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.138706696G>A | CA457940714 | ATP6V0A4 | c.2451C>T (p.Phe817=) c.*16C>T (n.*16C>T) c.1677C>T (p.Phe559=) c.1226C>T (n.1226C>T) | |
| 7 | g.138706696G>C | CA369373960 | ATP6V0A4 | c.2451C>G (p.Phe817Leu) c.*16C>G (n.*16C>G) c.1677C>G (p.Phe559Leu) c.1226C>G (n.1226C>G) | |
| 7 | g.138706696G= | CA1746763241 | ATP6V0A4 | c.2451C= (p.Phe817=) c.*16C= (n.*16C=) c.1677C= (p.Phe559=) c.1226C= (n.1226C=) | |
| 7 | g.138706696G>T | CA167113384 | ATP6V0A4 | c.2451C>A (p.Phe817Leu) c.*16C>A (n.*16C>A) c.1677C>A (p.Phe559Leu) c.1226C>A (n.1226C>A) | ClinVar dbSNP gnomAD v4 |
| 7 | g.138706697A>C | CA369373966 | ATP6V0A4 | c.2450T>G (p.Phe817Cys) c.*15T>G (n.*15T>G) c.1676T>G (p.Phe559Cys) c.1225T>G (n.1225T>G) | |
| 7 | g.138706697A>G | CA369373967 | ATP6V0A4 | c.2450T>C (p.Phe817Ser) c.*15T>C (n.*15T>C) c.1676T>C (p.Phe559Ser) c.1225T>C (n.1225T>C) | |
| 7 | g.138706697A>T | CA369373968 | ATP6V0A4 | c.2450T>A (p.Phe817Tyr) c.*15T>A (n.*15T>A) c.1676T>A (p.Phe559Tyr) c.1225T>A (n.1225T>A) | |
| 7 | g.138706698A>C | CA369373974 | ATP6V0A4 | c.2449T>G (p.Phe817Val) c.*14T>G (n.*14T>G) c.1675T>G (p.Phe559Val) c.1224T>G (n.1224T>G) | |
| 7 | g.138706698A>G | CA369373970 | ATP6V0A4 | c.2449T>C (p.Phe817Leu) c.*14T>C (n.*14T>C) c.1675T>C (p.Phe559Leu) c.1224T>C (n.1224T>C) | |
| 7 | g.138706698A>T | CA369373972 | ATP6V0A4 | c.2449T>A (p.Phe817Ile) c.*14T>A (n.*14T>A) c.1675T>A (p.Phe559Ile) c.1224T>A (n.1224T>A) | |
| 7 | g.138706699C>A | CA369373976 | ATP6V0A4 | c.2448G>T (p.Lys816Asn) c.*13G>T (n.*13G>T) c.1674G>T (p.Lys558Asn) c.1223G>T (n.1223G>T) | |
| 7 | g.138706699C>G | CA369373978 | ATP6V0A4 | c.2448G>C (p.Lys816Asn) c.*13G>C (n.*13G>C) c.1674G>C (p.Lys558Asn) c.1223G>C (n.1223G>C) | |
| 7 | g.138706699C>T | CA457940717 | ATP6V0A4 | c.2448G>A (p.Lys816=) c.*13G>A (n.*13G>A) c.1674G>A (p.Lys558=) c.1223G>A (n.1223G>A) | |
| 7 | g.138706700T>A | CA369373980 | ATP6V0A4 | c.2447A>T (p.Lys816Met) c.*12A>T (n.*12A>T) c.1673A>T (p.Lys558Met) c.1222A>T (n.1222A>T) | |
| 7 | g.138706700T>C | CA369373981 | ATP6V0A4 | c.2447A>G (p.Lys816Arg) c.*12A>G (n.*12A>G) c.1673A>G (p.Lys558Arg) c.1222A>G (n.1222A>G) | |
| 7 | g.138706700T>G | CA369373983 | ATP6V0A4 | c.2447A>C (p.Lys816Thr) c.*12A>C (n.*12A>C) c.1673A>C (p.Lys558Thr) c.1222A>C (n.1222A>C) | |
| 7 | g.138706701T>A | CA369373989 | ATP6V0A4 | c.2446A>T (p.Lys816Ter) c.*11A>T (n.*11A>T) c.1672A>T (p.Lys558Ter) c.1221A>T (n.1221A>T) | |
| 7 | g.138706701T>C | CA369373985 | ATP6V0A4 | c.2446A>G (p.Lys816Glu) c.*11A>G (n.*11A>G) c.1672A>G (p.Lys558Glu) c.1221A>G (n.1221A>G) | ClinVar dbSNP |
| 7 | g.138706701T>G | CA369373987 | ATP6V0A4 | c.2446A>C (p.Lys816Gln) c.*11A>C (n.*11A>C) c.1672A>C (p.Lys558Gln) c.1221A>C (n.1221A>C) | |
| 7 | g.138706702G>A | CA457940718 | ATP6V0A4 | c.2445C>T (p.Asn815=) c.*10C>T (n.*10C>T) c.1671C>T (p.Asn557=) c.1220C>T (n.1220C>T) | |
| 7 | g.138706702G>C | CA369373991 | ATP6V0A4 | c.2445C>G (p.Asn815Lys) c.*10C>G (n.*10C>G) c.1671C>G (p.Asn557Lys) c.1220C>G (n.1220C>G) | |
| 7 | g.138706702G>T | CA369373993 | ATP6V0A4 | c.2445C>A (p.Asn815Lys) c.*10C>A (n.*10C>A) c.1671C>A (p.Asn557Lys) c.1220C>A (n.1220C>A) | |
| 7 | g.138706703T>A | CA369373996 | ATP6V0A4 | c.2444A>T (p.Asn815Ile) c.*9A>T (n.*9A>T) c.1670A>T (p.Asn557Ile) c.1219A>T (n.1219A>T) | |
| 7 | g.138706703T>C | CA369374000 | ATP6V0A4 | c.2444A>G (p.Asn815Ser) c.*9A>G (n.*9A>G) c.1670A>G (p.Asn557Ser) c.1219A>G (n.1219A>G) | gnomAD v4 |
| 7 | g.138706703T>G | CA369373998 | ATP6V0A4 | c.2444A>C (p.Asn815Thr) c.*9A>C (n.*9A>C) c.1670A>C (p.Asn557Thr) c.1219A>C (n.1219A>C) | |
| 7 | g.138706704T>A | CA369374001 | ATP6V0A4 | c.2443A>T (p.Asn815Tyr) c.*8A>T (n.*8A>T) c.1669A>T (p.Asn557Tyr) c.1218A>T (n.1218A>T) | |
| 7 | g.138706704T>C | CA369374003 | ATP6V0A4 | c.2443A>G (p.Asn815Asp) c.*8A>G (n.*8A>G) c.1669A>G (p.Asn557Asp) c.1218A>G (n.1218A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.138706704T>G | CA369374002 | ATP6V0A4 | c.2443A>C (p.Asn815His) c.*8A>C (n.*8A>C) c.1669A>C (p.Asn557His) c.1218A>C (n.1218A>C) | |
| 7 | g.138706704T= | CA1746763245 | ATP6V0A4 | c.2443A= (p.Asn815=) c.*8A= (n.*8A=) c.1669A= (p.Asn557=) c.1218A= (n.1218A=) | |
| 7 | g.138706705C>A | CA369374004 | ATP6V0A4 | c.2442G>T (p.Gln814His) c.*7G>T (n.*7G>T) c.1668G>T (p.Gln556His) c.1217G>T (n.1217G>T) | |
| 7 | g.138706705C>G | CA369374005 | ATP6V0A4 | c.2442G>C (p.Gln814His) c.*7G>C (n.*7G>C) c.1668G>C (p.Gln556His) c.1217G>C (n.1217G>C) | |
| 7 | g.138706705C>T | CA457940722 | ATP6V0A4 | c.2442G>A (p.Gln814=) c.*7G>A (n.*7G>A) c.1668G>A (p.Gln556=) c.1217G>A (n.1217G>A) | |
| 7 | g.138706706del | CA2685126676 | ATP6V0A4 | c.2441del (p.Gln814ArgfsTer?) c.*6del (n.*6del) c.1667del (p.Gln556ArgfsTer?) c.1216del (n.1216del) | gnomAD v4 |
| 7 | g.138706706T>A | CA369374006 | ATP6V0A4 | c.2441A>T (p.Gln814Leu) c.*6A>T (n.*6A>T) c.1667A>T (p.Gln556Leu) c.1216A>T (n.1216A>T) | |
| 7 | g.138706706T>C | CA369374007 | ATP6V0A4 | c.2441A>G (p.Gln814Arg) c.*6A>G (n.*6A>G) c.1667A>G (p.Gln556Arg) c.1216A>G (n.1216A>G) | |
| 7 | g.138706706T>G | CA369374008 | ATP6V0A4 | c.2441A>C (p.Gln814Pro) c.*6A>C (n.*6A>C) c.1667A>C (p.Gln556Pro) c.1216A>C (n.1216A>C) | |
| 7 | g.138706707G>A | CA369374009 | ATP6V0A4 | c.2440C>T (p.Gln814Ter) c.*5C>T (n.*5C>T) c.1666C>T (p.Gln556Ter) c.1215C>T (n.1215C>T) | |
| 7 | g.138706707G>C | CA369374010 | ATP6V0A4 | c.2440C>G (p.Gln814Glu) c.*5C>G (n.*5C>G) c.1666C>G (p.Gln556Glu) c.1215C>G (n.1215C>G) | |
| 7 | g.138706707G>T | CA369374011 | ATP6V0A4 | c.2440C>A (p.Gln814Lys) c.*5C>A (n.*5C>A) c.1666C>A (p.Gln556Lys) c.1215C>A (n.1215C>A) | |
| 7 | g.138706708G>A | CA4504410 | ATP6V0A4 | c.2439C>T (p.Phe813=) c.*4C>T (n.*4C>T) c.1665C>T (p.Phe555=) c.1214C>T (n.1214C>T) | dbSNP ExAC |
| 7 | g.138706708G>C | CA369374012 | ATP6V0A4 | c.2439C>G (p.Phe813Leu) c.*4C>G (n.*4C>G) c.1665C>G (p.Phe555Leu) c.1214C>G (n.1214C>G) | |
| 7 | g.138706708G= | CA1746763249 | ATP6V0A4 | c.2439C= (p.Phe813=) c.*4C= (n.*4C=) c.1665C= (p.Phe555=) c.1214C= (n.1214C=) | |
| 7 | g.138706708G>T | CA369374013 | ATP6V0A4 | c.2439C>A (p.Phe813Leu) c.*4C>A (n.*4C>A) c.1665C>A (p.Phe555Leu) c.1214C>A (n.1214C>A) | |
| 7 | g.138706709A>C | CA369374017 | ATP6V0A4 | c.2438T>G (p.Phe813Cys) c.*3T>G (n.*3T>G) c.1664T>G (p.Phe555Cys) c.1213T>G (n.1213T>G) | |
| 7 | g.138706709A>G | CA369374016 | ATP6V0A4 | c.2438T>C (p.Phe813Ser) c.*3T>C (n.*3T>C) c.1664T>C (p.Phe555Ser) c.1213T>C (n.1213T>C) | |
| 7 | g.138706709A>T | CA369374015 | ATP6V0A4 | c.2438T>A (p.Phe813Tyr) c.*3T>A (n.*3T>A) c.1664T>A (p.Phe555Tyr) c.1213T>A (n.1213T>A) | |
| 7 | g.138706710A>C | CA369374018 | ATP6V0A4 | c.2437T>G (p.Phe813Val) c.*2T>G (n.*2T>G) c.1663T>G (p.Phe555Val) c.1212T>G (n.1212T>G) | |
| 7 | g.138706710A>G | CA369374019 | ATP6V0A4 | c.2437T>C (p.Phe813Leu) c.*2T>C (n.*2T>C) c.1663T>C (p.Phe555Leu) c.1212T>C (n.1212T>C) | |
| 7 | g.138706710A>T | CA369374020 | ATP6V0A4 | c.2437T>A (p.Phe813Ile) c.*2T>A (n.*2T>A) c.1663T>A (p.Phe555Ile) c.1212T>A (n.1212T>A) | |
| 7 | g.138706711C>A | CA369374022 | ATP6V0A4 | c.2436G>T (p.Glu812Asp) c.*1G>T (n.*1G>T) c.1662G>T (p.Glu554Asp) c.1211G>T (n.1211G>T) |