Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.3457520G>ACA401723447TGIF1c.339G>A (p.Met113Ile)
c.399G>A (p.Met133Ile)
c.786G>A (p.Met262Ile)
c.*112G>A (n.*112G>A)
c.441G>A (p.Met147Ile)
c.408G>A (p.Met136Ile)
18g.3457520G>CCA401723448TGIF1c.339G>C (p.Met113Ile)
c.399G>C (p.Met133Ile)
c.786G>C (p.Met262Ile)
c.*112G>C (n.*112G>C)
c.441G>C (p.Met147Ile)
c.408G>C (p.Met136Ile)
18g.3457520G>TCA401723449TGIF1c.339G>T (p.Met113Ile)
c.399G>T (p.Met133Ile)
c.786G>T (p.Met262Ile)
c.*112G>T (n.*112G>T)
c.441G>T (p.Met147Ile)
c.408G>T (p.Met136Ile)
gnomAD v4
18g.3457521C>ACA401723450TGIF1c.340C>A (p.Pro114Thr)
c.400C>A (p.Pro134Thr)
c.787C>A (p.Pro263Thr)
c.*113C>A (n.*113C>A)
c.442C>A (p.Pro148Thr)
c.409C>A (p.Pro137Thr)
gnomAD v4
18g.3457521C>GCA401723451TGIF1c.340C>G (p.Pro114Ala)
c.400C>G (p.Pro134Ala)
c.787C>G (p.Pro263Ala)
c.*113C>G (n.*113C>G)
c.442C>G (p.Pro148Ala)
c.409C>G (p.Pro137Ala)
18g.3457521C>TCA401723452TGIF1c.340C>T (p.Pro114Ser)
c.400C>T (p.Pro134Ser)
c.787C>T (p.Pro263Ser)
c.*113C>T (n.*113C>T)
c.442C>T (p.Pro148Ser)
c.409C>T (p.Pro137Ser)
18g.3457522C>ACA401723453TGIF1c.341C>A (p.Pro114Gln)
c.401C>A (p.Pro134Gln)
c.788C>A (p.Pro263Gln)
c.*114C>A (n.*114C>A)
c.443C>A (p.Pro148Gln)
c.410C>A (p.Pro137Gln)
18g.3457522C=CA2281035550TGIF1c.341C= (p.Pro114=)
c.401C= (p.Pro134=)
c.788C= (p.Pro263=)
c.*114C= (n.*114C=)
c.443C= (p.Pro148=)
c.410C= (p.Pro137=)
18g.3457522C>GCA401723454TGIF1c.341C>G (p.Pro114Arg)
c.401C>G (p.Pro134Arg)
c.788C>G (p.Pro263Arg)
c.*114C>G (n.*114C>G)
c.443C>G (p.Pro148Arg)
c.410C>G (p.Pro137Arg)
18g.3457522C>TCA8875945TGIF1c.341C>T (p.Pro114Leu)
c.401C>T (p.Pro134Leu)
c.788C>T (p.Pro263Leu)
c.*114C>T (n.*114C>T)
c.443C>T (p.Pro148Leu)
c.410C>T (p.Pro137Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457523A>CCA502810473TGIF1c.342A>C (p.Pro114=)
c.402A>C (p.Pro134=)
c.789A>C (p.Pro263=)
c.*115A>C (n.*115A>C)
c.444A>C (p.Pro148=)
c.411A>C (p.Pro137=)
18g.3457523A>GCA502810474TGIF1c.342A>G (p.Pro114=)
c.402A>G (p.Pro134=)
c.789A>G (p.Pro263=)
c.*115A>G (n.*115A>G)
c.444A>G (p.Pro148=)
c.411A>G (p.Pro137=)
18g.3457523A>TCA502810475TGIF1c.342A>T (p.Pro114=)
c.402A>T (p.Pro134=)
c.789A>T (p.Pro263=)
c.*115A>T (n.*115A>T)
c.444A>T (p.Pro148=)
c.411A>T (p.Pro137=)
18g.3457524G>ACA8875946TGIF1c.343G>A (p.Ala115Thr)
c.403G>A (p.Ala135Thr)
c.790G>A (p.Ala264Thr)
c.*116G>A (n.*116G>A)
c.445G>A (p.Ala149Thr)
c.412G>A (p.Ala138Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457524G>CCA401723456TGIF1c.343G>C (p.Ala115Pro)
c.403G>C (p.Ala135Pro)
c.790G>C (p.Ala264Pro)
c.*116G>C (n.*116G>C)
c.445G>C (p.Ala149Pro)
c.412G>C (p.Ala138Pro)
18g.3457524G=CA2281035551TGIF1c.343G= (p.Ala115=)
c.403G= (p.Ala135=)
c.790G= (p.Ala264=)
c.*116G= (n.*116G=)
c.445G= (p.Ala149=)
c.412G= (p.Ala138=)
18g.3457524G>TCA401723455TGIF1c.343G>T (p.Ala115Ser)
c.403G>T (p.Ala135Ser)
c.790G>T (p.Ala264Ser)
c.*116G>T (n.*116G>T)
c.445G>T (p.Ala149Ser)
c.412G>T (p.Ala138Ser)
COSMIC COSMIC
18g.3457525C>ACA401723457TGIF1c.344C>A (p.Ala115Asp)
c.404C>A (p.Ala135Asp)
c.791C>A (p.Ala264Asp)
c.*117C>A (n.*117C>A)
c.446C>A (p.Ala149Asp)
c.413C>A (p.Ala138Asp)
18g.3457525C>GCA401723458TGIF1c.344C>G (p.Ala115Gly)
c.404C>G (p.Ala135Gly)
c.791C>G (p.Ala264Gly)
c.*117C>G (n.*117C>G)
c.446C>G (p.Ala149Gly)
c.413C>G (p.Ala138Gly)
18g.3457525C>TCA401723459TGIF1c.344C>T (p.Ala115Val)
c.404C>T (p.Ala135Val)
c.791C>T (p.Ala264Val)
c.*117C>T (n.*117C>T)
c.446C>T (p.Ala149Val)
c.413C>T (p.Ala138Val)
18g.3457526T>ACA502810477TGIF1c.345T>A (p.Ala115=)
c.405T>A (p.Ala135=)
c.792T>A (p.Ala264=)
c.*118T>A (n.*118T>A)
c.447T>A (p.Ala149=)
c.414T>A (p.Ala138=)
18g.3457526T>CCA502810478TGIF1c.345T>C (p.Ala115=)
c.405T>C (p.Ala135=)
c.792T>C (p.Ala264=)
c.*118T>C (n.*118T>C)
c.447T>C (p.Ala149=)
c.414T>C (p.Ala138=)
gnomAD v4
18g.3457526T>GCA502810479TGIF1c.345T>G (p.Ala115=)
c.405T>G (p.Ala135=)
c.792T>G (p.Ala264=)
c.*118T>G (n.*118T>G)
c.447T>G (p.Ala149=)
c.414T>G (p.Ala138=)
18g.3457527C>ACA401723460TGIF1c.346C>A (p.Leu116Ile)
c.406C>A (p.Leu136Ile)
c.793C>A (p.Leu265Ile)
c.*119C>A (n.*119C>A)
c.448C>A (p.Leu150Ile)
c.415C>A (p.Leu139Ile)
18g.3457527C>GCA401723461TGIF1c.346C>G (p.Leu116Val)
c.406C>G (p.Leu136Val)
c.793C>G (p.Leu265Val)
c.*119C>G (n.*119C>G)
c.448C>G (p.Leu150Val)
c.415C>G (p.Leu139Val)
gnomAD v4 COSMIC COSMIC
18g.3457527C>TCA502810480TGIF1c.346C>T (p.Leu116=)
c.406C>T (p.Leu136=)
c.793C>T (p.Leu265=)
c.*119C>T (n.*119C>T)
c.448C>T (p.Leu150=)
c.415C>T (p.Leu139=)
18g.3457528T>ACA401723462TGIF1c.347T>A (p.Leu116Gln)
c.407T>A (p.Leu136Gln)
c.794T>A (p.Leu265Gln)
c.*120T>A (n.*120T>A)
c.449T>A (p.Leu150Gln)
c.416T>A (p.Leu139Gln)
18g.3457528T>CCA401723463TGIF1c.347T>C (p.Leu116Pro)
c.407T>C (p.Leu136Pro)
c.794T>C (p.Leu265Pro)
c.*120T>C (n.*120T>C)
c.449T>C (p.Leu150Pro)
c.416T>C (p.Leu139Pro)
18g.3457528T>GCA401723464TGIF1c.347T>G (p.Leu116Arg)
c.407T>G (p.Leu136Arg)
c.794T>G (p.Leu265Arg)
c.*120T>G (n.*120T>G)
c.449T>G (p.Leu150Arg)
c.416T>G (p.Leu139Arg)
18g.3457529A=CA2281035552TGIF1c.348A= (p.Leu116=)
c.408A= (p.Leu136=)
c.795A= (p.Leu265=)
c.*121A= (n.*121A=)
c.450A= (p.Leu150=)
c.417A= (p.Leu139=)
18g.3457529A>CCA502810484TGIF1c.348A>C (p.Leu116=)
c.408A>C (p.Leu136=)
c.795A>C (p.Leu265=)
c.*121A>C (n.*121A>C)
c.450A>C (p.Leu150=)
c.417A>C (p.Leu139=)
18g.3457529A>GCA8875947TGIF1c.348A>G (p.Leu116=)
c.408A>G (p.Leu136=)
c.795A>G (p.Leu265=)
c.*121A>G (n.*121A>G)
c.450A>G (p.Leu150=)
c.417A>G (p.Leu139=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457529A>TCA502810485TGIF1c.348A>T (p.Leu116=)
c.408A>T (p.Leu136=)
c.795A>T (p.Leu265=)
c.*121A>T (n.*121A>T)
c.450A>T (p.Leu150=)
c.417A>T (p.Leu139=)
18g.3457530G>ACA8875948TGIF1c.349G>A (p.Glu117Lys)
c.409G>A (p.Glu137Lys)
c.796G>A (p.Glu266Lys)
c.*122G>A (n.*122G>A)
c.451G>A (p.Glu151Lys)
c.418G>A (p.Glu140Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457530G>CCA401723466TGIF1c.349G>C (p.Glu117Gln)
c.409G>C (p.Glu137Gln)
c.796G>C (p.Glu266Gln)
c.*122G>C (n.*122G>C)
c.451G>C (p.Glu151Gln)
c.418G>C (p.Glu140Gln)
18g.3457530G=CA2281035553TGIF1c.349G= (p.Glu117=)
c.409G= (p.Glu137=)
c.796G= (p.Glu266=)
c.*122G= (n.*122G=)
c.451G= (p.Glu151=)
c.418G= (p.Glu140=)
18g.3457530G>TCA401723465TGIF1c.349G>T (p.Glu117Ter)
c.409G>T (p.Glu137Ter)
c.796G>T (p.Glu266Ter)
c.*122G>T (n.*122G>T)
c.451G>T (p.Glu151Ter)
c.418G>T (p.Glu140Ter)
18g.3457531A>CCA401723467TGIF1c.350A>C (p.Glu117Ala)
c.410A>C (p.Glu137Ala)
c.797A>C (p.Glu266Ala)
c.*123A>C (n.*123A>C)
c.452A>C (p.Glu151Ala)
c.419A>C (p.Glu140Ala)
18g.3457531A>GCA401723468TGIF1c.350A>G (p.Glu117Gly)
c.410A>G (p.Glu137Gly)
c.797A>G (p.Glu266Gly)
c.*123A>G (n.*123A>G)
c.452A>G (p.Glu151Gly)
c.419A>G (p.Glu140Gly)
18g.3457531A>TCA401723469TGIF1c.350A>T (p.Glu117Val)
c.410A>T (p.Glu137Val)
c.797A>T (p.Glu266Val)
c.*123A>T (n.*123A>T)
c.452A>T (p.Glu151Val)
c.419A>T (p.Glu140Val)
18g.3457532G>ACA8875949TGIF1c.351G>A (p.Glu117=)
c.411G>A (p.Glu137=)
c.798G>A (p.Glu266=)
c.*124G>A (n.*124G>A)
c.453G>A (p.Glu151=)
c.420G>A (p.Glu140=)
dbSNP ExAC gnomAD v2
18g.3457532G>CCA401723470TGIF1c.351G>C (p.Glu117Asp)
c.411G>C (p.Glu137Asp)
c.798G>C (p.Glu266Asp)
c.*124G>C (n.*124G>C)
c.453G>C (p.Glu151Asp)
c.420G>C (p.Glu140Asp)
18g.3457532G=CA2281035554TGIF1c.351G= (p.Glu117=)
c.411G= (p.Glu137=)
c.798G= (p.Glu266=)
c.*124G= (n.*124G=)
c.453G= (p.Glu151=)
c.420G= (p.Glu140=)
18g.3457532G>TCA401723471TGIF1c.351G>T (p.Glu117Asp)
c.411G>T (p.Glu137Asp)
c.798G>T (p.Glu266Asp)
c.*124G>T (n.*124G>T)
c.453G>T (p.Glu151Asp)
c.420G>T (p.Glu140Asp)
18g.3457533G>ACA401723472TGIF1c.352G>A (p.Glu118Lys)
c.412G>A (p.Glu138Lys)
c.799G>A (p.Glu267Lys)
c.*125G>A (n.*125G>A)
c.454G>A (p.Glu152Lys)
c.421G>A (p.Glu141Lys)
dbSNP gnomAD v3 gnomAD v4
18g.3457533G>CCA401723473TGIF1c.352G>C (p.Glu118Gln)
c.412G>C (p.Glu138Gln)
c.799G>C (p.Glu267Gln)
c.*125G>C (n.*125G>C)
c.454G>C (p.Glu152Gln)
c.421G>C (p.Glu141Gln)
18g.3457533G=CA2281035555TGIF1c.352G= (p.Glu118=)
c.412G= (p.Glu138=)
c.799G= (p.Glu267=)
c.*125G= (n.*125G=)
c.454G= (p.Glu152=)
c.421G= (p.Glu141=)
18g.3457533G>TCA401723474TGIF1c.352G>T (p.Glu118Ter)
c.412G>T (p.Glu138Ter)
c.799G>T (p.Glu267Ter)
c.*125G>T (n.*125G>T)
c.454G>T (p.Glu152Ter)
c.421G>T (p.Glu141Ter)
18g.3457534A>CCA401723475TGIF1c.353A>C (p.Glu118Ala)
c.413A>C (p.Glu138Ala)
c.800A>C (p.Glu267Ala)
c.*126A>C (n.*126A>C)
c.455A>C (p.Glu152Ala)
c.422A>C (p.Glu141Ala)
18g.3457534A>GCA401723476TGIF1c.353A>G (p.Glu118Gly)
c.413A>G (p.Glu138Gly)
c.800A>G (p.Glu267Gly)
c.*126A>G (n.*126A>G)
c.455A>G (p.Glu152Gly)
c.422A>G (p.Glu141Gly)
18g.3457534A>TCA401723477TGIF1c.353A>T (p.Glu118Val)
c.413A>T (p.Glu138Val)
c.800A>T (p.Glu267Val)
c.*126A>T (n.*126A>T)
c.455A>T (p.Glu152Val)
c.422A>T (p.Glu141Val)
18g.3457535G>ACA502810492TGIF1c.354G>A (p.Glu118=)
c.414G>A (p.Glu138=)
c.801G>A (p.Glu267=)
c.*127G>A (n.*127G>A)
c.456G>A (p.Glu152=)
c.423G>A (p.Glu141=)
18g.3457535G>CCA401723479TGIF1c.354G>C (p.Glu118Asp)
c.414G>C (p.Glu138Asp)
c.801G>C (p.Glu267Asp)
c.*127G>C (n.*127G>C)
c.456G>C (p.Glu152Asp)
c.423G>C (p.Glu141Asp)
18g.3457535G>TCA401723478TGIF1c.354G>T (p.Glu118Asp)
c.414G>T (p.Glu138Asp)
c.801G>T (p.Glu267Asp)
c.*127G>T (n.*127G>T)
c.456G>T (p.Glu152Asp)
c.423G>T (p.Glu141Asp)
18g.3457536A=CA2281035556TGIF1c.355A= (p.Thr119=)
c.415A= (p.Thr139=)
c.802A= (p.Thr268=)
c.*128A= (n.*128A=)
c.457A= (p.Thr153=)
c.424A= (p.Thr142=)
18g.3457536A>CCA401723480TGIF1c.355A>C (p.Thr119Pro)
c.415A>C (p.Thr139Pro)
c.802A>C (p.Thr268Pro)
c.*128A>C (n.*128A>C)
c.457A>C (p.Thr153Pro)
c.424A>C (p.Thr142Pro)
18g.3457536A>GCA401723481TGIF1c.355A>G (p.Thr119Ala)
c.415A>G (p.Thr139Ala)
c.802A>G (p.Thr268Ala)
c.*128A>G (n.*128A>G)
c.457A>G (p.Thr153Ala)
c.424A>G (p.Thr142Ala)
dbSNP
18g.3457536A>TCA401723482TGIF1c.355A>T (p.Thr119Ser)
c.415A>T (p.Thr139Ser)
c.802A>T (p.Thr268Ser)
c.*128A>T (n.*128A>T)
c.457A>T (p.Thr153Ser)
c.424A>T (p.Thr142Ser)
18g.3457537C>ACA8875950TGIF1c.356C>A (p.Thr119Asn)
c.416C>A (p.Thr139Asn)
c.803C>A (p.Thr268Asn)
c.*129C>A (n.*129C>A)
c.458C>A (p.Thr153Asn)
c.425C>A (p.Thr142Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457537C=CA2281035557TGIF1c.356C= (p.Thr119=)
c.416C= (p.Thr139=)
c.803C= (p.Thr268=)
c.*129C= (n.*129C=)
c.458C= (p.Thr153=)
c.425C= (p.Thr142=)
18g.3457537C>GCA401723483TGIF1c.356C>G (p.Thr119Ser)
c.416C>G (p.Thr139Ser)
c.803C>G (p.Thr268Ser)
c.*129C>G (n.*129C>G)
c.458C>G (p.Thr153Ser)
c.425C>G (p.Thr142Ser)
18g.3457537C>TCA401723484TGIF1c.356C>T (p.Thr119Ile)
c.416C>T (p.Thr139Ile)
c.803C>T (p.Thr268Ile)
c.*129C>T (n.*129C>T)
c.458C>T (p.Thr153Ile)
c.425C>T (p.Thr142Ile)
dbSNP gnomAD v2 gnomAD v4
18g.3457538C>ACA502810493TGIF1c.357C>A (p.Thr119=)
c.417C>A (p.Thr139=)
c.804C>A (p.Thr268=)
c.*130C>A (n.*130C>A)
c.459C>A (p.Thr153=)
c.426C>A (p.Thr142=)
dbSNP gnomAD v2 gnomAD v4
18g.3457538C=CA2281035558TGIF1c.357C= (p.Thr119=)
c.417C= (p.Thr139=)
c.804C= (p.Thr268=)
c.*130C= (n.*130C=)
c.459C= (p.Thr153=)
c.426C= (p.Thr142=)
18g.3457538C>GCA502810494TGIF1c.357C>G (p.Thr119=)
c.417C>G (p.Thr139=)
c.804C>G (p.Thr268=)
c.*130C>G (n.*130C>G)
c.459C>G (p.Thr153=)
c.426C>G (p.Thr142=)
18g.3457538C>TCA502810495TGIF1c.357C>T (p.Thr119=)
c.417C>T (p.Thr139=)
c.804C>T (p.Thr268=)
c.*130C>T (n.*130C>T)
c.459C>T (p.Thr153=)
c.426C>T (p.Thr142=)
18g.3457539C>ACA401723485TGIF1c.358C>A (p.Pro120Thr)
c.418C>A (p.Pro140Thr)
c.805C>A (p.Pro269Thr)
c.*131C>A (n.*131C>A)
c.460C>A (p.Pro154Thr)
c.427C>A (p.Pro143Thr)
18g.3457539C=CA2281035559TGIF1c.358C= (p.Pro120=)
c.418C= (p.Pro140=)
c.805C= (p.Pro269=)
c.*131C= (n.*131C=)
c.460C= (p.Pro154=)
c.427C= (p.Pro143=)
18g.3457539C>GCA401723486TGIF1c.358C>G (p.Pro120Ala)
c.418C>G (p.Pro140Ala)
c.805C>G (p.Pro269Ala)
c.*131C>G (n.*131C>G)
c.460C>G (p.Pro154Ala)
c.427C>G (p.Pro143Ala)
dbSNP
18g.3457539C>TCA401723487TGIF1c.358C>T (p.Pro120Ser)
c.418C>T (p.Pro140Ser)
c.805C>T (p.Pro269Ser)
c.*131C>T (n.*131C>T)
c.460C>T (p.Pro154Ser)
c.427C>T (p.Pro143Ser)
gnomAD v4
18g.3457540C>ACA401723488TGIF1c.359C>A (p.Pro120Gln)
c.419C>A (p.Pro140Gln)
c.806C>A (p.Pro269Gln)
c.*132C>A (n.*132C>A)
c.461C>A (p.Pro154Gln)
c.428C>A (p.Pro143Gln)
18g.3457540C=CA2281035560TGIF1c.359C= (p.Pro120=)
c.419C= (p.Pro140=)
c.806C= (p.Pro269=)
c.*132C= (n.*132C=)
c.461C= (p.Pro154=)
c.428C= (p.Pro143=)
18g.3457540C>GCA401723489TGIF1c.359C>G (p.Pro120Arg)
c.419C>G (p.Pro140Arg)
c.806C>G (p.Pro269Arg)
c.*132C>G (n.*132C>G)
c.461C>G (p.Pro154Arg)
c.428C>G (p.Pro143Arg)
18g.3457540C>TCA8875951TGIF1c.359C>T (p.Pro120Leu)
c.419C>T (p.Pro140Leu)
c.806C>T (p.Pro269Leu)
c.*132C>T (n.*132C>T)
c.461C>T (p.Pro154Leu)
c.428C>T (p.Pro143Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457541A=CA2281035561TGIF1c.360A= (p.Pro120=)
c.420A= (p.Pro140=)
c.807A= (p.Pro269=)
c.*133A= (n.*133A=)
c.462A= (p.Pro154=)
c.429A= (p.Pro143=)
18g.3457541A>CCA502810496TGIF1c.360A>C (p.Pro120=)
c.420A>C (p.Pro140=)
c.807A>C (p.Pro269=)
c.*133A>C (n.*133A>C)
c.462A>C (p.Pro154=)
c.429A>C (p.Pro143=)
18g.3457541A>GCA8875952TGIF1c.360A>G (p.Pro120=)
c.420A>G (p.Pro140=)
c.807A>G (p.Pro269=)
c.*133A>G (n.*133A>G)
c.462A>G (p.Pro154=)
c.429A>G (p.Pro143=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457541A>TCA502810497TGIF1c.360A>T (p.Pro120=)
c.420A>T (p.Pro140=)
c.807A>T (p.Pro269=)
c.*133A>T (n.*133A>T)
c.462A>T (p.Pro154=)
c.429A>T (p.Pro143=)
gnomAD v4
18g.3457542T>ACA401723492TGIF1c.361T>A (p.Phe121Ile)
c.421T>A (p.Phe141Ile)
c.808T>A (p.Phe270Ile)
c.*134T>A (n.*134T>A)
c.463T>A (p.Phe155Ile)
c.430T>A (p.Phe144Ile)
18g.3457542T>CCA401723491TGIF1c.361T>C (p.Phe121Leu)
c.421T>C (p.Phe141Leu)
c.808T>C (p.Phe270Leu)
c.*134T>C (n.*134T>C)
c.463T>C (p.Phe155Leu)
c.430T>C (p.Phe144Leu)
18g.3457542T>GCA401723490TGIF1c.361T>G (p.Phe121Val)
c.421T>G (p.Phe141Val)
c.808T>G (p.Phe270Val)
c.*134T>G (n.*134T>G)
c.463T>G (p.Phe155Val)
c.430T>G (p.Phe144Val)
18g.3457543T>ACA401723493TGIF1c.362T>A (p.Phe121Tyr)
c.422T>A (p.Phe141Tyr)
c.809T>A (p.Phe270Tyr)
c.*135T>A (n.*135T>A)
c.464T>A (p.Phe155Tyr)
c.431T>A (p.Phe144Tyr)
18g.3457543T>CCA401723495TGIF1c.362T>C (p.Phe121Ser)
c.422T>C (p.Phe141Ser)
c.809T>C (p.Phe270Ser)
c.*135T>C (n.*135T>C)
c.464T>C (p.Phe155Ser)
c.431T>C (p.Phe144Ser)
dbSNP
18g.3457543T>GCA401723494TGIF1c.362T>G (p.Phe121Cys)
c.422T>G (p.Phe141Cys)
c.809T>G (p.Phe270Cys)
c.*135T>G (n.*135T>G)
c.464T>G (p.Phe155Cys)
c.431T>G (p.Phe144Cys)
18g.3457543T=CA2281035562TGIF1c.362T= (p.Phe121=)
c.422T= (p.Phe141=)
c.809T= (p.Phe270=)
c.*135T= (n.*135T=)
c.464T= (p.Phe155=)
c.431T= (p.Phe144=)
18g.3457544T>ACA401723496TGIF1c.363T>A (p.Phe121Leu)
c.423T>A (p.Phe141Leu)
c.810T>A (p.Phe270Leu)
c.*136T>A (n.*136T>A)
c.465T>A (p.Phe155Leu)
c.432T>A (p.Phe144Leu)
18g.3457544T>CCA502810499TGIF1c.363T>C (p.Phe121=)
c.423T>C (p.Phe141=)
c.810T>C (p.Phe270=)
c.*136T>C (n.*136T>C)
c.465T>C (p.Phe155=)
c.432T>C (p.Phe144=)
18g.3457544T>GCA401723497TGIF1c.363T>G (p.Phe121Leu)
c.423T>G (p.Phe141Leu)
c.810T>G (p.Phe270Leu)
c.*136T>G (n.*136T>G)
c.465T>G (p.Phe155Leu)
c.432T>G (p.Phe144Leu)
18g.3457545C>ACA401723498TGIF1c.364C>A (p.His122Asn)
c.424C>A (p.His142Asn)
c.811C>A (p.His271Asn)
c.*137C>A (n.*137C>A)
c.466C>A (p.His156Asn)
c.433C>A (p.His145Asn)
dbSNP
18g.3457545C=CA2281035563TGIF1c.364C= (p.His122=)
c.424C= (p.His142=)
c.811C= (p.His271=)
c.*137C= (n.*137C=)
c.466C= (p.His156=)
c.433C= (p.His145=)
18g.3457545C>GCA401723499TGIF1c.364C>G (p.His122Asp)
c.424C>G (p.His142Asp)
c.811C>G (p.His271Asp)
c.*137C>G (n.*137C>G)
c.466C>G (p.His156Asp)
c.433C>G (p.His145Asp)
18g.3457545C>TCA401723500TGIF1c.364C>T (p.His122Tyr)
c.424C>T (p.His142Tyr)
c.811C>T (p.His271Tyr)
c.*137C>T (n.*137C>T)
c.466C>T (p.His156Tyr)
c.433C>T (p.His145Tyr)
gnomAD v4
18g.3457546A=CA2281035564TGIF1c.365A= (p.His122=)
c.425A= (p.His142=)
c.812A= (p.His271=)
c.*138A= (n.*138A=)
c.467A= (p.His156=)
c.434A= (p.His145=)
18g.3457546A>CCA401723501TGIF1c.365A>C (p.His122Pro)
c.425A>C (p.His142Pro)
c.812A>C (p.His271Pro)
c.*138A>C (n.*138A>C)
c.467A>C (p.His156Pro)
c.434A>C (p.His145Pro)
gnomAD v4
18g.3457546A>GCA295567148TGIF1c.365A>G (p.His122Arg)
c.425A>G (p.His142Arg)
c.812A>G (p.His271Arg)
c.*138A>G (n.*138A>G)
c.467A>G (p.His156Arg)
c.434A>G (p.His145Arg)
dbSNP
18g.3457546A>TCA401723502TGIF1c.365A>T (p.His122Leu)
c.425A>T (p.His142Leu)
c.812A>T (p.His271Leu)
c.*138A>T (n.*138A>T)
c.467A>T (p.His156Leu)
c.434A>T (p.His145Leu)
18g.3457547T>ACA401723503TGIF1c.366T>A (p.His122Gln)
c.426T>A (p.His142Gln)
c.813T>A (p.His271Gln)
c.*139T>A (n.*139T>A)
c.468T>A (p.His156Gln)
c.435T>A (p.His145Gln)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.3457547T>CCA295567149TGIF1c.366T>C (p.His122=)
c.426T>C (p.His142=)
c.813T>C (p.His271=)
c.*139T>C (n.*139T>C)
c.468T>C (p.His156=)
c.435T>C (p.His145=)
dbSNP gnomAD v4
18g.3457547T>GCA401723504TGIF1c.366T>G (p.His122Gln)
c.426T>G (p.His142Gln)
c.813T>G (p.His271Gln)
c.*139T>G (n.*139T>G)
c.468T>G (p.His156Gln)
c.435T>G (p.His145Gln)
18g.3457547T=CA2281035565TGIF1c.366T= (p.His122=)
c.426T= (p.His142=)
c.813T= (p.His271=)
c.*139T= (n.*139T=)
c.468T= (p.His156=)
c.435T= (p.His145=)
18g.3457548dupCA645599949TGIF1c.367dup (p.Ser123PhefsTer17)
c.427dup (p.Ser143PhefsTer17)
c.814dup (p.Ser272PhefsTer17)
c.367dup (p.Ser123PhefsTer?)
c.*140dup (n.*140dup)
c.469dup (p.Ser157PhefsTer17)
c.436dup (p.Ser146PhefsTer17)
COSMIC COSMIC
18g.3457548T>ACA401723505TGIF1c.367T>A (p.Ser123Thr)
c.427T>A (p.Ser143Thr)
c.814T>A (p.Ser272Thr)
c.*140T>A (n.*140T>A)
c.469T>A (p.Ser157Thr)
c.436T>A (p.Ser146Thr)
18g.3457548T>CCA401723506TGIF1c.367T>C (p.Ser123Pro)
c.427T>C (p.Ser143Pro)
c.814T>C (p.Ser272Pro)
c.*140T>C (n.*140T>C)
c.469T>C (p.Ser157Pro)
c.436T>C (p.Ser146Pro)
18g.3457548T>GCA401723507TGIF1c.367T>G (p.Ser123Ala)
c.427T>G (p.Ser143Ala)
c.814T>G (p.Ser272Ala)
c.*140T>G (n.*140T>G)
c.469T>G (p.Ser157Ala)
c.436T>G (p.Ser146Ala)
18g.3457549C>ACA401723508TGIF1c.368C>A (p.Ser123Tyr)
c.428C>A (p.Ser143Tyr)
c.815C>A (p.Ser272Tyr)
c.*141C>A (n.*141C>A)
c.470C>A (p.Ser157Tyr)
c.437C>A (p.Ser146Tyr)
COSMIC
18g.3457549C>GCA401723510TGIF1c.368C>G (p.Ser123Cys)
c.428C>G (p.Ser143Cys)
c.815C>G (p.Ser272Cys)
c.*141C>G (n.*141C>G)
c.470C>G (p.Ser157Cys)
c.437C>G (p.Ser146Cys)
18g.3457549C>TCA401723509TGIF1c.368C>T (p.Ser123Phe)
c.428C>T (p.Ser143Phe)
c.815C>T (p.Ser272Phe)
c.*141C>T (n.*141C>T)
c.470C>T (p.Ser157Phe)
c.437C>T (p.Ser146Phe)
18g.3457550C>ACA502810502TGIF1c.369C>A (p.Ser123=)
c.429C>A (p.Ser143=)
c.816C>A (p.Ser272=)
c.*142C>A (n.*142C>A)
c.471C>A (p.Ser157=)
c.438C>A (p.Ser146=)
18g.3457550C>GCA502810503TGIF1c.369C>G (p.Ser123=)
c.429C>G (p.Ser143=)
c.816C>G (p.Ser272=)
c.*142C>G (n.*142C>G)
c.471C>G (p.Ser157=)
c.438C>G (p.Ser146=)
18g.3457550C>TCA502810504TGIF1c.369C>T (p.Ser123=)
c.429C>T (p.Ser143=)
c.816C>T (p.Ser272=)
c.*142C>T (n.*142C>T)
c.471C>T (p.Ser157=)
c.438C>T (p.Ser146=)
18g.3457551T>ACA401723511TGIF1c.370T>A (p.Cys124Ser)
c.430T>A (p.Cys144Ser)
c.817T>A (p.Cys273Ser)
c.*143T>A (n.*143T>A)
c.472T>A (p.Cys158Ser)
c.439T>A (p.Cys147Ser)
18g.3457551T>CCA401723512TGIF1c.370T>C (p.Cys124Arg)
c.430T>C (p.Cys144Arg)
c.817T>C (p.Cys273Arg)
c.*143T>C (n.*143T>C)
c.472T>C (p.Cys158Arg)
c.439T>C (p.Cys147Arg)
18g.3457551T>GCA401723513TGIF1c.370T>G (p.Cys124Gly)
c.430T>G (p.Cys144Gly)
c.817T>G (p.Cys273Gly)
c.*143T>G (n.*143T>G)
c.472T>G (p.Cys158Gly)
c.439T>G (p.Cys147Gly)
gnomAD v4
18g.3457552G>ACA401723514TGIF1c.371G>A (p.Cys124Tyr)
c.431G>A (p.Cys144Tyr)
c.818G>A (p.Cys273Tyr)
c.*144G>A (n.*144G>A)
c.473G>A (p.Cys158Tyr)
c.440G>A (p.Cys147Tyr)
18g.3457552G>CCA401723515TGIF1c.371G>C (p.Cys124Ser)
c.431G>C (p.Cys144Ser)
c.818G>C (p.Cys273Ser)
c.*144G>C (n.*144G>C)
c.473G>C (p.Cys158Ser)
c.440G>C (p.Cys147Ser)
18g.3457552G>TCA401723516TGIF1c.371G>T (p.Cys124Phe)
c.431G>T (p.Cys144Phe)
c.818G>T (p.Cys273Phe)
c.*144G>T (n.*144G>T)
c.473G>T (p.Cys158Phe)
c.440G>T (p.Cys147Phe)
gnomAD v4
18g.3457553T>ACA401723517TGIF1c.372T>A (p.Cys124Ter)
c.432T>A (p.Cys144Ter)
c.819T>A (p.Cys273Ter)
c.*145T>A (n.*145T>A)
c.474T>A (p.Cys158Ter)
c.441T>A (p.Cys147Ter)
18g.3457553T>CCA8875953TGIF1c.372T>C (p.Cys124=)
c.432T>C (p.Cys144=)
c.819T>C (p.Cys273=)
c.*145T>C (n.*145T>C)
c.474T>C (p.Cys158=)
c.441T>C (p.Cys147=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457553T>GCA401723518TGIF1c.372T>G (p.Cys124Trp)
c.432T>G (p.Cys144Trp)
c.819T>G (p.Cys273Trp)
c.*145T>G (n.*145T>G)
c.474T>G (p.Cys158Trp)
c.441T>G (p.Cys147Trp)
18g.3457553T=CA2281035566TGIF1c.372T= (p.Cys124=)
c.432T= (p.Cys144=)
c.819T= (p.Cys273=)
c.*145T= (n.*145T=)
c.474T= (p.Cys158=)
c.441T= (p.Cys147=)
18g.3457554A=CA2281035567TGIF1c.373A= (p.Thr125=)
c.433A= (p.Thr145=)
c.820A= (p.Thr274=)
c.*146A= (n.*146A=)
c.475A= (p.Thr159=)
c.442A= (p.Thr148=)
18g.3457554A>CCA401723521TGIF1c.373A>C (p.Thr125Pro)
c.433A>C (p.Thr145Pro)
c.820A>C (p.Thr274Pro)
c.*146A>C (n.*146A>C)
c.475A>C (p.Thr159Pro)
c.442A>C (p.Thr148Pro)
18g.3457554A>GCA401723520TGIF1c.373A>G (p.Thr125Ala)
c.433A>G (p.Thr145Ala)
c.820A>G (p.Thr274Ala)
c.*146A>G (n.*146A>G)
c.475A>G (p.Thr159Ala)
c.442A>G (p.Thr148Ala)
dbSNP gnomAD v2 gnomAD v4
18g.3457554A>TCA401723519TGIF1c.373A>T (p.Thr125Ser)
c.433A>T (p.Thr145Ser)
c.820A>T (p.Thr274Ser)
c.*146A>T (n.*146A>T)
c.475A>T (p.Thr159Ser)
c.442A>T (p.Thr148Ser)
18g.3457555C>ACA401723522TGIF1c.374C>A (p.Thr125Lys)
c.434C>A (p.Thr145Lys)
c.821C>A (p.Thr274Lys)
c.*147C>A (n.*147C>A)
c.476C>A (p.Thr159Lys)
c.443C>A (p.Thr148Lys)
18g.3457555C>GCA401723523TGIF1c.374C>G (p.Thr125Arg)
c.434C>G (p.Thr145Arg)
c.821C>G (p.Thr274Arg)
c.*147C>G (n.*147C>G)
c.476C>G (p.Thr159Arg)
c.443C>G (p.Thr148Arg)
18g.3457555C>TCA401723524TGIF1c.374C>T (p.Thr125Ile)
c.434C>T (p.Thr145Ile)
c.821C>T (p.Thr274Ile)
c.*147C>T (n.*147C>T)
c.476C>T (p.Thr159Ile)
c.443C>T (p.Thr148Ile)
18g.3457556A>CCA502810509TGIF1c.375A>C (p.Thr125=)
c.435A>C (p.Thr145=)
c.822A>C (p.Thr274=)
c.*148A>C (n.*148A>C)
c.477A>C (p.Thr159=)
c.444A>C (p.Thr148=)
18g.3457556A>GCA502810510TGIF1c.375A>G (p.Thr125=)
c.435A>G (p.Thr145=)
c.822A>G (p.Thr274=)
c.*148A>G (n.*148A>G)
c.477A>G (p.Thr159=)
c.444A>G (p.Thr148=)
dbSNP gnomAD v4
18g.3457556A>TCA502810511TGIF1c.375A>T (p.Thr125=)
c.435A>T (p.Thr145=)
c.822A>T (p.Thr274=)
c.*148A>T (n.*148A>T)
c.477A>T (p.Thr159=)
c.444A>T (p.Thr148=)
18g.3457557G>ACA401723525TGIF1c.376G>A (p.Ala126Thr)
c.436G>A (p.Ala146Thr)
c.823G>A (p.Ala275Thr)
c.*149G>A (n.*149G>A)
c.478G>A (p.Ala160Thr)
c.445G>A (p.Ala149Thr)
dbSNP gnomAD v2 gnomAD v4
18g.3457557G>CCA401723526TGIF1c.376G>C (p.Ala126Pro)
c.436G>C (p.Ala146Pro)
c.823G>C (p.Ala275Pro)
c.*149G>C (n.*149G>C)
c.478G>C (p.Ala160Pro)
c.445G>C (p.Ala149Pro)
dbSNP gnomAD v2 gnomAD v4
18g.3457557G=CA2281035568TGIF1c.376G= (p.Ala126=)
c.436G= (p.Ala146=)
c.823G= (p.Ala275=)
c.*149G= (n.*149G=)
c.478G= (p.Ala160=)
c.445G= (p.Ala149=)
18g.3457557G>TCA295567152TGIF1c.376G>T (p.Ala126Ser)
c.436G>T (p.Ala146Ser)
c.823G>T (p.Ala275Ser)
c.*149G>T (n.*149G>T)
c.478G>T (p.Ala160Ser)
c.445G>T (p.Ala149Ser)
dbSNP gnomAD v2 gnomAD v4
18g.3457558C>ACA401723527TGIF1c.377C>A (p.Ala126Asp)
c.437C>A (p.Ala146Asp)
c.824C>A (p.Ala275Asp)
c.*150C>A (n.*150C>A)
c.479C>A (p.Ala160Asp)
c.446C>A (p.Ala149Asp)
18g.3457558C>GCA401723528TGIF1c.377C>G (p.Ala126Gly)
c.437C>G (p.Ala146Gly)
c.824C>G (p.Ala275Gly)
c.*150C>G (n.*150C>G)
c.479C>G (p.Ala160Gly)
c.446C>G (p.Ala149Gly)
gnomAD v4
18g.3457558C>TCA401723529TGIF1c.377C>T (p.Ala126Val)
c.437C>T (p.Ala146Val)
c.824C>T (p.Ala275Val)
c.*150C>T (n.*150C>T)
c.479C>T (p.Ala160Val)
c.446C>T (p.Ala149Val)
18g.3457559T>ACA502810513TGIF1c.378T>A (p.Ala126=)
c.438T>A (p.Ala146=)
c.825T>A (p.Ala275=)
c.*151T>A (n.*151T>A)
c.480T>A (p.Ala160=)
c.447T>A (p.Ala149=)
18g.3457559T>CCA502810514TGIF1c.378T>C (p.Ala126=)
c.438T>C (p.Ala146=)
c.825T>C (p.Ala275=)
c.*151T>C (n.*151T>C)
c.480T>C (p.Ala160=)
c.447T>C (p.Ala149=)
18g.3457559T>GCA502810515TGIF1c.378T>G (p.Ala126=)
c.438T>G (p.Ala146=)
c.825T>G (p.Ala275=)
c.*151T>G (n.*151T>G)
c.480T>G (p.Ala160=)
c.447T>G (p.Ala149=)
18g.3457560G>ACA401723530TGIF1c.379G>A (p.Gly127Arg)
c.439G>A (p.Gly147Arg)
c.826G>A (p.Gly276Arg)
c.*152G>A (n.*152G>A)
c.481G>A (p.Gly161Arg)
c.448G>A (p.Gly150Arg)
18g.3457560G>CCA401723531TGIF1c.379G>C (p.Gly127Arg)
c.439G>C (p.Gly147Arg)
c.826G>C (p.Gly276Arg)
c.*152G>C (n.*152G>C)
c.481G>C (p.Gly161Arg)
c.448G>C (p.Gly150Arg)
18g.3457560G=CA2281035569TGIF1c.379G= (p.Gly127=)
c.439G= (p.Gly147=)
c.826G= (p.Gly276=)
c.*152G= (n.*152G=)
c.481G= (p.Gly161=)
c.448G= (p.Gly150=)
18g.3457560G>TCA401723532TGIF1c.379G>T (p.Gly127Trp)
c.439G>T (p.Gly147Trp)
c.826G>T (p.Gly276Trp)
c.*152G>T (n.*152G>T)
c.481G>T (p.Gly161Trp)
c.448G>T (p.Gly150Trp)
dbSNP
18g.3457561G>ACA401723535TGIF1c.380G>A (p.Gly127Glu)
c.440G>A (p.Gly147Glu)
c.827G>A (p.Gly276Glu)
c.*153G>A (n.*153G>A)
c.482G>A (p.Gly161Glu)
c.449G>A (p.Gly150Glu)
gnomAD v4
18g.3457561G>CCA401723533TGIF1c.380G>C (p.Gly127Ala)
c.440G>C (p.Gly147Ala)
c.827G>C (p.Gly276Ala)
c.*153G>C (n.*153G>C)
c.482G>C (p.Gly161Ala)
c.449G>C (p.Gly150Ala)
18g.3457561G>TCA401723534TGIF1c.380G>T (p.Gly127Val)
c.440G>T (p.Gly147Val)
c.827G>T (p.Gly276Val)
c.*153G>T (n.*153G>T)
c.482G>T (p.Gly161Val)
c.449G>T (p.Gly150Val)
18g.3457562G>ACA502810519TGIF1c.381G>A (p.Gly127=)
c.441G>A (p.Gly147=)
c.828G>A (p.Gly276=)
c.*154G>A (n.*154G>A)
c.483G>A (p.Gly161=)
c.450G>A (p.Gly150=)
18g.3457562G>CCA502810520TGIF1c.381G>C (p.Gly127=)
c.441G>C (p.Gly147=)
c.828G>C (p.Gly276=)
c.*154G>C (n.*154G>C)
c.483G>C (p.Gly161=)
c.450G>C (p.Gly150=)
18g.3457562G>TCA502810521TGIF1c.381G>T (p.Gly127=)
c.441G>T (p.Gly147=)
c.828G>T (p.Gly276=)
c.*154G>T (n.*154G>T)
c.483G>T (p.Gly161=)
c.450G>T (p.Gly150=)
gnomAD v4
18g.3457563C>ACA401723536TGIF1c.382C>A (p.Pro128Thr)
c.442C>A (p.Pro148Thr)
c.829C>A (p.Pro277Thr)
c.*155C>A (n.*155C>A)
c.484C>A (p.Pro162Thr)
c.451C>A (p.Pro151Thr)
18g.3457563C>GCA401723537TGIF1c.382C>G (p.Pro128Ala)
c.442C>G (p.Pro148Ala)
c.829C>G (p.Pro277Ala)
c.*155C>G (n.*155C>G)
c.484C>G (p.Pro162Ala)
c.451C>G (p.Pro151Ala)
18g.3457563C>TCA401723538TGIF1c.382C>T (p.Pro128Ser)
c.442C>T (p.Pro148Ser)
c.829C>T (p.Pro277Ser)
c.*155C>T (n.*155C>T)
c.484C>T (p.Pro162Ser)
c.451C>T (p.Pro151Ser)
18g.3457564C>ACA401723539TGIF1c.383C>A (p.Pro128Gln)
c.443C>A (p.Pro148Gln)
c.830C>A (p.Pro277Gln)
c.*156C>A (n.*156C>A)
c.485C>A (p.Pro162Gln)
c.452C>A (p.Pro151Gln)
18g.3457564C=CA2281035570TGIF1c.383C= (p.Pro128=)
c.443C= (p.Pro148=)
c.830C= (p.Pro277=)
c.*156C= (n.*156C=)
c.485C= (p.Pro162=)
c.452C= (p.Pro151=)
18g.3457564C>GCA8875954TGIF1c.383C>G (p.Pro128Arg)
c.443C>G (p.Pro148Arg)
c.830C>G (p.Pro277Arg)
c.*156C>G (n.*156C>G)
c.485C>G (p.Pro162Arg)
c.452C>G (p.Pro151Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457564C>TCA401723540TGIF1c.383C>T (p.Pro128Leu)
c.443C>T (p.Pro148Leu)
c.830C>T (p.Pro277Leu)
c.*156C>T (n.*156C>T)
c.485C>T (p.Pro162Leu)
c.452C>T (p.Pro151Leu)
18g.3457565A>CCA502810525TGIF1c.384A>C (p.Pro128=)
c.444A>C (p.Pro148=)
c.831A>C (p.Pro277=)
c.*157A>C (n.*157A>C)
c.486A>C (p.Pro162=)
c.453A>C (p.Pro151=)
18g.3457565A>GCA502810526TGIF1c.384A>G (p.Pro128=)
c.444A>G (p.Pro148=)
c.831A>G (p.Pro277=)
c.*157A>G (n.*157A>G)
c.486A>G (p.Pro162=)
c.453A>G (p.Pro151=)
18g.3457565A>TCA502810527TGIF1c.384A>T (p.Pro128=)
c.444A>T (p.Pro148=)
c.831A>T (p.Pro277=)
c.*157A>T (n.*157A>T)
c.486A>T (p.Pro162=)
c.453A>T (p.Pro151=)
18g.3457566A=CA2281035571TGIF1c.385A= (p.Asn129=)
c.445A= (p.Asn149=)
c.832A= (p.Asn278=)
c.*158A= (n.*158A=)
c.487A= (p.Asn163=)
c.454A= (p.Asn152=)
18g.3457566A>CCA401723541TGIF1c.385A>C (p.Asn129His)
c.445A>C (p.Asn149His)
c.832A>C (p.Asn278His)
c.*158A>C (n.*158A>C)
c.487A>C (p.Asn163His)
c.454A>C (p.Asn152His)
18g.3457566A>GCA8875956TGIF1c.385A>G (p.Asn129Asp)
c.445A>G (p.Asn149Asp)
c.832A>G (p.Asn278Asp)
c.*158A>G (n.*158A>G)
c.487A>G (p.Asn163Asp)
c.454A>G (p.Asn152Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457566A>TCA8875955TGIF1c.385A>T (p.Asn129Tyr)
c.445A>T (p.Asn149Tyr)
c.832A>T (p.Asn278Tyr)
c.*158A>T (n.*158A>T)
c.487A>T (p.Asn163Tyr)
c.454A>T (p.Asn152Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457567A>CCA401723542TGIF1c.386A>C (p.Asn129Thr)
c.446A>C (p.Asn149Thr)
c.833A>C (p.Asn278Thr)
c.*159A>C (n.*159A>C)
c.488A>C (p.Asn163Thr)
c.455A>C (p.Asn152Thr)
18g.3457567A>GCA401723543TGIF1c.386A>G (p.Asn129Ser)
c.446A>G (p.Asn149Ser)
c.833A>G (p.Asn278Ser)
c.*159A>G (n.*159A>G)
c.488A>G (p.Asn163Ser)
c.455A>G (p.Asn152Ser)
18g.3457567A>TCA401723544TGIF1c.386A>T (p.Asn129Ile)
c.446A>T (p.Asn149Ile)
c.833A>T (p.Asn278Ile)
c.*159A>T (n.*159A>T)
c.488A>T (p.Asn163Ile)
c.455A>T (p.Asn152Ile)
18g.3457568C>ACA401723545TGIF1c.387C>A (p.Asn129Lys)
c.447C>A (p.Asn149Lys)
c.834C>A (p.Asn278Lys)
c.*160C>A (n.*160C>A)
c.489C>A (p.Asn163Lys)
c.456C>A (p.Asn152Lys)
18g.3457568C=CA2281035572TGIF1c.387C= (p.Asn129=)
c.447C= (p.Asn149=)
c.834C= (p.Asn278=)
c.*160C= (n.*160C=)
c.489C= (p.Asn163=)
c.456C= (p.Asn152=)
18g.3457568C>GCA401723546TGIF1c.387C>G (p.Asn129Lys)
c.447C>G (p.Asn149Lys)
c.834C>G (p.Asn278Lys)
c.*160C>G (n.*160C>G)
c.489C>G (p.Asn163Lys)
c.456C>G (p.Asn152Lys)
18g.3457568C>TCA8875957TGIF1c.387C>T (p.Asn129=)
c.447C>T (p.Asn149=)
c.834C>T (p.Asn278=)
c.*160C>T (n.*160C>T)
c.489C>T (p.Asn163=)
c.456C>T (p.Asn152=)
dbSNP ExAC gnomAD v2
18g.3457569C>ACA401723548TGIF1c.388C>A (p.Pro130Thr)
c.448C>A (p.Pro150Thr)
c.835C>A (p.Pro279Thr)
c.*161C>A (n.*161C>A)
c.490C>A (p.Pro164Thr)
c.457C>A (p.Pro153Thr)
18g.3457569C>GCA401723547TGIF1c.388C>G (p.Pro130Ala)
c.448C>G (p.Pro150Ala)
c.835C>G (p.Pro279Ala)
c.*161C>G (n.*161C>G)
c.490C>G (p.Pro164Ala)
c.457C>G (p.Pro153Ala)
18g.3457569C>TCA401723549TGIF1c.388C>T (p.Pro130Ser)
c.448C>T (p.Pro150Ser)
c.835C>T (p.Pro279Ser)
c.*161C>T (n.*161C>T)
c.490C>T (p.Pro164Ser)
c.457C>T (p.Pro153Ser)
18g.3457570C>ACA401723550TGIF1c.389C>A (p.Pro130Gln)
c.449C>A (p.Pro150Gln)
c.836C>A (p.Pro279Gln)
c.*162C>A (n.*162C>A)
c.491C>A (p.Pro164Gln)
c.458C>A (p.Pro153Gln)
18g.3457570C=CA2281035573TGIF1c.389C= (p.Pro130=)
c.449C= (p.Pro150=)
c.836C= (p.Pro279=)
c.*162C= (n.*162C=)
c.491C= (p.Pro164=)
c.458C= (p.Pro153=)
18g.3457570C>GCA401723551TGIF1c.389C>G (p.Pro130Arg)
c.449C>G (p.Pro150Arg)
c.836C>G (p.Pro279Arg)
c.*162C>G (n.*162C>G)
c.491C>G (p.Pro164Arg)
c.458C>G (p.Pro153Arg)
18g.3457570C>TCA401723552TGIF1c.389C>T (p.Pro130Leu)
c.449C>T (p.Pro150Leu)
c.836C>T (p.Pro279Leu)
c.*162C>T (n.*162C>T)
c.491C>T (p.Pro164Leu)
c.458C>T (p.Pro153Leu)
dbSNP
18g.3457571A>CCA502810529TGIF1c.390A>C (p.Pro130=)
c.450A>C (p.Pro150=)
c.837A>C (p.Pro279=)
c.*163A>C (n.*163A>C)
c.492A>C (p.Pro164=)
c.459A>C (p.Pro153=)
18g.3457571A>GCA502810530TGIF1c.390A>G (p.Pro130=)
c.450A>G (p.Pro150=)
c.837A>G (p.Pro279=)
c.*163A>G (n.*163A>G)
c.492A>G (p.Pro164=)
c.459A>G (p.Pro153=)
18g.3457571A>TCA502810531TGIF1c.390A>T (p.Pro130=)
c.450A>T (p.Pro150=)
c.837A>T (p.Pro279=)
c.*163A>T (n.*163A>T)
c.492A>T (p.Pro164=)
c.459A>T (p.Pro153=)
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)
ClinVar 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=)
18g.3457586A>CCA502810557TGIF1c.405A>C (p.Pro135=)
c.465A>C (p.Pro155=)
c.852A>C (p.Pro284=)
c.*178A>C (n.*178A>C)
c.507A>C (p.Pro169=)
c.474A>C (p.Pro158=)
18g.3457586A>GCA502810559TGIF1c.405A>G (p.Pro135=)
c.465A>G (p.Pro155=)
c.852A>G (p.Pro284=)
c.*178A>G (n.*178A>G)
c.507A>G (p.Pro169=)
c.474A>G (p.Pro158=)
ClinVar dbSNP gnomAD v3 gnomAD v4
18g.3457586A>TCA502810560TGIF1c.405A>T (p.Pro135=)
c.465A>T (p.Pro155=)
c.852A>T (p.Pro284=)
c.*178A>T (n.*178A>T)
c.507A>T (p.Pro169=)
c.474A>T (p.Pro158=)
18g.3457587C>ACA401723582TGIF1c.406C>A (p.Leu136Met)
c.466C>A (p.Leu156Met)
c.853C>A (p.Leu285Met)
c.*179C>A (n.*179C>A)
c.508C>A (p.Leu170Met)
c.475C>A (p.Leu159Met)
18g.3457587C>GCA401723583TGIF1c.406C>G (p.Leu136Val)
c.466C>G (p.Leu156Val)
c.853C>G (p.Leu285Val)
c.*179C>G (n.*179C>G)
c.508C>G (p.Leu170Val)
c.475C>G (p.Leu159Val)
18g.3457587C>TCA502810561TGIF1c.406C>T (p.Leu136=)
c.466C>T (p.Leu156=)
c.853C>T (p.Leu285=)
c.*179C>T (n.*179C>T)
c.508C>T (p.Leu170=)
c.475C>T (p.Leu159=)
18g.3457588T>ACA401723584TGIF1c.407T>A (p.Leu136Gln)
c.467T>A (p.Leu156Gln)
c.854T>A (p.Leu285Gln)
c.*180T>A (n.*180T>A)
c.509T>A (p.Leu170Gln)
c.476T>A (p.Leu159Gln)
18g.3457588T>CCA401723585TGIF1c.407T>C (p.Leu136Pro)
c.467T>C (p.Leu156Pro)
c.854T>C (p.Leu285Pro)
c.*180T>C (n.*180T>C)
c.509T>C (p.Leu170Pro)
c.476T>C (p.Leu159Pro)
dbSNP
18g.3457588T>GCA401723586TGIF1c.407T>G (p.Leu136Arg)
c.467T>G (p.Leu156Arg)
c.854T>G (p.Leu285Arg)
c.*180T>G (n.*180T>G)
c.509T>G (p.Leu170Arg)
c.476T>G (p.Leu159Arg)
18g.3457588T=CA2281035581TGIF1c.407T= (p.Leu136=)
c.467T= (p.Leu156=)
c.854T= (p.Leu285=)
c.*180T= (n.*180T=)
c.509T= (p.Leu170=)
c.476T= (p.Leu159=)
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)

Number of alleles fetched