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 |
|---|---|---|---|---|---|
| 1 | g.243637592A>C | CA2651311357 | AKT3 | c.561+19T>G (n.561+19T>G) c.318+19T>G (n.318+19T>G) c.378+19T>G (n.378+19T>G) c.435+19T>G (n.435+19T>G) | gnomAD v4 |
| 1 | g.243637593C>G | CA2574462117 | AKT3 | c.561+18G>C (n.561+18G>C) c.318+18G>C (n.318+18G>C) c.378+18G>C (n.378+18G>C) c.435+18G>C (n.435+18G>C) | gnomAD v4 |
| 1 | g.243637594T>C | CA2574462118 | AKT3 | c.561+17A>G (n.561+17A>G) c.318+17A>G (n.318+17A>G) c.378+17A>G (n.378+17A>G) c.435+17A>G (n.435+17A>G) | gnomAD v4 |
| 1 | g.243637597A>G | CA2651311414 | AKT3 | c.561+14T>C (n.561+14T>C) c.318+14T>C (n.318+14T>C) c.378+14T>C (n.378+14T>C) c.435+14T>C (n.435+14T>C) | gnomAD v4 |
| 1 | g.243637599T>A | CA2651311415 | AKT3 | c.561+12A>T (n.561+12A>T) c.318+12A>T (n.318+12A>T) c.378+12A>T (n.378+12A>T) c.435+12A>T (n.435+12A>T) | gnomAD v4 |
| 1 | g.243637599_243637600delinsTA | CA1230479399 | AKT3 | c.561+11_561+12delinsTA (n.561+11_561+12delinsTA) c.318+11_318+12delinsTA (n.318+11_318+12delinsTA) c.378+11_378+12delinsTA (n.378+11_378+12delinsTA) c.435+11_435+12delinsTA (n.435+11_435+12delinsTA) | |
| 1 | g.243637600A>G | CA2651311417 | AKT3 | c.561+11T>C (n.561+11T>C) c.318+11T>C (n.318+11T>C) c.378+11T>C (n.378+11T>C) c.435+11T>C (n.435+11T>C) | gnomAD v4 |
| 1 | g.243637600A>T | CA2651311419 | AKT3 | c.561+11T>A (n.561+11T>A) c.318+11T>A (n.318+11T>A) c.378+11T>A (n.378+11T>A) c.435+11T>A (n.435+11T>A) | gnomAD v4 |
| 1 | g.243637602del | CA530259881 | AKT3 | c.561+11del (n.561+11del) c.318+11del (n.318+11del) c.378+11del (n.378+11del) c.435+11del (n.435+11del) | dbSNP gnomAD v2 |
| 1 | g.243637601A= | CA1230479400 | AKT3 | c.561+10T= (n.561+10T=) c.318+10T= (n.318+10T=) c.378+10T= (n.378+10T=) c.435+10T= (n.435+10T=) | |
| 1 | g.243637601A>C | CA1230479401 | AKT3 | c.561+10T>G (n.561+10T>G) c.318+10T>G (n.318+10T>G) c.378+10T>G (n.378+10T>G) c.435+10T>G (n.435+10T>G) | dbSNP |
| 1 | g.243637605A>T | CA2698417679 | AKT3 | c.561+6T>A (n.561+6T>A) c.318+6T>A (n.318+6T>A) c.378+6T>A (n.378+6T>A) c.435+6T>A (n.435+6T>A) | dbSNP |
| 1 | g.243637606G>C | CA2698417746 | AKT3 | c.561+5C>G (n.561+5C>G) c.318+5C>G (n.318+5C>G) c.378+5C>G (n.378+5C>G) c.435+5C>G (n.435+5C>G) | dbSNP |
| 1 | g.243637607T>C | CA2651311420 | AKT3 | c.561+4A>G (n.561+4A>G) c.318+4A>G (n.318+4A>G) c.378+4A>G (n.378+4A>G) c.435+4A>G (n.435+4A>G) | gnomAD v4 |
| 1 | g.243637609A>C | CA345669634 | AKT3 | c.561+2T>G (n.561+2T>G) c.318+2T>G (n.318+2T>G) c.378+2T>G (n.378+2T>G) c.435+2T>G (n.435+2T>G) | |
| 1 | g.243637609A>G | CA345669635 | AKT3 | c.561+2T>C (n.561+2T>C) c.318+2T>C (n.318+2T>C) c.378+2T>C (n.378+2T>C) c.435+2T>C (n.435+2T>C) | |
| 1 | g.243637609A>T | CA345669636 | AKT3 | c.561+2T>A (n.561+2T>A) c.318+2T>A (n.318+2T>A) c.378+2T>A (n.378+2T>A) c.435+2T>A (n.435+2T>A) | |
| 1 | g.243637610C>A | CA345669637 | AKT3 | c.561+1G>T (n.561+1G>T) c.318+1G>T (n.318+1G>T) c.378+1G>T (n.378+1G>T) c.435+1G>T (n.435+1G>T) | |
| 1 | g.243637610C>G | CA345669638 | AKT3 | c.561+1G>C (n.561+1G>C) c.318+1G>C (n.318+1G>C) c.378+1G>C (n.378+1G>C) c.435+1G>C (n.435+1G>C) | |
| 1 | g.243637610C>T | CA345669639 | AKT3 | c.561+1G>A (n.561+1G>A) c.318+1G>A (n.318+1G>A) c.378+1G>A (n.378+1G>A) c.435+1G>A (n.435+1G>A) | dbSNP |
| 1 | g.243637611C>A | CA345669640 | AKT3 | c.561G>T (p.Lys187Asn) c.318G>T (p.Lys106Asn) c.378G>T (p.Lys126Asn) c.435G>T (p.Lys145Asn) | |
| 1 | g.243637611C>G | CA345669641 | AKT3 | c.561G>C (p.Lys187Asn) c.318G>C (p.Lys106Asn) c.378G>C (p.Lys126Asn) c.435G>C (p.Lys145Asn) | |
| 1 | g.243637611C>T | CA424353634 | AKT3 | c.561G>A (p.Lys187=) c.318G>A (p.Lys106=) c.378G>A (p.Lys126=) c.435G>A (p.Lys145=) | COSMIC COSMIC COSMIC |
| 1 | g.243637612T>A | CA345669642 | AKT3 | c.560A>T (p.Lys187Met) c.317A>T (p.Lys106Met) c.377A>T (p.Lys126Met) c.434A>T (p.Lys145Met) | |
| 1 | g.243637612T>C | CA345669643 | AKT3 | c.560A>G (p.Lys187Arg) c.317A>G (p.Lys106Arg) c.377A>G (p.Lys126Arg) c.434A>G (p.Lys145Arg) | |
| 1 | g.243637612T>G | CA345669644 | AKT3 | c.560A>C (p.Lys187Thr) c.317A>C (p.Lys106Thr) c.377A>C (p.Lys126Thr) c.434A>C (p.Lys145Thr) | |
| 1 | g.243637613T>A | CA345669646 | AKT3 | c.559A>T (p.Lys187Ter) c.316A>T (p.Lys106Ter) c.376A>T (p.Lys126Ter) c.433A>T (p.Lys145Ter) | |
| 1 | g.243637613T>C | CA345669647 | AKT3 | c.559A>G (p.Lys187Glu) c.316A>G (p.Lys106Glu) c.376A>G (p.Lys126Glu) c.433A>G (p.Lys145Glu) | |
| 1 | g.243637613T>G | CA345669645 | AKT3 | c.559A>C (p.Lys187Gln) c.316A>C (p.Lys106Gln) c.376A>C (p.Lys126Gln) c.433A>C (p.Lys145Gln) | |
| 1 | g.243637614T>A | CA424353637 | AKT3 | c.558A>T (p.Ala186=) c.315A>T (p.Ala105=) c.375A>T (p.Ala125=) c.432A>T (p.Ala144=) | |
| 1 | g.243637614T>C | CA424353636 | AKT3 | c.558A>G (p.Ala186=) c.315A>G (p.Ala105=) c.375A>G (p.Ala125=) c.432A>G (p.Ala144=) | gnomAD v4 |
| 1 | g.243637614T>G | CA424353635 | AKT3 | c.558A>C (p.Ala186=) c.315A>C (p.Ala105=) c.375A>C (p.Ala125=) c.432A>C (p.Ala144=) | |
| 1 | g.243637615G>A | CA345669650 | AKT3 | c.557C>T (p.Ala186Val) c.314C>T (p.Ala105Val) c.374C>T (p.Ala125Val) c.431C>T (p.Ala144Val) | dbSNP |
| 1 | g.243637615G>C | CA345669648 | AKT3 | c.557C>G (p.Ala186Gly) c.314C>G (p.Ala105Gly) c.374C>G (p.Ala125Gly) c.431C>G (p.Ala144Gly) | |
| 1 | g.243637615G>T | CA345669649 | AKT3 | c.557C>A (p.Ala186Glu) c.314C>A (p.Ala105Glu) c.374C>A (p.Ala125Glu) c.431C>A (p.Ala144Glu) | gnomAD v4 |
| 1 | g.243637616C>A | CA345669651 | AKT3 | c.556G>T (p.Ala186Ser) c.313G>T (p.Ala105Ser) c.373G>T (p.Ala125Ser) c.430G>T (p.Ala144Ser) | |
| 1 | g.243637616C>G | CA345669652 | AKT3 | c.556G>C (p.Ala186Pro) c.313G>C (p.Ala105Pro) c.373G>C (p.Ala125Pro) c.430G>C (p.Ala144Pro) | |
| 1 | g.243637616C>T | CA345669653 | AKT3 | c.556G>A (p.Ala186Thr) c.313G>A (p.Ala105Thr) c.373G>A (p.Ala125Thr) c.430G>A (p.Ala144Thr) | |
| 1 | g.243637617A>C | CA345669654 | AKT3 | c.555T>G (p.Ile185Met) c.312T>G (p.Ile104Met) c.372T>G (p.Ile124Met) c.429T>G (p.Ile143Met) | |
| 1 | g.243637617A>G | CA424353638 | AKT3 | c.555T>C (p.Ile185=) c.312T>C (p.Ile104=) c.372T>C (p.Ile124=) c.429T>C (p.Ile143=) | gnomAD v4 |
| 1 | g.243637617A>T | CA424353639 | AKT3 | c.555T>A (p.Ile185=) c.312T>A (p.Ile104=) c.372T>A (p.Ile124=) c.429T>A (p.Ile143=) | |
| 1 | g.243637618A>C | CA345669657 | AKT3 | c.554T>G (p.Ile185Ser) c.311T>G (p.Ile104Ser) c.371T>G (p.Ile124Ser) c.428T>G (p.Ile143Ser) | |
| 1 | g.243637618A>G | CA345669655 | AKT3 | c.554T>C (p.Ile185Thr) c.311T>C (p.Ile104Thr) c.371T>C (p.Ile124Thr) c.428T>C (p.Ile143Thr) | |
| 1 | g.243637618A>T | CA345669656 | AKT3 | c.554T>A (p.Ile185Asn) c.311T>A (p.Ile104Asn) c.371T>A (p.Ile124Asn) c.428T>A (p.Ile143Asn) | |
| 1 | g.243637619T>A | CA345669658 | AKT3 | c.553A>T (p.Ile185Phe) c.310A>T (p.Ile104Phe) c.370A>T (p.Ile124Phe) c.427A>T (p.Ile143Phe) | |
| 1 | g.243637619T>C | CA345669659 | AKT3 | c.553A>G (p.Ile185Val) c.310A>G (p.Ile104Val) c.370A>G (p.Ile124Val) c.427A>G (p.Ile143Val) | |
| 1 | g.243637619T>G | CA345669660 | AKT3 | c.553A>C (p.Ile185Leu) c.310A>C (p.Ile104Leu) c.370A>C (p.Ile124Leu) c.427A>C (p.Ile143Leu) | |
| 1 | g.243637619_243637620insGTG | CA2557292194 | AKT3 | c.552_553insCAC (p.Ile184_Ile185insHis) c.309_310insCAC (p.Ile103_Ile104insHis) c.369_370insCAC (p.Ile123_Ile124insHis) c.426_427insCAC (p.Ile142_Ile143insHis) | |
| 1 | g.243637620A= | CA1230479402 | AKT3 | c.552T= (p.Ile184=) c.309T= (p.Ile103=) c.369T= (p.Ile123=) c.426T= (p.Ile142=) | |
| 1 | g.243637620A>C | CA345669661 | AKT3 | c.552T>G (p.Ile184Met) c.309T>G (p.Ile103Met) c.369T>G (p.Ile123Met) c.426T>G (p.Ile142Met) |