| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.49255491_49255494delinsTCTC | CA2428552643 | FOXP3 | c.646_649delinsGAGA (p.Glu216=) c.751_754delinsGAGA (p.Glu251=) c.820_823delinsGAGA (p.Glu274=) c.735+221_735+224delinsGAGA (n.735+221_735+224delinsGAGA) c.601_604delinsGAGA (p.Glu201=) c.970_973delinsGAGA (p.Glu324=) c.769_772delinsGAGA (p.Glu257=) c.1006_1009delinsGAGA (p.Glu336=) c.697_700delinsGAGA (p.Glu233=) | |
| X | g.49255494_49255496del | CA255861 | FOXP3 | c.646_648del (p.Glu216del) c.751_753del (p.Glu251del) c.820_822del (p.Glu274del) c.735+221_735+223del (n.735+221_735+223del) c.601_603del (p.Glu201del) c.970_972del (p.Glu324del) c.769_771del (p.Glu257del) c.1006_1008del (p.Glu336del) c.697_699del (p.Glu233del) | ClinVar dbSNP |
| X | g.49255494C>A | CA412951002 | FOXP3 | c.646G>T (p.Glu216Ter) c.751G>T (p.Glu251Ter) c.820G>T (p.Glu274Ter) c.735+221G>T (n.735+221G>T) c.601G>T (p.Glu201Ter) c.970G>T (p.Glu324Ter) c.769G>T (p.Glu257Ter) c.1006G>T (p.Glu336Ter) c.697G>T (p.Glu233Ter) | gnomAD v4 |
| X | g.49255494C>G | CA412951000 | FOXP3 | c.646G>C (p.Glu216Gln) c.751G>C (p.Glu251Gln) c.820G>C (p.Glu274Gln) c.735+221G>C (n.735+221G>C) c.601G>C (p.Glu201Gln) c.970G>C (p.Glu324Gln) c.769G>C (p.Glu257Gln) c.1006G>C (p.Glu336Gln) c.697G>C (p.Glu233Gln) | gnomAD v4 |
| X | g.49255494C>T | CA412951001 | FOXP3 | c.646G>A (p.Glu216Lys) c.751G>A (p.Glu251Lys) c.820G>A (p.Glu274Lys) c.735+221G>A (n.735+221G>A) c.601G>A (p.Glu201Lys) c.970G>A (p.Glu324Lys) c.769G>A (p.Glu257Lys) c.1006G>A (p.Glu336Lys) c.697G>A (p.Glu233Lys) | |
| X | g.49255494_49255497delinsCCTT | CA2428552644 | FOXP3 | c.643_646delinsAAGG (p.Lys215=) c.748_751delinsAAGG (p.Lys250=) c.817_820delinsAAGG (p.Lys273=) c.735+218_735+221delinsAAGG (n.735+218_735+221delinsAAGG) c.598_601delinsAAGG (p.Lys200=) c.967_970delinsAAGG (p.Lys323=) c.766_769delinsAAGG (p.Lys256=) c.1003_1006delinsAAGG (p.Lys335=) c.694_697delinsAAGG (p.Lys232=) | |
| X | g.49255495C>A | CA412951003 | FOXP3 | c.645G>T (p.Lys215Asn) c.750G>T (p.Lys250Asn) c.819G>T (p.Lys273Asn) c.735+220G>T (n.735+220G>T) c.600G>T (p.Lys200Asn) c.969G>T (p.Lys323Asn) c.768G>T (p.Lys256Asn) c.1005G>T (p.Lys335Asn) c.696G>T (p.Lys232Asn) | gnomAD v4 |
| X | g.49255495C>G | CA412951004 | FOXP3 | c.645G>C (p.Lys215Asn) c.750G>C (p.Lys250Asn) c.819G>C (p.Lys273Asn) c.735+220G>C (n.735+220G>C) c.600G>C (p.Lys200Asn) c.969G>C (p.Lys323Asn) c.768G>C (p.Lys256Asn) c.1005G>C (p.Lys335Asn) c.696G>C (p.Lys232Asn) | |
| X | g.49255495C>T | CA516397197 | FOXP3 | c.645G>A (p.Lys215=) c.750G>A (p.Lys250=) c.819G>A (p.Lys273=) c.735+220G>A (n.735+220G>A) c.600G>A (p.Lys200=) c.969G>A (p.Lys323=) c.768G>A (p.Lys256=) c.1005G>A (p.Lys335=) c.696G>A (p.Lys232=) | gnomAD v4 |
| X | g.49255497_49255499del | CA658799739 | FOXP3 | c.643_645del (p.Lys215del) c.748_750del (p.Lys250del) c.817_819del (p.Lys273del) c.735+218_735+220del (n.735+218_735+220del) c.598_600del (p.Lys200del) c.967_969del (p.Lys323del) c.766_768del (p.Lys256del) c.1003_1005del (p.Lys335del) c.694_696del (p.Lys232del) | ClinVar dbSNP |
| X | g.49255496T>A | CA412951005 | FOXP3 | c.644A>T (p.Lys215Met) c.749A>T (p.Lys250Met) c.818A>T (p.Lys273Met) c.735+219A>T (n.735+219A>T) c.599A>T (p.Lys200Met) c.968A>T (p.Lys323Met) c.767A>T (p.Lys256Met) c.1004A>T (p.Lys335Met) c.695A>T (p.Lys232Met) | |
| X | g.49255496T>C | CA412951006 | FOXP3 | c.644A>G (p.Lys215Arg) c.749A>G (p.Lys250Arg) c.818A>G (p.Lys273Arg) c.735+219A>G (n.735+219A>G) c.599A>G (p.Lys200Arg) c.968A>G (p.Lys323Arg) c.767A>G (p.Lys256Arg) c.1004A>G (p.Lys335Arg) c.695A>G (p.Lys232Arg) | |
| X | g.49255496T>G | CA412951007 | FOXP3 | c.644A>C (p.Lys215Thr) c.749A>C (p.Lys250Thr) c.818A>C (p.Lys273Thr) c.735+219A>C (n.735+219A>C) c.599A>C (p.Lys200Thr) c.968A>C (p.Lys323Thr) c.767A>C (p.Lys256Thr) c.1004A>C (p.Lys335Thr) c.695A>C (p.Lys232Thr) | |
| X | g.49255497del | CA2695233621 | FOXP3 | c.644del (p.Lys215ArgfsTer4) c.749del (p.Lys250ArgfsTer4) c.818del (p.Lys273ArgfsTer4) c.735+219del (n.735+219del) c.599del (p.Lys200ArgfsTer4) c.968del (p.Lys323ArgfsTer4) c.767del (p.Lys256ArgfsTer4) c.1004del (p.Lys335ArgfsTer4) c.695del (p.Lys232ArgfsTer4) | |
| X | g.49255497T>A | CA412951008 | FOXP3 | c.643A>T (p.Lys215Ter) c.748A>T (p.Lys250Ter) c.817A>T (p.Lys273Ter) c.735+218A>T (n.735+218A>T) c.598A>T (p.Lys200Ter) c.967A>T (p.Lys323Ter) c.766A>T (p.Lys256Ter) c.1003A>T (p.Lys335Ter) c.694A>T (p.Lys232Ter) | gnomAD v4 |
| X | g.49255497T>C | CA412951009 | FOXP3 | c.643A>G (p.Lys215Glu) c.748A>G (p.Lys250Glu) c.817A>G (p.Lys273Glu) c.735+218A>G (n.735+218A>G) c.598A>G (p.Lys200Glu) c.967A>G (p.Lys323Glu) c.766A>G (p.Lys256Glu) c.1003A>G (p.Lys335Glu) c.694A>G (p.Lys232Glu) | |
| X | g.49255497T>G | CA412951010 | FOXP3 | c.643A>C (p.Lys215Gln) c.748A>C (p.Lys250Gln) c.817A>C (p.Lys273Gln) c.735+218A>C (n.735+218A>C) c.598A>C (p.Lys200Gln) c.967A>C (p.Lys323Gln) c.766A>C (p.Lys256Gln) c.1003A>C (p.Lys335Gln) c.694A>C (p.Lys232Gln) | |
| X | g.49255498C>A | CA412951011 | FOXP3 | c.642G>T (p.Glu214Asp) c.747G>T (p.Glu249Asp) c.816G>T (p.Glu272Asp) c.735+217G>T (n.735+217G>T) c.597G>T (p.Glu199Asp) c.966G>T (p.Glu322Asp) c.765G>T (p.Glu255Asp) c.1002G>T (p.Glu334Asp) c.693G>T (p.Glu231Asp) | gnomAD v4 |
| X | g.49255498C>G | CA412951012 | FOXP3 | c.642G>C (p.Glu214Asp) c.747G>C (p.Glu249Asp) c.816G>C (p.Glu272Asp) c.735+217G>C (n.735+217G>C) c.597G>C (p.Glu199Asp) c.966G>C (p.Glu322Asp) c.765G>C (p.Glu255Asp) c.1002G>C (p.Glu334Asp) c.693G>C (p.Glu231Asp) | |
| X | g.49255498C>T | CA516397207 | FOXP3 | c.642G>A (p.Glu214=) c.747G>A (p.Glu249=) c.816G>A (p.Glu272=) c.735+217G>A (n.735+217G>A) c.597G>A (p.Glu199=) c.966G>A (p.Glu322=) c.765G>A (p.Glu255=) c.1002G>A (p.Glu334=) c.693G>A (p.Glu231=) | |
| X | g.49255499T>A | CA412951013 | FOXP3 | c.641A>T (p.Glu214Val) c.746A>T (p.Glu249Val) c.815A>T (p.Glu272Val) c.735+216A>T (n.735+216A>T) c.596A>T (p.Glu199Val) c.965A>T (p.Glu322Val) c.764A>T (p.Glu255Val) c.1001A>T (p.Glu334Val) c.692A>T (p.Glu231Val) | |
| X | g.49255499T>C | CA412951014 | FOXP3 | c.641A>G (p.Glu214Gly) c.746A>G (p.Glu249Gly) c.815A>G (p.Glu272Gly) c.735+216A>G (n.735+216A>G) c.596A>G (p.Glu199Gly) c.965A>G (p.Glu322Gly) c.764A>G (p.Glu255Gly) c.1001A>G (p.Glu334Gly) c.692A>G (p.Glu231Gly) | gnomAD v4 |
| X | g.49255499T>G | CA412951015 | FOXP3 | c.641A>C (p.Glu214Ala) c.746A>C (p.Glu249Ala) c.815A>C (p.Glu272Ala) c.735+216A>C (n.735+216A>C) c.596A>C (p.Glu199Ala) c.965A>C (p.Glu322Ala) c.764A>C (p.Glu255Ala) c.1001A>C (p.Glu334Ala) c.692A>C (p.Glu231Ala) | |
| X | g.49255500C>A | CA412951016 | FOXP3 | c.640G>T (p.Glu214Ter) c.745G>T (p.Glu249Ter) c.814G>T (p.Glu272Ter) c.735+215G>T (n.735+215G>T) c.595G>T (p.Glu199Ter) c.964G>T (p.Glu322Ter) c.763G>T (p.Glu255Ter) c.1000G>T (p.Glu334Ter) c.691G>T (p.Glu231Ter) | |
| X | g.49255500C>G | CA412951018 | FOXP3 | c.640G>C (p.Glu214Gln) c.745G>C (p.Glu249Gln) c.814G>C (p.Glu272Gln) c.735+215G>C (n.735+215G>C) c.595G>C (p.Glu199Gln) c.964G>C (p.Glu322Gln) c.763G>C (p.Glu255Gln) c.1000G>C (p.Glu334Gln) c.691G>C (p.Glu231Gln) | |
| X | g.49255500C>T | CA412951017 | FOXP3 | c.640G>A (p.Glu214Lys) c.745G>A (p.Glu249Lys) c.814G>A (p.Glu272Lys) c.735+215G>A (n.735+215G>A) c.595G>A (p.Glu199Lys) c.964G>A (p.Glu322Lys) c.763G>A (p.Glu255Lys) c.1000G>A (p.Glu334Lys) c.691G>A (p.Glu231Lys) | |
| X | g.49255501C>A | CA516397214 | FOXP3 | c.639G>T (p.Leu213=) c.744G>T (p.Leu248=) c.813G>T (p.Leu271=) c.735+214G>T (n.735+214G>T) c.594G>T (p.Leu198=) c.963G>T (p.Leu321=) c.762G>T (p.Leu254=) c.999G>T (p.Leu333=) c.690G>T (p.Leu230=) | |
| X | g.49255501C>G | CA516397216 | FOXP3 | c.639G>C (p.Leu213=) c.744G>C (p.Leu248=) c.813G>C (p.Leu271=) c.735+214G>C (n.735+214G>C) c.594G>C (p.Leu198=) c.963G>C (p.Leu321=) c.762G>C (p.Leu254=) c.999G>C (p.Leu333=) c.690G>C (p.Leu230=) | |
| X | g.49255501C>T | CA516397217 | FOXP3 | c.639G>A (p.Leu213=) c.744G>A (p.Leu248=) c.813G>A (p.Leu271=) c.735+214G>A (n.735+214G>A) c.594G>A (p.Leu198=) c.963G>A (p.Leu321=) c.762G>A (p.Leu254=) c.999G>A (p.Leu333=) c.690G>A (p.Leu230=) | gnomAD v4 |
| X | g.49255502A>C | CA412951019 | FOXP3 | c.638T>G (p.Leu213Arg) c.743T>G (p.Leu248Arg) c.812T>G (p.Leu271Arg) c.735+213T>G (n.735+213T>G) c.593T>G (p.Leu198Arg) c.962T>G (p.Leu321Arg) c.761T>G (p.Leu254Arg) c.998T>G (p.Leu333Arg) c.689T>G (p.Leu230Arg) | |
| X | g.49255502A>G | CA412951020 | FOXP3 | c.638T>C (p.Leu213Pro) c.743T>C (p.Leu248Pro) c.812T>C (p.Leu271Pro) c.735+213T>C (n.735+213T>C) c.593T>C (p.Leu198Pro) c.962T>C (p.Leu321Pro) c.761T>C (p.Leu254Pro) c.998T>C (p.Leu333Pro) c.689T>C (p.Leu230Pro) | gnomAD v4 |
| X | g.49255502A>T | CA412951021 | FOXP3 | c.638T>A (p.Leu213Gln) c.743T>A (p.Leu248Gln) c.812T>A (p.Leu271Gln) c.735+213T>A (n.735+213T>A) c.593T>A (p.Leu198Gln) c.962T>A (p.Leu321Gln) c.761T>A (p.Leu254Gln) c.998T>A (p.Leu333Gln) c.689T>A (p.Leu230Gln) | |
| X | g.49255503G>A | CA516397221 | FOXP3 | c.637C>T (p.Leu213=) c.742C>T (p.Leu248=) c.811C>T (p.Leu271=) c.735+212C>T (n.735+212C>T) c.592C>T (p.Leu198=) c.961C>T (p.Leu321=) c.760C>T (p.Leu254=) c.997C>T (p.Leu333=) c.688C>T (p.Leu230=) | gnomAD v4 |
| X | g.49255503G>C | CA412951022 | FOXP3 | c.637C>G (p.Leu213Val) c.742C>G (p.Leu248Val) c.811C>G (p.Leu271Val) c.735+212C>G (n.735+212C>G) c.592C>G (p.Leu198Val) c.961C>G (p.Leu321Val) c.760C>G (p.Leu254Val) c.997C>G (p.Leu333Val) c.688C>G (p.Leu230Val) | |
| X | g.49255503G>T | CA412951023 | FOXP3 | c.637C>A (p.Leu213Met) c.742C>A (p.Leu248Met) c.811C>A (p.Leu271Met) c.735+212C>A (n.735+212C>A) c.592C>A (p.Leu198Met) c.961C>A (p.Leu321Met) c.760C>A (p.Leu254Met) c.997C>A (p.Leu333Met) c.688C>A (p.Leu230Met) | |
| X | g.49255504C>A | CA516397225 | FOXP3 | c.636G>T (p.Val212=) c.741G>T (p.Val247=) c.810G>T (p.Val270=) c.735+211G>T (n.735+211G>T) c.591G>T (p.Val197=) c.960G>T (p.Val320=) c.759G>T (p.Val253=) c.996G>T (p.Val332=) c.687G>T (p.Val229=) | gnomAD v4 |
| X | g.49255504C>G | CA516397227 | FOXP3 | c.636G>C (p.Val212=) c.741G>C (p.Val247=) c.810G>C (p.Val270=) c.735+211G>C (n.735+211G>C) c.591G>C (p.Val197=) c.960G>C (p.Val320=) c.759G>C (p.Val253=) c.996G>C (p.Val332=) c.687G>C (p.Val229=) | COSMIC |
| X | g.49255504C>T | CA516397228 | FOXP3 | c.636G>A (p.Val212=) c.741G>A (p.Val247=) c.810G>A (p.Val270=) c.735+211G>A (n.735+211G>A) c.591G>A (p.Val197=) c.960G>A (p.Val320=) c.759G>A (p.Val253=) c.996G>A (p.Val332=) c.687G>A (p.Val229=) | gnomAD v4 |
| X | g.49255505A>C | CA412951024 | FOXP3 | c.635T>G (p.Val212Gly) c.740T>G (p.Val247Gly) c.809T>G (p.Val270Gly) c.735+210T>G (n.735+210T>G) c.590T>G (p.Val197Gly) c.959T>G (p.Val320Gly) c.758T>G (p.Val253Gly) c.995T>G (p.Val332Gly) c.686T>G (p.Val229Gly) | |
| X | g.49255505A>G | CA412951025 | FOXP3 | c.635T>C (p.Val212Ala) c.740T>C (p.Val247Ala) c.809T>C (p.Val270Ala) c.735+210T>C (n.735+210T>C) c.590T>C (p.Val197Ala) c.959T>C (p.Val320Ala) c.758T>C (p.Val253Ala) c.995T>C (p.Val332Ala) c.686T>C (p.Val229Ala) | |
| X | g.49255505A>T | CA412951026 | FOXP3 | c.635T>A (p.Val212Glu) c.740T>A (p.Val247Glu) c.809T>A (p.Val270Glu) c.735+210T>A (n.735+210T>A) c.590T>A (p.Val197Glu) c.959T>A (p.Val320Glu) c.758T>A (p.Val253Glu) c.995T>A (p.Val332Glu) c.686T>A (p.Val229Glu) | |
| X | g.49255506C>A | CA412951028 | FOXP3 | c.634G>T (p.Val212Leu) c.739G>T (p.Val247Leu) c.808G>T (p.Val270Leu) c.735+209G>T (n.735+209G>T) c.589G>T (p.Val197Leu) c.958G>T (p.Val320Leu) c.757G>T (p.Val253Leu) c.994G>T (p.Val332Leu) c.685G>T (p.Val229Leu) | gnomAD v4 |
| X | g.49255506C>G | CA412951029 | FOXP3 | c.634G>C (p.Val212Leu) c.739G>C (p.Val247Leu) c.808G>C (p.Val270Leu) c.735+209G>C (n.735+209G>C) c.589G>C (p.Val197Leu) c.958G>C (p.Val320Leu) c.757G>C (p.Val253Leu) c.994G>C (p.Val332Leu) c.685G>C (p.Val229Leu) | |
| X | g.49255506C>T | CA412951030 | FOXP3 | c.634G>A (p.Val212Met) c.739G>A (p.Val247Met) c.808G>A (p.Val270Met) c.735+209G>A (n.735+209G>A) c.589G>A (p.Val197Met) c.958G>A (p.Val320Met) c.757G>A (p.Val253Met) c.994G>A (p.Val332Met) c.685G>A (p.Val229Met) | gnomAD v4 |
| X | g.49255507C>A | CA516397238 | FOXP3 | c.633G>T (p.Leu211=) c.738G>T (p.Leu246=) c.807G>T (p.Leu269=) c.735+208G>T (n.735+208G>T) c.588G>T (p.Leu196=) c.957G>T (p.Leu319=) c.756G>T (p.Leu252=) c.993G>T (p.Leu331=) c.684G>T (p.Leu228=) | gnomAD v4 |
| X | g.49255507C>G | CA516397240 | FOXP3 | c.633G>C (p.Leu211=) c.738G>C (p.Leu246=) c.807G>C (p.Leu269=) c.735+208G>C (n.735+208G>C) c.588G>C (p.Leu196=) c.957G>C (p.Leu319=) c.756G>C (p.Leu252=) c.993G>C (p.Leu331=) c.684G>C (p.Leu228=) | |
| X | g.49255507C>T | CA516397236 | FOXP3 | c.633G>A (p.Leu211=) c.738G>A (p.Leu246=) c.807G>A (p.Leu269=) c.735+208G>A (n.735+208G>A) c.588G>A (p.Leu196=) c.957G>A (p.Leu319=) c.756G>A (p.Leu252=) c.993G>A (p.Leu331=) c.684G>A (p.Leu228=) | |
| X | g.49255508A>C | CA412951033 | FOXP3 | c.632T>G (p.Leu211Arg) c.737T>G (p.Leu246Arg) c.806T>G (p.Leu269Arg) c.735+207T>G (n.735+207T>G) c.587T>G (p.Leu196Arg) c.956T>G (p.Leu319Arg) c.755T>G (p.Leu252Arg) c.992T>G (p.Leu331Arg) c.683T>G (p.Leu228Arg) | |
| X | g.49255508A>G | CA412951032 | FOXP3 | c.632T>C (p.Leu211Pro) c.737T>C (p.Leu246Pro) c.806T>C (p.Leu269Pro) c.735+207T>C (n.735+207T>C) c.587T>C (p.Leu196Pro) c.956T>C (p.Leu319Pro) c.755T>C (p.Leu252Pro) c.992T>C (p.Leu331Pro) c.683T>C (p.Leu228Pro) | |
| X | g.49255508A>T | CA412951031 | FOXP3 | c.632T>A (p.Leu211Gln) c.737T>A (p.Leu246Gln) c.806T>A (p.Leu269Gln) c.735+207T>A (n.735+207T>A) c.587T>A (p.Leu196Gln) c.956T>A (p.Leu319Gln) c.755T>A (p.Leu252Gln) c.992T>A (p.Leu331Gln) c.683T>A (p.Leu228Gln) |