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 |
|---|---|---|---|---|---|
| 16 | g.30737375C>A | CA494910664 | SRCAP | c.7335C>A (p.Pro2445=) c.1593+22C>A c.6804C>A (p.Pro2268=) c.6558C>A (p.Pro2186=) | |
| 16 | g.30737375C= | CA2216733609 | SRCAP | c.7335C= (p.Pro2445=) c.1593+22C= c.6804C= (p.Pro2268=) c.6558C= (p.Pro2186=) | |
| 16 | g.30737375C>G | CA494910665 | SRCAP | c.7335C>G (p.Pro2445=) c.1593+22C>G c.6804C>G (p.Pro2268=) c.6558C>G (p.Pro2186=) | |
| 16 | g.30737375C>T | CA494910666 | SRCAP | c.7335C>T (p.Pro2445=) c.1593+22C>T c.6804C>T (p.Pro2268=) c.6558C>T (p.Pro2186=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.30737376A= | CA2216733612 | SRCAP | c.7336A= (p.Thr2446=) c.1593+23A= c.6805A= (p.Thr2269=) c.6559A= (p.Thr2187=) | |
| 16 | g.30737376A>C | CA395632590 | SRCAP | c.7336A>C (p.Thr2446Pro) c.1593+23A>C c.6805A>C (p.Thr2269Pro) c.6559A>C (p.Thr2187Pro) | |
| 16 | g.30737376A>G | CA8012464 | SRCAP | c.7336A>G (p.Thr2446Ala) c.1593+23A>G c.6805A>G (p.Thr2269Ala) c.6559A>G (p.Thr2187Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30737376A>T | CA395632591 | SRCAP | c.7336A>T (p.Thr2446Ser) c.1593+23A>T c.6805A>T (p.Thr2269Ser) c.6559A>T (p.Thr2187Ser) | |
| 16 | g.30737377C>A | CA395632592 | SRCAP | c.7337C>A (p.Thr2446Asn) c.1593+24C>A c.6806C>A (p.Thr2269Asn) c.6560C>A (p.Thr2187Asn) | |
| 16 | g.30737377C>G | CA395632593 | SRCAP | c.7337C>G (p.Thr2446Ser) c.1593+24C>G c.6806C>G (p.Thr2269Ser) c.6560C>G (p.Thr2187Ser) | |
| 16 | g.30737377C>T | CA395632594 | SRCAP | c.7337C>T (p.Thr2446Ile) c.1593+24C>T c.6806C>T (p.Thr2269Ile) c.6560C>T (p.Thr2187Ile) | |
| 16 | g.30737378T>A | CA494910671 | SRCAP | c.7338T>A (p.Thr2446=) c.1593+25T>A c.6807T>A (p.Thr2269=) c.6561T>A (p.Thr2187=) | |
| 16 | g.30737378T>C | CA494910670 | SRCAP | c.7338T>C (p.Thr2446=) c.1593+25T>C c.6807T>C (p.Thr2269=) c.6561T>C (p.Thr2187=) | |
| 16 | g.30737378T>G | CA494910669 | SRCAP | c.7338T>G (p.Thr2446=) c.1593+25T>G c.6807T>G (p.Thr2269=) c.6561T>G (p.Thr2187=) | |
| 16 | g.30737379C>A | CA395632596 | SRCAP | c.7339C>A (p.Pro2447Thr) c.1593+26C>A c.6808C>A (p.Pro2270Thr) c.6562C>A (p.Pro2188Thr) | |
| 16 | g.30737379C>G | CA395632597 | SRCAP | c.7339C>G (p.Pro2447Ala) c.1593+26C>G c.6808C>G (p.Pro2270Ala) c.6562C>G (p.Pro2188Ala) | |
| 16 | g.30737379C>T | CA395632595 | SRCAP | c.7339C>T (p.Pro2447Ser) c.1593+26C>T c.6808C>T (p.Pro2270Ser) c.6562C>T (p.Pro2188Ser) | |
| 16 | g.30737380C>A | CA395632598 | SRCAP | c.7340C>A (p.Pro2447Gln) c.1593+27C>A c.6809C>A (p.Pro2270Gln) c.6563C>A (p.Pro2188Gln) | |
| 16 | g.30737380C>G | CA395632599 | SRCAP | c.7340C>G (p.Pro2447Arg) c.1593+27C>G c.6809C>G (p.Pro2270Arg) c.6563C>G (p.Pro2188Arg) | |
| 16 | g.30737380C>T | CA395632600 | SRCAP | c.7340C>T (p.Pro2447Leu) c.1593+27C>T c.6809C>T (p.Pro2270Leu) c.6563C>T (p.Pro2188Leu) | |
| 16 | g.30737381A= | CA2216733615 | SRCAP | c.7341A= (p.Pro2447=) c.1593+28A= c.6810A= (p.Pro2270=) c.6564A= (p.Pro2188=) | |
| 16 | g.30737381A>C | CA494910675 | SRCAP | c.7341A>C (p.Pro2447=) c.1593+28A>C c.6810A>C (p.Pro2270=) c.6564A>C (p.Pro2188=) | |
| 16 | g.30737381A>G | CA494910676 | SRCAP | c.7341A>G (p.Pro2447=) c.1593+28A>G c.6810A>G (p.Pro2270=) c.6564A>G (p.Pro2188=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30737381A>T | CA494910677 | SRCAP | c.7341A>T (p.Pro2447=) c.1593+28A>T c.6810A>T (p.Pro2270=) c.6564A>T (p.Pro2188=) | |
| 16 | g.30737382G>A | CA280523803 | SRCAP | c.7342G>A (p.Ala2448Thr) c.1593+29G>A c.6811G>A (p.Ala2271Thr) c.6565G>A (p.Ala2189Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30737382G>C | CA395632601 | SRCAP | c.7342G>C (p.Ala2448Pro) c.1593+29G>C c.6811G>C (p.Ala2271Pro) c.6565G>C (p.Ala2189Pro) | gnomAD v4 |
| 16 | g.30737382G= | CA2216733621 | SRCAP | c.7342G= (p.Ala2448=) c.1593+29G= c.6811G= (p.Ala2271=) c.6565G= (p.Ala2189=) | |
| 16 | g.30737382G>T | CA395632602 | SRCAP | c.7342G>T (p.Ala2448Ser) c.1593+29G>T c.6811G>T (p.Ala2271Ser) c.6565G>T (p.Ala2189Ser) | |
| 16 | g.30737383C>A | CA395632604 | SRCAP | c.7343C>A (p.Ala2448Asp) c.1593+30C>A c.6812C>A (p.Ala2271Asp) c.6566C>A (p.Ala2189Asp) | |
| 16 | g.30737383C= | CA2216733627 | SRCAP | c.7343C= (p.Ala2448=) c.1593+30C= c.6812C= (p.Ala2271=) c.6566C= (p.Ala2189=) | |
| 16 | g.30737383C>G | CA395632603 | SRCAP | c.7343C>G (p.Ala2448Gly) c.1593+30C>G c.6812C>G (p.Ala2271Gly) c.6566C>G (p.Ala2189Gly) | |
| 16 | g.30737383C>T | CA280523806 | SRCAP | c.7343C>T (p.Ala2448Val) c.1593+30C>T c.6812C>T (p.Ala2271Val) c.6566C>T (p.Ala2189Val) | dbSNP gnomAD v4 |
| 16 | g.30737384T>A | CA494910681 | SRCAP | c.7344T>A (p.Ala2448=) c.1593+31T>A c.6813T>A (p.Ala2271=) c.6567T>A (p.Ala2189=) | |
| 16 | g.30737384T>C | CA494910682 | SRCAP | c.7344T>C (p.Ala2448=) c.1593+31T>C c.6813T>C (p.Ala2271=) c.6567T>C (p.Ala2189=) | |
| 16 | g.30737384T>G | CA494910683 | SRCAP | c.7344T>G (p.Ala2448=) c.1593+31T>G c.6813T>G (p.Ala2271=) c.6567T>G (p.Ala2189=) | |
| 16 | g.30737385T>A | CA395632605 | SRCAP | c.7345T>A (p.Ser2449Thr) c.1593+32T>A c.6814T>A (p.Ser2272Thr) c.6568T>A (p.Ser2190Thr) | |
| 16 | g.30737385T>C | CA395632606 | SRCAP | c.7345T>C (p.Ser2449Pro) c.1593+32T>C c.6814T>C (p.Ser2272Pro) c.6568T>C (p.Ser2190Pro) | |
| 16 | g.30737385T>G | CA395632607 | SRCAP | c.7345T>G (p.Ser2449Ala) c.1593+32T>G c.6814T>G (p.Ser2272Ala) c.6568T>G (p.Ser2190Ala) | gnomAD v4 |
| 16 | g.30737386C>A | CA395632608 | SRCAP | c.7346C>A (p.Ser2449Ter) c.1593+33C>A c.6815C>A (p.Ser2272Ter) c.6569C>A (p.Ser2190Ter) | |
| 16 | g.30737386C>G | CA395632609 | SRCAP | c.7346C>G (p.Ser2449Ter) c.1593+33C>G c.6815C>G (p.Ser2272Ter) c.6569C>G (p.Ser2190Ter) | |
| 16 | g.30737386C>T | CA395632610 | SRCAP | c.7346C>T (p.Ser2449Leu) c.1593+33C>T c.6815C>T (p.Ser2272Leu) c.6569C>T (p.Ser2190Leu) | gnomAD v4 |
| 16 | g.30737387A>C | CA494910684 | SRCAP | c.7347A>C (p.Ser2449=) c.1593+34A>C c.6816A>C (p.Ser2272=) c.6570A>C (p.Ser2190=) | |
| 16 | g.30737387A>G | CA494910685 | SRCAP | c.7347A>G (p.Ser2449=) c.1593+34A>G c.6816A>G (p.Ser2272=) c.6570A>G (p.Ser2190=) | |
| 16 | g.30737387A>T | CA494910687 | SRCAP | c.7347A>T (p.Ser2449=) c.1593+34A>T c.6816A>T (p.Ser2272=) c.6570A>T (p.Ser2190=) | |
| 16 | g.30737388G>A | CA395632611 | SRCAP | c.7348G>A (p.Ala2450Thr) c.1593+35G>A c.6817G>A (p.Ala2273Thr) c.6571G>A (p.Ala2191Thr) | |
| 16 | g.30737388G>C | CA395632613 | SRCAP | c.7348G>C (p.Ala2450Pro) c.1593+35G>C c.6817G>C (p.Ala2273Pro) c.6571G>C (p.Ala2191Pro) | |
| 16 | g.30737388G>T | CA395632612 | SRCAP | c.7348G>T (p.Ala2450Ser) c.1593+35G>T c.6817G>T (p.Ala2273Ser) c.6571G>T (p.Ala2191Ser) | |
| 16 | g.30737389C>A | CA395632614 | SRCAP | c.7349C>A (p.Ala2450Asp) c.1593+36C>A c.6818C>A (p.Ala2273Asp) c.6572C>A (p.Ala2191Asp) | |
| 16 | g.30737389C>G | CA395632615 | SRCAP | c.7349C>G (p.Ala2450Gly) c.1593+36C>G c.6818C>G (p.Ala2273Gly) c.6572C>G (p.Ala2191Gly) | |
| 16 | g.30737389C>T | CA395632616 | SRCAP | c.7349C>T (p.Ala2450Val) c.1593+36C>T c.6818C>T (p.Ala2273Val) c.6572C>T (p.Ala2191Val) |