UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.49258376T>A | CA412954064 | FOXP3 | c.130A>T (p.Thr44Ser) c.85A>T (p.Thr29Ser) c.454A>T (p.Thr152Ser) c.181A>T (p.Thr61Ser) | |
| X | g.49258376T>C | CA10411855 | FOXP3 | c.130A>G (p.Thr44Ala) c.85A>G (p.Thr29Ala) c.454A>G (p.Thr152Ala) c.181A>G (p.Thr61Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.49258376T>G | CA412954067 | FOXP3 | c.130A>C (p.Thr44Pro) c.85A>C (p.Thr29Pro) c.454A>C (p.Thr152Pro) c.181A>C (p.Thr61Pro) | |
| X | g.49258376T= | CA2428553587 | FOXP3 | c.130A= (p.Thr44=) c.85A= (p.Thr29=) c.454A= (p.Thr152=) c.181A= (p.Thr61=) | |
| X | g.49258377T>A | CA516399601 | FOXP3 | c.129A>T (p.Gly43=) c.84A>T (p.Gly28=) c.453A>T (p.Gly151=) c.180A>T (p.Gly60=) | |
| X | g.49258377T>C | CA516399603 | FOXP3 | c.129A>G (p.Gly43=) c.84A>G (p.Gly28=) c.453A>G (p.Gly151=) c.180A>G (p.Gly60=) | ClinVar dbSNP gnomAD v4 |
| X | g.49258377T>G | CA516399604 | FOXP3 | c.129A>C (p.Gly43=) c.84A>C (p.Gly28=) c.453A>C (p.Gly151=) c.180A>C (p.Gly60=) | |
| X | g.49258377T= | CA2428553589 | FOXP3 | c.129A= (p.Gly43=) c.84A= (p.Gly28=) c.453A= (p.Gly151=) c.180A= (p.Gly60=) | |
| X | g.49258377_49258378delinsTC | CA2428553588 | FOXP3 | c.128_129delinsGA (p.Gly43=) c.83_84delinsGA (p.Gly28=) c.452_453delinsGA (p.Gly151=) c.179_180delinsGA (p.Gly60=) | |
| X | g.49258378C>A | CA412954069 | FOXP3 | c.128G>T (p.Gly43Val) c.83G>T (p.Gly28Val) c.452G>T (p.Gly151Val) c.179G>T (p.Gly60Val) | |
| X | g.49258378C>G | CA412954071 | FOXP3 | c.128G>C (p.Gly43Ala) c.83G>C (p.Gly28Ala) c.452G>C (p.Gly151Ala) c.179G>C (p.Gly60Ala) | |
| X | g.49258378C>T | CA412954073 | FOXP3 | c.128G>A (p.Gly43Glu) c.83G>A (p.Gly28Glu) c.452G>A (p.Gly151Glu) c.179G>A (p.Gly60Glu) | |
| X | g.49258382dup | CA2693707663 | FOXP3 | c.128dup (p.Thr44AsnfsTer?) c.83dup (p.Thr29AsnfsTer?) c.452dup (p.Thr152AsnfsTer?) c.179dup (p.Thr61AsnfsTer?) | gnomAD v4 |
| X | g.49258382del | CA641530870 | FOXP3 | c.128del (p.Gly43GlufsTer?) c.128del (p.Gly43GlufsTer19) c.83del (p.Gly28GlufsTer19) c.452del (p.Gly151GlufsTer19) c.179del (p.Gly60GlufsTer19) | dbSNP gnomAD v2 |
| X | g.49258379C>A | CA412954077 | FOXP3 | c.127G>T (p.Gly43Ter) c.82G>T (p.Gly28Ter) c.451G>T (p.Gly151Ter) c.178G>T (p.Gly60Ter) | gnomAD v4 |
| X | g.49258379C>G | CA412954079 | FOXP3 | c.127G>C (p.Gly43Arg) c.82G>C (p.Gly28Arg) c.451G>C (p.Gly151Arg) c.178G>C (p.Gly60Arg) | |
| X | g.49258379C>T | CA412954075 | FOXP3 | c.127G>A (p.Gly43Arg) c.82G>A (p.Gly28Arg) c.451G>A (p.Gly151Arg) c.178G>A (p.Gly60Arg) | |
| X | g.49258380C>A | CA516399611 | FOXP3 | c.126G>T (p.Gly42=) c.81G>T (p.Gly27=) c.450G>T (p.Gly150=) c.177G>T (p.Gly59=) | |
| X | g.49258380C= | CA2428553590 | FOXP3 | c.126G= (p.Gly42=) c.81G= (p.Gly27=) c.450G= (p.Gly150=) c.177G= (p.Gly59=) | |
| X | g.49258380C>G | CA516399614 | FOXP3 | c.126G>C (p.Gly42=) c.81G>C (p.Gly27=) c.450G>C (p.Gly150=) c.177G>C (p.Gly59=) | |
| X | g.49258380C>T | CA10411856 | FOXP3 | c.126G>A (p.Gly42=) c.81G>A (p.Gly27=) c.450G>A (p.Gly150=) c.177G>A (p.Gly59=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.49258381C>A | CA412954082 | FOXP3 | c.125G>T (p.Gly42Val) c.80G>T (p.Gly27Val) c.449G>T (p.Gly150Val) c.176G>T (p.Gly59Val) | gnomAD v4 |
| X | g.49258381C>G | CA412954084 | FOXP3 | c.125G>C (p.Gly42Ala) c.80G>C (p.Gly27Ala) c.449G>C (p.Gly150Ala) c.176G>C (p.Gly59Ala) | |
| X | g.49258381C>T | CA412954085 | FOXP3 | c.125G>A (p.Gly42Glu) c.80G>A (p.Gly27Glu) c.449G>A (p.Gly150Glu) c.176G>A (p.Gly59Glu) | |
| X | g.49258382C>A | CA412954087 | FOXP3 | c.124G>T (p.Gly42Trp) c.79G>T (p.Gly27Trp) c.448G>T (p.Gly150Trp) c.175G>T (p.Gly59Trp) | gnomAD v4 |
| X | g.49258382C= | CA2428553591 | FOXP3 | c.124G= (p.Gly42=) c.79G= (p.Gly27=) c.448G= (p.Gly150=) c.175G= (p.Gly59=) | |
| X | g.49258382C>G | CA412954089 | FOXP3 | c.124G>C (p.Gly42Arg) c.79G>C (p.Gly27Arg) c.448G>C (p.Gly150Arg) c.175G>C (p.Gly59Arg) | |
| X | g.49258382C>T | CA10411857 | FOXP3 | c.124G>A (p.Gly42Arg) c.79G>A (p.Gly27Arg) c.448G>A (p.Gly150Arg) c.175G>A (p.Gly59Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.49258383T>A | CA516399622 | FOXP3 | c.123A>T (p.Pro41=) c.78A>T (p.Pro26=) c.447A>T (p.Pro149=) c.174A>T (p.Pro58=) | |
| X | g.49258383T>C | CA516399624 | FOXP3 | c.123A>G (p.Pro41=) c.78A>G (p.Pro26=) c.447A>G (p.Pro149=) c.174A>G (p.Pro58=) | |
| X | g.49258383T>G | CA516399625 | FOXP3 | c.123A>C (p.Pro41=) c.78A>C (p.Pro26=) c.447A>C (p.Pro149=) c.174A>C (p.Pro58=) | |
| X | g.49258384G>A | CA412954092 | FOXP3 | c.122C>T (p.Pro41Leu) c.77C>T (p.Pro26Leu) c.446C>T (p.Pro149Leu) c.173C>T (p.Pro58Leu) | |
| X | g.49258384G>C | CA412954094 | FOXP3 | c.122C>G (p.Pro41Arg) c.77C>G (p.Pro26Arg) c.446C>G (p.Pro149Arg) c.173C>G (p.Pro58Arg) | |
| X | g.49258384G>T | CA412954095 | FOXP3 | c.122C>A (p.Pro41Gln) c.77C>A (p.Pro26Gln) c.446C>A (p.Pro149Gln) c.173C>A (p.Pro58Gln) | |
| X | g.49258385G>A | CA412954097 | FOXP3 | c.121C>T (p.Pro41Ser) c.76C>T (p.Pro26Ser) c.445C>T (p.Pro149Ser) c.172C>T (p.Pro58Ser) | |
| X | g.49258385G>C | CA412954099 | FOXP3 | c.121C>G (p.Pro41Ala) c.76C>G (p.Pro26Ala) c.445C>G (p.Pro149Ala) c.172C>G (p.Pro58Ala) | |
| X | g.49258385G>T | CA412954101 | FOXP3 | c.121C>A (p.Pro41Thr) c.76C>A (p.Pro26Thr) c.445C>A (p.Pro149Thr) c.172C>A (p.Pro58Thr) | gnomAD v4 |
| X | g.49258386G>A | CA516399633 | FOXP3 | c.120C>T (p.Gly40=) c.75C>T (p.Gly25=) c.444C>T (p.Gly148=) c.171C>T (p.Gly57=) | gnomAD v4 |
| X | g.49258386G>C | CA516399634 | FOXP3 | c.120C>G (p.Gly40=) c.75C>G (p.Gly25=) c.444C>G (p.Gly148=) c.171C>G (p.Gly57=) | |
| X | g.49258386G>T | CA516399636 | FOXP3 | c.120C>A (p.Gly40=) c.75C>A (p.Gly25=) c.444C>A (p.Gly148=) c.171C>A (p.Gly57=) | gnomAD v4 |
| X | g.49258387C>A | CA412954106 | FOXP3 | c.119G>T (p.Gly40Val) c.74G>T (p.Gly25Val) c.443G>T (p.Gly148Val) c.170G>T (p.Gly57Val) | |
| X | g.49258387C= | CA2428553592 | FOXP3 | c.119G= (p.Gly40=) c.74G= (p.Gly25=) c.443G= (p.Gly148=) c.170G= (p.Gly57=) | |
| X | g.49258387C>G | CA412954104 | FOXP3 | c.119G>C (p.Gly40Ala) c.74G>C (p.Gly25Ala) c.443G>C (p.Gly148Ala) c.170G>C (p.Gly57Ala) | |
| X | g.49258387C>T | CA10411858 | FOXP3 | c.119G>A (p.Gly40Asp) c.74G>A (p.Gly25Asp) c.443G>A (p.Gly148Asp) c.170G>A (p.Gly57Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.49258388C>A | CA412954108 | FOXP3 | c.118G>T (p.Gly40Cys) c.73G>T (p.Gly25Cys) c.442G>T (p.Gly148Cys) c.169G>T (p.Gly57Cys) | gnomAD v4 |
| X | g.49258388C>G | CA412954110 | FOXP3 | c.118G>C (p.Gly40Arg) c.73G>C (p.Gly25Arg) c.442G>C (p.Gly148Arg) c.169G>C (p.Gly57Arg) | gnomAD v4 |
| X | g.49258388C>T | CA412954111 | FOXP3 | c.118G>A (p.Gly40Ser) c.73G>A (p.Gly25Ser) c.442G>A (p.Gly148Ser) c.169G>A (p.Gly57Ser) | |
| X | g.49258389C>A | CA516399647 | FOXP3 | c.117G>T (p.Arg39=) c.72G>T (p.Arg24=) c.441G>T (p.Arg147=) c.168G>T (p.Arg56=) | gnomAD v4 |
| X | g.49258389C>G | CA516399645 | FOXP3 | c.117G>C (p.Arg39=) c.72G>C (p.Arg24=) c.441G>C (p.Arg147=) c.168G>C (p.Arg56=) | |
| X | g.49258389C>T | CA516399644 | FOXP3 | c.117G>A (p.Arg39=) c.72G>A (p.Arg24=) c.441G>A (p.Arg147=) c.168G>A (p.Arg56=) | gnomAD v4 |