Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.22259556T>ACA379922044ANO5c.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)
11g.22259556T>CCA379922045ANO5c.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)
11g.22259556T>GCA379922046ANO5c.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)
11g.22259556_22259561dupCA2695201106ANO5c.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
11g.22259557G>ACA473404993ANO5c.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
11g.22259557G>CCA473404994ANO5c.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=)
11g.22259557G>TCA473404995ANO5c.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=)
11g.22259558T>ACA379922047ANO5c.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)
11g.22259558T>CCA379922048ANO5c.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)
11g.22259558T>GCA379922049ANO5c.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)
11g.22259559delCA2612837674ANO5c.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
11g.22259559A=CA1957418725ANO5c.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=)
11g.22259559A>CCA379922050ANO5c.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)
11g.22259559A>GCA379922051ANO5c.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
11g.22259559A>TCA379922052ANO5c.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)
11g.22259560C>ACA379922053ANO5c.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
11g.22259560C=CA1957418726ANO5c.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=)
11g.22259560C>GCA379922054ANO5c.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)
11g.22259560C>TCA473405000ANO5c.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
11g.22259561C>ACA379922056ANO5c.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)
11g.22259561C=CA1957418727ANO5c.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=)
11g.22259561C>GCA379922055ANO5c.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)
11g.22259561C>TCA5923264ANO5c.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
11g.22259562G>ACA379922057ANO5c.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
11g.22259562G>CCA379922058ANO5c.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)
11g.22259562G>TCA379922059ANO5c.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
11g.22259563C>ACA473405003ANO5c.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
11g.22259563C=CA1957418728ANO5c.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=)
11g.22259563C>GCA473405004ANO5c.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
11g.22259563C>TCA473405006ANO5c.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=)
11g.22259564C>ACA379922060ANO5c.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)
11g.22259564C=CA1957418729ANO5c.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=)
11g.22259564C>GCA379922061ANO5c.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)
11g.22259564C>TCA5923265ANO5c.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
11g.22259565T>ACA379922062ANO5c.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)
11g.22259565T>CCA379922063ANO5c.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
11g.22259565T>GCA379922064ANO5c.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)
11g.22259566G>ACA473405007ANO5c.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=)
11g.22259566G>CCA473405008ANO5c.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=)
11g.22259566G>TCA473405009ANO5c.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=)
11g.22259567T>ACA379922065ANO5c.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)
11g.22259567T>CCA379922066ANO5c.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)
11g.22259567T>GCA379922067ANO5c.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)
11g.22259568C>ACA379922070ANO5c.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
11g.22259568C>GCA379922069ANO5c.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)
11g.22259568C>TCA379922068ANO5c.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)
11g.22259569A>CCA473405014ANO5c.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=)
11g.22259569A>GCA473405015ANO5c.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=)
11g.22259569A>TCA473405016ANO5c.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=)
11g.22259570G>ACA379922073ANO5c.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
11g.22259570G>CCA379922071ANO5c.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)
11g.22259570G>TCA379922072ANO5c.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)
11g.22259571T>ACA379922074ANO5c.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)
11g.22259571T>CCA379922075ANO5c.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)
11g.22259571T>GCA379922076ANO5c.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)
11g.22259572C>ACA473405018ANO5c.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=)
11g.22259572C>GCA473405020ANO5c.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=)
11g.22259572C>TCA473405019ANO5c.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=)
11g.22259573T>ACA379922077ANO5c.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)
11g.22259573T>CCA379922078ANO5c.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)
11g.22259573T>GCA379922079ANO5c.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)
11g.22259574T>ACA379922080ANO5c.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)
11g.22259574T>CCA379922081ANO5c.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
11g.22259574T>GCA379922082ANO5c.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)
11g.22259574T=CA1957418730ANO5c.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=)
11g.22259575T>ACA379922083ANO5c.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)
11g.22259575T>CCA473405024ANO5c.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=)
11g.22259575T>GCA379922084ANO5c.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)
11g.22259576G>ACA379922087ANO5c.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
11g.22259576G>CCA379922085ANO5c.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)
11g.22259576G>TCA379922086ANO5c.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)
11g.22259577C>ACA379922088ANO5c.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)
11g.22259577C>GCA379922089ANO5c.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)
11g.22259577C>TCA379922090ANO5c.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
11g.22259578T>ACA473405026ANO5c.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=)
11g.22259578T>CCA473405027ANO5c.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=)
11g.22259578T>GCA473405029ANO5c.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
11g.22259579A=CA1957418731ANO5c.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=)
11g.22259579A>CCA379922091ANO5c.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)
11g.22259579A>GCA5923266ANO5c.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
11g.22259579A>TCA5923267ANO5c.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
11g.22259580C>ACA379922092ANO5c.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
11g.22259580C=CA1957418732ANO5c.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=)
11g.22259580C>GCA379922093ANO5c.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)
11g.22259580C>TCA379922094ANO5c.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
11g.22259581A=CA1957418733ANO5c.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=)
11g.22259581A>CCA473405035ANO5c.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=)
11g.22259581A>GCA473405036ANO5c.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
11g.22259581A>TCA473405037ANO5c.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
11g.22259582T>ACA379922095ANO5c.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)
11g.22259582T>CCA379922096ANO5c.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)
11g.22259582T>GCA379922097ANO5c.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)
11g.22259583T>ACA379922099ANO5c.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)
11g.22259583T>CCA379922100ANO5c.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)
11g.22259583T>GCA379922098ANO5c.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)
11g.22259584T>ACA379922101ANO5c.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)
11g.22259584T>CCA473405044ANO5c.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=)
11g.22259584T>GCA379922102ANO5c.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)
11g.22259585G>ACA379922103ANO5c.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)
11g.22259585G>CCA379922104ANO5c.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)
11g.22259585G>TCA379922105ANO5c.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
11g.22259586C>ACA379922106ANO5c.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)
11g.22259586C>GCA379922107ANO5c.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)
11g.22259586C>TCA379922108ANO5c.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)
11g.22259587T>ACA473405048ANO5c.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=)
11g.22259587T>CCA473405049ANO5c.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=)
11g.22259587T>GCA473405050ANO5c.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
11g.22259588A=CA1957418734ANO5c.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=)
11g.22259588A>CCA379922109ANO5c.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)
11g.22259588A>GCA379922110ANO5c.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
11g.22259588A>TCA379922111ANO5c.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)
11g.22259589G>ACA379922112ANO5c.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)
11g.22259589G>CCA379922113ANO5c.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)
11g.22259589G=CA1957418735ANO5c.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=)
11g.22259589G>TCA379922114ANO5c.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
11g.22259590T>ACA379922116ANO5c.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)
11g.22259590T>CCA473405053ANO5c.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=)
11g.22259590T>GCA379922115ANO5c.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)
11g.22259591T>ACA379922117ANO5c.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)
11g.22259591T>CCA379922118ANO5c.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)
11g.22259591T>GCA379922119ANO5c.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)
11g.22259592T>ACA379922120ANO5c.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)
11g.22259592T>CCA379922121ANO5c.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)
11g.22259592T>GCA379922122ANO5c.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)
11g.22259593C>ACA379922123ANO5c.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)
11g.22259593C=CA1957418736ANO5c.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=)
11g.22259593C>GCA379922124ANO5c.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
11g.22259593C>TCA5923268ANO5c.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
11g.22259594A=CA1957418737ANO5c.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=)
11g.22259594A>CCA379922125ANO5c.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
11g.22259594A>GCA379922126ANO5c.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
11g.22259594A>TCA379922127ANO5c.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)
11g.22259595T>ACA379922129ANO5c.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)
11g.22259595T>CCA5923269ANO5c.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
11g.22259595T>GCA379922128ANO5c.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)
11g.22259595T=CA1957418738ANO5c.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=)
11g.22259596G>ACA379922130ANO5c.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)
11g.22259596G>CCA379922131ANO5c.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)
11g.22259596G>TCA379922132ANO5c.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)
11g.22259597G>ACA379922133ANO5c.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
11g.22259597G>CCA379922134ANO5c.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)
11g.22259597G=CA1957418739ANO5c.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=)
11g.22259597G>TCA379922135ANO5c.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)
11g.22259598A=CA1957418740ANO5c.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=)
11g.22259598A>CCA379922136ANO5c.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)
11g.22259598A>GCA5923270ANO5c.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
11g.22259598A>TCA379922137ANO5c.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)
11g.22259600delCA2612837703ANO5c.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
11g.22259599A>CCA379922138ANO5c.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)
11g.22259599A>GCA473405054ANO5c.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=)
11g.22259599A>TCA379922139ANO5c.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)
11g.22259600A>CCA379922142ANO5c.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)
11g.22259600A>GCA379922141ANO5c.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
11g.22259600A>TCA379922140ANO5c.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)
11g.22259601G>ACA379922143ANO5c.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
11g.22259601G>CCA379922144ANO5c.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)
11g.22259601G=CA1957418741ANO5c.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=)
11g.22259601G>TCA379922145ANO5c.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)
11g.22259602T>ACA379922146ANO5c.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)
11g.22259602T>CCA473405055ANO5c.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=)
11g.22259602T>GCA379922147ANO5c.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)
11g.22259603G>ACA379922148ANO5c.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
11g.22259603G>CCA379922149ANO5c.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)
11g.22259603G>TCA379922150ANO5c.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
11g.22259604A>CCA379922151ANO5c.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)
11g.22259604A>GCA379922152ANO5c.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)
11g.22259604A>TCA379922153ANO5c.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
11g.22259605T>ACA379922154ANO5c.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)
11g.22259605T>CCA473405056ANO5c.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=)
11g.22259605T>GCA379922155ANO5c.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
11g.22259606G>ACA10606949ANO5c.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
11g.22259606G>CCA5923271ANO5c.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
11g.22259606G=CA1957418742ANO5c.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=)
11g.22259606G>TCA379922156ANO5c.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)
11g.22259607C>ACA379922158ANO5c.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)
11g.22259607C>GCA379922157ANO5c.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)
11g.22259607C>TCA379922159ANO5c.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)
11g.22259608_22259610delCA2612837707ANO5c.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
11g.22259608A=CA1957418743ANO5c.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=)
11g.22259608A>CCA473405057ANO5c.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=)
11g.22259608A>GCA10604874ANO5c.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
11g.22259608A>TCA473405058ANO5c.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=)
11g.22259609T>ACA379922160ANO5c.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
11g.22259609T>CCA379922161ANO5c.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)
11g.22259609T>GCA379922162ANO5c.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)
11g.22259610C>ACA379922163ANO5c.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)
11g.22259610C>GCA379922164ANO5c.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)
11g.22259610C>TCA379922165ANO5c.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
11g.22259611C>ACA473405059ANO5c.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=)
11g.22259611C>GCA473405060ANO5c.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
11g.22259611C>TCA473405061ANO5c.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=)
11g.22259612T>ACA379922166ANO5c.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)
11g.22259612T>CCA473405062ANO5c.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=)
11g.22259612T>GCA379922167ANO5c.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)
11g.22259613T>ACA379922168ANO5c.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)
11g.22259613T>CCA379922169ANO5c.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)
11g.22259613T>GCA379922170ANO5c.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)
11g.22259614A=CA1957418744ANO5c.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=)
11g.22259614A>CCA379922172ANO5c.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)
11g.22259614A>GCA5923272ANO5c.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
11g.22259614A>TCA379922171ANO5c.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)
11g.22259615A>CCA379922173ANO5c.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)
11g.22259615A>GCA379922174ANO5c.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)
11g.22259615A>TCA379922175ANO5c.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)
11g.22259616A>CCA379922176ANO5c.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)
11g.22259616A>GCA379922177ANO5c.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)
11g.22259616A>TCA379922178ANO5c.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)
11g.22259617G>ACA473405063ANO5c.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=)
11g.22259617G>CCA379922179ANO5c.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)
11g.22259617G>TCA379922180ANO5c.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)
11g.22259618C>ACA379922181ANO5c.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)
11g.22259618C>GCA379922182ANO5c.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)
11g.22259618C>TCA379922183ANO5c.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)
11g.22259619A>CCA379922185ANO5c.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)
11g.22259619A>GCA379922186ANO5c.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)
11g.22259619A>TCA379922184ANO5c.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)
11g.22259620G>ACA5923273ANO5c.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
11g.22259620G>CCA379922187ANO5c.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)
11g.22259620G=CA1957418745ANO5c.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=)
11g.22259620G>TCA379922188ANO5c.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)
11g.22259621G>ACA379922189ANO5c.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
11g.22259621G>CCA379922190ANO5c.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)
11g.22259621G=CA1957418746ANO5c.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=)
11g.22259621G>TCA218765660ANO5c.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
11g.22259622T>ACA379922191ANO5c.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)
11g.22259622T>CCA379922192ANO5c.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)
11g.22259622T>GCA379922193ANO5c.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)
11g.22259623C>ACA473405064ANO5c.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
11g.22259623C>GCA473405065ANO5c.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
11g.22259623C>TCA473405066ANO5c.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=)
11g.22259623_22259624delinsCACA1957418747ANO5c.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=)
11g.22259624A=CA1957418748ANO5c.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=)
11g.22259624A>CCA379922194ANO5c.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
11g.22259624A>GCA379922195ANO5c.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)
11g.22259624A>TCA379922196ANO5c.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)
11g.22259627delCA598389450ANO5c.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
11g.22259625A=CA1957418749ANO5c.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=)
11g.22259625A>CCA379922198ANO5c.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)
11g.22259625A>GCA5923274ANO5c.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
11g.22259625A>TCA379922197ANO5c.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)
11g.22259626A>CCA379922199ANO5c.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)
11g.22259626A>GCA473405067ANO5c.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=)
11g.22259626A>TCA379922200ANO5c.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)
11g.22259627A=CA1957418751ANO5c.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=)
11g.22259627A>CCA379922201ANO5c.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)
11g.22259627A>GCA5923275ANO5c.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
11g.22259627A>TCA379922202ANO5c.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)
11g.22259627_22259628delinsAGCA1957418750ANO5c.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=)
11g.22259628delCA1139661865ANO5c.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
11g.22259628G>ACA379922205ANO5c.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
11g.22259628G>CCA379922203ANO5c.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)
11g.22259628G>TCA379922204ANO5c.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
11g.22259629C>ACA379922206ANO5c.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)
11g.22259629C=CA1957418753ANO5c.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=)
11g.22259629C>GCA379922207ANO5c.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
11g.22259629C>TCA473405068ANO5c.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
11g.22259629_22259630delinsCTCA1957418752ANO5c.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=)
11g.22259630T>ACA379922208ANO5c.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)
11g.22259630T>CCA379922209ANO5c.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
11g.22259630T>GCA379922210ANO5c.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)
11g.22259631delCA201242ANO5c.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
11g.22259631T>ACA379922212ANO5c.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)
11g.22259631T>CCA379922211ANO5c.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
11g.22259631T>GCA379922213ANO5c.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
11g.22259632C>ACA379922215ANO5c.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)
11g.22259632C>GCA379922214ANO5c.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)
11g.22259632C>TCA473405069ANO5c.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
11g.22259633C>ACA379922216ANO5c.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)
11g.22259633C>GCA379922217ANO5c.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
11g.22259633C>TCA379922218ANO5c.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)
11g.22259634T>ACA379922219ANO5c.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)
11g.22259634T>CCA379922220ANO5c.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)
11g.22259634T>GCA379922221ANO5c.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)
11g.22259635dupCA2612837721ANO5c.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
11g.22259635T>ACA473405070ANO5c.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=)
11g.22259635T>CCA473405071ANO5c.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=)
11g.22259635T>GCA473405072ANO5c.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=)
11g.22259636A=CA1957418754ANO5c.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=)
11g.22259636A>CCA379922222ANO5c.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)
11g.22259636A>GCA379922223ANO5c.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
11g.22259636A>TCA379922224ANO5c.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)
11g.22259637C>ACA379922225ANO5c.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)
11g.22259637C>GCA379922226ANO5c.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)
11g.22259637C>TCA379922227ANO5c.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)
11g.22259638T>ACA473405073ANO5c.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=)
11g.22259638T>CCA473405074ANO5c.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=)
11g.22259638T>GCA473405075ANO5c.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=)
11g.22259639C>ACA379922230ANO5c.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)
11g.22259639C>GCA379922228ANO5c.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
11g.22259639C>TCA379922229ANO5c.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)
11g.22259640C>ACA379922231ANO5c.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)
11g.22259640C>GCA379922232ANO5c.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)
11g.22259640C>TCA379922233ANO5c.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)
11g.22259641T>ACA473405078ANO5c.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=)
11g.22259641T>CCA473405077ANO5c.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=)
11g.22259641T>GCA473405076ANO5c.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=)
11g.22259642C>ACA379922234ANO5c.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)
11g.22259642C=CA1957418755ANO5c.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=)
11g.22259642C>GCA379922235ANO5c.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)
11g.22259642C>TCA379922236ANO5c.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
11g.22259643A>CCA379922237ANO5c.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)
11g.22259643A>GCA379922238ANO5c.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)
11g.22259643A>TCA379922239ANO5c.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)
11g.22259644G>ACA473405079ANO5c.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
11g.22259644G>CCA379922240ANO5c.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)
11g.22259644G>TCA379922241ANO5c.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)
11g.22259645A=CA1957418756ANO5c.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=)
11g.22259645A>CCA379922244ANO5c.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)
11g.22259645A>GCA379922243ANO5c.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
11g.22259645A>TCA379922242ANO5c.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)
11g.22259646T>ACA379922245ANO5c.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)
11g.22259646T>CCA379922246ANO5c.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
11g.22259646T>GCA379922247ANO5c.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)
11g.22259647A=CA1957418757ANO5c.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=)
11g.22259647A>CCA473405080ANO5c.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=)
11g.22259647A>GCA379922248ANO5c.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
11g.22259647A>TCA473405081ANO5c.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=)
11g.22259648A>CCA379922249ANO5c.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)
11g.22259648A>GCA379922250ANO5c.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)
11g.22259648A>TCA379922251ANO5c.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)
11g.22259649C>ACA379922252ANO5c.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)
11g.22259649C=CA1957418758ANO5c.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=)
11g.22259649C>GCA379922253ANO5c.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)
11g.22259649C>TCA10606250ANO5c.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
11g.22259650C>ACA473405082ANO5c.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
11g.22259650C=CA1957418759ANO5c.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=)
11g.22259650C>GCA473405083ANO5c.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
11g.22259650C>TCA473405084ANO5c.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=)
11g.22259651A>CCA379922254ANO5c.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)
11g.22259651A>GCA379922255ANO5c.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)
11g.22259651A>TCA379922256ANO5c.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)
11g.22259652C>ACA379922258ANO5c.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)
11g.22259652C=CA1957418760ANO5c.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=)
11g.22259652C>GCA379922257ANO5c.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
11g.22259652C>TCA144627ANO5c.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
11g.22259653A>CCA473405085ANO5c.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=)
11g.22259653A>GCA473405086ANO5c.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
11g.22259653A>TCA473405087ANO5c.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
11g.22259654T>ACA379922259ANO5c.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)
11g.22259654T>CCA379922260ANO5c.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)
11g.22259654T>GCA379922261ANO5c.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)
11g.22259655C>ACA379922262ANO5c.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
11g.22259655C=CA1957418761ANO5c.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=)
11g.22259655C>GCA379922263ANO5c.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)
11g.22259655C>TCA379922264ANO5c.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)
11g.22259656A=CA1957418762ANO5c.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=)
11g.22259656A>CCA473405089ANO5c.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=)
11g.22259656A>GCA179748ANO5c.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
11g.22259656A>TCA473405088ANO5c.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

Number of alleles fetched