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 |
|---|---|---|---|---|---|
| 11 | g.22259639C>A | CA379922230 | ANO5 | c.1078C>A (p.Pro360Thr) c.1486C>A (p.Pro496Thr) n.2522C>A c.1483C>A (p.Pro495Thr) c.1528C>A (p.Pro510Thr) n.1863C>A c.1525C>A (p.Pro509Thr) c.1450C>A (p.Pro484Thr) c.1447C>A (p.Pro483Thr) c.1435C>A (p.Pro479Thr) | |
| 11 | g.22259639C>G | CA379922228 | ANO5 | c.1078C>G (p.Pro360Ala) c.1486C>G (p.Pro496Ala) n.2522C>G c.1483C>G (p.Pro495Ala) c.1528C>G (p.Pro510Ala) n.1863C>G c.1525C>G (p.Pro509Ala) c.1450C>G (p.Pro484Ala) c.1447C>G (p.Pro483Ala) c.1435C>G (p.Pro479Ala) | ClinVar gnomAD v4 |
| 11 | g.22259639C>T | CA379922229 | ANO5 | c.1078C>T (p.Pro360Ser) c.1486C>T (p.Pro496Ser) n.2522C>T c.1483C>T (p.Pro495Ser) c.1528C>T (p.Pro510Ser) n.1863C>T c.1525C>T (p.Pro509Ser) c.1450C>T (p.Pro484Ser) c.1447C>T (p.Pro483Ser) c.1435C>T (p.Pro479Ser) | |
| 11 | g.22259640C>A | CA379922231 | ANO5 | c.1079C>A (p.Pro360His) c.1487C>A (p.Pro496His) n.2523C>A c.1484C>A (p.Pro495His) c.1529C>A (p.Pro510His) n.1864C>A c.1526C>A (p.Pro509His) c.1451C>A (p.Pro484His) c.1448C>A (p.Pro483His) c.1436C>A (p.Pro479His) | |
| 11 | g.22259640C>G | CA379922232 | ANO5 | c.1079C>G (p.Pro360Arg) c.1487C>G (p.Pro496Arg) n.2523C>G c.1484C>G (p.Pro495Arg) c.1529C>G (p.Pro510Arg) n.1864C>G c.1526C>G (p.Pro509Arg) c.1451C>G (p.Pro484Arg) c.1448C>G (p.Pro483Arg) c.1436C>G (p.Pro479Arg) | |
| 11 | g.22259640C>T | CA379922233 | ANO5 | c.1079C>T (p.Pro360Leu) c.1487C>T (p.Pro496Leu) n.2523C>T c.1484C>T (p.Pro495Leu) c.1529C>T (p.Pro510Leu) n.1864C>T c.1526C>T (p.Pro509Leu) c.1451C>T (p.Pro484Leu) c.1448C>T (p.Pro483Leu) c.1436C>T (p.Pro479Leu) | |
| 11 | g.22259641T>A | CA473405078 | ANO5 | c.1080T>A (p.Pro360=) c.1488T>A (p.Pro496=) n.2524T>A c.1485T>A (p.Pro495=) c.1530T>A (p.Pro510=) n.1865T>A c.1527T>A (p.Pro509=) c.1452T>A (p.Pro484=) c.1449T>A (p.Pro483=) c.1437T>A (p.Pro479=) | |
| 11 | g.22259641T>C | CA473405077 | ANO5 | c.1080T>C (p.Pro360=) c.1488T>C (p.Pro496=) n.2524T>C c.1485T>C (p.Pro495=) c.1530T>C (p.Pro510=) n.1865T>C c.1527T>C (p.Pro509=) c.1452T>C (p.Pro484=) c.1449T>C (p.Pro483=) c.1437T>C (p.Pro479=) | |
| 11 | g.22259641T>G | CA473405076 | ANO5 | c.1080T>G (p.Pro360=) c.1488T>G (p.Pro496=) n.2524T>G c.1485T>G (p.Pro495=) c.1530T>G (p.Pro510=) n.1865T>G c.1527T>G (p.Pro509=) c.1452T>G (p.Pro484=) c.1449T>G (p.Pro483=) c.1437T>G (p.Pro479=) | |
| 11 | g.22259642C>A | CA379922234 | ANO5 | c.1081C>A (p.Gln361Lys) c.1489C>A (p.Gln497Lys) n.2525C>A c.1486C>A (p.Gln496Lys) c.1531C>A (p.Gln511Lys) n.1866C>A c.1528C>A (p.Gln510Lys) c.1453C>A (p.Gln485Lys) c.1450C>A (p.Gln484Lys) c.1438C>A (p.Gln480Lys) | |
| 11 | g.22259642C= | CA1957418755 | ANO5 | c.1081C= (p.Gln361=) c.1489C= (p.Gln497=) n.2525C= c.1486C= (p.Gln496=) c.1531C= (p.Gln511=) n.1866C= c.1528C= (p.Gln510=) c.1453C= (p.Gln485=) c.1450C= (p.Gln484=) c.1438C= (p.Gln480=) | |
| 11 | g.22259642C>G | CA379922235 | ANO5 | c.1081C>G (p.Gln361Glu) c.1489C>G (p.Gln497Glu) n.2525C>G c.1486C>G (p.Gln496Glu) c.1531C>G (p.Gln511Glu) n.1866C>G c.1528C>G (p.Gln510Glu) c.1453C>G (p.Gln485Glu) c.1450C>G (p.Gln484Glu) c.1438C>G (p.Gln480Glu) | |
| 11 | g.22259642C>T | CA379922236 | ANO5 | c.1081C>T (p.Gln361Ter) c.1489C>T (p.Gln497Ter) n.2525C>T c.1486C>T (p.Gln496Ter) c.1531C>T (p.Gln511Ter) n.1866C>T c.1528C>T (p.Gln510Ter) c.1453C>T (p.Gln485Ter) c.1450C>T (p.Gln484Ter) c.1438C>T (p.Gln480Ter) | ClinVar dbSNP |
| 11 | g.22259643A>C | CA379922237 | ANO5 | c.1082A>C (p.Gln361Pro) c.1490A>C (p.Gln497Pro) n.2526A>C c.1487A>C (p.Gln496Pro) c.1532A>C (p.Gln511Pro) n.1867A>C c.1529A>C (p.Gln510Pro) c.1454A>C (p.Gln485Pro) c.1451A>C (p.Gln484Pro) c.1439A>C (p.Gln480Pro) | |
| 11 | g.22259643A>G | CA379922238 | ANO5 | c.1082A>G (p.Gln361Arg) c.1490A>G (p.Gln497Arg) n.2526A>G c.1487A>G (p.Gln496Arg) c.1532A>G (p.Gln511Arg) n.1867A>G c.1529A>G (p.Gln510Arg) c.1454A>G (p.Gln485Arg) c.1451A>G (p.Gln484Arg) c.1439A>G (p.Gln480Arg) | |
| 11 | g.22259643A>T | CA379922239 | ANO5 | c.1082A>T (p.Gln361Leu) c.1490A>T (p.Gln497Leu) n.2526A>T c.1487A>T (p.Gln496Leu) c.1532A>T (p.Gln511Leu) n.1867A>T c.1529A>T (p.Gln510Leu) c.1454A>T (p.Gln485Leu) c.1451A>T (p.Gln484Leu) c.1439A>T (p.Gln480Leu) | |
| 11 | g.22259644G>A | CA473405079 | ANO5 | c.1083G>A (p.Gln361=) c.1491G>A (p.Gln497=) n.2527G>A c.1488G>A (p.Gln496=) c.1533G>A (p.Gln511=) n.1868G>A c.1530G>A (p.Gln510=) c.1455G>A (p.Gln485=) c.1452G>A (p.Gln484=) c.1440G>A (p.Gln480=) | COSMIC |
| 11 | g.22259644G>C | CA379922240 | ANO5 | c.1083G>C (p.Gln361His) c.1491G>C (p.Gln497His) n.2527G>C c.1488G>C (p.Gln496His) c.1533G>C (p.Gln511His) n.1868G>C c.1530G>C (p.Gln510His) c.1455G>C (p.Gln485His) c.1452G>C (p.Gln484His) c.1440G>C (p.Gln480His) | |
| 11 | g.22259644G>T | CA379922241 | ANO5 | c.1083G>T (p.Gln361His) c.1491G>T (p.Gln497His) n.2527G>T c.1488G>T (p.Gln496His) c.1533G>T (p.Gln511His) n.1868G>T c.1530G>T (p.Gln510His) c.1455G>T (p.Gln485His) c.1452G>T (p.Gln484His) c.1440G>T (p.Gln480His) | |
| 11 | g.22259645A= | CA1957418756 | ANO5 | c.1084A= (p.Ile362=) c.1492A= (p.Ile498=) n.2528A= c.1489A= (p.Ile497=) c.1534A= (p.Ile512=) n.1869A= c.1531A= (p.Ile511=) c.1456A= (p.Ile486=) c.1453A= (p.Ile485=) c.1441A= (p.Ile481=) | |
| 11 | g.22259645A>C | CA379922244 | ANO5 | c.1084A>C (p.Ile362Leu) c.1492A>C (p.Ile498Leu) n.2528A>C c.1489A>C (p.Ile497Leu) c.1534A>C (p.Ile512Leu) n.1869A>C c.1531A>C (p.Ile511Leu) c.1456A>C (p.Ile486Leu) c.1453A>C (p.Ile485Leu) c.1441A>C (p.Ile481Leu) | |
| 11 | g.22259645A>G | CA379922243 | ANO5 | c.1084A>G (p.Ile362Val) c.1492A>G (p.Ile498Val) n.2528A>G c.1489A>G (p.Ile497Val) c.1534A>G (p.Ile512Val) n.1869A>G c.1531A>G (p.Ile511Val) c.1456A>G (p.Ile486Val) c.1453A>G (p.Ile485Val) c.1441A>G (p.Ile481Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.22259645A>T | CA379922242 | ANO5 | c.1084A>T (p.Ile362Leu) c.1492A>T (p.Ile498Leu) n.2528A>T c.1489A>T (p.Ile497Leu) c.1534A>T (p.Ile512Leu) n.1869A>T c.1531A>T (p.Ile511Leu) c.1456A>T (p.Ile486Leu) c.1453A>T (p.Ile485Leu) c.1441A>T (p.Ile481Leu) | |
| 11 | g.22259646T>A | CA379922245 | ANO5 | c.1085T>A (p.Ile362Lys) c.1493T>A (p.Ile498Lys) n.2529T>A c.1490T>A (p.Ile497Lys) c.1535T>A (p.Ile512Lys) n.1870T>A c.1532T>A (p.Ile511Lys) c.1457T>A (p.Ile486Lys) c.1454T>A (p.Ile485Lys) c.1442T>A (p.Ile481Lys) | |
| 11 | g.22259646T>C | CA379922246 | ANO5 | c.1085T>C (p.Ile362Thr) c.1493T>C (p.Ile498Thr) n.2529T>C c.1490T>C (p.Ile497Thr) c.1535T>C (p.Ile512Thr) n.1870T>C c.1532T>C (p.Ile511Thr) c.1457T>C (p.Ile486Thr) c.1454T>C (p.Ile485Thr) c.1442T>C (p.Ile481Thr) | gnomAD v4 |
| 11 | g.22259646T>G | CA379922247 | ANO5 | c.1085T>G (p.Ile362Arg) c.1493T>G (p.Ile498Arg) n.2529T>G c.1490T>G (p.Ile497Arg) c.1535T>G (p.Ile512Arg) n.1870T>G c.1532T>G (p.Ile511Arg) c.1457T>G (p.Ile486Arg) c.1454T>G (p.Ile485Arg) c.1442T>G (p.Ile481Arg) | |
| 11 | g.22259647A= | CA1957418757 | ANO5 | c.1086A= (p.Ile362=) c.1494A= (p.Ile498=) n.2530A= c.1491A= (p.Ile497=) c.1536A= (p.Ile512=) n.1871A= c.1533A= (p.Ile511=) c.1458A= (p.Ile486=) c.1455A= (p.Ile485=) c.1443A= (p.Ile481=) | |
| 11 | g.22259647A>C | CA473405080 | ANO5 | c.1086A>C (p.Ile362=) c.1494A>C (p.Ile498=) n.2530A>C c.1491A>C (p.Ile497=) c.1536A>C (p.Ile512=) n.1871A>C c.1533A>C (p.Ile511=) c.1458A>C (p.Ile486=) c.1455A>C (p.Ile485=) c.1443A>C (p.Ile481=) | |
| 11 | g.22259647A>G | CA379922248 | ANO5 | c.1086A>G (p.Ile362Met) c.1494A>G (p.Ile498Met) n.2530A>G c.1491A>G (p.Ile497Met) c.1536A>G (p.Ile512Met) n.1871A>G c.1533A>G (p.Ile511Met) c.1458A>G (p.Ile486Met) c.1455A>G (p.Ile485Met) c.1443A>G (p.Ile481Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22259647A>T | CA473405081 | ANO5 | c.1086A>T (p.Ile362=) c.1494A>T (p.Ile498=) n.2530A>T c.1491A>T (p.Ile497=) c.1536A>T (p.Ile512=) n.1871A>T c.1533A>T (p.Ile511=) c.1458A>T (p.Ile486=) c.1455A>T (p.Ile485=) c.1443A>T (p.Ile481=) | |
| 11 | g.22259648A>C | CA379922249 | ANO5 | c.1087A>C (p.Thr363Pro) c.1495A>C (p.Thr499Pro) n.2531A>C c.1492A>C (p.Thr498Pro) c.1537A>C (p.Thr513Pro) n.1872A>C c.1534A>C (p.Thr512Pro) c.1459A>C (p.Thr487Pro) c.1456A>C (p.Thr486Pro) c.1444A>C (p.Thr482Pro) | |
| 11 | g.22259648A>G | CA379922250 | ANO5 | c.1087A>G (p.Thr363Ala) c.1495A>G (p.Thr499Ala) n.2531A>G c.1492A>G (p.Thr498Ala) c.1537A>G (p.Thr513Ala) n.1872A>G c.1534A>G (p.Thr512Ala) c.1459A>G (p.Thr487Ala) c.1456A>G (p.Thr486Ala) c.1444A>G (p.Thr482Ala) | |
| 11 | g.22259648A>T | CA379922251 | ANO5 | c.1087A>T (p.Thr363Ser) c.1495A>T (p.Thr499Ser) n.2531A>T c.1492A>T (p.Thr498Ser) c.1537A>T (p.Thr513Ser) n.1872A>T c.1534A>T (p.Thr512Ser) c.1459A>T (p.Thr487Ser) c.1456A>T (p.Thr486Ser) c.1444A>T (p.Thr482Ser) | |
| 11 | g.22259649C>A | CA379922252 | ANO5 | c.1088C>A (p.Thr363Asn) c.1496C>A (p.Thr499Asn) n.2532C>A c.1493C>A (p.Thr498Asn) c.1538C>A (p.Thr513Asn) n.1873C>A c.1535C>A (p.Thr512Asn) c.1460C>A (p.Thr487Asn) c.1457C>A (p.Thr486Asn) c.1445C>A (p.Thr482Asn) | |
| 11 | g.22259649C= | CA1957418758 | ANO5 | c.1088C= (p.Thr363=) c.1496C= (p.Thr499=) n.2532C= c.1493C= (p.Thr498=) c.1538C= (p.Thr513=) n.1873C= c.1535C= (p.Thr512=) c.1460C= (p.Thr487=) c.1457C= (p.Thr486=) c.1445C= (p.Thr482=) | |
| 11 | g.22259649C>G | CA379922253 | ANO5 | c.1088C>G (p.Thr363Ser) c.1496C>G (p.Thr499Ser) n.2532C>G c.1493C>G (p.Thr498Ser) c.1538C>G (p.Thr513Ser) n.1873C>G c.1535C>G (p.Thr512Ser) c.1460C>G (p.Thr487Ser) c.1457C>G (p.Thr486Ser) c.1445C>G (p.Thr482Ser) | |
| 11 | g.22259649C>T | CA10606250 | ANO5 | c.1088C>T (p.Thr363Ile) c.1496C>T (p.Thr499Ile) n.2532C>T c.1493C>T (p.Thr498Ile) c.1538C>T (p.Thr513Ile) n.1873C>T c.1535C>T (p.Thr512Ile) c.1460C>T (p.Thr487Ile) c.1457C>T (p.Thr486Ile) c.1445C>T (p.Thr482Ile) | ClinVar dbSNP |
| 11 | g.22259650C>A | CA473405082 | ANO5 | c.1089C>A (p.Thr363=) c.1497C>A (p.Thr499=) n.2533C>A c.1494C>A (p.Thr498=) c.1539C>A (p.Thr513=) n.1874C>A c.1536C>A (p.Thr512=) c.1461C>A (p.Thr487=) c.1458C>A (p.Thr486=) c.1446C>A (p.Thr482=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.22259650C= | CA1957418759 | ANO5 | c.1089C= (p.Thr363=) c.1497C= (p.Thr499=) n.2533C= c.1494C= (p.Thr498=) c.1539C= (p.Thr513=) n.1874C= c.1536C= (p.Thr512=) c.1461C= (p.Thr487=) c.1458C= (p.Thr486=) c.1446C= (p.Thr482=) | |
| 11 | g.22259650C>G | CA473405083 | ANO5 | c.1089C>G (p.Thr363=) c.1497C>G (p.Thr499=) n.2533C>G c.1494C>G (p.Thr498=) c.1539C>G (p.Thr513=) n.1874C>G c.1536C>G (p.Thr512=) c.1461C>G (p.Thr487=) c.1458C>G (p.Thr486=) c.1446C>G (p.Thr482=) | gnomAD v4 |
| 11 | g.22259650C>T | CA473405084 | ANO5 | c.1089C>T (p.Thr363=) c.1497C>T (p.Thr499=) n.2533C>T c.1494C>T (p.Thr498=) c.1539C>T (p.Thr513=) n.1874C>T c.1536C>T (p.Thr512=) c.1461C>T (p.Thr487=) c.1458C>T (p.Thr486=) c.1446C>T (p.Thr482=) | |
| 11 | g.22259651A>C | CA379922254 | ANO5 | c.1090A>C (p.Thr364Pro) c.1498A>C (p.Thr500Pro) n.2534A>C c.1495A>C (p.Thr499Pro) c.1540A>C (p.Thr514Pro) n.1875A>C c.1537A>C (p.Thr513Pro) c.1462A>C (p.Thr488Pro) c.1459A>C (p.Thr487Pro) c.1447A>C (p.Thr483Pro) | |
| 11 | g.22259651A>G | CA379922255 | ANO5 | c.1090A>G (p.Thr364Ala) c.1498A>G (p.Thr500Ala) n.2534A>G c.1495A>G (p.Thr499Ala) c.1540A>G (p.Thr514Ala) n.1875A>G c.1537A>G (p.Thr513Ala) c.1462A>G (p.Thr488Ala) c.1459A>G (p.Thr487Ala) c.1447A>G (p.Thr483Ala) | |
| 11 | g.22259651A>T | CA379922256 | ANO5 | c.1090A>T (p.Thr364Ser) c.1498A>T (p.Thr500Ser) n.2534A>T c.1495A>T (p.Thr499Ser) c.1540A>T (p.Thr514Ser) n.1875A>T c.1537A>T (p.Thr513Ser) c.1462A>T (p.Thr488Ser) c.1459A>T (p.Thr487Ser) c.1447A>T (p.Thr483Ser) | |
| 11 | g.22259652C>A | CA379922258 | ANO5 | c.1091C>A (p.Thr364Lys) c.1499C>A (p.Thr500Lys) n.2535C>A c.1496C>A (p.Thr499Lys) c.1541C>A (p.Thr514Lys) n.1876C>A c.1538C>A (p.Thr513Lys) c.1463C>A (p.Thr488Lys) c.1460C>A (p.Thr487Lys) c.1448C>A (p.Thr483Lys) | |
| 11 | g.22259652C= | CA1957418760 | ANO5 | c.1091C= (p.Thr364=) c.1499C= (p.Thr500=) n.2535C= c.1496C= (p.Thr499=) c.1541C= (p.Thr514=) n.1876C= c.1538C= (p.Thr513=) c.1463C= (p.Thr488=) c.1460C= (p.Thr487=) c.1448C= (p.Thr483=) | |
| 11 | g.22259652C>G | CA379922257 | ANO5 | c.1091C>G (p.Thr364Arg) c.1499C>G (p.Thr500Arg) n.2535C>G c.1496C>G (p.Thr499Arg) c.1541C>G (p.Thr514Arg) n.1876C>G c.1538C>G (p.Thr513Arg) c.1463C>G (p.Thr488Arg) c.1460C>G (p.Thr487Arg) c.1448C>G (p.Thr483Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.22259652C>T | CA144627 | ANO5 | c.1091C>T (p.Thr364Ile) c.1499C>T (p.Thr500Ile) n.2535C>T c.1496C>T (p.Thr499Ile) c.1541C>T (p.Thr514Ile) n.1876C>T c.1538C>T (p.Thr513Ile) c.1463C>T (p.Thr488Ile) c.1460C>T (p.Thr487Ile) c.1448C>T (p.Thr483Ile) | ClinVar dbSNP |
| 11 | g.22259653A>C | CA473405085 | ANO5 | c.1092A>C (p.Thr364=) c.1500A>C (p.Thr500=) n.2536A>C c.1497A>C (p.Thr499=) c.1542A>C (p.Thr514=) n.1877A>C c.1539A>C (p.Thr513=) c.1464A>C (p.Thr488=) c.1461A>C (p.Thr487=) c.1449A>C (p.Thr483=) | |
| 11 | g.22259653A>G | CA473405086 | ANO5 | c.1092A>G (p.Thr364=) c.1500A>G (p.Thr500=) n.2536A>G c.1497A>G (p.Thr499=) c.1542A>G (p.Thr514=) n.1877A>G c.1539A>G (p.Thr513=) c.1464A>G (p.Thr488=) c.1461A>G (p.Thr487=) c.1449A>G (p.Thr483=) | COSMIC |