Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.99600566C>ACA357507863MTTPc.1069C>A (p.Pro357Thr)
c.820C>A (p.Pro274Thr)
c.1150C>A (p.Pro384Thr)
4g.99600566C>GCA357507864MTTPc.1069C>G (p.Pro357Ala)
c.820C>G (p.Pro274Ala)
c.1150C>G (p.Pro384Ala)
4g.99600566C>TCA357507865MTTPc.1069C>T (p.Pro357Ser)
c.820C>T (p.Pro274Ser)
c.1150C>T (p.Pro384Ser)
4g.99600567C>ACA357507866MTTPc.1070C>A (p.Pro357His)
c.821C>A (p.Pro274His)
c.1151C>A (p.Pro384His)
4g.99600567C>GCA357507867MTTPc.1070C>G (p.Pro357Arg)
c.821C>G (p.Pro274Arg)
c.1151C>G (p.Pro384Arg)
 gnomAD v4
4g.99600567C>TCA357507868MTTPc.1070C>T (p.Pro357Leu)
c.821C>T (p.Pro274Leu)
c.1151C>T (p.Pro384Leu)
4g.99600568T>ACA440329962MTTPc.1071T>A (p.Pro357=)
c.822T>A (p.Pro274=)
c.1152T>A (p.Pro384=)
4g.99600568T>CCA440329961MTTPc.1071T>C (p.Pro357=)
c.822T>C (p.Pro274=)
c.1152T>C (p.Pro384=)
 dbSNP gnomAD v3 gnomAD v4
4g.99600568T>GCA440329960MTTPc.1071T>G (p.Pro357=)
c.822T>G (p.Pro274=)
c.1152T>G (p.Pro384=)
4g.99600568T=CA1480079146MTTPc.1071T= (p.Pro357=)
c.822T= (p.Pro274=)
c.1152T= (p.Pro384=)
4g.99600569C>ACA357507869MTTPc.1072C>A (p.Gln358Lys)
c.823C>A (p.Gln275Lys)
c.1153C>A (p.Gln385Lys)
4g.99600569C=CA1480079147MTTPc.1072C= (p.Gln358=)
c.823C= (p.Gln275=)
c.1153C= (p.Gln385=)
4g.99600569C>GCA357507870MTTPc.1072C>G (p.Gln358Glu)
c.823C>G (p.Gln275Glu)
c.1153C>G (p.Gln385Glu)
4g.99600569C>TCA357507871MTTPc.1072C>T (p.Gln358Ter)
c.823C>T (p.Gln275Ter)
c.1153C>T (p.Gln385Ter)
 dbSNP COSMIC
4g.99600570A>CCA357507872MTTPc.1073A>C (p.Gln358Pro)
c.824A>C (p.Gln275Pro)
c.1154A>C (p.Gln385Pro)
4g.99600570A>GCA357507873MTTPc.1073A>G (p.Gln358Arg)
c.824A>G (p.Gln275Arg)
c.1154A>G (p.Gln385Arg)
4g.99600570A>TCA357507874MTTPc.1073A>T (p.Gln358Leu)
c.824A>T (p.Gln275Leu)
c.1154A>T (p.Gln385Leu)
4g.99600571G>ACA440329963MTTPc.1074G>A (p.Gln358=)
c.825G>A (p.Gln275=)
c.1155G>A (p.Gln385=)
 gnomAD v4
4g.99600571G>CCA102631330MTTPc.1074G>C (p.Gln358His)
c.825G>C (p.Gln275His)
c.1155G>C (p.Gln385His)
 dbSNP gnomAD v3 gnomAD v4
4g.99600571G=CA1480079148MTTPc.1074G= (p.Gln358=)
c.825G= (p.Gln275=)
c.1155G= (p.Gln385=)
4g.99600571G>TCA357507875MTTPc.1074G>T (p.Gln358His)
c.825G>T (p.Gln275His)
c.1155G>T (p.Gln385His)
4g.99600572C>ACA357507876MTTPc.1075C>A (p.Leu359Met)
c.826C>A (p.Leu276Met)
c.1156C>A (p.Leu386Met)
 gnomAD v4
4g.99600572C>GCA357507877MTTPc.1075C>G (p.Leu359Val)
c.826C>G (p.Leu276Val)
c.1156C>G (p.Leu386Val)
4g.99600572C>TCA440329964MTTPc.1075C>T (p.Leu359=)
c.826C>T (p.Leu276=)
c.1156C>T (p.Leu386=)
4g.99600572_99600579delinsCTGGTGGACA1480079149MTTPc.1075_1082delinsCTGGTGGA (p.Leu359=)
c.826_833delinsCTGGTGGA (p.Leu276=)
c.1156_1163delinsCTGGTGGA (p.Leu386=)
4g.99600573delCA2671534167MTTPc.1076del (p.Leu359ArgfsTer14)
c.827del (p.Leu276ArgfsTer14)
c.1157del (p.Leu386ArgfsTer14)
 gnomAD v4
4g.99600573T>ACA357507878MTTPc.1076T>A (p.Leu359Gln)
c.827T>A (p.Leu276Gln)
c.1157T>A (p.Leu386Gln)
4g.99600573T>CCA357507879MTTPc.1076T>C (p.Leu359Pro)
c.827T>C (p.Leu276Pro)
c.1157T>C (p.Leu386Pro)
 gnomAD v4
4g.99600573T>GCA357507880MTTPc.1076T>G (p.Leu359Arg)
c.827T>G (p.Leu276Arg)
c.1157T>G (p.Leu386Arg)
4g.99600575_99600581delCA553568412MTTPc.1078_1084del (p.Val360LeufsTer11)
c.829_835del (p.Val277LeufsTer11)
c.1159_1165del (p.Val387LeufsTer11)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99600574G>ACA440329965MTTPc.1077G>A (p.Leu359=)
c.828G>A (p.Leu276=)
c.1158G>A (p.Leu386=)
 dbSNP gnomAD v2 gnomAD v4
4g.99600574G>CCA3022031MTTPc.1077G>C (p.Leu359=)
c.828G>C (p.Leu276=)
c.1158G>C (p.Leu386=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.99600574G=CA1480079150MTTPc.1077G= (p.Leu359=)
c.828G= (p.Leu276=)
c.1158G= (p.Leu386=)
4g.99600574G>TCA440329966MTTPc.1077G>T (p.Leu359=)
c.828G>T (p.Leu276=)
c.1158G>T (p.Leu386=)
4g.99600575G>ACA3022032MTTPc.1078G>A (p.Val360Met)
c.829G>A (p.Val277Met)
c.1159G>A (p.Val387Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99600575G>CCA357507881MTTPc.1078G>C (p.Val360Leu)
c.829G>C (p.Val277Leu)
c.1159G>C (p.Val387Leu)
4g.99600575G=CA1480079151MTTPc.1078G= (p.Val360=)
c.829G= (p.Val277=)
c.1159G= (p.Val387=)
4g.99600575G>TCA357507882MTTPc.1078G>T (p.Val360Leu)
c.829G>T (p.Val277Leu)
c.1159G>T (p.Val387Leu)
4g.99600576T>ACA357507883MTTPc.1079T>A (p.Val360Glu)
c.830T>A (p.Val277Glu)
c.1160T>A (p.Val387Glu)
4g.99600576T>CCA357507884MTTPc.1079T>C (p.Val360Ala)
c.830T>C (p.Val277Ala)
c.1160T>C (p.Val387Ala)
4g.99600576T>GCA357507885MTTPc.1079T>G (p.Val360Gly)
c.830T>G (p.Val277Gly)
c.1160T>G (p.Val387Gly)
4g.99600577G>ACA440329967MTTPc.1080G>A (p.Val360=)
c.831G>A (p.Val277=)
c.1161G>A (p.Val387=)
 ClinVar
4g.99600577G>CCA440329968MTTPc.1080G>C (p.Val360=)
c.831G>C (p.Val277=)
c.1161G>C (p.Val387=)
4g.99600577G>TCA440329969MTTPc.1080G>T (p.Val360=)
c.831G>T (p.Val277=)
c.1161G>T (p.Val387=)
4g.99600577_99600578delinsAACA645520127MTTPc.1080_1081delinsAA (p.Asp361Asn)
c.831_832delinsAA (p.Asp278Asn)
c.1161_1162delinsAA (p.Asp388Asn)
 COSMIC
4g.99600578G>ACA357507886MTTPc.1081G>A (p.Asp361Asn)
c.832G>A (p.Asp278Asn)
c.1162G>A (p.Asp388Asn)
4g.99600578G>CCA357507888MTTPc.1081G>C (p.Asp361His)
c.832G>C (p.Asp278His)
c.1162G>C (p.Asp388His)
 gnomAD v4
4g.99600578G>TCA357507887MTTPc.1081G>T (p.Asp361Tyr)
c.832G>T (p.Asp278Tyr)
c.1162G>T (p.Asp388Tyr)
4g.99600579A>CCA357507889MTTPc.1082A>C (p.Asp361Ala)
c.833A>C (p.Asp278Ala)
c.1163A>C (p.Asp388Ala)
4g.99600579A>GCA357507891MTTPc.1082A>G (p.Asp361Gly)
c.833A>G (p.Asp278Gly)
c.1163A>G (p.Asp388Gly)
4g.99600579A>TCA357507894MTTPc.1082A>T (p.Asp361Val)
c.833A>T (p.Asp278Val)
c.1163A>T (p.Asp388Val)
4g.99600580T>ACA357507895MTTPc.1083T>A (p.Asp361Glu)
c.834T>A (p.Asp278Glu)
c.1164T>A (p.Asp388Glu)
4g.99600580T>CCA440329970MTTPc.1083T>C (p.Asp361=)
c.834T>C (p.Asp278=)
c.1164T>C (p.Asp388=)
4g.99600580T>GCA357507898MTTPc.1083T>G (p.Asp361Glu)
c.834T>G (p.Asp278Glu)
c.1164T>G (p.Asp388Glu)
4g.99600581G>ACA3022033MTTPc.1084G>A (p.Ala362Thr)
c.835G>A (p.Ala279Thr)
c.1165G>A (p.Ala389Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99600581G>CCA357507900MTTPc.1084G>C (p.Ala362Pro)
c.835G>C (p.Ala279Pro)
c.1165G>C (p.Ala389Pro)
4g.99600581G=CA1480079152MTTPc.1084G= (p.Ala362=)
c.835G= (p.Ala279=)
c.1165G= (p.Ala389=)
4g.99600581G>TCA357507902MTTPc.1084G>T (p.Ala362Ser)
c.835G>T (p.Ala279Ser)
c.1165G>T (p.Ala389Ser)
4g.99600582C>ACA357507905MTTPc.1085C>A (p.Ala362Asp)
c.836C>A (p.Ala279Asp)
c.1166C>A (p.Ala389Asp)
 COSMIC
4g.99600582C>GCA357507907MTTPc.1085C>G (p.Ala362Gly)
c.836C>G (p.Ala279Gly)
c.1166C>G (p.Ala389Gly)
 gnomAD v4
4g.99600582C>TCA357507908MTTPc.1085C>T (p.Ala362Val)
c.836C>T (p.Ala279Val)
c.1166C>T (p.Ala389Val)
4g.99600583T>ACA440329971MTTPc.1086T>A (p.Ala362=)
c.837T>A (p.Ala279=)
c.1167T>A (p.Ala389=)
 gnomAD v4
4g.99600583T>CCA440329972MTTPc.1086T>C (p.Ala362=)
c.837T>C (p.Ala279=)
c.1167T>C (p.Ala389=)
4g.99600583T>GCA440329973MTTPc.1086T>G (p.Ala362=)
c.837T>G (p.Ala279=)
c.1167T>G (p.Ala389=)
4g.99600584G>ACA357507913MTTPc.1087G>A (p.Val363Ile)
c.838G>A (p.Val280Ile)
c.1168G>A (p.Val390Ile)
 dbSNP
4g.99600584G>CCA357507911MTTPc.1087G>C (p.Val363Leu)
c.838G>C (p.Val280Leu)
c.1168G>C (p.Val390Leu)
 dbSNP
4g.99600584G=CA1480079153MTTPc.1087G= (p.Val363=)
c.838G= (p.Val280=)
c.1168G= (p.Val390=)
4g.99600584G>TCA357507910MTTPc.1087G>T (p.Val363Phe)
c.838G>T (p.Val280Phe)
c.1168G>T (p.Val390Phe)
4g.99600585T>ACA357507915MTTPc.1088T>A (p.Val363Asp)
c.839T>A (p.Val280Asp)
c.1169T>A (p.Val390Asp)
4g.99600585T>CCA357507917MTTPc.1088T>C (p.Val363Ala)
c.839T>C (p.Val280Ala)
c.1169T>C (p.Val390Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.99600585T>GCA357507927MTTPc.1088T>G (p.Val363Gly)
c.839T>G (p.Val280Gly)
c.1169T>G (p.Val390Gly)
4g.99600585T=CA1480079154MTTPc.1088T= (p.Val363=)
c.839T= (p.Val280=)
c.1169T= (p.Val390=)
4g.99600586C>ACA440329974MTTPc.1089C>A (p.Val363=)
c.840C>A (p.Val280=)
c.1170C>A (p.Val390=)
4g.99600586C>GCA440329975MTTPc.1089C>G (p.Val363=)
c.840C>G (p.Val280=)
c.1170C>G (p.Val390=)
4g.99600586C>TCA440329976MTTPc.1089C>T (p.Val363=)
c.840C>T (p.Val280=)
c.1170C>T (p.Val390=)
4g.99600587A>CCA357507930MTTPc.1090A>C (p.Thr364Pro)
c.841A>C (p.Thr281Pro)
c.1171A>C (p.Thr391Pro)
4g.99600587A>GCA357507931MTTPc.1090A>G (p.Thr364Ala)
c.841A>G (p.Thr281Ala)
c.1171A>G (p.Thr391Ala)
4g.99600587A>TCA357507932MTTPc.1090A>T (p.Thr364Ser)
c.841A>T (p.Thr281Ser)
c.1171A>T (p.Thr391Ser)
4g.99600588C>ACA357507934MTTPc.1091C>A (p.Thr364Asn)
c.842C>A (p.Thr281Asn)
c.1172C>A (p.Thr391Asn)
4g.99600588C>GCA357507936MTTPc.1091C>G (p.Thr364Ser)
c.842C>G (p.Thr281Ser)
c.1172C>G (p.Thr391Ser)
4g.99600588C>TCA357507939MTTPc.1091C>T (p.Thr364Ile)
c.842C>T (p.Thr281Ile)
c.1172C>T (p.Thr391Ile)
4g.99600589delCA2695203656MTTPc.1092del (p.Ser365LeufsTer8)
c.843del (p.Ser282LeufsTer8)
c.1173del (p.Ser392LeufsTer8)
4g.99600589C>ACA440329977MTTPc.1092C>A (p.Thr364=)
c.843C>A (p.Thr281=)
c.1173C>A (p.Thr391=)
4g.99600589C>GCA440329978MTTPc.1092C>G (p.Thr364=)
c.843C>G (p.Thr281=)
c.1173C>G (p.Thr391=)
4g.99600589C>TCA440329979MTTPc.1092C>T (p.Thr364=)
c.843C>T (p.Thr281=)
c.1173C>T (p.Thr391=)
4g.99600590T>ACA357507942MTTPc.1093T>A (p.Ser365Thr)
c.844T>A (p.Ser282Thr)
c.1174T>A (p.Ser392Thr)
4g.99600590T>CCA357507944MTTPc.1093T>C (p.Ser365Pro)
c.844T>C (p.Ser282Pro)
c.1174T>C (p.Ser392Pro)
4g.99600590T>GCA357507946MTTPc.1093T>G (p.Ser365Ala)
c.844T>G (p.Ser282Ala)
c.1174T>G (p.Ser392Ala)
4g.99600591C>ACA357507950MTTPc.1094C>A (p.Ser365Tyr)
c.845C>A (p.Ser282Tyr)
c.1175C>A (p.Ser392Tyr)
4g.99600591C>GCA357507952MTTPc.1094C>G (p.Ser365Cys)
c.845C>G (p.Ser282Cys)
c.1175C>G (p.Ser392Cys)
4g.99600591C>TCA357507948MTTPc.1094C>T (p.Ser365Phe)
c.845C>T (p.Ser282Phe)
c.1175C>T (p.Ser392Phe)
4g.99600592T>ACA440329982MTTPc.1095T>A (p.Ser365=)
c.846T>A (p.Ser282=)
c.1176T>A (p.Ser392=)
4g.99600592T>CCA440329981MTTPc.1095T>C (p.Ser365=)
c.846T>C (p.Ser282=)
c.1176T>C (p.Ser392=)
4g.99600592T>GCA440329980MTTPc.1095T>G (p.Ser365=)
c.846T>G (p.Ser282=)
c.1176T>G (p.Ser392=)
4g.99600593G>ACA357507958MTTPc.1096G>A (p.Ala366Thr)
c.847G>A (p.Ala283Thr)
c.1177G>A (p.Ala393Thr)
4g.99600593G>CCA357507954MTTPc.1096G>C (p.Ala366Pro)
c.847G>C (p.Ala283Pro)
c.1177G>C (p.Ala393Pro)
4g.99600593G>TCA357507956MTTPc.1096G>T (p.Ala366Ser)
c.847G>T (p.Ala283Ser)
c.1177G>T (p.Ala393Ser)
4g.99600594C>ACA357507960MTTPc.1097C>A (p.Ala366Asp)
c.848C>A (p.Ala283Asp)
c.1178C>A (p.Ala393Asp)
4g.99600594C>GCA357507962MTTPc.1097C>G (p.Ala366Gly)
c.848C>G (p.Ala283Gly)
c.1178C>G (p.Ala393Gly)
4g.99600594C>TCA357507963MTTPc.1097C>T (p.Ala366Val)
c.848C>T (p.Ala283Val)
c.1178C>T (p.Ala393Val)
4g.99600595T>ACA440329983MTTPc.1098T>A (p.Ala366=)
c.849T>A (p.Ala283=)
c.1179T>A (p.Ala393=)
4g.99600595T>CCA440329984MTTPc.1098T>C (p.Ala366=)
c.849T>C (p.Ala283=)
c.1179T>C (p.Ala393=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.99600595T>GCA440329985MTTPc.1098T>G (p.Ala366=)
c.849T>G (p.Ala283=)
c.1179T>G (p.Ala393=)
4g.99600595T=CA1480079155MTTPc.1098T= (p.Ala366=)
c.849T= (p.Ala283=)
c.1179T= (p.Ala393=)
4g.99600596C>ACA357507965MTTPc.1099C>A (p.Gln367Lys)
c.850C>A (p.Gln284Lys)
c.1180C>A (p.Gln394Lys)
4g.99600596C=CA1480079156MTTPc.1099C= (p.Gln367=)
c.850C= (p.Gln284=)
c.1180C= (p.Gln394=)
4g.99600596C>GCA357507967MTTPc.1099C>G (p.Gln367Glu)
c.850C>G (p.Gln284Glu)
c.1180C>G (p.Gln394Glu)
4g.99600596C>TCA357507969MTTPc.1099C>T (p.Gln367Ter)
c.850C>T (p.Gln284Ter)
c.1180C>T (p.Gln394Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99600597A>CCA357507971MTTPc.1100A>C (p.Gln367Pro)
c.851A>C (p.Gln284Pro)
c.1181A>C (p.Gln394Pro)
4g.99600597A>GCA357507973MTTPc.1100A>G (p.Gln367Arg)
c.851A>G (p.Gln284Arg)
c.1181A>G (p.Gln394Arg)
4g.99600597A>TCA357507975MTTPc.1100A>T (p.Gln367Leu)
c.851A>T (p.Gln284Leu)
c.1181A>T (p.Gln394Leu)
4g.99600598G>ACA440329986MTTPc.1101G>A (p.Gln367=)
c.852G>A (p.Gln284=)
c.1182G>A (p.Gln394=)
4g.99600598G>CCA357507978MTTPc.1101G>C (p.Gln367His)
c.852G>C (p.Gln284His)
c.1182G>C (p.Gln394His)
4g.99600598G>TCA357507980MTTPc.1101G>T (p.Gln367His)
c.852G>T (p.Gln284His)
c.1182G>T (p.Gln394His)
4g.99600599A>CCA357507984MTTPc.1102A>C (p.Thr368Pro)
c.853A>C (p.Thr285Pro)
c.1183A>C (p.Thr395Pro)
4g.99600599A>GCA357507982MTTPc.1102A>G (p.Thr368Ala)
c.853A>G (p.Thr285Ala)
c.1183A>G (p.Thr395Ala)
4g.99600599A>TCA357507983MTTPc.1102A>T (p.Thr368Ser)
c.853A>T (p.Thr285Ser)
c.1183A>T (p.Thr395Ser)
4g.99600600C>ACA357507985MTTPc.1103C>A (p.Thr368Asn)
c.854C>A (p.Thr285Asn)
c.1184C>A (p.Thr395Asn)
4g.99600600C>GCA357507986MTTPc.1103C>G (p.Thr368Ser)
c.854C>G (p.Thr285Ser)
c.1184C>G (p.Thr395Ser)
 gnomAD v4
4g.99600600C>TCA357507987MTTPc.1103C>T (p.Thr368Ile)
c.854C>T (p.Thr285Ile)
c.1184C>T (p.Thr395Ile)
4g.99600601C>ACA440329987MTTPc.1104C>A (p.Thr368=)
c.855C>A (p.Thr285=)
c.1185C>A (p.Thr395=)
4g.99600601C>GCA440329988MTTPc.1104C>G (p.Thr368=)
c.855C>G (p.Thr285=)
c.1185C>G (p.Thr395=)
4g.99600601C>TCA440329989MTTPc.1104C>T (p.Thr368=)
c.855C>T (p.Thr285=)
c.1185C>T (p.Thr395=)
 ClinVar dbSNP COSMIC
4g.99600602T>ACA357507989MTTPc.1105T>A (p.Ser369Thr)
c.856T>A (p.Ser286Thr)
c.1186T>A (p.Ser396Thr)
4g.99600602T>CCA357507991MTTPc.1105T>C (p.Ser369Pro)
c.856T>C (p.Ser286Pro)
c.1186T>C (p.Ser396Pro)
 gnomAD v3 gnomAD v4
4g.99600602T>GCA357507993MTTPc.1105T>G (p.Ser369Ala)
c.856T>G (p.Ser286Ala)
c.1186T>G (p.Ser396Ala)
4g.99600603C>ACA357507995MTTPc.1106C>A (p.Ser369Ter)
c.857C>A (p.Ser286Ter)
c.1187C>A (p.Ser396Ter)
 ClinVar
4g.99600603C>GCA357507996MTTPc.1106C>G (p.Ser369Ter)
c.857C>G (p.Ser286Ter)
c.1187C>G (p.Ser396Ter)
4g.99600603C>TCA357507999MTTPc.1106C>T (p.Ser369Leu)
c.857C>T (p.Ser286Leu)
c.1187C>T (p.Ser396Leu)
4g.99600604A=CA1480079157MTTPc.1107A= (p.Ser369=)
c.858A= (p.Ser286=)
c.1188A= (p.Ser396=)
4g.99600604A>CCA440329990MTTPc.1107A>C (p.Ser369=)
c.858A>C (p.Ser286=)
c.1188A>C (p.Ser396=)
4g.99600604A>GCA440329992MTTPc.1107A>G (p.Ser369=)
c.858A>G (p.Ser286=)
c.1188A>G (p.Ser396=)
4g.99600604A>TCA440329991MTTPc.1107A>T (p.Ser369=)
c.858A>T (p.Ser286=)
c.1188A>T (p.Ser396=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99600604dupCA2578152333MTTPc.1107dup (p.Asp370ArgfsTer15)
c.858dup (p.Asp287ArgfsTer15)
c.1188dup (p.Asp397ArgfsTer15)
4g.99600605G>ACA357508001MTTPc.1108G>A (p.Asp370Asn)
c.859G>A (p.Asp287Asn)
c.1189G>A (p.Asp397Asn)
 gnomAD v4
4g.99600605G>CCA357508002MTTPc.1108G>C (p.Asp370His)
c.859G>C (p.Asp287His)
c.1189G>C (p.Asp397His)
4g.99600605G>TCA357508004MTTPc.1108G>T (p.Asp370Tyr)
c.859G>T (p.Asp287Tyr)
c.1189G>T (p.Asp397Tyr)
4g.99600606A=CA1480079158MTTPc.1109A= (p.Asp370=)
c.860A= (p.Asp287=)
c.1190A= (p.Asp397=)
4g.99600606A>CCA357508008MTTPc.1109A>C (p.Asp370Ala)
c.860A>C (p.Asp287Ala)
c.1190A>C (p.Asp397Ala)
4g.99600606A>GCA357508005MTTPc.1109A>G (p.Asp370Gly)
c.860A>G (p.Asp287Gly)
c.1190A>G (p.Asp397Gly)
4g.99600606A>TCA3022034MTTPc.1109A>T (p.Asp370Val)
c.860A>T (p.Asp287Val)
c.1190A>T (p.Asp397Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99600607C>ACA357508010MTTPc.1110C>A (p.Asp370Glu)
c.861C>A (p.Asp287Glu)
c.1191C>A (p.Asp397Glu)
4g.99600607C>GCA357508011MTTPc.1110C>G (p.Asp370Glu)
c.861C>G (p.Asp287Glu)
c.1191C>G (p.Asp397Glu)
4g.99600607C>TCA440329993MTTPc.1110C>T (p.Asp370=)
c.861C>T (p.Asp287=)
c.1191C>T (p.Asp397=)
 gnomAD v4
4g.99600608T>ACA357508013MTTPc.1111T>A (p.Ser371Thr)
c.862T>A (p.Ser288Thr)
c.1192T>A (p.Ser398Thr)
4g.99600608T>CCA357508014MTTPc.1111T>C (p.Ser371Pro)
c.862T>C (p.Ser288Pro)
c.1192T>C (p.Ser398Pro)
 gnomAD v4
4g.99600608T>GCA357508017MTTPc.1111T>G (p.Ser371Ala)
c.862T>G (p.Ser288Ala)
c.1192T>G (p.Ser398Ala)
4g.99600608_99600618delinsTCATTAGAAGCCA1480079159MTTPc.1111_1121delinsTCATTAGAAGC (p.Ser371=)
c.862_872delinsTCATTAGAAGC (p.Ser288=)
c.1192_1202delinsTCATTAGAAGC (p.Ser398=)
4g.99600609C>ACA357508018MTTPc.1112C>A (p.Ser371Ter)
c.863C>A (p.Ser288Ter)
c.1193C>A (p.Ser398Ter)
4g.99600609C>GCA357508020MTTPc.1112C>G (p.Ser371Ter)
c.863C>G (p.Ser288Ter)
c.1193C>G (p.Ser398Ter)
4g.99600609C>TCA357508022MTTPc.1112C>T (p.Ser371Leu)
c.863C>T (p.Ser288Leu)
c.1193C>T (p.Ser398Leu)
 gnomAD v4
4g.99600613_99600622delCA916082653MTTPc.1116_1125del (p.Leu372PhefsTer?)
c.867_876del (p.Leu289PhefsTer?)
c.1197_1206del (p.Leu399PhefsTer?)
 ClinVar dbSNP
4g.99600610A>CCA440329994MTTPc.1113A>C (p.Ser371=)
c.864A>C (p.Ser288=)
c.1194A>C (p.Ser398=)
4g.99600610A>GCA440329995MTTPc.1113A>G (p.Ser371=)
c.864A>G (p.Ser288=)
c.1194A>G (p.Ser398=)
4g.99600610A>TCA440329996MTTPc.1113A>T (p.Ser371=)
c.864A>T (p.Ser288=)
c.1194A>T (p.Ser398=)
4g.99600611T>ACA357508024MTTPc.1114T>A (p.Leu372Ile)
c.865T>A (p.Leu289Ile)
c.1195T>A (p.Leu399Ile)
4g.99600611T>CCA440329997MTTPc.1114T>C (p.Leu372=)
c.865T>C (p.Leu289=)
c.1195T>C (p.Leu399=)
4g.99600611T>GCA357508026MTTPc.1114T>G (p.Leu372Val)
c.865T>G (p.Leu289Val)
c.1195T>G (p.Leu399Val)
4g.99600612T>ACA357508028MTTPc.1115T>A (p.Leu372Ter)
c.866T>A (p.Leu289Ter)
c.1196T>A (p.Leu399Ter)
4g.99600612T>CCA357508029MTTPc.1115T>C (p.Leu372Ser)
c.866T>C (p.Leu289Ser)
c.1196T>C (p.Leu399Ser)
4g.99600612T>GCA357508035MTTPc.1115T>G (p.Leu372Ter)
c.866T>G (p.Leu289Ter)
c.1196T>G (p.Leu399Ter)
4g.99600613A>CCA357508041MTTPc.1116A>C (p.Leu372Phe)
c.867A>C (p.Leu289Phe)
c.1197A>C (p.Leu399Phe)
4g.99600613A>GCA440329998MTTPc.1116A>G (p.Leu372=)
c.867A>G (p.Leu289=)
c.1197A>G (p.Leu399=)
4g.99600613A>TCA357508039MTTPc.1116A>T (p.Leu372Phe)
c.867A>T (p.Leu289Phe)
c.1197A>T (p.Leu399Phe)
4g.99600614G>ACA357508043MTTPc.1117G>A (p.Glu373Lys)
c.868G>A (p.Glu290Lys)
c.1198G>A (p.Glu400Lys)
4g.99600614G>CCA357508044MTTPc.1117G>C (p.Glu373Gln)
c.868G>C (p.Glu290Gln)
c.1198G>C (p.Glu400Gln)
 dbSNP
4g.99600614G=CA1480079160MTTPc.1117G= (p.Glu373=)
c.868G= (p.Glu290=)
c.1198G= (p.Glu400=)
4g.99600614G>TCA357508046MTTPc.1117G>T (p.Glu373Ter)
c.868G>T (p.Glu290Ter)
c.1198G>T (p.Glu400Ter)
 ClinVar dbSNP
4g.99600615A>CCA357508049MTTPc.1118A>C (p.Glu373Ala)
c.869A>C (p.Glu290Ala)
c.1199A>C (p.Glu400Ala)
4g.99600615A>GCA357508051MTTPc.1118A>G (p.Glu373Gly)
c.869A>G (p.Glu290Gly)
c.1199A>G (p.Glu400Gly)
4g.99600615A>TCA357508053MTTPc.1118A>T (p.Glu373Val)
c.869A>T (p.Glu290Val)
c.1199A>T (p.Glu400Val)
4g.99600616A>CCA357508054MTTPc.1119A>C (p.Glu373Asp)
c.870A>C (p.Glu290Asp)
c.1200A>C (p.Glu400Asp)
4g.99600616A>GCA440329999MTTPc.1119A>G (p.Glu373=)
c.870A>G (p.Glu290=)
c.1200A>G (p.Glu400=)
 ClinVar
4g.99600616A>TCA357508055MTTPc.1119A>T (p.Glu373Asp)
c.870A>T (p.Glu290Asp)
c.1200A>T (p.Glu400Asp)
4g.99600617G>ACA3022035MTTPc.1120G>A (p.Ala374Thr)
c.871G>A (p.Ala291Thr)
c.1201G>A (p.Ala401Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99600617G>CCA357508057MTTPc.1120G>C (p.Ala374Pro)
c.871G>C (p.Ala291Pro)
c.1201G>C (p.Ala401Pro)
4g.99600617G=CA1480079161MTTPc.1120G= (p.Ala374=)
c.871G= (p.Ala291=)
c.1201G= (p.Ala401=)
4g.99600617G>TCA357508059MTTPc.1120G>T (p.Ala374Ser)
c.871G>T (p.Ala291Ser)
c.1201G>T (p.Ala401Ser)
 COSMIC
4g.99600618C>ACA357508062MTTPc.1121C>A (p.Ala374Asp)
c.872C>A (p.Ala291Asp)
c.1202C>A (p.Ala401Asp)
4g.99600618C>GCA357508063MTTPc.1121C>G (p.Ala374Gly)
c.872C>G (p.Ala291Gly)
c.1202C>G (p.Ala401Gly)
4g.99600618C>TCA357508065MTTPc.1121C>T (p.Ala374Val)
c.872C>T (p.Ala291Val)
c.1202C>T (p.Ala401Val)
4g.99600619C>ACA440330000MTTPc.1122C>A (p.Ala374=)
c.873C>A (p.Ala291=)
c.1203C>A (p.Ala401=)
4g.99600619C=CA1480079162MTTPc.1122C= (p.Ala374=)
c.873C= (p.Ala291=)
c.1203C= (p.Ala401=)
4g.99600619C>GCA440330001MTTPc.1122C>G (p.Ala374=)
c.873C>G (p.Ala291=)
c.1203C>G (p.Ala401=)
4g.99600619C>TCA440330002MTTPc.1122C>T (p.Ala374=)
c.873C>T (p.Ala291=)
c.1203C>T (p.Ala401=)
 dbSNP
4g.99600620A=CA1480079163MTTPc.1123A= (p.Ile375=)
c.874A= (p.Ile292=)
c.1204A= (p.Ile402=)
4g.99600620A>CCA357508069MTTPc.1123A>C (p.Ile375Leu)
c.874A>C (p.Ile292Leu)
c.1204A>C (p.Ile402Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.99600620A>GCA102631373MTTPc.1123A>G (p.Ile375Val)
c.874A>G (p.Ile292Val)
c.1204A>G (p.Ile402Val)
 dbSNP
4g.99600620A>TCA357508067MTTPc.1123A>T (p.Ile375Phe)
c.874A>T (p.Ile292Phe)
c.1204A>T (p.Ile402Phe)
4g.99600621T>ACA357508072MTTPc.1124T>A (p.Ile375Asn)
c.875T>A (p.Ile292Asn)
c.1205T>A (p.Ile402Asn)
4g.99600621T>CCA357508073MTTPc.1124T>C (p.Ile375Thr)
c.875T>C (p.Ile292Thr)
c.1205T>C (p.Ile402Thr)
 dbSNP gnomAD v3 gnomAD v4
4g.99600621T>GCA357508075MTTPc.1124T>G (p.Ile375Ser)
c.875T>G (p.Ile292Ser)
c.1205T>G (p.Ile402Ser)
4g.99600621T=CA1480079164MTTPc.1124T= (p.Ile375=)
c.875T= (p.Ile292=)
c.1205T= (p.Ile402=)
4g.99600622T>ACA440330003MTTPc.1125T>A (p.Ile375=)
c.876T>A (p.Ile292=)
c.1206T>A (p.Ile402=)
4g.99600622T>CCA440330004MTTPc.1125T>C (p.Ile375=)
c.876T>C (p.Ile292=)
c.1206T>C (p.Ile402=)
4g.99600622T>GCA357508078MTTPc.1125T>G (p.Ile375Met)
c.876T>G (p.Ile292Met)
c.1206T>G (p.Ile402Met)
4g.99600623T>ACA357508079MTTPc.1126T>A (p.Leu376Met)
c.877T>A (p.Leu293Met)
c.1207T>A (p.Leu403Met)
4g.99600623T>CCA440330005MTTPc.1126T>C (p.Leu376=)
c.877T>C (p.Leu293=)
c.1207T>C (p.Leu403=)
4g.99600623T>GCA357508081MTTPc.1126T>G (p.Leu376Val)
c.877T>G (p.Leu293Val)
c.1207T>G (p.Leu403Val)
4g.99600624T>ACA357508089MTTPc.1127T>A (p.Leu376Ter)
c.878T>A (p.Leu293Ter)
c.1208T>A (p.Leu403Ter)
4g.99600624T>CCA357508083MTTPc.1127T>C (p.Leu376Ser)
c.878T>C (p.Leu293Ser)
c.1208T>C (p.Leu403Ser)
 ClinVar dbSNP gnomAD v4
4g.99600624T>GCA357508086MTTPc.1127T>G (p.Leu376Trp)
c.878T>G (p.Leu293Trp)
c.1208T>G (p.Leu403Trp)
 COSMIC
4g.99600624T=CA1480079165MTTPc.1127T= (p.Leu376=)
c.878T= (p.Leu293=)
c.1208T= (p.Leu403=)
4g.99600625G>ACA440330006MTTPc.1128G>A (p.Leu376=)
c.879G>A (p.Leu293=)
c.1209G>A (p.Leu403=)
4g.99600625G>CCA357508092MTTPc.1128G>C (p.Leu376Phe)
c.879G>C (p.Leu293Phe)
c.1209G>C (p.Leu403Phe)
4g.99600625G>TCA357508093MTTPc.1128G>T (p.Leu376Phe)
c.879G>T (p.Leu293Phe)
c.1209G>T (p.Leu403Phe)
4g.99600626G>ACA357508096MTTPc.1129G>A (p.Asp377Asn)
c.880G>A (p.Asp294Asn)
c.1210G>A (p.Asp404Asn)
 gnomAD v4
4g.99600626G>CCA357508098MTTPc.1129G>C (p.Asp377His)
c.880G>C (p.Asp294His)
c.1210G>C (p.Asp404His)
 gnomAD v4
4g.99600626G>TCA357508100MTTPc.1129G>T (p.Asp377Tyr)
c.880G>T (p.Asp294Tyr)
c.1210G>T (p.Asp404Tyr)
4g.99600627A>CCA357508105MTTPc.1130A>C (p.Asp377Ala)
c.881A>C (p.Asp294Ala)
c.1211A>C (p.Asp404Ala)
4g.99600627A>GCA357508102MTTPc.1130A>G (p.Asp377Gly)
c.881A>G (p.Asp294Gly)
c.1211A>G (p.Asp404Gly)
4g.99600627A>TCA357508103MTTPc.1130A>T (p.Asp377Val)
c.881A>T (p.Asp294Val)
c.1211A>T (p.Asp404Val)
4g.99600628C>ACA357508106MTTPc.1131C>A (p.Asp377Glu)
c.882C>A (p.Asp294Glu)
c.1212C>A (p.Asp404Glu)
4g.99600628C>GCA357508107MTTPc.1131C>G (p.Asp377Glu)
c.882C>G (p.Asp294Glu)
c.1212C>G (p.Asp404Glu)
4g.99600628C>TCA440330007MTTPc.1131C>T (p.Asp377=)
c.882C>T (p.Asp294=)
c.1212C>T (p.Asp404=)
4g.99600629T>ACA357508108MTTPc.1132T>A (p.Phe378Ile)
c.883T>A (p.Phe295Ile)
c.1213T>A (p.Phe405Ile)
4g.99600629T>CCA357508109MTTPc.1132T>C (p.Phe378Leu)
c.883T>C (p.Phe295Leu)
c.1213T>C (p.Phe405Leu)
4g.99600629T>GCA357508111MTTPc.1132T>G (p.Phe378Val)
c.883T>G (p.Phe295Val)
c.1213T>G (p.Phe405Val)
4g.99600630T>ACA357508113MTTPc.1133T>A (p.Phe378Tyr)
c.884T>A (p.Phe295Tyr)
c.1214T>A (p.Phe405Tyr)
4g.99600630T>CCA357508120MTTPc.1133T>C (p.Phe378Ser)
c.884T>C (p.Phe295Ser)
c.1214T>C (p.Phe405Ser)
4g.99600630T>GCA357508123MTTPc.1133T>G (p.Phe378Cys)
c.884T>G (p.Phe295Cys)
c.1214T>G (p.Phe405Cys)
4g.99600631T>ACA357508125MTTPc.1134T>A (p.Phe378Leu)
c.885T>A (p.Phe295Leu)
c.1215T>A (p.Phe405Leu)
4g.99600631T>CCA102631392MTTPc.1134T>C (p.Phe378=)
c.885T>C (p.Phe295=)
c.1215T>C (p.Phe405=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.99600631T>GCA357508127MTTPc.1134T>G (p.Phe378Leu)
c.885T>G (p.Phe295Leu)
c.1215T>G (p.Phe405Leu)
4g.99600631T=CA1480079166MTTPc.1134T= (p.Phe378=)
c.885T= (p.Phe295=)
c.1215T= (p.Phe405=)
4g.99600632T>ACA3022037MTTPc.1135T>A (p.Leu379Met)
c.886T>A (p.Leu296Met)
c.1216T>A (p.Leu406Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99600632T>CCA3022036MTTPc.1135T>C (p.Leu379=)
c.886T>C (p.Leu296=)
c.1216T>C (p.Leu406=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99600632T>GCA357508132MTTPc.1135T>G (p.Leu379Val)
c.886T>G (p.Leu296Val)
c.1216T>G (p.Leu406Val)
4g.99600632T=CA1480079167MTTPc.1135T= (p.Leu379=)
c.886T= (p.Leu296=)
c.1216T= (p.Leu406=)
4g.99600633T>ACA357508137MTTPc.1136T>A (p.Leu379Ter)
c.887T>A (p.Leu296Ter)
c.1217T>A (p.Leu406Ter)
4g.99600633T>CCA102631419MTTPc.1136T>C (p.Leu379Ser)
c.887T>C (p.Leu296Ser)
c.1217T>C (p.Leu406Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.99600633T>GCA357508135MTTPc.1136T>G (p.Leu379Trp)
c.887T>G (p.Leu296Trp)
c.1217T>G (p.Leu406Trp)
4g.99600633T=CA1480079168MTTPc.1136T= (p.Leu379=)
c.887T= (p.Leu296=)
c.1217T= (p.Leu406=)
4g.99600634G>ACA440330008MTTPc.1137G>A (p.Leu379=)
c.888G>A (p.Leu296=)
c.1218G>A (p.Leu406=)
4g.99600634G>CCA357508139MTTPc.1137G>C (p.Leu379Phe)
c.888G>C (p.Leu296Phe)
c.1218G>C (p.Leu406Phe)
4g.99600634G>TCA357508142MTTPc.1137G>T (p.Leu379Phe)
c.888G>T (p.Leu296Phe)
c.1218G>T (p.Leu406Phe)
4g.99600635G>ACA357508143MTTPc.1138G>A (p.Asp380Asn)
c.889G>A (p.Asp297Asn)
c.1219G>A (p.Asp407Asn)
4g.99600635G>CCA357508145MTTPc.1138G>C (p.Asp380His)
c.889G>C (p.Asp297His)
c.1219G>C (p.Asp407His)
4g.99600635G>TCA357508146MTTPc.1138G>T (p.Asp380Tyr)
c.889G>T (p.Asp297Tyr)
c.1219G>T (p.Asp407Tyr)
 gnomAD v4
4g.99600636A=CA1480079169MTTPc.1139A= (p.Asp380=)
c.890A= (p.Asp297=)
c.1220A= (p.Asp407=)
4g.99600636A>CCA357508148MTTPc.1139A>C (p.Asp380Ala)
c.890A>C (p.Asp297Ala)
c.1220A>C (p.Asp407Ala)
4g.99600636A>GCA357508150MTTPc.1139A>G (p.Asp380Gly)
c.890A>G (p.Asp297Gly)
c.1220A>G (p.Asp407Gly)
4g.99600636A>TCA102631426MTTPc.1139A>T (p.Asp380Val)
c.890A>T (p.Asp297Val)
c.1220A>T (p.Asp407Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.99600637T>ACA357508154MTTPc.1140T>A (p.Asp380Glu)
c.891T>A (p.Asp297Glu)
c.1221T>A (p.Asp407Glu)
4g.99600637T>CCA440330009MTTPc.1140T>C (p.Asp380=)
c.891T>C (p.Asp297=)
c.1221T>C (p.Asp407=)
4g.99600637T>GCA357508157MTTPc.1140T>G (p.Asp380Glu)
c.891T>G (p.Asp297Glu)
c.1221T>G (p.Asp407Glu)
4g.99600638T>ACA357508160MTTPc.1141T>A (p.Phe381Ile)
c.892T>A (p.Phe298Ile)
c.1222T>A (p.Phe408Ile)
4g.99600638T>CCA357508162MTTPc.1141T>C (p.Phe381Leu)
c.892T>C (p.Phe298Leu)
c.1222T>C (p.Phe408Leu)
4g.99600638T>GCA357508165MTTPc.1141T>G (p.Phe381Val)
c.892T>G (p.Phe298Val)
c.1222T>G (p.Phe408Val)
4g.99600639T>ACA357508174MTTPc.1142T>A (p.Phe381Tyr)
c.893T>A (p.Phe298Tyr)
c.1223T>A (p.Phe408Tyr)
4g.99600639T>CCA357508171MTTPc.1142T>C (p.Phe381Ser)
c.893T>C (p.Phe298Ser)
c.1223T>C (p.Phe408Ser)
4g.99600639T>GCA357508168MTTPc.1142T>G (p.Phe381Cys)
c.893T>G (p.Phe298Cys)
c.1223T>G (p.Phe408Cys)
4g.99600640C>ACA357508177MTTPc.1143C>A (p.Phe381Leu)
c.894C>A (p.Phe298Leu)
c.1224C>A (p.Phe408Leu)
4g.99600640C>GCA357508189MTTPc.1143C>G (p.Phe381Leu)
c.894C>G (p.Phe298Leu)
c.1224C>G (p.Phe408Leu)
4g.99600640C>TCA440330010MTTPc.1143C>T (p.Phe381=)
c.894C>T (p.Phe298=)
c.1224C>T (p.Phe408=)
4g.99600641A>CCA357508193MTTPc.1144A>C (p.Lys382Gln)
c.895A>C (p.Lys299Gln)
c.1225A>C (p.Lys409Gln)
4g.99600641A>GCA357508196MTTPc.1144A>G (p.Lys382Glu)
c.895A>G (p.Lys299Glu)
c.1225A>G (p.Lys409Glu)
4g.99600641A>TCA357508200MTTPc.1144A>T (p.Lys382Ter)
c.895A>T (p.Lys299Ter)
c.1225A>T (p.Lys409Ter)
4g.99600644delCA2695203657MTTPc.1147del (p.Ser383ValfsTer26)
c.898del (p.Ser300ValfsTer26)
c.1228del (p.Ser410ValfsTer26)
4g.99600642A>CCA357508204MTTPc.1145A>C (p.Lys382Thr)
c.896A>C (p.Lys299Thr)
c.1226A>C (p.Lys409Thr)
4g.99600642A>GCA357508207MTTPc.1145A>G (p.Lys382Arg)
c.896A>G (p.Lys299Arg)
c.1226A>G (p.Lys409Arg)
4g.99600642A>TCA357508209MTTPc.1145A>T (p.Lys382Ile)
c.896A>T (p.Lys299Ile)
c.1226A>T (p.Lys409Ile)
4g.99600643A>CCA357508211MTTPc.1146A>C (p.Lys382Asn)
c.897A>C (p.Lys299Asn)
c.1227A>C (p.Lys409Asn)
4g.99600643A>GCA440330011MTTPc.1146A>G (p.Lys382=)
c.897A>G (p.Lys299=)
c.1227A>G (p.Lys409=)
4g.99600643A>TCA357508215MTTPc.1146A>T (p.Lys382Asn)
c.897A>T (p.Lys299Asn)
c.1227A>T (p.Lys409Asn)
4g.99600644A=CA1480079170MTTPc.1147A= (p.Ser383=)
c.898A= (p.Ser300=)
c.1228A= (p.Ser410=)
4g.99600644A>CCA357508218MTTPc.1147A>C (p.Ser383Arg)
c.898A>C (p.Ser300Arg)
c.1228A>C (p.Ser410Arg)
4g.99600644A>GCA357508221MTTPc.1147A>G (p.Ser383Gly)
c.898A>G (p.Ser300Gly)
c.1228A>G (p.Ser410Gly)
4g.99600644A>TCA3022038MTTPc.1147A>T (p.Ser383Cys)
c.898A>T (p.Ser300Cys)
c.1228A>T (p.Ser410Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99600645G>ACA357508230MTTPc.1148G>A (p.Ser383Asn)
c.899G>A (p.Ser300Asn)
c.1229G>A (p.Ser410Asn)
4g.99600645G>CCA357508233MTTPc.1148G>C (p.Ser383Thr)
c.899G>C (p.Ser300Thr)
c.1229G>C (p.Ser410Thr)
 COSMIC
4g.99600645G>TCA357508228MTTPc.1148G>T (p.Ser383Ile)
c.899G>T (p.Ser300Ile)
c.1229G>T (p.Ser410Ile)
4g.99600646T>ACA357508236MTTPc.1149T>A (p.Ser383Arg)
c.900T>A (p.Ser300Arg)
c.1230T>A (p.Ser410Arg)
4g.99600646T>CCA3022039MTTPc.1149T>C (p.Ser383=)
c.900T>C (p.Ser300=)
c.1230T>C (p.Ser410=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99600646T>GCA357508239MTTPc.1149T>G (p.Ser383Arg)
c.900T>G (p.Ser300Arg)
c.1230T>G (p.Ser410Arg)
4g.99600646T=CA1480079171MTTPc.1149T= (p.Ser383=)
c.900T= (p.Ser300=)
c.1230T= (p.Ser410=)
4g.99600647G>ACA3022040MTTPc.1150G>A (p.Asp384Asn)
c.901G>A (p.Asp301Asn)
c.1231G>A (p.Asp411Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.99600647G>CCA357508243MTTPc.1150G>C (p.Asp384His)
c.901G>C (p.Asp301His)
c.1231G>C (p.Asp411His)
4g.99600647G=CA1480079172MTTPc.1150G= (p.Asp384=)
c.901G= (p.Asp301=)
c.1231G= (p.Asp411=)
4g.99600647G>TCA357508246MTTPc.1150G>T (p.Asp384Tyr)
c.901G>T (p.Asp301Tyr)
c.1231G>T (p.Asp411Tyr)
4g.99600648A=CA1480079173MTTPc.1151A= (p.Asp384=)
c.902A= (p.Asp301=)
c.1232A= (p.Asp411=)
4g.99600648A>CCA3022041MTTPc.1151A>C (p.Asp384Ala)
c.902A>C (p.Asp301Ala)
c.1232A>C (p.Asp411Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99600648A>GCA357508249MTTPc.1151A>G (p.Asp384Gly)
c.902A>G (p.Asp301Gly)
c.1232A>G (p.Asp411Gly)
4g.99600648A>TCA357508251MTTPc.1151A>T (p.Asp384Val)
c.902A>T (p.Asp301Val)
c.1232A>T (p.Asp411Val)
4g.99600649C>ACA357508256MTTPc.1152C>A (p.Asp384Glu)
c.903C>A (p.Asp301Glu)
c.1233C>A (p.Asp411Glu)
4g.99600649C>GCA357508258MTTPc.1152C>G (p.Asp384Glu)
c.903C>G (p.Asp301Glu)
c.1233C>G (p.Asp411Glu)
4g.99600649C>TCA440330012MTTPc.1152C>T (p.Asp384=)
c.903C>T (p.Asp301=)
c.1233C>T (p.Asp411=)
4g.99600650A>CCA357508260MTTPc.1153A>C (p.Ser385Arg)
c.904A>C (p.Ser302Arg)
c.1234A>C (p.Ser412Arg)
 gnomAD v4
4g.99600650A>GCA357508262MTTPc.1153A>G (p.Ser385Gly)
c.904A>G (p.Ser302Gly)
c.1234A>G (p.Ser412Gly)
4g.99600650A>TCA357508265MTTPc.1153A>T (p.Ser385Cys)
c.904A>T (p.Ser302Cys)
c.1234A>T (p.Ser412Cys)
4g.99600651G>ACA357508278MTTPc.1154G>A (p.Ser385Asn)
c.905G>A (p.Ser302Asn)
c.1235G>A (p.Ser412Asn)
 COSMIC
4g.99600651G>CCA357508268MTTPc.1154G>C (p.Ser385Thr)
c.905G>C (p.Ser302Thr)
c.1235G>C (p.Ser412Thr)
4g.99600651G>TCA357508274MTTPc.1154G>T (p.Ser385Ile)
c.905G>T (p.Ser302Ile)
c.1235G>T (p.Ser412Ile)
4g.99600652C>ACA357508286MTTPc.1155C>A (p.Ser385Arg)
c.906C>A (p.Ser302Arg)
c.1236C>A (p.Ser412Arg)
4g.99600652C>GCA357508287MTTPc.1155C>G (p.Ser385Arg)
c.906C>G (p.Ser302Arg)
c.1236C>G (p.Ser412Arg)
4g.99600652C>TCA440330013MTTPc.1155C>T (p.Ser385=)
c.906C>T (p.Ser302=)
c.1236C>T (p.Ser412=)
 ClinVar dbSNP
4g.99600653A>CCA357508293MTTPc.1156A>C (p.Ser386Arg)
c.907A>C (p.Ser303Arg)
c.1237A>C (p.Ser413Arg)
4g.99600653A>GCA357508295MTTPc.1156A>G (p.Ser386Gly)
c.907A>G (p.Ser303Gly)
c.1237A>G (p.Ser413Gly)
4g.99600653A>TCA357508298MTTPc.1156A>T (p.Ser386Cys)
c.907A>T (p.Ser303Cys)
c.1237A>T (p.Ser413Cys)
4g.99600654G>ACA357508301MTTPc.1157G>A (p.Ser386Asn)
c.908G>A (p.Ser303Asn)
c.1238G>A (p.Ser413Asn)
 ClinVar gnomAD v4
4g.99600654G>CCA357508304MTTPc.1157G>C (p.Ser386Thr)
c.908G>C (p.Ser303Thr)
c.1238G>C (p.Ser413Thr)
 gnomAD v4
4g.99600654G>TCA357508306MTTPc.1157G>T (p.Ser386Ile)
c.908G>T (p.Ser303Ile)
c.1238G>T (p.Ser413Ile)
 COSMIC
4g.99600655C>ACA357508308MTTPc.1158C>A (p.Ser386Arg)
c.909C>A (p.Ser303Arg)
c.1239C>A (p.Ser413Arg)
4g.99600655C>GCA357508310MTTPc.1158C>G (p.Ser386Arg)
c.909C>G (p.Ser303Arg)
c.1239C>G (p.Ser413Arg)
4g.99600655C>TCA440330014MTTPc.1158C>T (p.Ser386=)
c.909C>T (p.Ser303=)
c.1239C>T (p.Ser413=)
4g.99600656A=CA1480079174MTTPc.1159A= (p.Ile387=)
c.910A= (p.Ile304=)
c.1240A= (p.Ile414=)
4g.99600656A>CCA357508313MTTPc.1159A>C (p.Ile387Leu)
c.910A>C (p.Ile304Leu)
c.1240A>C (p.Ile414Leu)
4g.99600656A>GCA357508316MTTPc.1159A>G (p.Ile387Val)
c.910A>G (p.Ile304Val)
c.1240A>G (p.Ile414Val)
 ClinVar dbSNP gnomAD v4
4g.99600656A>TCA357508318MTTPc.1159A>T (p.Ile387Phe)
c.910A>T (p.Ile304Phe)
c.1240A>T (p.Ile414Phe)
 gnomAD v4
4g.99600657T>ACA357508321MTTPc.1160T>A (p.Ile387Asn)
c.911T>A (p.Ile304Asn)
c.1241T>A (p.Ile414Asn)
4g.99600657T>CCA357508326MTTPc.1160T>C (p.Ile387Thr)
c.911T>C (p.Ile304Thr)
c.1241T>C (p.Ile414Thr)
 dbSNP
4g.99600657T>GCA357508324MTTPc.1160T>G (p.Ile387Ser)
c.911T>G (p.Ile304Ser)
c.1241T>G (p.Ile414Ser)
4g.99600657T=CA1480079175MTTPc.1160T= (p.Ile387=)
c.911T= (p.Ile304=)
c.1241T= (p.Ile414=)
4g.99600657_99600658insATCTCA2695203658MTTPc.1160_1161insATCT (p.Ile388SerfsTer19)
c.911_912insATCT (p.Ile305SerfsTer19)
c.1241_1242insATCT (p.Ile415SerfsTer19)
4g.99600658T>ACA440330015MTTPc.1161T>A (p.Ile387=)
c.912T>A (p.Ile304=)
c.1242T>A (p.Ile414=)
4g.99600658T>CCA440330016MTTPc.1161T>C (p.Ile387=)
c.912T>C (p.Ile304=)
c.1242T>C (p.Ile414=)
4g.99600658T>GCA357508329MTTPc.1161T>G (p.Ile387Met)
c.912T>G (p.Ile304Met)
c.1242T>G (p.Ile414Met)
4g.99600659A>CCA357508333MTTPc.1162A>C (p.Ile388Leu)
c.913A>C (p.Ile305Leu)
c.1243A>C (p.Ile415Leu)
4g.99600659A>GCA357508337MTTPc.1162A>G (p.Ile388Val)
c.913A>G (p.Ile305Val)
c.1243A>G (p.Ile415Val)
4g.99600659A>TCA357508339MTTPc.1162A>T (p.Ile388Phe)
c.913A>T (p.Ile305Phe)
c.1243A>T (p.Ile415Phe)
4g.99600660T>ACA357508343MTTPc.1163T>A (p.Ile388Asn)
c.914T>A (p.Ile305Asn)
c.1244T>A (p.Ile415Asn)
4g.99600660T>CCA357508345MTTPc.1163T>C (p.Ile388Thr)
c.914T>C (p.Ile305Thr)
c.1244T>C (p.Ile415Thr)
 gnomAD v4
4g.99600660T>GCA357508347MTTPc.1163T>G (p.Ile388Ser)
c.914T>G (p.Ile305Ser)
c.1244T>G (p.Ile415Ser)
4g.99600661C>ACA440330018MTTPc.1164C>A (p.Ile388=)
c.915C>A (p.Ile305=)
c.1245C>A (p.Ile415=)
 ClinVar
4g.99600661C>GCA357508351MTTPc.1164C>G (p.Ile388Met)
c.915C>G (p.Ile305Met)
c.1245C>G (p.Ile415Met)
4g.99600661C>TCA440330017MTTPc.1164C>T (p.Ile388=)
c.915C>T (p.Ile305=)
c.1245C>T (p.Ile415=)
4g.99600662C>ACA357508355MTTPc.1165C>A (p.Leu389Ile)
c.916C>A (p.Leu306Ile)
c.1246C>A (p.Leu416Ile)
4g.99600662C=CA1480079176MTTPc.1165C= (p.Leu389=)
c.916C= (p.Leu306=)
c.1246C= (p.Leu416=)
4g.99600662C>GCA357508357MTTPc.1165C>G (p.Leu389Val)
c.916C>G (p.Leu306Val)
c.1246C>G (p.Leu416Val)
 gnomAD v4
4g.99600662C>TCA102631505MTTPc.1165C>T (p.Leu389Phe)
c.916C>T (p.Leu306Phe)
c.1246C>T (p.Leu416Phe)
 dbSNP
4g.99600663T>ACA357508359MTTPc.1166T>A (p.Leu389His)
c.917T>A (p.Leu306His)
c.1247T>A (p.Leu416His)
4g.99600663T>CCA357508361MTTPc.1166T>C (p.Leu389Pro)
c.917T>C (p.Leu306Pro)
c.1247T>C (p.Leu416Pro)
4g.99600663T>GCA357508364MTTPc.1166T>G (p.Leu389Arg)
c.917T>G (p.Leu306Arg)
c.1247T>G (p.Leu416Arg)
4g.99600664C>ACA440330021MTTPc.1167C>A (p.Leu389=)
c.918C>A (p.Leu306=)
c.1248C>A (p.Leu416=)
4g.99600664C=CA1480079177MTTPc.1167C= (p.Leu389=)
c.918C= (p.Leu306=)
c.1248C= (p.Leu416=)
4g.99600664C>GCA440330020MTTPc.1167C>G (p.Leu389=)
c.918C>G (p.Leu306=)
c.1248C>G (p.Leu416=)
 ClinVar dbSNP
4g.99600664C>TCA440330019MTTPc.1167C>T (p.Leu389=)
c.918C>T (p.Leu306=)
c.1248C>T (p.Leu416=)
 ClinVar dbSNP
4g.99600665delCA2580071915MTTPc.1168del (p.Gln390ArgfsTer19)
c.919del (p.Gln307ArgfsTer19)
c.1249del (p.Gln417ArgfsTer19)
 ClinVar
4g.99600665C>ACA357508367MTTPc.1168C>A (p.Gln390Lys)
c.919C>A (p.Gln307Lys)
c.1249C>A (p.Gln417Lys)
4g.99600665C>GCA357508372MTTPc.1168C>G (p.Gln390Glu)
c.919C>G (p.Gln307Glu)
c.1249C>G (p.Gln417Glu)
4g.99600665C>TCA357508369MTTPc.1168C>T (p.Gln390Ter)
c.919C>T (p.Gln307Ter)
c.1249C>T (p.Gln417Ter)
4g.99600666A>CCA357508375MTTPc.1169A>C (p.Gln390Pro)
c.920A>C (p.Gln307Pro)
c.1250A>C (p.Gln417Pro)
4g.99600666A>GCA357508377MTTPc.1169A>G (p.Gln390Arg)
c.920A>G (p.Gln307Arg)
c.1250A>G (p.Gln417Arg)
4g.99600666A>TCA357508379MTTPc.1169A>T (p.Gln390Leu)
c.920A>T (p.Gln307Leu)
c.1250A>T (p.Gln417Leu)

Number of alleles fetched