12 | g.5045445A>C | CA383466184 | KCNA5 | c.1298A>C (p.Glu433Ala)
| gnomAD v4 |
12 | g.5045445A>G | CA383466185 | KCNA5 | c.1298A>G (p.Glu433Gly)
| |
12 | g.5045445A>T | CA383466183 | KCNA5 | c.1298A>T (p.Glu433Val)
| |
12 | g.5045446G>A | CA6399843 | KCNA5 | c.1299G>A (p.Glu433=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045446G>C | CA383466186 | KCNA5 | c.1299G>C (p.Glu433Asp)
| |
12 | g.5045446G= | CA2013431237 | KCNA5 | c.1299G= (p.Glu433=)
| |
12 | g.5045446G>T | CA383466187 | KCNA5 | c.1299G>T (p.Glu433Asp)
| dbSNP gnomAD v2 |
12 | g.5045447C>A | CA383466188 | KCNA5 | c.1300C>A (p.Leu434Met)
| |
12 | g.5045447C>G | CA383466189 | KCNA5 | c.1300C>G (p.Leu434Val)
| |
12 | g.5045447C>T | CA478095742 | KCNA5 | c.1300C>T (p.Leu434=)
| gnomAD v4 |
12 | g.5045448T>A | CA383466190 | KCNA5 | c.1301T>A (p.Leu434Gln)
| |
12 | g.5045448T>C | CA383466191 | KCNA5 | c.1301T>C (p.Leu434Pro)
| dbSNP COSMIC |
12 | g.5045448T>G | CA383466192 | KCNA5 | c.1301T>G (p.Leu434Arg)
| |
12 | g.5045448T= | CA2013431238 | KCNA5 | c.1301T= (p.Leu434=)
| |
12 | g.5045449G>A | CA478095743 | KCNA5 | c.1302G>A (p.Leu434=)
| |
12 | g.5045449G>C | CA478095744 | KCNA5 | c.1302G>C (p.Leu434=)
| |
12 | g.5045449G>T | CA478095745 | KCNA5 | c.1302G>T (p.Leu434=)
| |
12 | g.5045450G>A | CA383466193 | KCNA5 | c.1303G>A (p.Gly435Arg)
| ClinVar dbSNP gnomAD v4 |
12 | g.5045450G>C | CA383466194 | KCNA5 | c.1303G>C (p.Gly435Arg)
| |
12 | g.5045450G= | CA2013431239 | KCNA5 | c.1303G= (p.Gly435=)
| |
12 | g.5045450G>T | CA383466195 | KCNA5 | c.1303G>T (p.Gly435Trp)
| |
12 | g.5045451G>A | CA383466196 | KCNA5 | c.1304G>A (p.Gly435Glu)
| |
12 | g.5045451G>C | CA383466197 | KCNA5 | c.1304G>C (p.Gly435Ala)
| |
12 | g.5045451G>T | CA383466198 | KCNA5 | c.1304G>T (p.Gly435Val)
| |
12 | g.5045452G>A | CA478095748 | KCNA5 | c.1305G>A (p.Gly435=)
| dbSNP gnomAD v4 |
12 | g.5045452G>C | CA478095747 | KCNA5 | c.1305G>C (p.Gly435=)
| |
12 | g.5045452G= | CA2013431240 | KCNA5 | c.1305G= (p.Gly435=)
| |
12 | g.5045452G>T | CA478095746 | KCNA5 | c.1305G>T (p.Gly435=)
| |
12 | g.5045453C>A | CA383466199 | KCNA5 | c.1306C>A (p.Leu436Met)
| |
12 | g.5045453C>G | CA383466200 | KCNA5 | c.1306C>G (p.Leu436Val)
| |
12 | g.5045453C>T | CA478095749 | KCNA5 | c.1306C>T (p.Leu436=)
| |
12 | g.5045454T>A | CA383466201 | KCNA5 | c.1307T>A (p.Leu436Gln)
| |
12 | g.5045454T>C | CA383466202 | KCNA5 | c.1307T>C (p.Leu436Pro)
| |
12 | g.5045454T>G | CA231868793 | KCNA5 | c.1307T>G (p.Leu436Arg)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045454T= | CA2013431241 | KCNA5 | c.1307T= (p.Leu436=)
| |
12 | g.5045455G>A | CA478095750 | KCNA5 | c.1308G>A (p.Leu436=)
| |
12 | g.5045455G>C | CA478095751 | KCNA5 | c.1308G>C (p.Leu436=)
| |
12 | g.5045455G= | CA2013431242 | KCNA5 | c.1308G= (p.Leu436=)
| |
12 | g.5045455G>T | CA478095752 | KCNA5 | c.1308G>T (p.Leu436=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045456C>A | CA383466203 | KCNA5 | c.1309C>A (p.Leu437Ile)
| |
12 | g.5045456C>G | CA383466204 | KCNA5 | c.1309C>G (p.Leu437Val)
| |
12 | g.5045456C>T | CA383466205 | KCNA5 | c.1309C>T (p.Leu437Phe)
| |
12 | g.5045457T>A | CA383466206 | KCNA5 | c.1310T>A (p.Leu437His)
| |
12 | g.5045457T>C | CA383466207 | KCNA5 | c.1310T>C (p.Leu437Pro)
| ClinVar |
12 | g.5045457T>G | CA383466208 | KCNA5 | c.1310T>G (p.Leu437Arg)
| |
12 | g.5045458C>A | CA478095754 | KCNA5 | c.1311C>A (p.Leu437=)
| |
12 | g.5045458C>G | CA478095755 | KCNA5 | c.1311C>G (p.Leu437=)
| |
12 | g.5045458C>T | CA478095753 | KCNA5 | c.1311C>T (p.Leu437=)
| |
12 | g.5045459A= | CA2013431244 | KCNA5 | c.1312A= (p.Ile438=)
| |
12 | g.5045459A>C | CA383466209 | KCNA5 | c.1312A>C (p.Ile438Leu)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045459A>G | CA6399844 | KCNA5 | c.1312A>G (p.Ile438Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045459A>T | CA383466210 | KCNA5 | c.1312A>T (p.Ile438Phe)
| |
12 | g.5045459_5045462delinsATCT | CA2013431243 | KCNA5 | c.1312_1315delinsATCT (p.Ile438=)
| |
12 | g.5045460T>A | CA383466212 | KCNA5 | c.1313T>A (p.Ile438Asn)
| gnomAD v4 |
12 | g.5045460T>C | CA383466213 | KCNA5 | c.1313T>C (p.Ile438Thr)
| dbSNP |
12 | g.5045460T>G | CA383466211 | KCNA5 | c.1313T>G (p.Ile438Ser)
| |
12 | g.5045460T= | CA2013431245 | KCNA5 | c.1313T= (p.Ile438=)
| |
12 | g.5045465_5045467del | CA6399845 | KCNA5 | c.1318_1320del (p.Phe440del)
| dbSNP ExAC |
12 | g.5045461C>A | CA478095756 | KCNA5 | c.1314C>A (p.Ile438=)
| |
12 | g.5045461C>G | CA383466214 | KCNA5 | c.1314C>G (p.Ile438Met)
| gnomAD v4 |
12 | g.5045461C>T | CA478095757 | KCNA5 | c.1314C>T (p.Ile438=)
| |
12 | g.5045462T>A | CA383466215 | KCNA5 | c.1315T>A (p.Phe439Ile)
| |
12 | g.5045462T>C | CA383466216 | KCNA5 | c.1315T>C (p.Phe439Leu)
| |
12 | g.5045462T>G | CA383466217 | KCNA5 | c.1315T>G (p.Phe439Val)
| |
12 | g.5045463T>A | CA383466218 | KCNA5 | c.1316T>A (p.Phe439Tyr)
| |
12 | g.5045463T>C | CA383466219 | KCNA5 | c.1316T>C (p.Phe439Ser)
| |
12 | g.5045463T>G | CA383466220 | KCNA5 | c.1316T>G (p.Phe439Cys)
| |
12 | g.5045464C>A | CA383466221 | KCNA5 | c.1317C>A (p.Phe439Leu)
| |
12 | g.5045464C>G | CA383466222 | KCNA5 | c.1317C>G (p.Phe439Leu)
| |
12 | g.5045464C>T | CA478095758 | KCNA5 | c.1317C>T (p.Phe439=)
| ClinVar gnomAD v4 |
12 | g.5045465T>A | CA383466223 | KCNA5 | c.1318T>A (p.Phe440Ile)
| |
12 | g.5045465T>C | CA383466224 | KCNA5 | c.1318T>C (p.Phe440Leu)
| |
12 | g.5045465T>G | CA383466225 | KCNA5 | c.1318T>G (p.Phe440Val)
| |
12 | g.5045466T>A | CA383466226 | KCNA5 | c.1319T>A (p.Phe440Tyr)
| |
12 | g.5045466T>C | CA383466227 | KCNA5 | c.1319T>C (p.Phe440Ser)
| |
12 | g.5045466T>G | CA383466228 | KCNA5 | c.1319T>G (p.Phe440Cys)
| |
12 | g.5045467C>A | CA383466229 | KCNA5 | c.1320C>A (p.Phe440Leu)
| |
12 | g.5045467C>G | CA383466230 | KCNA5 | c.1320C>G (p.Phe440Leu)
| |
12 | g.5045467C>T | CA478095759 | KCNA5 | c.1320C>T (p.Phe440=)
| COSMIC |
12 | g.5045468C>A | CA383466231 | KCNA5 | c.1321C>A (p.Leu441Ile)
| |
12 | g.5045468C>G | CA383466232 | KCNA5 | c.1321C>G (p.Leu441Val)
| dbSNP |
12 | g.5045468C>T | CA383466233 | KCNA5 | c.1321C>T (p.Leu441Phe)
| gnomAD v4 |
12 | g.5045469T>A | CA383466234 | KCNA5 | c.1322T>A (p.Leu441His)
| |
12 | g.5045469T>C | CA383466235 | KCNA5 | c.1322T>C (p.Leu441Pro)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045469T>G | CA383466236 | KCNA5 | c.1322T>G (p.Leu441Arg)
| |
12 | g.5045469T= | CA2013431246 | KCNA5 | c.1322T= (p.Leu441=)
| |
12 | g.5045470C>A | CA478095760 | KCNA5 | c.1323C>A (p.Leu441=)
| |
12 | g.5045470C= | CA2013431247 | KCNA5 | c.1323C= (p.Leu441=)
| |
12 | g.5045470C>G | CA478095761 | KCNA5 | c.1323C>G (p.Leu441=)
| |
12 | g.5045470C>T | CA478095762 | KCNA5 | c.1323C>T (p.Leu441=)
| dbSNP |
12 | g.5045471T>A | CA383466237 | KCNA5 | c.1324T>A (p.Phe442Ile)
| |
12 | g.5045471T>C | CA383466238 | KCNA5 | c.1324T>C (p.Phe442Leu)
| gnomAD v4 |
12 | g.5045471T>G | CA383466239 | KCNA5 | c.1324T>G (p.Phe442Val)
| |
12 | g.5045472T>A | CA383466240 | KCNA5 | c.1325T>A (p.Phe442Tyr)
| |
12 | g.5045472T>C | CA383466241 | KCNA5 | c.1325T>C (p.Phe442Ser)
| |
12 | g.5045472T>G | CA383466242 | KCNA5 | c.1325T>G (p.Phe442Cys)
| |
12 | g.5045473C>A | CA383466244 | KCNA5 | c.1326C>A (p.Phe442Leu)
| |
12 | g.5045473C>G | CA383466243 | KCNA5 | c.1326C>G (p.Phe442Leu)
| |
12 | g.5045473C>T | CA478095765 | KCNA5 | c.1326C>T (p.Phe442=)
| |
12 | g.5045474A= | CA2013431248 | KCNA5 | c.1327A= (p.Ile443=)
| |
12 | g.5045474A>C | CA383466245 | KCNA5 | c.1327A>C (p.Ile443Leu)
| |
12 | g.5045474A>G | CA6399846 | KCNA5 | c.1327A>G (p.Ile443Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045474A>T | CA383466246 | KCNA5 | c.1327A>T (p.Ile443Phe)
| |
12 | g.5045475T>A | CA383466247 | KCNA5 | c.1328T>A (p.Ile443Asn)
| |
12 | g.5045475T>C | CA383466248 | KCNA5 | c.1328T>C (p.Ile443Thr)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045475T>G | CA383466249 | KCNA5 | c.1328T>G (p.Ile443Ser)
| |
12 | g.5045475T= | CA2013431249 | KCNA5 | c.1328T= (p.Ile443=)
| |
12 | g.5045476C>A | CA6399848 | KCNA5 | c.1329C>A (p.Ile443=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045476C= | CA2013431250 | KCNA5 | c.1329C= (p.Ile443=)
| |
12 | g.5045476C>G | CA6399849 | KCNA5 | c.1329C>G (p.Ile443Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045476C>T | CA6399847 | KCNA5 | c.1329C>T (p.Ile443=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5045477G>A | CA383466250 | KCNA5 | c.1330G>A (p.Gly444Arg)
| gnomAD v4 |
12 | g.5045477G>C | CA383466251 | KCNA5 | c.1330G>C (p.Gly444Arg)
| gnomAD v4 |
12 | g.5045477G>T | CA383466252 | KCNA5 | c.1330G>T (p.Gly444Trp)
| |
12 | g.5045480dup | CA944256437 | KCNA5 | c.1333dup (p.Val445GlyfsTer14)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045478G>A | CA383466253 | KCNA5 | c.1331G>A (p.Gly444Glu)
| |
12 | g.5045478G>C | CA383466254 | KCNA5 | c.1331G>C (p.Gly444Ala)
| |
12 | g.5045478G>T | CA383466255 | KCNA5 | c.1331G>T (p.Gly444Val)
| |
12 | g.5045479G>A | CA478095773 | KCNA5 | c.1332G>A (p.Gly444=)
| dbSNP gnomAD v4 |
12 | g.5045479G>C | CA478095774 | KCNA5 | c.1332G>C (p.Gly444=)
| |
12 | g.5045479G= | CA2013431251 | KCNA5 | c.1332G= (p.Gly444=)
| |
12 | g.5045479G>T | CA478095775 | KCNA5 | c.1332G>T (p.Gly444=)
| |
12 | g.5045480G>A | CA383466256 | KCNA5 | c.1333G>A (p.Val445Ile)
| |
12 | g.5045480G>C | CA383466258 | KCNA5 | c.1333G>C (p.Val445Leu)
| |
12 | g.5045480G>T | CA383466257 | KCNA5 | c.1333G>T (p.Val445Phe)
| gnomAD v4 |
12 | g.5045481T>A | CA383466259 | KCNA5 | c.1334T>A (p.Val445Asp)
| |
12 | g.5045481T>C | CA383466260 | KCNA5 | c.1334T>C (p.Val445Ala)
| |
12 | g.5045481T>G | CA383466261 | KCNA5 | c.1334T>G (p.Val445Gly)
| |
12 | g.5045482C>A | CA478095779 | KCNA5 | c.1335C>A (p.Val445=)
| |
12 | g.5045482C>G | CA478095778 | KCNA5 | c.1335C>G (p.Val445=)
| |
12 | g.5045482C>T | CA478095776 | KCNA5 | c.1335C>T (p.Val445=)
| gnomAD v4 |
12 | g.5045483A= | CA2013431252 | KCNA5 | c.1336A= (p.Ile446=)
| |
12 | g.5045483A>C | CA383466262 | KCNA5 | c.1336A>C (p.Ile446Leu)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045483A>G | CA383466263 | KCNA5 | c.1336A>G (p.Ile446Val)
| |
12 | g.5045483A>T | CA383466264 | KCNA5 | c.1336A>T (p.Ile446Phe)
| |
12 | g.5045484T>A | CA383466265 | KCNA5 | c.1337T>A (p.Ile446Asn)
| |
12 | g.5045484T>C | CA383466266 | KCNA5 | c.1337T>C (p.Ile446Thr)
| |
12 | g.5045484T>G | CA383466267 | KCNA5 | c.1337T>G (p.Ile446Ser)
| |
12 | g.5045485C>A | CA478095780 | KCNA5 | c.1338C>A (p.Ile446=)
| gnomAD v4 |
12 | g.5045485C= | CA2013431253 | KCNA5 | c.1338C= (p.Ile446=)
| |
12 | g.5045485C>G | CA383466268 | KCNA5 | c.1338C>G (p.Ile446Met)
| |
12 | g.5045485C>T | CA478095781 | KCNA5 | c.1338C>T (p.Ile446=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045486C>A | CA383466269 | KCNA5 | c.1339C>A (p.Leu447Ile)
| |
12 | g.5045486C>G | CA383466270 | KCNA5 | c.1339C>G (p.Leu447Val)
| |
12 | g.5045486C>T | CA383466271 | KCNA5 | c.1339C>T (p.Leu447Phe)
| |
12 | g.5045487T>A | CA383466273 | KCNA5 | c.1340T>A (p.Leu447His)
| |
12 | g.5045487T>C | CA383466274 | KCNA5 | c.1340T>C (p.Leu447Pro)
| |
12 | g.5045487T>G | CA383466272 | KCNA5 | c.1340T>G (p.Leu447Arg)
| |
12 | g.5045488C>A | CA6399850 | KCNA5 | c.1341C>A (p.Leu447=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045488C= | CA2013431254 | KCNA5 | c.1341C= (p.Leu447=)
| |
12 | g.5045488C>G | CA478095798 | KCNA5 | c.1341C>G (p.Leu447=)
| |
12 | g.5045488C>T | CA478095794 | KCNA5 | c.1341C>T (p.Leu447=)
| gnomAD v4 |
12 | g.5045489T>A | CA383466275 | KCNA5 | c.1342T>A (p.Phe448Ile)
| |
12 | g.5045489T>C | CA383466277 | KCNA5 | c.1342T>C (p.Phe448Leu)
| |
12 | g.5045489T>G | CA383466276 | KCNA5 | c.1342T>G (p.Phe448Val)
| |
12 | g.5045490T>A | CA383466278 | KCNA5 | c.1343T>A (p.Phe448Tyr)
| |
12 | g.5045490T>C | CA383466280 | KCNA5 | c.1343T>C (p.Phe448Ser)
| |
12 | g.5045490T>G | CA383466279 | KCNA5 | c.1343T>G (p.Phe448Cys)
| |
12 | g.5045491C>A | CA383466281 | KCNA5 | c.1344C>A (p.Phe448Leu)
| |
12 | g.5045491C>G | CA383466282 | KCNA5 | c.1344C>G (p.Phe448Leu)
| |
12 | g.5045491C>T | CA478095801 | KCNA5 | c.1344C>T (p.Phe448=)
| |
12 | g.5045492T>A | CA383466283 | KCNA5 | c.1345T>A (p.Ser449Thr)
| |
12 | g.5045492T>C | CA383466284 | KCNA5 | c.1345T>C (p.Ser449Pro)
| COSMIC |
12 | g.5045492T>G | CA383466285 | KCNA5 | c.1345T>G (p.Ser449Ala)
| |
12 | g.5045493C>A | CA383466286 | KCNA5 | c.1346C>A (p.Ser449Tyr)
| |
12 | g.5045493C>G | CA383466287 | KCNA5 | c.1346C>G (p.Ser449Cys)
| |
12 | g.5045493C>T | CA383466288 | KCNA5 | c.1346C>T (p.Ser449Phe)
| |
12 | g.5045494C>A | CA478095803 | KCNA5 | c.1347C>A (p.Ser449=)
| |
12 | g.5045494C= | CA2013431255 | KCNA5 | c.1347C= (p.Ser449=)
| |
12 | g.5045494C>G | CA478095806 | KCNA5 | c.1347C>G (p.Ser449=)
| |
12 | g.5045494C>T | CA478095804 | KCNA5 | c.1347C>T (p.Ser449=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045495A>C | CA383466289 | KCNA5 | c.1348A>C (p.Ser450Arg)
| |
12 | g.5045495A>G | CA383466290 | KCNA5 | c.1348A>G (p.Ser450Gly)
| |
12 | g.5045495A>T | CA383466291 | KCNA5 | c.1348A>T (p.Ser450Cys)
| |
12 | g.5045496G>A | CA6399851 | KCNA5 | c.1349G>A (p.Ser450Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045496G>C | CA6399852 | KCNA5 | c.1349G>C (p.Ser450Thr)
| dbSNP ExAC gnomAD v2 |
12 | g.5045496G= | CA2013431256 | KCNA5 | c.1349G= (p.Ser450=)
| |
12 | g.5045496G>T | CA383466292 | KCNA5 | c.1349G>T (p.Ser450Ile)
| |
12 | g.5045497T>A | CA383466294 | KCNA5 | c.1350T>A (p.Ser450Arg)
| |
12 | g.5045497T>C | CA478095808 | KCNA5 | c.1350T>C (p.Ser450=)
| |
12 | g.5045497T>G | CA383466293 | KCNA5 | c.1350T>G (p.Ser450Arg)
| |
12 | g.5045498G>A | CA383466295 | KCNA5 | c.1351G>A (p.Ala451Thr)
| |
12 | g.5045498G>C | CA383466296 | KCNA5 | c.1351G>C (p.Ala451Pro)
| |
12 | g.5045498G>T | CA383466297 | KCNA5 | c.1351G>T (p.Ala451Ser)
| |
12 | g.5045499C>A | CA383466298 | KCNA5 | c.1352C>A (p.Ala451Asp)
| |
12 | g.5045499C>G | CA383466299 | KCNA5 | c.1352C>G (p.Ala451Gly)
| |
12 | g.5045499C>T | CA383466300 | KCNA5 | c.1352C>T (p.Ala451Val)
| gnomAD v4 |
12 | g.5045500C>A | CA478095812 | KCNA5 | c.1353C>A (p.Ala451=)
| |
12 | g.5045500C= | CA2013431257 | KCNA5 | c.1353C= (p.Ala451=)
| |
12 | g.5045500C>G | CA6399853 | KCNA5 | c.1353C>G (p.Ala451=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045500C>T | CA6399854 | KCNA5 | c.1353C>T (p.Ala451=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045501G>A | CA383466301 | KCNA5 | c.1354G>A (p.Val452Ile)
| ClinVar dbSNP gnomAD v4 |
12 | g.5045501G>C | CA383466302 | KCNA5 | c.1354G>C (p.Val452Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045501G= | CA2013431258 | KCNA5 | c.1354G= (p.Val452=)
| |
12 | g.5045501G>T | CA383466303 | KCNA5 | c.1354G>T (p.Val452Phe)
| |
12 | g.5045502T>A | CA383466306 | KCNA5 | c.1355T>A (p.Val452Asp)
| |
12 | g.5045502T>C | CA383466305 | KCNA5 | c.1355T>C (p.Val452Ala)
| |
12 | g.5045502T>G | CA383466304 | KCNA5 | c.1355T>G (p.Val452Gly)
| |
12 | g.5045503C>A | CA478095814 | KCNA5 | c.1356C>A (p.Val452=)
| |
12 | g.5045503C= | CA2013431259 | KCNA5 | c.1356C= (p.Val452=)
| |
12 | g.5045503C>G | CA478095816 | KCNA5 | c.1356C>G (p.Val452=)
| |
12 | g.5045503C>T | CA478095818 | KCNA5 | c.1356C>T (p.Val452=)
| dbSNP |
12 | g.5045504T>A | CA383466307 | KCNA5 | c.1357T>A (p.Tyr453Asn)
| |
12 | g.5045504T>C | CA383466308 | KCNA5 | c.1357T>C (p.Tyr453His)
| |
12 | g.5045504T>G | CA383466309 | KCNA5 | c.1357T>G (p.Tyr453Asp)
| |
12 | g.5045505A= | CA2013431260 | KCNA5 | c.1358A= (p.Tyr453=)
| |
12 | g.5045505A>C | CA383466310 | KCNA5 | c.1358A>C (p.Tyr453Ser)
| |
12 | g.5045505A>G | CA231868855 | KCNA5 | c.1358A>G (p.Tyr453Cys)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045505A>T | CA383466311 | KCNA5 | c.1358A>T (p.Tyr453Phe)
| |
12 | g.5045506C>A | CA383466312 | KCNA5 | c.1359C>A (p.Tyr453Ter)
| |
12 | g.5045506C>G | CA383466313 | KCNA5 | c.1359C>G (p.Tyr453Ter)
| |
12 | g.5045506C>T | CA478095820 | KCNA5 | c.1359C>T (p.Tyr453=)
| |
12 | g.5045507T>A | CA383466314 | KCNA5 | c.1360T>A (p.Phe454Ile)
| |
12 | g.5045507T>C | CA383466315 | KCNA5 | c.1360T>C (p.Phe454Leu)
| |
12 | g.5045507T>G | CA383466316 | KCNA5 | c.1360T>G (p.Phe454Val)
| |
12 | g.5045508T>A | CA383466319 | KCNA5 | c.1361T>A (p.Phe454Tyr)
| |
12 | g.5045508T>C | CA383466318 | KCNA5 | c.1361T>C (p.Phe454Ser)
| |
12 | g.5045508T>G | CA383466317 | KCNA5 | c.1361T>G (p.Phe454Cys)
| |
12 | g.5045509C>A | CA383466320 | KCNA5 | c.1362C>A (p.Phe454Leu)
| |
12 | g.5045509C= | CA2013431261 | KCNA5 | c.1362C= (p.Phe454=)
| |
12 | g.5045509C>G | CA383466321 | KCNA5 | c.1362C>G (p.Phe454Leu)
| gnomAD v4 |
12 | g.5045509C>T | CA6399855 | KCNA5 | c.1362C>T (p.Phe454=)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.5045510G>A | CA6399856 | KCNA5 | c.1363G>A (p.Ala455Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5045510G>C | CA383466322 | KCNA5 | c.1363G>C (p.Ala455Pro)
| |
12 | g.5045510G= | CA2013431262 | KCNA5 | c.1363G= (p.Ala455=)
| |
12 | g.5045510G>T | CA383466323 | KCNA5 | c.1363G>T (p.Ala455Ser)
| dbSNP |
12 | g.5045511C>A | CA383466324 | KCNA5 | c.1364C>A (p.Ala455Glu)
| |
12 | g.5045511C>G | CA383466325 | KCNA5 | c.1364C>G (p.Ala455Gly)
| |
12 | g.5045511C>T | CA383466326 | KCNA5 | c.1364C>T (p.Ala455Val)
| |
12 | g.5045512A= | CA2013431263 | KCNA5 | c.1365A= (p.Ala455=)
| |
12 | g.5045512A>C | CA478095821 | KCNA5 | c.1365A>C (p.Ala455=)
| |
12 | g.5045512A>G | CA478095822 | KCNA5 | c.1365A>G (p.Ala455=)
| gnomAD v4 |
12 | g.5045512A>T | CA478095823 | KCNA5 | c.1365A>T (p.Ala455=)
| dbSNP gnomAD v4 |
12 | g.5045513G>A | CA383466327 | KCNA5 | c.1366G>A (p.Glu456Lys)
| |
12 | g.5045513G>C | CA383466328 | KCNA5 | c.1366G>C (p.Glu456Gln)
| |
12 | g.5045513G>T | CA383466329 | KCNA5 | c.1366G>T (p.Glu456Ter)
| |
12 | g.5045514A>C | CA383466332 | KCNA5 | c.1367A>C (p.Glu456Ala)
| |
12 | g.5045514A>G | CA383466331 | KCNA5 | c.1367A>G (p.Glu456Gly)
| |
12 | g.5045514A>T | CA383466330 | KCNA5 | c.1367A>T (p.Glu456Val)
| |
12 | g.5045515G>A | CA478095824 | KCNA5 | c.1368G>A (p.Glu456=)
| |
12 | g.5045515G>C | CA231868869 | KCNA5 | c.1368G>C (p.Glu456Asp)
| dbSNP |
12 | g.5045515G= | CA2013431264 | KCNA5 | c.1368G= (p.Glu456=)
| |
12 | g.5045515G>T | CA383466333 | KCNA5 | c.1368G>T (p.Glu456Asp)
| |
12 | g.5045516G>A | CA383466334 | KCNA5 | c.1369G>A (p.Ala457Thr)
| |
12 | g.5045516G>C | CA383466335 | KCNA5 | c.1369G>C (p.Ala457Pro)
| gnomAD v4 |
12 | g.5045516G>T | CA383466336 | KCNA5 | c.1369G>T (p.Ala457Ser)
| |
12 | g.5045517C>A | CA383466337 | KCNA5 | c.1370C>A (p.Ala457Asp)
| |
12 | g.5045517C= | CA2013431265 | KCNA5 | c.1370C= (p.Ala457=)
| |
12 | g.5045517C>G | CA383466338 | KCNA5 | c.1370C>G (p.Ala457Gly)
| |
12 | g.5045517C>T | CA6399857 | KCNA5 | c.1370C>T (p.Ala457Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045518T>A | CA478095828 | KCNA5 | c.1371T>A (p.Ala457=)
| gnomAD v4 |
12 | g.5045518T>C | CA478095830 | KCNA5 | c.1371T>C (p.Ala457=)
| |
12 | g.5045518T>G | CA478095831 | KCNA5 | c.1371T>G (p.Ala457=)
| |
12 | g.5045519G>A | CA383466339 | KCNA5 | c.1372G>A (p.Asp458Asn)
| ClinVar dbSNP |
12 | g.5045519G>C | CA383466340 | KCNA5 | c.1372G>C (p.Asp458His)
| |
12 | g.5045519G>T | CA383466341 | KCNA5 | c.1372G>T (p.Asp458Tyr)
| |
12 | g.5045520A>C | CA383466342 | KCNA5 | c.1373A>C (p.Asp458Ala)
| |
12 | g.5045520A>G | CA383466343 | KCNA5 | c.1373A>G (p.Asp458Gly)
| |
12 | g.5045520A>T | CA383466344 | KCNA5 | c.1373A>T (p.Asp458Val)
| |
12 | g.5045521C>A | CA383466345 | KCNA5 | c.1374C>A (p.Asp458Glu)
| |
12 | g.5045521C>G | CA383466346 | KCNA5 | c.1374C>G (p.Asp458Glu)
| |
12 | g.5045521C>T | CA478095834 | KCNA5 | c.1374C>T (p.Asp458=)
| gnomAD v4 |
12 | g.5045521_5045522insG | CA944256451 | KCNA5 | c.1374_1375insG (p.Asn459GlufsTer8)
| gnomAD v3 gnomAD v4 |
12 | g.5045522A>C | CA383466347 | KCNA5 | c.1375A>C (p.Asn459His)
| |
12 | g.5045522A>G | CA383466348 | KCNA5 | c.1375A>G (p.Asn459Asp)
| ClinVar gnomAD v4 |
12 | g.5045522A>T | CA383466349 | KCNA5 | c.1375A>T (p.Asn459Tyr)
| COSMIC |
12 | g.5045522_5045523insTG | CA944256454 | KCNA5 | c.1375_1376insTG (p.Asn459MetfsTer21)
| gnomAD v3 gnomAD v4 |
12 | g.5045523A>C | CA383466350 | KCNA5 | c.1376A>C (p.Asn459Thr)
| |
12 | g.5045523A>G | CA383466351 | KCNA5 | c.1376A>G (p.Asn459Ser)
| |
12 | g.5045523A>T | CA383466352 | KCNA5 | c.1376A>T (p.Asn459Ile)
| |
12 | g.5045524C>A | CA383466353 | KCNA5 | c.1377C>A (p.Asn459Lys)
| |
12 | g.5045524C>G | CA383466354 | KCNA5 | c.1377C>G (p.Asn459Lys)
| |
12 | g.5045524C>T | CA478095836 | KCNA5 | c.1377C>T (p.Asn459=)
| ClinVar gnomAD v4 |
12 | g.5045527_5045535del | CA2617209925 | KCNA5 | c.1380_1388del (p.Gln460_Thr462del)
| gnomAD v4 |
12 | g.5045525C>A | CA231868887 | KCNA5 | c.1378C>A (p.Gln460Lys)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045525C= | CA2013431266 | KCNA5 | c.1378C= (p.Gln460=)
| |
12 | g.5045525C>G | CA383466355 | KCNA5 | c.1378C>G (p.Gln460Glu)
| |
12 | g.5045525C>T | CA383466356 | KCNA5 | c.1378C>T (p.Gln460Ter)
| |
12 | g.5045525_5045528del | CA944256457 | KCNA5 | c.1378_1381del (p.Gln460GlufsTer18)
| gnomAD v3 gnomAD v4 |
12 | g.5045526A>C | CA383466358 | KCNA5 | c.1379A>C (p.Gln460Pro)
| |
12 | g.5045526A>G | CA383466359 | KCNA5 | c.1379A>G (p.Gln460Arg)
| |
12 | g.5045526A>T | CA383466357 | KCNA5 | c.1379A>T (p.Gln460Leu)
| |
12 | g.5045527G>A | CA478095838 | KCNA5 | c.1380G>A (p.Gln460=)
| gnomAD v4 |
12 | g.5045527G>C | CA383466360 | KCNA5 | c.1380G>C (p.Gln460His)
| |
12 | g.5045527G>T | CA383466361 | KCNA5 | c.1380G>T (p.Gln460His)
| |
12 | g.5045528G>A | CA383466362 | KCNA5 | c.1381G>A (p.Gly461Arg)
| COSMIC |
12 | g.5045528G>C | CA383466363 | KCNA5 | c.1381G>C (p.Gly461Arg)
| |
12 | g.5045528G>T | CA383466364 | KCNA5 | c.1381G>T (p.Gly461Ter)
| |
12 | g.5045529G>A | CA383466365 | KCNA5 | c.1382G>A (p.Gly461Glu)
| gnomAD v4 |
12 | g.5045529G>C | CA383466366 | KCNA5 | c.1382G>C (p.Gly461Ala)
| dbSNP |
12 | g.5045529G>T | CA383466367 | KCNA5 | c.1382G>T (p.Gly461Val)
| |
12 | g.5045530A>C | CA478095842 | KCNA5 | c.1383A>C (p.Gly461=)
| dbSNP |
12 | g.5045530A>G | CA478095843 | KCNA5 | c.1383A>G (p.Gly461=)
| gnomAD v3 gnomAD v4 |
12 | g.5045530A>T | CA478095844 | KCNA5 | c.1383A>T (p.Gly461=)
| |
12 | g.5045531A>C | CA383466368 | KCNA5 | c.1384A>C (p.Thr462Pro)
| |
12 | g.5045531A>G | CA383466369 | KCNA5 | c.1384A>G (p.Thr462Ala)
| |
12 | g.5045531A>T | CA383466370 | KCNA5 | c.1384A>T (p.Thr462Ser)
| |
12 | g.5045531_5045536del | CA944256458 | KCNA5 | c.1384_1389del (p.Thr462_His463del)
| gnomAD v3 gnomAD v4 |
12 | g.5045532C>A | CA383466372 | KCNA5 | c.1385C>A (p.Thr462Asn)
| |
12 | g.5045532C>G | CA383466373 | KCNA5 | c.1385C>G (p.Thr462Ser)
| |
12 | g.5045532C>T | CA383466371 | KCNA5 | c.1385C>T (p.Thr462Ile)
| |
12 | g.5045533C>A | CA478095846 | KCNA5 | c.1386C>A (p.Thr462=)
| gnomAD v4 |
12 | g.5045533C= | CA2013431267 | KCNA5 | c.1386C= (p.Thr462=)
| |
12 | g.5045533C>G | CA6399859 | KCNA5 | c.1386C>G (p.Thr462=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045533C>T | CA6399858 | KCNA5 | c.1386C>T (p.Thr462=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045534C>A | CA383466374 | KCNA5 | c.1387C>A (p.His463Asn)
| |
12 | g.5045534C>G | CA383466375 | KCNA5 | c.1387C>G (p.His463Asp)
| |
12 | g.5045534C>T | CA383466376 | KCNA5 | c.1387C>T (p.His463Tyr)
| |
12 | g.5045535A= | CA2013431268 | KCNA5 | c.1388A= (p.His463=)
| |
12 | g.5045535A>C | CA383466378 | KCNA5 | c.1388A>C (p.His463Pro)
| |
12 | g.5045535A>G | CA383466377 | KCNA5 | c.1388A>G (p.His463Arg)
| |
12 | g.5045535A>T | CA6399860 | KCNA5 | c.1388A>T (p.His463Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.5045536T>A | CA383466379 | KCNA5 | c.1389T>A (p.His463Gln)
| |
12 | g.5045536T>C | CA6399861 | KCNA5 | c.1389T>C (p.His463=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045536T>G | CA383466380 | KCNA5 | c.1389T>G (p.His463Gln)
| |
12 | g.5045536T= | CA2013431269 | KCNA5 | c.1389T= (p.His463=)
| |
12 | g.5045537T>A | CA383466381 | KCNA5 | c.1390T>A (p.Phe464Ile)
| |
12 | g.5045537T>C | CA383466382 | KCNA5 | c.1390T>C (p.Phe464Leu)
| |
12 | g.5045537T>G | CA383466383 | KCNA5 | c.1390T>G (p.Phe464Val)
| |
12 | g.5045538T>A | CA383466385 | KCNA5 | c.1391T>A (p.Phe464Tyr)
| |
12 | g.5045538T>C | CA383466386 | KCNA5 | c.1391T>C (p.Phe464Ser)
| |
12 | g.5045538T>G | CA383466384 | KCNA5 | c.1391T>G (p.Phe464Cys)
| |
12 | g.5045539C>A | CA383466388 | KCNA5 | c.1392C>A (p.Phe464Leu)
| gnomAD v4 COSMIC |
12 | g.5045539C= | CA2013431270 | KCNA5 | c.1392C= (p.Phe464=)
| |
12 | g.5045539C>G | CA383466387 | KCNA5 | c.1392C>G (p.Phe464Leu)
| |
12 | g.5045539C>T | CA478095854 | KCNA5 | c.1392C>T (p.Phe464=)
| dbSNP gnomAD v4 |
12 | g.5045540T>A | CA383466389 | KCNA5 | c.1393T>A (p.Ser465Thr)
| |
12 | g.5045540T>C | CA383466390 | KCNA5 | c.1393T>C (p.Ser465Pro)
| |
12 | g.5045540T>G | CA383466391 | KCNA5 | c.1393T>G (p.Ser465Ala)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045540T= | CA2013431271 | KCNA5 | c.1393T= (p.Ser465=)
| |
12 | g.5045541C>A | CA383466392 | KCNA5 | c.1394C>A (p.Ser465Tyr)
| |
12 | g.5045541C= | CA2013431272 | KCNA5 | c.1394C= (p.Ser465=)
| |
12 | g.5045541C>G | CA6399862 | KCNA5 | c.1394C>G (p.Ser465Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045541C>T | CA383466393 | KCNA5 | c.1394C>T (p.Ser465Phe)
| dbSNP gnomAD v4 COSMIC |
12 | g.5045542T>A | CA478095856 | KCNA5 | c.1395T>A (p.Ser465=)
| |
12 | g.5045542T>C | CA478095857 | KCNA5 | c.1395T>C (p.Ser465=)
| |
12 | g.5045542T>G | CA478095858 | KCNA5 | c.1395T>G (p.Ser465=)
| |
12 | g.5045542T= | CA2013431273 | KCNA5 | c.1395T= (p.Ser465=)
| |
12 | g.5045542_5045543insTTTTCCC | CA944256463 | KCNA5 | c.1395_1396insTTTTCCC (p.Ser466PhefsTer6)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045543A>C | CA383466394 | KCNA5 | c.1396A>C (p.Ser466Arg)
| |
12 | g.5045543A>G | CA383466395 | KCNA5 | c.1396A>G (p.Ser466Gly)
| |
12 | g.5045543A>T | CA383466396 | KCNA5 | c.1396A>T (p.Ser466Cys)
| gnomAD v4 |
12 | g.5045544G>A | CA383466397 | KCNA5 | c.1397G>A (p.Ser466Asn)
| gnomAD v4 |
12 | g.5045544G>C | CA383466398 | KCNA5 | c.1397G>C (p.Ser466Thr)
| gnomAD v4 |
12 | g.5045544G>T | CA383466399 | KCNA5 | c.1397G>T (p.Ser466Ile)
| |
12 | g.5045545C>A | CA383466401 | KCNA5 | c.1398C>A (p.Ser466Arg)
| |
12 | g.5045545C>G | CA383466400 | KCNA5 | c.1398C>G (p.Ser466Arg)
| |
12 | g.5045545C>T | CA478095862 | KCNA5 | c.1398C>T (p.Ser466=)
| |