Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.5045450G>ACA383466193KCNA5c.1303G>A (p.Gly435Arg)
ClinVar dbSNP gnomAD v4
12g.5045450G>CCA383466194KCNA5c.1303G>C (p.Gly435Arg)
12g.5045450G=CA2013431239KCNA5c.1303G= (p.Gly435=)
12g.5045450G>TCA383466195KCNA5c.1303G>T (p.Gly435Trp)
12g.5045451G>ACA383466196KCNA5c.1304G>A (p.Gly435Glu)
12g.5045451G>CCA383466197KCNA5c.1304G>C (p.Gly435Ala)
12g.5045451G>TCA383466198KCNA5c.1304G>T (p.Gly435Val)
12g.5045452G>ACA478095748KCNA5c.1305G>A (p.Gly435=)
dbSNP gnomAD v4
12g.5045452G>CCA478095747KCNA5c.1305G>C (p.Gly435=)
12g.5045452G=CA2013431240KCNA5c.1305G= (p.Gly435=)
12g.5045452G>TCA478095746KCNA5c.1305G>T (p.Gly435=)
12g.5045453C>ACA383466199KCNA5c.1306C>A (p.Leu436Met)
12g.5045453C>GCA383466200KCNA5c.1306C>G (p.Leu436Val)
12g.5045453C>TCA478095749KCNA5c.1306C>T (p.Leu436=)
12g.5045454T>ACA383466201KCNA5c.1307T>A (p.Leu436Gln)
12g.5045454T>CCA383466202KCNA5c.1307T>C (p.Leu436Pro)
12g.5045454T>GCA231868793KCNA5c.1307T>G (p.Leu436Arg)
dbSNP gnomAD v3 gnomAD v4
12g.5045454T=CA2013431241KCNA5c.1307T= (p.Leu436=)
12g.5045455G>ACA478095750KCNA5c.1308G>A (p.Leu436=)
12g.5045455G>CCA478095751KCNA5c.1308G>C (p.Leu436=)
12g.5045455G=CA2013431242KCNA5c.1308G= (p.Leu436=)
12g.5045455G>TCA478095752KCNA5c.1308G>T (p.Leu436=)
dbSNP gnomAD v2 gnomAD v4
12g.5045456C>ACA383466203KCNA5c.1309C>A (p.Leu437Ile)
12g.5045456C>GCA383466204KCNA5c.1309C>G (p.Leu437Val)
12g.5045456C>TCA383466205KCNA5c.1309C>T (p.Leu437Phe)
12g.5045457T>ACA383466206KCNA5c.1310T>A (p.Leu437His)
12g.5045457T>CCA383466207KCNA5c.1310T>C (p.Leu437Pro)
ClinVar
12g.5045457T>GCA383466208KCNA5c.1310T>G (p.Leu437Arg)
12g.5045458C>ACA478095754KCNA5c.1311C>A (p.Leu437=)
12g.5045458C>GCA478095755KCNA5c.1311C>G (p.Leu437=)
12g.5045458C>TCA478095753KCNA5c.1311C>T (p.Leu437=)
12g.5045459A=CA2013431244KCNA5c.1312A= (p.Ile438=)
12g.5045459A>CCA383466209KCNA5c.1312A>C (p.Ile438Leu)
dbSNP gnomAD v3 gnomAD v4
12g.5045459A>GCA6399844KCNA5c.1312A>G (p.Ile438Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5045459A>TCA383466210KCNA5c.1312A>T (p.Ile438Phe)
12g.5045459_5045462delinsATCTCA2013431243KCNA5c.1312_1315delinsATCT (p.Ile438=)
12g.5045460T>ACA383466212KCNA5c.1313T>A (p.Ile438Asn)
gnomAD v4
12g.5045460T>CCA383466213KCNA5c.1313T>C (p.Ile438Thr)
dbSNP
12g.5045460T>GCA383466211KCNA5c.1313T>G (p.Ile438Ser)
12g.5045460T=CA2013431245KCNA5c.1313T= (p.Ile438=)
12g.5045465_5045467delCA6399845KCNA5c.1318_1320del (p.Phe440del)
dbSNP ExAC
12g.5045461C>ACA478095756KCNA5c.1314C>A (p.Ile438=)
12g.5045461C>GCA383466214KCNA5c.1314C>G (p.Ile438Met)
gnomAD v4
12g.5045461C>TCA478095757KCNA5c.1314C>T (p.Ile438=)
12g.5045462T>ACA383466215KCNA5c.1315T>A (p.Phe439Ile)
12g.5045462T>CCA383466216KCNA5c.1315T>C (p.Phe439Leu)
12g.5045462T>GCA383466217KCNA5c.1315T>G (p.Phe439Val)
12g.5045463T>ACA383466218KCNA5c.1316T>A (p.Phe439Tyr)
12g.5045463T>CCA383466219KCNA5c.1316T>C (p.Phe439Ser)
12g.5045463T>GCA383466220KCNA5c.1316T>G (p.Phe439Cys)
12g.5045464C>ACA383466221KCNA5c.1317C>A (p.Phe439Leu)
12g.5045464C>GCA383466222KCNA5c.1317C>G (p.Phe439Leu)
12g.5045464C>TCA478095758KCNA5c.1317C>T (p.Phe439=)
ClinVar gnomAD v4
12g.5045465T>ACA383466223KCNA5c.1318T>A (p.Phe440Ile)
12g.5045465T>CCA383466224KCNA5c.1318T>C (p.Phe440Leu)
12g.5045465T>GCA383466225KCNA5c.1318T>G (p.Phe440Val)
12g.5045466T>ACA383466226KCNA5c.1319T>A (p.Phe440Tyr)
12g.5045466T>CCA383466227KCNA5c.1319T>C (p.Phe440Ser)
12g.5045466T>GCA383466228KCNA5c.1319T>G (p.Phe440Cys)
12g.5045467C>ACA383466229KCNA5c.1320C>A (p.Phe440Leu)
12g.5045467C>GCA383466230KCNA5c.1320C>G (p.Phe440Leu)
12g.5045467C>TCA478095759KCNA5c.1320C>T (p.Phe440=)
COSMIC
12g.5045468C>ACA383466231KCNA5c.1321C>A (p.Leu441Ile)
12g.5045468C>GCA383466232KCNA5c.1321C>G (p.Leu441Val)
dbSNP
12g.5045468C>TCA383466233KCNA5c.1321C>T (p.Leu441Phe)
gnomAD v4
12g.5045469T>ACA383466234KCNA5c.1322T>A (p.Leu441His)
12g.5045469T>CCA383466235KCNA5c.1322T>C (p.Leu441Pro)
dbSNP gnomAD v3 gnomAD v4
12g.5045469T>GCA383466236KCNA5c.1322T>G (p.Leu441Arg)
12g.5045469T=CA2013431246KCNA5c.1322T= (p.Leu441=)
12g.5045470C>ACA478095760KCNA5c.1323C>A (p.Leu441=)
12g.5045470C=CA2013431247KCNA5c.1323C= (p.Leu441=)
12g.5045470C>GCA478095761KCNA5c.1323C>G (p.Leu441=)
12g.5045470C>TCA478095762KCNA5c.1323C>T (p.Leu441=)
dbSNP
12g.5045471T>ACA383466237KCNA5c.1324T>A (p.Phe442Ile)
12g.5045471T>CCA383466238KCNA5c.1324T>C (p.Phe442Leu)
gnomAD v4
12g.5045471T>GCA383466239KCNA5c.1324T>G (p.Phe442Val)
12g.5045472T>ACA383466240KCNA5c.1325T>A (p.Phe442Tyr)
12g.5045472T>CCA383466241KCNA5c.1325T>C (p.Phe442Ser)
12g.5045472T>GCA383466242KCNA5c.1325T>G (p.Phe442Cys)
12g.5045473C>ACA383466244KCNA5c.1326C>A (p.Phe442Leu)
12g.5045473C>GCA383466243KCNA5c.1326C>G (p.Phe442Leu)
12g.5045473C>TCA478095765KCNA5c.1326C>T (p.Phe442=)
12g.5045474A=CA2013431248KCNA5c.1327A= (p.Ile443=)
12g.5045474A>CCA383466245KCNA5c.1327A>C (p.Ile443Leu)
12g.5045474A>GCA6399846KCNA5c.1327A>G (p.Ile443Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5045474A>TCA383466246KCNA5c.1327A>T (p.Ile443Phe)
12g.5045475T>ACA383466247KCNA5c.1328T>A (p.Ile443Asn)
12g.5045475T>CCA383466248KCNA5c.1328T>C (p.Ile443Thr)
dbSNP gnomAD v2 gnomAD v4
12g.5045475T>GCA383466249KCNA5c.1328T>G (p.Ile443Ser)
12g.5045475T=CA2013431249KCNA5c.1328T= (p.Ile443=)
12g.5045476C>ACA6399848KCNA5c.1329C>A (p.Ile443=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.5045476C=CA2013431250KCNA5c.1329C= (p.Ile443=)
12g.5045476C>GCA6399849KCNA5c.1329C>G (p.Ile443Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5045476C>TCA6399847KCNA5c.1329C>T (p.Ile443=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.5045477G>ACA383466250KCNA5c.1330G>A (p.Gly444Arg)
gnomAD v4
12g.5045477G>CCA383466251KCNA5c.1330G>C (p.Gly444Arg)
gnomAD v4
12g.5045477G>TCA383466252KCNA5c.1330G>T (p.Gly444Trp)
12g.5045480dupCA944256437KCNA5c.1333dup (p.Val445GlyfsTer14)
dbSNP gnomAD v3 gnomAD v4
12g.5045478G>ACA383466253KCNA5c.1331G>A (p.Gly444Glu)
12g.5045478G>CCA383466254KCNA5c.1331G>C (p.Gly444Ala)
12g.5045478G>TCA383466255KCNA5c.1331G>T (p.Gly444Val)
12g.5045479G>ACA478095773KCNA5c.1332G>A (p.Gly444=)
dbSNP gnomAD v4
12g.5045479G>CCA478095774KCNA5c.1332G>C (p.Gly444=)
12g.5045479G=CA2013431251KCNA5c.1332G= (p.Gly444=)
12g.5045479G>TCA478095775KCNA5c.1332G>T (p.Gly444=)
12g.5045480G>ACA383466256KCNA5c.1333G>A (p.Val445Ile)
12g.5045480G>CCA383466258KCNA5c.1333G>C (p.Val445Leu)
12g.5045480G>TCA383466257KCNA5c.1333G>T (p.Val445Phe)
gnomAD v4
12g.5045481T>ACA383466259KCNA5c.1334T>A (p.Val445Asp)
12g.5045481T>CCA383466260KCNA5c.1334T>C (p.Val445Ala)
12g.5045481T>GCA383466261KCNA5c.1334T>G (p.Val445Gly)
12g.5045482C>ACA478095779KCNA5c.1335C>A (p.Val445=)
12g.5045482C>GCA478095778KCNA5c.1335C>G (p.Val445=)
12g.5045482C>TCA478095776KCNA5c.1335C>T (p.Val445=)
gnomAD v4
12g.5045483A=CA2013431252KCNA5c.1336A= (p.Ile446=)
12g.5045483A>CCA383466262KCNA5c.1336A>C (p.Ile446Leu)
dbSNP gnomAD v2 gnomAD v4
12g.5045483A>GCA383466263KCNA5c.1336A>G (p.Ile446Val)
12g.5045483A>TCA383466264KCNA5c.1336A>T (p.Ile446Phe)
12g.5045484T>ACA383466265KCNA5c.1337T>A (p.Ile446Asn)
12g.5045484T>CCA383466266KCNA5c.1337T>C (p.Ile446Thr)
12g.5045484T>GCA383466267KCNA5c.1337T>G (p.Ile446Ser)
12g.5045485C>ACA478095780KCNA5c.1338C>A (p.Ile446=)
gnomAD v4
12g.5045485C=CA2013431253KCNA5c.1338C= (p.Ile446=)
12g.5045485C>GCA383466268KCNA5c.1338C>G (p.Ile446Met)
12g.5045485C>TCA478095781KCNA5c.1338C>T (p.Ile446=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.5045486C>ACA383466269KCNA5c.1339C>A (p.Leu447Ile)
12g.5045486C>GCA383466270KCNA5c.1339C>G (p.Leu447Val)
12g.5045486C>TCA383466271KCNA5c.1339C>T (p.Leu447Phe)
12g.5045487T>ACA383466273KCNA5c.1340T>A (p.Leu447His)
12g.5045487T>CCA383466274KCNA5c.1340T>C (p.Leu447Pro)
12g.5045487T>GCA383466272KCNA5c.1340T>G (p.Leu447Arg)
12g.5045488C>ACA6399850KCNA5c.1341C>A (p.Leu447=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5045488C=CA2013431254KCNA5c.1341C= (p.Leu447=)
12g.5045488C>GCA478095798KCNA5c.1341C>G (p.Leu447=)
12g.5045488C>TCA478095794KCNA5c.1341C>T (p.Leu447=)
gnomAD v4
12g.5045489T>ACA383466275KCNA5c.1342T>A (p.Phe448Ile)
12g.5045489T>CCA383466277KCNA5c.1342T>C (p.Phe448Leu)
12g.5045489T>GCA383466276KCNA5c.1342T>G (p.Phe448Val)
12g.5045490T>ACA383466278KCNA5c.1343T>A (p.Phe448Tyr)
12g.5045490T>CCA383466280KCNA5c.1343T>C (p.Phe448Ser)
12g.5045490T>GCA383466279KCNA5c.1343T>G (p.Phe448Cys)
12g.5045491C>ACA383466281KCNA5c.1344C>A (p.Phe448Leu)
12g.5045491C>GCA383466282KCNA5c.1344C>G (p.Phe448Leu)
12g.5045491C>TCA478095801KCNA5c.1344C>T (p.Phe448=)
12g.5045492T>ACA383466283KCNA5c.1345T>A (p.Ser449Thr)
12g.5045492T>CCA383466284KCNA5c.1345T>C (p.Ser449Pro)
COSMIC
12g.5045492T>GCA383466285KCNA5c.1345T>G (p.Ser449Ala)
12g.5045493C>ACA383466286KCNA5c.1346C>A (p.Ser449Tyr)
12g.5045493C>GCA383466287KCNA5c.1346C>G (p.Ser449Cys)
12g.5045493C>TCA383466288KCNA5c.1346C>T (p.Ser449Phe)
12g.5045494C>ACA478095803KCNA5c.1347C>A (p.Ser449=)
12g.5045494C=CA2013431255KCNA5c.1347C= (p.Ser449=)
12g.5045494C>GCA478095806KCNA5c.1347C>G (p.Ser449=)
12g.5045494C>TCA478095804KCNA5c.1347C>T (p.Ser449=)
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.5045495A>CCA383466289KCNA5c.1348A>C (p.Ser450Arg)
12g.5045495A>GCA383466290KCNA5c.1348A>G (p.Ser450Gly)
12g.5045495A>TCA383466291KCNA5c.1348A>T (p.Ser450Cys)
12g.5045496G>ACA6399851KCNA5c.1349G>A (p.Ser450Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.5045496G>CCA6399852KCNA5c.1349G>C (p.Ser450Thr)
dbSNP ExAC gnomAD v2
12g.5045496G=CA2013431256KCNA5c.1349G= (p.Ser450=)
12g.5045496G>TCA383466292KCNA5c.1349G>T (p.Ser450Ile)
12g.5045497T>ACA383466294KCNA5c.1350T>A (p.Ser450Arg)
12g.5045497T>CCA478095808KCNA5c.1350T>C (p.Ser450=)
12g.5045497T>GCA383466293KCNA5c.1350T>G (p.Ser450Arg)
12g.5045498G>ACA383466295KCNA5c.1351G>A (p.Ala451Thr)
12g.5045498G>CCA383466296KCNA5c.1351G>C (p.Ala451Pro)
12g.5045498G>TCA383466297KCNA5c.1351G>T (p.Ala451Ser)
12g.5045499C>ACA383466298KCNA5c.1352C>A (p.Ala451Asp)
12g.5045499C>GCA383466299KCNA5c.1352C>G (p.Ala451Gly)
12g.5045499C>TCA383466300KCNA5c.1352C>T (p.Ala451Val)
gnomAD v4
12g.5045500C>ACA478095812KCNA5c.1353C>A (p.Ala451=)
12g.5045500C=CA2013431257KCNA5c.1353C= (p.Ala451=)
12g.5045500C>GCA6399853KCNA5c.1353C>G (p.Ala451=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5045500C>TCA6399854KCNA5c.1353C>T (p.Ala451=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5045501G>ACA383466301KCNA5c.1354G>A (p.Val452Ile)
ClinVar dbSNP gnomAD v4
12g.5045501G>CCA383466302KCNA5c.1354G>C (p.Val452Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
12g.5045501G=CA2013431258KCNA5c.1354G= (p.Val452=)
12g.5045501G>TCA383466303KCNA5c.1354G>T (p.Val452Phe)
12g.5045502T>ACA383466306KCNA5c.1355T>A (p.Val452Asp)
12g.5045502T>CCA383466305KCNA5c.1355T>C (p.Val452Ala)
12g.5045502T>GCA383466304KCNA5c.1355T>G (p.Val452Gly)
12g.5045503C>ACA478095814KCNA5c.1356C>A (p.Val452=)
12g.5045503C=CA2013431259KCNA5c.1356C= (p.Val452=)
12g.5045503C>GCA478095816KCNA5c.1356C>G (p.Val452=)
12g.5045503C>TCA478095818KCNA5c.1356C>T (p.Val452=)
dbSNP
12g.5045504T>ACA383466307KCNA5c.1357T>A (p.Tyr453Asn)
12g.5045504T>CCA383466308KCNA5c.1357T>C (p.Tyr453His)
12g.5045504T>GCA383466309KCNA5c.1357T>G (p.Tyr453Asp)
12g.5045505A=CA2013431260KCNA5c.1358A= (p.Tyr453=)
12g.5045505A>CCA383466310KCNA5c.1358A>C (p.Tyr453Ser)
12g.5045505A>GCA231868855KCNA5c.1358A>G (p.Tyr453Cys)
dbSNP gnomAD v2 gnomAD v4
12g.5045505A>TCA383466311KCNA5c.1358A>T (p.Tyr453Phe)
12g.5045506C>ACA383466312KCNA5c.1359C>A (p.Tyr453Ter)
12g.5045506C>GCA383466313KCNA5c.1359C>G (p.Tyr453Ter)
12g.5045506C>TCA478095820KCNA5c.1359C>T (p.Tyr453=)
12g.5045507T>ACA383466314KCNA5c.1360T>A (p.Phe454Ile)
12g.5045507T>CCA383466315KCNA5c.1360T>C (p.Phe454Leu)
12g.5045507T>GCA383466316KCNA5c.1360T>G (p.Phe454Val)
12g.5045508T>ACA383466319KCNA5c.1361T>A (p.Phe454Tyr)
12g.5045508T>CCA383466318KCNA5c.1361T>C (p.Phe454Ser)
12g.5045508T>GCA383466317KCNA5c.1361T>G (p.Phe454Cys)
12g.5045509C>ACA383466320KCNA5c.1362C>A (p.Phe454Leu)
12g.5045509C=CA2013431261KCNA5c.1362C= (p.Phe454=)
12g.5045509C>GCA383466321KCNA5c.1362C>G (p.Phe454Leu)
gnomAD v4
12g.5045509C>TCA6399855KCNA5c.1362C>T (p.Phe454=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.5045510G>ACA6399856KCNA5c.1363G>A (p.Ala455Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.5045510G>CCA383466322KCNA5c.1363G>C (p.Ala455Pro)
12g.5045510G=CA2013431262KCNA5c.1363G= (p.Ala455=)
12g.5045510G>TCA383466323KCNA5c.1363G>T (p.Ala455Ser)
dbSNP
12g.5045511C>ACA383466324KCNA5c.1364C>A (p.Ala455Glu)
12g.5045511C>GCA383466325KCNA5c.1364C>G (p.Ala455Gly)
12g.5045511C>TCA383466326KCNA5c.1364C>T (p.Ala455Val)
12g.5045512A=CA2013431263KCNA5c.1365A= (p.Ala455=)
12g.5045512A>CCA478095821KCNA5c.1365A>C (p.Ala455=)
12g.5045512A>GCA478095822KCNA5c.1365A>G (p.Ala455=)
gnomAD v4
12g.5045512A>TCA478095823KCNA5c.1365A>T (p.Ala455=)
dbSNP gnomAD v4
12g.5045513G>ACA383466327KCNA5c.1366G>A (p.Glu456Lys)
12g.5045513G>CCA383466328KCNA5c.1366G>C (p.Glu456Gln)
12g.5045513G>TCA383466329KCNA5c.1366G>T (p.Glu456Ter)
12g.5045514A>CCA383466332KCNA5c.1367A>C (p.Glu456Ala)
12g.5045514A>GCA383466331KCNA5c.1367A>G (p.Glu456Gly)
12g.5045514A>TCA383466330KCNA5c.1367A>T (p.Glu456Val)
12g.5045515G>ACA478095824KCNA5c.1368G>A (p.Glu456=)
12g.5045515G>CCA231868869KCNA5c.1368G>C (p.Glu456Asp)
dbSNP
12g.5045515G=CA2013431264KCNA5c.1368G= (p.Glu456=)
12g.5045515G>TCA383466333KCNA5c.1368G>T (p.Glu456Asp)
12g.5045516G>ACA383466334KCNA5c.1369G>A (p.Ala457Thr)
12g.5045516G>CCA383466335KCNA5c.1369G>C (p.Ala457Pro)
gnomAD v4
12g.5045516G>TCA383466336KCNA5c.1369G>T (p.Ala457Ser)
12g.5045517C>ACA383466337KCNA5c.1370C>A (p.Ala457Asp)
12g.5045517C=CA2013431265KCNA5c.1370C= (p.Ala457=)
12g.5045517C>GCA383466338KCNA5c.1370C>G (p.Ala457Gly)
12g.5045517C>TCA6399857KCNA5c.1370C>T (p.Ala457Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5045518T>ACA478095828KCNA5c.1371T>A (p.Ala457=)
gnomAD v4
12g.5045518T>CCA478095830KCNA5c.1371T>C (p.Ala457=)
12g.5045518T>GCA478095831KCNA5c.1371T>G (p.Ala457=)
12g.5045519G>ACA383466339KCNA5c.1372G>A (p.Asp458Asn)
ClinVar dbSNP
12g.5045519G>CCA383466340KCNA5c.1372G>C (p.Asp458His)
12g.5045519G>TCA383466341KCNA5c.1372G>T (p.Asp458Tyr)
12g.5045520A>CCA383466342KCNA5c.1373A>C (p.Asp458Ala)
12g.5045520A>GCA383466343KCNA5c.1373A>G (p.Asp458Gly)
12g.5045520A>TCA383466344KCNA5c.1373A>T (p.Asp458Val)
12g.5045521C>ACA383466345KCNA5c.1374C>A (p.Asp458Glu)
12g.5045521C>GCA383466346KCNA5c.1374C>G (p.Asp458Glu)
12g.5045521C>TCA478095834KCNA5c.1374C>T (p.Asp458=)
gnomAD v4
12g.5045521_5045522insGCA944256451KCNA5c.1374_1375insG (p.Asn459GlufsTer8)
gnomAD v3 gnomAD v4
12g.5045522A>CCA383466347KCNA5c.1375A>C (p.Asn459His)
12g.5045522A>GCA383466348KCNA5c.1375A>G (p.Asn459Asp)
ClinVar gnomAD v4
12g.5045522A>TCA383466349KCNA5c.1375A>T (p.Asn459Tyr)
COSMIC
12g.5045522_5045523insTGCA944256454KCNA5c.1375_1376insTG (p.Asn459MetfsTer21)
gnomAD v3 gnomAD v4
12g.5045523A>CCA383466350KCNA5c.1376A>C (p.Asn459Thr)
12g.5045523A>GCA383466351KCNA5c.1376A>G (p.Asn459Ser)
12g.5045523A>TCA383466352KCNA5c.1376A>T (p.Asn459Ile)
12g.5045524C>ACA383466353KCNA5c.1377C>A (p.Asn459Lys)
12g.5045524C>GCA383466354KCNA5c.1377C>G (p.Asn459Lys)
12g.5045524C>TCA478095836KCNA5c.1377C>T (p.Asn459=)
ClinVar gnomAD v4
12g.5045527_5045535delCA2617209925KCNA5c.1380_1388del (p.Gln460_Thr462del)
gnomAD v4
12g.5045525C>ACA231868887KCNA5c.1378C>A (p.Gln460Lys)
dbSNP gnomAD v2 gnomAD v4
12g.5045525C=CA2013431266KCNA5c.1378C= (p.Gln460=)
12g.5045525C>GCA383466355KCNA5c.1378C>G (p.Gln460Glu)
12g.5045525C>TCA383466356KCNA5c.1378C>T (p.Gln460Ter)
12g.5045525_5045528delCA944256457KCNA5c.1378_1381del (p.Gln460GlufsTer18)
gnomAD v3 gnomAD v4
12g.5045526A>CCA383466358KCNA5c.1379A>C (p.Gln460Pro)
12g.5045526A>GCA383466359KCNA5c.1379A>G (p.Gln460Arg)
12g.5045526A>TCA383466357KCNA5c.1379A>T (p.Gln460Leu)
12g.5045527G>ACA478095838KCNA5c.1380G>A (p.Gln460=)
gnomAD v4
12g.5045527G>CCA383466360KCNA5c.1380G>C (p.Gln460His)
12g.5045527G>TCA383466361KCNA5c.1380G>T (p.Gln460His)
12g.5045528G>ACA383466362KCNA5c.1381G>A (p.Gly461Arg)
COSMIC
12g.5045528G>CCA383466363KCNA5c.1381G>C (p.Gly461Arg)
12g.5045528G>TCA383466364KCNA5c.1381G>T (p.Gly461Ter)
12g.5045529G>ACA383466365KCNA5c.1382G>A (p.Gly461Glu)
gnomAD v4
12g.5045529G>CCA383466366KCNA5c.1382G>C (p.Gly461Ala)
dbSNP
12g.5045529G>TCA383466367KCNA5c.1382G>T (p.Gly461Val)
12g.5045530A>CCA478095842KCNA5c.1383A>C (p.Gly461=)
dbSNP
12g.5045530A>GCA478095843KCNA5c.1383A>G (p.Gly461=)
gnomAD v3 gnomAD v4
12g.5045530A>TCA478095844KCNA5c.1383A>T (p.Gly461=)
12g.5045531A>CCA383466368KCNA5c.1384A>C (p.Thr462Pro)
12g.5045531A>GCA383466369KCNA5c.1384A>G (p.Thr462Ala)
12g.5045531A>TCA383466370KCNA5c.1384A>T (p.Thr462Ser)
12g.5045531_5045536delCA944256458KCNA5c.1384_1389del (p.Thr462_His463del)
gnomAD v3 gnomAD v4
12g.5045532C>ACA383466372KCNA5c.1385C>A (p.Thr462Asn)
12g.5045532C>GCA383466373KCNA5c.1385C>G (p.Thr462Ser)
12g.5045532C>TCA383466371KCNA5c.1385C>T (p.Thr462Ile)
12g.5045533C>ACA478095846KCNA5c.1386C>A (p.Thr462=)
gnomAD v4
12g.5045533C=CA2013431267KCNA5c.1386C= (p.Thr462=)
12g.5045533C>GCA6399859KCNA5c.1386C>G (p.Thr462=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.5045533C>TCA6399858KCNA5c.1386C>T (p.Thr462=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5045534C>ACA383466374KCNA5c.1387C>A (p.His463Asn)
12g.5045534C>GCA383466375KCNA5c.1387C>G (p.His463Asp)
12g.5045534C>TCA383466376KCNA5c.1387C>T (p.His463Tyr)
12g.5045535A=CA2013431268KCNA5c.1388A= (p.His463=)
12g.5045535A>CCA383466378KCNA5c.1388A>C (p.His463Pro)
12g.5045535A>GCA383466377KCNA5c.1388A>G (p.His463Arg)
12g.5045535A>TCA6399860KCNA5c.1388A>T (p.His463Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.5045536T>ACA383466379KCNA5c.1389T>A (p.His463Gln)
12g.5045536T>CCA6399861KCNA5c.1389T>C (p.His463=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.5045536T>GCA383466380KCNA5c.1389T>G (p.His463Gln)
12g.5045536T=CA2013431269KCNA5c.1389T= (p.His463=)
12g.5045537T>ACA383466381KCNA5c.1390T>A (p.Phe464Ile)
12g.5045537T>CCA383466382KCNA5c.1390T>C (p.Phe464Leu)
12g.5045537T>GCA383466383KCNA5c.1390T>G (p.Phe464Val)
12g.5045538T>ACA383466385KCNA5c.1391T>A (p.Phe464Tyr)
12g.5045538T>CCA383466386KCNA5c.1391T>C (p.Phe464Ser)
12g.5045538T>GCA383466384KCNA5c.1391T>G (p.Phe464Cys)
12g.5045539C>ACA383466388KCNA5c.1392C>A (p.Phe464Leu)
gnomAD v4 COSMIC
12g.5045539C=CA2013431270KCNA5c.1392C= (p.Phe464=)
12g.5045539C>GCA383466387KCNA5c.1392C>G (p.Phe464Leu)
12g.5045539C>TCA478095854KCNA5c.1392C>T (p.Phe464=)
dbSNP gnomAD v4
12g.5045540T>ACA383466389KCNA5c.1393T>A (p.Ser465Thr)
12g.5045540T>CCA383466390KCNA5c.1393T>C (p.Ser465Pro)
12g.5045540T>GCA383466391KCNA5c.1393T>G (p.Ser465Ala)
dbSNP gnomAD v3 gnomAD v4
12g.5045540T=CA2013431271KCNA5c.1393T= (p.Ser465=)
12g.5045541C>ACA383466392KCNA5c.1394C>A (p.Ser465Tyr)
12g.5045541C=CA2013431272KCNA5c.1394C= (p.Ser465=)
12g.5045541C>GCA6399862KCNA5c.1394C>G (p.Ser465Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.5045541C>TCA383466393KCNA5c.1394C>T (p.Ser465Phe)
dbSNP gnomAD v4 COSMIC
12g.5045542T>ACA478095856KCNA5c.1395T>A (p.Ser465=)
12g.5045542T>CCA478095857KCNA5c.1395T>C (p.Ser465=)
12g.5045542T>GCA478095858KCNA5c.1395T>G (p.Ser465=)
12g.5045542T=CA2013431273KCNA5c.1395T= (p.Ser465=)
12g.5045542_5045543insTTTTCCCCA944256463KCNA5c.1395_1396insTTTTCCC (p.Ser466PhefsTer6)
dbSNP gnomAD v3 gnomAD v4
12g.5045543A>CCA383466394KCNA5c.1396A>C (p.Ser466Arg)
12g.5045543A>GCA383466395KCNA5c.1396A>G (p.Ser466Gly)
12g.5045543A>TCA383466396KCNA5c.1396A>T (p.Ser466Cys)
gnomAD v4
12g.5045544G>ACA383466397KCNA5c.1397G>A (p.Ser466Asn)
gnomAD v4
12g.5045544G>CCA383466398KCNA5c.1397G>C (p.Ser466Thr)
gnomAD v4
12g.5045544G>TCA383466399KCNA5c.1397G>T (p.Ser466Ile)
12g.5045545C>ACA383466401KCNA5c.1398C>A (p.Ser466Arg)
12g.5045545C>GCA383466400KCNA5c.1398C>G (p.Ser466Arg)
12g.5045545C>TCA478095862KCNA5c.1398C>T (p.Ser466=)
12g.5045546A>CCA383466402KCNA5c.1399A>C (p.Ile467Leu)
12g.5045546A>GCA383466403KCNA5c.1399A>G (p.Ile467Val)
12g.5045546A>TCA383466404KCNA5c.1399A>T (p.Ile467Phe)
12g.5045547T>ACA383466405KCNA5c.1400T>A (p.Ile467Asn)
12g.5045547T>CCA6399863KCNA5c.1400T>C (p.Ile467Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5045547T>GCA383466406KCNA5c.1400T>G (p.Ile467Ser)
12g.5045547T=CA2013431274KCNA5c.1400T= (p.Ile467=)
12g.5045548C>ACA478095865KCNA5c.1401C>A (p.Ile467=)
dbSNP
12g.5045548C=CA2013431275KCNA5c.1401C= (p.Ile467=)
12g.5045548C>GCA383466407KCNA5c.1401C>G (p.Ile467Met)
12g.5045548C>TCA478095869KCNA5c.1401C>T (p.Ile467=)
12g.5045549C>ACA383466408KCNA5c.1402C>A (p.Pro468Thr)
12g.5045549C>GCA383466409KCNA5c.1402C>G (p.Pro468Ala)
12g.5045549C>TCA383466410KCNA5c.1402C>T (p.Pro468Ser)
gnomAD v4
12g.5045550C>ACA383466411KCNA5c.1403C>A (p.Pro468His)
12g.5045550C>GCA383466412KCNA5c.1403C>G (p.Pro468Arg)
12g.5045550C>TCA383466413KCNA5c.1403C>T (p.Pro468Leu)
gnomAD v4

Number of alleles fetched