Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.5045204T>ACA383465685KCNA5c.1057T>A (p.Ser353Thr)
12g.5045204T>CCA383465686KCNA5c.1057T>C (p.Ser353Pro)
12g.5045204T>GCA383465687KCNA5c.1057T>G (p.Ser353Ala)
12g.5045205C>ACA383465688KCNA5c.1058C>A (p.Ser353Tyr)
12g.5045205C>GCA383465689KCNA5c.1058C>G (p.Ser353Cys)
12g.5045205C>TCA383465690KCNA5c.1058C>T (p.Ser353Phe)
gnomAD v4
12g.5045206C>ACA478095621KCNA5c.1059C>A (p.Ser353=)
12g.5045206C>GCA478095624KCNA5c.1059C>G (p.Ser353=)
gnomAD v4 COSMIC
12g.5045206C>TCA478095626KCNA5c.1059C>T (p.Ser353=)
12g.5045207C>ACA478095629KCNA5c.1060C>A (p.Arg354=)
ClinVar dbSNP gnomAD v4
12g.5045207C=CA2013431126KCNA5c.1060C= (p.Arg354=)
12g.5045207C>GCA383465691KCNA5c.1060C>G (p.Arg354Gly)
12g.5045207C>TCA6399795KCNA5c.1060C>T (p.Arg354Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.5045208G>ACA383465692KCNA5c.1061G>A (p.Arg354Gln)
dbSNP gnomAD v4 COSMIC
12g.5045208G>CCA383465693KCNA5c.1061G>C (p.Arg354Pro)
12g.5045208G=CA2013431127KCNA5c.1061G= (p.Arg354=)
12g.5045208G>TCA383465694KCNA5c.1061G>T (p.Arg354Leu)
12g.5045209G>ACA478095632KCNA5c.1062G>A (p.Arg354=)
12g.5045209G>CCA478095633KCNA5c.1062G>C (p.Arg354=)
12g.5045209G=CA2013431128KCNA5c.1062G= (p.Arg354=)
12g.5045209G>TCA6399796KCNA5c.1062G>T (p.Arg354=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.5045218_5045226dupCA603482592KCNA5c.1071_1079dup (p.Ile359_Ile360insMetAsnIle)
dbSNP gnomAD v2 gnomAD v4
12g.5045210A>CCA383465695KCNA5c.1063A>C (p.Asn355His)
12g.5045210A>GCA383465696KCNA5c.1063A>G (p.Asn355Asp)
gnomAD v4
12g.5045210A>TCA383465697KCNA5c.1063A>T (p.Asn355Tyr)
12g.5045211A>CCA383465698KCNA5c.1064A>C (p.Asn355Thr)
12g.5045211A>GCA383465699KCNA5c.1064A>G (p.Asn355Ser)
12g.5045211A>TCA383465700KCNA5c.1064A>T (p.Asn355Ile)
12g.5045212C>ACA383465701KCNA5c.1065C>A (p.Asn355Lys)
gnomAD v4
12g.5045212C=CA2013431129KCNA5c.1065C= (p.Asn355=)
12g.5045212C>GCA383465702KCNA5c.1065C>G (p.Asn355Lys)
12g.5045212C>TCA478095635KCNA5c.1065C>T (p.Asn355=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.5045213A>CCA383465703KCNA5c.1066A>C (p.Ile356Leu)
12g.5045213A>GCA383465705KCNA5c.1066A>G (p.Ile356Val)
12g.5045213A>TCA383465704KCNA5c.1066A>T (p.Ile356Phe)
12g.5045214T>ACA383465706KCNA5c.1067T>A (p.Ile356Asn)
12g.5045214T>CCA383465707KCNA5c.1067T>C (p.Ile356Thr)
12g.5045214T>GCA383465708KCNA5c.1067T>G (p.Ile356Ser)
12g.5045215C>ACA478095640KCNA5c.1068C>A (p.Ile356=)
12g.5045215C>GCA383465709KCNA5c.1068C>G (p.Ile356Met)
gnomAD v4
12g.5045215C>TCA478095642KCNA5c.1068C>T (p.Ile356=)
12g.5045216A=CA2013431130KCNA5c.1069A= (p.Met357=)
12g.5045216A>CCA383465710KCNA5c.1069A>C (p.Met357Leu)
12g.5045216A>GCA231868413KCNA5c.1069A>G (p.Met357Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.5045216A>TCA383465711KCNA5c.1069A>T (p.Met357Leu)
12g.5045217T>ACA383465713KCNA5c.1070T>A (p.Met357Lys)
12g.5045217T>CCA6399797KCNA5c.1070T>C (p.Met357Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.5045217T>GCA383465712KCNA5c.1070T>G (p.Met357Arg)
12g.5045217T=CA2013431131KCNA5c.1070T= (p.Met357=)
12g.5045218G>ACA383465714KCNA5c.1071G>A (p.Met357Ile)
12g.5045218G>CCA383465715KCNA5c.1071G>C (p.Met357Ile)
12g.5045218G>TCA383465716KCNA5c.1071G>T (p.Met357Ile)
12g.5045219A>CCA383465717KCNA5c.1072A>C (p.Asn358His)
12g.5045219A>GCA383465718KCNA5c.1072A>G (p.Asn358Asp)
12g.5045219A>TCA383465719KCNA5c.1072A>T (p.Asn358Tyr)
12g.5045220_5045222delCA2617209914KCNA5c.1073_1075del (p.Asn358del)
gnomAD v4
12g.5045220A>CCA383465720KCNA5c.1073A>C (p.Asn358Thr)
12g.5045220A>GCA383465722KCNA5c.1073A>G (p.Asn358Ser)
12g.5045220A>TCA383465721KCNA5c.1073A>T (p.Asn358Ile)
12g.5045221C>ACA383465723KCNA5c.1074C>A (p.Asn358Lys)
12g.5045221C>GCA383465724KCNA5c.1074C>G (p.Asn358Lys)
12g.5045221C>TCA478095648KCNA5c.1074C>T (p.Asn358=)
12g.5045222A=CA2013431132KCNA5c.1075A= (p.Ile359=)
12g.5045222A>CCA383465725KCNA5c.1075A>C (p.Ile359Leu)
12g.5045222A>GCA6399798KCNA5c.1075A>G (p.Ile359Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.5045222A>TCA383465726KCNA5c.1075A>T (p.Ile359Phe)
12g.5045222_5045223delCA2617209915KCNA5c.1075_1076del (p.Ile359HisfsTer?)
gnomAD v4
12g.5045223T>ACA383465727KCNA5c.1076T>A (p.Ile359Asn)
12g.5045223T>CCA383465728KCNA5c.1076T>C (p.Ile359Thr)
12g.5045223T>GCA383465729KCNA5c.1076T>G (p.Ile359Ser)
12g.5045224C>ACA478095649KCNA5c.1077C>A (p.Ile359=)
12g.5045224C>GCA383465730KCNA5c.1077C>G (p.Ile359Met)
12g.5045224C>TCA478095650KCNA5c.1077C>T (p.Ile359=)
gnomAD v4 COSMIC
12g.5045225A>CCA383465731KCNA5c.1078A>C (p.Ile360Leu)
12g.5045225A>GCA383465732KCNA5c.1078A>G (p.Ile360Val)
ClinVar gnomAD v4
12g.5045225A>TCA383465733KCNA5c.1078A>T (p.Ile360Phe)
12g.5045226T>ACA383465734KCNA5c.1079T>A (p.Ile360Asn)
12g.5045226T>CCA383465736KCNA5c.1079T>C (p.Ile360Thr)
dbSNP
12g.5045226T>GCA383465735KCNA5c.1079T>G (p.Ile360Ser)
12g.5045226T=CA2013431133KCNA5c.1079T= (p.Ile360=)
12g.5045227C>ACA478095652KCNA5c.1080C>A (p.Ile360=)
12g.5045227C=CA2013431134KCNA5c.1080C= (p.Ile360=)
12g.5045227C>GCA383465737KCNA5c.1080C>G (p.Ile360Met)
12g.5045227C>TCA6399799KCNA5c.1080C>T (p.Ile360=)
dbSNP ExAC gnomAD v4
12g.5045228G>ACA383465738KCNA5c.1081G>A (p.Asp361Asn)
ClinVar dbSNP gnomAD v2 gnomAD v4
12g.5045228G>CCA383465739KCNA5c.1081G>C (p.Asp361His)
12g.5045228G=CA2013431135KCNA5c.1081G= (p.Asp361=)
12g.5045228G>TCA383465740KCNA5c.1081G>T (p.Asp361Tyr)
dbSNP
12g.5045229A>CCA383465741KCNA5c.1082A>C (p.Asp361Ala)
12g.5045229A>GCA383465742KCNA5c.1082A>G (p.Asp361Gly)
gnomAD v4
12g.5045229A>TCA383465743KCNA5c.1082A>T (p.Asp361Val)
12g.5045230T>ACA383465744KCNA5c.1083T>A (p.Asp361Glu)
12g.5045230T>CCA478095658KCNA5c.1083T>C (p.Asp361=)
dbSNP gnomAD v4
12g.5045230T>GCA383465745KCNA5c.1083T>G (p.Asp361Glu)
12g.5045230T=CA2013431136KCNA5c.1083T= (p.Asp361=)
12g.5045231G>ACA6399800KCNA5c.1084G>A (p.Val362Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5045231G>CCA383465746KCNA5c.1084G>C (p.Val362Leu)
12g.5045231G=CA2013431137KCNA5c.1084G= (p.Val362=)
12g.5045231G>TCA383465747KCNA5c.1084G>T (p.Val362Leu)
gnomAD v4
12g.5045232T>ACA383465750KCNA5c.1085T>A (p.Val362Glu)
12g.5045232T>CCA383465748KCNA5c.1085T>C (p.Val362Ala)
gnomAD v4
12g.5045232T>GCA383465749KCNA5c.1085T>G (p.Val362Gly)
12g.5045232_5045233delinsTGCA2013431138KCNA5c.1085_1086delinsTG (p.Val362=)
12g.5045233G>ACA478095378KCNA5c.1086G>A (p.Val362=)
12g.5045233G>CCA478095379KCNA5c.1086G>C (p.Val362=)
12g.5045233G=CA2013431139KCNA5c.1086G= (p.Val362=)
12g.5045233G>TCA478095380KCNA5c.1086G>T (p.Val362=)
dbSNP gnomAD v3 gnomAD v4
12g.5045234delCA919011873KCNA5c.1087del (p.Val363TrpfsTer?)
dbSNP gnomAD v4
12g.5045234G>ACA383465751KCNA5c.1087G>A (p.Val363Met)
gnomAD v4
12g.5045234G>CCA383465752KCNA5c.1087G>C (p.Val363Leu)
gnomAD v4
12g.5045234G>TCA383465753KCNA5c.1087G>T (p.Val363Leu)
12g.5045235T>ACA383465754KCNA5c.1088T>A (p.Val363Glu)
12g.5045235T>CCA383465755KCNA5c.1088T>C (p.Val363Ala)
12g.5045235T>GCA383465756KCNA5c.1088T>G (p.Val363Gly)
12g.5045236G>ACA478095385KCNA5c.1089G>A (p.Val363=)
12g.5045236G>CCA478095387KCNA5c.1089G>C (p.Val363=)
12g.5045236G=CA2013431140KCNA5c.1089G= (p.Val363=)
12g.5045236G>TCA478095386KCNA5c.1089G>T (p.Val363=)
dbSNP
12g.5045237G>ACA383465757KCNA5c.1090G>A (p.Ala364Thr)
gnomAD v4
12g.5045237G>CCA383465758KCNA5c.1090G>C (p.Ala364Pro)
12g.5045237G>TCA383465759KCNA5c.1090G>T (p.Ala364Ser)
12g.5045238C>ACA383465760KCNA5c.1091C>A (p.Ala364Asp)
12g.5045238C=CA2013431141KCNA5c.1091C= (p.Ala364=)
12g.5045238C>GCA231868433KCNA5c.1091C>G (p.Ala364Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.5045238C>TCA383465761KCNA5c.1091C>T (p.Ala364Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.5045239C>ACA478095389KCNA5c.1092C>A (p.Ala364=)
12g.5045239C=CA2013431142KCNA5c.1092C= (p.Ala364=)
12g.5045239C>GCA478095393KCNA5c.1092C>G (p.Ala364=)
12g.5045239C>TCA478095390KCNA5c.1092C>T (p.Ala364=)
dbSNP gnomAD v3 gnomAD v4
12g.5045240A=CA2013431143KCNA5c.1093A= (p.Ile365=)
12g.5045240A>CCA383465762KCNA5c.1093A>C (p.Ile365Leu)
12g.5045240A>GCA6399801KCNA5c.1093A>G (p.Ile365Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5045240A>TCA383465763KCNA5c.1093A>T (p.Ile365Phe)
12g.5045241T>ACA383465764KCNA5c.1094T>A (p.Ile365Asn)
12g.5045241T>CCA383465766KCNA5c.1094T>C (p.Ile365Thr)
12g.5045241T>GCA383465765KCNA5c.1094T>G (p.Ile365Ser)
12g.5045242C>ACA478095397KCNA5c.1095C>A (p.Ile365=)
gnomAD v4
12g.5045242C>GCA383465767KCNA5c.1095C>G (p.Ile365Met)
COSMIC
12g.5045242C>TCA478095395KCNA5c.1095C>T (p.Ile365=)
12g.5045243T>ACA383465768KCNA5c.1096T>A (p.Phe366Ile)
12g.5045243T>CCA383465769KCNA5c.1096T>C (p.Phe366Leu)
gnomAD v4
12g.5045243T>GCA383465770KCNA5c.1096T>G (p.Phe366Val)
12g.5045244T>ACA383465771KCNA5c.1097T>A (p.Phe366Tyr)
12g.5045244T>CCA383465772KCNA5c.1097T>C (p.Phe366Ser)
12g.5045244T>GCA383465773KCNA5c.1097T>G (p.Phe366Cys)
12g.5045244T=CA2013431144KCNA5c.1097T= (p.Phe366=)
12g.5045245C>ACA383465774KCNA5c.1098C>A (p.Phe366Leu)
COSMIC
12g.5045245C>GCA383465775KCNA5c.1098C>G (p.Phe366Leu)
12g.5045245C>TCA478095401KCNA5c.1098C>T (p.Phe366=)
12g.5045248dupCA231868461KCNA5c.1101dup (p.Tyr368LeufsTer?)
dbSNP
12g.5045246C>ACA383465776KCNA5c.1099C>A (p.Pro367Thr)
12g.5045246C=CA2013431145KCNA5c.1099C= (p.Pro367=)
12g.5045246C>GCA231868472KCNA5c.1099C>G (p.Pro367Ala)
dbSNP
12g.5045246C>TCA383465777KCNA5c.1099C>T (p.Pro367Ser)
gnomAD v4
12g.5045247C>ACA383465778KCNA5c.1100C>A (p.Pro367His)
COSMIC
12g.5045247C=CA2013431146KCNA5c.1100C= (p.Pro367=)
12g.5045247C>GCA383465780KCNA5c.1100C>G (p.Pro367Arg)
dbSNP
12g.5045247C>TCA383465779KCNA5c.1100C>T (p.Pro367Leu)
12g.5045248C>ACA478095403KCNA5c.1101C>A (p.Pro367=)
12g.5045248C=CA2013431147KCNA5c.1101C= (p.Pro367=)
12g.5045248C>GCA478095404KCNA5c.1101C>G (p.Pro367=)
12g.5045248C>TCA6399802KCNA5c.1101C>T (p.Pro367=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5045249T>ACA383465781KCNA5c.1102T>A (p.Tyr368Asn)
dbSNP gnomAD v4
12g.5045249T>CCA383465782KCNA5c.1102T>C (p.Tyr368His)
12g.5045249T>GCA383465783KCNA5c.1102T>G (p.Tyr368Asp)
12g.5045249T=CA2013431149KCNA5c.1102T= (p.Tyr368=)
12g.5045249_5045257delinsTACTTCATCCA2013431148KCNA5c.1102_1110delinsTACTTCATC (p.Tyr368=)
12g.5045250A=CA2013431150KCNA5c.1103A= (p.Tyr368=)
12g.5045250A>CCA383465784KCNA5c.1103A>C (p.Tyr368Ser)
12g.5045250A>GCA383465785KCNA5c.1103A>G (p.Tyr368Cys)
dbSNP gnomAD v3 gnomAD v4
12g.5045250A>TCA383465786KCNA5c.1103A>T (p.Tyr368Phe)
gnomAD v4
12g.5045252_5045259delCA603482589KCNA5c.1105_1112del (p.Phe369ProfsTer?)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.5045251C>ACA383465787KCNA5c.1104C>A (p.Tyr368Ter)
12g.5045251C=CA2013431151KCNA5c.1104C= (p.Tyr368=)
12g.5045251C>GCA383465788KCNA5c.1104C>G (p.Tyr368Ter)
COSMIC
12g.5045251C>TCA231868473KCNA5c.1104C>T (p.Tyr368=)
dbSNP gnomAD v4
12g.5045252T>ACA383465790KCNA5c.1105T>A (p.Phe369Ile)
gnomAD v4
12g.5045252T>CCA383465791KCNA5c.1105T>C (p.Phe369Leu)
12g.5045252T>GCA383465789KCNA5c.1105T>G (p.Phe369Val)
dbSNP
12g.5045252T=CA2013431152KCNA5c.1105T= (p.Phe369=)
12g.5045253T>ACA383465792KCNA5c.1106T>A (p.Phe369Tyr)
12g.5045253T>CCA383465793KCNA5c.1106T>C (p.Phe369Ser)
12g.5045253T>GCA383465794KCNA5c.1106T>G (p.Phe369Cys)
12g.5045254C>ACA383465795KCNA5c.1107C>A (p.Phe369Leu)
12g.5045254C>GCA383465796KCNA5c.1107C>G (p.Phe369Leu)
12g.5045254C>TCA478095409KCNA5c.1107C>T (p.Phe369=)
12g.5045255A>CCA383465797KCNA5c.1108A>C (p.Ile370Leu)
12g.5045255A>GCA383465798KCNA5c.1108A>G (p.Ile370Val)
12g.5045255A>TCA383465799KCNA5c.1108A>T (p.Ile370Phe)
gnomAD v4
12g.5045256T>ACA383465800KCNA5c.1109T>A (p.Ile370Asn)
12g.5045256T>CCA383465801KCNA5c.1109T>C (p.Ile370Thr)
12g.5045256T>GCA383465802KCNA5c.1109T>G (p.Ile370Ser)
12g.5045257C>ACA478095411KCNA5c.1110C>A (p.Ile370=)
12g.5045257C>GCA383465803KCNA5c.1110C>G (p.Ile370Met)
12g.5045257C>TCA478095412KCNA5c.1110C>T (p.Ile370=)
12g.5045258A>CCA383465805KCNA5c.1111A>C (p.Thr371Pro)
12g.5045258A>GCA383465806KCNA5c.1111A>G (p.Thr371Ala)
12g.5045258A>TCA383465804KCNA5c.1111A>T (p.Thr371Ser)
12g.5045259C>ACA383465807KCNA5c.1112C>A (p.Thr371Asn)
12g.5045259C=CA2013431153KCNA5c.1112C= (p.Thr371=)
12g.5045259C>GCA383465808KCNA5c.1112C>G (p.Thr371Ser)
dbSNP
12g.5045259C>TCA383465809KCNA5c.1112C>T (p.Thr371Ile)
gnomAD v4
12g.5045260C>ACA478095414KCNA5c.1113C>A (p.Thr371=)
12g.5045260C>GCA478095415KCNA5c.1113C>G (p.Thr371=)
12g.5045260C>TCA478095416KCNA5c.1113C>T (p.Thr371=)
gnomAD v4
12g.5045261C>ACA383465810KCNA5c.1114C>A (p.Leu372Met)
ClinVar dbSNP
12g.5045261C=CA2013431154KCNA5c.1114C= (p.Leu372=)
12g.5045261C>GCA231868474KCNA5c.1114C>G (p.Leu372Val)
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.5045261C>TCA478095417KCNA5c.1114C>T (p.Leu372=)
ClinVar dbSNP
12g.5045262T>ACA383465813KCNA5c.1115T>A (p.Leu372Gln)
12g.5045262T>CCA383465811KCNA5c.1115T>C (p.Leu372Pro)
12g.5045262T>GCA383465812KCNA5c.1115T>G (p.Leu372Arg)
12g.5045263G>ACA478095418KCNA5c.1116G>A (p.Leu372=)
dbSNP gnomAD v4
12g.5045263G>CCA478095419KCNA5c.1116G>C (p.Leu372=)
12g.5045263G=CA2013431155KCNA5c.1116G= (p.Leu372=)
12g.5045263G>TCA478095420KCNA5c.1116G>T (p.Leu372=)
12g.5045263_5045274delinsGGGCACCGAACTCA2013431156KCNA5c.1116_1127delinsGGGCACCGAACT (p.Leu372=)
12g.5045264G>ACA383465814KCNA5c.1117G>A (p.Gly373Ser)
gnomAD v4
12g.5045264G>CCA383465815KCNA5c.1117G>C (p.Gly373Arg)
12g.5045264G>TCA383465816KCNA5c.1117G>T (p.Gly373Cys)
12g.5045268_5045278delCA2013431157KCNA5c.1121_1131del (p.Thr374ArgfsTer?)
dbSNP
12g.5045265G>ACA383465817KCNA5c.1118G>A (p.Gly373Asp)
12g.5045265G>CCA383465818KCNA5c.1118G>C (p.Gly373Ala)
12g.5045265G=CA2013431158KCNA5c.1118G= (p.Gly373=)
12g.5045265G>TCA383465819KCNA5c.1118G>T (p.Gly373Val)
dbSNP gnomAD v2 gnomAD v4
12g.5045266C>ACA478095424KCNA5c.1119C>A (p.Gly373=)
12g.5045266C>GCA478095425KCNA5c.1119C>G (p.Gly373=)
12g.5045266C>TCA478095426KCNA5c.1119C>T (p.Gly373=)
12g.5045267A>CCA383465821KCNA5c.1120A>C (p.Thr374Pro)
12g.5045267A>GCA383465822KCNA5c.1120A>G (p.Thr374Ala)
12g.5045267A>TCA383465820KCNA5c.1120A>T (p.Thr374Ser)
12g.5045268C>ACA383465824KCNA5c.1121C>A (p.Thr374Asn)
COSMIC
12g.5045268C>GCA383465823KCNA5c.1121C>G (p.Thr374Ser)
12g.5045268C>TCA383465825KCNA5c.1121C>T (p.Thr374Ile)
gnomAD v4 COSMIC
12g.5045269C>ACA478095434KCNA5c.1122C>A (p.Thr374=)
dbSNP
12g.5045269C=CA2013431159KCNA5c.1122C= (p.Thr374=)
12g.5045269C>GCA6399803KCNA5c.1122C>G (p.Thr374=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.5045269C>TCA231868483KCNA5c.1122C>T (p.Thr374=)
ClinVar dbSNP gnomAD v2 gnomAD v4
12g.5045270G>ACA231868487KCNA5c.1123G>A (p.Glu375Lys)
dbSNP gnomAD v3 gnomAD v4 COSMIC
12g.5045270G>CCA383465826KCNA5c.1123G>C (p.Glu375Gln)
12g.5045270G=CA2013431160KCNA5c.1123G= (p.Glu375=)
12g.5045270G>TCA123122KCNA5c.1123G>T (p.Glu375Ter)
ClinVar dbSNP gnomAD v4
12g.5045271A>CCA383465827KCNA5c.1124A>C (p.Glu375Ala)
12g.5045271A>GCA383465829KCNA5c.1124A>G (p.Glu375Gly)
12g.5045271A>TCA383465828KCNA5c.1124A>T (p.Glu375Val)
12g.5045272A=CA2013431161KCNA5c.1125A= (p.Glu375=)
12g.5045272A>CCA383465830KCNA5c.1125A>C (p.Glu375Asp)
12g.5045272A>GCA478095438KCNA5c.1125A>G (p.Glu375=)
dbSNP gnomAD v2 gnomAD v4
12g.5045272A>TCA383465831KCNA5c.1125A>T (p.Glu375Asp)
12g.5045273C>ACA383465832KCNA5c.1126C>A (p.Leu376Met)
12g.5045273C=CA2013431162KCNA5c.1126C= (p.Leu376=)
12g.5045273C>GCA383465833KCNA5c.1126C>G (p.Leu376Val)
12g.5045273C>TCA478095441KCNA5c.1126C>T (p.Leu376=)
dbSNP gnomAD v4
12g.5045274T>ACA383465834KCNA5c.1127T>A (p.Leu376Gln)
12g.5045274T>CCA383465835KCNA5c.1127T>C (p.Leu376Pro)
12g.5045274T>GCA383465836KCNA5c.1127T>G (p.Leu376Arg)
12g.5045275G>ACA478095447KCNA5c.1128G>A (p.Leu376=)
12g.5045275G>CCA478095446KCNA5c.1128G>C (p.Leu376=)
12g.5045275G>TCA478095445KCNA5c.1128G>T (p.Leu376=)
12g.5045276G>ACA383465837KCNA5c.1129G>A (p.Ala377Thr)
12g.5045276G>CCA383465838KCNA5c.1129G>C (p.Ala377Pro)
12g.5045276G>TCA383465839KCNA5c.1129G>T (p.Ala377Ser)
12g.5045276_5045277insTGCA2617209916KCNA5c.1129_1130insTG (p.Ala377ValfsTer?)
gnomAD v4
12g.5045277C>ACA383465842KCNA5c.1130C>A (p.Ala377Glu)
gnomAD v4
12g.5045277C>GCA383465841KCNA5c.1130C>G (p.Ala377Gly)
12g.5045277C>TCA383465840KCNA5c.1130C>T (p.Ala377Val)
gnomAD v4
12g.5045278A>CCA478095454KCNA5c.1131A>C (p.Ala377=)
12g.5045278A>GCA478095452KCNA5c.1131A>G (p.Ala377=)
12g.5045278A>TCA478095451KCNA5c.1131A>T (p.Ala377=)
12g.5045279G>ACA6399804KCNA5c.1132G>A (p.Glu378Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.5045279G>CCA383465843KCNA5c.1132G>C (p.Glu378Gln)
12g.5045279G=CA2013431163KCNA5c.1132G= (p.Glu378=)
12g.5045279G>TCA383465844KCNA5c.1132G>T (p.Glu378Ter)
12g.5045279_5045280insCCA2617209917KCNA5c.1132_1133insC (p.Glu378AlafsTer?)
gnomAD v4
12g.5045280A=CA2013431164KCNA5c.1133A= (p.Glu378=)
12g.5045280A>CCA383465845KCNA5c.1133A>C (p.Glu378Ala)
12g.5045280A>GCA6399805KCNA5c.1133A>G (p.Glu378Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.5045280A>TCA383465846KCNA5c.1133A>T (p.Glu378Val)
12g.5045281G>ACA478095458KCNA5c.1134G>A (p.Glu378=)
12g.5045281G>CCA231868497KCNA5c.1134G>C (p.Glu378Asp)
dbSNP gnomAD v4
12g.5045281G=CA2013431165KCNA5c.1134G= (p.Glu378=)
12g.5045281G>TCA383465847KCNA5c.1134G>T (p.Glu378Asp)
COSMIC
12g.5045282C>ACA383465848KCNA5c.1135C>A (p.Gln379Lys)
12g.5045282C>GCA383465849KCNA5c.1135C>G (p.Gln379Glu)
12g.5045282C>TCA383465850KCNA5c.1135C>T (p.Gln379Ter)
12g.5045283A>CCA383465853KCNA5c.1136A>C (p.Gln379Pro)
ClinVar dbSNP
12g.5045283A>GCA383465852KCNA5c.1136A>G (p.Gln379Arg)
12g.5045283A>TCA383465851KCNA5c.1136A>T (p.Gln379Leu)
gnomAD v4
12g.5045284G>ACA478095461KCNA5c.1137G>A (p.Gln379=)
gnomAD v4
12g.5045284G>CCA383465854KCNA5c.1137G>C (p.Gln379His)
12g.5045284G>TCA383465855KCNA5c.1137G>T (p.Gln379His)
12g.5045284_5045285insGAGCAGCAACCA2617209918KCNA5c.1137_1138insGAGCAGCAAC (p.Gln380GlufsTer?)
gnomAD v4
12g.5045285C>ACA383465856KCNA5c.1138C>A (p.Gln380Lys)
12g.5045285C=CA2013431166KCNA5c.1138C= (p.Gln380=)
12g.5045285C>GCA383465857KCNA5c.1138C>G (p.Gln380Glu)
ClinVar dbSNP gnomAD v2 gnomAD v4
12g.5045285C>TCA383465858KCNA5c.1138C>T (p.Gln380Ter)
gnomAD v4
12g.5045286A>CCA383465859KCNA5c.1139A>C (p.Gln380Pro)
12g.5045286A>GCA383465860KCNA5c.1139A>G (p.Gln380Arg)
gnomAD v3 gnomAD v4
12g.5045286A>TCA383465861KCNA5c.1139A>T (p.Gln380Leu)
12g.5045287G>ACA478095463KCNA5c.1140G>A (p.Gln380=)
12g.5045287G>CCA383465862KCNA5c.1140G>C (p.Gln380His)
12g.5045287G>TCA383465863KCNA5c.1140G>T (p.Gln380His)
12g.5045288C>ACA6399806KCNA5c.1141C>A (p.Pro381Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.5045288C=CA2013431167KCNA5c.1141C= (p.Pro381=)
12g.5045288C>GCA383465864KCNA5c.1141C>G (p.Pro381Ala)
12g.5045288C>TCA383465865KCNA5c.1141C>T (p.Pro381Ser)
12g.5045289delCA2536874425KCNA5c.1142del (p.Pro381GlnfsTer?)
12g.5045289C>ACA383465866KCNA5c.1142C>A (p.Pro381Gln)
12g.5045289C>GCA383465868KCNA5c.1142C>G (p.Pro381Arg)
12g.5045289C>TCA383465867KCNA5c.1142C>T (p.Pro381Leu)
12g.5045289_5045290delinsCACA2013431168KCNA5c.1142_1143delinsCA (p.Pro381=)
12g.5045290delCA6399807KCNA5c.1143del (p.Gly383ValfsTer?)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5045290A=CA2013431169KCNA5c.1143A= (p.Pro381=)
12g.5045290A>CCA478095466KCNA5c.1143A>C (p.Pro381=)
12g.5045290A>GCA478095467KCNA5c.1143A>G (p.Pro381=)
12g.5045290A>TCA478095465KCNA5c.1143A>T (p.Pro381=)
12g.5045291G>ACA383465869KCNA5c.1144G>A (p.Gly382Arg)
dbSNP gnomAD v2 gnomAD v4
12g.5045291G>CCA383465870KCNA5c.1144G>C (p.Gly382Arg)
12g.5045291G=CA2013431170KCNA5c.1144G= (p.Gly382=)
12g.5045291G>TCA383465871KCNA5c.1144G>T (p.Gly382Trp)
12g.5045295dupCA944256293KCNA5c.1148dup (p.Gly384TrpfsTer?)
dbSNP gnomAD v3 gnomAD v4
12g.5045294_5045295delCA2617209919KCNA5c.1147_1148del (p.Gly383TrpfsTer?)
gnomAD v4
12g.5045292_5045295delCA2617209920KCNA5c.1145_1148del (p.Gly382ValfsTer?)
gnomAD v4
12g.5045291_5045292insCCCA2506265817KCNA5c.1144_1145insCC (p.Gly382AlafsTer?)
12g.5045292G>ACA383465872KCNA5c.1145G>A (p.Gly382Glu)
dbSNP gnomAD v4
12g.5045292G>CCA383465873KCNA5c.1145G>C (p.Gly382Ala)
12g.5045292G=CA2013431171KCNA5c.1145G= (p.Gly382=)
12g.5045292G>TCA383465874KCNA5c.1145G>T (p.Gly382Val)
gnomAD v4
12g.5045293G>ACA478095470KCNA5c.1146G>A (p.Gly382=)
dbSNP gnomAD v3 gnomAD v4
12g.5045293G>CCA478095473KCNA5c.1146G>C (p.Gly382=)
12g.5045293G=CA2013431172KCNA5c.1146G= (p.Gly382=)
12g.5045293G>TCA478095474KCNA5c.1146G>T (p.Gly382=)
gnomAD v4
12g.5045294G>ACA231868538KCNA5c.1147G>A (p.Gly383Ser)
dbSNP gnomAD v4
12g.5045294G>CCA383465875KCNA5c.1147G>C (p.Gly383Arg)
12g.5045294G=CA2013431173KCNA5c.1147G= (p.Gly383=)
12g.5045294G>TCA383465876KCNA5c.1147G>T (p.Gly383Cys)
12g.5045295G>ACA6399808KCNA5c.1148G>A (p.Gly383Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5045295G>CCA383465878KCNA5c.1148G>C (p.Gly383Ala)
12g.5045295G=CA2013431174KCNA5c.1148G= (p.Gly383=)
12g.5045295G>TCA383465877KCNA5c.1148G>T (p.Gly383Val)
dbSNP gnomAD v2 gnomAD v4
12g.5045295_5045296delinsACCA2499221725KCNA5c.1148_1149delinsAC (p.Gly383Asp)
ClinVar
12g.5045296delCA2517155228KCNA5c.1149del (p.Gly384GlufsTer?)
12g.5045296T>ACA478095481KCNA5c.1149T>A (p.Gly383=)
dbSNP
12g.5045296T>CCA6399809KCNA5c.1149T>C (p.Gly383=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5045296T>GCA6399810KCNA5c.1149T>G (p.Gly383=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5045296T=CA2013431175KCNA5c.1149T= (p.Gly383=)
12g.5045296_5045297delinsCACA658658115KCNA5c.1149_1150delinsCA (p.Gly384Arg)
ClinVar
12g.5045296_5045297insCCA2617209921KCNA5c.1149_1150insC (p.Gly384ArgfsTer?)
gnomAD v4
12g.5045297G>ACA199949KCNA5c.1150G>A (p.Gly384Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.5045297G>CCA383465879KCNA5c.1150G>C (p.Gly384Arg)
12g.5045297G=CA2013431176KCNA5c.1150G= (p.Gly384=)
12g.5045297G>TCA383465880KCNA5c.1150G>T (p.Gly384Ter)
12g.5045298_5045299insGGGCA2520099665KCNA5c.1151_1152insGGG (p.Gly384_Gly385insGly)
12g.5045298G>ACA383465881KCNA5c.1151G>A (p.Gly384Glu)
12g.5045298G>CCA383465882KCNA5c.1151G>C (p.Gly384Ala)
12g.5045298G>TCA383465883KCNA5c.1151G>T (p.Gly384Val)
12g.5045299A=CA2013431177KCNA5c.1152A= (p.Gly384=)
12g.5045299A>CCA478095488KCNA5c.1152A>C (p.Gly384=)
12g.5045299A>GCA6399811KCNA5c.1152A>G (p.Gly384=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.5045299A>TCA478095489KCNA5c.1152A>T (p.Gly384=)
gnomAD v4
12g.5045300G>ACA383465884KCNA5c.1153G>A (p.Gly385Arg)
12g.5045300G>CCA383465885KCNA5c.1153G>C (p.Gly385Arg)
ClinVar dbSNP gnomAD v4
12g.5045300G=CA2013431178KCNA5c.1153G= (p.Gly385=)
12g.5045300G>TCA383465886KCNA5c.1153G>T (p.Gly385Ter)
12g.5045301G>ACA383465889KCNA5c.1154G>A (p.Gly385Glu)
ClinVar dbSNP gnomAD v4 COSMIC
12g.5045301G>CCA383465888KCNA5c.1154G>C (p.Gly385Ala)
12g.5045301G=CA2013431179KCNA5c.1154G= (p.Gly385=)
12g.5045301G>TCA383465887KCNA5c.1154G>T (p.Gly385Val)
12g.5045302A>CCA478095493KCNA5c.1155A>C (p.Gly385=)
12g.5045302A>GCA478095494KCNA5c.1155A>G (p.Gly385=)
gnomAD v4
12g.5045302A>TCA478095495KCNA5c.1155A>T (p.Gly385=)
12g.5045303G>ACA6399812KCNA5c.1156G>A (p.Gly386Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5045303G>CCA383465890KCNA5c.1156G>C (p.Gly386Arg)
12g.5045303G=CA2013431180KCNA5c.1156G= (p.Gly386=)
12g.5045303G>TCA383465891KCNA5c.1156G>T (p.Gly386Cys)
12g.5045303_5045308delCA2575052196KCNA5c.1156_1161del (p.Gly386_Gly387del)
12g.5045304G>ACA383465892KCNA5c.1157G>A (p.Gly386Asp)
12g.5045304G>CCA383465893KCNA5c.1157G>C (p.Gly386Ala)
12g.5045304G>TCA383465894KCNA5c.1157G>T (p.Gly386Val)
gnomAD v4

Number of alleles fetched