| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.49255722T>A | CA412951066 | FOXP3 | c.623A>T (p.Glu208Val) c.728A>T (p.Glu243Val) c.797A>T (p.Glu266Val) c.578A>T (p.Glu193Val) c.947A>T (p.Glu316Val) c.746A>T (p.Glu249Val) c.983A>T (p.Glu328Val) c.674A>T (p.Glu225Val) | |
| X | g.49255722T>C | CA412951067 | FOXP3 | c.623A>G (p.Glu208Gly) c.728A>G (p.Glu243Gly) c.797A>G (p.Glu266Gly) c.578A>G (p.Glu193Gly) c.947A>G (p.Glu316Gly) c.746A>G (p.Glu249Gly) c.983A>G (p.Glu328Gly) c.674A>G (p.Glu225Gly) | |
| X | g.49255722T>G | CA412951068 | FOXP3 | c.623A>C (p.Glu208Ala) c.728A>C (p.Glu243Ala) c.797A>C (p.Glu266Ala) c.578A>C (p.Glu193Ala) c.947A>C (p.Glu316Ala) c.746A>C (p.Glu249Ala) c.983A>C (p.Glu328Ala) c.674A>C (p.Glu225Ala) | |
| X | g.49255722_49255723delinsTC | CA2428552712 | FOXP3 | c.622_623delinsGA (p.Glu208=) c.727_728delinsGA (p.Glu243=) c.796_797delinsGA (p.Glu266=) c.577_578delinsGA (p.Glu193=) c.946_947delinsGA (p.Glu316=) c.745_746delinsGA (p.Glu249=) c.982_983delinsGA (p.Glu328=) c.673_674delinsGA (p.Glu225=) | |
| X | g.49255723C>A | CA412951069 | FOXP3 | c.622G>T (p.Glu208Ter) c.727G>T (p.Glu243Ter) c.796G>T (p.Glu266Ter) c.577G>T (p.Glu193Ter) c.946G>T (p.Glu316Ter) c.745G>T (p.Glu249Ter) c.982G>T (p.Glu328Ter) c.673G>T (p.Glu225Ter) | |
| X | g.49255723C>G | CA412951070 | FOXP3 | c.622G>C (p.Glu208Gln) c.727G>C (p.Glu243Gln) c.796G>C (p.Glu266Gln) c.577G>C (p.Glu193Gln) c.946G>C (p.Glu316Gln) c.745G>C (p.Glu249Gln) c.982G>C (p.Glu328Gln) c.673G>C (p.Glu225Gln) | |
| X | g.49255723C>T | CA412951071 | FOXP3 | c.622G>A (p.Glu208Lys) c.727G>A (p.Glu243Lys) c.796G>A (p.Glu266Lys) c.577G>A (p.Glu193Lys) c.946G>A (p.Glu316Lys) c.745G>A (p.Glu249Lys) c.982G>A (p.Glu328Lys) c.673G>A (p.Glu225Lys) | ClinVar |
| X | g.49255724del | CA277339 | FOXP3 | c.622del (p.Glu208SerfsTer11) c.727del (p.Glu243SerfsTer11) c.796del (p.Glu266SerfsTer11) c.727del (p.Glu243SerfsTer14) c.577del (p.Glu193SerfsTer11) c.946del (p.Glu316SerfsTer11) c.745del (p.Glu249SerfsTer11) c.982del (p.Glu328SerfsTer11) c.673del (p.Glu225SerfsTer11) | ClinVar dbSNP |
| X | g.49255724C>A | CA516397307 | FOXP3 | c.621G>T (p.Leu207=) c.726G>T (p.Leu242=) c.795G>T (p.Leu265=) c.576G>T (p.Leu192=) c.945G>T (p.Leu315=) c.744G>T (p.Leu248=) c.981G>T (p.Leu327=) c.672G>T (p.Leu224=) | |
| X | g.49255724C>G | CA516397311 | FOXP3 | c.621G>C (p.Leu207=) c.726G>C (p.Leu242=) c.795G>C (p.Leu265=) c.576G>C (p.Leu192=) c.945G>C (p.Leu315=) c.744G>C (p.Leu248=) c.981G>C (p.Leu327=) c.672G>C (p.Leu224=) | |
| X | g.49255724C>T | CA516397309 | FOXP3 | c.621G>A (p.Leu207=) c.726G>A (p.Leu242=) c.795G>A (p.Leu265=) c.576G>A (p.Leu192=) c.945G>A (p.Leu315=) c.744G>A (p.Leu248=) c.981G>A (p.Leu327=) c.672G>A (p.Leu224=) | |
| X | g.49255725A>C | CA412951072 | FOXP3 | c.620T>G (p.Leu207Arg) c.725T>G (p.Leu242Arg) c.794T>G (p.Leu265Arg) c.575T>G (p.Leu192Arg) c.944T>G (p.Leu315Arg) c.743T>G (p.Leu248Arg) c.980T>G (p.Leu327Arg) c.671T>G (p.Leu224Arg) | |
| X | g.49255725A>G | CA412951073 | FOXP3 | c.620T>C (p.Leu207Pro) c.725T>C (p.Leu242Pro) c.794T>C (p.Leu265Pro) c.575T>C (p.Leu192Pro) c.944T>C (p.Leu315Pro) c.743T>C (p.Leu248Pro) c.980T>C (p.Leu327Pro) c.671T>C (p.Leu224Pro) | COSMIC |
| X | g.49255725A>T | CA412951074 | FOXP3 | c.620T>A (p.Leu207Gln) c.725T>A (p.Leu242Gln) c.794T>A (p.Leu265Gln) c.575T>A (p.Leu192Gln) c.944T>A (p.Leu315Gln) c.743T>A (p.Leu248Gln) c.980T>A (p.Leu327Gln) c.671T>A (p.Leu224Gln) | |
| X | g.49255726G>A | CA516397316 | FOXP3 | c.619C>T (p.Leu207=) c.724C>T (p.Leu242=) c.793C>T (p.Leu265=) c.574C>T (p.Leu192=) c.943C>T (p.Leu315=) c.742C>T (p.Leu248=) c.979C>T (p.Leu327=) c.670C>T (p.Leu224=) | |
| X | g.49255726G>C | CA412951076 | FOXP3 | c.619C>G (p.Leu207Val) c.724C>G (p.Leu242Val) c.793C>G (p.Leu265Val) c.574C>G (p.Leu192Val) c.943C>G (p.Leu315Val) c.742C>G (p.Leu248Val) c.979C>G (p.Leu327Val) c.670C>G (p.Leu224Val) | |
| X | g.49255726G>T | CA412951075 | FOXP3 | c.619C>A (p.Leu207Met) c.724C>A (p.Leu242Met) c.793C>A (p.Leu265Met) c.574C>A (p.Leu192Met) c.943C>A (p.Leu315Met) c.742C>A (p.Leu248Met) c.979C>A (p.Leu327Met) c.670C>A (p.Leu224Met) | gnomAD v4 |
| X | g.49255727A>C | CA516397320 | FOXP3 | c.618T>G (p.Ser206=) c.723T>G (p.Ser241=) c.792T>G (p.Ser264=) c.573T>G (p.Ser191=) c.942T>G (p.Ser314=) c.741T>G (p.Ser247=) c.978T>G (p.Ser326=) c.669T>G (p.Ser223=) | |
| X | g.49255727A>G | CA516397321 | FOXP3 | c.618T>C (p.Ser206=) c.723T>C (p.Ser241=) c.792T>C (p.Ser264=) c.573T>C (p.Ser191=) c.942T>C (p.Ser314=) c.741T>C (p.Ser247=) c.978T>C (p.Ser326=) c.669T>C (p.Ser223=) | |
| X | g.49255727A>T | CA516397324 | FOXP3 | c.618T>A (p.Ser206=) c.723T>A (p.Ser241=) c.792T>A (p.Ser264=) c.573T>A (p.Ser191=) c.942T>A (p.Ser314=) c.741T>A (p.Ser247=) c.978T>A (p.Ser326=) c.669T>A (p.Ser223=) | |
| X | g.49255728G>A | CA412951077 | FOXP3 | c.617C>T (p.Ser206Phe) c.722C>T (p.Ser241Phe) c.791C>T (p.Ser264Phe) c.572C>T (p.Ser191Phe) c.941C>T (p.Ser314Phe) c.740C>T (p.Ser247Phe) c.977C>T (p.Ser326Phe) c.668C>T (p.Ser223Phe) | |
| X | g.49255728G>C | CA412951078 | FOXP3 | c.617C>G (p.Ser206Cys) c.722C>G (p.Ser241Cys) c.791C>G (p.Ser264Cys) c.572C>G (p.Ser191Cys) c.941C>G (p.Ser314Cys) c.740C>G (p.Ser247Cys) c.977C>G (p.Ser326Cys) c.668C>G (p.Ser223Cys) | |
| X | g.49255728G>T | CA412951079 | FOXP3 | c.617C>A (p.Ser206Tyr) c.722C>A (p.Ser241Tyr) c.791C>A (p.Ser264Tyr) c.572C>A (p.Ser191Tyr) c.941C>A (p.Ser314Tyr) c.740C>A (p.Ser247Tyr) c.977C>A (p.Ser326Tyr) c.668C>A (p.Ser223Tyr) | |
| X | g.49255729A>C | CA412951080 | FOXP3 | c.616T>G (p.Ser206Ala) c.721T>G (p.Ser241Ala) c.790T>G (p.Ser264Ala) c.571T>G (p.Ser191Ala) c.940T>G (p.Ser314Ala) c.739T>G (p.Ser247Ala) c.976T>G (p.Ser326Ala) c.667T>G (p.Ser223Ala) | |
| X | g.49255729A>G | CA412951081 | FOXP3 | c.616T>C (p.Ser206Pro) c.721T>C (p.Ser241Pro) c.790T>C (p.Ser264Pro) c.571T>C (p.Ser191Pro) c.940T>C (p.Ser314Pro) c.739T>C (p.Ser247Pro) c.976T>C (p.Ser326Pro) c.667T>C (p.Ser223Pro) | |
| X | g.49255729A>T | CA412951082 | FOXP3 | c.616T>A (p.Ser206Thr) c.721T>A (p.Ser241Thr) c.790T>A (p.Ser264Thr) c.571T>A (p.Ser191Thr) c.940T>A (p.Ser314Thr) c.739T>A (p.Ser247Thr) c.976T>A (p.Ser326Thr) c.667T>A (p.Ser223Thr) | |
| X | g.49255730C>A | CA412951083 | FOXP3 | c.615G>T (p.Gln205His) c.720G>T (p.Gln240His) c.789G>T (p.Gln263His) c.570G>T (p.Gln190His) c.939G>T (p.Gln313His) c.738G>T (p.Gln246His) c.975G>T (p.Gln325His) c.666G>T (p.Gln222His) | |
| X | g.49255730C>G | CA412951084 | FOXP3 | c.615G>C (p.Gln205His) c.720G>C (p.Gln240His) c.789G>C (p.Gln263His) c.570G>C (p.Gln190His) c.939G>C (p.Gln313His) c.738G>C (p.Gln246His) c.975G>C (p.Gln325His) c.666G>C (p.Gln222His) | |
| X | g.49255730C>T | CA516397333 | FOXP3 | c.615G>A (p.Gln205=) c.720G>A (p.Gln240=) c.789G>A (p.Gln263=) c.570G>A (p.Gln190=) c.939G>A (p.Gln313=) c.738G>A (p.Gln246=) c.975G>A (p.Gln325=) c.666G>A (p.Gln222=) | |
| X | g.49255731T>A | CA412951085 | FOXP3 | c.614A>T (p.Gln205Leu) c.719A>T (p.Gln240Leu) c.788A>T (p.Gln263Leu) c.569A>T (p.Gln190Leu) c.938A>T (p.Gln313Leu) c.737A>T (p.Gln246Leu) c.974A>T (p.Gln325Leu) c.665A>T (p.Gln222Leu) | |
| X | g.49255731T>C | CA412951086 | FOXP3 | c.614A>G (p.Gln205Arg) c.719A>G (p.Gln240Arg) c.788A>G (p.Gln263Arg) c.569A>G (p.Gln190Arg) c.938A>G (p.Gln313Arg) c.737A>G (p.Gln246Arg) c.974A>G (p.Gln325Arg) c.665A>G (p.Gln222Arg) | |
| X | g.49255731T>G | CA412951087 | FOXP3 | c.614A>C (p.Gln205Pro) c.719A>C (p.Gln240Pro) c.788A>C (p.Gln263Pro) c.569A>C (p.Gln190Pro) c.938A>C (p.Gln313Pro) c.737A>C (p.Gln246Pro) c.974A>C (p.Gln325Pro) c.665A>C (p.Gln222Pro) | |
| X | g.49255732G>A | CA412951088 | FOXP3 | c.613C>T (p.Gln205Ter) c.718C>T (p.Gln240Ter) c.787C>T (p.Gln263Ter) c.568C>T (p.Gln190Ter) c.937C>T (p.Gln313Ter) c.736C>T (p.Gln246Ter) c.973C>T (p.Gln325Ter) c.664C>T (p.Gln222Ter) | |
| X | g.49255732G>C | CA412951089 | FOXP3 | c.613C>G (p.Gln205Glu) c.718C>G (p.Gln240Glu) c.787C>G (p.Gln263Glu) c.568C>G (p.Gln190Glu) c.937C>G (p.Gln313Glu) c.736C>G (p.Gln246Glu) c.973C>G (p.Gln325Glu) c.664C>G (p.Gln222Glu) | |
| X | g.49255732G>T | CA412951090 | FOXP3 | c.613C>A (p.Gln205Lys) c.718C>A (p.Gln240Lys) c.787C>A (p.Gln263Lys) c.568C>A (p.Gln190Lys) c.937C>A (p.Gln313Lys) c.736C>A (p.Gln246Lys) c.973C>A (p.Gln325Lys) c.664C>A (p.Gln222Lys) | |
| X | g.49255733T>A | CA516397341 | FOXP3 | c.612A>T (p.Val204=) c.717A>T (p.Val239=) c.786A>T (p.Val262=) c.567A>T (p.Val189=) c.936A>T (p.Val312=) c.735A>T (p.Val245=) c.972A>T (p.Val324=) c.663A>T (p.Val221=) | |
| X | g.49255733T>C | CA10411753 | FOXP3 | c.612A>G (p.Val204=) c.717A>G (p.Val239=) c.786A>G (p.Val262=) c.567A>G (p.Val189=) c.936A>G (p.Val312=) c.735A>G (p.Val245=) c.972A>G (p.Val324=) c.663A>G (p.Val221=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.49255733T>G | CA516397343 | FOXP3 | c.612A>C (p.Val204=) c.717A>C (p.Val239=) c.786A>C (p.Val262=) c.567A>C (p.Val189=) c.936A>C (p.Val312=) c.735A>C (p.Val245=) c.972A>C (p.Val324=) c.663A>C (p.Val221=) | |
| X | g.49255733T= | CA2428552713 | FOXP3 | c.612A= (p.Val204=) c.717A= (p.Val239=) c.786A= (p.Val262=) c.567A= (p.Val189=) c.936A= (p.Val312=) c.735A= (p.Val245=) c.972A= (p.Val324=) c.663A= (p.Val221=) | |
| X | g.49255734A>C | CA412951093 | FOXP3 | c.611T>G (p.Val204Gly) c.716T>G (p.Val239Gly) c.785T>G (p.Val262Gly) c.566T>G (p.Val189Gly) c.935T>G (p.Val312Gly) c.734T>G (p.Val245Gly) c.971T>G (p.Val324Gly) c.662T>G (p.Val221Gly) | |
| X | g.49255734A>G | CA412951091 | FOXP3 | c.611T>C (p.Val204Ala) c.716T>C (p.Val239Ala) c.785T>C (p.Val262Ala) c.566T>C (p.Val189Ala) c.935T>C (p.Val312Ala) c.734T>C (p.Val245Ala) c.971T>C (p.Val324Ala) c.662T>C (p.Val221Ala) | ClinVar |
| X | g.49255734A>T | CA412951092 | FOXP3 | c.611T>A (p.Val204Glu) c.716T>A (p.Val239Glu) c.785T>A (p.Val262Glu) c.566T>A (p.Val189Glu) c.935T>A (p.Val312Glu) c.734T>A (p.Val245Glu) c.971T>A (p.Val324Glu) c.662T>A (p.Val221Glu) | |
| X | g.49255735C>A | CA412951094 | FOXP3 | c.610G>T (p.Val204Leu) c.715G>T (p.Val239Leu) c.784G>T (p.Val262Leu) c.565G>T (p.Val189Leu) c.934G>T (p.Val312Leu) c.733G>T (p.Val245Leu) c.970G>T (p.Val324Leu) c.661G>T (p.Val221Leu) | |
| X | g.49255735C>G | CA412951095 | FOXP3 | c.610G>C (p.Val204Leu) c.715G>C (p.Val239Leu) c.784G>C (p.Val262Leu) c.565G>C (p.Val189Leu) c.934G>C (p.Val312Leu) c.733G>C (p.Val245Leu) c.970G>C (p.Val324Leu) c.661G>C (p.Val221Leu) | |
| X | g.49255735C>T | CA412951096 | FOXP3 | c.610G>A (p.Val204Ile) c.715G>A (p.Val239Ile) c.784G>A (p.Val262Ile) c.565G>A (p.Val189Ile) c.934G>A (p.Val312Ile) c.733G>A (p.Val245Ile) c.970G>A (p.Val324Ile) c.661G>A (p.Val221Ile) | |
| X | g.49255736C>A | CA412951097 | FOXP3 | c.609G>T (p.Met203Ile) c.714G>T (p.Met238Ile) c.783G>T (p.Met261Ile) c.564G>T (p.Met188Ile) c.933G>T (p.Met311Ile) c.732G>T (p.Met244Ile) c.969G>T (p.Met323Ile) c.660G>T (p.Met220Ile) | |
| X | g.49255736C>G | CA412951098 | FOXP3 | c.609G>C (p.Met203Ile) c.714G>C (p.Met238Ile) c.783G>C (p.Met261Ile) c.564G>C (p.Met188Ile) c.933G>C (p.Met311Ile) c.732G>C (p.Met244Ile) c.969G>C (p.Met323Ile) c.660G>C (p.Met220Ile) | |
| X | g.49255736C>T | CA412951099 | FOXP3 | c.609G>A (p.Met203Ile) c.714G>A (p.Met238Ile) c.783G>A (p.Met261Ile) c.564G>A (p.Met188Ile) c.933G>A (p.Met311Ile) c.732G>A (p.Met244Ile) c.969G>A (p.Met323Ile) c.660G>A (p.Met220Ile) | |
| X | g.49255737A= | CA2428552714 | FOXP3 | c.608T= (p.Met203=) c.713T= (p.Met238=) c.782T= (p.Met261=) c.563T= (p.Met188=) c.932T= (p.Met311=) c.731T= (p.Met244=) c.968T= (p.Met323=) c.659T= (p.Met220=) | |
| X | g.49255737A>C | CA10411754 | FOXP3 | c.608T>G (p.Met203Arg) c.713T>G (p.Met238Arg) c.782T>G (p.Met261Arg) c.563T>G (p.Met188Arg) c.932T>G (p.Met311Arg) c.731T>G (p.Met244Arg) c.968T>G (p.Met323Arg) c.659T>G (p.Met220Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |