| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.22259552A>C | CA379922035 | ANO5 | c.991A>C (p.Ile331Leu) c.1399A>C (p.Ile467Leu) n.2435A>C c.1396A>C (p.Ile466Leu) c.1441A>C (p.Ile481Leu) n.1776A>C c.1438A>C (p.Ile480Leu) c.1363A>C (p.Ile455Leu) c.1360A>C (p.Ile454Leu) c.1348A>C (p.Ile450Leu) | |
| 11 | g.22259552A>G | CA379922036 | ANO5 | c.991A>G (p.Ile331Val) c.1399A>G (p.Ile467Val) n.2435A>G c.1396A>G (p.Ile466Val) c.1441A>G (p.Ile481Val) n.1776A>G c.1438A>G (p.Ile480Val) c.1363A>G (p.Ile455Val) c.1360A>G (p.Ile454Val) c.1348A>G (p.Ile450Val) | |
| 11 | g.22259552A>T | CA379922037 | ANO5 | c.991A>T (p.Ile331Phe) c.1399A>T (p.Ile467Phe) n.2435A>T c.1396A>T (p.Ile466Phe) c.1441A>T (p.Ile481Phe) n.1776A>T c.1438A>T (p.Ile480Phe) c.1363A>T (p.Ile455Phe) c.1360A>T (p.Ile454Phe) c.1348A>T (p.Ile450Phe) | |
| 11 | g.22259553T>A | CA379922038 | ANO5 | c.992T>A (p.Ile331Asn) c.1400T>A (p.Ile467Asn) n.2436T>A c.1397T>A (p.Ile466Asn) c.1442T>A (p.Ile481Asn) n.1777T>A c.1439T>A (p.Ile480Asn) c.1364T>A (p.Ile455Asn) c.1361T>A (p.Ile454Asn) c.1349T>A (p.Ile450Asn) | |
| 11 | g.22259553T>C | CA5923263 | ANO5 | c.992T>C (p.Ile331Thr) c.1400T>C (p.Ile467Thr) n.2436T>C c.1397T>C (p.Ile466Thr) c.1442T>C (p.Ile481Thr) n.1777T>C c.1439T>C (p.Ile480Thr) c.1364T>C (p.Ile455Thr) c.1361T>C (p.Ile454Thr) c.1349T>C (p.Ile450Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.22259553T>G | CA379922039 | ANO5 | c.992T>G (p.Ile331Ser) c.1400T>G (p.Ile467Ser) n.2436T>G c.1397T>G (p.Ile466Ser) c.1442T>G (p.Ile481Ser) n.1777T>G c.1439T>G (p.Ile480Ser) c.1364T>G (p.Ile455Ser) c.1361T>G (p.Ile454Ser) c.1349T>G (p.Ile450Ser) | |
| 11 | g.22259553T= | CA1957418723 | ANO5 | c.992T= (p.Ile331=) c.1400T= (p.Ile467=) n.2436T= c.1397T= (p.Ile466=) c.1442T= (p.Ile481=) n.1777T= c.1439T= (p.Ile480=) c.1364T= (p.Ile455=) c.1361T= (p.Ile454=) c.1349T= (p.Ile450=) | |
| 11 | g.22259554T>A | CA473404989 | ANO5 | c.993T>A (p.Ile331=) c.1401T>A (p.Ile467=) n.2437T>A c.1398T>A (p.Ile466=) c.1443T>A (p.Ile481=) n.1778T>A c.1440T>A (p.Ile480=) c.1365T>A (p.Ile455=) c.1362T>A (p.Ile454=) c.1350T>A (p.Ile450=) | |
| 11 | g.22259554T>C | CA473404991 | ANO5 | c.993T>C (p.Ile331=) c.1401T>C (p.Ile467=) n.2437T>C c.1398T>C (p.Ile466=) c.1443T>C (p.Ile481=) n.1778T>C c.1440T>C (p.Ile480=) c.1365T>C (p.Ile455=) c.1362T>C (p.Ile454=) c.1350T>C (p.Ile450=) | |
| 11 | g.22259554T>G | CA379922040 | ANO5 | c.993T>G (p.Ile331Met) c.1401T>G (p.Ile467Met) n.2437T>G c.1398T>G (p.Ile466Met) c.1443T>G (p.Ile481Met) n.1778T>G c.1440T>G (p.Ile480Met) c.1365T>G (p.Ile455Met) c.1362T>G (p.Ile454Met) c.1350T>G (p.Ile450Met) | |
| 11 | g.22259555G>A | CA379922042 | ANO5 | c.994G>A (p.Val332Met) c.1402G>A (p.Val468Met) n.2438G>A c.1399G>A (p.Val467Met) c.1444G>A (p.Val482Met) n.1779G>A c.1441G>A (p.Val481Met) c.1366G>A (p.Val456Met) c.1363G>A (p.Val455Met) c.1351G>A (p.Val451Met) | ClinVar |
| 11 | g.22259555G>C | CA379922041 | ANO5 | c.994G>C (p.Val332Leu) c.1402G>C (p.Val468Leu) n.2438G>C c.1399G>C (p.Val467Leu) c.1444G>C (p.Val482Leu) n.1779G>C c.1441G>C (p.Val481Leu) c.1366G>C (p.Val456Leu) c.1363G>C (p.Val455Leu) c.1351G>C (p.Val451Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.22259555G= | CA1957418724 | ANO5 | c.994G= (p.Val332=) c.1402G= (p.Val468=) n.2438G= c.1399G= (p.Val467=) c.1444G= (p.Val482=) n.1779G= c.1441G= (p.Val481=) c.1366G= (p.Val456=) c.1363G= (p.Val455=) c.1351G= (p.Val451=) | |
| 11 | g.22259555G>T | CA379922043 | ANO5 | c.994G>T (p.Val332Leu) c.1402G>T (p.Val468Leu) n.2438G>T c.1399G>T (p.Val467Leu) c.1444G>T (p.Val482Leu) n.1779G>T c.1441G>T (p.Val481Leu) c.1366G>T (p.Val456Leu) c.1363G>T (p.Val455Leu) c.1351G>T (p.Val451Leu) | dbSNP gnomAD v4 |
| 11 | g.22259556T>A | CA379922044 | ANO5 | c.995T>A (p.Val332Glu) c.1403T>A (p.Val468Glu) n.2439T>A c.1400T>A (p.Val467Glu) c.1445T>A (p.Val482Glu) n.1780T>A c.1442T>A (p.Val481Glu) c.1367T>A (p.Val456Glu) c.1364T>A (p.Val455Glu) c.1352T>A (p.Val451Glu) | |
| 11 | g.22259556T>C | CA379922045 | ANO5 | c.995T>C (p.Val332Ala) c.1403T>C (p.Val468Ala) n.2439T>C c.1400T>C (p.Val467Ala) c.1445T>C (p.Val482Ala) n.1780T>C c.1442T>C (p.Val481Ala) c.1367T>C (p.Val456Ala) c.1364T>C (p.Val455Ala) c.1352T>C (p.Val451Ala) | |
| 11 | g.22259556T>G | CA379922046 | ANO5 | c.995T>G (p.Val332Gly) c.1403T>G (p.Val468Gly) n.2439T>G c.1400T>G (p.Val467Gly) c.1445T>G (p.Val482Gly) n.1780T>G c.1442T>G (p.Val481Gly) c.1367T>G (p.Val456Gly) c.1364T>G (p.Val455Gly) c.1352T>G (p.Val451Gly) | |
| 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) | |
| 11 | g.22259557G>A | CA473404993 | ANO5 | c.996G>A (p.Val332=) c.1404G>A (p.Val468=) n.2440G>A c.1401G>A (p.Val467=) c.1446G>A (p.Val482=) n.1781G>A c.1443G>A (p.Val481=) c.1368G>A (p.Val456=) c.1365G>A (p.Val455=) c.1353G>A (p.Val451=) | gnomAD v4 |
| 11 | g.22259557G>C | CA473404994 | ANO5 | c.996G>C (p.Val332=) c.1404G>C (p.Val468=) n.2440G>C c.1401G>C (p.Val467=) c.1446G>C (p.Val482=) n.1781G>C c.1443G>C (p.Val481=) c.1368G>C (p.Val456=) c.1365G>C (p.Val455=) c.1353G>C (p.Val451=) | |
| 11 | g.22259557G>T | CA473404995 | ANO5 | c.996G>T (p.Val332=) c.1404G>T (p.Val468=) n.2440G>T c.1401G>T (p.Val467=) c.1446G>T (p.Val482=) n.1781G>T c.1443G>T (p.Val481=) c.1368G>T (p.Val456=) c.1365G>T (p.Val455=) c.1353G>T (p.Val451=) | |
| 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) | 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=) | 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 |