| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.22259505_22259550dup | CA2505685988 | ANO5 | c.958-14_989dup c.1366-14_1397dup n.2402-14_2433dup c.1363-14_1394dup c.1408-14_1439dup n.1743-14_1774dup c.1405-14_1436dup c.1330-14_1361dup c.1327-14_1358dup c.1315-14_1346dup | |
| 11 | g.22259549_22259550insGTG | CA10604583 | ANO5 | c.988_989insGTG (p.Ala329_Val330insGly) c.1396_1397insGTG (p.Ala465_Val466insGly) n.2432_2433insGTG c.1393_1394insGTG (p.Ala464_Val465insGly) c.1438_1439insGTG (p.Ala479_Val480insGly) n.1773_1774insGTG c.1435_1436insGTG (p.Ala478_Val479insGly) c.1360_1361insGTG (p.Ala453_Val454insGly) c.1357_1358insGTG (p.Ala452_Val453insGly) c.1345_1346insGTG (p.Ala448_Val449insGly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.22259549G>A | CA379922029 | ANO5 | c.988G>A (p.Val330Ile) c.1396G>A (p.Val466Ile) n.2432G>A c.1393G>A (p.Val465Ile) c.1438G>A (p.Val480Ile) n.1773G>A c.1435G>A (p.Val479Ile) c.1360G>A (p.Val454Ile) c.1357G>A (p.Val453Ile) c.1345G>A (p.Val449Ile) | gnomAD v4 |
| 11 | g.22259549G>C | CA379922030 | ANO5 | c.988G>C (p.Val330Leu) c.1396G>C (p.Val466Leu) n.2432G>C c.1393G>C (p.Val465Leu) c.1438G>C (p.Val480Leu) n.1773G>C c.1435G>C (p.Val479Leu) c.1360G>C (p.Val454Leu) c.1357G>C (p.Val453Leu) c.1345G>C (p.Val449Leu) | |
| 11 | g.22259549G>T | CA379922031 | ANO5 | c.988G>T (p.Val330Leu) c.1396G>T (p.Val466Leu) n.2432G>T c.1393G>T (p.Val465Leu) c.1438G>T (p.Val480Leu) n.1773G>T c.1435G>T (p.Val479Leu) c.1360G>T (p.Val454Leu) c.1357G>T (p.Val453Leu) c.1345G>T (p.Val449Leu) | |
| 11 | g.22259550T>A | CA379922032 | ANO5 | c.989T>A (p.Val330Glu) c.1397T>A (p.Val466Glu) n.2433T>A c.1394T>A (p.Val465Glu) c.1439T>A (p.Val480Glu) n.1774T>A c.1436T>A (p.Val479Glu) c.1361T>A (p.Val454Glu) c.1358T>A (p.Val453Glu) c.1346T>A (p.Val449Glu) | |
| 11 | g.22259550T>C | CA379922033 | ANO5 | c.989T>C (p.Val330Ala) c.1397T>C (p.Val466Ala) n.2433T>C c.1394T>C (p.Val465Ala) c.1439T>C (p.Val480Ala) n.1774T>C c.1436T>C (p.Val479Ala) c.1361T>C (p.Val454Ala) c.1358T>C (p.Val453Ala) c.1346T>C (p.Val449Ala) | |
| 11 | g.22259550T>G | CA379922034 | ANO5 | c.989T>G (p.Val330Gly) c.1397T>G (p.Val466Gly) n.2433T>G c.1394T>G (p.Val465Gly) c.1439T>G (p.Val480Gly) n.1774T>G c.1436T>G (p.Val479Gly) c.1361T>G (p.Val454Gly) c.1358T>G (p.Val453Gly) c.1346T>G (p.Val449Gly) | |
| 11 | g.22259551A= | CA1957418722 | ANO5 | c.990A= (p.Val330=) c.1398A= (p.Val466=) n.2434A= c.1395A= (p.Val465=) c.1440A= (p.Val480=) n.1775A= c.1437A= (p.Val479=) c.1362A= (p.Val454=) c.1359A= (p.Val453=) c.1347A= (p.Val449=) | |
| 11 | g.22259551A>C | CA473404983 | ANO5 | c.990A>C (p.Val330=) c.1398A>C (p.Val466=) n.2434A>C c.1395A>C (p.Val465=) c.1440A>C (p.Val480=) n.1775A>C c.1437A>C (p.Val479=) c.1362A>C (p.Val454=) c.1359A>C (p.Val453=) c.1347A>C (p.Val449=) | |
| 11 | g.22259551A>G | CA473404984 | ANO5 | c.990A>G (p.Val330=) c.1398A>G (p.Val466=) n.2434A>G c.1395A>G (p.Val465=) c.1440A>G (p.Val480=) n.1775A>G c.1437A>G (p.Val479=) c.1362A>G (p.Val454=) c.1359A>G (p.Val453=) c.1347A>G (p.Val449=) | |
| 11 | g.22259551A>T | CA473404985 | ANO5 | c.990A>T (p.Val330=) c.1398A>T (p.Val466=) n.2434A>T c.1395A>T (p.Val465=) c.1440A>T (p.Val480=) n.1775A>T c.1437A>T (p.Val479=) c.1362A>T (p.Val454=) c.1359A>T (p.Val453=) c.1347A>T (p.Val449=) | dbSNP |
| 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) | ClinVar |
| 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) | ClinVar gnomAD v4 COSMIC |