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.49258464_49258482del | CA2695233635 | FOXP3 | c.29_47del (p.Ser10LeufsTer?) c.17-33_17-15del (n.17-33_17-15del) c.353_371del (p.Ser118LeufsTer?) c.80_98del (p.Ser27LeufsTer?) | |
| X | g.49258476C>A | CA516399864 | FOXP3 | c.30G>T (p.Ser10=) c.17-32G>T (n.17-32G>T) c.354G>T (p.Ser118=) c.81G>T (p.Ser27=) | gnomAD v4 |
| X | g.49258476C= | CA2428553619 | FOXP3 | c.30G= (p.Ser10=) c.17-32G= (n.17-32G=) c.354G= (p.Ser118=) c.81G= (p.Ser27=) | |
| X | g.49258476C>G | CA516399865 | FOXP3 | c.30G>C (p.Ser10=) c.17-32G>C (n.17-32G>C) c.354G>C (p.Ser118=) c.81G>C (p.Ser27=) | |
| X | g.49258476C>T | CA10411868 | FOXP3 | c.30G>A (p.Ser10=) c.17-32G>A (n.17-32G>A) c.354G>A (p.Ser118=) c.81G>A (p.Ser27=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.49258477G>A | CA10411869 | FOXP3 | c.29C>T (p.Ser10Leu) c.17-33C>T (n.17-33C>T) c.353C>T (p.Ser118Leu) c.80C>T (p.Ser27Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.49258477G>C | CA412954345 | FOXP3 | c.29C>G (p.Ser10Trp) c.17-33C>G (n.17-33C>G) c.353C>G (p.Ser118Trp) c.80C>G (p.Ser27Trp) | |
| X | g.49258477G= | CA2428553620 | FOXP3 | c.29C= (p.Ser10=) c.17-33C= (n.17-33C=) c.353C= (p.Ser118=) c.80C= (p.Ser27=) | |
| X | g.49258477G>T | CA329137091 | FOXP3 | c.29C>A (p.Ser10Ter) c.17-33C>A (n.17-33C>A) c.353C>A (p.Ser118Ter) c.80C>A (p.Ser27Ter) | dbSNP gnomAD v4 |
| X | g.49258478A>C | CA412954346 | FOXP3 | c.28T>G (p.Ser10Ala) c.17-34T>G (n.17-34T>G) c.352T>G (p.Ser118Ala) c.79T>G (p.Ser27Ala) | |
| X | g.49258478A>G | CA412954347 | FOXP3 | c.28T>C (p.Ser10Pro) c.17-34T>C (n.17-34T>C) c.352T>C (p.Ser118Pro) c.79T>C (p.Ser27Pro) | gnomAD v4 |
| X | g.49258478A>T | CA412954348 | FOXP3 | c.28T>A (p.Ser10Thr) c.17-34T>A (n.17-34T>A) c.352T>A (p.Ser118Thr) c.79T>A (p.Ser27Thr) | gnomAD v4 |
| X | g.49258479G>A | CA516399875 | FOXP3 | c.27C>T (p.Pro9=) c.17-35C>T (n.17-35C>T) c.351C>T (p.Pro117=) c.78C>T (p.Pro26=) | |
| X | g.49258479G>C | CA516399877 | FOXP3 | c.27C>G (p.Pro9=) c.17-35C>G (n.17-35C>G) c.351C>G (p.Pro117=) c.78C>G (p.Pro26=) | |
| X | g.49258479G>T | CA516399878 | FOXP3 | c.27C>A (p.Pro9=) c.17-35C>A (n.17-35C>A) c.351C>A (p.Pro117=) c.78C>A (p.Pro26=) | gnomAD v4 |
| X | g.49258480G>A | CA412954349 | FOXP3 | c.26C>T (p.Pro9Leu) c.17-36C>T (n.17-36C>T) c.350C>T (p.Pro117Leu) c.77C>T (p.Pro26Leu) | gnomAD v4 |
| X | g.49258480G>C | CA412954350 | FOXP3 | c.26C>G (p.Pro9Arg) c.17-36C>G (n.17-36C>G) c.350C>G (p.Pro117Arg) c.77C>G (p.Pro26Arg) | |
| X | g.49258480G>T | CA412954351 | FOXP3 | c.26C>A (p.Pro9His) c.17-36C>A (n.17-36C>A) c.350C>A (p.Pro117His) c.77C>A (p.Pro26His) | |
| X | g.49258481G>A | CA412954352 | FOXP3 | c.25C>T (p.Pro9Ser) c.17-37C>T (n.17-37C>T) c.349C>T (p.Pro117Ser) c.76C>T (p.Pro26Ser) | gnomAD v4 |
| X | g.49258481G>C | CA412954353 | FOXP3 | c.25C>G (p.Pro9Ala) c.17-37C>G (n.17-37C>G) c.349C>G (p.Pro117Ala) c.76C>G (p.Pro26Ala) | |
| X | g.49258481G>T | CA412954354 | FOXP3 | c.25C>A (p.Pro9Thr) c.17-37C>A (n.17-37C>A) c.349C>A (p.Pro117Thr) c.76C>A (p.Pro26Thr) | gnomAD v4 |
| X | g.49258482C>A | CA412954355 | FOXP3 | c.24G>T (p.Lys8Asn) c.17-38G>T (n.17-38G>T) c.348G>T (p.Lys116Asn) c.75G>T (p.Lys25Asn) | gnomAD v4 |
| X | g.49258482C>G | CA412954356 | FOXP3 | c.24G>C (p.Lys8Asn) c.17-38G>C (n.17-38G>C) c.348G>C (p.Lys116Asn) c.75G>C (p.Lys25Asn) | |
| X | g.49258482C>T | CA516399888 | FOXP3 | c.24G>A (p.Lys8=) c.17-38G>A (n.17-38G>A) c.348G>A (p.Lys116=) c.75G>A (p.Lys25=) | gnomAD v4 |
| X | g.49258483T>A | CA412954359 | FOXP3 | c.23A>T (p.Lys8Met) c.17-39A>T (n.17-39A>T) c.347A>T (p.Lys116Met) c.74A>T (p.Lys25Met) | |
| X | g.49258483T>C | CA412954358 | FOXP3 | c.23A>G (p.Lys8Arg) c.17-39A>G (n.17-39A>G) c.347A>G (p.Lys116Arg) c.74A>G (p.Lys25Arg) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.49258483T>G | CA412954357 | FOXP3 | c.23A>C (p.Lys8Thr) c.17-39A>C (n.17-39A>C) c.347A>C (p.Lys116Thr) c.74A>C (p.Lys25Thr) | |
| X | g.49258483T= | CA2428553621 | FOXP3 | c.23A= (p.Lys8=) c.17-39A= (n.17-39A=) c.347A= (p.Lys116=) c.74A= (p.Lys25=) | |
| X | g.49258484T>A | CA412954360 | FOXP3 | c.22A>T (p.Lys8Ter) c.17-40A>T (n.17-40A>T) c.346A>T (p.Lys116Ter) c.73A>T (p.Lys25Ter) | |
| X | g.49258484T>C | CA412954362 | FOXP3 | c.22A>G (p.Lys8Glu) c.17-40A>G (n.17-40A>G) c.346A>G (p.Lys116Glu) c.73A>G (p.Lys25Glu) | |
| X | g.49258484T>G | CA412954361 | FOXP3 | c.22A>C (p.Lys8Gln) c.17-40A>C (n.17-40A>C) c.346A>C (p.Lys116Gln) c.73A>C (p.Lys25Gln) | |
| X | g.49258485G>A | CA516399900 | FOXP3 | c.21C>T (p.Gly7=) c.17-41C>T (n.17-41C>T) c.345C>T (p.Gly115=) c.72C>T (p.Gly24=) | gnomAD v4 |
| X | g.49258485G>C | CA516399901 | FOXP3 | c.21C>G (p.Gly7=) c.17-41C>G (n.17-41C>G) c.345C>G (p.Gly115=) c.72C>G (p.Gly24=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.49258485G= | CA2428553622 | FOXP3 | c.21C= (p.Gly7=) c.17-41C= (n.17-41C=) c.345C= (p.Gly115=) c.72C= (p.Gly24=) | |
| X | g.49258485G>T | CA516399897 | FOXP3 | c.21C>A (p.Gly7=) c.17-41C>A (n.17-41C>A) c.345C>A (p.Gly115=) c.72C>A (p.Gly24=) | gnomAD v4 |
| X | g.49258486C>A | CA412954363 | FOXP3 | c.20G>T (p.Gly7Val) c.17-42G>T (n.17-42G>T) c.344G>T (p.Gly115Val) c.71G>T (p.Gly24Val) | gnomAD v4 |
| X | g.49258486C= | CA2428553623 | FOXP3 | c.20G= (p.Gly7=) c.17-42G= (n.17-42G=) c.344G= (p.Gly115=) c.71G= (p.Gly24=) | |
| X | g.49258486C>G | CA412954364 | FOXP3 | c.20G>C (p.Gly7Ala) c.17-42G>C (n.17-42G>C) c.344G>C (p.Gly115Ala) c.71G>C (p.Gly24Ala) | ClinVar dbSNP gnomAD v4 |
| X | g.49258486C>T | CA412954365 | FOXP3 | c.20G>A (p.Gly7Asp) c.17-42G>A (n.17-42G>A) c.344G>A (p.Gly115Asp) c.71G>A (p.Gly24Asp) | gnomAD v4 |
| X | g.49258487C>A | CA412954366 | FOXP3 | c.19G>T (p.Gly7Cys) c.17-43G>T (n.17-43G>T) c.343G>T (p.Gly115Cys) c.70G>T (p.Gly24Cys) | gnomAD v4 |
| X | g.49258487C>G | CA412954367 | FOXP3 | c.19G>C (p.Gly7Arg) c.17-43G>C (n.17-43G>C) c.343G>C (p.Gly115Arg) c.70G>C (p.Gly24Arg) | gnomAD v4 |
| X | g.49258487C>T | CA412954368 | FOXP3 | c.19G>A (p.Gly7Ser) c.17-43G>A (n.17-43G>A) c.343G>A (p.Gly115Ser) c.70G>A (p.Gly24Ser) | gnomAD v4 |
| X | g.49258488A= | CA2428553624 | FOXP3 | c.18T= (p.Pro6=) c.17-44T= (n.17-44T=) c.342T= (p.Pro114=) c.69T= (p.Pro23=) | |
| X | g.49258488A>C | CA516399908 | FOXP3 | c.18T>G (p.Pro6=) c.17-44T>G (n.17-44T>G) c.342T>G (p.Pro114=) c.69T>G (p.Pro23=) | |
| X | g.49258488A>G | CA516399910 | FOXP3 | c.18T>C (p.Pro6=) c.17-44T>C (n.17-44T>C) c.342T>C (p.Pro114=) c.69T>C (p.Pro23=) | gnomAD v4 |
| X | g.49258488A>T | CA516399912 | FOXP3 | c.18T>A (p.Pro6=) c.17-44T>A (n.17-44T>A) c.342T>A (p.Pro114=) c.69T>A (p.Pro23=) | dbSNP gnomAD v4 |
| X | g.49258489G>A | CA412954369 | FOXP3 | c.17C>T (p.Pro6Leu) c.17-45C>T (n.17-45C>T) c.341C>T (p.Pro114Leu) c.68C>T (p.Pro23Leu) | gnomAD v4 |
| X | g.49258489G>C | CA412954370 | FOXP3 | c.17C>G (p.Pro6Arg) c.17-45C>G (n.17-45C>G) c.341C>G (p.Pro114Arg) c.68C>G (p.Pro23Arg) | |
| X | g.49258489G>T | CA412954371 | FOXP3 | c.17C>A (p.Pro6His) c.17-45C>A (n.17-45C>A) c.341C>A (p.Pro114His) c.68C>A (p.Pro23His) | gnomAD v4 |
| X | g.49258490del | CA2695200202 | FOXP3 | c.17del (p.Pro6LeufsTer?) c.17-45del (n.17-45del) c.341del (p.Pro114LeufsTer?) c.68del (p.Pro23LeufsTer?) | ClinVar |