UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.22259563C>A | CA473405003 | ANO5 | c.1002C>A (p.Arg334=) c.1410C>A (p.Arg470=) n.2446C>A c.1407C>A (p.Arg469=) c.1452C>A (p.Arg484=) n.1787C>A c.1449C>A (p.Arg483=) c.1374C>A (p.Arg458=) c.1371C>A (p.Arg457=) c.1359C>A (p.Arg453=) | gnomAD v4 |
| 11 | g.22259563C= | CA1957418728 | ANO5 | c.1002C= (p.Arg334=) c.1410C= (p.Arg470=) n.2446C= c.1407C= (p.Arg469=) c.1452C= (p.Arg484=) n.1787C= c.1449C= (p.Arg483=) c.1374C= (p.Arg458=) c.1371C= (p.Arg457=) c.1359C= (p.Arg453=) | |
| 11 | g.22259563C>G | CA473405004 | ANO5 | c.1002C>G (p.Arg334=) c.1410C>G (p.Arg470=) n.2446C>G c.1407C>G (p.Arg469=) c.1452C>G (p.Arg484=) n.1787C>G c.1449C>G (p.Arg483=) c.1374C>G (p.Arg458=) c.1371C>G (p.Arg457=) c.1359C>G (p.Arg453=) | ClinVar dbSNP |
| 11 | g.22259563C>T | CA473405006 | ANO5 | c.1002C>T (p.Arg334=) c.1410C>T (p.Arg470=) n.2446C>T c.1407C>T (p.Arg469=) c.1452C>T (p.Arg484=) n.1787C>T c.1449C>T (p.Arg483=) c.1374C>T (p.Arg458=) c.1371C>T (p.Arg457=) c.1359C>T (p.Arg453=) | |
| 11 | g.22259564C>A | CA379922060 | ANO5 | c.1003C>A (p.Leu335Met) c.1411C>A (p.Leu471Met) n.2447C>A c.1408C>A (p.Leu470Met) c.1453C>A (p.Leu485Met) n.1788C>A c.1450C>A (p.Leu484Met) c.1375C>A (p.Leu459Met) c.1372C>A (p.Leu458Met) c.1360C>A (p.Leu454Met) | |
| 11 | g.22259564C= | CA1957418729 | ANO5 | c.1003C= (p.Leu335=) c.1411C= (p.Leu471=) n.2447C= c.1408C= (p.Leu470=) c.1453C= (p.Leu485=) n.1788C= c.1450C= (p.Leu484=) c.1375C= (p.Leu459=) c.1372C= (p.Leu458=) c.1360C= (p.Leu454=) | |
| 11 | g.22259564C>G | CA379922061 | ANO5 | c.1003C>G (p.Leu335Val) c.1411C>G (p.Leu471Val) n.2447C>G c.1408C>G (p.Leu470Val) c.1453C>G (p.Leu485Val) n.1788C>G c.1450C>G (p.Leu484Val) c.1375C>G (p.Leu459Val) c.1372C>G (p.Leu458Val) c.1360C>G (p.Leu454Val) | |
| 11 | g.22259564C>T | CA5923265 | ANO5 | c.1003C>T (p.Leu335=) c.1411C>T (p.Leu471=) n.2447C>T c.1408C>T (p.Leu470=) c.1453C>T (p.Leu485=) n.1788C>T c.1450C>T (p.Leu484=) c.1375C>T (p.Leu459=) c.1372C>T (p.Leu458=) c.1360C>T (p.Leu454=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.22259565T>A | CA379922062 | ANO5 | c.1004T>A (p.Leu335Gln) c.1412T>A (p.Leu471Gln) n.2448T>A c.1409T>A (p.Leu470Gln) c.1454T>A (p.Leu485Gln) n.1789T>A c.1451T>A (p.Leu484Gln) c.1376T>A (p.Leu459Gln) c.1373T>A (p.Leu458Gln) c.1361T>A (p.Leu454Gln) | |
| 11 | g.22259565T>C | CA379922063 | ANO5 | c.1004T>C (p.Leu335Pro) c.1412T>C (p.Leu471Pro) n.2448T>C c.1409T>C (p.Leu470Pro) c.1454T>C (p.Leu485Pro) n.1789T>C c.1451T>C (p.Leu484Pro) c.1376T>C (p.Leu459Pro) c.1373T>C (p.Leu458Pro) c.1361T>C (p.Leu454Pro) | gnomAD v4 |
| 11 | g.22259565T>G | CA379922064 | ANO5 | c.1004T>G (p.Leu335Arg) c.1412T>G (p.Leu471Arg) n.2448T>G c.1409T>G (p.Leu470Arg) c.1454T>G (p.Leu485Arg) n.1789T>G c.1451T>G (p.Leu484Arg) c.1376T>G (p.Leu459Arg) c.1373T>G (p.Leu458Arg) c.1361T>G (p.Leu454Arg) | |
| 11 | g.22259566G>A | CA473405007 | ANO5 | c.1005G>A (p.Leu335=) c.1413G>A (p.Leu471=) n.2449G>A c.1410G>A (p.Leu470=) c.1455G>A (p.Leu485=) n.1790G>A c.1452G>A (p.Leu484=) c.1377G>A (p.Leu459=) c.1374G>A (p.Leu458=) c.1362G>A (p.Leu454=) | |
| 11 | g.22259566G>C | CA473405008 | ANO5 | c.1005G>C (p.Leu335=) c.1413G>C (p.Leu471=) n.2449G>C c.1410G>C (p.Leu470=) c.1455G>C (p.Leu485=) n.1790G>C c.1452G>C (p.Leu484=) c.1377G>C (p.Leu459=) c.1374G>C (p.Leu458=) c.1362G>C (p.Leu454=) | |
| 11 | g.22259566G>T | CA473405009 | ANO5 | c.1005G>T (p.Leu335=) c.1413G>T (p.Leu471=) n.2449G>T c.1410G>T (p.Leu470=) c.1455G>T (p.Leu485=) n.1790G>T c.1452G>T (p.Leu484=) c.1377G>T (p.Leu459=) c.1374G>T (p.Leu458=) c.1362G>T (p.Leu454=) | |
| 11 | g.22259567T>A | CA379922065 | ANO5 | c.1006T>A (p.Ser336Thr) c.1414T>A (p.Ser472Thr) n.2450T>A c.1411T>A (p.Ser471Thr) c.1456T>A (p.Ser486Thr) n.1791T>A c.1453T>A (p.Ser485Thr) c.1378T>A (p.Ser460Thr) c.1375T>A (p.Ser459Thr) c.1363T>A (p.Ser455Thr) | |
| 11 | g.22259567T>C | CA379922066 | ANO5 | c.1006T>C (p.Ser336Pro) c.1414T>C (p.Ser472Pro) n.2450T>C c.1411T>C (p.Ser471Pro) c.1456T>C (p.Ser486Pro) n.1791T>C c.1453T>C (p.Ser485Pro) c.1378T>C (p.Ser460Pro) c.1375T>C (p.Ser459Pro) c.1363T>C (p.Ser455Pro) | |
| 11 | g.22259567T>G | CA379922067 | ANO5 | c.1006T>G (p.Ser336Ala) c.1414T>G (p.Ser472Ala) n.2450T>G c.1411T>G (p.Ser471Ala) c.1456T>G (p.Ser486Ala) n.1791T>G c.1453T>G (p.Ser485Ala) c.1378T>G (p.Ser460Ala) c.1375T>G (p.Ser459Ala) c.1363T>G (p.Ser455Ala) | |
| 11 | g.22259568C>A | CA379922070 | ANO5 | c.1007C>A (p.Ser336Ter) c.1415C>A (p.Ser472Ter) n.2451C>A c.1412C>A (p.Ser471Ter) c.1457C>A (p.Ser486Ter) n.1792C>A c.1454C>A (p.Ser485Ter) c.1379C>A (p.Ser460Ter) c.1376C>A (p.Ser459Ter) c.1364C>A (p.Ser455Ter) | gnomAD v4 |
| 11 | g.22259568C>G | CA379922069 | ANO5 | c.1007C>G (p.Ser336Ter) c.1415C>G (p.Ser472Ter) n.2451C>G c.1412C>G (p.Ser471Ter) c.1457C>G (p.Ser486Ter) n.1792C>G c.1454C>G (p.Ser485Ter) c.1379C>G (p.Ser460Ter) c.1376C>G (p.Ser459Ter) c.1364C>G (p.Ser455Ter) | |
| 11 | g.22259568C>T | CA379922068 | ANO5 | c.1007C>T (p.Ser336Leu) c.1415C>T (p.Ser472Leu) n.2451C>T c.1412C>T (p.Ser471Leu) c.1457C>T (p.Ser486Leu) n.1792C>T c.1454C>T (p.Ser485Leu) c.1379C>T (p.Ser460Leu) c.1376C>T (p.Ser459Leu) c.1364C>T (p.Ser455Leu) | |
| 11 | g.22259569A>C | CA473405014 | ANO5 | c.1008A>C (p.Ser336=) c.1416A>C (p.Ser472=) n.2452A>C c.1413A>C (p.Ser471=) c.1458A>C (p.Ser486=) n.1793A>C c.1455A>C (p.Ser485=) c.1380A>C (p.Ser460=) c.1377A>C (p.Ser459=) c.1365A>C (p.Ser455=) | |
| 11 | g.22259569A>G | CA473405015 | ANO5 | c.1008A>G (p.Ser336=) c.1416A>G (p.Ser472=) n.2452A>G c.1413A>G (p.Ser471=) c.1458A>G (p.Ser486=) n.1793A>G c.1455A>G (p.Ser485=) c.1380A>G (p.Ser460=) c.1377A>G (p.Ser459=) c.1365A>G (p.Ser455=) | |
| 11 | g.22259569A>T | CA473405016 | ANO5 | c.1008A>T (p.Ser336=) c.1416A>T (p.Ser472=) n.2452A>T c.1413A>T (p.Ser471=) c.1458A>T (p.Ser486=) n.1793A>T c.1455A>T (p.Ser485=) c.1380A>T (p.Ser460=) c.1377A>T (p.Ser459=) c.1365A>T (p.Ser455=) | |
| 11 | g.22259570G>A | CA379922073 | ANO5 | c.1009G>A (p.Val337Ile) c.1417G>A (p.Val473Ile) n.2453G>A c.1414G>A (p.Val472Ile) c.1459G>A (p.Val487Ile) n.1794G>A c.1456G>A (p.Val486Ile) c.1381G>A (p.Val461Ile) c.1378G>A (p.Val460Ile) c.1366G>A (p.Val456Ile) | gnomAD v4 |
| 11 | g.22259570G>C | CA379922071 | ANO5 | c.1009G>C (p.Val337Leu) c.1417G>C (p.Val473Leu) n.2453G>C c.1414G>C (p.Val472Leu) c.1459G>C (p.Val487Leu) n.1794G>C c.1456G>C (p.Val486Leu) c.1381G>C (p.Val461Leu) c.1378G>C (p.Val460Leu) c.1366G>C (p.Val456Leu) | |
| 11 | g.22259570G>T | CA379922072 | ANO5 | c.1009G>T (p.Val337Phe) c.1417G>T (p.Val473Phe) n.2453G>T c.1414G>T (p.Val472Phe) c.1459G>T (p.Val487Phe) n.1794G>T c.1456G>T (p.Val486Phe) c.1381G>T (p.Val461Phe) c.1378G>T (p.Val460Phe) c.1366G>T (p.Val456Phe) | |
| 11 | g.22259571T>A | CA379922074 | ANO5 | c.1010T>A (p.Val337Asp) c.1418T>A (p.Val473Asp) n.2454T>A c.1415T>A (p.Val472Asp) c.1460T>A (p.Val487Asp) n.1795T>A c.1457T>A (p.Val486Asp) c.1382T>A (p.Val461Asp) c.1379T>A (p.Val460Asp) c.1367T>A (p.Val456Asp) | |
| 11 | g.22259571T>C | CA379922075 | ANO5 | c.1010T>C (p.Val337Ala) c.1418T>C (p.Val473Ala) n.2454T>C c.1415T>C (p.Val472Ala) c.1460T>C (p.Val487Ala) n.1795T>C c.1457T>C (p.Val486Ala) c.1382T>C (p.Val461Ala) c.1379T>C (p.Val460Ala) c.1367T>C (p.Val456Ala) | |
| 11 | g.22259571T>G | CA379922076 | ANO5 | c.1010T>G (p.Val337Gly) c.1418T>G (p.Val473Gly) n.2454T>G c.1415T>G (p.Val472Gly) c.1460T>G (p.Val487Gly) n.1795T>G c.1457T>G (p.Val486Gly) c.1382T>G (p.Val461Gly) c.1379T>G (p.Val460Gly) c.1367T>G (p.Val456Gly) | |
| 11 | g.22259572C>A | CA473405018 | ANO5 | c.1011C>A (p.Val337=) c.1419C>A (p.Val473=) n.2455C>A c.1416C>A (p.Val472=) c.1461C>A (p.Val487=) n.1796C>A c.1458C>A (p.Val486=) c.1383C>A (p.Val461=) c.1380C>A (p.Val460=) c.1368C>A (p.Val456=) | |
| 11 | g.22259572C>G | CA473405020 | ANO5 | c.1011C>G (p.Val337=) c.1419C>G (p.Val473=) n.2455C>G c.1416C>G (p.Val472=) c.1461C>G (p.Val487=) n.1796C>G c.1458C>G (p.Val486=) c.1383C>G (p.Val461=) c.1380C>G (p.Val460=) c.1368C>G (p.Val456=) | |
| 11 | g.22259572C>T | CA473405019 | ANO5 | c.1011C>T (p.Val337=) c.1419C>T (p.Val473=) n.2455C>T c.1416C>T (p.Val472=) c.1461C>T (p.Val487=) n.1796C>T c.1458C>T (p.Val486=) c.1383C>T (p.Val461=) c.1380C>T (p.Val460=) c.1368C>T (p.Val456=) | |
| 11 | g.22259573T>A | CA379922077 | ANO5 | c.1012T>A (p.Phe338Ile) c.1420T>A (p.Phe474Ile) n.2456T>A c.1417T>A (p.Phe473Ile) c.1462T>A (p.Phe488Ile) n.1797T>A c.1459T>A (p.Phe487Ile) c.1384T>A (p.Phe462Ile) c.1381T>A (p.Phe461Ile) c.1369T>A (p.Phe457Ile) | |
| 11 | g.22259573T>C | CA379922078 | ANO5 | c.1012T>C (p.Phe338Leu) c.1420T>C (p.Phe474Leu) n.2456T>C c.1417T>C (p.Phe473Leu) c.1462T>C (p.Phe488Leu) n.1797T>C c.1459T>C (p.Phe487Leu) c.1384T>C (p.Phe462Leu) c.1381T>C (p.Phe461Leu) c.1369T>C (p.Phe457Leu) | |
| 11 | g.22259573T>G | CA379922079 | ANO5 | c.1012T>G (p.Phe338Val) c.1420T>G (p.Phe474Val) n.2456T>G c.1417T>G (p.Phe473Val) c.1462T>G (p.Phe488Val) n.1797T>G c.1459T>G (p.Phe487Val) c.1384T>G (p.Phe462Val) c.1381T>G (p.Phe461Val) c.1369T>G (p.Phe457Val) | |
| 11 | g.22259574T>A | CA379922080 | ANO5 | c.1013T>A (p.Phe338Tyr) c.1421T>A (p.Phe474Tyr) n.2457T>A c.1418T>A (p.Phe473Tyr) c.1463T>A (p.Phe488Tyr) n.1798T>A c.1460T>A (p.Phe487Tyr) c.1385T>A (p.Phe462Tyr) c.1382T>A (p.Phe461Tyr) c.1370T>A (p.Phe457Tyr) | |
| 11 | g.22259574T>C | CA379922081 | ANO5 | c.1013T>C (p.Phe338Ser) c.1421T>C (p.Phe474Ser) n.2457T>C c.1418T>C (p.Phe473Ser) c.1463T>C (p.Phe488Ser) n.1798T>C c.1460T>C (p.Phe487Ser) c.1385T>C (p.Phe462Ser) c.1382T>C (p.Phe461Ser) c.1370T>C (p.Phe457Ser) | ClinVar dbSNP |
| 11 | g.22259574T>G | CA379922082 | ANO5 | c.1013T>G (p.Phe338Cys) c.1421T>G (p.Phe474Cys) n.2457T>G c.1418T>G (p.Phe473Cys) c.1463T>G (p.Phe488Cys) n.1798T>G c.1460T>G (p.Phe487Cys) c.1385T>G (p.Phe462Cys) c.1382T>G (p.Phe461Cys) c.1370T>G (p.Phe457Cys) | |
| 11 | g.22259574T= | CA1957418730 | ANO5 | c.1013T= (p.Phe338=) c.1421T= (p.Phe474=) n.2457T= c.1418T= (p.Phe473=) c.1463T= (p.Phe488=) n.1798T= c.1460T= (p.Phe487=) c.1385T= (p.Phe462=) c.1382T= (p.Phe461=) c.1370T= (p.Phe457=) | |
| 11 | g.22259575T>A | CA379922083 | ANO5 | c.1014T>A (p.Phe338Leu) c.1422T>A (p.Phe474Leu) n.2458T>A c.1419T>A (p.Phe473Leu) c.1464T>A (p.Phe488Leu) n.1799T>A c.1461T>A (p.Phe487Leu) c.1386T>A (p.Phe462Leu) c.1383T>A (p.Phe461Leu) c.1371T>A (p.Phe457Leu) | |
| 11 | g.22259575T>C | CA473405024 | ANO5 | c.1014T>C (p.Phe338=) c.1422T>C (p.Phe474=) n.2458T>C c.1419T>C (p.Phe473=) c.1464T>C (p.Phe488=) n.1799T>C c.1461T>C (p.Phe487=) c.1386T>C (p.Phe462=) c.1383T>C (p.Phe461=) c.1371T>C (p.Phe457=) | |
| 11 | g.22259575T>G | CA379922084 | ANO5 | c.1014T>G (p.Phe338Leu) c.1422T>G (p.Phe474Leu) n.2458T>G c.1419T>G (p.Phe473Leu) c.1464T>G (p.Phe488Leu) n.1799T>G c.1461T>G (p.Phe487Leu) c.1386T>G (p.Phe462Leu) c.1383T>G (p.Phe461Leu) c.1371T>G (p.Phe457Leu) | |
| 11 | g.22259576G>A | CA379922087 | ANO5 | c.1015G>A (p.Ala339Thr) c.1423G>A (p.Ala475Thr) n.2459G>A c.1420G>A (p.Ala474Thr) c.1465G>A (p.Ala489Thr) n.1800G>A c.1462G>A (p.Ala488Thr) c.1387G>A (p.Ala463Thr) c.1384G>A (p.Ala462Thr) c.1372G>A (p.Ala458Thr) | gnomAD v4 |
| 11 | g.22259576G>C | CA379922085 | ANO5 | c.1015G>C (p.Ala339Pro) c.1423G>C (p.Ala475Pro) n.2459G>C c.1420G>C (p.Ala474Pro) c.1465G>C (p.Ala489Pro) n.1800G>C c.1462G>C (p.Ala488Pro) c.1387G>C (p.Ala463Pro) c.1384G>C (p.Ala462Pro) c.1372G>C (p.Ala458Pro) | |
| 11 | g.22259576G>T | CA379922086 | ANO5 | c.1015G>T (p.Ala339Ser) c.1423G>T (p.Ala475Ser) n.2459G>T c.1420G>T (p.Ala474Ser) c.1465G>T (p.Ala489Ser) n.1800G>T c.1462G>T (p.Ala488Ser) c.1387G>T (p.Ala463Ser) c.1384G>T (p.Ala462Ser) c.1372G>T (p.Ala458Ser) | |
| 11 | g.22259577C>A | CA379922088 | ANO5 | c.1016C>A (p.Ala339Asp) c.1424C>A (p.Ala475Asp) n.2460C>A c.1421C>A (p.Ala474Asp) c.1466C>A (p.Ala489Asp) n.1801C>A c.1463C>A (p.Ala488Asp) c.1388C>A (p.Ala463Asp) c.1385C>A (p.Ala462Asp) c.1373C>A (p.Ala458Asp) | |
| 11 | g.22259577C>G | CA379922089 | ANO5 | c.1016C>G (p.Ala339Gly) c.1424C>G (p.Ala475Gly) n.2460C>G c.1421C>G (p.Ala474Gly) c.1466C>G (p.Ala489Gly) n.1801C>G c.1463C>G (p.Ala488Gly) c.1388C>G (p.Ala463Gly) c.1385C>G (p.Ala462Gly) c.1373C>G (p.Ala458Gly) | |
| 11 | g.22259577C>T | CA379922090 | ANO5 | c.1016C>T (p.Ala339Val) c.1424C>T (p.Ala475Val) n.2460C>T c.1421C>T (p.Ala474Val) c.1466C>T (p.Ala489Val) n.1801C>T c.1463C>T (p.Ala488Val) c.1388C>T (p.Ala463Val) c.1385C>T (p.Ala462Val) c.1373C>T (p.Ala458Val) | gnomAD v4 |
| 11 | g.22259578T>A | CA473405026 | ANO5 | c.1017T>A (p.Ala339=) c.1425T>A (p.Ala475=) n.2461T>A c.1422T>A (p.Ala474=) c.1467T>A (p.Ala489=) n.1802T>A c.1464T>A (p.Ala488=) c.1389T>A (p.Ala463=) c.1386T>A (p.Ala462=) c.1374T>A (p.Ala458=) | |
| 11 | g.22259578T>C | CA473405027 | ANO5 | c.1017T>C (p.Ala339=) c.1425T>C (p.Ala475=) n.2461T>C c.1422T>C (p.Ala474=) c.1467T>C (p.Ala489=) n.1802T>C c.1464T>C (p.Ala488=) c.1389T>C (p.Ala463=) c.1386T>C (p.Ala462=) c.1374T>C (p.Ala458=) |