c.1058C>G (p.Pro353Arg)
c.713C>G (p.Pro238Arg)
c.680C>G (p.Pro227Arg)
18g.3457792C>TCA401724007TGIF1c.611C>T (p.Pro204Leu)
c.671C>T (p.Pro224Leu)
c.1058C>T (p.Pro353Leu)
c.713C>T (p.Pro238Leu)
c.680C>T (p.Pro227Leu)
18g.3457793A=CA2281035677TGIF1c.612A= (p.Pro204=)
c.672A= (p.Pro224=)
c.1059A= (p.Pro353=)
c.714A= (p.Pro238=)
c.681A= (p.Pro227=)
18g.3457793A>CCA502810489TGIF1c.612A>C (p.Pro204=)
c.672A>C (p.Pro224=)
c.1059A>C (p.Pro353=)
c.714A>C (p.Pro238=)
c.681A>C (p.Pro227=)
dbSNP COSMIC COSMIC
18g.3457793A>GCA502810490TGIF1c.612A>G (p.Pro204=)
c.672A>G (p.Pro224=)
c.1059A>G (p.Pro353=)
c.714A>G (p.Pro238=)
c.681A>G (p.Pro227=)
18g.3457793A>TCA502810491TGIF1c.612A>T (p.Pro204=)
c.672A>T (p.Pro224=)
c.1059A>T (p.Pro353=)
c.714A>T (p.Pro238=)
c.681A>T (p.Pro227=)
18g.3457794A>CCA401724009TGIF1c.613A>C (p.Ser205Arg)
c.673A>C (p.Ser225Arg)
c.1060A>C (p.Ser354Arg)
c.715A>C (p.Ser239Arg)
c.682A>C (p.Ser228Arg)
18g.3457794A>GCA401724011TGIF1c.613A>G (p.Ser205Gly)
c.673A>G (p.Ser225Gly)
c.1060A>G (p.Ser354Gly)
c.715A>G (p.Ser239Gly)
c.682A>G (p.Ser228Gly)
18g.3457794A>TCA401724010TGIF1c.613A>T (p.Ser205Cys)
c.673A>T (p.Ser225Cys)
c.1060A>T (p.Ser354Cys)
c.715A>T (p.Ser239Cys)
c.682A>T (p.Ser228Cys)
18g.3457795G>ACA8876005TGIF1c.614G>A (p.Ser205Asn)
c.674G>A (p.Ser225Asn)
c.1061G>A (p.Ser354Asn)
c.716G>A (p.Ser239Asn)
c.683G>A (p.Ser228Asn)
dbSNP ExAC
18g.3457795G>CCA401724012TGIF1c.614G>C (p.Ser205Thr)
c.674G>C (p.Ser225Thr)
c.1061G>C (p.Ser354Thr)
c.716G>C (p.Ser239Thr)
c.683G>C (p.Ser228Thr)
18g.3457795G=CA2281035678TGIF1c.614G= (p.Ser205=)
c.674G= (p.Ser225=)
c.1061G= (p.Ser354=)
c.716G= (p.Ser239=)
c.683G= (p.Ser228=)
18g.3457795G>TCA401724013TGIF1c.614G>T (p.Ser205Ile)
c.674G>T (p.Ser225Ile)
c.1061G>T (p.Ser354Ile)
c.716G>T (p.Ser239Ile)
c.683G>T (p.Ser228Ile)
gnomAD v4
18g.3457796T>ACA401724014TGIF1c.615T>A (p.Ser205Arg)
c.675T>A (p.Ser225Arg)
c.1062T>A (p.Ser354Arg)
c.717T>A (p.Ser239Arg)
c.684T>A (p.Ser228Arg)
18g.3457796T>CCA502810498TGIF1c.615T>C (p.Ser205=)
c.675T>C (p.Ser225=)
c.1062T>C (p.Ser354=)
c.717T>C (p.Ser239=)
c.684T>C (p.Ser228=)
18g.3457796T>GCA8876006TGIF1c.615T>G (p.Ser205Arg)
c.675T>G (p.Ser225Arg)
c.1062T>G (p.Ser354Arg)
c.717T>G (p.Ser239Arg)
c.684T>G (p.Ser228Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457796T=CA2281035679TGIF1c.615T= (p.Ser205=)
c.675T= (p.Ser225=)
c.1062T= (p.Ser354=)
c.717T= (p.Ser239=)
c.684T= (p.Ser228=)
18g.3457797A=CA2281035680TGIF1c.616A= (p.Thr206=)
c.676A= (p.Thr226=)
c.1063A= (p.Thr355=)
c.718A= (p.Thr240=)
c.685A= (p.Thr229=)
18g.3457797A>CCA401724015TGIF1c.616A>C (p.Thr206Pro)
c.676A>C (p.Thr226Pro)
c.1063A>C (p.Thr355Pro)
c.718A>C (p.Thr240Pro)
c.685A>C (p.Thr229Pro)
dbSNP
18g.3457797A>GCA401724016TGIF1c.616A>G (p.Thr206Ala)
c.676A>G (p.Thr226Ala)
c.1063A>G (p.Thr355Ala)
c.718A>G (p.Thr240Ala)
c.685A>G (p.Thr229Ala)
COSMIC COSMIC
18g.3457797A>TCA401724017TGIF1c.616A>T (p.Thr206Ser)
c.676A>T (p.Thr226Ser)
c.1063A>T (p.Thr355Ser)
c.718A>T (p.Thr240Ser)
c.685A>T (p.Thr229Ser)
18g.3457798C>ACA401724018TGIF1c.617C>A (p.Thr206Lys)
c.677C>A (p.Thr226Lys)
c.1064C>A (p.Thr355Lys)
c.719C>A (p.Thr240Lys)
c.686C>A (p.Thr229Lys)
18g.3457798C=CA2281035681TGIF1c.617C= (p.Thr206=)
c.677C= (p.Thr226=)
c.1064C= (p.Thr355=)
c.719C= (p.Thr240=)
c.686C= (p.Thr229=)
18g.3457798C>GCA401724019TGIF1c.617C>G (p.Thr206Arg)
c.677C>G (p.Thr226Arg)
c.1064C>G (p.Thr355Arg)
c.719C>G (p.Thr240Arg)
c.686C>G (p.Thr229Arg)
18g.3457798C>TCA295567394TGIF1c.617C>T (p.Thr206Met)
c.677C>T (p.Thr226Met)
c.1064C>T (p.Thr355Met)
c.719C>T (p.Thr240Met)
c.686C>T (p.Thr229Met)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.3457799G>ACA8876007TGIF1c.618G>A (p.Thr206=)
c.678G>A (p.Thr226=)
c.1065G>A (p.Thr355=)
c.720G>A (p.Thr240=)
c.687G>A (p.Thr229=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457799G>CCA295567398TGIF1c.618G>C (p.Thr206=)
c.678G>C (p.Thr226=)
c.1065G>C (p.Thr355=)
c.720G>C (p.Thr240=)
c.687G>C (p.Thr229=)
dbSNP gnomAD v4
18g.3457799G=CA2281035682TGIF1c.618G= (p.Thr206=)
c.678G= (p.Thr226=)
c.1065G= (p.Thr355=)
c.720G= (p.Thr240=)
c.687G= (p.Thr229=)
18g.3457799G>TCA502810500TGIF1c.618G>T (p.Thr206=)
c.678G>T (p.Thr226=)
c.1065G>T (p.Thr355=)
c.720G>T (p.Thr240=)
c.687G>T (p.Thr229=)
dbSNP gnomAD v4
18g.3457800A>CCA401724022TGIF1c.619A>C (p.Asn207His)
c.679A>C (p.Asn227His)
c.1066A>C (p.Asn356His)
c.721A>C (p.Asn241His)
c.688A>C (p.Asn230His)
18g.3457800A>GCA401724020TGIF1c.619A>G (p.Asn207Asp)
c.679A>G (p.Asn227Asp)
c.1066A>G (p.Asn356Asp)
c.721A>G (p.Asn241Asp)
c.688A>G (p.Asn230Asp)
18g.3457800A>TCA401724021TGIF1c.619A>T (p.Asn207Tyr)
c.679A>T (p.Asn227Tyr)
c.1066A>T (p.Asn356Tyr)
c.721A>T (p.Asn241Tyr)
c.688A>T (p.Asn230Tyr)
18g.3457801A=CA2281035683TGIF1c.620A= (p.Asn207=)
c.680A= (p.Asn227=)
c.1067A= (p.Asn356=)
c.722A= (p.Asn241=)
c.689A= (p.Asn230=)
18g.3457801A>CCA401724023TGIF1c.620A>C (p.Asn207Thr)
c.680A>C (p.Asn227Thr)
c.1067A>C (p.Asn356Thr)
c.722A>C (p.Asn241Thr)
c.689A>C (p.Asn230Thr)
18g.3457801A>GCA401724024TGIF1c.620A>G (p.Asn207Ser)
c.680A>G (p.Asn227Ser)
c.1067A>G (p.Asn356Ser)
c.722A>G (p.Asn241Ser)
c.689A>G (p.Asn230Ser)
dbSNP gnomAD v4
18g.3457801A>TCA401724025TGIF1c.620A>T (p.Asn207Ile)
c.680A>T (p.Asn227Ile)
c.1067A>T (p.Asn356Ile)
c.722A>T (p.Asn241Ile)
c.689A>T (p.Asn230Ile)
18g.3457802T>ACA401724026TGIF1c.621T>A (p.Asn207Lys)
c.681T>A (p.Asn227Lys)
c.1068T>A (p.Asn356Lys)
c.723T>A (p.Asn241Lys)
c.690T>A (p.Asn230Lys)
18g.3457802T>CCA502810501TGIF1c.621T>C (p.Asn207=)
c.681T>C (p.Asn227=)
c.1068T>C (p.Asn356=)
c.723T>C (p.Asn241=)
c.690T>C (p.Asn230=)
dbSNP
18g.3457802T>GCA401724027TGIF1c.621T>G (p.Asn207Lys)
c.681T>G (p.Asn227Lys)
c.1068T>G (p.Asn356Lys)
c.723T>G (p.Asn241Lys)
c.690T>G (p.Asn230Lys)
18g.3457802T=CA2281035684TGIF1c.621T= (p.Asn207=)
c.681T= (p.Asn227=)
c.1068T= (p.Asn356=)
c.723T= (p.Asn241=)
c.690T= (p.Asn230=)
18g.3457803A=CA2281035685TGIF1c.622A= (p.Thr208=)
c.682A= (p.Thr228=)
c.1069A= (p.Thr357=)
c.724A= (p.Thr242=)
c.691A= (p.Thr231=)
18g.3457803A>CCA401724028TGIF1c.622A>C (p.Thr208Pro)
c.682A>C (p.Thr228Pro)
c.1069A>C (p.Thr357Pro)
c.724A>C (p.Thr242Pro)
c.691A>C (p.Thr231Pro)
dbSNP
18g.3457803A>GCA401724029TGIF1c.622A>G (p.Thr208Ala)
c.682A>G (p.Thr228Ala)
c.1069A>G (p.Thr357Ala)
c.724A>G (p.Thr242Ala)
c.691A>G (p.Thr231Ala)
18g.3457803A>TCA401724030TGIF1c.622A>T (p.Thr208Ser)
c.682A>T (p.Thr228Ser)
c.1069A>T (p.Thr357Ser)
c.724A>T (p.Thr242Ser)
c.691A>T (p.Thr231Ser)
18g.3457806_3457807delCA645599958TGIF1c.625_626del (p.Gln209GlufsTer?)
c.685_686del (p.Gln229GlufsTer?)
c.1072_1073del (p.Gln358GlufsTer?)
c.727_728del (p.Gln243GlufsTer?)
c.694_695del (p.Gln232GlufsTer?)
gnomAD v4 COSMIC
18g.3457804C>ACA401724031TGIF1c.623C>A (p.Thr208Lys)
c.683C>A (p.Thr228Lys)
c.1070C>A (p.Thr357Lys)
c.725C>A (p.Thr242Lys)
c.692C>A (p.Thr231Lys)
18g.3457804C=CA2281035686TGIF1c.623C= (p.Thr208=)
c.683C= (p.Thr228=)
c.1070C= (p.Thr357=)
c.725C= (p.Thr242=)
c.692C= (p.Thr231=)
18g.3457804C>GCA401724032TGIF1c.623C>G (p.Thr208Arg)
c.683C>G (p.Thr228Arg)
c.1070C>G (p.Thr357Arg)
c.725C>G (p.Thr242Arg)
c.692C>G (p.Thr231Arg)
18g.3457804C>TCA8876008TGIF1c.623C>T (p.Thr208Ile)
c.683C>T (p.Thr228Ile)
c.1070C>T (p.Thr357Ile)
c.725C>T (p.Thr242Ile)
c.692C>T (p.Thr231Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457805A=CA2281035687TGIF1c.624A= (p.Thr208=)
c.684A= (p.Thr228=)
c.1071A= (p.Thr357=)
c.726A= (p.Thr242=)
c.693A= (p.Thr231=)
18g.3457805A>CCA502810505TGIF1c.624A>C (p.Thr208=)
c.684A>C (p.Thr228=)
c.1071A>C (p.Thr357=)
c.726A>C (p.Thr242=)
c.693A>C (p.Thr231=)
18g.3457805A>GCA502810506TGIF1c.624A>G (p.Thr208=)
c.684A>G (p.Thr228=)
c.1071A>G (p.Thr357=)
c.726A>G (p.Thr242=)
c.693A>G (p.Thr231=)
18g.3457805A>TCA502810507TGIF1c.624A>T (p.Thr208=)
c.684A>T (p.Thr228=)
c.1071A>T (p.Thr357=)
c.726A>T (p.Thr242=)
c.693A>T (p.Thr231=)
dbSNP
18g.3457806C>ACA401724033TGIF1c.625C>A (p.Gln209Lys)
c.685C>A (p.Gln229Lys)
c.1072C>A (p.Gln358Lys)
c.727C>A (p.Gln243Lys)
c.694C>A (p.Gln232Lys)
18g.3457806C=CA2281035688TGIF1c.625C= (p.Gln209=)
c.685C= (p.Gln229=)
c.1072C= (p.Gln358=)
c.727C= (p.Gln243=)
c.694C= (p.Gln232=)
18g.3457806C>GCA8876009TGIF1c.625C>G (p.Gln209Glu)
c.685C>G (p.Gln229Glu)
c.1072C>G (p.Gln358Glu)
c.727C>G (p.Gln243Glu)
c.694C>G (p.Gln232Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457806C>TCA401724034TGIF1c.625C>T (p.Gln209Ter)
c.685C>T (p.Gln229Ter)
c.1072C>T (p.Gln358Ter)
c.727C>T (p.Gln243Ter)
c.694C>T (p.Gln232Ter)
18g.3457807A>CCA401724035TGIF1c.626A>C (p.Gln209Pro)
c.686A>C (p.Gln229Pro)
c.1073A>C (p.Gln358Pro)
c.728A>C (p.Gln243Pro)
c.695A>C (p.Gln232Pro)
18g.3457807A>GCA401724036TGIF1c.626A>G (p.Gln209Arg)
c.686A>G (p.Gln229Arg)
c.1073A>G (p.Gln358Arg)
c.728A>G (p.Gln243Arg)
c.695A>G (p.Gln232Arg)
18g.3457807A>TCA401724037TGIF1c.626A>T (p.Gln209Leu)
c.686A>T (p.Gln229Leu)
c.1073A>T (p.Gln358Leu)
c.728A>T (p.Gln243Leu)
c.695A>T (p.Gln232Leu)
18g.3457808G>ACA502810508TGIF1c.627G>A (p.Gln209=)
c.687G>A (p.Gln229=)
c.1074G>A (p.Gln358=)
c.729G>A (p.Gln243=)
c.696G>A (p.Gln232=)
18g.3457808G>CCA401724038TGIF1c.627G>C (p.Gln209His)
c.687G>C (p.Gln229His)
c.1074G>C (p.Gln358His)
c.729G>C (p.Gln243His)
c.696G>C (p.Gln232His)
18g.3457808G>TCA401724039TGIF1c.627G>T (p.Gln209His)
c.687G>T (p.Gln229His)
c.1074G>T (p.Gln358His)
c.729G>T (p.Gln243His)
c.696G>T (p.Gln232His)
18g.3457809A>CCA401724040TGIF1c.628A>C (p.Ser210Arg)
c.688A>C (p.Ser230Arg)
c.1075A>C (p.Ser359Arg)
c.730A>C (p.Ser244Arg)
c.697A>C (p.Ser233Arg)
18g.3457809A>GCA401724041TGIF1c.628A>G (p.Ser210Gly)
c.688A>G (p.Ser230Gly)
c.1075A>G (p.Ser359Gly)
c.730A>G (p.Ser244Gly)
c.697A>G (p.Ser233Gly)
18g.3457809A>TCA401724042TGIF1c.628A>T (p.Ser210Cys)
c.688A>T (p.Ser230Cys)
c.1075A>T (p.Ser359Cys)
c.730A>T (p.Ser244Cys)
c.697A>T (p.Ser233Cys)
18g.3457810G>ACA401724043TGIF1c.629G>A (p.Ser210Asn)
c.689G>A (p.Ser230Asn)
c.1076G>A (p.Ser359Asn)
c.731G>A (p.Ser244Asn)
c.698G>A (p.Ser233Asn)
dbSNP gnomAD v2 gnomAD v4
18g.3457810G>CCA401724044TGIF1c.629G>C (p.Ser210Thr)
c.689G>C (p.Ser230Thr)
c.1076G>C (p.Ser359Thr)
c.731G>C (p.Ser244Thr)
c.698G>C (p.Ser233Thr)
18g.3457810G=CA2281035689TGIF1c.629G= (p.Ser210=)
c.689G= (p.Ser230=)
c.1076G= (p.Ser359=)
c.731G= (p.Ser244=)
c.698G= (p.Ser233=)
18g.3457810G>TCA401724045TGIF1c.629G>T (p.Ser210Ile)
c.689G>T (p.Ser230Ile)
c.1076G>T (p.Ser359Ile)
c.731G>T (p.Ser244Ile)
c.698G>T (p.Ser233Ile)
18g.3457810dupCA645599959TGIF1c.629dup (p.Ser210ArgfsTer?)
c.689dup (p.Ser230ArgfsTer?)
c.1076dup (p.Ser359ArgfsTer?)
c.731dup (p.Ser244ArgfsTer?)
c.698dup (p.Ser233ArgfsTer?)
COSMIC COSMIC
18g.3457811T>ACA401724047TGIF1c.630T>A (p.Ser210Arg)
c.690T>A (p.Ser230Arg)
c.1077T>A (p.Ser359Arg)
c.732T>A (p.Ser244Arg)
c.699T>A (p.Ser233Arg)
18g.3457811T>CCA502810512TGIF1c.630T>C (p.Ser210=)
c.690T>C (p.Ser230=)
c.1077T>C (p.Ser359=)
c.732T>C (p.Ser244=)
c.699T>C (p.Ser233=)
18g.3457811T>GCA401724046TGIF1c.630T>G (p.Ser210Arg)
c.690T>G (p.Ser230Arg)
c.1077T>G (p.Ser359Arg)
c.732T>G (p.Ser244Arg)
c.699T>G (p.Ser233Arg)
18g.3457812G>ACA8876010TGIF1c.631G>A (p.Gly211Ser)
c.691G>A (p.Gly231Ser)
c.1078G>A (p.Gly360Ser)
c.733G>A (p.Gly245Ser)
c.700G>A (p.Gly234Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457812G>CCA401724048TGIF1c.631G>C (p.Gly211Arg)
c.691G>C (p.Gly231Arg)
c.1078G>C (p.Gly360Arg)
c.733G>C (p.Gly245Arg)
c.700G>C (p.Gly234Arg)
18g.3457812G=CA2281035690TGIF1c.631G= (p.Gly211=)
c.691G= (p.Gly231=)
c.1078G= (p.Gly360=)
c.733G= (p.Gly245=)
c.700G= (p.Gly234=)
18g.3457812G>TCA401724049TGIF1c.631G>T (p.Gly211Cys)
c.691G>T (p.Gly231Cys)
c.1078G>T (p.Gly360Cys)
c.733G>T (p.Gly245Cys)
c.700G>T (p.Gly234Cys)
18g.3457813G>ACA401724050TGIF1c.632G>A (p.Gly211Asp)
c.692G>A (p.Gly231Asp)
c.1079G>A (p.Gly360Asp)
c.734G>A (p.Gly245Asp)
c.701G>A (p.Gly234Asp)
dbSNP
18g.3457813G>CCA401724051TGIF1c.632G>C (p.Gly211Ala)
c.692G>C (p.Gly231Ala)
c.1079G>C (p.Gly360Ala)
c.734G>C (p.Gly245Ala)
c.701G>C (p.Gly234Ala)
18g.3457813G=CA2281035691TGIF1c.632G= (p.Gly211=)
c.692G= (p.Gly231=)
c.1079G= (p.Gly360=)
c.734G= (p.Gly245=)
c.701G= (p.Gly234=)
18g.3457813G>TCA401724052TGIF1c.632G>T (p.Gly211Val)
c.692G>T (p.Gly231Val)
c.1079G>T (p.Gly360Val)
c.734G>T (p.Gly245Val)
c.701G>T (p.Gly234Val)
18g.3457814T>ACA502810516TGIF1c.633T>A (p.Gly211=)
c.693T>A (p.Gly231=)
c.1080T>A (p.Gly360=)
c.735T>A (p.Gly245=)
c.702T>A (p.Gly234=)
18g.3457814T>CCA502810517TGIF1c.633T>C (p.Gly211=)
c.693T>C (p.Gly231=)
c.1080T>C (p.Gly360=)
c.735T>C (p.Gly245=)
c.702T>C (p.Gly234=)
dbSNP gnomAD v3 gnomAD v4
18g.3457814T>GCA502810518TGIF1c.633T>G (p.Gly211=)
c.693T>G (p.Gly231=)
c.1080T>G (p.Gly360=)
c.735T>G (p.Gly245=)
c.702T>G (p.Gly234=)
18g.3457814T=CA2281035692TGIF1c.633T= (p.Gly211=)
c.693T= (p.Gly231=)
c.1080T= (p.Gly360=)
c.735T= (p.Gly245=)
c.702T= (p.Gly234=)
18g.3457815C>ACA401724053TGIF1c.634C>A (p.Leu212Ile)
c.694C>A (p.Leu232Ile)
c.1081C>A (p.Leu361Ile)
c.736C>A (p.Leu246Ile)
c.703C>A (p.Leu235Ile)
gnomAD v4
18g.3457815C>GCA401724054TGIF1c.634C>G (p.Leu212Val)
c.694C>G (p.Leu232Val)
c.1081C>G (p.Leu361Val)
c.736C>G (p.Leu246Val)
c.703C>G (p.Leu235Val)
18g.3457815C>TCA401724055TGIF1c.634C>T (p.Leu212Phe)
c.694C>T (p.Leu232Phe)
c.1081C>T (p.Leu361Phe)
c.736C>T (p.Leu246Phe)
c.703C>T (p.Leu235Phe)
18g.3457816T>ACA401724056TGIF1c.635T>A (p.Leu212His)
c.695T>A (p.Leu232His)
c.1082T>A (p.Leu361His)
c.737T>A (p.Leu246His)
c.704T>A (p.Leu235His)
18g.3457816T>CCA401724057TGIF1c.635T>C (p.Leu212Pro)
c.695T>C (p.Leu232Pro)
c.1082T>C (p.Leu361Pro)
c.737T>C (p.Leu246Pro)
c.704T>C (p.Leu235Pro)
gnomAD v4
18g.3457816T>GCA401724058TGIF1c.635T>G (p.Leu212Arg)
c.695T>G (p.Leu232Arg)
c.1082T>G (p.Leu361Arg)
c.737T>G (p.Leu246Arg)
c.704T>G (p.Leu235Arg)
18g.3457817T>ACA502810522TGIF1c.636T>A (p.Leu212=)
c.696T>A (p.Leu232=)
c.1083T>A (p.Leu361=)
c.738T>A (p.Leu246=)
c.705T>A (p.Leu235=)
18g.3457817T>CCA502810523TGIF1c.636T>C (p.Leu212=)
c.696T>C (p.Leu232=)
c.1083T>C (p.Leu361=)
c.738T>C (p.Leu246=)
c.705T>C (p.Leu235=)
18g.3457817T>GCA502810524TGIF1c.636T>G (p.Leu212=)
c.696T>G (p.Leu232=)
c.1083T>G (p.Leu361=)
c.738T>G (p.Leu246=)
c.705T>G (p.Leu235=)
18g.3457818T>ACA401724060TGIF1c.637T>A (p.Phe213Ile)
c.697T>A (p.Phe233Ile)
c.1084T>A (p.Phe362Ile)
c.739T>A (p.Phe247Ile)
c.706T>A (p.Phe236Ile)
18g.3457818T>CCA401724061TGIF1c.637T>C (p.Phe213Leu)
c.697T>C (p.Phe233Leu)
c.1084T>C (p.Phe362Leu)
c.739T>C (p.Phe247Leu)
c.706T>C (p.Phe236Leu)
18g.3457818T>GCA401724059TGIF1c.637T>G (p.Phe213Val)
c.697T>G (p.Phe233Val)
c.1084T>G (p.Phe362Val)
c.739T>G (p.Phe247Val)
c.706T>G (p.Phe236Val)
18g.3457819T>ACA401724064TGIF1c.638T>A (p.Phe213Tyr)
c.698T>A (p.Phe233Tyr)
c.1085T>A (p.Phe362Tyr)
c.740T>A (p.Phe247Tyr)
c.707T>A (p.Phe236Tyr)
18g.3457819T>CCA401724062TGIF1c.638T>C (p.Phe213Ser)
c.698T>C (p.Phe233Ser)
c.1085T>C (p.Phe362Ser)
c.740T>C (p.Phe247Ser)
c.707T>C (p.Phe236Ser)
18g.3457819T>GCA401724063TGIF1c.638T>G (p.Phe213Cys)
c.698T>G (p.Phe233Cys)
c.1085T>G (p.Phe362Cys)
c.740T>G (p.Phe247Cys)
c.707T>G (p.Phe236Cys)
18g.3457820C>ACA401724065TGIF1c.639C>A (p.Phe213Leu)
c.699C>A (p.Phe233Leu)
c.1086C>A (p.Phe362Leu)
c.741C>A (p.Phe247Leu)
c.708C>A (p.Phe236Leu)
18g.3457820C=CA2281035693TGIF1c.639C= (p.Phe213=)
c.699C= (p.Phe233=)
c.1086C= (p.Phe362=)
c.741C= (p.Phe247=)
c.708C= (p.Phe236=)
18g.3457820C>GCA401724066TGIF1c.639C>G (p.Phe213Leu)
c.699C>G (p.Phe233Leu)
c.1086C>G (p.Phe362Leu)
c.741C>G (p.Phe247Leu)
c.708C>G (p.Phe236Leu)
gnomAD v4
18g.3457820C>TCA295567406TGIF1c.639C>T (p.Phe213=)
c.699C>T (p.Phe233=)
c.1086C>T (p.Phe362=)
c.741C>T (p.Phe247=)
c.708C>T (p.Phe236=)
dbSNP gnomAD v2 gnomAD v4
18g.3457821A=CA2281035694TGIF1c.640A= (p.Asn214=)
c.700A= (p.Asn234=)
c.1087A= (p.Asn363=)
c.742A= (p.Asn248=)
c.709A= (p.Asn237=)
18g.3457821A>CCA401724067TGIF1c.640A>C (p.Asn214His)
c.700A>C (p.Asn234His)
c.1087A>C (p.Asn363His)
c.742A>C (p.Asn248His)
c.709A>C (p.Asn237His)
18g.3457821A>GCA401724068TGIF1c.640A>G (p.Asn214Asp)
c.700A>G (p.Asn234Asp)
c.1087A>G (p.Asn363Asp)
c.742A>G (p.Asn248Asp)
c.709A>G (p.Asn237Asp)
ClinVar dbSNP
18g.3457821A>TCA401724069TGIF1c.640A>T (p.Asn214Tyr)
c.700A>T (p.Asn234Tyr)
c.1087A>T (p.Asn363Tyr)
c.742A>T (p.Asn248Tyr)
c.709A>T (p.Asn237Tyr)
18g.3457822A>CCA401724070TGIF1c.641A>C (p.Asn214Thr)
c.701A>C (p.Asn234Thr)
c.1088A>C (p.Asn363Thr)
c.743A>C (p.Asn248Thr)
c.710A>C (p.Asn237Thr)
18g.3457822A>GCA401724071TGIF1c.641A>G (p.Asn214Ser)
c.701A>G (p.Asn234Ser)
c.1088A>G (p.Asn363Ser)
c.743A>G (p.Asn248Ser)
c.710A>G (p.Asn237Ser)
18g.3457822A>TCA401724072TGIF1c.641A>T (p.Asn214Ile)
c.701A>T (p.Asn234Ile)
c.1088A>T (p.Asn363Ile)
c.743A>T (p.Asn248Ile)
c.710A>T (p.Asn237Ile)
18g.3457823C>ACA401724073TGIF1c.642C>A (p.Asn214Lys)
c.702C>A (p.Asn234Lys)
c.1089C>A (p.Asn363Lys)
c.744C>A (p.Asn248Lys)
c.711C>A (p.Asn237Lys)
18g.3457823C>GCA401724074TGIF1c.642C>G (p.Asn214Lys)
c.702C>G (p.Asn234Lys)
c.1089C>G (p.Asn363Lys)
c.744C>G (p.Asn248Lys)
c.711C>G (p.Asn237Lys)
18g.3457823C>TCA502810528TGIF1c.642C>T (p.Asn214=)
c.702C>T (p.Asn234=)
c.1089C>T (p.Asn363=)
c.744C>T (p.Asn248=)
c.711C>T (p.Asn237=)
gnomAD v4
18g.3457824A>CCA401724077TGIF1c.643A>C (p.Thr215Pro)
c.703A>C (p.Thr235Pro)
c.1090A>C (p.Thr364Pro)
c.745A>C (p.Thr249Pro)
c.712A>C (p.Thr238Pro)
18g.3457824A>GCA401724076TGIF1c.643A>G (p.Thr215Ala)
c.703A>G (p.Thr235Ala)
c.1090A>G (p.Thr364Ala)
c.745A>G (p.Thr249Ala)
c.712A>G (p.Thr238Ala)
18g.3457824A>TCA401724075TGIF1c.643A>T (p.Thr215Ser)
c.703A>T (p.Thr235Ser)
c.1090A>T (p.Thr364Ser)
c.745A>T (p.Thr249Ser)
c.712A>T (p.Thr238Ser)
18g.3457825C>ACA401724078TGIF1c.644C>A (p.Thr215Asn)
c.704C>A (p.Thr235Asn)
c.1091C>A (p.Thr364Asn)
c.746C>A (p.Thr249Asn)
c.713C>A (p.Thr238Asn)
18g.3457825C>GCA401724079TGIF1c.644C>G (p.Thr215Ser)
c.704C>G (p.Thr235Ser)
c.1091C>G (p.Thr364Ser)
c.746C>G (p.Thr249Ser)
c.713C>G (p.Thr238Ser)
18g.3457825C>TCA401724080TGIF1c.644C>T (p.Thr215Ile)
c.704C>T (p.Thr235Ile)
c.1091C>T (p.Thr364Ile)
c.746C>T (p.Thr249Ile)
c.713C>T (p.Thr238Ile)
18g.3457826T>ACA502810532TGIF1c.645T>A (p.Thr215=)
c.705T>A (p.Thr235=)
c.1092T>A (p.Thr364=)
c.747T>A (p.Thr249=)
c.714T>A (p.Thr238=)
18g.3457826T>CCA502810533TGIF1c.645T>C (p.Thr215=)
c.705T>C (p.Thr235=)
c.1092T>C (p.Thr364=)
c.747T>C (p.Thr249=)
c.714T>C (p.Thr238=)
18g.3457826T>GCA502810534TGIF1c.645T>G (p.Thr215=)
c.705T>G (p.Thr235=)
c.1092T>G (p.Thr364=)
c.747T>G (p.Thr249=)
c.714T>G (p.Thr238=)
18g.3457827C>ACA401724081TGIF1c.646C>A (p.Pro216Thr)
c.706C>A (p.Pro236Thr)
c.1093C>A (p.Pro365Thr)
c.748C>A (p.Pro250Thr)
c.715C>A (p.Pro239Thr)
18g.3457827C>GCA401724082TGIF1c.646C>G (p.Pro216Ala)
c.706C>G (p.Pro236Ala)
c.1093C>G (p.Pro365Ala)
c.748C>G (p.Pro250Ala)
c.715C>G (p.Pro239Ala)
18g.3457827C>TCA401724083TGIF1c.646C>T (p.Pro216Ser)
c.706C>T (p.Pro236Ser)
c.1093C>T (p.Pro365Ser)
c.748C>T (p.Pro250Ser)
c.715C>T (p.Pro239Ser)
COSMIC COSMIC
18g.3457828C>ACA401724084TGIF1c.647C>A (p.Pro216His)
c.707C>A (p.Pro236His)
c.1094C>A (p.Pro365His)
c.749C>A (p.Pro250His)
c.716C>A (p.Pro239His)
18g.3457828C=CA2281035695TGIF1c.647C= (p.Pro216=)
c.707C= (p.Pro236=)
c.1094C= (p.Pro365=)
c.749C= (p.Pro250=)
c.716C= (p.Pro239=)
18g.3457828C>GCA401724085TGIF1c.647C>G (p.Pro216Arg)
c.707C>G (p.Pro236Arg)
c.1094C>G (p.Pro365Arg)
c.749C>G (p.Pro250Arg)
c.716C>G (p.Pro239Arg)
18g.3457828C>TCA401724086TGIF1c.647C>T (p.Pro216Leu)
c.707C>T (p.Pro236Leu)
c.1094C>T (p.Pro365Leu)
c.749C>T (p.Pro250Leu)
c.716C>T (p.Pro239Leu)
18g.3457829T>ACA502810539TGIF1c.648T>A (p.Pro216=)
c.708T>A (p.Pro236=)
c.1095T>A (p.Pro365=)
c.750T>A (p.Pro250=)
c.717T>A (p.Pro239=)
18g.3457829T>CCA502810540TGIF1c.648T>C (p.Pro216=)
c.708T>C (p.Pro236=)
c.1095T>C (p.Pro365=)
c.750T>C (p.Pro250=)
c.717T>C (p.Pro239=)
dbSNP gnomAD v4
18g.3457829T>GCA502810541TGIF1c.648T>G (p.Pro216=)
c.708T>G (p.Pro236=)
c.1095T>G (p.Pro365=)
c.750T>G (p.Pro250=)
c.717T>G (p.Pro239=)
18g.3457829T=CA2281035696TGIF1c.648T= (p.Pro216=)
c.708T= (p.Pro236=)
c.1095T= (p.Pro365=)
c.750T= (p.Pro250=)
c.717T= (p.Pro239=)
18g.3457829dupCA658825035TGIF1c.648dup (p.Pro217SerfsTer?)
c.708dup (p.Pro237SerfsTer?)
c.1095dup (p.Pro366SerfsTer?)
c.750dup (p.Pro251SerfsTer?)
c.717dup (p.Pro240SerfsTer?)
ClinVar dbSNP
18g.3457830C>ACA401724087TGIF1c.649C>A (p.Pro217Thr)
c.709C>A (p.Pro237Thr)
c.1096C>A (p.Pro366Thr)
c.751C>A (p.Pro251Thr)
c.718C>A (p.Pro240Thr)
18g.3457830C>GCA401724088TGIF1c.649C>G (p.Pro217Ala)
c.709C>G (p.Pro237Ala)
c.1096C>G (p.Pro366Ala)
c.751C>G (p.Pro251Ala)
c.718C>G (p.Pro240Ala)
18g.3457830C>TCA401724089TGIF1c.649C>T (p.Pro217Ser)
c.709C>T (p.Pro237Ser)
c.1096C>T (p.Pro366Ser)
c.751C>T (p.Pro251Ser)
c.718C>T (p.Pro240Ser)
18g.3457833_3457834dupCA645599960TGIF1c.652_653dup (p.Thr219LeufsTer16)
c.712_713dup (p.Thr239LeufsTer16)
c.1099_1100dup (p.Thr368LeufsTer16)
c.652_653dup (p.Thr219LeufsTer?)
c.754_755dup (p.Thr253LeufsTer16)
c.721_722dup (p.Thr242LeufsTer16)
COSMIC COSMIC
18g.3457834delCA2640853359TGIF1c.653del (p.Pro218LeufsTer16)
c.713del (p.Pro238LeufsTer16)
c.1100del (p.Pro367LeufsTer16)
c.653del (p.Pro218LeufsTer?)
c.755del (p.Pro252LeufsTer16)
c.722del (p.Pro241LeufsTer16)
gnomAD v4
18g.3457831C>ACA401724092TGIF1c.650C>A (p.Pro217His)
c.710C>A (p.Pro237His)
c.1097C>A (p.Pro366His)
c.752C>A (p.Pro251His)
c.719C>A (p.Pro240His)
18g.3457831C>GCA401724091TGIF1c.650C>G (p.Pro217Arg)
c.710C>G (p.Pro237Arg)
c.1097C>G (p.Pro366Arg)
c.752C>G (p.Pro251Arg)
c.719C>G (p.Pro240Arg)
18g.3457831C>TCA401724090TGIF1c.650C>T (p.Pro217Leu)
c.710C>T (p.Pro237Leu)
c.1097C>T (p.Pro366Leu)
c.752C>T (p.Pro251Leu)
c.719C>T (p.Pro240Leu)
18g.3457832C>ACA8876011TGIF1c.651C>A (p.Pro217=)
c.711C>A (p.Pro237=)
c.1098C>A (p.Pro366=)
c.753C>A (p.Pro251=)
c.720C>A (p.Pro240=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457832C=CA2281035697TGIF1c.651C= (p.Pro217=)
c.711C= (p.Pro237=)
c.1098C= (p.Pro366=)
c.753C= (p.Pro251=)
c.720C= (p.Pro240=)
18g.3457832C>GCA502810545TGIF1c.651C>G (p.Pro217=)
c.711C>G (p.Pro237=)
c.1098C>G (p.Pro366=)
c.753C>G (p.Pro251=)
c.720C>G (p.Pro240=)
gnomAD v4
18g.3457832C>TCA502810547TGIF1c.651C>T (p.Pro217=)
c.711C>T (p.Pro237=)
c.1098C>T (p.Pro366=)
c.753C>T (p.Pro251=)
c.720C>T (p.Pro240=)
dbSNP gnomAD v4
18g.3457833C>ACA401724093TGIF1c.652C>A (p.Pro218Thr)
c.712C>A (p.Pro238Thr)
c.1099C>A (p.Pro367Thr)
c.754C>A (p.Pro252Thr)
c.721C>A (p.Pro241Thr)
18g.3457833C>GCA401724094TGIF1c.652C>G (p.Pro218Ala)
c.712C>G (p.Pro238Ala)
c.1099C>G (p.Pro367Ala)
c.754C>G (p.Pro252Ala)
c.721C>G (p.Pro241Ala)
gnomAD v4
18g.3457833C>TCA401724095TGIF1c.652C>T (p.Pro218Ser)
c.712C>T (p.Pro238Ser)
c.1099C>T (p.Pro367Ser)
c.754C>T (p.Pro252Ser)
c.721C>T (p.Pro241Ser)
18g.3457834C>ACA401724096TGIF1c.653C>A (p.Pro218His)
c.713C>A (p.Pro238His)
c.1100C>A (p.Pro367His)
c.755C>A (p.Pro252His)
c.722C>A (p.Pro241His)
gnomAD v4
18g.3457834C>GCA401724097TGIF1c.653C>G (p.Pro218Arg)
c.713C>G (p.Pro238Arg)
c.1100C>G (p.Pro367Arg)
c.755C>G (p.Pro252Arg)
c.722C>G (p.Pro241Arg)
18g.3457834C>TCA401724098TGIF1c.653C>T (p.Pro218Leu)
c.713C>T (p.Pro238Leu)
c.1100C>T (p.Pro367Leu)
c.755C>T (p.Pro252Leu)
c.722C>T (p.Pro241Leu)
18g.3457835T>ACA502810551TGIF1c.654T>A (p.Pro218=)
c.714T>A (p.Pro238=)
c.1101T>A (p.Pro367=)
c.756T>A (p.Pro252=)
c.723T>A (p.Pro241=)
18g.3457835T>CCA502810552TGIF1c.654T>C (p.Pro218=)
c.714T>C (p.Pro238=)
c.1101T>C (p.Pro367=)
c.756T>C (p.Pro252=)
c.723T>C (p.Pro241=)
18g.3457835T>GCA502810554TGIF1c.654T>G (p.Pro218=)
c.714T>G (p.Pro238=)
c.1101T>G (p.Pro367=)
c.756T>G (p.Pro252=)
c.723T>G (p.Pro241=)
18g.3457836A>CCA401724099TGIF1c.655A>C (p.Thr219Pro)
c.715A>C (p.Thr239Pro)
c.1102A>C (p.Thr368Pro)
c.757A>C (p.Thr253Pro)
c.724A>C (p.Thr242Pro)
18g.3457836A>GCA401724100TGIF1c.655A>G (p.Thr219Ala)
c.715A>G (p.Thr239Ala)
c.1102A>G (p.Thr368Ala)
c.757A>G (p.Thr253Ala)
c.724A>G (p.Thr242Ala)
18g.3457836A>TCA401724101TGIF1c.655A>T (p.Thr219Ser)
c.715A>T (p.Thr239Ser)
c.1102A>T (p.Thr368Ser)
c.757A>T (p.Thr253Ser)
c.724A>T (p.Thr242Ser)
18g.3457837C>ACA401724102TGIF1c.656C>A (p.Thr219Asn)
c.716C>A (p.Thr239Asn)
c.1103C>A (p.Thr368Asn)
c.758C>A (p.Thr253Asn)
c.725C>A (p.Thr242Asn)
18g.3457837C>GCA401724103TGIF1c.656C>G (p.Thr219Ser)
c.716C>G (p.Thr239Ser)
c.1103C>G (p.Thr368Ser)
c.758C>G (p.Thr253Ser)
c.725C>G (p.Thr242Ser)
gnomAD v4
18g.3457837C>TCA401724104TGIF1c.656C>T (p.Thr219Ile)
c.716C>T (p.Thr239Ile)
c.1103C>T (p.Thr368Ile)
c.758C>T (p.Thr253Ile)
c.725C>T (p.Thr242Ile)
18g.3457838T>ACA502810555TGIF1c.657T>A (p.Thr219=)
c.717T>A (p.Thr239=)
c.1104T>A (p.Thr368=)
c.759T>A (p.Thr253=)
c.726T>A (p.Thr242=)
18g.3457838T>CCA502810556TGIF1c.657T>C (p.Thr219=)
c.717T>C (p.Thr239=)
c.1104T>C (p.Thr368=)
c.759T>C (p.Thr253=)
c.726T>C (p.Thr242=)
18g.3457838T>GCA502810558TGIF1c.657T>G (p.Thr219=)
c.717T>G (p.Thr239=)
c.1104T>G (p.Thr368=)
c.759T>G (p.Thr253=)
c.726T>G (p.Thr242=)
18g.3457839C>ACA401724107TGIF1c.658C>A (p.Pro220Thr)
c.718C>A (p.Pro240Thr)
c.1105C>A (p.Pro369Thr)
c.658C>A
c.760C>A (p.Pro254Thr)
c.727C>A (p.Pro243Thr)
18g.3457839C>GCA401724105TGIF1c.658C>G (p.Pro220Ala)
c.718C>G (p.Pro240Ala)
c.1105C>G (p.Pro369Ala)
c.658C>G
c.760C>G (p.Pro254Ala)
c.727C>G (p.Pro243Ala)
18g.3457839C>TCA401724106TGIF1c.658C>T (p.Pro220Ser)
c.718C>T (p.Pro240Ser)
c.1105C>T (p.Pro369Ser)
c.658C>T
c.760C>T (p.Pro254Ser)
c.727C>T (p.Pro243Ser)
18g.3457840C>ACA401724108TGIF1c.659C>A (p.Pro220Gln)
c.719C>A (p.Pro240Gln)
c.1106C>A (p.Pro369Gln)
c.761C>A (p.Pro254Gln)
c.728C>A (p.Pro243Gln)
18g.3457840C>GCA401724109TGIF1c.659C>G (p.Pro220Arg)
c.719C>G (p.Pro240Arg)
c.1106C>G (p.Pro369Arg)
c.761C>G (p.Pro254Arg)
c.728C>G (p.Pro243Arg)
18g.3457840C>TCA401724110TGIF1c.659C>T (p.Pro220Leu)
c.719C>T (p.Pro240Leu)
c.1106C>T (p.Pro369Leu)
c.761C>T (p.Pro254Leu)
c.728C>T (p.Pro243Leu)
18g.3457841A>CCA502810562TGIF1c.660A>C (p.Pro220=)
c.720A>C (p.Pro240=)
c.1107A>C (p.Pro369=)
c.762A>C (p.Pro254=)
c.729A>C (p.Pro243=)
18g.3457841A>GCA502810563TGIF1c.660A>G (p.Pro220=)
c.720A>G (p.Pro240=)
c.1107A>G (p.Pro369=)
c.762A>G (p.Pro254=)
c.729A>G (p.Pro243=)
gnomAD v4
18g.3457841A>TCA502810565TGIF1c.660A>T (p.Pro220=)
c.720A>T (p.Pro240=)
c.1107A>T (p.Pro369=)
c.762A>T (p.Pro254=)
c.729A>T (p.Pro243=)
18g.3457842C>ACA401724111TGIF1c.661C>A (p.Pro221Thr)
c.721C>A (p.Pro241Thr)
c.1108C>A (p.Pro370Thr)
c.763C>A (p.Pro255Thr)
c.730C>A (p.Pro244Thr)
18g.3457842C>GCA401724112TGIF1c.661C>G (p.Pro221Ala)
c.721C>G (p.Pro241Ala)
c.1108C>G (p.Pro370Ala)
c.763C>G (p.Pro255Ala)
c.730C>G (p.Pro244Ala)
18g.3457842C>TCA401724113TGIF1c.661C>T (p.Pro221Ser)
c.721C>T (p.Pro241Ser)
c.1108C>T (p.Pro370Ser)
c.763C>T (p.Pro255Ser)
c.730C>T (p.Pro244Ser)
18g.3457843C>ACA401724114TGIF1c.662C>A (p.Pro221Gln)
c.722C>A (p.Pro241Gln)
c.1109C>A (p.Pro370Gln)
c.764C>A (p.Pro255Gln)
c.731C>A (p.Pro244Gln)
18g.3457843C=CA2281035698TGIF1c.662C= (p.Pro221=)
c.722C= (p.Pro241=)
c.1109C= (p.Pro370=)
c.764C= (p.Pro255=)
c.731C= (p.Pro244=)
18g.3457843C>GCA401724115TGIF1c.662C>G (p.Pro221Arg)
c.722C>G (p.Pro241Arg)
c.1109C>G (p.Pro370Arg)
c.764C>G (p.Pro255Arg)
c.731C>G (p.Pro244Arg)
dbSNP
18g.3457843C>TCA401724116TGIF1c.662C>T (p.Pro221Leu)
c.722C>T (p.Pro241Leu)
c.1109C>T (p.Pro370Leu)
c.764C>T (p.Pro255Leu)
c.731C>T (p.Pro244Leu)
dbSNP gnomAD v2 gnomAD v4
18g.3457844G>ACA8876012TGIF1c.663G>A (p.Pro221=)
c.723G>A (p.Pro241=)
c.1110G>A (p.Pro370=)
c.765G>A (p.Pro255=)
c.732G>A (p.Pro244=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457844G>CCA502810569TGIF1c.663G>C (p.Pro221=)
c.723G>C (p.Pro241=)
c.1110G>C (p.Pro370=)
c.765G>C (p.Pro255=)
c.732G>C (p.Pro244=)
18g.3457844G=CA2281035699TGIF1c.663G= (p.Pro221=)
c.723G= (p.Pro241=)
c.1110G= (p.Pro370=)
c.765G= (p.Pro255=)
c.732G= (p.Pro244=)
18g.3457844G>TCA502810571TGIF1c.663G>T (p.Pro221=)
c.723G>T (p.Pro241=)
c.1110G>T (p.Pro370=)
c.765G>T (p.Pro255=)
c.732G>T (p.Pro244=)
gnomAD v4
18g.3457845G>ACA401724117TGIF1c.664G>A (p.Asp222Asn)
c.724G>A (p.Asp242Asn)
c.1111G>A (p.Asp371Asn)
c.766G>A (p.Asp256Asn)
c.733G>A (p.Asp245Asn)
18g.3457845G>CCA401724118TGIF1c.664G>C (p.Asp222His)
c.724G>C (p.Asp242His)
c.1111G>C (p.Asp371His)
c.766G>C (p.Asp256His)
c.733G>C (p.Asp245His)
18g.3457845G>TCA401724119TGIF1c.664G>T (p.Asp222Tyr)
c.724G>T (p.Asp242Tyr)
c.1111G>T (p.Asp371Tyr)
c.766G>T (p.Asp256Tyr)
c.733G>T (p.Asp245Tyr)
gnomAD v4
18g.3457846A>CCA401724121TGIF1c.665A>C (p.Asp222Ala)
c.725A>C (p.Asp242Ala)
c.1112A>C (p.Asp371Ala)
c.767A>C (p.Asp256Ala)
c.734A>C (p.Asp245Ala)
18g.3457846A>GCA401724122TGIF1c.665A>G (p.Asp222Gly)
c.725A>G (p.Asp242Gly)
c.1112A>G (p.Asp371Gly)
c.767A>G (p.Asp256Gly)
c.734A>G (p.Asp245Gly)
gnomAD v4
18g.3457846A>TCA401724120TGIF1c.665A>T (p.Asp222Val)
c.725A>T (p.Asp242Val)
c.1112A>T (p.Asp371Val)
c.767A>T (p.Asp256Val)
c.734A>T (p.Asp245Val)
18g.3457847C>ACA401724124TGIF1c.666C>A (p.Asp222Glu)
c.726C>A (p.Asp242Glu)
c.1113C>A (p.Asp371Glu)
c.768C>A (p.Asp256Glu)
c.735C>A (p.Asp245Glu)
18g.3457847C>GCA401724123TGIF1c.666C>G (p.Asp222Glu)
c.726C>G (p.Asp242Glu)
c.1113C>G (p.Asp371Glu)
c.768C>G (p.Asp256Glu)
c.735C>G (p.Asp245Glu)
18g.3457847C>TCA502810574TGIF1c.666C>T (p.Asp222=)
c.726C>T (p.Asp242=)
c.1113C>T (p.Asp371=)
c.768C>T (p.Asp256=)
c.735C>T (p.Asp245=)
gnomAD v4
18g.3457848C>ACA401724126TGIF1c.667C>A (p.Leu223Ile)
c.727C>A (p.Leu243Ile)
c.1114C>A (p.Leu372Ile)
c.769C>A (p.Leu257Ile)
c.736C>A (p.Leu246Ile)
18g.3457848C>GCA401724125TGIF1c.667C>G (p.Leu223Val)
c.727C>G (p.Leu243Val)
c.1114C>G (p.Leu372Val)
c.769C>G (p.Leu257Val)
c.736C>G (p.Leu246Val)
18g.3457848C>TCA401724127TGIF1c.667C>T (p.Leu223Phe)
c.727C>T (p.Leu243Phe)
c.1114C>T (p.Leu372Phe)
c.769C>T (p.Leu257Phe)
c.736C>T (p.Leu246Phe)
gnomAD v4
18g.3457849T>ACA401724128TGIF1c.668T>A (p.Leu223His)
c.728T>A (p.Leu243His)
c.1115T>A (p.Leu372His)
c.770T>A (p.Leu257His)
c.737T>A (p.Leu246His)
18g.3457849T>CCA401724129TGIF1c.668T>C (p.Leu223Pro)
c.728T>C (p.Leu243Pro)
c.1115T>C (p.Leu372Pro)
c.770T>C (p.Leu257Pro)
c.737T>C (p.Leu246Pro)
gnomAD v4
18g.3457849T>GCA401724130TGIF1c.668T>G (p.Leu223Arg)
c.728T>G (p.Leu243Arg)
c.1115T>G (p.Leu372Arg)
c.770T>G (p.Leu257Arg)
c.737T>G (p.Leu246Arg)
18g.3457850C>ACA502810576TGIF1c.669C>A (p.Leu223=)
c.729C>A (p.Leu243=)
c.1116C>A (p.Leu372=)
c.771C>A (p.Leu257=)
c.738C>A (p.Leu246=)
gnomAD v4
18g.3457850C>GCA502810577TGIF1c.669C>G (p.Leu223=)
c.729C>G (p.Leu243=)
c.1116C>G (p.Leu372=)
c.771C>G (p.Leu257=)
c.738C>G (p.Leu246=)
18g.3457850C>TCA502810578TGIF1c.669C>T (p.Leu223=)
c.729C>T (p.Leu243=)
c.1116C>T (p.Leu372=)
c.771C>T (p.Leu257=)
c.738C>T (p.Leu246=)
COSMIC COSMIC
18g.3457851A>CCA401724131TGIF1c.670A>C (p.Asn224His)
c.730A>C (p.Asn244His)
c.1117A>C (p.Asn373His)
c.772A>C (p.Asn258His)
c.739A>C (p.Asn247His)
gnomAD v4
18g.3457851A>GCA401724132TGIF1c.670A>G (p.Asn224Asp)
c.730A>G (p.Asn244Asp)
c.1117A>G (p.Asn373Asp)
c.772A>G (p.Asn258Asp)
c.739A>G (p.Asn247Asp)
18g.3457851A>TCA401724133TGIF1c.670A>T (p.Asn224Tyr)
c.730A>T (p.Asn244Tyr)
c.1117A>T (p.Asn373Tyr)
c.772A>T (p.Asn258Tyr)
c.739A>T (p.Asn247Tyr)
18g.3457852A=CA2281035700TGIF1c.671A= (p.Asn224=)
c.731A= (p.Asn244=)
c.1118A= (p.Asn373=)
c.773A= (p.Asn258=)
c.740A= (p.Asn247=)
18g.3457852A>CCA401724135TGIF1c.671A>C (p.Asn224Thr)
c.731A>C (p.Asn244Thr)
c.1118A>C (p.Asn373Thr)
c.773A>C (p.Asn258Thr)
c.740A>C (p.Asn247Thr)
dbSNP gnomAD v2 gnomAD v4
18g.3457852A>GCA8876013TGIF1c.671A>G (p.Asn224Ser)
c.731A>G (p.Asn244Ser)
c.1118A>G (p.Asn373Ser)
c.773A>G (p.Asn258Ser)
c.740A>G (p.Asn247Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457852A>TCA401724134TGIF1c.671A>T (p.Asn224Ile)
c.731A>T (p.Asn244Ile)
c.1118A>T (p.Asn373Ile)
c.773A>T (p.Asn258Ile)
c.740A>T (p.Asn247Ile)
18g.3457853C>ACA401724136TGIF1c.672C>A (p.Asn224Lys)
c.732C>A (p.Asn244Lys)
c.1119C>A (p.Asn373Lys)
c.774C>A (p.Asn258Lys)
c.741C>A (p.Asn247Lys)
18g.3457853C>GCA401724137TGIF1c.672C>G (p.Asn224Lys)
c.732C>G (p.Asn244Lys)
c.1119C>G (p.Asn373Lys)
c.774C>G (p.Asn258Lys)
c.741C>G (p.Asn247Lys)
18g.3457853C>TCA502810581TGIF1c.672C>T (p.Asn224=)
c.732C>T (p.Asn244=)
c.1119C>T (p.Asn373=)
c.774C>T (p.Asn258=)
c.741C>T (p.Asn247=)
18g.3457853_3457854insACCAAACACACCCAACACA2810783810TGIF1c.672_673insACCAAACACACCCAACA (p.Gln225ThrfsTer15)
c.732_733insACCAAACACACCCAACA (p.Gln245ThrfsTer15)
c.1119_1120insACCAAACACACCCAACA (p.Gln374ThrfsTer15)
c.774_775insACCAAACACACCCAACA (p.Gln259ThrfsTer15)
c.741_742insACCAAACACACCCAACA (p.Gln248ThrfsTer15)
18g.3457854C>ACA401724138TGIF1c.673C>A (p.Gln225Lys)
c.733C>A (p.Gln245Lys)
c.1120C>A (p.Gln374Lys)
c.775C>A (p.Gln259Lys)
c.742C>A (p.Gln248Lys)
18g.3457854C>GCA401724139TGIF1c.673C>G (p.Gln225Glu)
c.733C>G (p.Gln245Glu)
c.1120C>G (p.Gln374Glu)
c.775C>G (p.Gln259Glu)
c.742C>G (p.Gln248Glu)
gnomAD v4
18g.3457854C>TCA401724140TGIF1c.673C>T (p.Gln225Ter)
c.733C>T (p.Gln245Ter)
c.1120C>T (p.Gln374Ter)
c.775C>T (p.Gln259Ter)
c.742C>T (p.Gln248Ter)
18g.3457855A>CCA401724141TGIF1c.674A>C (p.Gln225Pro)
c.734A>C (p.Gln245Pro)
c.1121A>C (p.Gln374Pro)
c.776A>C (p.Gln259Pro)
c.743A>C (p.Gln248Pro)
18g.3457855A>GCA401724143TGIF1c.674A>G (p.Gln225Arg)
c.734A>G (p.Gln245Arg)
c.1121A>G (p.Gln374Arg)
c.776A>G (p.Gln259Arg)
c.743A>G (p.Gln248Arg)
ClinVar
18g.3457855A>TCA401724142TGIF1c.674A>T (p.Gln225Leu)
c.734A>T (p.Gln245Leu)
c.1121A>T (p.Gln374Leu)
c.776A>T (p.Gln259Leu)
c.743A>T (p.Gln248Leu)
18g.3457856G>ACA502810583TGIF1c.675G>A (p.Gln225=)
c.735G>A (p.Gln245=)
c.1122G>A (p.Gln374=)
c.777G>A (p.Gln259=)
c.744G>A (p.Gln248=)
18g.3457856G>CCA401724144TGIF1c.675G>C (p.Gln225His)
c.735G>C (p.Gln245His)
c.1122G>C (p.Gln374His)
c.777G>C (p.Gln259His)
c.744G>C (p.Gln248His)
18g.3457856G>TCA401724145TGIF1c.675G>T (p.Gln225His)
c.735G>T (p.Gln245His)
c.1122G>T (p.Gln374His)
c.777G>T (p.Gln259His)
c.744G>T (p.Gln248His)
gnomAD v4

Number of alleles fetched