Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.22259556_22259561dup | CA2695201106 | ANO5 | c.995_1000dup (p.Tyr333_Arg334insLeuTyr) c.1403_1408dup (p.Tyr469_Arg470insLeuTyr) n.2439_2444dup c.1400_1405dup (p.Tyr468_Arg469insLeuTyr) c.1445_1450dup (p.Tyr483_Arg484insLeuTyr) n.1780_1785dup c.1442_1447dup (p.Tyr482_Arg483insLeuTyr) c.1367_1372dup (p.Tyr457_Arg458insLeuTyr) c.1364_1369dup (p.Tyr456_Arg457insLeuTyr) c.1352_1357dup (p.Tyr452_Arg453insLeuTyr) | ClinVar |
11 | g.22259558T>A | CA379922047 | ANO5 | c.997T>A (p.Tyr333Asn) c.1405T>A (p.Tyr469Asn) n.2441T>A c.1402T>A (p.Tyr468Asn) c.1447T>A (p.Tyr483Asn) n.1782T>A c.1444T>A (p.Tyr482Asn) c.1369T>A (p.Tyr457Asn) c.1366T>A (p.Tyr456Asn) c.1354T>A (p.Tyr452Asn) | |
11 | g.22259558T>C | CA379922048 | ANO5 | c.997T>C (p.Tyr333His) c.1405T>C (p.Tyr469His) n.2441T>C c.1402T>C (p.Tyr468His) c.1447T>C (p.Tyr483His) n.1782T>C c.1444T>C (p.Tyr482His) c.1369T>C (p.Tyr457His) c.1366T>C (p.Tyr456His) c.1354T>C (p.Tyr452His) | |
11 | g.22259558T>G | CA379922049 | ANO5 | c.997T>G (p.Tyr333Asp) c.1405T>G (p.Tyr469Asp) n.2441T>G c.1402T>G (p.Tyr468Asp) c.1447T>G (p.Tyr483Asp) n.1782T>G c.1444T>G (p.Tyr482Asp) c.1369T>G (p.Tyr457Asp) c.1366T>G (p.Tyr456Asp) c.1354T>G (p.Tyr452Asp) | |
11 | g.22259559del | CA2612837674 | ANO5 | c.998del (p.Tyr333SerfsTer19) c.1406del (p.Tyr469SerfsTer19) n.2442del c.1403del (p.Tyr468SerfsTer19) c.1448del (p.Tyr483SerfsTer19) n.1783del c.1445del (p.Tyr482SerfsTer19) c.1370del (p.Tyr457SerfsTer19) c.1367del (p.Tyr456SerfsTer19) c.1355del (p.Tyr452SerfsTer19) | gnomAD v4 |
11 | g.22259559A= | CA1957418725 | ANO5 | c.998A= (p.Tyr333=) c.1406A= (p.Tyr469=) n.2442A= c.1403A= (p.Tyr468=) c.1448A= (p.Tyr483=) n.1783A= c.1445A= (p.Tyr482=) c.1370A= (p.Tyr457=) c.1367A= (p.Tyr456=) c.1355A= (p.Tyr452=) | |
11 | g.22259559A>C | CA379922050 | ANO5 | c.998A>C (p.Tyr333Ser) c.1406A>C (p.Tyr469Ser) n.2442A>C c.1403A>C (p.Tyr468Ser) c.1448A>C (p.Tyr483Ser) n.1783A>C c.1445A>C (p.Tyr482Ser) c.1370A>C (p.Tyr457Ser) c.1367A>C (p.Tyr456Ser) c.1355A>C (p.Tyr452Ser) | |
11 | g.22259559A>G | CA379922051 | ANO5 | c.998A>G (p.Tyr333Cys) c.1406A>G (p.Tyr469Cys) n.2442A>G c.1403A>G (p.Tyr468Cys) c.1448A>G (p.Tyr483Cys) n.1783A>G c.1445A>G (p.Tyr482Cys) c.1370A>G (p.Tyr457Cys) c.1367A>G (p.Tyr456Cys) c.1355A>G (p.Tyr452Cys) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.22259559A>T | CA379922052 | ANO5 | c.998A>T (p.Tyr333Phe) c.1406A>T (p.Tyr469Phe) n.2442A>T c.1403A>T (p.Tyr468Phe) c.1448A>T (p.Tyr483Phe) n.1783A>T c.1445A>T (p.Tyr482Phe) c.1370A>T (p.Tyr457Phe) c.1367A>T (p.Tyr456Phe) c.1355A>T (p.Tyr452Phe) | |
11 | g.22259560C>A | CA379922053 | ANO5 | c.999C>A (p.Tyr333Ter) c.1407C>A (p.Tyr469Ter) n.2443C>A c.1404C>A (p.Tyr468Ter) c.1449C>A (p.Tyr483Ter) n.1784C>A c.1446C>A (p.Tyr482Ter) c.1371C>A (p.Tyr457Ter) c.1368C>A (p.Tyr456Ter) c.1356C>A (p.Tyr452Ter) | dbSNP |
11 | g.22259560C= | CA1957418726 | ANO5 | c.999C= (p.Tyr333=) c.1407C= (p.Tyr469=) n.2443C= c.1404C= (p.Tyr468=) c.1449C= (p.Tyr483=) n.1784C= c.1446C= (p.Tyr482=) c.1371C= (p.Tyr457=) c.1368C= (p.Tyr456=) c.1356C= (p.Tyr452=) | |
11 | g.22259560C>G | CA379922054 | ANO5 | c.999C>G (p.Tyr333Ter) c.1407C>G (p.Tyr469Ter) n.2443C>G c.1404C>G (p.Tyr468Ter) c.1449C>G (p.Tyr483Ter) n.1784C>G c.1446C>G (p.Tyr482Ter) c.1371C>G (p.Tyr457Ter) c.1368C>G (p.Tyr456Ter) c.1356C>G (p.Tyr452Ter) | |
11 | g.22259560C>T | CA473405000 | ANO5 | c.999C>T (p.Tyr333=) c.1407C>T (p.Tyr469=) n.2443C>T c.1404C>T (p.Tyr468=) c.1449C>T (p.Tyr483=) n.1784C>T c.1446C>T (p.Tyr482=) c.1371C>T (p.Tyr457=) c.1368C>T (p.Tyr456=) c.1356C>T (p.Tyr452=) | gnomAD v4 |
11 | g.22259561C>A | CA379922056 | ANO5 | c.1000C>A (p.Arg334Ser) c.1408C>A (p.Arg470Ser) n.2444C>A c.1405C>A (p.Arg469Ser) c.1450C>A (p.Arg484Ser) n.1785C>A c.1447C>A (p.Arg483Ser) c.1372C>A (p.Arg458Ser) c.1369C>A (p.Arg457Ser) c.1357C>A (p.Arg453Ser) | |
11 | g.22259561C= | CA1957418727 | ANO5 | c.1000C= (p.Arg334=) c.1408C= (p.Arg470=) n.2444C= c.1405C= (p.Arg469=) c.1450C= (p.Arg484=) n.1785C= c.1447C= (p.Arg483=) c.1372C= (p.Arg458=) c.1369C= (p.Arg457=) c.1357C= (p.Arg453=) | |
11 | g.22259561C>G | CA379922055 | ANO5 | c.1000C>G (p.Arg334Gly) c.1408C>G (p.Arg470Gly) n.2444C>G c.1405C>G (p.Arg469Gly) c.1450C>G (p.Arg484Gly) n.1785C>G c.1447C>G (p.Arg483Gly) c.1372C>G (p.Arg458Gly) c.1369C>G (p.Arg457Gly) c.1357C>G (p.Arg453Gly) | |
11 | g.22259561C>T | CA5923264 | ANO5 | c.1000C>T (p.Arg334Cys) c.1408C>T (p.Arg470Cys) n.2444C>T c.1405C>T (p.Arg469Cys) c.1450C>T (p.Arg484Cys) n.1785C>T c.1447C>T (p.Arg483Cys) c.1372C>T (p.Arg458Cys) c.1369C>T (p.Arg457Cys) c.1357C>T (p.Arg453Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.22259562G>A | CA379922057 | ANO5 | c.1001G>A (p.Arg334His) c.1409G>A (p.Arg470His) n.2445G>A c.1406G>A (p.Arg469His) c.1451G>A (p.Arg484His) n.1786G>A c.1448G>A (p.Arg483His) c.1373G>A (p.Arg458His) c.1370G>A (p.Arg457His) c.1358G>A (p.Arg453His) | ClinVar gnomAD v4 COSMIC |
11 | g.22259562G>C | CA379922058 | ANO5 | c.1001G>C (p.Arg334Pro) c.1409G>C (p.Arg470Pro) n.2445G>C c.1406G>C (p.Arg469Pro) c.1451G>C (p.Arg484Pro) n.1786G>C c.1448G>C (p.Arg483Pro) c.1373G>C (p.Arg458Pro) c.1370G>C (p.Arg457Pro) c.1358G>C (p.Arg453Pro) | |
11 | g.22259562G>T | CA379922059 | ANO5 | c.1001G>T (p.Arg334Leu) c.1409G>T (p.Arg470Leu) n.2445G>T c.1406G>T (p.Arg469Leu) c.1451G>T (p.Arg484Leu) n.1786G>T c.1448G>T (p.Arg483Leu) c.1373G>T (p.Arg458Leu) c.1370G>T (p.Arg457Leu) c.1358G>T (p.Arg453Leu) | gnomAD v4 |
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=) | |
11 | g.22259578T>G | CA473405029 | ANO5 | c.1017T>G (p.Ala339=) c.1425T>G (p.Ala475=) n.2461T>G c.1422T>G (p.Ala474=) c.1467T>G (p.Ala489=) n.1802T>G c.1464T>G (p.Ala488=) c.1389T>G (p.Ala463=) c.1386T>G (p.Ala462=) c.1374T>G (p.Ala458=) | gnomAD v4 |
11 | g.22259579A= | CA1957418731 | ANO5 | c.1018A= (p.Thr340=) c.1426A= (p.Thr476=) n.2462A= c.1423A= (p.Thr475=) c.1468A= (p.Thr490=) n.1803A= c.1465A= (p.Thr489=) c.1390A= (p.Thr464=) c.1387A= (p.Thr463=) c.1375A= (p.Thr459=) | |
11 | g.22259579A>C | CA379922091 | ANO5 | c.1018A>C (p.Thr340Pro) c.1426A>C (p.Thr476Pro) n.2462A>C c.1423A>C (p.Thr475Pro) c.1468A>C (p.Thr490Pro) n.1803A>C c.1465A>C (p.Thr489Pro) c.1390A>C (p.Thr464Pro) c.1387A>C (p.Thr463Pro) c.1375A>C (p.Thr459Pro) | |
11 | g.22259579A>G | CA5923266 | ANO5 | c.1018A>G (p.Thr340Ala) c.1426A>G (p.Thr476Ala) n.2462A>G c.1423A>G (p.Thr475Ala) c.1468A>G (p.Thr490Ala) n.1803A>G c.1465A>G (p.Thr489Ala) c.1390A>G (p.Thr464Ala) c.1387A>G (p.Thr463Ala) c.1375A>G (p.Thr459Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22259579A>T | CA5923267 | ANO5 | c.1018A>T (p.Thr340Ser) c.1426A>T (p.Thr476Ser) n.2462A>T c.1423A>T (p.Thr475Ser) c.1468A>T (p.Thr490Ser) n.1803A>T c.1465A>T (p.Thr489Ser) c.1390A>T (p.Thr464Ser) c.1387A>T (p.Thr463Ser) c.1375A>T (p.Thr459Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22259580C>A | CA379922092 | ANO5 | c.1019C>A (p.Thr340Lys) c.1427C>A (p.Thr476Lys) n.2463C>A c.1424C>A (p.Thr475Lys) c.1469C>A (p.Thr490Lys) n.1804C>A c.1466C>A (p.Thr489Lys) c.1391C>A (p.Thr464Lys) c.1388C>A (p.Thr463Lys) c.1376C>A (p.Thr459Lys) | gnomAD v4 |
11 | g.22259580C= | CA1957418732 | ANO5 | c.1019C= (p.Thr340=) c.1427C= (p.Thr476=) n.2463C= c.1424C= (p.Thr475=) c.1469C= (p.Thr490=) n.1804C= c.1466C= (p.Thr489=) c.1391C= (p.Thr464=) c.1388C= (p.Thr463=) c.1376C= (p.Thr459=) | |
11 | g.22259580C>G | CA379922093 | ANO5 | c.1019C>G (p.Thr340Arg) c.1427C>G (p.Thr476Arg) n.2463C>G c.1424C>G (p.Thr475Arg) c.1469C>G (p.Thr490Arg) n.1804C>G c.1466C>G (p.Thr489Arg) c.1391C>G (p.Thr464Arg) c.1388C>G (p.Thr463Arg) c.1376C>G (p.Thr459Arg) | |
11 | g.22259580C>T | CA379922094 | ANO5 | c.1019C>T (p.Thr340Ile) c.1427C>T (p.Thr476Ile) n.2463C>T c.1424C>T (p.Thr475Ile) c.1469C>T (p.Thr490Ile) n.1804C>T c.1466C>T (p.Thr489Ile) c.1391C>T (p.Thr464Ile) c.1388C>T (p.Thr463Ile) c.1376C>T (p.Thr459Ile) | dbSNP |
11 | g.22259581A= | CA1957418733 | ANO5 | c.1020A= (p.Thr340=) c.1428A= (p.Thr476=) n.2464A= c.1425A= (p.Thr475=) c.1470A= (p.Thr490=) n.1805A= c.1467A= (p.Thr489=) c.1392A= (p.Thr464=) c.1389A= (p.Thr463=) c.1377A= (p.Thr459=) | |
11 | g.22259581A>C | CA473405035 | ANO5 | c.1020A>C (p.Thr340=) c.1428A>C (p.Thr476=) n.2464A>C c.1425A>C (p.Thr475=) c.1470A>C (p.Thr490=) n.1805A>C c.1467A>C (p.Thr489=) c.1392A>C (p.Thr464=) c.1389A>C (p.Thr463=) c.1377A>C (p.Thr459=) | |
11 | g.22259581A>G | CA473405036 | ANO5 | c.1020A>G (p.Thr340=) c.1428A>G (p.Thr476=) n.2464A>G c.1425A>G (p.Thr475=) c.1470A>G (p.Thr490=) n.1805A>G c.1467A>G (p.Thr489=) c.1392A>G (p.Thr464=) c.1389A>G (p.Thr463=) c.1377A>G (p.Thr459=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.22259581A>T | CA473405037 | ANO5 | c.1020A>T (p.Thr340=) c.1428A>T (p.Thr476=) n.2464A>T c.1425A>T (p.Thr475=) c.1470A>T (p.Thr490=) n.1805A>T c.1467A>T (p.Thr489=) c.1392A>T (p.Thr464=) c.1389A>T (p.Thr463=) c.1377A>T (p.Thr459=) | gnomAD v4 |
11 | g.22259582T>A | CA379922095 | ANO5 | c.1021T>A (p.Phe341Ile) c.1429T>A (p.Phe477Ile) n.2465T>A c.1426T>A (p.Phe476Ile) c.1471T>A (p.Phe491Ile) n.1806T>A c.1468T>A (p.Phe490Ile) c.1393T>A (p.Phe465Ile) c.1390T>A (p.Phe464Ile) c.1378T>A (p.Phe460Ile) | |
11 | g.22259582T>C | CA379922096 | ANO5 | c.1021T>C (p.Phe341Leu) c.1429T>C (p.Phe477Leu) n.2465T>C c.1426T>C (p.Phe476Leu) c.1471T>C (p.Phe491Leu) n.1806T>C c.1468T>C (p.Phe490Leu) c.1393T>C (p.Phe465Leu) c.1390T>C (p.Phe464Leu) c.1378T>C (p.Phe460Leu) | |
11 | g.22259582T>G | CA379922097 | ANO5 | c.1021T>G (p.Phe341Val) c.1429T>G (p.Phe477Val) n.2465T>G c.1426T>G (p.Phe476Val) c.1471T>G (p.Phe491Val) n.1806T>G c.1468T>G (p.Phe490Val) c.1393T>G (p.Phe465Val) c.1390T>G (p.Phe464Val) c.1378T>G (p.Phe460Val) | |
11 | g.22259583T>A | CA379922099 | ANO5 | c.1022T>A (p.Phe341Tyr) c.1430T>A (p.Phe477Tyr) n.2466T>A c.1427T>A (p.Phe476Tyr) c.1472T>A (p.Phe491Tyr) n.1807T>A c.1469T>A (p.Phe490Tyr) c.1394T>A (p.Phe465Tyr) c.1391T>A (p.Phe464Tyr) c.1379T>A (p.Phe460Tyr) | |
11 | g.22259583T>C | CA379922100 | ANO5 | c.1022T>C (p.Phe341Ser) c.1430T>C (p.Phe477Ser) n.2466T>C c.1427T>C (p.Phe476Ser) c.1472T>C (p.Phe491Ser) n.1807T>C c.1469T>C (p.Phe490Ser) c.1394T>C (p.Phe465Ser) c.1391T>C (p.Phe464Ser) c.1379T>C (p.Phe460Ser) | |
11 | g.22259583T>G | CA379922098 | ANO5 | c.1022T>G (p.Phe341Cys) c.1430T>G (p.Phe477Cys) n.2466T>G c.1427T>G (p.Phe476Cys) c.1472T>G (p.Phe491Cys) n.1807T>G c.1469T>G (p.Phe490Cys) c.1394T>G (p.Phe465Cys) c.1391T>G (p.Phe464Cys) c.1379T>G (p.Phe460Cys) | |
11 | g.22259584T>A | CA379922101 | ANO5 | c.1023T>A (p.Phe341Leu) c.1431T>A (p.Phe477Leu) n.2467T>A c.1428T>A (p.Phe476Leu) c.1473T>A (p.Phe491Leu) n.1808T>A c.1470T>A (p.Phe490Leu) c.1395T>A (p.Phe465Leu) c.1392T>A (p.Phe464Leu) c.1380T>A (p.Phe460Leu) | |
11 | g.22259584T>C | CA473405044 | ANO5 | c.1023T>C (p.Phe341=) c.1431T>C (p.Phe477=) n.2467T>C c.1428T>C (p.Phe476=) c.1473T>C (p.Phe491=) n.1808T>C c.1470T>C (p.Phe490=) c.1395T>C (p.Phe465=) c.1392T>C (p.Phe464=) c.1380T>C (p.Phe460=) | |
11 | g.22259584T>G | CA379922102 | ANO5 | c.1023T>G (p.Phe341Leu) c.1431T>G (p.Phe477Leu) n.2467T>G c.1428T>G (p.Phe476Leu) c.1473T>G (p.Phe491Leu) n.1808T>G c.1470T>G (p.Phe490Leu) c.1395T>G (p.Phe465Leu) c.1392T>G (p.Phe464Leu) c.1380T>G (p.Phe460Leu) | |
11 | g.22259585G>A | CA379922103 | ANO5 | c.1024G>A (p.Ala342Thr) c.1432G>A (p.Ala478Thr) n.2468G>A c.1429G>A (p.Ala477Thr) c.1474G>A (p.Ala492Thr) n.1809G>A c.1471G>A (p.Ala491Thr) c.1396G>A (p.Ala466Thr) c.1393G>A (p.Ala465Thr) c.1381G>A (p.Ala461Thr) | |
11 | g.22259585G>C | CA379922104 | ANO5 | c.1024G>C (p.Ala342Pro) c.1432G>C (p.Ala478Pro) n.2468G>C c.1429G>C (p.Ala477Pro) c.1474G>C (p.Ala492Pro) n.1809G>C c.1471G>C (p.Ala491Pro) c.1396G>C (p.Ala466Pro) c.1393G>C (p.Ala465Pro) c.1381G>C (p.Ala461Pro) | |
11 | g.22259585G>T | CA379922105 | ANO5 | c.1024G>T (p.Ala342Ser) c.1432G>T (p.Ala478Ser) n.2468G>T c.1429G>T (p.Ala477Ser) c.1474G>T (p.Ala492Ser) n.1809G>T c.1471G>T (p.Ala491Ser) c.1396G>T (p.Ala466Ser) c.1393G>T (p.Ala465Ser) c.1381G>T (p.Ala461Ser) | gnomAD v4 |
11 | g.22259586C>A | CA379922106 | ANO5 | c.1025C>A (p.Ala342Asp) c.1433C>A (p.Ala478Asp) n.2469C>A c.1430C>A (p.Ala477Asp) c.1475C>A (p.Ala492Asp) n.1810C>A c.1472C>A (p.Ala491Asp) c.1397C>A (p.Ala466Asp) c.1394C>A (p.Ala465Asp) c.1382C>A (p.Ala461Asp) | |
11 | g.22259586C>G | CA379922107 | ANO5 | c.1025C>G (p.Ala342Gly) c.1433C>G (p.Ala478Gly) n.2469C>G c.1430C>G (p.Ala477Gly) c.1475C>G (p.Ala492Gly) n.1810C>G c.1472C>G (p.Ala491Gly) c.1397C>G (p.Ala466Gly) c.1394C>G (p.Ala465Gly) c.1382C>G (p.Ala461Gly) | |
11 | g.22259586C>T | CA379922108 | ANO5 | c.1025C>T (p.Ala342Val) c.1433C>T (p.Ala478Val) n.2469C>T c.1430C>T (p.Ala477Val) c.1475C>T (p.Ala492Val) n.1810C>T c.1472C>T (p.Ala491Val) c.1397C>T (p.Ala466Val) c.1394C>T (p.Ala465Val) c.1382C>T (p.Ala461Val) | |
11 | g.22259587T>A | CA473405048 | ANO5 | c.1026T>A (p.Ala342=) c.1434T>A (p.Ala478=) n.2470T>A c.1431T>A (p.Ala477=) c.1476T>A (p.Ala492=) n.1811T>A c.1473T>A (p.Ala491=) c.1398T>A (p.Ala466=) c.1395T>A (p.Ala465=) c.1383T>A (p.Ala461=) | |
11 | g.22259587T>C | CA473405049 | ANO5 | c.1026T>C (p.Ala342=) c.1434T>C (p.Ala478=) n.2470T>C c.1431T>C (p.Ala477=) c.1476T>C (p.Ala492=) n.1811T>C c.1473T>C (p.Ala491=) c.1398T>C (p.Ala466=) c.1395T>C (p.Ala465=) c.1383T>C (p.Ala461=) | |
11 | g.22259587T>G | CA473405050 | ANO5 | c.1026T>G (p.Ala342=) c.1434T>G (p.Ala478=) n.2470T>G c.1431T>G (p.Ala477=) c.1476T>G (p.Ala492=) n.1811T>G c.1473T>G (p.Ala491=) c.1398T>G (p.Ala466=) c.1395T>G (p.Ala465=) c.1383T>G (p.Ala461=) | gnomAD v4 |
11 | g.22259588A= | CA1957418734 | ANO5 | c.1027A= (p.Ser343=) c.1435A= (p.Ser479=) n.2471A= c.1432A= (p.Ser478=) c.1477A= (p.Ser493=) n.1812A= c.1474A= (p.Ser492=) c.1399A= (p.Ser467=) c.1396A= (p.Ser466=) c.1384A= (p.Ser462=) | |
11 | g.22259588A>C | CA379922109 | ANO5 | c.1027A>C (p.Ser343Arg) c.1435A>C (p.Ser479Arg) n.2471A>C c.1432A>C (p.Ser478Arg) c.1477A>C (p.Ser493Arg) n.1812A>C c.1474A>C (p.Ser492Arg) c.1399A>C (p.Ser467Arg) c.1396A>C (p.Ser466Arg) c.1384A>C (p.Ser462Arg) | |
11 | g.22259588A>G | CA379922110 | ANO5 | c.1027A>G (p.Ser343Gly) c.1435A>G (p.Ser479Gly) n.2471A>G c.1432A>G (p.Ser478Gly) c.1477A>G (p.Ser493Gly) n.1812A>G c.1474A>G (p.Ser492Gly) c.1399A>G (p.Ser467Gly) c.1396A>G (p.Ser466Gly) c.1384A>G (p.Ser462Gly) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.22259588A>T | CA379922111 | ANO5 | c.1027A>T (p.Ser343Cys) c.1435A>T (p.Ser479Cys) n.2471A>T c.1432A>T (p.Ser478Cys) c.1477A>T (p.Ser493Cys) n.1812A>T c.1474A>T (p.Ser492Cys) c.1399A>T (p.Ser467Cys) c.1396A>T (p.Ser466Cys) c.1384A>T (p.Ser462Cys) | |
11 | g.22259589G>A | CA379922112 | ANO5 | c.1028G>A (p.Ser343Asn) c.1436G>A (p.Ser479Asn) n.2472G>A c.1433G>A (p.Ser478Asn) c.1478G>A (p.Ser493Asn) n.1813G>A c.1475G>A (p.Ser492Asn) c.1400G>A (p.Ser467Asn) c.1397G>A (p.Ser466Asn) c.1385G>A (p.Ser462Asn) | |
11 | g.22259589G>C | CA379922113 | ANO5 | c.1028G>C (p.Ser343Thr) c.1436G>C (p.Ser479Thr) n.2472G>C c.1433G>C (p.Ser478Thr) c.1478G>C (p.Ser493Thr) n.1813G>C c.1475G>C (p.Ser492Thr) c.1400G>C (p.Ser467Thr) c.1397G>C (p.Ser466Thr) c.1385G>C (p.Ser462Thr) | |
11 | g.22259589G= | CA1957418735 | ANO5 | c.1028G= (p.Ser343=) c.1436G= (p.Ser479=) n.2472G= c.1433G= (p.Ser478=) c.1478G= (p.Ser493=) n.1813G= c.1475G= (p.Ser492=) c.1400G= (p.Ser467=) c.1397G= (p.Ser466=) c.1385G= (p.Ser462=) | |
11 | g.22259589G>T | CA379922114 | ANO5 | c.1028G>T (p.Ser343Ile) c.1436G>T (p.Ser479Ile) n.2472G>T c.1433G>T (p.Ser478Ile) c.1478G>T (p.Ser493Ile) n.1813G>T c.1475G>T (p.Ser492Ile) c.1400G>T (p.Ser467Ile) c.1397G>T (p.Ser466Ile) c.1385G>T (p.Ser462Ile) | dbSNP |
11 | g.22259590T>A | CA379922116 | ANO5 | c.1029T>A (p.Ser343Arg) c.1437T>A (p.Ser479Arg) n.2473T>A c.1434T>A (p.Ser478Arg) c.1479T>A (p.Ser493Arg) n.1814T>A c.1476T>A (p.Ser492Arg) c.1401T>A (p.Ser467Arg) c.1398T>A (p.Ser466Arg) c.1386T>A (p.Ser462Arg) | |
11 | g.22259590T>C | CA473405053 | ANO5 | c.1029T>C (p.Ser343=) c.1437T>C (p.Ser479=) n.2473T>C c.1434T>C (p.Ser478=) c.1479T>C (p.Ser493=) n.1814T>C c.1476T>C (p.Ser492=) c.1401T>C (p.Ser467=) c.1398T>C (p.Ser466=) c.1386T>C (p.Ser462=) | |
11 | g.22259590T>G | CA379922115 | ANO5 | c.1029T>G (p.Ser343Arg) c.1437T>G (p.Ser479Arg) n.2473T>G c.1434T>G (p.Ser478Arg) c.1479T>G (p.Ser493Arg) n.1814T>G c.1476T>G (p.Ser492Arg) c.1401T>G (p.Ser467Arg) c.1398T>G (p.Ser466Arg) c.1386T>G (p.Ser462Arg) | |
11 | g.22259591T>A | CA379922117 | ANO5 | c.1030T>A (p.Phe344Ile) c.1438T>A (p.Phe480Ile) n.2474T>A c.1435T>A (p.Phe479Ile) c.1480T>A (p.Phe494Ile) n.1815T>A c.1477T>A (p.Phe493Ile) c.1402T>A (p.Phe468Ile) c.1399T>A (p.Phe467Ile) c.1387T>A (p.Phe463Ile) | |
11 | g.22259591T>C | CA379922118 | ANO5 | c.1030T>C (p.Phe344Leu) c.1438T>C (p.Phe480Leu) n.2474T>C c.1435T>C (p.Phe479Leu) c.1480T>C (p.Phe494Leu) n.1815T>C c.1477T>C (p.Phe493Leu) c.1402T>C (p.Phe468Leu) c.1399T>C (p.Phe467Leu) c.1387T>C (p.Phe463Leu) | |
11 | g.22259591T>G | CA379922119 | ANO5 | c.1030T>G (p.Phe344Val) c.1438T>G (p.Phe480Val) n.2474T>G c.1435T>G (p.Phe479Val) c.1480T>G (p.Phe494Val) n.1815T>G c.1477T>G (p.Phe493Val) c.1402T>G (p.Phe468Val) c.1399T>G (p.Phe467Val) c.1387T>G (p.Phe463Val) | |
11 | g.22259592T>A | CA379922120 | ANO5 | c.1031T>A (p.Phe344Tyr) c.1439T>A (p.Phe480Tyr) n.2475T>A c.1436T>A (p.Phe479Tyr) c.1481T>A (p.Phe494Tyr) n.1816T>A c.1478T>A (p.Phe493Tyr) c.1403T>A (p.Phe468Tyr) c.1400T>A (p.Phe467Tyr) c.1388T>A (p.Phe463Tyr) | |
11 | g.22259592T>C | CA379922121 | ANO5 | c.1031T>C (p.Phe344Ser) c.1439T>C (p.Phe480Ser) n.2475T>C c.1436T>C (p.Phe479Ser) c.1481T>C (p.Phe494Ser) n.1816T>C c.1478T>C (p.Phe493Ser) c.1403T>C (p.Phe468Ser) c.1400T>C (p.Phe467Ser) c.1388T>C (p.Phe463Ser) | |
11 | g.22259592T>G | CA379922122 | ANO5 | c.1031T>G (p.Phe344Cys) c.1439T>G (p.Phe480Cys) n.2475T>G c.1436T>G (p.Phe479Cys) c.1481T>G (p.Phe494Cys) n.1816T>G c.1478T>G (p.Phe493Cys) c.1403T>G (p.Phe468Cys) c.1400T>G (p.Phe467Cys) c.1388T>G (p.Phe463Cys) | |
11 | g.22259593C>A | CA379922123 | ANO5 | c.1032C>A (p.Phe344Leu) c.1440C>A (p.Phe480Leu) n.2476C>A c.1437C>A (p.Phe479Leu) c.1482C>A (p.Phe494Leu) n.1817C>A c.1479C>A (p.Phe493Leu) c.1404C>A (p.Phe468Leu) c.1401C>A (p.Phe467Leu) c.1389C>A (p.Phe463Leu) | |
11 | g.22259593C= | CA1957418736 | ANO5 | c.1032C= (p.Phe344=) c.1440C= (p.Phe480=) n.2476C= c.1437C= (p.Phe479=) c.1482C= (p.Phe494=) n.1817C= c.1479C= (p.Phe493=) c.1404C= (p.Phe468=) c.1401C= (p.Phe467=) c.1389C= (p.Phe463=) | |
11 | g.22259593C>G | CA379922124 | ANO5 | c.1032C>G (p.Phe344Leu) c.1440C>G (p.Phe480Leu) n.2476C>G c.1437C>G (p.Phe479Leu) c.1482C>G (p.Phe494Leu) n.1817C>G c.1479C>G (p.Phe493Leu) c.1404C>G (p.Phe468Leu) c.1401C>G (p.Phe467Leu) c.1389C>G (p.Phe463Leu) | dbSNP gnomAD v2 |
11 | g.22259593C>T | CA5923268 | ANO5 | c.1032C>T (p.Phe344=) c.1440C>T (p.Phe480=) n.2476C>T c.1437C>T (p.Phe479=) c.1482C>T (p.Phe494=) n.1817C>T c.1479C>T (p.Phe493=) c.1404C>T (p.Phe468=) c.1401C>T (p.Phe467=) c.1389C>T (p.Phe463=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22259594A= | CA1957418737 | ANO5 | c.1033A= (p.Met345=) c.1441A= (p.Met481=) n.2477A= c.1438A= (p.Met480=) c.1483A= (p.Met495=) n.1818A= c.1480A= (p.Met494=) c.1405A= (p.Met469=) c.1402A= (p.Met468=) c.1390A= (p.Met464=) | |
11 | g.22259594A>C | CA379922125 | ANO5 | c.1033A>C (p.Met345Leu) c.1441A>C (p.Met481Leu) n.2477A>C c.1438A>C (p.Met480Leu) c.1483A>C (p.Met495Leu) n.1818A>C c.1480A>C (p.Met494Leu) c.1405A>C (p.Met469Leu) c.1402A>C (p.Met468Leu) c.1390A>C (p.Met464Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22259594A>G | CA379922126 | ANO5 | c.1033A>G (p.Met345Val) c.1441A>G (p.Met481Val) n.2477A>G c.1438A>G (p.Met480Val) c.1483A>G (p.Met495Val) n.1818A>G c.1480A>G (p.Met494Val) c.1405A>G (p.Met469Val) c.1402A>G (p.Met468Val) c.1390A>G (p.Met464Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22259594A>T | CA379922127 | ANO5 | c.1033A>T (p.Met345Leu) c.1441A>T (p.Met481Leu) n.2477A>T c.1438A>T (p.Met480Leu) c.1483A>T (p.Met495Leu) n.1818A>T c.1480A>T (p.Met494Leu) c.1405A>T (p.Met469Leu) c.1402A>T (p.Met468Leu) c.1390A>T (p.Met464Leu) | |
11 | g.22259595T>A | CA379922129 | ANO5 | c.1034T>A (p.Met345Lys) c.1442T>A (p.Met481Lys) n.2478T>A c.1439T>A (p.Met480Lys) c.1484T>A (p.Met495Lys) n.1819T>A c.1481T>A (p.Met494Lys) c.1406T>A (p.Met469Lys) c.1403T>A (p.Met468Lys) c.1391T>A (p.Met464Lys) | |
11 | g.22259595T>C | CA5923269 | ANO5 | c.1034T>C (p.Met345Thr) c.1442T>C (p.Met481Thr) n.2478T>C c.1439T>C (p.Met480Thr) c.1484T>C (p.Met495Thr) n.1819T>C c.1481T>C (p.Met494Thr) c.1406T>C (p.Met469Thr) c.1403T>C (p.Met468Thr) c.1391T>C (p.Met464Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22259595T>G | CA379922128 | ANO5 | c.1034T>G (p.Met345Arg) c.1442T>G (p.Met481Arg) n.2478T>G c.1439T>G (p.Met480Arg) c.1484T>G (p.Met495Arg) n.1819T>G c.1481T>G (p.Met494Arg) c.1406T>G (p.Met469Arg) c.1403T>G (p.Met468Arg) c.1391T>G (p.Met464Arg) | |
11 | g.22259595T= | CA1957418738 | ANO5 | c.1034T= (p.Met345=) c.1442T= (p.Met481=) n.2478T= c.1439T= (p.Met480=) c.1484T= (p.Met495=) n.1819T= c.1481T= (p.Met494=) c.1406T= (p.Met469=) c.1403T= (p.Met468=) c.1391T= (p.Met464=) | |
11 | g.22259596G>A | CA379922130 | ANO5 | c.1035G>A (p.Met345Ile) c.1443G>A (p.Met481Ile) n.2479G>A c.1440G>A (p.Met480Ile) c.1485G>A (p.Met495Ile) n.1820G>A c.1482G>A (p.Met494Ile) c.1407G>A (p.Met469Ile) c.1404G>A (p.Met468Ile) c.1392G>A (p.Met464Ile) | |
11 | g.22259596G>C | CA379922131 | ANO5 | c.1035G>C (p.Met345Ile) c.1443G>C (p.Met481Ile) n.2479G>C c.1440G>C (p.Met480Ile) c.1485G>C (p.Met495Ile) n.1820G>C c.1482G>C (p.Met494Ile) c.1407G>C (p.Met469Ile) c.1404G>C (p.Met468Ile) c.1392G>C (p.Met464Ile) | |
11 | g.22259596G>T | CA379922132 | ANO5 | c.1035G>T (p.Met345Ile) c.1443G>T (p.Met481Ile) n.2479G>T c.1440G>T (p.Met480Ile) c.1485G>T (p.Met495Ile) n.1820G>T c.1482G>T (p.Met494Ile) c.1407G>T (p.Met469Ile) c.1404G>T (p.Met468Ile) c.1392G>T (p.Met464Ile) | |
11 | g.22259597G>A | CA379922133 | ANO5 | c.1036G>A (p.Glu346Lys) c.1444G>A (p.Glu482Lys) n.2480G>A c.1441G>A (p.Glu481Lys) c.1486G>A (p.Glu496Lys) n.1821G>A c.1483G>A (p.Glu495Lys) c.1408G>A (p.Glu470Lys) c.1405G>A (p.Glu469Lys) c.1393G>A (p.Glu465Lys) | ClinVar dbSNP gnomAD v4 |
11 | g.22259597G>C | CA379922134 | ANO5 | c.1036G>C (p.Glu346Gln) c.1444G>C (p.Glu482Gln) n.2480G>C c.1441G>C (p.Glu481Gln) c.1486G>C (p.Glu496Gln) n.1821G>C c.1483G>C (p.Glu495Gln) c.1408G>C (p.Glu470Gln) c.1405G>C (p.Glu469Gln) c.1393G>C (p.Glu465Gln) | |
11 | g.22259597G= | CA1957418739 | ANO5 | c.1036G= (p.Glu346=) c.1444G= (p.Glu482=) n.2480G= c.1441G= (p.Glu481=) c.1486G= (p.Glu496=) n.1821G= c.1483G= (p.Glu495=) c.1408G= (p.Glu470=) c.1405G= (p.Glu469=) c.1393G= (p.Glu465=) | |
11 | g.22259597G>T | CA379922135 | ANO5 | c.1036G>T (p.Glu346Ter) c.1444G>T (p.Glu482Ter) n.2480G>T c.1441G>T (p.Glu481Ter) c.1486G>T (p.Glu496Ter) n.1821G>T c.1483G>T (p.Glu495Ter) c.1408G>T (p.Glu470Ter) c.1405G>T (p.Glu469Ter) c.1393G>T (p.Glu465Ter) | |
11 | g.22259598A= | CA1957418740 | ANO5 | c.1037A= (p.Glu346=) c.1445A= (p.Glu482=) n.2481A= c.1442A= (p.Glu481=) c.1487A= (p.Glu496=) n.1822A= c.1484A= (p.Glu495=) c.1409A= (p.Glu470=) c.1406A= (p.Glu469=) c.1394A= (p.Glu465=) | |
11 | g.22259598A>C | CA379922136 | ANO5 | c.1037A>C (p.Glu346Ala) c.1445A>C (p.Glu482Ala) n.2481A>C c.1442A>C (p.Glu481Ala) c.1487A>C (p.Glu496Ala) n.1822A>C c.1484A>C (p.Glu495Ala) c.1409A>C (p.Glu470Ala) c.1406A>C (p.Glu469Ala) c.1394A>C (p.Glu465Ala) | |
11 | g.22259598A>G | CA5923270 | ANO5 | c.1037A>G (p.Glu346Gly) c.1445A>G (p.Glu482Gly) n.2481A>G c.1442A>G (p.Glu481Gly) c.1487A>G (p.Glu496Gly) n.1822A>G c.1484A>G (p.Glu495Gly) c.1409A>G (p.Glu470Gly) c.1406A>G (p.Glu469Gly) c.1394A>G (p.Glu465Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.22259598A>T | CA379922137 | ANO5 | c.1037A>T (p.Glu346Val) c.1445A>T (p.Glu482Val) n.2481A>T c.1442A>T (p.Glu481Val) c.1487A>T (p.Glu496Val) n.1822A>T c.1484A>T (p.Glu495Val) c.1409A>T (p.Glu470Val) c.1406A>T (p.Glu469Val) c.1394A>T (p.Glu465Val) | |
11 | g.22259600del | CA2612837703 | ANO5 | c.1039del (p.Ser347ValfsTer5) c.1447del (p.Ser483ValfsTer5) n.2483del c.1444del (p.Ser482ValfsTer5) c.1489del (p.Ser497ValfsTer5) n.1824del c.1486del (p.Ser496ValfsTer5) c.1411del (p.Ser471ValfsTer5) c.1408del (p.Ser470ValfsTer5) c.1396del (p.Ser466ValfsTer5) | gnomAD v4 |
11 | g.22259599A>C | CA379922138 | ANO5 | c.1038A>C (p.Glu346Asp) c.1446A>C (p.Glu482Asp) n.2482A>C c.1443A>C (p.Glu481Asp) c.1488A>C (p.Glu496Asp) n.1823A>C c.1485A>C (p.Glu495Asp) c.1410A>C (p.Glu470Asp) c.1407A>C (p.Glu469Asp) c.1395A>C (p.Glu465Asp) | |
11 | g.22259599A>G | CA473405054 | ANO5 | c.1038A>G (p.Glu346=) c.1446A>G (p.Glu482=) n.2482A>G c.1443A>G (p.Glu481=) c.1488A>G (p.Glu496=) n.1823A>G c.1485A>G (p.Glu495=) c.1410A>G (p.Glu470=) c.1407A>G (p.Glu469=) c.1395A>G (p.Glu465=) | |
11 | g.22259599A>T | CA379922139 | ANO5 | c.1038A>T (p.Glu346Asp) c.1446A>T (p.Glu482Asp) n.2482A>T c.1443A>T (p.Glu481Asp) c.1488A>T (p.Glu496Asp) n.1823A>T c.1485A>T (p.Glu495Asp) c.1410A>T (p.Glu470Asp) c.1407A>T (p.Glu469Asp) c.1395A>T (p.Glu465Asp) | |
11 | g.22259600A>C | CA379922142 | ANO5 | c.1039A>C (p.Ser347Arg) c.1447A>C (p.Ser483Arg) n.2483A>C c.1444A>C (p.Ser482Arg) c.1489A>C (p.Ser497Arg) n.1824A>C c.1486A>C (p.Ser496Arg) c.1411A>C (p.Ser471Arg) c.1408A>C (p.Ser470Arg) c.1396A>C (p.Ser466Arg) | |
11 | g.22259600A>G | CA379922141 | ANO5 | c.1039A>G (p.Ser347Gly) c.1447A>G (p.Ser483Gly) n.2483A>G c.1444A>G (p.Ser482Gly) c.1489A>G (p.Ser497Gly) n.1824A>G c.1486A>G (p.Ser496Gly) c.1411A>G (p.Ser471Gly) c.1408A>G (p.Ser470Gly) c.1396A>G (p.Ser466Gly) | ClinVar |
11 | g.22259600A>T | CA379922140 | ANO5 | c.1039A>T (p.Ser347Cys) c.1447A>T (p.Ser483Cys) n.2483A>T c.1444A>T (p.Ser482Cys) c.1489A>T (p.Ser497Cys) n.1824A>T c.1486A>T (p.Ser496Cys) c.1411A>T (p.Ser471Cys) c.1408A>T (p.Ser470Cys) c.1396A>T (p.Ser466Cys) | |
11 | g.22259601G>A | CA379922143 | ANO5 | c.1040G>A (p.Ser347Asn) c.1448G>A (p.Ser483Asn) n.2484G>A c.1445G>A (p.Ser482Asn) c.1490G>A (p.Ser497Asn) n.1825G>A c.1487G>A (p.Ser496Asn) c.1412G>A (p.Ser471Asn) c.1409G>A (p.Ser470Asn) c.1397G>A (p.Ser466Asn) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.22259601G>C | CA379922144 | ANO5 | c.1040G>C (p.Ser347Thr) c.1448G>C (p.Ser483Thr) n.2484G>C c.1445G>C (p.Ser482Thr) c.1490G>C (p.Ser497Thr) n.1825G>C c.1487G>C (p.Ser496Thr) c.1412G>C (p.Ser471Thr) c.1409G>C (p.Ser470Thr) c.1397G>C (p.Ser466Thr) | |
11 | g.22259601G= | CA1957418741 | ANO5 | c.1040G= (p.Ser347=) c.1448G= (p.Ser483=) n.2484G= c.1445G= (p.Ser482=) c.1490G= (p.Ser497=) n.1825G= c.1487G= (p.Ser496=) c.1412G= (p.Ser471=) c.1409G= (p.Ser470=) c.1397G= (p.Ser466=) | |
11 | g.22259601G>T | CA379922145 | ANO5 | c.1040G>T (p.Ser347Ile) c.1448G>T (p.Ser483Ile) n.2484G>T c.1445G>T (p.Ser482Ile) c.1490G>T (p.Ser497Ile) n.1825G>T c.1487G>T (p.Ser496Ile) c.1412G>T (p.Ser471Ile) c.1409G>T (p.Ser470Ile) c.1397G>T (p.Ser466Ile) | |
11 | g.22259602T>A | CA379922146 | ANO5 | c.1041T>A (p.Ser347Arg) c.1449T>A (p.Ser483Arg) n.2485T>A c.1446T>A (p.Ser482Arg) c.1491T>A (p.Ser497Arg) n.1826T>A c.1488T>A (p.Ser496Arg) c.1413T>A (p.Ser471Arg) c.1410T>A (p.Ser470Arg) c.1398T>A (p.Ser466Arg) | |
11 | g.22259602T>C | CA473405055 | ANO5 | c.1041T>C (p.Ser347=) c.1449T>C (p.Ser483=) n.2485T>C c.1446T>C (p.Ser482=) c.1491T>C (p.Ser497=) n.1826T>C c.1488T>C (p.Ser496=) c.1413T>C (p.Ser471=) c.1410T>C (p.Ser470=) c.1398T>C (p.Ser466=) | |
11 | g.22259602T>G | CA379922147 | ANO5 | c.1041T>G (p.Ser347Arg) c.1449T>G (p.Ser483Arg) n.2485T>G c.1446T>G (p.Ser482Arg) c.1491T>G (p.Ser497Arg) n.1826T>G c.1488T>G (p.Ser496Arg) c.1413T>G (p.Ser471Arg) c.1410T>G (p.Ser470Arg) c.1398T>G (p.Ser466Arg) | |
11 | g.22259603G>A | CA379922148 | ANO5 | c.1042G>A (p.Asp348Asn) c.1450G>A (p.Asp484Asn) n.2486G>A c.1447G>A (p.Asp483Asn) c.1492G>A (p.Asp498Asn) n.1827G>A c.1489G>A (p.Asp497Asn) c.1414G>A (p.Asp472Asn) c.1411G>A (p.Asp471Asn) c.1399G>A (p.Asp467Asn) | ClinVar |
11 | g.22259603G>C | CA379922149 | ANO5 | c.1042G>C (p.Asp348His) c.1450G>C (p.Asp484His) n.2486G>C c.1447G>C (p.Asp483His) c.1492G>C (p.Asp498His) n.1827G>C c.1489G>C (p.Asp497His) c.1414G>C (p.Asp472His) c.1411G>C (p.Asp471His) c.1399G>C (p.Asp467His) | |
11 | g.22259603G>T | CA379922150 | ANO5 | c.1042G>T (p.Asp348Tyr) c.1450G>T (p.Asp484Tyr) n.2486G>T c.1447G>T (p.Asp483Tyr) c.1492G>T (p.Asp498Tyr) n.1827G>T c.1489G>T (p.Asp497Tyr) c.1414G>T (p.Asp472Tyr) c.1411G>T (p.Asp471Tyr) c.1399G>T (p.Asp467Tyr) | COSMIC |
11 | g.22259604A>C | CA379922151 | ANO5 | c.1043A>C (p.Asp348Ala) c.1451A>C (p.Asp484Ala) n.2487A>C c.1448A>C (p.Asp483Ala) c.1493A>C (p.Asp498Ala) n.1828A>C c.1490A>C (p.Asp497Ala) c.1415A>C (p.Asp472Ala) c.1412A>C (p.Asp471Ala) c.1400A>C (p.Asp467Ala) | |
11 | g.22259604A>G | CA379922152 | ANO5 | c.1043A>G (p.Asp348Gly) c.1451A>G (p.Asp484Gly) n.2487A>G c.1448A>G (p.Asp483Gly) c.1493A>G (p.Asp498Gly) n.1828A>G c.1490A>G (p.Asp497Gly) c.1415A>G (p.Asp472Gly) c.1412A>G (p.Asp471Gly) c.1400A>G (p.Asp467Gly) | |
11 | g.22259604A>T | CA379922153 | ANO5 | c.1043A>T (p.Asp348Val) c.1451A>T (p.Asp484Val) n.2487A>T c.1448A>T (p.Asp483Val) c.1493A>T (p.Asp498Val) n.1828A>T c.1490A>T (p.Asp497Val) c.1415A>T (p.Asp472Val) c.1412A>T (p.Asp471Val) c.1400A>T (p.Asp467Val) | gnomAD v4 |
11 | g.22259605T>A | CA379922154 | ANO5 | c.1044T>A (p.Asp348Glu) c.1452T>A (p.Asp484Glu) n.2488T>A c.1449T>A (p.Asp483Glu) c.1494T>A (p.Asp498Glu) n.1829T>A c.1491T>A (p.Asp497Glu) c.1416T>A (p.Asp472Glu) c.1413T>A (p.Asp471Glu) c.1401T>A (p.Asp467Glu) | |
11 | g.22259605T>C | CA473405056 | ANO5 | c.1044T>C (p.Asp348=) c.1452T>C (p.Asp484=) n.2488T>C c.1449T>C (p.Asp483=) c.1494T>C (p.Asp498=) n.1829T>C c.1491T>C (p.Asp497=) c.1416T>C (p.Asp472=) c.1413T>C (p.Asp471=) c.1401T>C (p.Asp467=) | |
11 | g.22259605T>G | CA379922155 | ANO5 | c.1044T>G (p.Asp348Glu) c.1452T>G (p.Asp484Glu) n.2488T>G c.1449T>G (p.Asp483Glu) c.1494T>G (p.Asp498Glu) n.1829T>G c.1491T>G (p.Asp497Glu) c.1416T>G (p.Asp472Glu) c.1413T>G (p.Asp471Glu) c.1401T>G (p.Asp467Glu) | ClinVar dbSNP |
11 | g.22259606G>A | CA10606949 | ANO5 | c.1045G>A (p.Ala349Thr) c.1453G>A (p.Ala485Thr) n.2489G>A c.1450G>A (p.Ala484Thr) c.1495G>A (p.Ala499Thr) n.1830G>A c.1492G>A (p.Ala498Thr) c.1417G>A (p.Ala473Thr) c.1414G>A (p.Ala472Thr) c.1402G>A (p.Ala468Thr) | ClinVar dbSNP gnomAD v2 |
11 | g.22259606G>C | CA5923271 | ANO5 | c.1045G>C (p.Ala349Pro) c.1453G>C (p.Ala485Pro) n.2489G>C c.1450G>C (p.Ala484Pro) c.1495G>C (p.Ala499Pro) n.1830G>C c.1492G>C (p.Ala498Pro) c.1417G>C (p.Ala473Pro) c.1414G>C (p.Ala472Pro) c.1402G>C (p.Ala468Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.22259606G= | CA1957418742 | ANO5 | c.1045G= (p.Ala349=) c.1453G= (p.Ala485=) n.2489G= c.1450G= (p.Ala484=) c.1495G= (p.Ala499=) n.1830G= c.1492G= (p.Ala498=) c.1417G= (p.Ala473=) c.1414G= (p.Ala472=) c.1402G= (p.Ala468=) | |
11 | g.22259606G>T | CA379922156 | ANO5 | c.1045G>T (p.Ala349Ser) c.1453G>T (p.Ala485Ser) n.2489G>T c.1450G>T (p.Ala484Ser) c.1495G>T (p.Ala499Ser) n.1830G>T c.1492G>T (p.Ala498Ser) c.1417G>T (p.Ala473Ser) c.1414G>T (p.Ala472Ser) c.1402G>T (p.Ala468Ser) | |
11 | g.22259607C>A | CA379922158 | ANO5 | c.1046C>A (p.Ala349Glu) c.1454C>A (p.Ala485Glu) n.2490C>A c.1451C>A (p.Ala484Glu) c.1496C>A (p.Ala499Glu) n.1831C>A c.1493C>A (p.Ala498Glu) c.1418C>A (p.Ala473Glu) c.1415C>A (p.Ala472Glu) c.1403C>A (p.Ala468Glu) | |
11 | g.22259607C>G | CA379922157 | ANO5 | c.1046C>G (p.Ala349Gly) c.1454C>G (p.Ala485Gly) n.2490C>G c.1451C>G (p.Ala484Gly) c.1496C>G (p.Ala499Gly) n.1831C>G c.1493C>G (p.Ala498Gly) c.1418C>G (p.Ala473Gly) c.1415C>G (p.Ala472Gly) c.1403C>G (p.Ala468Gly) | |
11 | g.22259607C>T | CA379922159 | ANO5 | c.1046C>T (p.Ala349Val) c.1454C>T (p.Ala485Val) n.2490C>T c.1451C>T (p.Ala484Val) c.1496C>T (p.Ala499Val) n.1831C>T c.1493C>T (p.Ala498Val) c.1418C>T (p.Ala473Val) c.1415C>T (p.Ala472Val) c.1403C>T (p.Ala468Val) | |
11 | g.22259608_22259610del | CA2612837707 | ANO5 | c.1047_1049del (p.Ser350del) c.1455_1457del (p.Ser486del) n.2491_2493del c.1452_1454del (p.Ser485del) c.1497_1499del (p.Ser500del) n.1832_1834del c.1494_1496del (p.Ser499del) c.1419_1421del (p.Ser474del) c.1416_1418del (p.Ser473del) c.1404_1406del (p.Ser469del) | gnomAD v4 |
11 | g.22259608A= | CA1957418743 | ANO5 | c.1047A= (p.Ala349=) c.1455A= (p.Ala485=) n.2491A= c.1452A= (p.Ala484=) c.1497A= (p.Ala499=) n.1832A= c.1494A= (p.Ala498=) c.1419A= (p.Ala473=) c.1416A= (p.Ala472=) c.1404A= (p.Ala468=) | |
11 | g.22259608A>C | CA473405057 | ANO5 | c.1047A>C (p.Ala349=) c.1455A>C (p.Ala485=) n.2491A>C c.1452A>C (p.Ala484=) c.1497A>C (p.Ala499=) n.1832A>C c.1494A>C (p.Ala498=) c.1419A>C (p.Ala473=) c.1416A>C (p.Ala472=) c.1404A>C (p.Ala468=) | |
11 | g.22259608A>G | CA10604874 | ANO5 | c.1047A>G (p.Ala349=) c.1455A>G (p.Ala485=) n.2491A>G c.1452A>G (p.Ala484=) c.1497A>G (p.Ala499=) n.1832A>G c.1494A>G (p.Ala498=) c.1419A>G (p.Ala473=) c.1416A>G (p.Ala472=) c.1404A>G (p.Ala468=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.22259608A>T | CA473405058 | ANO5 | c.1047A>T (p.Ala349=) c.1455A>T (p.Ala485=) n.2491A>T c.1452A>T (p.Ala484=) c.1497A>T (p.Ala499=) n.1832A>T c.1494A>T (p.Ala498=) c.1419A>T (p.Ala473=) c.1416A>T (p.Ala472=) c.1404A>T (p.Ala468=) | |
11 | g.22259609T>A | CA379922160 | ANO5 | c.1048T>A (p.Ser350Thr) c.1456T>A (p.Ser486Thr) n.2492T>A c.1453T>A (p.Ser485Thr) c.1498T>A (p.Ser500Thr) n.1833T>A c.1495T>A (p.Ser499Thr) c.1420T>A (p.Ser474Thr) c.1417T>A (p.Ser473Thr) c.1405T>A (p.Ser469Thr) | gnomAD v4 |
11 | g.22259609T>C | CA379922161 | ANO5 | c.1048T>C (p.Ser350Pro) c.1456T>C (p.Ser486Pro) n.2492T>C c.1453T>C (p.Ser485Pro) c.1498T>C (p.Ser500Pro) n.1833T>C c.1495T>C (p.Ser499Pro) c.1420T>C (p.Ser474Pro) c.1417T>C (p.Ser473Pro) c.1405T>C (p.Ser469Pro) | |
11 | g.22259609T>G | CA379922162 | ANO5 | c.1048T>G (p.Ser350Ala) c.1456T>G (p.Ser486Ala) n.2492T>G c.1453T>G (p.Ser485Ala) c.1498T>G (p.Ser500Ala) n.1833T>G c.1495T>G (p.Ser499Ala) c.1420T>G (p.Ser474Ala) c.1417T>G (p.Ser473Ala) c.1405T>G (p.Ser469Ala) | |
11 | g.22259610C>A | CA379922163 | ANO5 | c.1049C>A (p.Ser350Tyr) c.1457C>A (p.Ser486Tyr) n.2493C>A c.1454C>A (p.Ser485Tyr) c.1499C>A (p.Ser500Tyr) n.1834C>A c.1496C>A (p.Ser499Tyr) c.1421C>A (p.Ser474Tyr) c.1418C>A (p.Ser473Tyr) c.1406C>A (p.Ser469Tyr) | |
11 | g.22259610C>G | CA379922164 | ANO5 | c.1049C>G (p.Ser350Cys) c.1457C>G (p.Ser486Cys) n.2493C>G c.1454C>G (p.Ser485Cys) c.1499C>G (p.Ser500Cys) n.1834C>G c.1496C>G (p.Ser499Cys) c.1421C>G (p.Ser474Cys) c.1418C>G (p.Ser473Cys) c.1406C>G (p.Ser469Cys) | |
11 | g.22259610C>T | CA379922165 | ANO5 | c.1049C>T (p.Ser350Phe) c.1457C>T (p.Ser486Phe) n.2493C>T c.1454C>T (p.Ser485Phe) c.1499C>T (p.Ser500Phe) n.1834C>T c.1496C>T (p.Ser499Phe) c.1421C>T (p.Ser474Phe) c.1418C>T (p.Ser473Phe) c.1406C>T (p.Ser469Phe) | ClinVar |
11 | g.22259611C>A | CA473405059 | ANO5 | c.1050C>A (p.Ser350=) c.1458C>A (p.Ser486=) n.2494C>A c.1455C>A (p.Ser485=) c.1500C>A (p.Ser500=) n.1835C>A c.1497C>A (p.Ser499=) c.1422C>A (p.Ser474=) c.1419C>A (p.Ser473=) c.1407C>A (p.Ser469=) | |
11 | g.22259611C>G | CA473405060 | ANO5 | c.1050C>G (p.Ser350=) c.1458C>G (p.Ser486=) n.2494C>G c.1455C>G (p.Ser485=) c.1500C>G (p.Ser500=) n.1835C>G c.1497C>G (p.Ser499=) c.1422C>G (p.Ser474=) c.1419C>G (p.Ser473=) c.1407C>G (p.Ser469=) | gnomAD v4 |
11 | g.22259611C>T | CA473405061 | ANO5 | c.1050C>T (p.Ser350=) c.1458C>T (p.Ser486=) n.2494C>T c.1455C>T (p.Ser485=) c.1500C>T (p.Ser500=) n.1835C>T c.1497C>T (p.Ser499=) c.1422C>T (p.Ser474=) c.1419C>T (p.Ser473=) c.1407C>T (p.Ser469=) | |
11 | g.22259612T>A | CA379922166 | ANO5 | c.1051T>A (p.Leu351Ile) c.1459T>A (p.Leu487Ile) n.2495T>A c.1456T>A (p.Leu486Ile) c.1501T>A (p.Leu501Ile) n.1836T>A c.1498T>A (p.Leu500Ile) c.1423T>A (p.Leu475Ile) c.1420T>A (p.Leu474Ile) c.1408T>A (p.Leu470Ile) | |
11 | g.22259612T>C | CA473405062 | ANO5 | c.1051T>C (p.Leu351=) c.1459T>C (p.Leu487=) n.2495T>C c.1456T>C (p.Leu486=) c.1501T>C (p.Leu501=) n.1836T>C c.1498T>C (p.Leu500=) c.1423T>C (p.Leu475=) c.1420T>C (p.Leu474=) c.1408T>C (p.Leu470=) | |
11 | g.22259612T>G | CA379922167 | ANO5 | c.1051T>G (p.Leu351Val) c.1459T>G (p.Leu487Val) n.2495T>G c.1456T>G (p.Leu486Val) c.1501T>G (p.Leu501Val) n.1836T>G c.1498T>G (p.Leu500Val) c.1423T>G (p.Leu475Val) c.1420T>G (p.Leu474Val) c.1408T>G (p.Leu470Val) | |
11 | g.22259613T>A | CA379922168 | ANO5 | c.1052T>A (p.Leu351Ter) c.1460T>A (p.Leu487Ter) n.2496T>A c.1457T>A (p.Leu486Ter) c.1502T>A (p.Leu501Ter) n.1837T>A c.1499T>A (p.Leu500Ter) c.1424T>A (p.Leu475Ter) c.1421T>A (p.Leu474Ter) c.1409T>A (p.Leu470Ter) | |
11 | g.22259613T>C | CA379922169 | ANO5 | c.1052T>C (p.Leu351Ser) c.1460T>C (p.Leu487Ser) n.2496T>C c.1457T>C (p.Leu486Ser) c.1502T>C (p.Leu501Ser) n.1837T>C c.1499T>C (p.Leu500Ser) c.1424T>C (p.Leu475Ser) c.1421T>C (p.Leu474Ser) c.1409T>C (p.Leu470Ser) | |
11 | g.22259613T>G | CA379922170 | ANO5 | c.1052T>G (p.Leu351Ter) c.1460T>G (p.Leu487Ter) n.2496T>G c.1457T>G (p.Leu486Ter) c.1502T>G (p.Leu501Ter) n.1837T>G c.1499T>G (p.Leu500Ter) c.1424T>G (p.Leu475Ter) c.1421T>G (p.Leu474Ter) c.1409T>G (p.Leu470Ter) | |
11 | g.22259614A= | CA1957418744 | ANO5 | c.1053A= (p.Leu351=) c.1461A= (p.Leu487=) n.2497A= c.1458A= (p.Leu486=) c.1503A= (p.Leu501=) n.1838A= c.1500A= (p.Leu500=) c.1425A= (p.Leu475=) c.1422A= (p.Leu474=) c.1410A= (p.Leu470=) | |
11 | g.22259614A>C | CA379922172 | ANO5 | c.1053A>C (p.Leu351Phe) c.1461A>C (p.Leu487Phe) n.2497A>C c.1458A>C (p.Leu486Phe) c.1503A>C (p.Leu501Phe) n.1838A>C c.1500A>C (p.Leu500Phe) c.1425A>C (p.Leu475Phe) c.1422A>C (p.Leu474Phe) c.1410A>C (p.Leu470Phe) | |
11 | g.22259614A>G | CA5923272 | ANO5 | c.1053A>G (p.Leu351=) c.1461A>G (p.Leu487=) n.2497A>G c.1458A>G (p.Leu486=) c.1503A>G (p.Leu501=) n.1838A>G c.1500A>G (p.Leu500=) c.1425A>G (p.Leu475=) c.1422A>G (p.Leu474=) c.1410A>G (p.Leu470=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.22259614A>T | CA379922171 | ANO5 | c.1053A>T (p.Leu351Phe) c.1461A>T (p.Leu487Phe) n.2497A>T c.1458A>T (p.Leu486Phe) c.1503A>T (p.Leu501Phe) n.1838A>T c.1500A>T (p.Leu500Phe) c.1425A>T (p.Leu475Phe) c.1422A>T (p.Leu474Phe) c.1410A>T (p.Leu470Phe) | |
11 | g.22259615A>C | CA379922173 | ANO5 | c.1054A>C (p.Lys352Gln) c.1462A>C (p.Lys488Gln) n.2498A>C c.1459A>C (p.Lys487Gln) c.1504A>C (p.Lys502Gln) n.1839A>C c.1501A>C (p.Lys501Gln) c.1426A>C (p.Lys476Gln) c.1423A>C (p.Lys475Gln) c.1411A>C (p.Lys471Gln) | |
11 | g.22259615A>G | CA379922174 | ANO5 | c.1054A>G (p.Lys352Glu) c.1462A>G (p.Lys488Glu) n.2498A>G c.1459A>G (p.Lys487Glu) c.1504A>G (p.Lys502Glu) n.1839A>G c.1501A>G (p.Lys501Glu) c.1426A>G (p.Lys476Glu) c.1423A>G (p.Lys475Glu) c.1411A>G (p.Lys471Glu) | |
11 | g.22259615A>T | CA379922175 | ANO5 | c.1054A>T (p.Lys352Ter) c.1462A>T (p.Lys488Ter) n.2498A>T c.1459A>T (p.Lys487Ter) c.1504A>T (p.Lys502Ter) n.1839A>T c.1501A>T (p.Lys501Ter) c.1426A>T (p.Lys476Ter) c.1423A>T (p.Lys475Ter) c.1411A>T (p.Lys471Ter) | |
11 | g.22259616A>C | CA379922176 | ANO5 | c.1055A>C (p.Lys352Thr) c.1463A>C (p.Lys488Thr) n.2499A>C c.1460A>C (p.Lys487Thr) c.1505A>C (p.Lys502Thr) n.1840A>C c.1502A>C (p.Lys501Thr) c.1427A>C (p.Lys476Thr) c.1424A>C (p.Lys475Thr) c.1412A>C (p.Lys471Thr) | |
11 | g.22259616A>G | CA379922177 | ANO5 | c.1055A>G (p.Lys352Arg) c.1463A>G (p.Lys488Arg) n.2499A>G c.1460A>G (p.Lys487Arg) c.1505A>G (p.Lys502Arg) n.1840A>G c.1502A>G (p.Lys501Arg) c.1427A>G (p.Lys476Arg) c.1424A>G (p.Lys475Arg) c.1412A>G (p.Lys471Arg) | |
11 | g.22259616A>T | CA379922178 | ANO5 | c.1055A>T (p.Lys352Met) c.1463A>T (p.Lys488Met) n.2499A>T c.1460A>T (p.Lys487Met) c.1505A>T (p.Lys502Met) n.1840A>T c.1502A>T (p.Lys501Met) c.1427A>T (p.Lys476Met) c.1424A>T (p.Lys475Met) c.1412A>T (p.Lys471Met) | |
11 | g.22259617G>A | CA473405063 | ANO5 | c.1056G>A (p.Lys352=) c.1464G>A (p.Lys488=) n.2500G>A c.1461G>A (p.Lys487=) c.1506G>A (p.Lys502=) n.1841G>A c.1503G>A (p.Lys501=) c.1428G>A (p.Lys476=) c.1425G>A (p.Lys475=) c.1413G>A (p.Lys471=) | |
11 | g.22259617G>C | CA379922179 | ANO5 | c.1056G>C (p.Lys352Asn) c.1464G>C (p.Lys488Asn) n.2500G>C c.1461G>C (p.Lys487Asn) c.1506G>C (p.Lys502Asn) n.1841G>C c.1503G>C (p.Lys501Asn) c.1428G>C (p.Lys476Asn) c.1425G>C (p.Lys475Asn) c.1413G>C (p.Lys471Asn) | |
11 | g.22259617G>T | CA379922180 | ANO5 | c.1056G>T (p.Lys352Asn) c.1464G>T (p.Lys488Asn) n.2500G>T c.1461G>T (p.Lys487Asn) c.1506G>T (p.Lys502Asn) n.1841G>T c.1503G>T (p.Lys501Asn) c.1428G>T (p.Lys476Asn) c.1425G>T (p.Lys475Asn) c.1413G>T (p.Lys471Asn) | |
11 | g.22259618C>A | CA379922181 | ANO5 | c.1057C>A (p.Gln353Lys) c.1465C>A (p.Gln489Lys) n.2501C>A c.1462C>A (p.Gln488Lys) c.1507C>A (p.Gln503Lys) n.1842C>A c.1504C>A (p.Gln502Lys) c.1429C>A (p.Gln477Lys) c.1426C>A (p.Gln476Lys) c.1414C>A (p.Gln472Lys) | |
11 | g.22259618C>G | CA379922182 | ANO5 | c.1057C>G (p.Gln353Glu) c.1465C>G (p.Gln489Glu) n.2501C>G c.1462C>G (p.Gln488Glu) c.1507C>G (p.Gln503Glu) n.1842C>G c.1504C>G (p.Gln502Glu) c.1429C>G (p.Gln477Glu) c.1426C>G (p.Gln476Glu) c.1414C>G (p.Gln472Glu) | |
11 | g.22259618C>T | CA379922183 | ANO5 | c.1057C>T (p.Gln353Ter) c.1465C>T (p.Gln489Ter) n.2501C>T c.1462C>T (p.Gln488Ter) c.1507C>T (p.Gln503Ter) n.1842C>T c.1504C>T (p.Gln502Ter) c.1429C>T (p.Gln477Ter) c.1426C>T (p.Gln476Ter) c.1414C>T (p.Gln472Ter) | |
11 | g.22259619A>C | CA379922185 | ANO5 | c.1058A>C (p.Gln353Pro) c.1466A>C (p.Gln489Pro) n.2502A>C c.1463A>C (p.Gln488Pro) c.1508A>C (p.Gln503Pro) n.1843A>C c.1505A>C (p.Gln502Pro) c.1430A>C (p.Gln477Pro) c.1427A>C (p.Gln476Pro) c.1415A>C (p.Gln472Pro) | |
11 | g.22259619A>G | CA379922186 | ANO5 | c.1058A>G (p.Gln353Arg) c.1466A>G (p.Gln489Arg) n.2502A>G c.1463A>G (p.Gln488Arg) c.1508A>G (p.Gln503Arg) n.1843A>G c.1505A>G (p.Gln502Arg) c.1430A>G (p.Gln477Arg) c.1427A>G (p.Gln476Arg) c.1415A>G (p.Gln472Arg) | |
11 | g.22259619A>T | CA379922184 | ANO5 | c.1058A>T (p.Gln353Leu) c.1466A>T (p.Gln489Leu) n.2502A>T c.1463A>T (p.Gln488Leu) c.1508A>T (p.Gln503Leu) n.1843A>T c.1505A>T (p.Gln502Leu) c.1430A>T (p.Gln477Leu) c.1427A>T (p.Gln476Leu) c.1415A>T (p.Gln472Leu) | |
11 | g.22259620G>A | CA5923273 | ANO5 | c.1059G>A (p.Gln353=) c.1467G>A (p.Gln489=) n.2503G>A c.1464G>A (p.Gln488=) c.1509G>A (p.Gln503=) n.1844G>A c.1506G>A (p.Gln502=) c.1431G>A (p.Gln477=) c.1428G>A (p.Gln476=) c.1416G>A (p.Gln472=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22259620G>C | CA379922187 | ANO5 | c.1059G>C (p.Gln353His) c.1467G>C (p.Gln489His) n.2503G>C c.1464G>C (p.Gln488His) c.1509G>C (p.Gln503His) n.1844G>C c.1506G>C (p.Gln502His) c.1431G>C (p.Gln477His) c.1428G>C (p.Gln476His) c.1416G>C (p.Gln472His) | |
11 | g.22259620G= | CA1957418745 | ANO5 | c.1059G= (p.Gln353=) c.1467G= (p.Gln489=) n.2503G= c.1464G= (p.Gln488=) c.1509G= (p.Gln503=) n.1844G= c.1506G= (p.Gln502=) c.1431G= (p.Gln477=) c.1428G= (p.Gln476=) c.1416G= (p.Gln472=) | |
11 | g.22259620G>T | CA379922188 | ANO5 | c.1059G>T (p.Gln353His) c.1467G>T (p.Gln489His) n.2503G>T c.1464G>T (p.Gln488His) c.1509G>T (p.Gln503His) n.1844G>T c.1506G>T (p.Gln502His) c.1431G>T (p.Gln477His) c.1428G>T (p.Gln476His) c.1416G>T (p.Gln472His) | |
11 | g.22259621G>A | CA379922189 | ANO5 | c.1060G>A (p.Val354Ile) c.1468G>A (p.Val490Ile) n.2504G>A c.1465G>A (p.Val489Ile) c.1510G>A (p.Val504Ile) n.1845G>A c.1507G>A (p.Val503Ile) c.1432G>A (p.Val478Ile) c.1429G>A (p.Val477Ile) c.1417G>A (p.Val473Ile) | dbSNP gnomAD v3 |
11 | g.22259621G>C | CA379922190 | ANO5 | c.1060G>C (p.Val354Leu) c.1468G>C (p.Val490Leu) n.2504G>C c.1465G>C (p.Val489Leu) c.1510G>C (p.Val504Leu) n.1845G>C c.1507G>C (p.Val503Leu) c.1432G>C (p.Val478Leu) c.1429G>C (p.Val477Leu) c.1417G>C (p.Val473Leu) | |
11 | g.22259621G= | CA1957418746 | ANO5 | c.1060G= (p.Val354=) c.1468G= (p.Val490=) n.2504G= c.1465G= (p.Val489=) c.1510G= (p.Val504=) n.1845G= c.1507G= (p.Val503=) c.1432G= (p.Val478=) c.1429G= (p.Val477=) c.1417G= (p.Val473=) | |
11 | g.22259621G>T | CA218765660 | ANO5 | c.1060G>T (p.Val354Phe) c.1468G>T (p.Val490Phe) n.2504G>T c.1465G>T (p.Val489Phe) c.1510G>T (p.Val504Phe) n.1845G>T c.1507G>T (p.Val503Phe) c.1432G>T (p.Val478Phe) c.1429G>T (p.Val477Phe) c.1417G>T (p.Val473Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22259622T>A | CA379922191 | ANO5 | c.1061T>A (p.Val354Asp) c.1469T>A (p.Val490Asp) n.2505T>A c.1466T>A (p.Val489Asp) c.1511T>A (p.Val504Asp) n.1846T>A c.1508T>A (p.Val503Asp) c.1433T>A (p.Val478Asp) c.1430T>A (p.Val477Asp) c.1418T>A (p.Val473Asp) | |
11 | g.22259622T>C | CA379922192 | ANO5 | c.1061T>C (p.Val354Ala) c.1469T>C (p.Val490Ala) n.2505T>C c.1466T>C (p.Val489Ala) c.1511T>C (p.Val504Ala) n.1846T>C c.1508T>C (p.Val503Ala) c.1433T>C (p.Val478Ala) c.1430T>C (p.Val477Ala) c.1418T>C (p.Val473Ala) | |
11 | g.22259622T>G | CA379922193 | ANO5 | c.1061T>G (p.Val354Gly) c.1469T>G (p.Val490Gly) n.2505T>G c.1466T>G (p.Val489Gly) c.1511T>G (p.Val504Gly) n.1846T>G c.1508T>G (p.Val503Gly) c.1433T>G (p.Val478Gly) c.1430T>G (p.Val477Gly) c.1418T>G (p.Val473Gly) | |
11 | g.22259623C>A | CA473405064 | ANO5 | c.1062C>A (p.Val354=) c.1470C>A (p.Val490=) n.2506C>A c.1467C>A (p.Val489=) c.1512C>A (p.Val504=) n.1847C>A c.1509C>A (p.Val503=) c.1434C>A (p.Val478=) c.1431C>A (p.Val477=) c.1419C>A (p.Val473=) | gnomAD v4 |
11 | g.22259623C>G | CA473405065 | ANO5 | c.1062C>G (p.Val354=) c.1470C>G (p.Val490=) n.2506C>G c.1467C>G (p.Val489=) c.1512C>G (p.Val504=) n.1847C>G c.1509C>G (p.Val503=) c.1434C>G (p.Val478=) c.1431C>G (p.Val477=) c.1419C>G (p.Val473=) | COSMIC |
11 | g.22259623C>T | CA473405066 | ANO5 | c.1062C>T (p.Val354=) c.1470C>T (p.Val490=) n.2506C>T c.1467C>T (p.Val489=) c.1512C>T (p.Val504=) n.1847C>T c.1509C>T (p.Val503=) c.1434C>T (p.Val478=) c.1431C>T (p.Val477=) c.1419C>T (p.Val473=) | |
11 | g.22259623_22259624delinsCA | CA1957418747 | ANO5 | c.1062_1063delinsCA (p.Val354=) c.1470_1471delinsCA (p.Val490=) n.2506_2507delinsCA c.1467_1468delinsCA (p.Val489=) c.1512_1513delinsCA (p.Val504=) n.1847_1848delinsCA c.1509_1510delinsCA (p.Val503=) c.1434_1435delinsCA (p.Val478=) c.1431_1432delinsCA (p.Val477=) c.1419_1420delinsCA (p.Val473=) | |
11 | g.22259624A= | CA1957418748 | ANO5 | c.1063A= (p.Lys355=) c.1471A= (p.Lys491=) n.2507A= c.1468A= (p.Lys490=) c.1513A= (p.Lys505=) n.1848A= c.1510A= (p.Lys504=) c.1435A= (p.Lys479=) c.1432A= (p.Lys478=) c.1420A= (p.Lys474=) | |
11 | g.22259624A>C | CA379922194 | ANO5 | c.1063A>C (p.Lys355Gln) c.1471A>C (p.Lys491Gln) n.2507A>C c.1468A>C (p.Lys490Gln) c.1513A>C (p.Lys505Gln) n.1848A>C c.1510A>C (p.Lys504Gln) c.1435A>C (p.Lys479Gln) c.1432A>C (p.Lys478Gln) c.1420A>C (p.Lys474Gln) | dbSNP |
11 | g.22259624A>G | CA379922195 | ANO5 | c.1063A>G (p.Lys355Glu) c.1471A>G (p.Lys491Glu) n.2507A>G c.1468A>G (p.Lys490Glu) c.1513A>G (p.Lys505Glu) n.1848A>G c.1510A>G (p.Lys504Glu) c.1435A>G (p.Lys479Glu) c.1432A>G (p.Lys478Glu) c.1420A>G (p.Lys474Glu) | |
11 | g.22259624A>T | CA379922196 | ANO5 | c.1063A>T (p.Lys355Ter) c.1471A>T (p.Lys491Ter) n.2507A>T c.1468A>T (p.Lys490Ter) c.1513A>T (p.Lys505Ter) n.1848A>T c.1510A>T (p.Lys504Ter) c.1435A>T (p.Lys479Ter) c.1432A>T (p.Lys478Ter) c.1420A>T (p.Lys474Ter) | |
11 | g.22259627del | CA598389450 | ANO5 | c.1066del (p.Ser356AlafsTer7) c.1474del (p.Ser492AlafsTer7) n.2510del c.1471del (p.Ser491AlafsTer7) c.1516del (p.Ser506AlafsTer7) n.1851del c.1513del (p.Ser505AlafsTer7) c.1438del (p.Ser480AlafsTer7) c.1435del (p.Ser479AlafsTer7) c.1423del (p.Ser475AlafsTer7) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22259625A= | CA1957418749 | ANO5 | c.1064A= (p.Lys355=) c.1472A= (p.Lys491=) n.2508A= c.1469A= (p.Lys490=) c.1514A= (p.Lys505=) n.1849A= c.1511A= (p.Lys504=) c.1436A= (p.Lys479=) c.1433A= (p.Lys478=) c.1421A= (p.Lys474=) | |
11 | g.22259625A>C | CA379922198 | ANO5 | c.1064A>C (p.Lys355Thr) c.1472A>C (p.Lys491Thr) n.2508A>C c.1469A>C (p.Lys490Thr) c.1514A>C (p.Lys505Thr) n.1849A>C c.1511A>C (p.Lys504Thr) c.1436A>C (p.Lys479Thr) c.1433A>C (p.Lys478Thr) c.1421A>C (p.Lys474Thr) | |
11 | g.22259625A>G | CA5923274 | ANO5 | c.1064A>G (p.Lys355Arg) c.1472A>G (p.Lys491Arg) n.2508A>G c.1469A>G (p.Lys490Arg) c.1514A>G (p.Lys505Arg) n.1849A>G c.1511A>G (p.Lys504Arg) c.1436A>G (p.Lys479Arg) c.1433A>G (p.Lys478Arg) c.1421A>G (p.Lys474Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.22259625A>T | CA379922197 | ANO5 | c.1064A>T (p.Lys355Ile) c.1472A>T (p.Lys491Ile) n.2508A>T c.1469A>T (p.Lys490Ile) c.1514A>T (p.Lys505Ile) n.1849A>T c.1511A>T (p.Lys504Ile) c.1436A>T (p.Lys479Ile) c.1433A>T (p.Lys478Ile) c.1421A>T (p.Lys474Ile) | |
11 | g.22259626A>C | CA379922199 | ANO5 | c.1065A>C (p.Lys355Asn) c.1473A>C (p.Lys491Asn) n.2509A>C c.1470A>C (p.Lys490Asn) c.1515A>C (p.Lys505Asn) n.1850A>C c.1512A>C (p.Lys504Asn) c.1437A>C (p.Lys479Asn) c.1434A>C (p.Lys478Asn) c.1422A>C (p.Lys474Asn) | |
11 | g.22259626A>G | CA473405067 | ANO5 | c.1065A>G (p.Lys355=) c.1473A>G (p.Lys491=) n.2509A>G c.1470A>G (p.Lys490=) c.1515A>G (p.Lys505=) n.1850A>G c.1512A>G (p.Lys504=) c.1437A>G (p.Lys479=) c.1434A>G (p.Lys478=) c.1422A>G (p.Lys474=) | |
11 | g.22259626A>T | CA379922200 | ANO5 | c.1065A>T (p.Lys355Asn) c.1473A>T (p.Lys491Asn) n.2509A>T c.1470A>T (p.Lys490Asn) c.1515A>T (p.Lys505Asn) n.1850A>T c.1512A>T (p.Lys504Asn) c.1437A>T (p.Lys479Asn) c.1434A>T (p.Lys478Asn) c.1422A>T (p.Lys474Asn) | |
11 | g.22259627A= | CA1957418751 | ANO5 | c.1066A= (p.Ser356=) c.1474A= (p.Ser492=) n.2510A= c.1471A= (p.Ser491=) c.1516A= (p.Ser506=) n.1851A= c.1513A= (p.Ser505=) c.1438A= (p.Ser480=) c.1435A= (p.Ser479=) c.1423A= (p.Ser475=) | |
11 | g.22259627A>C | CA379922201 | ANO5 | c.1066A>C (p.Ser356Arg) c.1474A>C (p.Ser492Arg) n.2510A>C c.1471A>C (p.Ser491Arg) c.1516A>C (p.Ser506Arg) n.1851A>C c.1513A>C (p.Ser505Arg) c.1438A>C (p.Ser480Arg) c.1435A>C (p.Ser479Arg) c.1423A>C (p.Ser475Arg) | |
11 | g.22259627A>G | CA5923275 | ANO5 | c.1066A>G (p.Ser356Gly) c.1474A>G (p.Ser492Gly) n.2510A>G c.1471A>G (p.Ser491Gly) c.1516A>G (p.Ser506Gly) n.1851A>G c.1513A>G (p.Ser505Gly) c.1438A>G (p.Ser480Gly) c.1435A>G (p.Ser479Gly) c.1423A>G (p.Ser475Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.22259627A>T | CA379922202 | ANO5 | c.1066A>T (p.Ser356Cys) c.1474A>T (p.Ser492Cys) n.2510A>T c.1471A>T (p.Ser491Cys) c.1516A>T (p.Ser506Cys) n.1851A>T c.1513A>T (p.Ser505Cys) c.1438A>T (p.Ser480Cys) c.1435A>T (p.Ser479Cys) c.1423A>T (p.Ser475Cys) | |
11 | g.22259627_22259628delinsAG | CA1957418750 | ANO5 | c.1066_1067delinsAG (p.Ser356=) c.1474_1475delinsAG (p.Ser492=) n.2510_2511delinsAG c.1471_1472delinsAG (p.Ser491=) c.1516_1517delinsAG (p.Ser506=) n.1851_1852delinsAG c.1513_1514delinsAG (p.Ser505=) c.1438_1439delinsAG (p.Ser480=) c.1435_1436delinsAG (p.Ser479=) c.1423_1424delinsAG (p.Ser475=) | |
11 | g.22259628del | CA1139661865 | ANO5 | c.1067del (p.Ser356ThrfsTer7) c.1475del (p.Ser492ThrfsTer7) n.2511del c.1472del (p.Ser491ThrfsTer7) c.1517del (p.Ser506ThrfsTer7) n.1852del c.1514del (p.Ser505ThrfsTer7) c.1439del (p.Ser480ThrfsTer7) c.1436del (p.Ser479ThrfsTer7) c.1424del (p.Ser475ThrfsTer7) | ClinVar dbSNP |
11 | g.22259628G>A | CA379922205 | ANO5 | c.1067G>A (p.Ser356Asn) c.1475G>A (p.Ser492Asn) n.2511G>A c.1472G>A (p.Ser491Asn) c.1517G>A (p.Ser506Asn) n.1852G>A c.1514G>A (p.Ser505Asn) c.1439G>A (p.Ser480Asn) c.1436G>A (p.Ser479Asn) c.1424G>A (p.Ser475Asn) | gnomAD v4 |
11 | g.22259628G>C | CA379922203 | ANO5 | c.1067G>C (p.Ser356Thr) c.1475G>C (p.Ser492Thr) n.2511G>C c.1472G>C (p.Ser491Thr) c.1517G>C (p.Ser506Thr) n.1852G>C c.1514G>C (p.Ser505Thr) c.1439G>C (p.Ser480Thr) c.1436G>C (p.Ser479Thr) c.1424G>C (p.Ser475Thr) | |
11 | g.22259628G>T | CA379922204 | ANO5 | c.1067G>T (p.Ser356Ile) c.1475G>T (p.Ser492Ile) n.2511G>T c.1472G>T (p.Ser491Ile) c.1517G>T (p.Ser506Ile) n.1852G>T c.1514G>T (p.Ser505Ile) c.1439G>T (p.Ser480Ile) c.1436G>T (p.Ser479Ile) c.1424G>T (p.Ser475Ile) | gnomAD v4 COSMIC |
11 | g.22259629C>A | CA379922206 | ANO5 | c.1068C>A (p.Ser356Arg) c.1476C>A (p.Ser492Arg) n.2512C>A c.1473C>A (p.Ser491Arg) c.1518C>A (p.Ser506Arg) n.1853C>A c.1515C>A (p.Ser505Arg) c.1440C>A (p.Ser480Arg) c.1437C>A (p.Ser479Arg) c.1425C>A (p.Ser475Arg) | |
11 | g.22259629C= | CA1957418753 | ANO5 | c.1068C= (p.Ser356=) c.1476C= (p.Ser492=) n.2512C= c.1473C= (p.Ser491=) c.1518C= (p.Ser506=) n.1853C= c.1515C= (p.Ser505=) c.1440C= (p.Ser480=) c.1437C= (p.Ser479=) c.1425C= (p.Ser475=) | |
11 | g.22259629C>G | CA379922207 | ANO5 | c.1068C>G (p.Ser356Arg) c.1476C>G (p.Ser492Arg) n.2512C>G c.1473C>G (p.Ser491Arg) c.1518C>G (p.Ser506Arg) n.1853C>G c.1515C>G (p.Ser505Arg) c.1440C>G (p.Ser480Arg) c.1437C>G (p.Ser479Arg) c.1425C>G (p.Ser475Arg) | dbSNP |
11 | g.22259629C>T | CA473405068 | ANO5 | c.1068C>T (p.Ser356=) c.1476C>T (p.Ser492=) n.2512C>T c.1473C>T (p.Ser491=) c.1518C>T (p.Ser506=) n.1853C>T c.1515C>T (p.Ser505=) c.1440C>T (p.Ser480=) c.1437C>T (p.Ser479=) c.1425C>T (p.Ser475=) | gnomAD v4 |
11 | g.22259629_22259630delinsCT | CA1957418752 | ANO5 | c.1068_1069delinsCT (p.Ser356=) c.1476_1477delinsCT (p.Ser492=) n.2512_2513delinsCT c.1473_1474delinsCT (p.Ser491=) c.1518_1519delinsCT (p.Ser506=) n.1853_1854delinsCT c.1515_1516delinsCT (p.Ser505=) c.1440_1441delinsCT (p.Ser480=) c.1437_1438delinsCT (p.Ser479=) c.1425_1426delinsCT (p.Ser475=) | |
11 | g.22259630T>A | CA379922208 | ANO5 | c.1069T>A (p.Phe357Ile) c.1477T>A (p.Phe493Ile) n.2513T>A c.1474T>A (p.Phe492Ile) c.1519T>A (p.Phe507Ile) n.1854T>A c.1516T>A (p.Phe506Ile) c.1441T>A (p.Phe481Ile) c.1438T>A (p.Phe480Ile) c.1426T>A (p.Phe476Ile) | |
11 | g.22259630T>C | CA379922209 | ANO5 | c.1069T>C (p.Phe357Leu) c.1477T>C (p.Phe493Leu) n.2513T>C c.1474T>C (p.Phe492Leu) c.1519T>C (p.Phe507Leu) n.1854T>C c.1516T>C (p.Phe506Leu) c.1441T>C (p.Phe481Leu) c.1438T>C (p.Phe480Leu) c.1426T>C (p.Phe476Leu) | gnomAD v4 |
11 | g.22259630T>G | CA379922210 | ANO5 | c.1069T>G (p.Phe357Val) c.1477T>G (p.Phe493Val) n.2513T>G c.1474T>G (p.Phe492Val) c.1519T>G (p.Phe507Val) n.1854T>G c.1516T>G (p.Phe506Val) c.1441T>G (p.Phe481Val) c.1438T>G (p.Phe480Val) c.1426T>G (p.Phe476Val) | |
11 | g.22259631del | CA201242 | ANO5 | c.1070del (p.Phe357SerfsTer6) c.1478del (p.Phe493SerfsTer6) n.2514del c.1475del (p.Phe492SerfsTer6) c.1520del (p.Phe507SerfsTer6) n.1855del c.1517del (p.Phe506SerfsTer6) c.1442del (p.Phe481SerfsTer6) c.1439del (p.Phe480SerfsTer6) c.1427del (p.Phe476SerfsTer6) | ClinVar dbSNP gnomAD v4 |
11 | g.22259631T>A | CA379922212 | ANO5 | c.1070T>A (p.Phe357Tyr) c.1478T>A (p.Phe493Tyr) n.2514T>A c.1475T>A (p.Phe492Tyr) c.1520T>A (p.Phe507Tyr) n.1855T>A c.1517T>A (p.Phe506Tyr) c.1442T>A (p.Phe481Tyr) c.1439T>A (p.Phe480Tyr) c.1427T>A (p.Phe476Tyr) | |
11 | g.22259631T>C | CA379922211 | ANO5 | c.1070T>C (p.Phe357Ser) c.1478T>C (p.Phe493Ser) n.2514T>C c.1475T>C (p.Phe492Ser) c.1520T>C (p.Phe507Ser) n.1855T>C c.1517T>C (p.Phe506Ser) c.1442T>C (p.Phe481Ser) c.1439T>C (p.Phe480Ser) c.1427T>C (p.Phe476Ser) | COSMIC |
11 | g.22259631T>G | CA379922213 | ANO5 | c.1070T>G (p.Phe357Cys) c.1478T>G (p.Phe493Cys) n.2514T>G c.1475T>G (p.Phe492Cys) c.1520T>G (p.Phe507Cys) n.1855T>G c.1517T>G (p.Phe506Cys) c.1442T>G (p.Phe481Cys) c.1439T>G (p.Phe480Cys) c.1427T>G (p.Phe476Cys) | gnomAD v4 |
11 | g.22259632C>A | CA379922215 | ANO5 | c.1071C>A (p.Phe357Leu) c.1479C>A (p.Phe493Leu) n.2515C>A c.1476C>A (p.Phe492Leu) c.1521C>A (p.Phe507Leu) n.1856C>A c.1518C>A (p.Phe506Leu) c.1443C>A (p.Phe481Leu) c.1440C>A (p.Phe480Leu) c.1428C>A (p.Phe476Leu) | |
11 | g.22259632C>G | CA379922214 | ANO5 | c.1071C>G (p.Phe357Leu) c.1479C>G (p.Phe493Leu) n.2515C>G c.1476C>G (p.Phe492Leu) c.1521C>G (p.Phe507Leu) n.1856C>G c.1518C>G (p.Phe506Leu) c.1443C>G (p.Phe481Leu) c.1440C>G (p.Phe480Leu) c.1428C>G (p.Phe476Leu) | |
11 | g.22259632C>T | CA473405069 | ANO5 | c.1071C>T (p.Phe357=) c.1479C>T (p.Phe493=) n.2515C>T c.1476C>T (p.Phe492=) c.1521C>T (p.Phe507=) n.1856C>T c.1518C>T (p.Phe506=) c.1443C>T (p.Phe481=) c.1440C>T (p.Phe480=) c.1428C>T (p.Phe476=) | ClinVar dbSNP gnomAD v4 |
11 | g.22259633C>A | CA379922216 | ANO5 | c.1072C>A (p.Leu358Ile) c.1480C>A (p.Leu494Ile) n.2516C>A c.1477C>A (p.Leu493Ile) c.1522C>A (p.Leu508Ile) n.1857C>A c.1519C>A (p.Leu507Ile) c.1444C>A (p.Leu482Ile) c.1441C>A (p.Leu481Ile) c.1429C>A (p.Leu477Ile) | |
11 | g.22259633C>G | CA379922217 | ANO5 | c.1072C>G (p.Leu358Val) c.1480C>G (p.Leu494Val) n.2516C>G c.1477C>G (p.Leu493Val) c.1522C>G (p.Leu508Val) n.1857C>G c.1519C>G (p.Leu507Val) c.1444C>G (p.Leu482Val) c.1441C>G (p.Leu481Val) c.1429C>G (p.Leu477Val) | gnomAD v4 |
11 | g.22259633C>T | CA379922218 | ANO5 | c.1072C>T (p.Leu358Phe) c.1480C>T (p.Leu494Phe) n.2516C>T c.1477C>T (p.Leu493Phe) c.1522C>T (p.Leu508Phe) n.1857C>T c.1519C>T (p.Leu507Phe) c.1444C>T (p.Leu482Phe) c.1441C>T (p.Leu481Phe) c.1429C>T (p.Leu477Phe) | |
11 | g.22259634T>A | CA379922219 | ANO5 | c.1073T>A (p.Leu358His) c.1481T>A (p.Leu494His) n.2517T>A c.1478T>A (p.Leu493His) c.1523T>A (p.Leu508His) n.1858T>A c.1520T>A (p.Leu507His) c.1445T>A (p.Leu482His) c.1442T>A (p.Leu481His) c.1430T>A (p.Leu477His) | |
11 | g.22259634T>C | CA379922220 | ANO5 | c.1073T>C (p.Leu358Pro) c.1481T>C (p.Leu494Pro) n.2517T>C c.1478T>C (p.Leu493Pro) c.1523T>C (p.Leu508Pro) n.1858T>C c.1520T>C (p.Leu507Pro) c.1445T>C (p.Leu482Pro) c.1442T>C (p.Leu481Pro) c.1430T>C (p.Leu477Pro) | |
11 | g.22259634T>G | CA379922221 | ANO5 | c.1073T>G (p.Leu358Arg) c.1481T>G (p.Leu494Arg) n.2517T>G c.1478T>G (p.Leu493Arg) c.1523T>G (p.Leu508Arg) n.1858T>G c.1520T>G (p.Leu507Arg) c.1445T>G (p.Leu482Arg) c.1442T>G (p.Leu481Arg) c.1430T>G (p.Leu477Arg) | |
11 | g.22259635dup | CA2612837721 | ANO5 | c.1074dup (p.Thr359TyrfsTer26) c.1482dup (p.Thr495TyrfsTer26) n.2518dup c.1479dup (p.Thr494TyrfsTer26) c.1524dup (p.Thr509TyrfsTer26) n.1859dup c.1521dup (p.Thr508TyrfsTer26) c.1446dup (p.Thr483TyrfsTer26) c.1443dup (p.Thr482TyrfsTer26) c.1431dup (p.Thr478TyrfsTer26) | gnomAD v4 |
11 | g.22259635T>A | CA473405070 | ANO5 | c.1074T>A (p.Leu358=) c.1482T>A (p.Leu494=) n.2518T>A c.1479T>A (p.Leu493=) c.1524T>A (p.Leu508=) n.1859T>A c.1521T>A (p.Leu507=) c.1446T>A (p.Leu482=) c.1443T>A (p.Leu481=) c.1431T>A (p.Leu477=) | |
11 | g.22259635T>C | CA473405071 | ANO5 | c.1074T>C (p.Leu358=) c.1482T>C (p.Leu494=) n.2518T>C c.1479T>C (p.Leu493=) c.1524T>C (p.Leu508=) n.1859T>C c.1521T>C (p.Leu507=) c.1446T>C (p.Leu482=) c.1443T>C (p.Leu481=) c.1431T>C (p.Leu477=) | |
11 | g.22259635T>G | CA473405072 | ANO5 | c.1074T>G (p.Leu358=) c.1482T>G (p.Leu494=) n.2518T>G c.1479T>G (p.Leu493=) c.1524T>G (p.Leu508=) n.1859T>G c.1521T>G (p.Leu507=) c.1446T>G (p.Leu482=) c.1443T>G (p.Leu481=) c.1431T>G (p.Leu477=) | |
11 | g.22259636A= | CA1957418754 | ANO5 | c.1075A= (p.Thr359=) c.1483A= (p.Thr495=) n.2519A= c.1480A= (p.Thr494=) c.1525A= (p.Thr509=) n.1860A= c.1522A= (p.Thr508=) c.1447A= (p.Thr483=) c.1444A= (p.Thr482=) c.1432A= (p.Thr478=) | |
11 | g.22259636A>C | CA379922222 | ANO5 | c.1075A>C (p.Thr359Pro) c.1483A>C (p.Thr495Pro) n.2519A>C c.1480A>C (p.Thr494Pro) c.1525A>C (p.Thr509Pro) n.1860A>C c.1522A>C (p.Thr508Pro) c.1447A>C (p.Thr483Pro) c.1444A>C (p.Thr482Pro) c.1432A>C (p.Thr478Pro) | |
11 | g.22259636A>G | CA379922223 | ANO5 | c.1075A>G (p.Thr359Ala) c.1483A>G (p.Thr495Ala) n.2519A>G c.1480A>G (p.Thr494Ala) c.1525A>G (p.Thr509Ala) n.1860A>G c.1522A>G (p.Thr508Ala) c.1447A>G (p.Thr483Ala) c.1444A>G (p.Thr482Ala) c.1432A>G (p.Thr478Ala) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.22259636A>T | CA379922224 | ANO5 | c.1075A>T (p.Thr359Ser) c.1483A>T (p.Thr495Ser) n.2519A>T c.1480A>T (p.Thr494Ser) c.1525A>T (p.Thr509Ser) n.1860A>T c.1522A>T (p.Thr508Ser) c.1447A>T (p.Thr483Ser) c.1444A>T (p.Thr482Ser) c.1432A>T (p.Thr478Ser) | |
11 | g.22259637C>A | CA379922225 | ANO5 | c.1076C>A (p.Thr359Asn) c.1484C>A (p.Thr495Asn) n.2520C>A c.1481C>A (p.Thr494Asn) c.1526C>A (p.Thr509Asn) n.1861C>A c.1523C>A (p.Thr508Asn) c.1448C>A (p.Thr483Asn) c.1445C>A (p.Thr482Asn) c.1433C>A (p.Thr478Asn) | |
11 | g.22259637C>G | CA379922226 | ANO5 | c.1076C>G (p.Thr359Ser) c.1484C>G (p.Thr495Ser) n.2520C>G c.1481C>G (p.Thr494Ser) c.1526C>G (p.Thr509Ser) n.1861C>G c.1523C>G (p.Thr508Ser) c.1448C>G (p.Thr483Ser) c.1445C>G (p.Thr482Ser) c.1433C>G (p.Thr478Ser) | |
11 | g.22259637C>T | CA379922227 | ANO5 | c.1076C>T (p.Thr359Ile) c.1484C>T (p.Thr495Ile) n.2520C>T c.1481C>T (p.Thr494Ile) c.1526C>T (p.Thr509Ile) n.1861C>T c.1523C>T (p.Thr508Ile) c.1448C>T (p.Thr483Ile) c.1445C>T (p.Thr482Ile) c.1433C>T (p.Thr478Ile) | |
11 | g.22259638T>A | CA473405073 | ANO5 | c.1077T>A (p.Thr359=) c.1485T>A (p.Thr495=) n.2521T>A c.1482T>A (p.Thr494=) c.1527T>A (p.Thr509=) n.1862T>A c.1524T>A (p.Thr508=) c.1449T>A (p.Thr483=) c.1446T>A (p.Thr482=) c.1434T>A (p.Thr478=) | |
11 | g.22259638T>C | CA473405074 | ANO5 | c.1077T>C (p.Thr359=) c.1485T>C (p.Thr495=) n.2521T>C c.1482T>C (p.Thr494=) c.1527T>C (p.Thr509=) n.1862T>C c.1524T>C (p.Thr508=) c.1449T>C (p.Thr483=) c.1446T>C (p.Thr482=) c.1434T>C (p.Thr478=) | |
11 | g.22259638T>G | CA473405075 | ANO5 | c.1077T>G (p.Thr359=) c.1485T>G (p.Thr495=) n.2521T>G c.1482T>G (p.Thr494=) c.1527T>G (p.Thr509=) n.1862T>G c.1524T>G (p.Thr508=) c.1449T>G (p.Thr483=) c.1446T>G (p.Thr482=) c.1434T>G (p.Thr478=) | |
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 |
11 | g.22259653A>T | CA473405087 | ANO5 | c.1092A>T (p.Thr364=) c.1500A>T (p.Thr500=) n.2536A>T c.1497A>T (p.Thr499=) c.1542A>T (p.Thr514=) n.1877A>T c.1539A>T (p.Thr513=) c.1464A>T (p.Thr488=) c.1461A>T (p.Thr487=) c.1449A>T (p.Thr483=) | gnomAD v4 |
11 | g.22259654T>A | CA379922259 | ANO5 | c.1093T>A (p.Ser365Thr) c.1501T>A (p.Ser501Thr) n.2537T>A c.1498T>A (p.Ser500Thr) c.1543T>A (p.Ser515Thr) n.1878T>A c.1540T>A (p.Ser514Thr) c.1465T>A (p.Ser489Thr) c.1462T>A (p.Ser488Thr) c.1450T>A (p.Ser484Thr) | |
11 | g.22259654T>C | CA379922260 | ANO5 | c.1093T>C (p.Ser365Pro) c.1501T>C (p.Ser501Pro) n.2537T>C c.1498T>C (p.Ser500Pro) c.1543T>C (p.Ser515Pro) n.1878T>C c.1540T>C (p.Ser514Pro) c.1465T>C (p.Ser489Pro) c.1462T>C (p.Ser488Pro) c.1450T>C (p.Ser484Pro) | |
11 | g.22259654T>G | CA379922261 | ANO5 | c.1093T>G (p.Ser365Ala) c.1501T>G (p.Ser501Ala) n.2537T>G c.1498T>G (p.Ser500Ala) c.1543T>G (p.Ser515Ala) n.1878T>G c.1540T>G (p.Ser514Ala) c.1465T>G (p.Ser489Ala) c.1462T>G (p.Ser488Ala) c.1450T>G (p.Ser484Ala) | |
11 | g.22259655C>A | CA379922262 | ANO5 | c.1094C>A (p.Ser365Ter) c.1502C>A (p.Ser501Ter) n.2538C>A c.1499C>A (p.Ser500Ter) c.1544C>A (p.Ser515Ter) n.1879C>A c.1541C>A (p.Ser514Ter) c.1466C>A (p.Ser489Ter) c.1463C>A (p.Ser488Ter) c.1451C>A (p.Ser484Ter) | ClinVar dbSNP |
11 | g.22259655C= | CA1957418761 | ANO5 | c.1094C= (p.Ser365=) c.1502C= (p.Ser501=) n.2538C= c.1499C= (p.Ser500=) c.1544C= (p.Ser515=) n.1879C= c.1541C= (p.Ser514=) c.1466C= (p.Ser489=) c.1463C= (p.Ser488=) c.1451C= (p.Ser484=) | |
11 | g.22259655C>G | CA379922263 | ANO5 | c.1094C>G (p.Ser365Ter) c.1502C>G (p.Ser501Ter) n.2538C>G c.1499C>G (p.Ser500Ter) c.1544C>G (p.Ser515Ter) n.1879C>G c.1541C>G (p.Ser514Ter) c.1466C>G (p.Ser489Ter) c.1463C>G (p.Ser488Ter) c.1451C>G (p.Ser484Ter) | |
11 | g.22259655C>T | CA379922264 | ANO5 | c.1094C>T (p.Ser365Leu) c.1502C>T (p.Ser501Leu) n.2538C>T c.1499C>T (p.Ser500Leu) c.1544C>T (p.Ser515Leu) n.1879C>T c.1541C>T (p.Ser514Leu) c.1466C>T (p.Ser489Leu) c.1463C>T (p.Ser488Leu) c.1451C>T (p.Ser484Leu) | |
11 | g.22259656A= | CA1957418762 | ANO5 | c.1095A= (p.Ser365=) c.1503A= (p.Ser501=) n.2539A= c.1500A= (p.Ser500=) c.1545A= (p.Ser515=) n.1880A= c.1542A= (p.Ser514=) c.1467A= (p.Ser489=) c.1464A= (p.Ser488=) c.1452A= (p.Ser484=) | |
11 | g.22259656A>C | CA473405089 | ANO5 | c.1095A>C (p.Ser365=) c.1503A>C (p.Ser501=) n.2539A>C c.1500A>C (p.Ser500=) c.1545A>C (p.Ser515=) n.1880A>C c.1542A>C (p.Ser514=) c.1467A>C (p.Ser489=) c.1464A>C (p.Ser488=) c.1452A>C (p.Ser484=) | |
11 | g.22259656A>G | CA179748 | ANO5 | c.1095A>G (p.Ser365=) c.1503A>G (p.Ser501=) n.2539A>G c.1500A>G (p.Ser500=) c.1545A>G (p.Ser515=) n.1880A>G c.1542A>G (p.Ser514=) c.1467A>G (p.Ser489=) c.1464A>G (p.Ser488=) c.1452A>G (p.Ser484=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.22259656A>T | CA473405088 | ANO5 | c.1095A>T (p.Ser365=) c.1503A>T (p.Ser501=) n.2539A>T c.1500A>T (p.Ser500=) c.1545A>T (p.Ser515=) n.1880A>T c.1542A>T (p.Ser514=) c.1467A>T (p.Ser489=) c.1464A>T (p.Ser488=) c.1452A>T (p.Ser484=) | gnomAD v4 |
11 | g.22259657C>A | CA379922265 | ANO5 | c.1096C>A (p.Leu366Ile) c.1504C>A (p.Leu502Ile) n.2540C>A c.1501C>A (p.Leu501Ile) c.1546C>A (p.Leu516Ile) n.1881C>A c.1543C>A (p.Leu515Ile) c.1468C>A (p.Leu490Ile) c.1465C>A (p.Leu489Ile) c.1453C>A (p.Leu485Ile) | |
11 | g.22259657C>G | CA379922266 | ANO5 | c.1096C>G (p.Leu366Val) c.1504C>G (p.Leu502Val) n.2540C>G c.1501C>G (p.Leu501Val) c.1546C>G (p.Leu516Val) n.1881C>G c.1543C>G (p.Leu515Val) c.1468C>G (p.Leu490Val) c.1465C>G (p.Leu489Val) c.1453C>G (p.Leu485Val) | gnomAD v4 |
11 | g.22259657C>T | CA379922267 | ANO5 | c.1096C>T (p.Leu366Phe) c.1504C>T (p.Leu502Phe) n.2540C>T c.1501C>T (p.Leu501Phe) c.1546C>T (p.Leu516Phe) n.1881C>T c.1543C>T (p.Leu515Phe) c.1468C>T (p.Leu490Phe) c.1465C>T (p.Leu489Phe) c.1453C>T (p.Leu485Phe) | gnomAD v4 |
11 | g.22259658T>A | CA379922268 | ANO5 | c.1097T>A (p.Leu366His) c.1505T>A (p.Leu502His) n.2541T>A c.1502T>A (p.Leu501His) c.1547T>A (p.Leu516His) n.1882T>A c.1544T>A (p.Leu515His) c.1469T>A (p.Leu490His) c.1466T>A (p.Leu489His) c.1454T>A (p.Leu485His) | |
11 | g.22259658T>C | CA379922269 | ANO5 | c.1097T>C (p.Leu366Pro) c.1505T>C (p.Leu502Pro) n.2541T>C c.1502T>C (p.Leu501Pro) c.1547T>C (p.Leu516Pro) n.1882T>C c.1544T>C (p.Leu515Pro) c.1469T>C (p.Leu490Pro) c.1466T>C (p.Leu489Pro) c.1454T>C (p.Leu485Pro) | |
11 | g.22259658T>G | CA379922270 | ANO5 | c.1097T>G (p.Leu366Arg) c.1505T>G (p.Leu502Arg) n.2541T>G c.1502T>G (p.Leu501Arg) c.1547T>G (p.Leu516Arg) n.1882T>G c.1544T>G (p.Leu515Arg) c.1469T>G (p.Leu490Arg) c.1466T>G (p.Leu489Arg) c.1454T>G (p.Leu485Arg) |