WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.11748963G>A | CA210836 | GATA4 | c.661G>A (p.Gly221Arg) c.664G>A (p.Gly222Arg) c.43G>A (p.Gly15Arg) c.658G>A (p.Gly220Arg) | ClinVar dbSNP |
| 8 | g.11748963G>C | CA370312624 | GATA4 | c.661G>C (p.Gly221Arg) c.664G>C (p.Gly222Arg) c.43G>C (p.Gly15Arg) c.658G>C (p.Gly220Arg) | |
| 8 | g.11748963G= | CA1764079660 | GATA4 | c.661G= (p.Gly221=) c.664G= (p.Gly222=) c.43G= (p.Gly15=) c.658G= (p.Gly220=) | |
| 8 | g.11748963G>T | CA370312625 | GATA4 | c.661G>T (p.Gly221Trp) c.664G>T (p.Gly222Trp) c.43G>T (p.Gly15Trp) c.658G>T (p.Gly220Trp) | COSMIC |
| 8 | g.11748964G>A | CA370312626 | GATA4 | c.662G>A (p.Gly221Glu) c.665G>A (p.Gly222Glu) c.44G>A (p.Gly15Glu) c.659G>A (p.Gly220Glu) | |
| 8 | g.11748964G>C | CA370312628 | GATA4 | c.662G>C (p.Gly221Ala) c.665G>C (p.Gly222Ala) c.44G>C (p.Gly15Ala) c.659G>C (p.Gly220Ala) | |
| 8 | g.11748964G>T | CA370312627 | GATA4 | c.662G>T (p.Gly221Val) c.665G>T (p.Gly222Val) c.44G>T (p.Gly15Val) c.659G>T (p.Gly220Val) | |
| 8 | g.11748965G>A | CA459310178 | GATA4 | c.663G>A (p.Gly221=) c.666G>A (p.Gly222=) c.45G>A (p.Gly15=) c.660G>A (p.Gly220=) | dbSNP |
| 8 | g.11748965G>C | CA459310180 | GATA4 | c.663G>C (p.Gly221=) c.666G>C (p.Gly222=) c.45G>C (p.Gly15=) c.660G>C (p.Gly220=) | |
| 8 | g.11748965G= | CA1764079663 | GATA4 | c.663G= (p.Gly221=) c.666G= (p.Gly222=) c.45G= (p.Gly15=) c.660G= (p.Gly220=) | |
| 8 | g.11748965G>T | CA459310181 | GATA4 | c.663G>T (p.Gly221=) c.666G>T (p.Gly222=) c.45G>T (p.Gly15=) c.660G>T (p.Gly220=) | |
| 8 | g.11748966G>A | CA370312629 | GATA4 | c.664G>A (p.Ala222Thr) c.667G>A (p.Ala223Thr) c.46G>A (p.Ala16Thr) c.661G>A (p.Ala221Thr) | ClinVar dbSNP gnomAD v4 |
| 8 | g.11748966G>C | CA370312630 | GATA4 | c.664G>C (p.Ala222Pro) c.667G>C (p.Ala223Pro) c.46G>C (p.Ala16Pro) c.661G>C (p.Ala221Pro) | |
| 8 | g.11748966G= | CA1764079666 | GATA4 | c.664G= (p.Ala222=) c.667G= (p.Ala223=) c.46G= (p.Ala16=) c.661G= (p.Ala221=) | |
| 8 | g.11748966G>T | CA370312631 | GATA4 | c.664G>T (p.Ala222Ser) c.667G>T (p.Ala223Ser) c.46G>T (p.Ala16Ser) c.661G>T (p.Ala221Ser) | |
| 8 | g.11748967C>A | CA370312632 | GATA4 | c.665C>A (p.Ala222Asp) c.668C>A (p.Ala223Asp) c.47C>A (p.Ala16Asp) c.662C>A (p.Ala221Asp) | |
| 8 | g.11748967C>G | CA370312633 | GATA4 | c.665C>G (p.Ala222Gly) c.668C>G (p.Ala223Gly) c.47C>G (p.Ala16Gly) c.662C>G (p.Ala221Gly) | |
| 8 | g.11748967C>T | CA370312634 | GATA4 | c.665C>T (p.Ala222Val) c.668C>T (p.Ala223Val) c.47C>T (p.Ala16Val) c.662C>T (p.Ala221Val) | |
| 8 | g.11748968T>A | CA459310188 | GATA4 | c.666T>A (p.Ala222=) c.669T>A (p.Ala223=) c.48T>A (p.Ala16=) c.663T>A (p.Ala221=) | |
| 8 | g.11748968T>C | CA459310189 | GATA4 | c.666T>C (p.Ala222=) c.669T>C (p.Ala223=) c.48T>C (p.Ala16=) c.663T>C (p.Ala221=) | |
| 8 | g.11748968T>G | CA459310191 | GATA4 | c.666T>G (p.Ala222=) c.669T>G (p.Ala223=) c.48T>G (p.Ala16=) c.663T>G (p.Ala221=) | |
| 8 | g.11748969A= | CA1764079669 | GATA4 | c.667A= (p.Met223=) c.670A= (p.Met224=) c.49A= (p.Met17=) c.664A= (p.Met222=) | |
| 8 | g.11748969A>C | CA172113118 | GATA4 | c.667A>C (p.Met223Leu) c.670A>C (p.Met224Leu) c.49A>C (p.Met17Leu) c.664A>C (p.Met222Leu) | dbSNP |
| 8 | g.11748969A>G | CA370312635 | GATA4 | c.667A>G (p.Met223Val) c.670A>G (p.Met224Val) c.49A>G (p.Met17Val) c.664A>G (p.Met222Val) | |
| 8 | g.11748969A>T | CA370312636 | GATA4 | c.667A>T (p.Met223Leu) c.670A>T (p.Met224Leu) c.49A>T (p.Met17Leu) c.664A>T (p.Met222Leu) | |
| 8 | g.11748970T>A | CA370312637 | GATA4 | c.668T>A (p.Met223Lys) c.671T>A (p.Met224Lys) c.50T>A (p.Met17Lys) c.665T>A (p.Met222Lys) | |
| 8 | g.11748970T>C | CA370312638 | GATA4 | c.668T>C (p.Met223Thr) c.671T>C (p.Met224Thr) c.50T>C (p.Met17Thr) c.665T>C (p.Met222Thr) | |
| 8 | g.11748970T>G | CA370312639 | GATA4 | c.668T>G (p.Met223Arg) c.671T>G (p.Met224Arg) c.50T>G (p.Met17Arg) c.665T>G (p.Met222Arg) | |
| 8 | g.11748971G>A | CA370312641 | GATA4 | c.669G>A (p.Met223Ile) c.672G>A (p.Met224Ile) c.51G>A (p.Met17Ile) c.666G>A (p.Met222Ile) | |
| 8 | g.11748971G>C | CA370312642 | GATA4 | c.669G>C (p.Met223Ile) c.672G>C (p.Met224Ile) c.51G>C (p.Met17Ile) c.666G>C (p.Met222Ile) | |
| 8 | g.11748971G>T | CA370312640 | GATA4 | c.669G>T (p.Met223Ile) c.672G>T (p.Met224Ile) c.51G>T (p.Met17Ile) c.666G>T (p.Met222Ile) | |
| 8 | g.11748972T>A | CA370312645 | GATA4 | c.670T>A (p.Ser224Thr) c.673T>A (p.Ser225Thr) c.52T>A (p.Ser18Thr) c.667T>A (p.Ser223Thr) | |
| 8 | g.11748972T>C | CA370312643 | GATA4 | c.670T>C (p.Ser224Pro) c.673T>C (p.Ser225Pro) c.52T>C (p.Ser18Pro) c.667T>C (p.Ser223Pro) | |
| 8 | g.11748972T>G | CA370312644 | GATA4 | c.670T>G (p.Ser224Ala) c.673T>G (p.Ser225Ala) c.52T>G (p.Ser18Ala) c.667T>G (p.Ser223Ala) | |
| 8 | g.11748973C>A | CA370312646 | GATA4 | c.671C>A (p.Ser224Tyr) c.674C>A (p.Ser225Tyr) c.53C>A (p.Ser18Tyr) c.668C>A (p.Ser223Tyr) | |
| 8 | g.11748973C>G | CA370312647 | GATA4 | c.671C>G (p.Ser224Cys) c.674C>G (p.Ser225Cys) c.53C>G (p.Ser18Cys) c.668C>G (p.Ser223Cys) | |
| 8 | g.11748973C>T | CA370312648 | GATA4 | c.671C>T (p.Ser224Phe) c.674C>T (p.Ser225Phe) c.53C>T (p.Ser18Phe) c.668C>T (p.Ser223Phe) | |
| 8 | g.11748974C>A | CA459310207 | GATA4 | c.672C>A (p.Ser224=) c.675C>A (p.Ser225=) c.54C>A (p.Ser18=) c.669C>A (p.Ser223=) | |
| 8 | g.11748974C>G | CA459310205 | GATA4 | c.672C>G (p.Ser224=) c.675C>G (p.Ser225=) c.54C>G (p.Ser18=) c.669C>G (p.Ser223=) | |
| 8 | g.11748974C>T | CA459310203 | GATA4 | c.672C>T (p.Ser224=) c.675C>T (p.Ser225=) c.54C>T (p.Ser18=) c.669C>T (p.Ser223=) | |
| 8 | g.11748975A= | CA1764079671 | GATA4 | c.673A= (p.Thr225=) c.676A= (p.Thr226=) c.55A= (p.Thr19=) c.670A= (p.Thr224=) | |
| 8 | g.11748975A>C | CA370312649 | GATA4 | c.673A>C (p.Thr225Pro) c.676A>C (p.Thr226Pro) c.55A>C (p.Thr19Pro) c.670A>C (p.Thr224Pro) | dbSNP |
| 8 | g.11748975A>G | CA370312650 | GATA4 | c.673A>G (p.Thr225Ala) c.676A>G (p.Thr226Ala) c.55A>G (p.Thr19Ala) c.670A>G (p.Thr224Ala) | |
| 8 | g.11748975A>T | CA370312651 | GATA4 | c.673A>T (p.Thr225Ser) c.676A>T (p.Thr226Ser) c.55A>T (p.Thr19Ser) c.670A>T (p.Thr224Ser) | |
| 8 | g.11748976C>A | CA370312652 | GATA4 | c.674C>A (p.Thr225Asn) c.677C>A (p.Thr226Asn) c.56C>A (p.Thr19Asn) c.671C>A (p.Thr224Asn) | |
| 8 | g.11748976C>G | CA370312653 | GATA4 | c.674C>G (p.Thr225Ser) c.677C>G (p.Thr226Ser) c.56C>G (p.Thr19Ser) c.671C>G (p.Thr224Ser) | |
| 8 | g.11748976C>T | CA370312654 | GATA4 | c.674C>T (p.Thr225Ile) c.677C>T (p.Thr226Ile) c.56C>T (p.Thr19Ile) c.671C>T (p.Thr224Ile) | gnomAD v4 |
| 8 | g.11748979del | CA2695208946 | GATA4 | c.677del (p.Pro226ArgfsTer22) c.680del (p.Pro227ArgfsTer22) c.59del (p.Pro20ArgfsTer22) c.674del (p.Pro225ArgfsTer22) | |
| 8 | g.11748977C>A | CA459310214 | GATA4 | c.675C>A (p.Thr225=) c.678C>A (p.Thr226=) c.57C>A (p.Thr19=) c.672C>A (p.Thr224=) | ClinVar |
| 8 | g.11748977C= | CA1764079675 | GATA4 | c.675C= (p.Thr225=) c.678C= (p.Thr226=) c.57C= (p.Thr19=) c.672C= (p.Thr224=) |