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 |
|---|---|---|---|---|---|
| 7 | g.138706632_138706633delinsCG | CA1746763187 | ATP6V0A4 | c.2514_2515delinsCG (p.Ala838=) c.*79_*80delinsCG (n.*79_*80delinsCG) c.1740_1741delinsCG (p.Ala580=) c.1289_1290delinsCG (n.1289_1290delinsCG) | |
| 7 | g.138706633G>A | CA4504402 | ATP6V0A4 | c.2514C>T (p.Ala838=) c.*79C>T (n.*79C>T) c.1740C>T (p.Ala580=) c.1289C>T (n.1289C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.138706633G>C | CA457940642 | ATP6V0A4 | c.2514C>G (p.Ala838=) c.*79C>G (n.*79C>G) c.1740C>G (p.Ala580=) c.1289C>G (n.1289C>G) | gnomAD v4 |
| 7 | g.138706633G= | CA1746763190 | ATP6V0A4 | c.2514C= (p.Ala838=) c.*79C= (n.*79C=) c.1740C= (p.Ala580=) c.1289C= (n.1289C=) | |
| 7 | g.138706633G>T | CA457940643 | ATP6V0A4 | c.2514C>A (p.Ala838=) c.*79C>A (n.*79C>A) c.1740C>A (p.Ala580=) c.1289C>A (n.1289C>A) | |
| 7 | g.138706634del | CA4504401 | ATP6V0A4 | c.2514del (p.Glu839ArgfsTer24) c.*79del (n.*79del) c.1740del (p.Glu581ArgfsTer24) c.1289del (n.1289del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.138706634G>A | CA369373645 | ATP6V0A4 | c.2513C>T (p.Ala838Val) c.*78C>T (n.*78C>T) c.1739C>T (p.Ala580Val) c.1288C>T (n.1288C>T) | |
| 7 | g.138706634G>C | CA369373648 | ATP6V0A4 | c.2513C>G (p.Ala838Gly) c.*78C>G (n.*78C>G) c.1739C>G (p.Ala580Gly) c.1288C>G (n.1288C>G) | |
| 7 | g.138706634G>T | CA369373650 | ATP6V0A4 | c.2513C>A (p.Ala838Asp) c.*78C>A (n.*78C>A) c.1739C>A (p.Ala580Asp) c.1288C>A (n.1288C>A) | |
| 7 | g.138706635C>A | CA369373657 | ATP6V0A4 | c.2512G>T (p.Ala838Ser) c.*77G>T (n.*77G>T) c.1738G>T (p.Ala580Ser) c.1287G>T (n.1287G>T) | |
| 7 | g.138706635C>G | CA369373659 | ATP6V0A4 | c.2512G>C (p.Ala838Pro) c.*77G>C (n.*77G>C) c.1738G>C (p.Ala580Pro) c.1287G>C (n.1287G>C) | |
| 7 | g.138706635C>T | CA369373654 | ATP6V0A4 | c.2512G>A (p.Ala838Thr) c.*77G>A (n.*77G>A) c.1738G>A (p.Ala580Thr) c.1287G>A (n.1287G>A) | |
| 7 | g.138706636T>A | CA457940647 | ATP6V0A4 | c.2511A>T (p.Thr837=) c.*76A>T (n.*76A>T) c.1737A>T (p.Thr579=) c.1286A>T (n.1286A>T) | |
| 7 | g.138706636T>C | CA457940648 | ATP6V0A4 | c.2511A>G (p.Thr837=) c.*76A>G (n.*76A>G) c.1737A>G (p.Thr579=) c.1286A>G (n.1286A>G) | gnomAD v4 |
| 7 | g.138706636T>G | CA457940646 | ATP6V0A4 | c.2511A>C (p.Thr837=) c.*76A>C (n.*76A>C) c.1737A>C (p.Thr579=) c.1286A>C (n.1286A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.138706636T= | CA1746763191 | ATP6V0A4 | c.2511A= (p.Thr837=) c.*76A= (n.*76A=) c.1737A= (p.Thr579=) c.1286A= (n.1286A=) | |
| 7 | g.138706637G>A | CA167113303 | ATP6V0A4 | c.2510C>T (p.Thr837Ile) c.*75C>T (n.*75C>T) c.1736C>T (p.Thr579Ile) c.1285C>T (n.1285C>T) | dbSNP |
| 7 | g.138706637G>C | CA369373664 | ATP6V0A4 | c.2510C>G (p.Thr837Arg) c.*75C>G (n.*75C>G) c.1736C>G (p.Thr579Arg) c.1285C>G (n.1285C>G) | |
| 7 | g.138706637G= | CA1746763192 | ATP6V0A4 | c.2510C= (p.Thr837=) c.*75C= (n.*75C=) c.1736C= (p.Thr579=) c.1285C= (n.1285C=) | |
| 7 | g.138706637G>T | CA369373667 | ATP6V0A4 | c.2510C>A (p.Thr837Lys) c.*75C>A (n.*75C>A) c.1736C>A (p.Thr579Lys) c.1285C>A (n.1285C>A) | |
| 7 | g.138706638T>A | CA369373670 | ATP6V0A4 | c.2509A>T (p.Thr837Ser) c.*74A>T (n.*74A>T) c.1735A>T (p.Thr579Ser) c.1284A>T (n.1284A>T) | |
| 7 | g.138706638T>C | CA369373673 | ATP6V0A4 | c.2509A>G (p.Thr837Ala) c.*74A>G (n.*74A>G) c.1735A>G (p.Thr579Ala) c.1284A>G (n.1284A>G) | |
| 7 | g.138706638T>G | CA369373676 | ATP6V0A4 | c.2509A>C (p.Thr837Pro) c.*74A>C (n.*74A>C) c.1735A>C (p.Thr579Pro) c.1284A>C (n.1284A>C) | |
| 7 | g.138706639G>A | CA457940650 | ATP6V0A4 | c.2508C>T (p.Gly836=) c.*73C>T (n.*73C>T) c.1734C>T (p.Gly578=) c.1283C>T (n.1283C>T) | |
| 7 | g.138706639G>C | CA457940651 | ATP6V0A4 | c.2508C>G (p.Gly836=) c.*73C>G (n.*73C>G) c.1734C>G (p.Gly578=) c.1283C>G (n.1283C>G) | |
| 7 | g.138706639G>T | CA457940652 | ATP6V0A4 | c.2508C>A (p.Gly836=) c.*73C>A (n.*73C>A) c.1734C>A (p.Gly578=) c.1283C>A (n.1283C>A) | |
| 7 | g.138706640C>A | CA369373685 | ATP6V0A4 | c.2507G>T (p.Gly836Val) c.*72G>T (n.*72G>T) c.1733G>T (p.Gly578Val) c.1282G>T (n.1282G>T) | gnomAD v4 |
| 7 | g.138706640C= | CA1746763193 | ATP6V0A4 | c.2507G= (p.Gly836=) c.*72G= (n.*72G=) c.1733G= (p.Gly578=) c.1282G= (n.1282G=) | |
| 7 | g.138706640C>G | CA369373681 | ATP6V0A4 | c.2507G>C (p.Gly836Ala) c.*72G>C (n.*72G>C) c.1733G>C (p.Gly578Ala) c.1282G>C (n.1282G>C) | |
| 7 | g.138706640C>T | CA167113306 | ATP6V0A4 | c.2507G>A (p.Gly836Asp) c.*72G>A (n.*72G>A) c.1733G>A (p.Gly578Asp) c.1282G>A (n.1282G>A) | dbSNP |
| 7 | g.138706641C>A | CA369373687 | ATP6V0A4 | c.2506G>T (p.Gly836Cys) c.*71G>T (n.*71G>T) c.1732G>T (p.Gly578Cys) c.1281G>T (n.1281G>T) | gnomAD v4 |
| 7 | g.138706641C>G | CA369373689 | ATP6V0A4 | c.2506G>C (p.Gly836Arg) c.*71G>C (n.*71G>C) c.1732G>C (p.Gly578Arg) c.1281G>C (n.1281G>C) | |
| 7 | g.138706641C>T | CA369373691 | ATP6V0A4 | c.2506G>A (p.Gly836Ser) c.*71G>A (n.*71G>A) c.1732G>A (p.Gly578Ser) c.1281G>A (n.1281G>A) | |
| 7 | g.138706642A>C | CA369373693 | ATP6V0A4 | c.2505T>G (p.Asp835Glu) c.*70T>G (n.*70T>G) c.1731T>G (p.Asp577Glu) c.1280T>G (n.1280T>G) | |
| 7 | g.138706642A>G | CA457940655 | ATP6V0A4 | c.2505T>C (p.Asp835=) c.*70T>C (n.*70T>C) c.1731T>C (p.Asp577=) c.1280T>C (n.1280T>C) | |
| 7 | g.138706642A>T | CA369373696 | ATP6V0A4 | c.2505T>A (p.Asp835Glu) c.*70T>A (n.*70T>A) c.1731T>A (p.Asp577Glu) c.1280T>A (n.1280T>A) | |
| 7 | g.138706643T>A | CA369373698 | ATP6V0A4 | c.2504A>T (p.Asp835Val) c.*69A>T (n.*69A>T) c.1730A>T (p.Asp577Val) c.1279A>T (n.1279A>T) | gnomAD v4 |
| 7 | g.138706643T>C | CA369373704 | ATP6V0A4 | c.2504A>G (p.Asp835Gly) c.*69A>G (n.*69A>G) c.1730A>G (p.Asp577Gly) c.1279A>G (n.1279A>G) | |
| 7 | g.138706643T>G | CA369373701 | ATP6V0A4 | c.2504A>C (p.Asp835Ala) c.*69A>C (n.*69A>C) c.1730A>C (p.Asp577Ala) c.1279A>C (n.1279A>C) | |
| 7 | g.138706644C>A | CA369373707 | ATP6V0A4 | c.2503G>T (p.Asp835Tyr) c.*68G>T (n.*68G>T) c.1729G>T (p.Asp577Tyr) c.1278G>T (n.1278G>T) | dbSNP gnomAD v4 |
| 7 | g.138706644C= | CA1746763194 | ATP6V0A4 | c.2503G= (p.Asp835=) c.*68G= (n.*68G=) c.1729G= (p.Asp577=) c.1278G= (n.1278G=) | |
| 7 | g.138706644C>G | CA369373710 | ATP6V0A4 | c.2503G>C (p.Asp835His) c.*68G>C (n.*68G>C) c.1729G>C (p.Asp577His) c.1278G>C (n.1278G>C) | |
| 7 | g.138706644C>T | CA369373711 | ATP6V0A4 | c.2503G>A (p.Asp835Asn) c.*68G>A (n.*68G>A) c.1729G>A (p.Asp577Asn) c.1278G>A (n.1278G>A) | |
| 7 | g.138706645C>A | CA457940657 | ATP6V0A4 | c.2502G>T (p.Leu834=) c.*67G>T (n.*67G>T) c.1728G>T (p.Leu576=) c.1277G>T (n.1277G>T) | |
| 7 | g.138706645C= | CA1746763195 | ATP6V0A4 | c.2502G= (p.Leu834=) c.*67G= (n.*67G=) c.1728G= (p.Leu576=) c.1277G= (n.1277G=) | |
| 7 | g.138706645C>G | CA457940659 | ATP6V0A4 | c.2502G>C (p.Leu834=) c.*67G>C (n.*67G>C) c.1728G>C (p.Leu576=) c.1277G>C (n.1277G>C) | |
| 7 | g.138706645C>T | CA457940661 | ATP6V0A4 | c.2502G>A (p.Leu834=) c.*67G>A (n.*67G>A) c.1728G>A (p.Leu576=) c.1277G>A (n.1277G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.138706646A>C | CA369373715 | ATP6V0A4 | c.2501T>G (p.Leu834Arg) c.*66T>G (n.*66T>G) c.1727T>G (p.Leu576Arg) c.1276T>G (n.1276T>G) | |
| 7 | g.138706646A>G | CA369373722 | ATP6V0A4 | c.2501T>C (p.Leu834Pro) c.*66T>C (n.*66T>C) c.1727T>C (p.Leu576Pro) c.1276T>C (n.1276T>C) | |
| 7 | g.138706646A>T | CA369373723 | ATP6V0A4 | c.2501T>A (p.Leu834Gln) c.*66T>A (n.*66T>A) c.1727T>A (p.Leu576Gln) c.1276T>A (n.1276T>A) |