Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.3457479_3457482delCA2847552258TGIF1c.298_301del (p.Thr100AlafsTer6)
c.358_361del (p.Thr120AlafsTer6)
c.745_748del (p.Thr249AlafsTer6)
c.*71_*74del (n.*71_*74del)
c.400_403del (p.Thr134AlafsTer6)
c.367_370del (p.Thr123AlafsTer6)
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=)
18g.3457490G>ACA502810440TGIF1c.309G>A (p.Val103=)
c.369G>A (p.Val123=)
c.756G>A (p.Val252=)
c.*82G>A (n.*82G>A)
c.411G>A (p.Val137=)
c.378G>A (p.Val126=)
18g.3457490G>CCA502810441TGIF1c.309G>C (p.Val103=)
c.369G>C (p.Val123=)
c.756G>C (p.Val252=)
c.*82G>C (n.*82G>C)
c.411G>C (p.Val137=)
c.378G>C (p.Val126=)
18g.3457490G>TCA502810442TGIF1c.309G>T (p.Val103=)
c.369G>T (p.Val123=)
c.756G>T (p.Val252=)
c.*82G>T (n.*82G>T)
c.411G>T (p.Val137=)
c.378G>T (p.Val126=)
18g.3457491G>ACA401723380TGIF1c.310G>A (p.Glu104Lys)
c.370G>A (p.Glu124Lys)
c.757G>A (p.Glu253Lys)
c.*83G>A (n.*83G>A)
c.412G>A (p.Glu138Lys)
c.379G>A (p.Glu127Lys)
18g.3457491G>CCA401723381TGIF1c.310G>C (p.Glu104Gln)
c.370G>C (p.Glu124Gln)
c.757G>C (p.Glu253Gln)
c.*83G>C (n.*83G>C)
c.412G>C (p.Glu138Gln)
c.379G>C (p.Glu127Gln)
18g.3457491G>TCA401723382TGIF1c.310G>T (p.Glu104Ter)
c.370G>T (p.Glu124Ter)
c.757G>T (p.Glu253Ter)
c.*83G>T (n.*83G>T)
c.412G>T (p.Glu138Ter)
c.379G>T (p.Glu127Ter)
18g.3457492A>CCA401723383TGIF1c.311A>C (p.Glu104Ala)
c.371A>C (p.Glu124Ala)
c.758A>C (p.Glu253Ala)
c.*84A>C (n.*84A>C)
c.413A>C (p.Glu138Ala)
c.380A>C (p.Glu127Ala)
18g.3457492A>GCA401723384TGIF1c.311A>G (p.Glu104Gly)
c.371A>G (p.Glu124Gly)
c.758A>G (p.Glu253Gly)
c.*84A>G (n.*84A>G)
c.413A>G (p.Glu138Gly)
c.380A>G (p.Glu127Gly)
18g.3457492A>TCA401723385TGIF1c.311A>T (p.Glu104Val)
c.371A>T (p.Glu124Val)
c.758A>T (p.Glu253Val)
c.*84A>T (n.*84A>T)
c.413A>T (p.Glu138Val)
c.380A>T (p.Glu127Val)
18g.3457493G>ACA502810443TGIF1c.312G>A (p.Glu104=)
c.372G>A (p.Glu124=)
c.759G>A (p.Glu253=)
c.*85G>A (n.*85G>A)
c.414G>A (p.Glu138=)
c.381G>A (p.Glu127=)
18g.3457493G>CCA401723386TGIF1c.312G>C (p.Glu104Asp)
c.372G>C (p.Glu124Asp)
c.759G>C (p.Glu253Asp)
c.*85G>C (n.*85G>C)
c.414G>C (p.Glu138Asp)
c.381G>C (p.Glu127Asp)
18g.3457493G>TCA401723387TGIF1c.312G>T (p.Glu104Asp)
c.372G>T (p.Glu124Asp)
c.759G>T (p.Glu253Asp)
c.*85G>T (n.*85G>T)
c.414G>T (p.Glu138Asp)
c.381G>T (p.Glu127Asp)
18g.3457494T>ACA401723388TGIF1c.313T>A (p.Ser105Thr)
c.373T>A (p.Ser125Thr)
c.760T>A (p.Ser254Thr)
c.*86T>A (n.*86T>A)
c.415T>A (p.Ser139Thr)
c.382T>A (p.Ser128Thr)
18g.3457494T>CCA401723389TGIF1c.313T>C (p.Ser105Pro)
c.373T>C (p.Ser125Pro)
c.760T>C (p.Ser254Pro)
c.*86T>C (n.*86T>C)
c.415T>C (p.Ser139Pro)
c.382T>C (p.Ser128Pro)
dbSNP gnomAD v2 gnomAD v4
18g.3457494T>GCA401723390TGIF1c.313T>G (p.Ser105Ala)
c.373T>G (p.Ser125Ala)
c.760T>G (p.Ser254Ala)
c.*86T>G (n.*86T>G)
c.415T>G (p.Ser139Ala)
c.382T>G (p.Ser128Ala)
gnomAD v4
18g.3457494T=CA2281035539TGIF1c.313T= (p.Ser105=)
c.373T= (p.Ser125=)
c.760T= (p.Ser254=)
c.*86T= (n.*86T=)
c.415T= (p.Ser139=)
c.382T= (p.Ser128=)
18g.3457495C>ACA401723391TGIF1c.314C>A (p.Ser105Tyr)
c.374C>A (p.Ser125Tyr)
c.761C>A (p.Ser254Tyr)
c.*87C>A (n.*87C>A)
c.416C>A (p.Ser139Tyr)
c.383C>A (p.Ser128Tyr)
18g.3457495C>GCA401723393TGIF1c.314C>G (p.Ser105Cys)
c.374C>G (p.Ser125Cys)
c.761C>G (p.Ser254Cys)
c.*87C>G (n.*87C>G)
c.416C>G (p.Ser139Cys)
c.383C>G (p.Ser128Cys)
gnomAD v4
18g.3457495C>TCA401723392TGIF1c.314C>T (p.Ser105Phe)
c.374C>T (p.Ser125Phe)
c.761C>T (p.Ser254Phe)
c.*87C>T (n.*87C>T)
c.416C>T (p.Ser139Phe)
c.383C>T (p.Ser128Phe)
18g.3457496C>ACA502810447TGIF1c.315C>A (p.Ser105=)
c.375C>A (p.Ser125=)
c.762C>A (p.Ser254=)
c.*88C>A (n.*88C>A)
c.417C>A (p.Ser139=)
c.384C>A (p.Ser128=)
gnomAD v4
18g.3457496C=CA2281035540TGIF1c.315C= (p.Ser105=)
c.375C= (p.Ser125=)
c.762C= (p.Ser254=)
c.*88C= (n.*88C=)
c.417C= (p.Ser139=)
c.384C= (p.Ser128=)
18g.3457496C>GCA502810448TGIF1c.315C>G (p.Ser105=)
c.375C>G (p.Ser125=)
c.762C>G (p.Ser254=)
c.*88C>G (n.*88C>G)
c.417C>G (p.Ser139=)
c.384C>G (p.Ser128=)
18g.3457496C>TCA8875940TGIF1c.315C>T (p.Ser105=)
c.375C>T (p.Ser125=)
c.762C>T (p.Ser254=)
c.*88C>T (n.*88C>T)
c.417C>T (p.Ser139=)
c.384C>T (p.Ser128=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457497G>ACA8875941TGIF1c.316G>A (p.Val106Met)
c.376G>A (p.Val126Met)
c.763G>A (p.Val255Met)
c.*89G>A (n.*89G>A)
c.418G>A (p.Val140Met)
c.385G>A (p.Val129Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457497G>CCA401723394TGIF1c.316G>C (p.Val106Leu)
c.376G>C (p.Val126Leu)
c.763G>C (p.Val255Leu)
c.*89G>C (n.*89G>C)
c.418G>C (p.Val140Leu)
c.385G>C (p.Val129Leu)
18g.3457497G=CA2281035541TGIF1c.316G= (p.Val106=)
c.376G= (p.Val126=)
c.763G= (p.Val255=)
c.*89G= (n.*89G=)
c.418G= (p.Val140=)
c.385G= (p.Val129=)
18g.3457497G>TCA401723395TGIF1c.316G>T (p.Val106Leu)
c.376G>T (p.Val126Leu)
c.763G>T (p.Val255Leu)
c.*89G>T (n.*89G>T)
c.418G>T (p.Val140Leu)
c.385G>T (p.Val129Leu)
18g.3457498T>ACA401723396TGIF1c.317T>A (p.Val106Glu)
c.377T>A (p.Val126Glu)
c.764T>A (p.Val255Glu)
c.*90T>A (n.*90T>A)
c.419T>A (p.Val140Glu)
c.386T>A (p.Val129Glu)
18g.3457498T>CCA8875942TGIF1c.317T>C (p.Val106Ala)
c.377T>C (p.Val126Ala)
c.764T>C (p.Val255Ala)
c.*90T>C (n.*90T>C)
c.419T>C (p.Val140Ala)
c.386T>C (p.Val129Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3457498T>GCA401723397TGIF1c.317T>G (p.Val106Gly)
c.377T>G (p.Val126Gly)
c.764T>G (p.Val255Gly)
c.*90T>G (n.*90T>G)
c.419T>G (p.Val140Gly)
c.386T>G (p.Val129Gly)
18g.3457498T=CA2281035542TGIF1c.317T= (p.Val106=)
c.377T= (p.Val126=)
c.764T= (p.Val255=)
c.*90T= (n.*90T=)
c.419T= (p.Val140=)
c.386T= (p.Val129=)
18g.3457499G>ACA8875943TGIF1c.318G>A (p.Val106=)
c.378G>A (p.Val126=)
c.765G>A (p.Val255=)
c.*91G>A (n.*91G>A)
c.420G>A (p.Val140=)
c.387G>A (p.Val129=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457499G>CCA502810452TGIF1c.318G>C (p.Val106=)
c.378G>C (p.Val126=)
c.765G>C (p.Val255=)
c.*91G>C (n.*91G>C)
c.420G>C (p.Val140=)
c.387G>C (p.Val129=)
18g.3457499G=CA2281035543TGIF1c.318G= (p.Val106=)
c.378G= (p.Val126=)
c.765G= (p.Val255=)
c.*91G= (n.*91G=)
c.420G= (p.Val140=)
c.387G= (p.Val129=)
18g.3457499G>TCA502810453TGIF1c.318G>T (p.Val106=)
c.378G>T (p.Val126=)
c.765G>T (p.Val255=)
c.*91G>T (n.*91G>T)
c.420G>T (p.Val140=)
c.387G>T (p.Val129=)
18g.3457500A=CA2281035544TGIF1c.319A= (p.Met107=)
c.379A= (p.Met127=)
c.766A= (p.Met256=)
c.*92A= (n.*92A=)
c.421A= (p.Met141=)
c.388A= (p.Met130=)
18g.3457500A>CCA401723398TGIF1c.319A>C (p.Met107Leu)
c.379A>C (p.Met127Leu)
c.766A>C (p.Met256Leu)
c.*92A>C (n.*92A>C)
c.421A>C (p.Met141Leu)
c.388A>C (p.Met130Leu)
18g.3457500A>GCA401723399TGIF1c.319A>G (p.Met107Val)
c.379A>G (p.Met127Val)
c.766A>G (p.Met256Val)
c.*92A>G (n.*92A>G)
c.421A>G (p.Met141Val)
c.388A>G (p.Met130Val)
dbSNP
18g.3457500A>TCA401723400TGIF1c.319A>T (p.Met107Leu)
c.379A>T (p.Met127Leu)
c.766A>T (p.Met256Leu)
c.*92A>T (n.*92A>T)
c.421A>T (p.Met141Leu)
c.388A>T (p.Met130Leu)
18g.3457501T>ACA401723402TGIF1c.320T>A (p.Met107Lys)
c.380T>A (p.Met127Lys)
c.767T>A (p.Met256Lys)
c.*93T>A (n.*93T>A)
c.422T>A (p.Met141Lys)
c.389T>A (p.Met130Lys)
18g.3457501T>CCA401723403TGIF1c.320T>C (p.Met107Thr)
c.380T>C (p.Met127Thr)
c.767T>C (p.Met256Thr)
c.*93T>C (n.*93T>C)
c.422T>C (p.Met141Thr)
c.389T>C (p.Met130Thr)
ClinVar gnomAD v4
18g.3457501T>GCA401723401TGIF1c.320T>G (p.Met107Arg)
c.380T>G (p.Met127Arg)
c.767T>G (p.Met256Arg)
c.*93T>G (n.*93T>G)
c.422T>G (p.Met141Arg)
c.389T>G (p.Met130Arg)
18g.3457502G>ACA401723404TGIF1c.321G>A (p.Met107Ile)
c.381G>A (p.Met127Ile)
c.768G>A (p.Met256Ile)
c.*94G>A (n.*94G>A)
c.423G>A (p.Met141Ile)
c.390G>A (p.Met130Ile)
18g.3457502G>CCA401723405TGIF1c.321G>C (p.Met107Ile)
c.381G>C (p.Met127Ile)
c.768G>C (p.Met256Ile)
c.*94G>C (n.*94G>C)
c.423G>C (p.Met141Ile)
c.390G>C (p.Met130Ile)
18g.3457502G>TCA401723406TGIF1c.321G>T (p.Met107Ile)
c.381G>T (p.Met127Ile)
c.768G>T (p.Met256Ile)
c.*94G>T (n.*94G>T)
c.423G>T (p.Met141Ile)
c.390G>T (p.Met130Ile)
18g.3457503G>ACA295567097TGIF1c.322G>A (p.Gly108Ser)
c.382G>A (p.Gly128Ser)
c.769G>A (p.Gly257Ser)
c.*95G>A (n.*95G>A)
c.424G>A (p.Gly142Ser)
c.391G>A (p.Gly131Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.3457503G>CCA401723407TGIF1c.322G>C (p.Gly108Arg)
c.382G>C (p.Gly128Arg)
c.769G>C (p.Gly257Arg)
c.*95G>C (n.*95G>C)
c.424G>C (p.Gly142Arg)
c.391G>C (p.Gly131Arg)
18g.3457503G=CA2281035545TGIF1c.322G= (p.Gly108=)
c.382G= (p.Gly128=)
c.769G= (p.Gly257=)
c.*95G= (n.*95G=)
c.424G= (p.Gly142=)
c.391G= (p.Gly131=)
18g.3457503G>TCA401723408TGIF1c.322G>T (p.Gly108Cys)
c.382G>T (p.Gly128Cys)
c.769G>T (p.Gly257Cys)
c.*95G>T (n.*95G>T)
c.424G>T (p.Gly142Cys)
c.391G>T (p.Gly131Cys)
18g.3457504G>ACA295567103TGIF1c.323G>A (p.Gly108Asp)
c.383G>A (p.Gly128Asp)
c.770G>A (p.Gly257Asp)
c.*96G>A (n.*96G>A)
c.425G>A (p.Gly142Asp)
c.392G>A (p.Gly131Asp)
dbSNP
18g.3457504G>CCA401723409TGIF1c.323G>C (p.Gly108Ala)
c.383G>C (p.Gly128Ala)
c.770G>C (p.Gly257Ala)
c.*96G>C (n.*96G>C)
c.425G>C (p.Gly142Ala)
c.392G>C (p.Gly131Ala)
18g.3457504G=CA2281035546TGIF1c.323G= (p.Gly108=)
c.383G= (p.Gly128=)
c.770G= (p.Gly257=)
c.*96G= (n.*96G=)
c.425G= (p.Gly142=)
c.392G= (p.Gly131=)
18g.3457504G>TCA401723410TGIF1c.323G>T (p.Gly108Val)
c.383G>T (p.Gly128Val)
c.770G>T (p.Gly257Val)
c.*96G>T (n.*96G>T)
c.425G>T (p.Gly142Val)
c.392G>T (p.Gly131Val)
18g.3457505C>ACA502810457TGIF1c.324C>A (p.Gly108=)
c.384C>A (p.Gly128=)
c.771C>A (p.Gly257=)
c.*97C>A (n.*97C>A)
c.426C>A (p.Gly142=)
c.393C>A (p.Gly131=)
18g.3457505C>GCA502810458TGIF1c.324C>G (p.Gly108=)
c.384C>G (p.Gly128=)
c.771C>G (p.Gly257=)
c.*97C>G (n.*97C>G)
c.426C>G (p.Gly142=)
c.393C>G (p.Gly131=)
18g.3457505C>TCA502810459TGIF1c.324C>T (p.Gly108=)
c.384C>T (p.Gly128=)
c.771C>T (p.Gly257=)
c.*97C>T (n.*97C>T)
c.426C>T (p.Gly142=)
c.393C>T (p.Gly131=)
18g.3457506A>CCA401723411TGIF1c.325A>C (p.Ile109Leu)
c.385A>C (p.Ile129Leu)
c.772A>C (p.Ile258Leu)
c.*98A>C (n.*98A>C)
c.427A>C (p.Ile143Leu)
c.394A>C (p.Ile132Leu)
18g.3457506A>GCA401723412TGIF1c.325A>G (p.Ile109Val)
c.385A>G (p.Ile129Val)
c.772A>G (p.Ile258Val)
c.*98A>G (n.*98A>G)
c.427A>G (p.Ile143Val)
c.394A>G (p.Ile132Val)
gnomAD v4
18g.3457506A>TCA401723413TGIF1c.325A>T (p.Ile109Phe)
c.385A>T (p.Ile129Phe)
c.772A>T (p.Ile258Phe)
c.*98A>T (n.*98A>T)
c.427A>T (p.Ile143Phe)
c.394A>T (p.Ile132Phe)
18g.3457507T>ACA401723415TGIF1c.326T>A (p.Ile109Asn)
c.386T>A (p.Ile129Asn)
c.773T>A (p.Ile258Asn)
c.*99T>A (n.*99T>A)
c.428T>A (p.Ile143Asn)
c.395T>A (p.Ile132Asn)
18g.3457507T>CCA401723416TGIF1c.326T>C (p.Ile109Thr)
c.386T>C (p.Ile129Thr)
c.773T>C (p.Ile258Thr)
c.*99T>C (n.*99T>C)
c.428T>C (p.Ile143Thr)
c.395T>C (p.Ile132Thr)
18g.3457507T>GCA401723414TGIF1c.326T>G (p.Ile109Ser)
c.386T>G (p.Ile129Ser)
c.773T>G (p.Ile258Ser)
c.*99T>G (n.*99T>G)
c.428T>G (p.Ile143Ser)
c.395T>G (p.Ile132Ser)
18g.3457508C>ACA502810461TGIF1c.327C>A (p.Ile109=)
c.387C>A (p.Ile129=)
c.774C>A (p.Ile258=)
c.*100C>A (n.*100C>A)
c.429C>A (p.Ile143=)
c.396C>A (p.Ile132=)
18g.3457508C=CA2281035547TGIF1c.327C= (p.Ile109=)
c.387C= (p.Ile129=)
c.774C= (p.Ile258=)
c.*100C= (n.*100C=)
c.429C= (p.Ile143=)
c.396C= (p.Ile132=)
18g.3457508C>GCA401723417TGIF1c.327C>G (p.Ile109Met)
c.387C>G (p.Ile129Met)
c.774C>G (p.Ile258Met)
c.*100C>G (n.*100C>G)
c.429C>G (p.Ile143Met)
c.396C>G (p.Ile132Met)
18g.3457508C>TCA502810462TGIF1c.327C>T (p.Ile109=)
c.387C>T (p.Ile129=)
c.774C>T (p.Ile258=)
c.*100C>T (n.*100C>T)
c.429C>T (p.Ile143=)
c.396C>T (p.Ile132=)
dbSNP gnomAD v3 gnomAD v4
18g.3457509A>CCA401723418TGIF1c.328A>C (p.Lys110Gln)
c.388A>C (p.Lys130Gln)
c.775A>C (p.Lys259Gln)
c.*101A>C (n.*101A>C)
c.430A>C (p.Lys144Gln)
c.397A>C (p.Lys133Gln)
18g.3457509A>GCA401723419TGIF1c.328A>G (p.Lys110Glu)
c.388A>G (p.Lys130Glu)
c.775A>G (p.Lys259Glu)
c.*101A>G (n.*101A>G)
c.430A>G (p.Lys144Glu)
c.397A>G (p.Lys133Glu)
gnomAD v4
18g.3457509A>TCA401723420TGIF1c.328A>T (p.Lys110Ter)
c.388A>T (p.Lys130Ter)
c.775A>T (p.Lys259Ter)
c.*101A>T (n.*101A>T)
c.430A>T (p.Lys144Ter)
c.397A>T (p.Lys133Ter)
18g.3457510A=CA2281035548TGIF1c.329A= (p.Lys110=)
c.389A= (p.Lys130=)
c.776A= (p.Lys259=)
c.*102A= (n.*102A=)
c.431A= (p.Lys144=)
c.398A= (p.Lys133=)
18g.3457510A>CCA401723421TGIF1c.329A>C (p.Lys110Thr)
c.389A>C (p.Lys130Thr)
c.776A>C (p.Lys259Thr)
c.*102A>C (n.*102A>C)
c.431A>C (p.Lys144Thr)
c.398A>C (p.Lys133Thr)
18g.3457510A>GCA8875944TGIF1c.329A>G (p.Lys110Arg)
c.389A>G (p.Lys130Arg)
c.776A>G (p.Lys259Arg)
c.*102A>G (n.*102A>G)
c.431A>G (p.Lys144Arg)
c.398A>G (p.Lys133Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3457510A>TCA401723422TGIF1c.329A>T (p.Lys110Ile)
c.389A>T (p.Lys130Ile)
c.776A>T (p.Lys259Ile)
c.*102A>T (n.*102A>T)
c.431A>T (p.Lys144Ile)
c.398A>T (p.Lys133Ile)
18g.3457511A>CCA401723423TGIF1c.330A>C (p.Lys110Asn)
c.390A>C (p.Lys130Asn)
c.777A>C (p.Lys259Asn)
c.*103A>C (n.*103A>C)
c.432A>C (p.Lys144Asn)
c.399A>C (p.Lys133Asn)
18g.3457511A>GCA502810466TGIF1c.330A>G (p.Lys110=)
c.390A>G (p.Lys130=)
c.777A>G (p.Lys259=)
c.*103A>G (n.*103A>G)
c.432A>G (p.Lys144=)
c.399A>G (p.Lys133=)
18g.3457511A>TCA401723424TGIF1c.330A>T (p.Lys110Asn)
c.390A>T (p.Lys130Asn)
c.777A>T (p.Lys259Asn)
c.*103A>T (n.*103A>T)
c.432A>T (p.Lys144Asn)
c.399A>T (p.Lys133Asn)
18g.3457512A>CCA401723425TGIF1c.331A>C (p.Asn111His)
c.391A>C (p.Asn131His)
c.778A>C (p.Asn260His)
c.*104A>C (n.*104A>C)
c.433A>C (p.Asn145His)
c.400A>C (p.Asn134His)
18g.3457512A>GCA401723426TGIF1c.331A>G (p.Asn111Asp)
c.391A>G (p.Asn131Asp)
c.778A>G (p.Asn260Asp)
c.*104A>G (n.*104A>G)
c.433A>G (p.Asn145Asp)
c.400A>G (p.Asn134Asp)
18g.3457512A>TCA401723427TGIF1c.331A>T (p.Asn111Tyr)
c.391A>T (p.Asn131Tyr)
c.778A>T (p.Asn260Tyr)
c.*104A>T (n.*104A>T)
c.433A>T (p.Asn145Tyr)
c.400A>T (p.Asn134Tyr)
18g.3457513A>CCA401723428TGIF1c.332A>C (p.Asn111Thr)
c.392A>C (p.Asn131Thr)
c.779A>C (p.Asn260Thr)
c.*105A>C (n.*105A>C)
c.434A>C (p.Asn145Thr)
c.401A>C (p.Asn134Thr)
gnomAD v4
18g.3457513A>GCA401723429TGIF1c.332A>G (p.Asn111Ser)
c.392A>G (p.Asn131Ser)
c.779A>G (p.Asn260Ser)
c.*105A>G (n.*105A>G)
c.434A>G (p.Asn145Ser)
c.401A>G (p.Asn134Ser)
18g.3457513A>TCA401723430TGIF1c.332A>T (p.Asn111Ile)
c.392A>T (p.Asn131Ile)
c.779A>T (p.Asn260Ile)
c.*105A>T (n.*105A>T)
c.434A>T (p.Asn145Ile)
c.401A>T (p.Asn134Ile)
18g.3457514C>ACA401723432TGIF1c.333C>A (p.Asn111Lys)
c.393C>A (p.Asn131Lys)
c.780C>A (p.Asn260Lys)
c.*106C>A (n.*106C>A)
c.435C>A (p.Asn145Lys)
c.402C>A (p.Asn134Lys)
18g.3457514C>GCA401723431TGIF1c.333C>G (p.Asn111Lys)
c.393C>G (p.Asn131Lys)
c.780C>G (p.Asn260Lys)
c.*106C>G (n.*106C>G)
c.435C>G (p.Asn145Lys)
c.402C>G (p.Asn134Lys)
18g.3457514C>TCA502810467TGIF1c.333C>T (p.Asn111=)
c.393C>T (p.Asn131=)
c.780C>T (p.Asn260=)
c.*106C>T (n.*106C>T)
c.435C>T (p.Asn145=)
c.402C>T (p.Asn134=)
18g.3457515T>ACA401723433TGIF1c.334T>A (p.Phe112Ile)
c.394T>A (p.Phe132Ile)
c.781T>A (p.Phe261Ile)
c.*107T>A (n.*107T>A)
c.436T>A (p.Phe146Ile)
c.403T>A (p.Phe135Ile)
18g.3457515T>CCA401723435TGIF1c.334T>C (p.Phe112Leu)
c.394T>C (p.Phe132Leu)
c.781T>C (p.Phe261Leu)
c.*107T>C (n.*107T>C)
c.436T>C (p.Phe146Leu)
c.403T>C (p.Phe135Leu)
18g.3457515T>GCA401723434TGIF1c.334T>G (p.Phe112Val)
c.394T>G (p.Phe132Val)
c.781T>G (p.Phe261Val)
c.*107T>G (n.*107T>G)
c.436T>G (p.Phe146Val)
c.403T>G (p.Phe135Val)
18g.3457516T>ACA401723436TGIF1c.335T>A (p.Phe112Tyr)
c.395T>A (p.Phe132Tyr)
c.782T>A (p.Phe261Tyr)
c.*108T>A (n.*108T>A)
c.437T>A (p.Phe146Tyr)
c.404T>A (p.Phe135Tyr)
18g.3457516T>CCA401723438TGIF1c.335T>C (p.Phe112Ser)
c.395T>C (p.Phe132Ser)
c.782T>C (p.Phe261Ser)
c.*108T>C (n.*108T>C)
c.437T>C (p.Phe146Ser)
c.404T>C (p.Phe135Ser)
18g.3457516T>GCA401723437TGIF1c.335T>G (p.Phe112Cys)
c.395T>G (p.Phe132Cys)
c.782T>G (p.Phe261Cys)
c.*108T>G (n.*108T>G)
c.437T>G (p.Phe146Cys)
c.404T>G (p.Phe135Cys)
18g.3457517C>ACA401723439TGIF1c.336C>A (p.Phe112Leu)
c.396C>A (p.Phe132Leu)
c.783C>A (p.Phe261Leu)
c.*109C>A (n.*109C>A)
c.438C>A (p.Phe146Leu)
c.405C>A (p.Phe135Leu)
dbSNP gnomAD v2
18g.3457517C=CA2281035549TGIF1c.336C= (p.Phe112=)
c.396C= (p.Phe132=)
c.783C= (p.Phe261=)
c.*109C= (n.*109C=)
c.438C= (p.Phe146=)
c.405C= (p.Phe135=)
18g.3457517C>GCA401723440TGIF1c.336C>G (p.Phe112Leu)
c.396C>G (p.Phe132Leu)
c.783C>G (p.Phe261Leu)
c.*109C>G (n.*109C>G)
c.438C>G (p.Phe146Leu)
c.405C>G (p.Phe135Leu)
ClinVar
18g.3457517C>TCA502810469TGIF1c.336C>T (p.Phe112=)
c.396C>T (p.Phe132=)
c.783C>T (p.Phe261=)
c.*109C>T (n.*109C>T)
c.438C>T (p.Phe146=)
c.405C>T (p.Phe135=)
18g.3457518A>CCA401723441TGIF1c.337A>C (p.Met113Leu)
c.397A>C (p.Met133Leu)
c.784A>C (p.Met262Leu)
c.*110A>C (n.*110A>C)
c.439A>C (p.Met147Leu)
c.406A>C (p.Met136Leu)
18g.3457518A>GCA401723443TGIF1c.337A>G (p.Met113Val)
c.397A>G (p.Met133Val)
c.784A>G (p.Met262Val)
c.*110A>G (n.*110A>G)
c.439A>G (p.Met147Val)
c.406A>G (p.Met136Val)
18g.3457518A>TCA401723442TGIF1c.337A>T (p.Met113Leu)
c.397A>T (p.Met133Leu)
c.784A>T (p.Met262Leu)
c.*110A>T (n.*110A>T)
c.439A>T (p.Met147Leu)
c.406A>T (p.Met136Leu)
18g.3457519T>ACA401723444TGIF1c.338T>A (p.Met113Lys)
c.398T>A (p.Met133Lys)
c.785T>A (p.Met262Lys)
c.*111T>A (n.*111T>A)
c.440T>A (p.Met147Lys)
c.407T>A (p.Met136Lys)
18g.3457519T>CCA401723445TGIF1c.338T>C (p.Met113Thr)
c.398T>C (p.Met133Thr)
c.785T>C (p.Met262Thr)
c.*111T>C (n.*111T>C)
c.440T>C (p.Met147Thr)
c.407T>C (p.Met136Thr)
18g.3457519T>GCA401723446TGIF1c.338T>G (p.Met113Arg)
c.398T>G (p.Met133Arg)
c.785T>G (p.Met262Arg)
c.*111T>G (n.*111T>G)
c.440T>G (p.Met147Arg)
c.407T>G (p.Met136Arg)
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)

Number of alleles fetched