Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.3457389C>ACA401723155TGIF1c.208C>A (p.Arg70Ser)
c.268C>A (p.Arg90Ser)
c.655C>A (p.Arg219Ser)
c.244-8C>A (n.244-8C>A)
c.310C>A (p.Arg104Ser)
c.277C>A (p.Arg93Ser)
COSMIC COSMIC
18g.3457389C=CA2281035505TGIF1c.208C= (p.Arg70=)
c.268C= (p.Arg90=)
c.655C= (p.Arg219=)
c.244-8C= (n.244-8C=)
c.310C= (p.Arg104=)
c.277C= (p.Arg93=)
18g.3457389C>GCA401723156TGIF1c.208C>G (p.Arg70Gly)
c.268C>G (p.Arg90Gly)
c.655C>G (p.Arg219Gly)
c.244-8C>G (n.244-8C>G)
c.310C>G (p.Arg104Gly)
c.277C>G (p.Arg93Gly)
18g.3457389C>TCA401723157TGIF1c.208C>T (p.Arg70Cys)
c.268C>T (p.Arg90Cys)
c.655C>T (p.Arg219Cys)
c.244-8C>T (n.244-8C>T)
c.310C>T (p.Arg104Cys)
c.277C>T (p.Arg93Cys)
ClinVar dbSNP gnomAD v4
18g.3457390G>ACA16043061TGIF1c.209G>A (p.Arg70His)
c.269G>A (p.Arg90His)
c.656G>A (p.Arg219His)
c.244-7G>A (n.244-7G>A)
c.311G>A (p.Arg104His)
c.278G>A (p.Arg93His)
ClinVar dbSNP gnomAD v4
18g.3457390G>CCA401723159TGIF1c.209G>C (p.Arg70Pro)
c.269G>C (p.Arg90Pro)
c.656G>C (p.Arg219Pro)
c.244-7G>C (n.244-7G>C)
c.311G>C (p.Arg104Pro)
c.278G>C (p.Arg93Pro)
18g.3457390G=CA2281035506TGIF1c.209G= (p.Arg70=)
c.269G= (p.Arg90=)
c.656G= (p.Arg219=)
c.244-7G= (n.244-7G=)
c.311G= (p.Arg104=)
c.278G= (p.Arg93=)
18g.3457390G>TCA401723158TGIF1c.209G>T (p.Arg70Leu)
c.269G>T (p.Arg90Leu)
c.656G>T (p.Arg219Leu)
c.244-7G>T (n.244-7G>T)
c.311G>T (p.Arg104Leu)
c.278G>T (p.Arg93Leu)
18g.3457391C>ACA502810334TGIF1c.210C>A (p.Arg70=)
c.270C>A (p.Arg90=)
c.657C>A (p.Arg219=)
c.244-6C>A (n.244-6C>A)
c.312C>A (p.Arg104=)
c.279C>A (p.Arg93=)
18g.3457391C=CA2281035507TGIF1c.210C= (p.Arg70=)
c.270C= (p.Arg90=)
c.657C= (p.Arg219=)
c.244-6C= (n.244-6C=)
c.312C= (p.Arg104=)
c.279C= (p.Arg93=)
18g.3457391C>GCA502810336TGIF1c.210C>G (p.Arg70=)
c.270C>G (p.Arg90=)
c.657C>G (p.Arg219=)
c.244-6C>G (n.244-6C>G)
c.312C>G (p.Arg104=)
c.279C>G (p.Arg93=)
18g.3457391C>TCA502810337TGIF1c.210C>T (p.Arg70=)
c.270C>T (p.Arg90=)
c.657C>T (p.Arg219=)
c.244-6C>T (n.244-6C>T)
c.312C>T (p.Arg104=)
c.279C>T (p.Arg93=)
dbSNP gnomAD v4
18g.3457392C>ACA401723160TGIF1c.211C>A (p.Arg71Ser)
c.271C>A (p.Arg91Ser)
c.658C>A (p.Arg220Ser)
c.244-5C>A (n.244-5C>A)
c.313C>A (p.Arg105Ser)
c.280C>A (p.Arg94Ser)
COSMIC COSMIC
18g.3457392C=CA2281035508TGIF1c.211C= (p.Arg71=)
c.271C= (p.Arg91=)
c.658C= (p.Arg220=)
c.244-5C= (n.244-5C=)
c.313C= (p.Arg105=)
c.280C= (p.Arg94=)
18g.3457392C>GCA401723161TGIF1c.211C>G (p.Arg71Gly)
c.271C>G (p.Arg91Gly)
c.658C>G (p.Arg220Gly)
c.244-5C>G (n.244-5C>G)
c.313C>G (p.Arg105Gly)
c.280C>G (p.Arg94Gly)
COSMIC COSMIC
18g.3457392C>TCA401723162TGIF1c.211C>T (p.Arg71Cys)
c.271C>T (p.Arg91Cys)
c.658C>T (p.Arg220Cys)
c.244-5C>T (n.244-5C>T)
c.313C>T (p.Arg105Cys)
c.280C>T (p.Arg94Cys)
ClinVar dbSNP gnomAD v2 gnomAD v4
18g.3457393G>ACA295566973TGIF1c.212G>A (p.Arg71His)
c.272G>A (p.Arg91His)
c.659G>A (p.Arg220His)
c.244-4G>A (n.244-4G>A)
c.314G>A (p.Arg105His)
c.281G>A (p.Arg94His)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.3457393G>CCA401723163TGIF1c.212G>C (p.Arg71Pro)
c.272G>C (p.Arg91Pro)
c.659G>C (p.Arg220Pro)
c.244-4G>C (n.244-4G>C)
c.314G>C (p.Arg105Pro)
c.281G>C (p.Arg94Pro)
18g.3457393G=CA2281035509TGIF1c.212G= (p.Arg71=)
c.272G= (p.Arg91=)
c.659G= (p.Arg220=)
c.244-4G= (n.244-4G=)
c.314G= (p.Arg105=)
c.281G= (p.Arg94=)
18g.3457393G>TCA401723164TGIF1c.212G>T (p.Arg71Leu)
c.272G>T (p.Arg91Leu)
c.659G>T (p.Arg220Leu)
c.244-4G>T (n.244-4G>T)
c.314G>T (p.Arg105Leu)
c.281G>T (p.Arg94Leu)
18g.3457394C>ACA502810338TGIF1c.213C>A (p.Arg71=)
c.273C>A (p.Arg91=)
c.660C>A (p.Arg220=)
c.244-3C>A (n.244-3C>A)
c.315C>A (p.Arg105=)
c.282C>A (p.Arg94=)
18g.3457394C>GCA502810340TGIF1c.213C>G (p.Arg71=)
c.273C>G (p.Arg91=)
c.660C>G (p.Arg220=)
c.244-3C>G (n.244-3C>G)
c.315C>G (p.Arg105=)
c.282C>G (p.Arg94=)
18g.3457394C>TCA502810342TGIF1c.213C>T (p.Arg71=)
c.273C>T (p.Arg91=)
c.660C>T (p.Arg220=)
c.244-3C>T (n.244-3C>T)
c.315C>T (p.Arg105=)
c.282C>T (p.Arg94=)
gnomAD v4
18g.3457395A>CCA401723165TGIF1c.214A>C (p.Arg72=)
c.274A>C (p.Arg92=)
c.661A>C (p.Arg221=)
c.244-2A>C (n.244-2A>C)
c.316A>C (p.Arg106=)
c.283A>C (p.Arg95=)
18g.3457395A>GCA401723166TGIF1c.214A>G (p.Arg72Gly)
c.274A>G (p.Arg92Gly)
c.661A>G (p.Arg221Gly)
c.244-2A>G (n.244-2A>G)
c.316A>G (p.Arg106Gly)
c.283A>G (p.Arg95Gly)
18g.3457395A>TCA401723167TGIF1c.214A>T (p.Arg72Trp)
c.274A>T (p.Arg92Trp)
c.661A>T (p.Arg221Trp)
c.244-2A>T (n.244-2A>T)
c.316A>T (p.Arg106Trp)
c.283A>T (p.Arg95Trp)
18g.3457396G>ACA401723168TGIF1c.215G>A (p.Arg72Lys)
c.275G>A (p.Arg92Lys)
c.662G>A (p.Arg221Lys)
c.244-1G>A (n.244-1G>A)
c.317G>A (p.Arg106Lys)
c.284G>A (p.Arg95Lys)
18g.3457396G>CCA401723169TGIF1c.215G>C (p.Arg72Thr)
c.275G>C (p.Arg92Thr)
c.662G>C (p.Arg221Thr)
c.244-1G>C (n.244-1G>C)
c.317G>C (p.Arg106Thr)
c.284G>C (p.Arg95Thr)
18g.3457396G>TCA401723170TGIF1c.215G>T (p.Arg72Met)
c.275G>T (p.Arg92Met)
c.662G>T (p.Arg221Met)
c.244-1G>T (n.244-1G>T)
c.317G>T (p.Arg106Met)
c.284G>T (p.Arg95Met)
18g.3457397G>ACA401723172TGIF1c.216G>A (p.Arg72=)
c.276G>A (p.Arg92=)
c.663G>A (p.Arg221=)
c.244G>A (p.Ala82Thr)
c.318G>A (p.Arg106=)
c.285G>A (p.Arg95=)
18g.3457397G>CCA401723173TGIF1c.216G>C (p.Arg72Ser)
c.276G>C (p.Arg92Ser)
c.663G>C (p.Arg221Ser)
c.244G>C (p.Ala82Pro)
c.318G>C (p.Arg106Ser)
c.285G>C (p.Arg95Ser)
18g.3457397G>TCA401723171TGIF1c.216G>T (p.Arg72Ser)
c.276G>T (p.Arg92Ser)
c.663G>T (p.Arg221Ser)
c.244G>T (p.Ala82Ser)
c.318G>T (p.Arg106Ser)
c.285G>T (p.Arg95Ser)
18g.3457398C>ACA401723174TGIF1c.217C>A (p.Leu73Ile)
c.277C>A (p.Leu93Ile)
c.664C>A (p.Leu222Ile)
c.245C>A (p.Ala82Asp)
c.319C>A (p.Leu107Ile)
c.286C>A (p.Leu96Ile)
18g.3457398C>GCA401723175TGIF1c.217C>G (p.Leu73Val)
c.277C>G (p.Leu93Val)
c.664C>G (p.Leu222Val)
c.245C>G (p.Ala82Gly)
c.319C>G (p.Leu107Val)
c.286C>G (p.Leu96Val)
dbSNP gnomAD v3 gnomAD v4
18g.3457398C>TCA401723176TGIF1c.217C>T (p.Leu73Phe)
c.277C>T (p.Leu93Phe)
c.664C>T (p.Leu222Phe)
c.245C>T (p.Ala82Val)
c.319C>T (p.Leu107Phe)
c.286C>T (p.Leu96Phe)
18g.3457399T>ACA401723177TGIF1c.218T>A (p.Leu73His)
c.278T>A (p.Leu93His)
c.665T>A (p.Leu222His)
c.246T>A (p.Ala82=)
c.320T>A (p.Leu107His)
c.287T>A (p.Leu96His)
18g.3457399T>CCA401723178TGIF1c.218T>C (p.Leu73Pro)
c.278T>C (p.Leu93Pro)
c.665T>C (p.Leu222Pro)
c.246T>C (p.Ala82=)
c.320T>C (p.Leu107Pro)
c.287T>C (p.Leu96Pro)
18g.3457399T>GCA401723179TGIF1c.218T>G (p.Leu73Arg)
c.278T>G (p.Leu93Arg)
c.665T>G (p.Leu222Arg)
c.246T>G (p.Ala82=)
c.320T>G (p.Leu107Arg)
c.287T>G (p.Leu96Arg)
18g.3457400C>ACA401723180TGIF1c.219C>A (p.Leu73=)
c.279C>A (p.Leu93=)
c.666C>A (p.Leu222=)
c.247C>A (p.Pro83Thr)
c.321C>A (p.Leu107=)
c.288C>A (p.Leu96=)
18g.3457400C=CA2281035510TGIF1c.219C= (p.Leu73=)
c.279C= (p.Leu93=)
c.666C= (p.Leu222=)
c.247C= (p.Pro83=)
c.321C= (p.Leu107=)
c.288C= (p.Leu96=)
18g.3457400C>GCA401723181TGIF1c.219C>G (p.Leu73=)
c.279C>G (p.Leu93=)
c.666C>G (p.Leu222=)
c.247C>G (p.Pro83Ala)
c.321C>G (p.Leu107=)
c.288C>G (p.Leu96=)
18g.3457400C>TCA8875923TGIF1c.219C>T (p.Leu73=)
c.279C>T (p.Leu93=)
c.666C>T (p.Leu222=)
c.247C>T (p.Pro83Ser)
c.321C>T (p.Leu107=)
c.288C>T (p.Leu96=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457401C>ACA401723182TGIF1c.220C>A (p.Leu74Ile)
c.280C>A (p.Leu94Ile)
c.667C>A (p.Leu223Ile)
c.248C>A (p.Pro83His)
c.322C>A (p.Leu108Ile)
c.289C>A (p.Leu97Ile)
18g.3457401C>GCA401723183TGIF1c.220C>G (p.Leu74Val)
c.280C>G (p.Leu94Val)
c.667C>G (p.Leu223Val)
c.248C>G (p.Pro83Arg)
c.322C>G (p.Leu108Val)
c.289C>G (p.Leu97Val)
18g.3457401C>TCA401723184TGIF1c.220C>T (p.Leu74Phe)
c.280C>T (p.Leu94Phe)
c.667C>T (p.Leu223Phe)
c.248C>T (p.Pro83Leu)
c.322C>T (p.Leu108Phe)
c.289C>T (p.Leu97Phe)
gnomAD v4
18g.3457402T>ACA401723186TGIF1c.221T>A (p.Leu74His)
c.281T>A (p.Leu94His)
c.668T>A (p.Leu223His)
c.249T>A (p.Pro83=)
c.323T>A (p.Leu108His)
c.290T>A (p.Leu97His)
18g.3457402T>CCA401723187TGIF1c.221T>C (p.Leu74Pro)
c.281T>C (p.Leu94Pro)
c.668T>C (p.Leu223Pro)
c.249T>C (p.Pro83=)
c.323T>C (p.Leu108Pro)
c.290T>C (p.Leu97Pro)
18g.3457402T>GCA401723185TGIF1c.221T>G (p.Leu74Arg)
c.281T>G (p.Leu94Arg)
c.668T>G (p.Leu223Arg)
c.249T>G (p.Pro83=)
c.323T>G (p.Leu108Arg)
c.290T>G (p.Leu97Arg)
18g.3457403C>ACA401723188TGIF1c.222C>A (p.Leu74=)
c.282C>A (p.Leu94=)
c.669C>A (p.Leu223=)
c.250C>A (p.Pro84Thr)
c.324C>A (p.Leu108=)
c.291C>A (p.Leu97=)
18g.3457403C>GCA401723189TGIF1c.222C>G (p.Leu74=)
c.282C>G (p.Leu94=)
c.669C>G (p.Leu223=)
c.250C>G (p.Pro84Ala)
c.324C>G (p.Leu108=)
c.291C>G (p.Leu97=)
18g.3457403C>TCA401723190TGIF1c.222C>T (p.Leu74=)
c.282C>T (p.Leu94=)
c.669C>T (p.Leu223=)
c.250C>T (p.Pro84Ser)
c.324C>T (p.Leu108=)
c.291C>T (p.Leu97=)
18g.3457404C>ACA401723191TGIF1c.223C>A (p.Pro75Thr)
c.283C>A (p.Pro95Thr)
c.670C>A (p.Pro224Thr)
c.251C>A (p.Pro84His)
c.325C>A (p.Pro109Thr)
c.292C>A (p.Pro98Thr)
18g.3457404C>GCA401723192TGIF1c.223C>G (p.Pro75Ala)
c.283C>G (p.Pro95Ala)
c.670C>G (p.Pro224Ala)
c.251C>G (p.Pro84Arg)
c.325C>G (p.Pro109Ala)
c.292C>G (p.Pro98Ala)
18g.3457404C>TCA401723193TGIF1c.223C>T (p.Pro75Ser)
c.283C>T (p.Pro95Ser)
c.670C>T (p.Pro224Ser)
c.251C>T (p.Pro84Leu)
c.325C>T (p.Pro109Ser)
c.292C>T (p.Pro98Ser)
18g.3457405C>ACA401723196TGIF1c.224C>A (p.Pro75His)
c.284C>A (p.Pro95His)
c.671C>A (p.Pro224His)
c.252C>A (p.Pro84=)
c.326C>A (p.Pro109His)
c.293C>A (p.Pro98His)
18g.3457405C>GCA401723194TGIF1c.224C>G (p.Pro75Arg)
c.284C>G (p.Pro95Arg)
c.671C>G (p.Pro224Arg)
c.252C>G (p.Pro84=)
c.326C>G (p.Pro109Arg)
c.293C>G (p.Pro98Arg)
18g.3457405C>TCA401723195TGIF1c.224C>T (p.Pro75Leu)
c.284C>T (p.Pro95Leu)
c.671C>T (p.Pro224Leu)
c.252C>T (p.Pro84=)
c.326C>T (p.Pro109Leu)
c.293C>T (p.Pro98Leu)
18g.3457406T>ACA401723197TGIF1c.225T>A (p.Pro75=)
c.285T>A (p.Pro95=)
c.672T>A (p.Pro224=)
c.253T>A (p.Ter85Arg)
c.327T>A (p.Pro109=)
c.294T>A (p.Pro98=)
18g.3457406T>CCA401723198TGIF1c.225T>C (p.Pro75=)
c.285T>C (p.Pro95=)
c.672T>C (p.Pro224=)
c.253T>C (p.Ter85Arg)
c.327T>C (p.Pro109=)
c.294T>C (p.Pro98=)
18g.3457406T>GCA401723199TGIF1c.225T>G (p.Pro75=)
c.285T>G (p.Pro95=)
c.672T>G (p.Pro224=)
c.253T>G (p.Ter85Gly)
c.327T>G (p.Pro109=)
c.294T>G (p.Pro98=)
18g.3457407G>ACA8875924TGIF1c.226G>A (p.Asp76Asn)
c.286G>A (p.Asp96Asn)
c.673G>A (p.Asp225Asn)
c.254G>A (p.Ter85=)
c.328G>A (p.Asp110Asn)
c.295G>A (p.Asp99Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457407G>CCA401723200TGIF1c.226G>C (p.Asp76His)
c.286G>C (p.Asp96His)
c.673G>C (p.Asp225His)
c.254G>C (p.Ter85Ser)
c.328G>C (p.Asp110His)
c.295G>C (p.Asp99His)
gnomAD v4
18g.3457407G=CA2281035511TGIF1c.226G= (p.Asp76=)
c.286G= (p.Asp96=)
c.673G= (p.Asp225=)
c.254G= (p.Ter85=)
c.328G= (p.Asp110=)
c.295G= (p.Asp99=)
18g.3457407G>TCA401723201TGIF1c.226G>T (p.Asp76Tyr)
c.286G>T (p.Asp96Tyr)
c.673G>T (p.Asp225Tyr)
c.254G>T (p.Ter85Leu)
c.328G>T (p.Asp110Tyr)
c.295G>T (p.Asp99Tyr)
18g.3457408A>CCA401723203TGIF1c.227A>C (p.Asp76Ala)
c.287A>C (p.Asp96Ala)
c.674A>C (p.Asp225Ala)
c.255A>C (p.Ter85Cys)
c.329A>C (p.Asp110Ala)
c.296A>C (p.Asp99Ala)
18g.3457408A>GCA401723204TGIF1c.227A>G (p.Asp76Gly)
c.287A>G (p.Asp96Gly)
c.674A>G (p.Asp225Gly)
c.255A>G (p.Ter85Trp)
c.329A>G (p.Asp110Gly)
c.296A>G (p.Asp99Gly)
18g.3457408A>TCA401723202TGIF1c.227A>T (p.Asp76Val)
c.287A>T (p.Asp96Val)
c.674A>T (p.Asp225Val)
c.255A>T (p.Ter85Cys)
c.329A>T (p.Asp110Val)
c.296A>T (p.Asp99Val)
18g.3457409C>ACA401723206TGIF1c.228C>A (p.Asp76Glu)
c.288C>A (p.Asp96Glu)
c.675C>A (p.Asp225Glu)
c.*1C>A (n.*1C>A)
c.330C>A (p.Asp110Glu)
c.297C>A (p.Asp99Glu)
18g.3457409C>GCA401723205TGIF1c.228C>G (p.Asp76Glu)
c.288C>G (p.Asp96Glu)
c.675C>G (p.Asp225Glu)
c.*1C>G (n.*1C>G)
c.330C>G (p.Asp110Glu)
c.297C>G (p.Asp99Glu)
18g.3457409C>TCA502810352TGIF1c.228C>T (p.Asp76=)
c.288C>T (p.Asp96=)
c.675C>T (p.Asp225=)
c.*1C>T (n.*1C>T)
c.330C>T (p.Asp110=)
c.297C>T (p.Asp99=)
ClinVar dbSNP gnomAD v4
18g.3457410A=CA2281035512TGIF1c.229A= (p.Met77=)
c.289A= (p.Met97=)
c.676A= (p.Met226=)
c.*2A= (n.*2A=)
c.331A= (p.Met111=)
c.298A= (p.Met100=)
18g.3457410A>CCA401723207TGIF1c.229A>C (p.Met77Leu)
c.289A>C (p.Met97Leu)
c.676A>C (p.Met226Leu)
c.*2A>C (n.*2A>C)
c.331A>C (p.Met111Leu)
c.298A>C (p.Met100Leu)
18g.3457410A>GCA8875925TGIF1c.229A>G (p.Met77Val)
c.289A>G (p.Met97Val)
c.676A>G (p.Met226Val)
c.*2A>G (n.*2A>G)
c.331A>G (p.Met111Val)
c.298A>G (p.Met100Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457410A>TCA401723208TGIF1c.229A>T (p.Met77Leu)
c.289A>T (p.Met97Leu)
c.676A>T (p.Met226Leu)
c.*2A>T (n.*2A>T)
c.331A>T (p.Met111Leu)
c.298A>T (p.Met100Leu)
dbSNP gnomAD v2 gnomAD v4
18g.3457411T>ACA401723209TGIF1c.230T>A (p.Met77Lys)
c.290T>A (p.Met97Lys)
c.677T>A (p.Met226Lys)
c.*3T>A (n.*3T>A)
c.332T>A (p.Met111Lys)
c.299T>A (p.Met100Lys)
18g.3457411T>CCA401723210TGIF1c.230T>C (p.Met77Thr)
c.290T>C (p.Met97Thr)
c.677T>C (p.Met226Thr)
c.*3T>C (n.*3T>C)
c.332T>C (p.Met111Thr)
c.299T>C (p.Met100Thr)
gnomAD v4
18g.3457411T>GCA401723211TGIF1c.230T>G (p.Met77Arg)
c.290T>G (p.Met97Arg)
c.677T>G (p.Met226Arg)
c.*3T>G (n.*3T>G)
c.332T>G (p.Met111Arg)
c.299T>G (p.Met100Arg)
18g.3457412G>ACA401723212TGIF1c.231G>A (p.Met77Ile)
c.291G>A (p.Met97Ile)
c.678G>A (p.Met226Ile)
c.*4G>A (n.*4G>A)
c.333G>A (p.Met111Ile)
c.300G>A (p.Met100Ile)
ClinVar gnomAD v4
18g.3457412G>CCA401723213TGIF1c.231G>C (p.Met77Ile)
c.291G>C (p.Met97Ile)
c.678G>C (p.Met226Ile)
c.*4G>C (n.*4G>C)
c.333G>C (p.Met111Ile)
c.300G>C (p.Met100Ile)
18g.3457412G>TCA401723214TGIF1c.231G>T (p.Met77Ile)
c.291G>T (p.Met97Ile)
c.678G>T (p.Met226Ile)
c.*4G>T (n.*4G>T)
c.333G>T (p.Met111Ile)
c.300G>T (p.Met100Ile)
18g.3457412dupCA2640853005TGIF1c.231dup (p.Leu78AlafsTer22)
c.291dup (p.Leu98AlafsTer22)
c.678dup (p.Leu227AlafsTer22)
c.291dup (p.Leu98AlafsTer?)
c.231dup (p.Leu78AlafsTer?)
c.*4dup (n.*4dup)
c.333dup (p.Leu112AlafsTer22)
c.300dup (p.Leu101AlafsTer22)
gnomAD v4
18g.3457413C>ACA401723215TGIF1c.232C>A (p.Leu78Met)
c.292C>A (p.Leu98Met)
c.679C>A (p.Leu227Met)
c.*5C>A (n.*5C>A)
c.334C>A (p.Leu112Met)
c.301C>A (p.Leu101Met)
18g.3457413C>GCA401723216TGIF1c.232C>G (p.Leu78Val)
c.292C>G (p.Leu98Val)
c.679C>G (p.Leu227Val)
c.*5C>G (n.*5C>G)
c.334C>G (p.Leu112Val)
c.301C>G (p.Leu101Val)
18g.3457413C>TCA502810354TGIF1c.232C>T (p.Leu78=)
c.292C>T (p.Leu98=)
c.679C>T (p.Leu227=)
c.*5C>T (n.*5C>T)
c.334C>T (p.Leu112=)
c.301C>T (p.Leu101=)
18g.3457414T>ACA401723219TGIF1c.233T>A (p.Leu78Gln)
c.293T>A (p.Leu98Gln)
c.680T>A (p.Leu227Gln)
c.*6T>A (n.*6T>A)
c.335T>A (p.Leu112Gln)
c.302T>A (p.Leu101Gln)
18g.3457414T>CCA401723218TGIF1c.233T>C (p.Leu78Pro)
c.293T>C (p.Leu98Pro)
c.680T>C (p.Leu227Pro)
c.*6T>C (n.*6T>C)
c.335T>C (p.Leu112Pro)
c.302T>C (p.Leu101Pro)
18g.3457414T>GCA401723217TGIF1c.233T>G (p.Leu78Arg)
c.293T>G (p.Leu98Arg)
c.680T>G (p.Leu227Arg)
c.*6T>G (n.*6T>G)
c.335T>G (p.Leu112Arg)
c.302T>G (p.Leu101Arg)
18g.3457415G>ACA502810355TGIF1c.234G>A (p.Leu78=)
c.294G>A (p.Leu98=)
c.681G>A (p.Leu227=)
c.*7G>A (n.*7G>A)
c.336G>A (p.Leu112=)
c.303G>A (p.Leu101=)
gnomAD v4
18g.3457415G>CCA502810356TGIF1c.234G>C (p.Leu78=)
c.294G>C (p.Leu98=)
c.681G>C (p.Leu227=)
c.*7G>C (n.*7G>C)
c.336G>C (p.Leu112=)
c.303G>C (p.Leu101=)
18g.3457415G>TCA502810358TGIF1c.234G>T (p.Leu78=)
c.294G>T (p.Leu98=)
c.681G>T (p.Leu227=)
c.*7G>T (n.*7G>T)
c.336G>T (p.Leu112=)
c.303G>T (p.Leu101=)
18g.3457416A>CCA502810360TGIF1c.235A>C (p.Arg79=)
c.295A>C (p.Arg99=)
c.682A>C (p.Arg228=)
c.*8A>C (n.*8A>C)
c.337A>C (p.Arg113=)
c.304A>C (p.Arg102=)
18g.3457416A>GCA401723220TGIF1c.235A>G (p.Arg79Gly)
c.295A>G (p.Arg99Gly)
c.682A>G (p.Arg228Gly)
c.*8A>G (n.*8A>G)
c.337A>G (p.Arg113Gly)
c.304A>G (p.Arg102Gly)
gnomAD v4
18g.3457416A>TCA401723221TGIF1c.235A>T (p.Arg79Ter)
c.295A>T (p.Arg99Ter)
c.682A>T (p.Arg228Ter)
c.*8A>T (n.*8A>T)
c.337A>T (p.Arg113Ter)
c.304A>T (p.Arg102Ter)
18g.3457417G>ACA401723222TGIF1c.236G>A (p.Arg79Lys)
c.296G>A (p.Arg99Lys)
c.683G>A (p.Arg228Lys)
c.*9G>A (n.*9G>A)
c.338G>A (p.Arg113Lys)
c.305G>A (p.Arg102Lys)
18g.3457417G>CCA401723223TGIF1c.236G>C (p.Arg79Thr)
c.296G>C (p.Arg99Thr)
c.683G>C (p.Arg228Thr)
c.*9G>C (n.*9G>C)
c.338G>C (p.Arg113Thr)
c.305G>C (p.Arg102Thr)
18g.3457417G>TCA401723224TGIF1c.236G>T (p.Arg79Ile)
c.296G>T (p.Arg99Ile)
c.683G>T (p.Arg228Ile)
c.*9G>T (n.*9G>T)
c.338G>T (p.Arg113Ile)
c.305G>T (p.Arg102Ile)
COSMIC COSMIC
18g.3457418A>CCA401723225TGIF1c.237A>C (p.Arg79Ser)
c.297A>C (p.Arg99Ser)
c.684A>C (p.Arg228Ser)
c.*10A>C (n.*10A>C)
c.339A>C (p.Arg113Ser)
c.306A>C (p.Arg102Ser)
18g.3457418A>GCA502810362TGIF1c.237A>G (p.Arg79=)
c.297A>G (p.Arg99=)
c.684A>G (p.Arg228=)
c.*10A>G (n.*10A>G)
c.339A>G (p.Arg113=)
c.306A>G (p.Arg102=)
18g.3457418A>TCA401723226TGIF1c.237A>T (p.Arg79Ser)
c.297A>T (p.Arg99Ser)
c.684A>T (p.Arg228Ser)
c.*10A>T (n.*10A>T)
c.339A>T (p.Arg113Ser)
c.306A>T (p.Arg102Ser)
18g.3457419A=CA2281035513TGIF1c.238A= (p.Lys80=)
c.298A= (p.Lys100=)
c.685A= (p.Lys229=)
c.*11A= (n.*11A=)
c.340A= (p.Lys114=)
c.307A= (p.Lys103=)
18g.3457419A>CCA401723227TGIF1c.238A>C (p.Lys80Gln)
c.298A>C (p.Lys100Gln)
c.685A>C (p.Lys229Gln)
c.*11A>C (n.*11A>C)
c.340A>C (p.Lys114Gln)
c.307A>C (p.Lys103Gln)
18g.3457419A>GCA8875926TGIF1c.238A>G (p.Lys80Glu)
c.298A>G (p.Lys100Glu)
c.685A>G (p.Lys229Glu)
c.*11A>G (n.*11A>G)
c.340A>G (p.Lys114Glu)
c.307A>G (p.Lys103Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457419A>TCA401723228TGIF1c.238A>T (p.Lys80Ter)
c.298A>T (p.Lys100Ter)
c.685A>T (p.Lys229Ter)
c.*11A>T (n.*11A>T)
c.340A>T (p.Lys114Ter)
c.307A>T (p.Lys103Ter)
18g.3457420A=CA2281035514TGIF1c.239A= (p.Lys80=)
c.299A= (p.Lys100=)
c.686A= (p.Lys229=)
c.*12A= (n.*12A=)
c.341A= (p.Lys114=)
c.308A= (p.Lys103=)
18g.3457420A>CCA401723229TGIF1c.239A>C (p.Lys80Thr)
c.299A>C (p.Lys100Thr)
c.686A>C (p.Lys229Thr)
c.*12A>C (n.*12A>C)
c.341A>C (p.Lys114Thr)
c.308A>C (p.Lys103Thr)
dbSNP gnomAD v3 gnomAD v4
18g.3457420A>GCA8875927TGIF1c.239A>G (p.Lys80Arg)
c.299A>G (p.Lys100Arg)
c.686A>G (p.Lys229Arg)
c.*12A>G (n.*12A>G)
c.341A>G (p.Lys114Arg)
c.308A>G (p.Lys103Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457420A>TCA401723230TGIF1c.239A>T (p.Lys80Met)
c.299A>T (p.Lys100Met)
c.686A>T (p.Lys229Met)
c.*12A>T (n.*12A>T)
c.341A>T (p.Lys114Met)
c.308A>T (p.Lys103Met)
18g.3457421G>ACA502810364TGIF1c.240G>A (p.Lys80=)
c.300G>A (p.Lys100=)
c.687G>A (p.Lys229=)
c.*13G>A (n.*13G>A)
c.342G>A (p.Lys114=)
c.309G>A (p.Lys103=)
COSMIC COSMIC
18g.3457421G>CCA401723232TGIF1c.240G>C (p.Lys80Asn)
c.300G>C (p.Lys100Asn)
c.687G>C (p.Lys229Asn)
c.*13G>C (n.*13G>C)
c.342G>C (p.Lys114Asn)
c.309G>C (p.Lys103Asn)
18g.3457421G>TCA401723231TGIF1c.240G>T (p.Lys80Asn)
c.300G>T (p.Lys100Asn)
c.687G>T (p.Lys229Asn)
c.*13G>T (n.*13G>T)
c.342G>T (p.Lys114Asn)
c.309G>T (p.Lys103Asn)
18g.3457422G>ACA401723233TGIF1c.241G>A (p.Asp81Asn)
c.301G>A (p.Asp101Asn)
c.688G>A (p.Asp230Asn)
c.*14G>A (n.*14G>A)
c.343G>A (p.Asp115Asn)
c.310G>A (p.Asp104Asn)
dbSNP gnomAD v3 gnomAD v4
18g.3457422G>CCA401723234TGIF1c.241G>C (p.Asp81His)
c.301G>C (p.Asp101His)
c.688G>C (p.Asp230His)
c.*14G>C (n.*14G>C)
c.343G>C (p.Asp115His)
c.310G>C (p.Asp104His)
18g.3457422G=CA2281035515TGIF1c.241G= (p.Asp81=)
c.301G= (p.Asp101=)
c.688G= (p.Asp230=)
c.*14G= (n.*14G=)
c.343G= (p.Asp115=)
c.310G= (p.Asp104=)
18g.3457422G>TCA401723235TGIF1c.241G>T (p.Asp81Tyr)
c.301G>T (p.Asp101Tyr)
c.688G>T (p.Asp230Tyr)
c.*14G>T (n.*14G>T)
c.343G>T (p.Asp115Tyr)
c.310G>T (p.Asp104Tyr)
18g.3457423A>CCA401723236TGIF1c.242A>C (p.Asp81Ala)
c.302A>C (p.Asp101Ala)
c.689A>C (p.Asp230Ala)
c.*15A>C (n.*15A>C)
c.344A>C (p.Asp115Ala)
c.311A>C (p.Asp104Ala)
18g.3457423A>GCA401723237TGIF1c.242A>G (p.Asp81Gly)
c.302A>G (p.Asp101Gly)
c.689A>G (p.Asp230Gly)
c.*15A>G (n.*15A>G)
c.344A>G (p.Asp115Gly)
c.311A>G (p.Asp104Gly)
18g.3457423A>TCA401723238TGIF1c.242A>T (p.Asp81Val)
c.302A>T (p.Asp101Val)
c.689A>T (p.Asp230Val)
c.*15A>T (n.*15A>T)
c.344A>T (p.Asp115Val)
c.311A>T (p.Asp104Val)
18g.3457424T>ACA401723240TGIF1c.243T>A (p.Asp81Glu)
c.303T>A (p.Asp101Glu)
c.690T>A (p.Asp230Glu)
c.*16T>A (n.*16T>A)
c.345T>A (p.Asp115Glu)
c.312T>A (p.Asp104Glu)
18g.3457424T>CCA502810366TGIF1c.243T>C (p.Asp81=)
c.303T>C (p.Asp101=)
c.690T>C (p.Asp230=)
c.*16T>C (n.*16T>C)
c.345T>C (p.Asp115=)
c.312T>C (p.Asp104=)
dbSNP gnomAD v3 gnomAD v4
18g.3457424T>GCA401723239TGIF1c.243T>G (p.Asp81Glu)
c.303T>G (p.Asp101Glu)
c.690T>G (p.Asp230Glu)
c.*16T>G (n.*16T>G)
c.345T>G (p.Asp115Glu)
c.312T>G (p.Asp104Glu)
18g.3457424T=CA2281035516TGIF1c.243T= (p.Asp81=)
c.303T= (p.Asp101=)
c.690T= (p.Asp230=)
c.*16T= (n.*16T=)
c.345T= (p.Asp115=)
c.312T= (p.Asp104=)
18g.3457425G>ACA401723241TGIF1c.244G>A (p.Gly82Ser)
c.304G>A (p.Gly102Ser)
c.691G>A (p.Gly231Ser)
c.*17G>A (n.*17G>A)
c.346G>A (p.Gly116Ser)
c.313G>A (p.Gly105Ser)
18g.3457425G>CCA401723242TGIF1c.244G>C (p.Gly82Arg)
c.304G>C (p.Gly102Arg)
c.691G>C (p.Gly231Arg)
c.*17G>C (n.*17G>C)
c.346G>C (p.Gly116Arg)
c.313G>C (p.Gly105Arg)
18g.3457425G>TCA401723243TGIF1c.244G>T (p.Gly82Cys)
c.304G>T (p.Gly102Cys)
c.691G>T (p.Gly231Cys)
c.*17G>T (n.*17G>T)
c.346G>T (p.Gly116Cys)
c.313G>T (p.Gly105Cys)
18g.3457426G>ACA401723244TGIF1c.245G>A (p.Gly82Asp)
c.305G>A (p.Gly102Asp)
c.692G>A (p.Gly231Asp)
c.*18G>A (n.*18G>A)
c.347G>A (p.Gly116Asp)
c.314G>A (p.Gly105Asp)
18g.3457426G>CCA401723245TGIF1c.245G>C (p.Gly82Ala)
c.305G>C (p.Gly102Ala)
c.692G>C (p.Gly231Ala)
c.*18G>C (n.*18G>C)
c.347G>C (p.Gly116Ala)
c.314G>C (p.Gly105Ala)
18g.3457426G>TCA401723246TGIF1c.245G>T (p.Gly82Val)
c.305G>T (p.Gly102Val)
c.692G>T (p.Gly231Val)
c.*18G>T (n.*18G>T)
c.347G>T (p.Gly116Val)
c.314G>T (p.Gly105Val)
18g.3457427C>ACA502810368TGIF1c.246C>A (p.Gly82=)
c.306C>A (p.Gly102=)
c.693C>A (p.Gly231=)
c.*19C>A (n.*19C>A)
c.348C>A (p.Gly116=)
c.315C>A (p.Gly105=)
18g.3457427C>GCA502810369TGIF1c.246C>G (p.Gly82=)
c.306C>G (p.Gly102=)
c.693C>G (p.Gly231=)
c.*19C>G (n.*19C>G)
c.348C>G (p.Gly116=)
c.315C>G (p.Gly105=)
18g.3457427C>TCA502810370TGIF1c.246C>T (p.Gly82=)
c.306C>T (p.Gly102=)
c.693C>T (p.Gly231=)
c.*19C>T (n.*19C>T)
c.348C>T (p.Gly116=)
c.315C>T (p.Gly105=)
gnomAD v4
18g.3457428A>CCA401723249TGIF1c.247A>C (p.Lys83Gln)
c.307A>C (p.Lys103Gln)
c.694A>C (p.Lys232Gln)
c.*20A>C (n.*20A>C)
c.349A>C (p.Lys117Gln)
c.316A>C (p.Lys106Gln)
18g.3457428A>GCA401723247TGIF1c.247A>G (p.Lys83Glu)
c.307A>G (p.Lys103Glu)
c.694A>G (p.Lys232Glu)
c.*20A>G (n.*20A>G)
c.349A>G (p.Lys117Glu)
c.316A>G (p.Lys106Glu)
18g.3457428A>TCA401723248TGIF1c.247A>T (p.Lys83Ter)
c.307A>T (p.Lys103Ter)
c.694A>T (p.Lys232Ter)
c.*20A>T (n.*20A>T)
c.349A>T (p.Lys117Ter)
c.316A>T (p.Lys106Ter)
18g.3457429A=CA2281035517TGIF1c.248A= (p.Lys83=)
c.308A= (p.Lys103=)
c.695A= (p.Lys232=)
c.*21A= (n.*21A=)
c.350A= (p.Lys117=)
c.317A= (p.Lys106=)
18g.3457429A>CCA401723250TGIF1c.248A>C (p.Lys83Thr)
c.308A>C (p.Lys103Thr)
c.695A>C (p.Lys232Thr)
c.*21A>C (n.*21A>C)
c.350A>C (p.Lys117Thr)
c.317A>C (p.Lys106Thr)
18g.3457429A>GCA401723251TGIF1c.248A>G (p.Lys83Arg)
c.308A>G (p.Lys103Arg)
c.695A>G (p.Lys232Arg)
c.*21A>G (n.*21A>G)
c.350A>G (p.Lys117Arg)
c.317A>G (p.Lys106Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.3457429A>TCA401723252TGIF1c.248A>T (p.Lys83Ile)
c.308A>T (p.Lys103Ile)
c.695A>T (p.Lys232Ile)
c.*21A>T (n.*21A>T)
c.350A>T (p.Lys117Ile)
c.317A>T (p.Lys106Ile)
18g.3457430A>CCA401723253TGIF1c.249A>C (p.Lys83Asn)
c.309A>C (p.Lys103Asn)
c.696A>C (p.Lys232Asn)
c.*22A>C (n.*22A>C)
c.351A>C (p.Lys117Asn)
c.318A>C (p.Lys106Asn)
18g.3457430A>GCA502810372TGIF1c.249A>G (p.Lys83=)
c.309A>G (p.Lys103=)
c.696A>G (p.Lys232=)
c.*22A>G (n.*22A>G)
c.351A>G (p.Lys117=)
c.318A>G (p.Lys106=)
18g.3457430A>TCA401723254TGIF1c.249A>T (p.Lys83Asn)
c.309A>T (p.Lys103Asn)
c.696A>T (p.Lys232Asn)
c.*22A>T (n.*22A>T)
c.351A>T (p.Lys117Asn)
c.318A>T (p.Lys106Asn)
18g.3457431G>ACA401723255TGIF1c.250G>A (p.Asp84Asn)
c.310G>A (p.Asp104Asn)
c.697G>A (p.Asp233Asn)
c.*23G>A (n.*23G>A)
c.352G>A (p.Asp118Asn)
c.319G>A (p.Asp107Asn)
dbSNP gnomAD v3 gnomAD v4
18g.3457431G>CCA401723256TGIF1c.250G>C (p.Asp84His)
c.310G>C (p.Asp104His)
c.697G>C (p.Asp233His)
c.*23G>C (n.*23G>C)
c.352G>C (p.Asp118His)
c.319G>C (p.Asp107His)
18g.3457431G=CA2281035518TGIF1c.250G= (p.Asp84=)
c.310G= (p.Asp104=)
c.697G= (p.Asp233=)
c.*23G= (n.*23G=)
c.352G= (p.Asp118=)
c.319G= (p.Asp107=)
18g.3457431G>TCA401723257TGIF1c.250G>T (p.Asp84Tyr)
c.310G>T (p.Asp104Tyr)
c.697G>T (p.Asp233Tyr)
c.*23G>T (n.*23G>T)
c.352G>T (p.Asp118Tyr)
c.319G>T (p.Asp107Tyr)
18g.3457432A>CCA401723258TGIF1c.251A>C (p.Asp84Ala)
c.311A>C (p.Asp104Ala)
c.698A>C (p.Asp233Ala)
c.*24A>C (n.*24A>C)
c.353A>C (p.Asp118Ala)
c.320A>C (p.Asp107Ala)
18g.3457432A>GCA401723259TGIF1c.251A>G (p.Asp84Gly)
c.311A>G (p.Asp104Gly)
c.698A>G (p.Asp233Gly)
c.*24A>G (n.*24A>G)
c.353A>G (p.Asp118Gly)
c.320A>G (p.Asp107Gly)
18g.3457432A>TCA401723260TGIF1c.251A>T (p.Asp84Val)
c.311A>T (p.Asp104Val)
c.698A>T (p.Asp233Val)
c.*24A>T (n.*24A>T)
c.353A>T (p.Asp118Val)
c.320A>T (p.Asp107Val)
18g.3457433T>ACA401723261TGIF1c.252T>A (p.Asp84Glu)
c.312T>A (p.Asp104Glu)
c.699T>A (p.Asp233Glu)
c.*25T>A (n.*25T>A)
c.354T>A (p.Asp118Glu)
c.321T>A (p.Asp107Glu)
18g.3457433T>CCA502810375TGIF1c.252T>C (p.Asp84=)
c.312T>C (p.Asp104=)
c.699T>C (p.Asp233=)
c.*25T>C (n.*25T>C)
c.354T>C (p.Asp118=)
c.321T>C (p.Asp107=)
18g.3457433T>GCA401723262TGIF1c.252T>G (p.Asp84Glu)
c.312T>G (p.Asp104Glu)
c.699T>G (p.Asp233Glu)
c.*25T>G (n.*25T>G)
c.354T>G (p.Asp118Glu)
c.321T>G (p.Asp107Glu)
18g.3457434C>ACA401723265TGIF1c.253C>A (p.Pro85Thr)
c.313C>A (p.Pro105Thr)
c.700C>A (p.Pro234Thr)
c.*26C>A (n.*26C>A)
c.355C>A (p.Pro119Thr)
c.322C>A (p.Pro108Thr)
18g.3457434C>GCA401723263TGIF1c.253C>G (p.Pro85Ala)
c.313C>G (p.Pro105Ala)
c.700C>G (p.Pro234Ala)
c.*26C>G (n.*26C>G)
c.355C>G (p.Pro119Ala)
c.322C>G (p.Pro108Ala)
18g.3457434C>TCA401723264TGIF1c.253C>T (p.Pro85Ser)
c.313C>T (p.Pro105Ser)
c.700C>T (p.Pro234Ser)
c.*26C>T (n.*26C>T)
c.355C>T (p.Pro119Ser)
c.322C>T (p.Pro108Ser)
dbSNP
18g.3457435C>ACA401723266TGIF1c.254C>A (p.Pro85Gln)
c.314C>A (p.Pro105Gln)
c.701C>A (p.Pro234Gln)
c.*27C>A (n.*27C>A)
c.356C>A (p.Pro119Gln)
c.323C>A (p.Pro108Gln)
18g.3457435C>GCA401723267TGIF1c.254C>G (p.Pro85Arg)
c.314C>G (p.Pro105Arg)
c.701C>G (p.Pro234Arg)
c.*27C>G (n.*27C>G)
c.356C>G (p.Pro119Arg)
c.323C>G (p.Pro108Arg)
18g.3457435C>TCA401723268TGIF1c.254C>T (p.Pro85Leu)
c.314C>T (p.Pro105Leu)
c.701C>T (p.Pro234Leu)
c.*27C>T (n.*27C>T)
c.356C>T (p.Pro119Leu)
c.323C>T (p.Pro108Leu)
18g.3457436A>CCA502810378TGIF1c.255A>C (p.Pro85=)
c.315A>C (p.Pro105=)
c.702A>C (p.Pro234=)
c.*28A>C (n.*28A>C)
c.357A>C (p.Pro119=)
c.324A>C (p.Pro108=)
18g.3457436A>GCA502810380TGIF1c.255A>G (p.Pro85=)
c.315A>G (p.Pro105=)
c.702A>G (p.Pro234=)
c.*28A>G (n.*28A>G)
c.357A>G (p.Pro119=)
c.324A>G (p.Pro108=)
18g.3457436A>TCA502810381TGIF1c.255A>T (p.Pro85=)
c.315A>T (p.Pro105=)
c.702A>T (p.Pro234=)
c.*28A>T (n.*28A>T)
c.357A>T (p.Pro119=)
c.324A>T (p.Pro108=)
18g.3457437A=CA2281035519TGIF1c.256A= (p.Asn86=)
c.316A= (p.Asn106=)
c.703A= (p.Asn235=)
c.*29A= (n.*29A=)
c.358A= (p.Asn120=)
c.325A= (p.Asn109=)
18g.3457437A>CCA401723269TGIF1c.256A>C (p.Asn86His)
c.316A>C (p.Asn106His)
c.703A>C (p.Asn235His)
c.*29A>C (n.*29A>C)
c.358A>C (p.Asn120His)
c.325A>C (p.Asn109His)
18g.3457437A>GCA401723270TGIF1c.256A>G (p.Asn86Asp)
c.316A>G (p.Asn106Asp)
c.703A>G (p.Asn235Asp)
c.*29A>G (n.*29A>G)
c.358A>G (p.Asn120Asp)
c.325A>G (p.Asn109Asp)
18g.3457437A>TCA401723271TGIF1c.256A>T (p.Asn86Tyr)
c.316A>T (p.Asn106Tyr)
c.703A>T (p.Asn235Tyr)
c.*29A>T (n.*29A>T)
c.358A>T (p.Asn120Tyr)
c.325A>T (p.Asn109Tyr)
dbSNP gnomAD v4
18g.3457438A>CCA401723272TGIF1c.257A>C (p.Asn86Thr)
c.317A>C (p.Asn106Thr)
c.704A>C (p.Asn235Thr)
c.*30A>C (n.*30A>C)
c.359A>C (p.Asn120Thr)
c.326A>C (p.Asn109Thr)
18g.3457438A>GCA401723273TGIF1c.257A>G (p.Asn86Ser)
c.317A>G (p.Asn106Ser)
c.704A>G (p.Asn235Ser)
c.*30A>G (n.*30A>G)
c.359A>G (p.Asn120Ser)
c.326A>G (p.Asn109Ser)
gnomAD v4
18g.3457438A>TCA401723274TGIF1c.257A>T (p.Asn86Ile)
c.317A>T (p.Asn106Ile)
c.704A>T (p.Asn235Ile)
c.*30A>T (n.*30A>T)
c.359A>T (p.Asn120Ile)
c.326A>T (p.Asn109Ile)
18g.3457439T>ACA401723275TGIF1c.258T>A (p.Asn86Lys)
c.318T>A (p.Asn106Lys)
c.705T>A (p.Asn235Lys)
c.*31T>A (n.*31T>A)
c.360T>A (p.Asn120Lys)
c.327T>A (p.Asn109Lys)
18g.3457439T>CCA502810383TGIF1c.258T>C (p.Asn86=)
c.318T>C (p.Asn106=)
c.705T>C (p.Asn235=)
c.*31T>C (n.*31T>C)
c.360T>C (p.Asn120=)
c.327T>C (p.Asn109=)
18g.3457439T>GCA401723276TGIF1c.258T>G (p.Asn86Lys)
c.318T>G (p.Asn106Lys)
c.705T>G (p.Asn235Lys)
c.*31T>G (n.*31T>G)
c.360T>G (p.Asn120Lys)
c.327T>G (p.Asn109Lys)
18g.3457440C>ACA401723277TGIF1c.259C>A (p.Gln87Lys)
c.319C>A (p.Gln107Lys)
c.706C>A (p.Gln236Lys)
c.*32C>A (n.*32C>A)
c.361C>A (p.Gln121Lys)
c.328C>A (p.Gln110Lys)
gnomAD v4
18g.3457440C>GCA401723278TGIF1c.259C>G (p.Gln87Glu)
c.319C>G (p.Gln107Glu)
c.706C>G (p.Gln236Glu)
c.*32C>G (n.*32C>G)
c.361C>G (p.Gln121Glu)
c.328C>G (p.Gln110Glu)
18g.3457440C>TCA401723279TGIF1c.259C>T (p.Gln87Ter)
c.319C>T (p.Gln107Ter)
c.706C>T (p.Gln236Ter)
c.*32C>T (n.*32C>T)
c.361C>T (p.Gln121Ter)
c.328C>T (p.Gln110Ter)
ClinVar
18g.3457441A=CA2281035520TGIF1c.260A= (p.Gln87=)
c.320A= (p.Gln107=)
c.707A= (p.Gln236=)
c.*33A= (n.*33A=)
c.362A= (p.Gln121=)
c.329A= (p.Gln110=)
18g.3457441A>CCA401723280TGIF1c.260A>C (p.Gln87Pro)
c.320A>C (p.Gln107Pro)
c.707A>C (p.Gln236Pro)
c.*33A>C (n.*33A>C)
c.362A>C (p.Gln121Pro)
c.329A>C (p.Gln110Pro)
18g.3457441A>GCA8875928TGIF1c.260A>G (p.Gln87Arg)
c.320A>G (p.Gln107Arg)
c.707A>G (p.Gln236Arg)
c.*33A>G (n.*33A>G)
c.362A>G (p.Gln121Arg)
c.329A>G (p.Gln110Arg)
dbSNP ExAC gnomAD v2
18g.3457441A>TCA254034TGIF1c.260A>T (p.Gln87Leu)
c.320A>T (p.Gln107Leu)
c.707A>T (p.Gln236Leu)
c.*33A>T (n.*33A>T)
c.362A>T (p.Gln121Leu)
c.329A>T (p.Gln110Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457442G>ACA8875929TGIF1c.261G>A (p.Gln87=)
c.321G>A (p.Gln107=)
c.708G>A (p.Gln236=)
c.*34G>A (n.*34G>A)
c.363G>A (p.Gln121=)
c.330G>A (p.Gln110=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457442G>CCA401723281TGIF1c.261G>C (p.Gln87His)
c.321G>C (p.Gln107His)
c.708G>C (p.Gln236His)
c.*34G>C (n.*34G>C)
c.363G>C (p.Gln121His)
c.330G>C (p.Gln110His)
18g.3457442G=CA2281035521TGIF1c.261G= (p.Gln87=)
c.321G= (p.Gln107=)
c.708G= (p.Gln236=)
c.*34G= (n.*34G=)
c.363G= (p.Gln121=)
c.330G= (p.Gln110=)
18g.3457442G>TCA295566999TGIF1c.261G>T (p.Gln87His)
c.321G>T (p.Gln107His)
c.708G>T (p.Gln236His)
c.*34G>T (n.*34G>T)
c.363G>T (p.Gln121His)
c.330G>T (p.Gln110His)
dbSNP gnomAD v3 gnomAD v4
18g.3457443T>ACA401723282TGIF1c.262T>A (p.Phe88Ile)
c.322T>A (p.Phe108Ile)
c.709T>A (p.Phe237Ile)
c.*35T>A (n.*35T>A)
c.364T>A (p.Phe122Ile)
c.331T>A (p.Phe111Ile)
18g.3457443T>CCA401723283TGIF1c.262T>C (p.Phe88Leu)
c.322T>C (p.Phe108Leu)
c.709T>C (p.Phe237Leu)
c.*35T>C (n.*35T>C)
c.364T>C (p.Phe122Leu)
c.331T>C (p.Phe111Leu)
18g.3457443T>GCA401723284TGIF1c.262T>G (p.Phe88Val)
c.322T>G (p.Phe108Val)
c.709T>G (p.Phe237Val)
c.*35T>G (n.*35T>G)
c.364T>G (p.Phe122Val)
c.331T>G (p.Phe111Val)
18g.3457444T>ACA401723285TGIF1c.263T>A (p.Phe88Tyr)
c.323T>A (p.Phe108Tyr)
c.710T>A (p.Phe237Tyr)
c.*36T>A (n.*36T>A)
c.365T>A (p.Phe122Tyr)
c.332T>A (p.Phe111Tyr)
18g.3457444T>CCA401723286TGIF1c.263T>C (p.Phe88Ser)
c.323T>C (p.Phe108Ser)
c.710T>C (p.Phe237Ser)
c.*36T>C (n.*36T>C)
c.365T>C (p.Phe122Ser)
c.332T>C (p.Phe111Ser)
18g.3457444T>GCA401723287TGIF1c.263T>G (p.Phe88Cys)
c.323T>G (p.Phe108Cys)
c.710T>G (p.Phe237Cys)
c.*36T>G (n.*36T>G)
c.365T>G (p.Phe122Cys)
c.332T>G (p.Phe111Cys)
18g.3457444_3457445insACAGACCTGAAATCATATCGGTACGCTTTAACA2500979315TGIF1c.263_264insACAGACCTGAAATCATATCGGTACGCTTTAA (p.Phe88LeufsTer4)
c.323_324insACAGACCTGAAATCATATCGGTACGCTTTAA (p.Phe108LeufsTer4)
c.710_711insACAGACCTGAAATCATATCGGTACGCTTTAA (p.Phe237LeufsTer4)
c.*36_*37insACAGACCTGAAATCATATCGGTACGCTTTAA (n.*36_*37insACAGACCTGAAATCATATCGGTACGCTTTAA)
c.365_366insACAGACCTGAAATCATATCGGTACGCTTTAA (p.Phe122LeufsTer4)
c.332_333insACAGACCTGAAATCATATCGGTACGCTTTAA (p.Phe111LeufsTer4)
18g.3457445C>ACA401723288TGIF1c.264C>A (p.Phe88Leu)
c.324C>A (p.Phe108Leu)
c.711C>A (p.Phe237Leu)
c.*37C>A (n.*37C>A)
c.366C>A (p.Phe122Leu)
c.333C>A (p.Phe111Leu)
18g.3457445C>GCA401723289TGIF1c.264C>G (p.Phe88Leu)
c.324C>G (p.Phe108Leu)
c.711C>G (p.Phe237Leu)
c.*37C>G (n.*37C>G)
c.366C>G (p.Phe122Leu)
c.333C>G (p.Phe111Leu)
18g.3457445C>TCA502810389TGIF1c.264C>T (p.Phe88=)
c.324C>T (p.Phe108=)
c.711C>T (p.Phe237=)
c.*37C>T (n.*37C>T)
c.366C>T (p.Phe122=)
c.333C>T (p.Phe111=)
18g.3457446A>CCA401723290TGIF1c.265A>C (p.Thr89Pro)
c.325A>C (p.Thr109Pro)
c.712A>C (p.Thr238Pro)
c.*38A>C (n.*38A>C)
c.367A>C (p.Thr123Pro)
c.334A>C (p.Thr112Pro)
18g.3457446A>GCA401723291TGIF1c.265A>G (p.Thr89Ala)
c.325A>G (p.Thr109Ala)
c.712A>G (p.Thr238Ala)
c.*38A>G (n.*38A>G)
c.367A>G (p.Thr123Ala)
c.334A>G (p.Thr112Ala)
18g.3457446A>TCA401723292TGIF1c.265A>T (p.Thr89Ser)
c.325A>T (p.Thr109Ser)
c.712A>T (p.Thr238Ser)
c.*38A>T (n.*38A>T)
c.367A>T (p.Thr123Ser)
c.334A>T (p.Thr112Ser)
18g.3457447C>ACA401723294TGIF1c.266C>A (p.Thr89Lys)
c.326C>A (p.Thr109Lys)
c.713C>A (p.Thr238Lys)
c.*39C>A (n.*39C>A)
c.368C>A (p.Thr123Lys)
c.335C>A (p.Thr112Lys)
18g.3457447C>GCA401723295TGIF1c.266C>G (p.Thr89Arg)
c.326C>G (p.Thr109Arg)
c.713C>G (p.Thr238Arg)
c.*39C>G (n.*39C>G)
c.368C>G (p.Thr123Arg)
c.335C>G (p.Thr112Arg)
18g.3457447C>TCA401723293TGIF1c.266C>T (p.Thr89Ile)
c.326C>T (p.Thr109Ile)
c.713C>T (p.Thr238Ile)
c.*39C>T (n.*39C>T)
c.368C>T (p.Thr123Ile)
c.335C>T (p.Thr112Ile)
18g.3457448A=CA2281035522TGIF1c.267A= (p.Thr89=)
c.327A= (p.Thr109=)
c.714A= (p.Thr238=)
c.*40A= (n.*40A=)
c.369A= (p.Thr123=)
c.336A= (p.Thr112=)
18g.3457448A>CCA502810390TGIF1c.267A>C (p.Thr89=)
c.327A>C (p.Thr109=)
c.714A>C (p.Thr238=)
c.*40A>C (n.*40A>C)
c.369A>C (p.Thr123=)
c.336A>C (p.Thr112=)
18g.3457448A>GCA8875931TGIF1c.267A>G (p.Thr89=)
c.327A>G (p.Thr109=)
c.714A>G (p.Thr238=)
c.*40A>G (n.*40A>G)
c.369A>G (p.Thr123=)
c.336A>G (p.Thr112=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457448A>TCA8875930TGIF1c.267A>T (p.Thr89=)
c.327A>T (p.Thr109=)
c.714A>T (p.Thr238=)
c.*40A>T (n.*40A>T)
c.369A>T (p.Thr123=)
c.336A>T (p.Thr112=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457449A=CA2281035523TGIF1c.268A= (p.Ile90=)
c.328A= (p.Ile110=)
c.715A= (p.Ile239=)
c.*41A= (n.*41A=)
c.370A= (p.Ile124=)
c.337A= (p.Ile113=)
18g.3457449A>CCA401723296TGIF1c.268A>C (p.Ile90Leu)
c.328A>C (p.Ile110Leu)
c.715A>C (p.Ile239Leu)
c.*41A>C (n.*41A>C)
c.370A>C (p.Ile124Leu)
c.337A>C (p.Ile113Leu)
18g.3457449A>GCA8875932TGIF1c.268A>G (p.Ile90Val)
c.328A>G (p.Ile110Val)
c.715A>G (p.Ile239Val)
c.*41A>G (n.*41A>G)
c.370A>G (p.Ile124Val)
c.337A>G (p.Ile113Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457449A>TCA401723297TGIF1c.268A>T (p.Ile90Phe)
c.328A>T (p.Ile110Phe)
c.715A>T (p.Ile239Phe)
c.*41A>T (n.*41A>T)
c.370A>T (p.Ile124Phe)
c.337A>T (p.Ile113Phe)
18g.3457450T>ACA401723298TGIF1c.269T>A (p.Ile90Asn)
c.329T>A (p.Ile110Asn)
c.716T>A (p.Ile239Asn)
c.*42T>A (n.*42T>A)
c.371T>A (p.Ile124Asn)
c.338T>A (p.Ile113Asn)
18g.3457450T>CCA401723299TGIF1c.269T>C (p.Ile90Thr)
c.329T>C (p.Ile110Thr)
c.716T>C (p.Ile239Thr)
c.*42T>C (n.*42T>C)
c.371T>C (p.Ile124Thr)
c.338T>C (p.Ile113Thr)
18g.3457450T>GCA401723300TGIF1c.269T>G (p.Ile90Ser)
c.329T>G (p.Ile110Ser)
c.716T>G (p.Ile239Ser)
c.*42T>G (n.*42T>G)
c.371T>G (p.Ile124Ser)
c.338T>G (p.Ile113Ser)
18g.3457451T>ACA502810395TGIF1c.270T>A (p.Ile90=)
c.330T>A (p.Ile110=)
c.717T>A (p.Ile239=)
c.*43T>A (n.*43T>A)
c.372T>A (p.Ile124=)
c.339T>A (p.Ile113=)
18g.3457451T>CCA502810396TGIF1c.270T>C (p.Ile90=)
c.330T>C (p.Ile110=)
c.717T>C (p.Ile239=)
c.*43T>C (n.*43T>C)
c.372T>C (p.Ile124=)
c.339T>C (p.Ile113=)
gnomAD v4
18g.3457451T>GCA401723301TGIF1c.270T>G (p.Ile90Met)
c.330T>G (p.Ile110Met)
c.717T>G (p.Ile239Met)
c.*43T>G (n.*43T>G)
c.372T>G (p.Ile124Met)
c.339T>G (p.Ile113Met)
COSMIC
18g.3457452T>ACA401723302TGIF1c.271T>A (p.Ser91Thr)
c.331T>A (p.Ser111Thr)
c.718T>A (p.Ser240Thr)
c.*44T>A (n.*44T>A)
c.373T>A (p.Ser125Thr)
c.340T>A (p.Ser114Thr)
18g.3457452T>CCA401723303TGIF1c.271T>C (p.Ser91Pro)
c.331T>C (p.Ser111Pro)
c.718T>C (p.Ser240Pro)
c.*44T>C (n.*44T>C)
c.373T>C (p.Ser125Pro)
c.340T>C (p.Ser114Pro)
18g.3457452T>GCA401723304TGIF1c.271T>G (p.Ser91Ala)
c.331T>G (p.Ser111Ala)
c.718T>G (p.Ser240Ala)
c.*44T>G (n.*44T>G)
c.373T>G (p.Ser125Ala)
c.340T>G (p.Ser114Ala)
18g.3457453C>ACA401723307TGIF1c.272C>A (p.Ser91Tyr)
c.332C>A (p.Ser111Tyr)
c.719C>A (p.Ser240Tyr)
c.*45C>A (n.*45C>A)
c.374C>A (p.Ser125Tyr)
c.341C>A (p.Ser114Tyr)
18g.3457453C>GCA401723306TGIF1c.272C>G (p.Ser91Cys)
c.332C>G (p.Ser111Cys)
c.719C>G (p.Ser240Cys)
c.*45C>G (n.*45C>G)
c.374C>G (p.Ser125Cys)
c.341C>G (p.Ser114Cys)
18g.3457453C>TCA401723305TGIF1c.272C>T (p.Ser91Phe)
c.332C>T (p.Ser111Phe)
c.719C>T (p.Ser240Phe)
c.*45C>T (n.*45C>T)
c.374C>T (p.Ser125Phe)
c.341C>T (p.Ser114Phe)
18g.3457454C>ACA502810398TGIF1c.273C>A (p.Ser91=)
c.333C>A (p.Ser111=)
c.720C>A (p.Ser240=)
c.*46C>A (n.*46C>A)
c.375C>A (p.Ser125=)
c.342C>A (p.Ser114=)
18g.3457454C>GCA502810399TGIF1c.273C>G (p.Ser91=)
c.333C>G (p.Ser111=)
c.720C>G (p.Ser240=)
c.*46C>G (n.*46C>G)
c.375C>G (p.Ser125=)
c.342C>G (p.Ser114=)
18g.3457454C>TCA502810400TGIF1c.273C>T (p.Ser91=)
c.333C>T (p.Ser111=)
c.720C>T (p.Ser240=)
c.*46C>T (n.*46C>T)
c.375C>T (p.Ser125=)
c.342C>T (p.Ser114=)
18g.3457455C>ACA401723308TGIF1c.274C>A (p.Arg92Ser)
c.334C>A (p.Arg112Ser)
c.721C>A (p.Arg241Ser)
c.274C>A
c.*47C>A (n.*47C>A)
c.376C>A (p.Arg126Ser)
c.343C>A (p.Arg115Ser)
18g.3457455C=CA2281035524TGIF1c.274C= (p.Arg92=)
c.334C= (p.Arg112=)
c.721C= (p.Arg241=)
c.274C=
c.*47C= (n.*47C=)
c.376C= (p.Arg126=)
c.343C= (p.Arg115=)
18g.3457455C>GCA401723309TGIF1c.274C>G (p.Arg92Gly)
c.334C>G (p.Arg112Gly)
c.721C>G (p.Arg241Gly)
c.274C>G
c.*47C>G (n.*47C>G)
c.376C>G (p.Arg126Gly)
c.343C>G (p.Arg115Gly)
18g.3457455C>TCA8875933TGIF1c.274C>T (p.Arg92Cys)
c.334C>T (p.Arg112Cys)
c.721C>T (p.Arg241Cys)
c.274C>T
c.*47C>T (n.*47C>T)
c.376C>T (p.Arg126Cys)
c.343C>T (p.Arg115Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457456G>ACA401723310TGIF1c.275G>A (p.Arg92His)
c.335G>A (p.Arg112His)
c.722G>A (p.Arg241His)
c.275G>A
c.*48G>A (n.*48G>A)
c.377G>A (p.Arg126His)
c.344G>A (p.Arg115His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.3457456G>CCA401723311TGIF1c.275G>C (p.Arg92Pro)
c.335G>C (p.Arg112Pro)
c.722G>C (p.Arg241Pro)
c.275G>C
c.*48G>C (n.*48G>C)
c.377G>C (p.Arg126Pro)
c.344G>C (p.Arg115Pro)
18g.3457456G=CA2281035525TGIF1c.275G= (p.Arg92=)
c.335G= (p.Arg112=)
c.722G= (p.Arg241=)
c.275G=
c.*48G= (n.*48G=)
c.377G= (p.Arg126=)
c.344G= (p.Arg115=)
18g.3457456G>TCA401723312TGIF1c.275G>T (p.Arg92Leu)
c.335G>T (p.Arg112Leu)
c.722G>T (p.Arg241Leu)
c.275G>T
c.*48G>T (n.*48G>T)
c.377G>T (p.Arg126Leu)
c.344G>T (p.Arg115Leu)
dbSNP gnomAD v4
18g.3457457C>ACA502810402TGIF1c.276C>A (p.Arg92=)
c.336C>A (p.Arg112=)
c.723C>A (p.Arg241=)
c.*49C>A (n.*49C>A)
c.378C>A (p.Arg126=)
c.345C>A (p.Arg115=)
18g.3457457C=CA2281035526TGIF1c.276C= (p.Arg92=)
c.336C= (p.Arg112=)
c.723C= (p.Arg241=)
c.*49C= (n.*49C=)
c.378C= (p.Arg126=)
c.345C= (p.Arg115=)
18g.3457457C>GCA502810404TGIF1c.276C>G (p.Arg92=)
c.336C>G (p.Arg112=)
c.723C>G (p.Arg241=)
c.*49C>G (n.*49C>G)
c.378C>G (p.Arg126=)
c.345C>G (p.Arg115=)
18g.3457457C>TCA295567020TGIF1c.276C>T (p.Arg92=)
c.336C>T (p.Arg112=)
c.723C>T (p.Arg241=)
c.*49C>T (n.*49C>T)
c.378C>T (p.Arg126=)
c.345C>T (p.Arg115=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.3457458C>ACA401723313TGIF1c.277C>A (p.Arg93Ser)
c.337C>A (p.Arg113Ser)
c.724C>A (p.Arg242Ser)
c.*50C>A (n.*50C>A)
c.379C>A (p.Arg127Ser)
c.346C>A (p.Arg116Ser)
18g.3457458C=CA2281035527TGIF1c.277C= (p.Arg93=)
c.337C= (p.Arg113=)
c.724C= (p.Arg242=)
c.*50C= (n.*50C=)
c.379C= (p.Arg127=)
c.346C= (p.Arg116=)
18g.3457458C>GCA401723314TGIF1c.277C>G (p.Arg93Gly)
c.337C>G (p.Arg113Gly)
c.724C>G (p.Arg242Gly)
c.*50C>G (n.*50C>G)
c.379C>G (p.Arg127Gly)
c.346C>G (p.Arg116Gly)
18g.3457458C>TCA8875934TGIF1c.277C>T (p.Arg93Cys)
c.337C>T (p.Arg113Cys)
c.724C>T (p.Arg242Cys)
c.*50C>T (n.*50C>T)
c.379C>T (p.Arg127Cys)
c.346C>T (p.Arg116Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457459G>ACA8875935TGIF1c.278G>A (p.Arg93His)
c.338G>A (p.Arg113His)
c.725G>A (p.Arg242His)
c.*51G>A (n.*51G>A)
c.380G>A (p.Arg127His)
c.347G>A (p.Arg116His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457459G>CCA401723315TGIF1c.278G>C (p.Arg93Pro)
c.338G>C (p.Arg113Pro)
c.725G>C (p.Arg242Pro)
c.*51G>C (n.*51G>C)
c.380G>C (p.Arg127Pro)
c.347G>C (p.Arg116Pro)
gnomAD v4
18g.3457459G=CA2281035528TGIF1c.278G= (p.Arg93=)
c.338G= (p.Arg113=)
c.725G= (p.Arg242=)
c.*51G= (n.*51G=)
c.380G= (p.Arg127=)
c.347G= (p.Arg116=)
18g.3457459G>TCA401723316TGIF1c.278G>T (p.Arg93Leu)
c.338G>T (p.Arg113Leu)
c.725G>T (p.Arg242Leu)
c.*51G>T (n.*51G>T)
c.380G>T (p.Arg127Leu)
c.347G>T (p.Arg116Leu)
18g.3457460T>ACA502810406TGIF1c.279T>A (p.Arg93=)
c.339T>A (p.Arg113=)
c.726T>A (p.Arg242=)
c.*52T>A (n.*52T>A)
c.381T>A (p.Arg127=)
c.348T>A (p.Arg116=)
18g.3457460T>CCA502810407TGIF1c.279T>C (p.Arg93=)
c.339T>C (p.Arg113=)
c.726T>C (p.Arg242=)
c.*52T>C (n.*52T>C)
c.381T>C (p.Arg127=)
c.348T>C (p.Arg116=)
gnomAD v4
18g.3457460T>GCA502810408TGIF1c.279T>G (p.Arg93=)
c.339T>G (p.Arg113=)
c.726T>G (p.Arg242=)
c.*52T>G (n.*52T>G)
c.381T>G (p.Arg127=)
c.348T>G (p.Arg116=)
18g.3457461G>ACA401723317TGIF1c.280G>A (p.Gly94Arg)
c.340G>A (p.Gly114Arg)
c.727G>A (p.Gly243Arg)
c.*53G>A (n.*53G>A)
c.382G>A (p.Gly128Arg)
c.349G>A (p.Gly117Arg)
18g.3457461G>CCA401723319TGIF1c.280G>C (p.Gly94Arg)
c.340G>C (p.Gly114Arg)
c.727G>C (p.Gly243Arg)
c.*53G>C (n.*53G>C)
c.382G>C (p.Gly128Arg)
c.349G>C (p.Gly117Arg)
18g.3457461G>TCA401723318TGIF1c.280G>T (p.Gly94Trp)
c.340G>T (p.Gly114Trp)
c.727G>T (p.Gly243Trp)
c.*53G>T (n.*53G>T)
c.382G>T (p.Gly128Trp)
c.349G>T (p.Gly117Trp)
18g.3457462G>ACA401723320TGIF1c.281G>A (p.Gly94Glu)
c.341G>A (p.Gly114Glu)
c.728G>A (p.Gly243Glu)
c.*54G>A (n.*54G>A)
c.383G>A (p.Gly128Glu)
c.350G>A (p.Gly117Glu)
18g.3457462G>CCA401723322TGIF1c.281G>C (p.Gly94Ala)
c.341G>C (p.Gly114Ala)
c.728G>C (p.Gly243Ala)
c.*54G>C (n.*54G>C)
c.383G>C (p.Gly128Ala)
c.350G>C (p.Gly117Ala)
gnomAD v4
18g.3457462G>TCA401723321TGIF1c.281G>T (p.Gly94Val)
c.341G>T (p.Gly114Val)
c.728G>T (p.Gly243Val)
c.*54G>T (n.*54G>T)
c.383G>T (p.Gly128Val)
c.350G>T (p.Gly117Val)
18g.3457463G>ACA502810409TGIF1c.282G>A (p.Gly94=)
c.342G>A (p.Gly114=)
c.729G>A (p.Gly243=)
c.*55G>A (n.*55G>A)
c.384G>A (p.Gly128=)
c.351G>A (p.Gly117=)
18g.3457463G>CCA502810411TGIF1c.282G>C (p.Gly94=)
c.342G>C (p.Gly114=)
c.729G>C (p.Gly243=)
c.*55G>C (n.*55G>C)
c.384G>C (p.Gly128=)
c.351G>C (p.Gly117=)
18g.3457463G>TCA502810412TGIF1c.282G>T (p.Gly94=)
c.342G>T (p.Gly114=)
c.729G>T (p.Gly243=)
c.*55G>T (n.*55G>T)
c.384G>T (p.Gly128=)
c.351G>T (p.Gly117=)
18g.3457464G>ACA295567033TGIF1c.283G>A (p.Ala95Thr)
c.343G>A (p.Ala115Thr)
c.730G>A (p.Ala244Thr)
c.*56G>A (n.*56G>A)
c.385G>A (p.Ala129Thr)
c.352G>A (p.Ala118Thr)
dbSNP gnomAD v4
18g.3457464G>CCA401723323TGIF1c.283G>C (p.Ala95Pro)
c.343G>C (p.Ala115Pro)
c.730G>C (p.Ala244Pro)
c.*56G>C (n.*56G>C)
c.385G>C (p.Ala129Pro)
c.352G>C (p.Ala118Pro)
18g.3457464G=CA2281035529TGIF1c.283G= (p.Ala95=)
c.343G= (p.Ala115=)
c.730G= (p.Ala244=)
c.*56G= (n.*56G=)
c.385G= (p.Ala129=)
c.352G= (p.Ala118=)
18g.3457464G>TCA401723324TGIF1c.283G>T (p.Ala95Ser)
c.343G>T (p.Ala115Ser)
c.730G>T (p.Ala244Ser)
c.*56G>T (n.*56G>T)
c.385G>T (p.Ala129Ser)
c.352G>T (p.Ala118Ser)
18g.3457465C>ACA401723325TGIF1c.284C>A (p.Ala95Asp)
c.344C>A (p.Ala115Asp)
c.731C>A (p.Ala244Asp)
c.*57C>A (n.*57C>A)
c.386C>A (p.Ala129Asp)
c.353C>A (p.Ala118Asp)
dbSNP
18g.3457465C=CA2281035530TGIF1c.284C= (p.Ala95=)
c.344C= (p.Ala115=)
c.731C= (p.Ala244=)
c.*57C= (n.*57C=)
c.386C= (p.Ala129=)
c.353C= (p.Ala118=)
18g.3457465C>GCA401723326TGIF1c.284C>G (p.Ala95Gly)
c.344C>G (p.Ala115Gly)
c.731C>G (p.Ala244Gly)
c.*57C>G (n.*57C>G)
c.386C>G (p.Ala129Gly)
c.353C>G (p.Ala118Gly)
dbSNP gnomAD v2 gnomAD v4
18g.3457465C>TCA401723327TGIF1c.284C>T (p.Ala95Val)
c.344C>T (p.Ala115Val)
c.731C>T (p.Ala244Val)
c.*57C>T (n.*57C>T)
c.386C>T (p.Ala129Val)
c.353C>T (p.Ala118Val)
gnomAD v4
18g.3457466C>ACA8875936TGIF1c.285C>A (p.Ala95=)
c.345C>A (p.Ala115=)
c.732C>A (p.Ala244=)
c.*58C>A (n.*58C>A)
c.387C>A (p.Ala129=)
c.354C>A (p.Ala118=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457466C=CA2281035531TGIF1c.285C= (p.Ala95=)
c.345C= (p.Ala115=)
c.732C= (p.Ala244=)
c.*58C= (n.*58C=)
c.387C= (p.Ala129=)
c.354C= (p.Ala118=)
18g.3457466C>GCA502810413TGIF1c.285C>G (p.Ala95=)
c.345C>G (p.Ala115=)
c.732C>G (p.Ala244=)
c.*58C>G (n.*58C>G)
c.387C>G (p.Ala129=)
c.354C>G (p.Ala118=)
18g.3457466C>TCA502810414TGIF1c.285C>T (p.Ala95=)
c.345C>T (p.Ala115=)
c.732C>T (p.Ala244=)
c.*58C>T (n.*58C>T)
c.387C>T (p.Ala129=)
c.354C>T (p.Ala118=)
18g.3457467A=CA2281035532TGIF1c.286A= (p.Lys96=)
c.346A= (p.Lys116=)
c.733A= (p.Lys245=)
c.*59A= (n.*59A=)
c.388A= (p.Lys130=)
c.355A= (p.Lys119=)
18g.3457467A>CCA401723328TGIF1c.286A>C (p.Lys96Gln)
c.346A>C (p.Lys116Gln)
c.733A>C (p.Lys245Gln)
c.*59A>C (n.*59A>C)
c.388A>C (p.Lys130Gln)
c.355A>C (p.Lys119Gln)
18g.3457467A>GCA8875937TGIF1c.286A>G (p.Lys96Glu)
c.346A>G (p.Lys116Glu)
c.733A>G (p.Lys245Glu)
c.*59A>G (n.*59A>G)
c.388A>G (p.Lys130Glu)
c.355A>G (p.Lys119Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457467A>TCA401723329TGIF1c.286A>T (p.Lys96Ter)
c.346A>T (p.Lys116Ter)
c.733A>T (p.Lys245Ter)
c.*59A>T (n.*59A>T)
c.388A>T (p.Lys130Ter)
c.355A>T (p.Lys119Ter)
18g.3457468A=CA2281035533TGIF1c.287A= (p.Lys96=)
c.347A= (p.Lys116=)
c.734A= (p.Lys245=)
c.*60A= (n.*60A=)
c.389A= (p.Lys130=)
c.356A= (p.Lys119=)
18g.3457468A>CCA401723330TGIF1c.287A>C (p.Lys96Thr)
c.347A>C (p.Lys116Thr)
c.734A>C (p.Lys245Thr)
c.*60A>C (n.*60A>C)
c.389A>C (p.Lys130Thr)
c.356A>C (p.Lys119Thr)
18g.3457468A>GCA401723331TGIF1c.287A>G (p.Lys96Arg)
c.347A>G (p.Lys116Arg)
c.734A>G (p.Lys245Arg)
c.*60A>G (n.*60A>G)
c.389A>G (p.Lys130Arg)
c.356A>G (p.Lys119Arg)
dbSNP
18g.3457468A>TCA401723332TGIF1c.287A>T (p.Lys96Met)
c.347A>T (p.Lys116Met)
c.734A>T (p.Lys245Met)
c.*60A>T (n.*60A>T)
c.389A>T (p.Lys130Met)
c.356A>T (p.Lys119Met)
18g.3457469G>ACA502810417TGIF1c.288G>A (p.Lys96=)
c.348G>A (p.Lys116=)
c.735G>A (p.Lys245=)
c.*61G>A (n.*61G>A)
c.390G>A (p.Lys130=)
c.357G>A (p.Lys119=)
18g.3457469G>CCA401723334TGIF1c.288G>C (p.Lys96Asn)
c.348G>C (p.Lys116Asn)
c.735G>C (p.Lys245Asn)
c.*61G>C (n.*61G>C)
c.390G>C (p.Lys130Asn)
c.357G>C (p.Lys119Asn)
18g.3457469G>TCA401723333TGIF1c.288G>T (p.Lys96Asn)
c.348G>T (p.Lys116Asn)
c.735G>T (p.Lys245Asn)
c.*61G>T (n.*61G>T)
c.390G>T (p.Lys130Asn)
c.357G>T (p.Lys119Asn)
gnomAD v4
18g.3457470A>CCA401723335TGIF1c.289A>C (p.Ile97Leu)
c.349A>C (p.Ile117Leu)
c.736A>C (p.Ile246Leu)
c.*62A>C (n.*62A>C)
c.391A>C (p.Ile131Leu)
c.358A>C (p.Ile120Leu)
18g.3457470A>GCA401723336TGIF1c.289A>G (p.Ile97Val)
c.349A>G (p.Ile117Val)
c.736A>G (p.Ile246Val)
c.*62A>G (n.*62A>G)
c.391A>G (p.Ile131Val)
c.358A>G (p.Ile120Val)
18g.3457470A>TCA401723337TGIF1c.289A>T (p.Ile97Phe)
c.349A>T (p.Ile117Phe)
c.736A>T (p.Ile246Phe)
c.*62A>T (n.*62A>T)
c.391A>T (p.Ile131Phe)
c.358A>T (p.Ile120Phe)
18g.3457471T>ACA401723338TGIF1c.290T>A (p.Ile97Asn)
c.350T>A (p.Ile117Asn)
c.737T>A (p.Ile246Asn)
c.*63T>A (n.*63T>A)
c.392T>A (p.Ile131Asn)
c.359T>A (p.Ile120Asn)
18g.3457471T>CCA401723339TGIF1c.290T>C (p.Ile97Thr)
c.350T>C (p.Ile117Thr)
c.737T>C (p.Ile246Thr)
c.*63T>C (n.*63T>C)
c.392T>C (p.Ile131Thr)
c.359T>C (p.Ile120Thr)
dbSNP gnomAD v4
18g.3457471T>GCA401723340TGIF1c.290T>G (p.Ile97Ser)
c.350T>G (p.Ile117Ser)
c.737T>G (p.Ile246Ser)
c.*63T>G (n.*63T>G)
c.392T>G (p.Ile131Ser)
c.359T>G (p.Ile120Ser)
18g.3457471T=CA2281035534TGIF1c.290T= (p.Ile97=)
c.350T= (p.Ile117=)
c.737T= (p.Ile246=)
c.*63T= (n.*63T=)
c.392T= (p.Ile131=)
c.359T= (p.Ile120=)
18g.3457472T>ACA502810418TGIF1c.291T>A (p.Ile97=)
c.351T>A (p.Ile117=)
c.738T>A (p.Ile246=)
c.*64T>A (n.*64T>A)
c.393T>A (p.Ile131=)
c.360T>A (p.Ile120=)
18g.3457472T>CCA502810419TGIF1c.291T>C (p.Ile97=)
c.351T>C (p.Ile117=)
c.738T>C (p.Ile246=)
c.*64T>C (n.*64T>C)
c.393T>C (p.Ile131=)
c.360T>C (p.Ile120=)
18g.3457472T>GCA401723341TGIF1c.291T>G (p.Ile97Met)
c.351T>G (p.Ile117Met)
c.738T>G (p.Ile246Met)
c.*64T>G (n.*64T>G)
c.393T>G (p.Ile131Met)
c.360T>G (p.Ile120Met)
18g.3457473T>ACA401723342TGIF1c.292T>A (p.Ser98Thr)
c.352T>A (p.Ser118Thr)
c.739T>A (p.Ser247Thr)
c.*65T>A (n.*65T>A)
c.394T>A (p.Ser132Thr)
c.361T>A (p.Ser121Thr)
18g.3457473T>CCA401723343TGIF1c.292T>C (p.Ser98Pro)
c.352T>C (p.Ser118Pro)
c.739T>C (p.Ser247Pro)
c.*65T>C (n.*65T>C)
c.394T>C (p.Ser132Pro)
c.361T>C (p.Ser121Pro)
18g.3457473T>GCA401723344TGIF1c.292T>G (p.Ser98Ala)
c.352T>G (p.Ser118Ala)
c.739T>G (p.Ser247Ala)
c.*65T>G (n.*65T>G)
c.394T>G (p.Ser132Ala)
c.361T>G (p.Ser121Ala)
18g.3457474C>ACA401723345TGIF1c.293C>A (p.Ser98Tyr)
c.353C>A (p.Ser118Tyr)
c.740C>A (p.Ser247Tyr)
c.*66C>A (n.*66C>A)
c.395C>A (p.Ser132Tyr)
c.362C>A (p.Ser121Tyr)
18g.3457474C>GCA401723346TGIF1c.293C>G (p.Ser98Cys)
c.353C>G (p.Ser118Cys)
c.740C>G (p.Ser247Cys)
c.*66C>G (n.*66C>G)
c.395C>G (p.Ser132Cys)
c.362C>G (p.Ser121Cys)
18g.3457474C>TCA401723347TGIF1c.293C>T (p.Ser98Phe)
c.353C>T (p.Ser118Phe)
c.740C>T (p.Ser247Phe)
c.*66C>T (n.*66C>T)
c.395C>T (p.Ser132Phe)
c.362C>T (p.Ser121Phe)
18g.3457475T>ACA502810421TGIF1c.294T>A (p.Ser98=)
c.354T>A (p.Ser118=)
c.741T>A (p.Ser247=)
c.*67T>A (n.*67T>A)
c.396T>A (p.Ser132=)
c.363T>A (p.Ser121=)
18g.3457475T>CCA502810422TGIF1c.294T>C (p.Ser98=)
c.354T>C (p.Ser118=)
c.741T>C (p.Ser247=)
c.*67T>C (n.*67T>C)
c.396T>C (p.Ser132=)
c.363T>C (p.Ser121=)
18g.3457475T>GCA502810423TGIF1c.294T>G (p.Ser98=)
c.354T>G (p.Ser118=)
c.741T>G (p.Ser247=)
c.*67T>G (n.*67T>G)
c.396T>G (p.Ser132=)
c.363T>G (p.Ser121=)
18g.3457476G>ACA295567054TGIF1c.295G>A (p.Glu99Lys)
c.355G>A (p.Glu119Lys)
c.742G>A (p.Glu248Lys)
c.*68G>A (n.*68G>A)
c.397G>A (p.Glu133Lys)
c.364G>A (p.Glu122Lys)
dbSNP
18g.3457476G>CCA401723349TGIF1c.295G>C (p.Glu99Gln)
c.355G>C (p.Glu119Gln)
c.742G>C (p.Glu248Gln)
c.*68G>C (n.*68G>C)
c.397G>C (p.Glu133Gln)
c.364G>C (p.Glu122Gln)
dbSNP gnomAD v3 gnomAD v4
18g.3457476G=CA2281035535TGIF1c.295G= (p.Glu99=)
c.355G= (p.Glu119=)
c.742G= (p.Glu248=)
c.*68G= (n.*68G=)
c.397G= (p.Glu133=)
c.364G= (p.Glu122=)
18g.3457476G>TCA401723348TGIF1c.295G>T (p.Glu99Ter)
c.355G>T (p.Glu119Ter)
c.742G>T (p.Glu248Ter)
c.*68G>T (n.*68G>T)
c.397G>T (p.Glu133Ter)
c.364G>T (p.Glu122Ter)
18g.3457477A>CCA401723350TGIF1c.296A>C (p.Glu99Ala)
c.356A>C (p.Glu119Ala)
c.743A>C (p.Glu248Ala)
c.*69A>C (n.*69A>C)
c.398A>C (p.Glu133Ala)
c.365A>C (p.Glu122Ala)
18g.3457477A>GCA401723351TGIF1c.296A>G (p.Glu99Gly)
c.356A>G (p.Glu119Gly)
c.743A>G (p.Glu248Gly)
c.*69A>G (n.*69A>G)
c.398A>G (p.Glu133Gly)
c.365A>G (p.Glu122Gly)
18g.3457477A>TCA401723352TGIF1c.296A>T (p.Glu99Val)
c.356A>T (p.Glu119Val)
c.743A>T (p.Glu248Val)
c.*69A>T (n.*69A>T)
c.398A>T (p.Glu133Val)
c.365A>T (p.Glu122Val)
18g.3457478A>CCA401723353TGIF1c.297A>C (p.Glu99Asp)
c.357A>C (p.Glu119Asp)
c.744A>C (p.Glu248Asp)
c.*70A>C (n.*70A>C)
c.399A>C (p.Glu133Asp)
c.366A>C (p.Glu122Asp)
18g.3457478A>GCA502810427TGIF1c.297A>G (p.Glu99=)
c.357A>G (p.Glu119=)
c.744A>G (p.Glu248=)
c.*70A>G (n.*70A>G)
c.399A>G (p.Glu133=)
c.366A>G (p.Glu122=)
18g.3457478A>TCA401723354TGIF1c.297A>T (p.Glu99Asp)
c.357A>T (p.Glu119Asp)
c.744A>T (p.Glu248Asp)
c.*70A>T (n.*70A>T)
c.399A>T (p.Glu133Asp)
c.366A>T (p.Glu122Asp)
18g.3457479A>CCA401723355TGIF1c.298A>C (p.Thr100Pro)
c.358A>C (p.Thr120Pro)
c.745A>C (p.Thr249Pro)
c.*71A>C (n.*71A>C)
c.400A>C (p.Thr134Pro)
c.367A>C (p.Thr123Pro)
18g.3457479A>GCA401723356TGIF1c.298A>G (p.Thr100Ala)
c.358A>G (p.Thr120Ala)
c.745A>G (p.Thr249Ala)
c.*71A>G (n.*71A>G)
c.400A>G (p.Thr134Ala)
c.367A>G (p.Thr123Ala)
gnomAD v4
18g.3457479A>TCA401723357TGIF1c.298A>T (p.Thr100Ser)
c.358A>T (p.Thr120Ser)
c.745A>T (p.Thr249Ser)
c.*71A>T (n.*71A>T)
c.400A>T (p.Thr134Ser)
c.367A>T (p.Thr123Ser)
18g.3457480C>ACA401723358TGIF1c.299C>A (p.Thr100Lys)
c.359C>A (p.Thr120Lys)
c.746C>A (p.Thr249Lys)
c.*72C>A (n.*72C>A)
c.401C>A (p.Thr134Lys)
c.368C>A (p.Thr123Lys)
18g.3457480C=CA2281035536TGIF1c.299C= (p.Thr100=)
c.359C= (p.Thr120=)
c.746C= (p.Thr249=)
c.*72C= (n.*72C=)
c.401C= (p.Thr134=)
c.368C= (p.Thr123=)
18g.3457480C>GCA401723359TGIF1c.299C>G (p.Thr100Arg)
c.359C>G (p.Thr120Arg)
c.746C>G (p.Thr249Arg)
c.*72C>G (n.*72C>G)
c.401C>G (p.Thr134Arg)
c.368C>G (p.Thr123Arg)
18g.3457480C>TCA8875938TGIF1c.299C>T (p.Thr100Met)
c.359C>T (p.Thr120Met)
c.746C>T (p.Thr249Met)
c.*72C>T (n.*72C>T)
c.401C>T (p.Thr134Met)
c.368C>T (p.Thr123Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457481G>ACA8875939TGIF1c.300G>A (p.Thr100=)
c.360G>A (p.Thr120=)
c.747G>A (p.Thr249=)
c.*73G>A (n.*73G>A)
c.402G>A (p.Thr134=)
c.369G>A (p.Thr123=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457481G>CCA502810429TGIF1c.300G>C (p.Thr100=)
c.360G>C (p.Thr120=)
c.747G>C (p.Thr249=)
c.*73G>C (n.*73G>C)
c.402G>C (p.Thr134=)
c.369G>C (p.Thr123=)
gnomAD v4
18g.3457481G=CA2281035537TGIF1c.300G= (p.Thr100=)
c.360G= (p.Thr120=)
c.747G= (p.Thr249=)
c.*73G= (n.*73G=)
c.402G= (p.Thr134=)
c.369G= (p.Thr123=)
18g.3457481G>TCA502810430TGIF1c.300G>T (p.Thr100=)
c.360G>T (p.Thr120=)
c.747G>T (p.Thr249=)
c.*73G>T (n.*73G>T)
c.402G>T (p.Thr134=)
c.369G>T (p.Thr123=)
18g.3457482A>CCA401723362TGIF1c.301A>C (p.Ser101Arg)
c.361A>C (p.Ser121Arg)
c.748A>C (p.Ser250Arg)
c.*74A>C (n.*74A>C)
c.403A>C (p.Ser135Arg)
c.370A>C (p.Ser124Arg)
18g.3457482A>GCA401723360TGIF1c.301A>G (p.Ser101Gly)
c.361A>G (p.Ser121Gly)
c.748A>G (p.Ser250Gly)
c.*74A>G (n.*74A>G)
c.403A>G (p.Ser135Gly)
c.370A>G (p.Ser124Gly)
18g.3457482A>TCA401723361TGIF1c.301A>T (p.Ser101Cys)
c.361A>T (p.Ser121Cys)
c.748A>T (p.Ser250Cys)
c.*74A>T (n.*74A>T)
c.403A>T (p.Ser135Cys)
c.370A>T (p.Ser124Cys)
18g.3457483G>ACA401723363TGIF1c.302G>A (p.Ser101Asn)
c.362G>A (p.Ser121Asn)
c.749G>A (p.Ser250Asn)
c.*75G>A (n.*75G>A)
c.404G>A (p.Ser135Asn)
c.371G>A (p.Ser124Asn)
18g.3457483G>CCA401723364TGIF1c.302G>C (p.Ser101Thr)
c.362G>C (p.Ser121Thr)
c.749G>C (p.Ser250Thr)
c.*75G>C (n.*75G>C)
c.404G>C (p.Ser135Thr)
c.371G>C (p.Ser124Thr)
18g.3457483G>TCA401723365TGIF1c.302G>T (p.Ser101Ile)
c.362G>T (p.Ser121Ile)
c.749G>T (p.Ser250Ile)
c.*75G>T (n.*75G>T)
c.404G>T (p.Ser135Ile)
c.371G>T (p.Ser124Ile)
18g.3457484C>ACA401723366TGIF1c.303C>A (p.Ser101Arg)
c.363C>A (p.Ser121Arg)
c.750C>A (p.Ser250Arg)
c.*76C>A (n.*76C>A)
c.405C>A (p.Ser135Arg)
c.372C>A (p.Ser124Arg)
18g.3457484C>GCA401723367TGIF1c.303C>G (p.Ser101Arg)
c.363C>G (p.Ser121Arg)
c.750C>G (p.Ser250Arg)
c.*76C>G (n.*76C>G)
c.405C>G (p.Ser135Arg)
c.372C>G (p.Ser124Arg)
gnomAD v4
18g.3457484C>TCA502810432TGIF1c.303C>T (p.Ser101=)
c.363C>T (p.Ser121=)
c.750C>T (p.Ser250=)
c.*76C>T (n.*76C>T)
c.405C>T (p.Ser135=)
c.372C>T (p.Ser124=)
18g.3457485T>ACA401723368TGIF1c.304T>A (p.Ser102Thr)
c.364T>A (p.Ser122Thr)
c.751T>A (p.Ser251Thr)
c.*77T>A (n.*77T>A)
c.406T>A (p.Ser136Thr)
c.373T>A (p.Ser125Thr)
18g.3457485T>CCA401723369TGIF1c.304T>C (p.Ser102Pro)
c.364T>C (p.Ser122Pro)
c.751T>C (p.Ser251Pro)
c.*77T>C (n.*77T>C)
c.406T>C (p.Ser136Pro)
c.373T>C (p.Ser125Pro)
18g.3457485T>GCA401723370TGIF1c.304T>G (p.Ser102Ala)
c.364T>G (p.Ser122Ala)
c.751T>G (p.Ser251Ala)
c.*77T>G (n.*77T>G)
c.406T>G (p.Ser136Ala)
c.373T>G (p.Ser125Ala)
18g.3457486C>ACA401723371TGIF1c.305C>A (p.Ser102Tyr)
c.365C>A (p.Ser122Tyr)
c.752C>A (p.Ser251Tyr)
c.*78C>A (n.*78C>A)
c.407C>A (p.Ser136Tyr)
c.374C>A (p.Ser125Tyr)
18g.3457486C>GCA401723372TGIF1c.305C>G (p.Ser102Cys)
c.365C>G (p.Ser122Cys)
c.752C>G (p.Ser251Cys)
c.*78C>G (n.*78C>G)
c.407C>G (p.Ser136Cys)
c.374C>G (p.Ser125Cys)
18g.3457486C>TCA401723373TGIF1c.305C>T (p.Ser102Phe)
c.365C>T (p.Ser122Phe)
c.752C>T (p.Ser251Phe)
c.*78C>T (n.*78C>T)
c.407C>T (p.Ser136Phe)
c.374C>T (p.Ser125Phe)
18g.3457487T>ACA502810433TGIF1c.306T>A (p.Ser102=)
c.366T>A (p.Ser122=)
c.753T>A (p.Ser251=)
c.*79T>A (n.*79T>A)
c.408T>A (p.Ser136=)
c.375T>A (p.Ser125=)
18g.3457487T>CCA502810435TGIF1c.306T>C (p.Ser102=)
c.366T>C (p.Ser122=)
c.753T>C (p.Ser251=)
c.*79T>C (n.*79T>C)
c.408T>C (p.Ser136=)
c.375T>C (p.Ser125=)
18g.3457487T>GCA502810436TGIF1c.306T>G (p.Ser102=)
c.366T>G (p.Ser122=)
c.753T>G (p.Ser251=)
c.*79T>G (n.*79T>G)
c.408T>G (p.Ser136=)
c.375T>G (p.Ser125=)
18g.3457488G>ACA401723375TGIF1c.307G>A (p.Val103Met)
c.367G>A (p.Val123Met)
c.754G>A (p.Val252Met)
c.*80G>A (n.*80G>A)
c.409G>A (p.Val137Met)
c.376G>A (p.Val126Met)
18g.3457488G>CCA401723376TGIF1c.307G>C (p.Val103Leu)
c.367G>C (p.Val123Leu)
c.754G>C (p.Val252Leu)
c.*80G>C (n.*80G>C)
c.409G>C (p.Val137Leu)
c.376G>C (p.Val126Leu)
gnomAD v4
18g.3457488G>TCA401723374TGIF1c.307G>T (p.Val103Leu)
c.367G>T (p.Val123Leu)
c.754G>T (p.Val252Leu)
c.*80G>T (n.*80G>T)
c.409G>T (p.Val137Leu)
c.376G>T (p.Val126Leu)
18g.3457489T>ACA401723379TGIF1c.308T>A (p.Val103Glu)
c.368T>A (p.Val123Glu)
c.755T>A (p.Val252Glu)
c.*81T>A (n.*81T>A)
c.410T>A (p.Val137Glu)
c.377T>A (p.Val126Glu)
18g.3457489T>CCA401723377TGIF1c.308T>C (p.Val103Ala)
c.368T>C (p.Val123Ala)
c.755T>C (p.Val252Ala)
c.*81T>C (n.*81T>C)
c.410T>C (p.Val137Ala)
c.377T>C (p.Val126Ala)
18g.3457489T>GCA401723378TGIF1c.308T>G (p.Val103Gly)
c.368T>G (p.Val123Gly)
c.755T>G (p.Val252Gly)
c.*81T>G (n.*81T>G)
c.410T>G (p.Val137Gly)
c.377T>G (p.Val126Gly)
dbSNP gnomAD v2 gnomAD v4
18g.3457489T=CA2281035538TGIF1c.308T= (p.Val103=)
c.368T= (p.Val123=)
c.755T= (p.Val252=)
c.*81T= (n.*81T=)
c.410T= (p.Val137=)
c.377T= (p.Val126=)

Number of alleles fetched