Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.116012832C>A | CA481951130 | MED13L | c.1245G>T (p.Val415=) c.1215G>T (p.Val405=) c.673G>T c.1152G>T (p.Val384=) n.1009G>T | |
12 | g.116012832C= | CA2065381517 | MED13L | c.1245G= (p.Val415=) c.1215G= (p.Val405=) c.673G= c.1152G= (p.Val384=) n.1009G= | |
12 | g.116012832C>G | CA481951132 | MED13L | c.1245G>C (p.Val415=) c.1215G>C (p.Val405=) c.673G>C c.1152G>C (p.Val384=) n.1009G>C | |
12 | g.116012832C>T | CA481951131 | MED13L | c.1245G>A (p.Val415=) c.1215G>A (p.Val405=) c.673G>A c.1152G>A (p.Val384=) n.1009G>A | dbSNP |
12 | g.116012833A>C | CA386898245 | MED13L | c.1244T>G (p.Val415Gly) c.1214T>G (p.Val405Gly) c.672T>G c.1151T>G (p.Val384Gly) n.1008T>G | |
12 | g.116012833A>G | CA386898246 | MED13L | c.1244T>C (p.Val415Ala) c.1214T>C (p.Val405Ala) c.672T>C c.1151T>C (p.Val384Ala) n.1008T>C | |
12 | g.116012833A>T | CA386898247 | MED13L | c.1244T>A (p.Val415Glu) c.1214T>A (p.Val405Glu) c.672T>A c.1151T>A (p.Val384Glu) n.1008T>A | |
12 | g.116012834C>A | CA386898248 | MED13L | c.1243G>T (p.Val415Leu) c.1213G>T (p.Val405Leu) c.671G>T c.1150G>T (p.Val384Leu) n.1007G>T | |
12 | g.116012834C>G | CA386898250 | MED13L | c.1243G>C (p.Val415Leu) c.1213G>C (p.Val405Leu) c.671G>C c.1150G>C (p.Val384Leu) n.1007G>C | dbSNP |
12 | g.116012834C>T | CA386898249 | MED13L | c.1243G>A (p.Val415Met) c.1213G>A (p.Val405Met) c.671G>A c.1150G>A (p.Val384Met) n.1007G>A | |
12 | g.116012835A>C | CA386898251 | MED13L | c.1242T>G (p.Phe414Leu) c.1212T>G (p.Phe404Leu) c.670T>G c.1149T>G (p.Phe383Leu) n.1006T>G | |
12 | g.116012835A>G | CA481951133 | MED13L | c.1242T>C (p.Phe414=) c.1212T>C (p.Phe404=) c.670T>C c.1149T>C (p.Phe383=) n.1006T>C | |
12 | g.116012835A>T | CA386898252 | MED13L | c.1242T>A (p.Phe414Leu) c.1212T>A (p.Phe404Leu) c.670T>A c.1149T>A (p.Phe383Leu) n.1006T>A | |
12 | g.116012836A>C | CA386898253 | MED13L | c.1241T>G (p.Phe414Cys) c.1211T>G (p.Phe404Cys) c.669T>G c.1148T>G (p.Phe383Cys) n.1005T>G | |
12 | g.116012836A>G | CA386898254 | MED13L | c.1241T>C (p.Phe414Ser) c.1211T>C (p.Phe404Ser) c.669T>C c.1148T>C (p.Phe383Ser) n.1005T>C | |
12 | g.116012836A>T | CA386898255 | MED13L | c.1241T>A (p.Phe414Tyr) c.1211T>A (p.Phe404Tyr) c.669T>A c.1148T>A (p.Phe383Tyr) n.1005T>A | |
12 | g.116012837A>C | CA386898257 | MED13L | c.1240T>G (p.Phe414Val) c.1210T>G (p.Phe404Val) c.668T>G c.1147T>G (p.Phe383Val) n.1004T>G | |
12 | g.116012837A>G | CA386898258 | MED13L | c.1240T>C (p.Phe414Leu) c.1210T>C (p.Phe404Leu) c.668T>C c.1147T>C (p.Phe383Leu) n.1004T>C | |
12 | g.116012837A>T | CA386898256 | MED13L | c.1240T>A (p.Phe414Ile) c.1210T>A (p.Phe404Ile) c.668T>A c.1147T>A (p.Phe383Ile) n.1004T>A | |
12 | g.116012838A>C | CA386898260 | MED13L | c.1239T>G (p.Asp413Glu) c.1209T>G (p.Asp403Glu) c.667T>G c.1146T>G (p.Asp382Glu) n.1003T>G | |
12 | g.116012838A>G | CA481951134 | MED13L | c.1239T>C (p.Asp413=) c.1209T>C (p.Asp403=) c.667T>C c.1146T>C (p.Asp382=) n.1003T>C | |
12 | g.116012838A>T | CA386898259 | MED13L | c.1239T>A (p.Asp413Glu) c.1209T>A (p.Asp403Glu) c.667T>A c.1146T>A (p.Asp382Glu) n.1003T>A | |
12 | g.116012839del | CA658785067 | MED13L | c.1238del (p.Asp413ValfsTer19) c.1208del (p.Asp403ValfsTer19) c.666del c.1145del (p.Asp382ValfsTer19) n.1002del | |
12 | g.116012839T>A | CA386898261 | MED13L | c.1238A>T (p.Asp413Val) c.1208A>T (p.Asp403Val) c.666A>T c.1145A>T (p.Asp382Val) n.1002A>T | |
12 | g.116012839T>C | CA386898262 | MED13L | c.1238A>G (p.Asp413Gly) c.1208A>G (p.Asp403Gly) c.666A>G c.1145A>G (p.Asp382Gly) n.1002A>G | |
12 | g.116012839T>G | CA386898263 | MED13L | c.1238A>C (p.Asp413Ala) c.1208A>C (p.Asp403Ala) c.666A>C c.1145A>C (p.Asp382Ala) n.1002A>C | |
12 | g.116012840C>A | CA6811462 | MED13L | c.1237G>T (p.Asp413Tyr) c.1207G>T (p.Asp403Tyr) c.665G>T c.1144G>T (p.Asp382Tyr) n.1001G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.116012840C= | CA2065381520 | MED13L | c.1237G= (p.Asp413=) c.1207G= (p.Asp403=) c.665G= c.1144G= (p.Asp382=) n.1001G= | |
12 | g.116012840C>G | CA386898264 | MED13L | c.1237G>C (p.Asp413His) c.1207G>C (p.Asp403His) c.665G>C c.1144G>C (p.Asp382His) n.1001G>C | |
12 | g.116012840C>T | CA386898265 | MED13L | c.1237G>A (p.Asp413Asn) c.1207G>A (p.Asp403Asn) c.665G>A c.1144G>A (p.Asp382Asn) n.1001G>A | gnomAD v4 |
12 | g.116012841C>A | CA386898266 | MED13L | c.1236G>T (p.Trp412Cys) c.1206G>T (p.Trp402Cys) c.664G>T c.1143G>T (p.Trp381Cys) n.1000G>T | |
12 | g.116012841C>G | CA386898267 | MED13L | c.1236G>C (p.Trp412Cys) c.1206G>C (p.Trp402Cys) c.664G>C c.1143G>C (p.Trp381Cys) n.1000G>C | |
12 | g.116012841C>T | CA386898268 | MED13L | c.1236G>A (p.Trp412Ter) c.1206G>A (p.Trp402Ter) c.664G>A c.1143G>A (p.Trp381Ter) n.1000G>A | |
12 | g.116012842C>A | CA386898269 | MED13L | c.1235G>T (p.Trp412Leu) c.1205G>T (p.Trp402Leu) c.663G>T c.1142G>T (p.Trp381Leu) n.999G>T | |
12 | g.116012842C>G | CA386898270 | MED13L | c.1235G>C (p.Trp412Ser) c.1205G>C (p.Trp402Ser) c.663G>C c.1142G>C (p.Trp381Ser) n.999G>C | |
12 | g.116012842C>T | CA386898271 | MED13L | c.1235G>A (p.Trp412Ter) c.1205G>A (p.Trp402Ter) c.663G>A c.1142G>A (p.Trp381Ter) n.999G>A | |
12 | g.116012843A= | CA2065381524 | MED13L | c.1234T= (p.Trp412=) c.1204T= (p.Trp402=) c.662T= c.1141T= (p.Trp381=) n.998T= | |
12 | g.116012843A>C | CA386898274 | MED13L | c.1234T>G (p.Trp412Gly) c.1204T>G (p.Trp402Gly) c.662T>G c.1141T>G (p.Trp381Gly) n.998T>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.116012843A>G | CA386898272 | MED13L | c.1234T>C (p.Trp412Arg) c.1204T>C (p.Trp402Arg) c.662T>C c.1141T>C (p.Trp381Arg) n.998T>C | |
12 | g.116012843A>T | CA386898273 | MED13L | c.1234T>A (p.Trp412Arg) c.1204T>A (p.Trp402Arg) c.662T>A c.1141T>A (p.Trp381Arg) n.998T>A | |
12 | g.116012844A= | CA2065381527 | MED13L | c.1233T= (p.Thr411=) c.1203T= (p.Thr401=) c.661T= c.1140T= (p.Thr380=) n.997T= | |
12 | g.116012844A>C | CA481951135 | MED13L | c.1233T>G (p.Thr411=) c.1203T>G (p.Thr401=) c.661T>G c.1140T>G (p.Thr380=) n.997T>G | |
12 | g.116012844A>G | CA481951136 | MED13L | c.1233T>C (p.Thr411=) c.1203T>C (p.Thr401=) c.661T>C c.1140T>C (p.Thr380=) n.997T>C | dbSNP |
12 | g.116012844A>T | CA481951137 | MED13L | c.1233T>A (p.Thr411=) c.1203T>A (p.Thr401=) c.661T>A c.1140T>A (p.Thr380=) n.997T>A | |
12 | g.116012845G>A | CA386898275 | MED13L | c.1232C>T (p.Thr411Ile) c.1202C>T (p.Thr401Ile) c.660C>T c.1139C>T (p.Thr380Ile) n.996C>T | |
12 | g.116012845G>C | CA386898276 | MED13L | c.1232C>G (p.Thr411Ser) c.1202C>G (p.Thr401Ser) c.660C>G c.1139C>G (p.Thr380Ser) n.996C>G | |
12 | g.116012845G>T | CA386898277 | MED13L | c.1232C>A (p.Thr411Asn) c.1202C>A (p.Thr401Asn) c.660C>A c.1139C>A (p.Thr380Asn) n.996C>A | |
12 | g.116012846T>A | CA386898278 | MED13L | c.1231A>T (p.Thr411Ser) c.1201A>T (p.Thr401Ser) c.659A>T c.1138A>T (p.Thr380Ser) n.995A>T | |
12 | g.116012846T>C | CA6811463 | MED13L | c.1231A>G (p.Thr411Ala) c.1201A>G (p.Thr401Ala) c.659A>G c.1138A>G (p.Thr380Ala) n.995A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.116012846T>G | CA386898279 | MED13L | c.1231A>C (p.Thr411Pro) c.1201A>C (p.Thr401Pro) c.659A>C c.1138A>C (p.Thr380Pro) n.995A>C | |
12 | g.116012846T= | CA2065381530 | MED13L | c.1231A= (p.Thr411=) c.1201A= (p.Thr401=) c.659A= c.1138A= (p.Thr380=) n.995A= | |
12 | g.116012847A>C | CA481951138 | MED13L | c.1230T>G (p.Ala410=) c.1200T>G (p.Ala400=) c.658T>G c.1137T>G (p.Ala379=) n.994T>G | |
12 | g.116012847A>G | CA481951140 | MED13L | c.1230T>C (p.Ala410=) c.1200T>C (p.Ala400=) c.658T>C c.1137T>C (p.Ala379=) n.994T>C | |
12 | g.116012847A>T | CA481951139 | MED13L | c.1230T>A (p.Ala410=) c.1200T>A (p.Ala400=) c.658T>A c.1137T>A (p.Ala379=) n.994T>A | |
12 | g.116012848G>A | CA386898280 | MED13L | c.1229C>T (p.Ala410Val) c.1199C>T (p.Ala400Val) c.657C>T c.1136C>T (p.Ala379Val) n.993C>T | |
12 | g.116012848G>C | CA386898281 | MED13L | c.1229C>G (p.Ala410Gly) c.1199C>G (p.Ala400Gly) c.657C>G c.1136C>G (p.Ala379Gly) n.993C>G | |
12 | g.116012848G>T | CA386898282 | MED13L | c.1229C>A (p.Ala410Asp) c.1199C>A (p.Ala400Asp) c.657C>A c.1136C>A (p.Ala379Asp) n.993C>A | |
12 | g.116012849C>A | CA386898283 | MED13L | c.1228G>T (p.Ala410Ser) c.1198G>T (p.Ala400Ser) c.656G>T c.1135G>T (p.Ala379Ser) n.992G>T | |
12 | g.116012849C>G | CA386898284 | MED13L | c.1228G>C (p.Ala410Pro) c.1198G>C (p.Ala400Pro) c.656G>C c.1135G>C (p.Ala379Pro) n.992G>C | |
12 | g.116012849C>T | CA386898285 | MED13L | c.1228G>A (p.Ala410Thr) c.1198G>A (p.Ala400Thr) c.656G>A c.1135G>A (p.Ala379Thr) n.992G>A | |
12 | g.116012850A>C | CA481951141 | MED13L | c.1227T>G (p.Pro409=) c.1197T>G (p.Pro399=) c.655T>G c.1134T>G (p.Pro378=) n.991T>G | |
12 | g.116012850A>G | CA481951142 | MED13L | c.1227T>C (p.Pro409=) c.1197T>C (p.Pro399=) c.655T>C c.1134T>C (p.Pro378=) n.991T>C | |
12 | g.116012850A>T | CA481951143 | MED13L | c.1227T>A (p.Pro409=) c.1197T>A (p.Pro399=) c.655T>A c.1134T>A (p.Pro378=) n.991T>A | |
12 | g.116012851G>A | CA386898288 | MED13L | c.1226C>T (p.Pro409Leu) c.1196C>T (p.Pro399Leu) c.654C>T c.1133C>T (p.Pro378Leu) n.990C>T | ClinVar |
12 | g.116012851G>C | CA386898287 | MED13L | c.1226C>G (p.Pro409Arg) c.1196C>G (p.Pro399Arg) c.654C>G c.1133C>G (p.Pro378Arg) n.990C>G | |
12 | g.116012851G>T | CA386898286 | MED13L | c.1226C>A (p.Pro409His) c.1196C>A (p.Pro399His) c.654C>A c.1133C>A (p.Pro378His) n.990C>A | |
12 | g.116012852G>A | CA386898289 | MED13L | c.1225C>T (p.Pro409Ser) c.1195C>T (p.Pro399Ser) c.653C>T c.1132C>T (p.Pro378Ser) n.989C>T | gnomAD v4 |
12 | g.116012852G>C | CA386898290 | MED13L | c.1225C>G (p.Pro409Ala) c.1195C>G (p.Pro399Ala) c.653C>G c.1132C>G (p.Pro378Ala) n.989C>G | gnomAD v4 |
12 | g.116012852G>T | CA386898291 | MED13L | c.1225C>A (p.Pro409Thr) c.1195C>A (p.Pro399Thr) c.653C>A c.1132C>A (p.Pro378Thr) n.989C>A | |
12 | g.116012853A>C | CA386898292 | MED13L | c.1224T>G (p.Asn408Lys) c.1194T>G (p.Asn398Lys) c.652T>G c.1131T>G (p.Asn377Lys) n.988T>G | |
12 | g.116012853A>G | CA481951144 | MED13L | c.1224T>C (p.Asn408=) c.1194T>C (p.Asn398=) c.652T>C c.1131T>C (p.Asn377=) n.988T>C | |
12 | g.116012853A>T | CA386898293 | MED13L | c.1224T>A (p.Asn408Lys) c.1194T>A (p.Asn398Lys) c.652T>A c.1131T>A (p.Asn377Lys) n.988T>A | |
12 | g.116012854T>A | CA386898294 | MED13L | c.1223A>T (p.Asn408Ile) c.1193A>T (p.Asn398Ile) c.651A>T c.1130A>T (p.Asn377Ile) n.987A>T | |
12 | g.116012854T>C | CA6811464 | MED13L | c.1223A>G (p.Asn408Ser) c.1193A>G (p.Asn398Ser) c.651A>G c.1130A>G (p.Asn377Ser) n.987A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.116012854T>G | CA386898295 | MED13L | c.1223A>C (p.Asn408Thr) c.1193A>C (p.Asn398Thr) c.651A>C c.1130A>C (p.Asn377Thr) n.987A>C | |
12 | g.116012854T= | CA2065381533 | MED13L | c.1223A= (p.Asn408=) c.1193A= (p.Asn398=) c.651A= c.1130A= (p.Asn377=) n.987A= | |
12 | g.116012855T>A | CA386898296 | MED13L | c.1222A>T (p.Asn408Tyr) c.1192A>T (p.Asn398Tyr) c.650A>T c.1129A>T (p.Asn377Tyr) n.986A>T | gnomAD v4 |
12 | g.116012855T>C | CA6811465 | MED13L | c.1222A>G (p.Asn408Asp) c.1192A>G (p.Asn398Asp) c.650A>G c.1129A>G (p.Asn377Asp) n.986A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.116012855T>G | CA386898297 | MED13L | c.1222A>C (p.Asn408His) c.1192A>C (p.Asn398His) c.650A>C c.1129A>C (p.Asn377His) n.986A>C | |
12 | g.116012855T= | CA2065381537 | MED13L | c.1222A= (p.Asn408=) c.1192A= (p.Asn398=) c.650A= c.1129A= (p.Asn377=) n.986A= | |
12 | g.116012856G>A | CA481951145 | MED13L | c.1221C>T (p.Ser407=) c.1191C>T (p.Ser397=) c.649C>T c.1128C>T (p.Ser376=) n.985C>T | |
12 | g.116012856G>C | CA244167819 | MED13L | c.1221C>G (p.Ser407Arg) c.1191C>G (p.Ser397Arg) c.649C>G c.1128C>G (p.Ser376Arg) n.985C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.116012856G= | CA2065381542 | MED13L | c.1221C= (p.Ser407=) c.1191C= (p.Ser397=) c.649C= c.1128C= (p.Ser376=) n.985C= | |
12 | g.116012856G>T | CA386898298 | MED13L | c.1221C>A (p.Ser407Arg) c.1191C>A (p.Ser397Arg) c.649C>A c.1128C>A (p.Ser376Arg) n.985C>A | |
12 | g.116012857C>A | CA386898301 | MED13L | c.1220G>T (p.Ser407Ile) c.1190G>T (p.Ser397Ile) c.648G>T c.1127G>T (p.Ser376Ile) n.984G>T | |
12 | g.116012857C>G | CA386898299 | MED13L | c.1220G>C (p.Ser407Thr) c.1190G>C (p.Ser397Thr) c.648G>C c.1127G>C (p.Ser376Thr) n.984G>C | |
12 | g.116012857C>T | CA386898300 | MED13L | c.1220G>A (p.Ser407Asn) c.1190G>A (p.Ser397Asn) c.648G>A c.1127G>A (p.Ser376Asn) n.984G>A | |
12 | g.116012858T>A | CA386898302 | MED13L | c.1219A>T (p.Ser407Cys) c.1189A>T (p.Ser397Cys) c.647A>T c.1126A>T (p.Ser376Cys) n.983A>T | |
12 | g.116012858T>C | CA6811466 | MED13L | c.1219A>G (p.Ser407Gly) c.1189A>G (p.Ser397Gly) c.647A>G c.1126A>G (p.Ser376Gly) n.983A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.116012858T>G | CA386898303 | MED13L | c.1219A>C (p.Ser407Arg) c.1189A>C (p.Ser397Arg) c.647A>C c.1126A>C (p.Ser376Arg) n.983A>C | |
12 | g.116012858T= | CA2065381550 | MED13L | c.1219A= (p.Ser407=) c.1189A= (p.Ser397=) c.647A= c.1126A= (p.Ser376=) n.983A= | |
12 | g.116012859A>C | CA481951146 | MED13L | c.1218T>G (p.Ala406=) c.1188T>G (p.Ala396=) c.646T>G c.1125T>G (p.Ala375=) n.982T>G | |
12 | g.116012859A>G | CA481951147 | MED13L | c.1218T>C (p.Ala406=) c.1188T>C (p.Ala396=) c.646T>C c.1125T>C (p.Ala375=) n.982T>C | |
12 | g.116012859A>T | CA481951148 | MED13L | c.1218T>A (p.Ala406=) c.1188T>A (p.Ala396=) c.646T>A c.1125T>A (p.Ala375=) n.982T>A | |
12 | g.116012859dup | CA2573053609 | MED13L | c.1218dup (p.Ser407Ter) c.1188dup (p.Ser397Ter) c.646dup c.1125dup (p.Ser376Ter) n.982dup | ClinVar dbSNP |
12 | g.116012860G>A | CA386898304 | MED13L | c.1217C>T (p.Ala406Val) c.1187C>T (p.Ala396Val) c.645C>T c.1124C>T (p.Ala375Val) n.981C>T | |
12 | g.116012860G>C | CA386898305 | MED13L | c.1217C>G (p.Ala406Gly) c.1187C>G (p.Ala396Gly) c.645C>G c.1124C>G (p.Ala375Gly) n.981C>G | |
12 | g.116012860G>T | CA386898306 | MED13L | c.1217C>A (p.Ala406Asp) c.1187C>A (p.Ala396Asp) c.645C>A c.1124C>A (p.Ala375Asp) n.981C>A | |
12 | g.116012861C>A | CA386898307 | MED13L | c.1216G>T (p.Ala406Ser) c.1186G>T (p.Ala396Ser) c.644G>T c.1123G>T (p.Ala375Ser) n.980G>T | |
12 | g.116012861C>G | CA386898308 | MED13L | c.1216G>C (p.Ala406Pro) c.1186G>C (p.Ala396Pro) c.644G>C c.1123G>C (p.Ala375Pro) n.980G>C | |
12 | g.116012861C>T | CA386898309 | MED13L | c.1216G>A (p.Ala406Thr) c.1186G>A (p.Ala396Thr) c.644G>A c.1123G>A (p.Ala375Thr) n.980G>A | COSMIC |
12 | g.116012862A= | CA2065381553 | MED13L | c.1215T= (p.Pro405=) c.1185T= (p.Pro395=) c.643T= c.1122T= (p.Pro374=) n.979T= | |
12 | g.116012862A>C | CA6811467 | MED13L | c.1215T>G (p.Pro405=) c.1185T>G (p.Pro395=) c.643T>G c.1122T>G (p.Pro374=) n.979T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.116012862A>G | CA481951149 | MED13L | c.1215T>C (p.Pro405=) c.1185T>C (p.Pro395=) c.643T>C c.1122T>C (p.Pro374=) n.979T>C | |
12 | g.116012862A>T | CA481951150 | MED13L | c.1215T>A (p.Pro405=) c.1185T>A (p.Pro395=) c.643T>A c.1122T>A (p.Pro374=) n.979T>A | |
12 | g.116012863G>A | CA386898310 | MED13L | c.1214C>T (p.Pro405Leu) c.1184C>T (p.Pro395Leu) c.642C>T c.1121C>T (p.Pro374Leu) n.978C>T | dbSNP |
12 | g.116012863G>C | CA386898311 | MED13L | c.1214C>G (p.Pro405Arg) c.1184C>G (p.Pro395Arg) c.642C>G c.1121C>G (p.Pro374Arg) n.978C>G | gnomAD v4 |
12 | g.116012863G= | CA2065381557 | MED13L | c.1214C= (p.Pro405=) c.1184C= (p.Pro395=) c.642C= c.1121C= (p.Pro374=) n.978C= | |
12 | g.116012863G>T | CA386898312 | MED13L | c.1214C>A (p.Pro405His) c.1184C>A (p.Pro395His) c.642C>A c.1121C>A (p.Pro374His) n.978C>A | |
12 | g.116012864G>A | CA386898314 | MED13L | c.1213C>T (p.Pro405Ser) c.1183C>T (p.Pro395Ser) c.641C>T c.1120C>T (p.Pro374Ser) n.977C>T | COSMIC |
12 | g.116012864G>C | CA386898315 | MED13L | c.1213C>G (p.Pro405Ala) c.1183C>G (p.Pro395Ala) c.641C>G c.1120C>G (p.Pro374Ala) n.977C>G | gnomAD v4 |
12 | g.116012864G>T | CA386898313 | MED13L | c.1213C>A (p.Pro405Thr) c.1183C>A (p.Pro395Thr) c.641C>A c.1120C>A (p.Pro374Thr) n.977C>A | |
12 | g.116012865C>A | CA386898316 | MED13L | c.1212G>T (p.Glu404Asp) c.1182G>T (p.Glu394Asp) c.640G>T c.1119G>T (p.Glu373Asp) n.976G>T | |
12 | g.116012865C>G | CA386898317 | MED13L | c.1212G>C (p.Glu404Asp) c.1182G>C (p.Glu394Asp) c.640G>C c.1119G>C (p.Glu373Asp) n.976G>C | |
12 | g.116012865C>T | CA481951151 | MED13L | c.1212G>A (p.Glu404=) c.1182G>A (p.Glu394=) c.640G>A c.1119G>A (p.Glu373=) n.976G>A | |
12 | g.116012866T>A | CA386898318 | MED13L | c.1211A>T (p.Glu404Val) c.1181A>T (p.Glu394Val) c.639A>T c.1118A>T (p.Glu373Val) n.975A>T | |
12 | g.116012866T>C | CA386898320 | MED13L | c.1211A>G (p.Glu404Gly) c.1181A>G (p.Glu394Gly) c.639A>G c.1118A>G (p.Glu373Gly) n.975A>G | |
12 | g.116012866T>G | CA386898319 | MED13L | c.1211A>C (p.Glu404Ala) c.1181A>C (p.Glu394Ala) c.639A>C c.1118A>C (p.Glu373Ala) n.975A>C | |
12 | g.116012867C>A | CA386898321 | MED13L | c.1210G>T (p.Glu404Ter) c.1180G>T (p.Glu394Ter) c.638G>T c.1117G>T (p.Glu373Ter) n.974G>T | |
12 | g.116012867C>G | CA386898323 | MED13L | c.1210G>C (p.Glu404Gln) c.1180G>C (p.Glu394Gln) c.638G>C c.1117G>C (p.Glu373Gln) n.974G>C | |
12 | g.116012867C>T | CA386898322 | MED13L | c.1210G>A (p.Glu404Lys) c.1180G>A (p.Glu394Lys) c.638G>A c.1117G>A (p.Glu373Lys) n.974G>A | |
12 | g.116012868T>A | CA386898324 | MED13L | c.1209A>T (p.Glu403Asp) c.1179A>T (p.Glu393Asp) c.637A>T c.1116A>T (p.Glu372Asp) n.973A>T | |
12 | g.116012868T>C | CA481951152 | MED13L | c.1209A>G (p.Glu403=) c.1179A>G (p.Glu393=) c.637A>G c.1116A>G (p.Glu372=) n.973A>G | |
12 | g.116012868T>G | CA386898325 | MED13L | c.1209A>C (p.Glu403Asp) c.1179A>C (p.Glu393Asp) c.637A>C c.1116A>C (p.Glu372Asp) n.973A>C | |
12 | g.116012869T>A | CA386898326 | MED13L | c.1208A>T (p.Glu403Val) c.1178A>T (p.Glu393Val) c.636A>T c.1115A>T (p.Glu372Val) n.972A>T | |
12 | g.116012869T>C | CA386898327 | MED13L | c.1208A>G (p.Glu403Gly) c.1178A>G (p.Glu393Gly) c.636A>G c.1115A>G (p.Glu372Gly) n.972A>G | |
12 | g.116012869T>G | CA386898328 | MED13L | c.1208A>C (p.Glu403Ala) c.1178A>C (p.Glu393Ala) c.636A>C c.1115A>C (p.Glu372Ala) n.972A>C | |
12 | g.116012870C>A | CA386898329 | MED13L | c.1207G>T (p.Glu403Ter) c.1177G>T (p.Glu393Ter) c.635G>T c.1114G>T (p.Glu372Ter) n.971G>T | |
12 | g.116012870C= | CA2065381561 | MED13L | c.1207G= (p.Glu403=) c.1177G= (p.Glu393=) c.635G= c.1114G= (p.Glu372=) n.971G= | |
12 | g.116012870C>G | CA386898330 | MED13L | c.1207G>C (p.Glu403Gln) c.1177G>C (p.Glu393Gln) c.635G>C c.1114G>C (p.Glu372Gln) n.971G>C | |
12 | g.116012870C>T | CA6811468 | MED13L | c.1207G>A (p.Glu403Lys) c.1177G>A (p.Glu393Lys) c.635G>A c.1114G>A (p.Glu372Lys) n.971G>A | dbSNP ExAC gnomAD v3 gnomAD v4 |
12 | g.116012871T>A | CA386898331 | MED13L | c.1206A>T (p.Glu402Asp) c.1176A>T (p.Glu392Asp) c.634A>T c.1113A>T (p.Glu371Asp) n.970A>T | gnomAD v4 |
12 | g.116012871T>C | CA481951153 | MED13L | c.1206A>G (p.Glu402=) c.1176A>G (p.Glu392=) c.634A>G c.1113A>G (p.Glu371=) n.970A>G | gnomAD v4 |
12 | g.116012871T>G | CA386898332 | MED13L | c.1206A>C (p.Glu402Asp) c.1176A>C (p.Glu392Asp) c.634A>C c.1113A>C (p.Glu371Asp) n.970A>C | |
12 | g.116012872T>A | CA386898333 | MED13L | c.1205A>T (p.Glu402Val) c.1175A>T (p.Glu392Val) c.633A>T c.1112A>T (p.Glu371Val) n.969A>T | |
12 | g.116012872T>C | CA386898334 | MED13L | c.1205A>G (p.Glu402Gly) c.1175A>G (p.Glu392Gly) c.633A>G c.1112A>G (p.Glu371Gly) n.969A>G | |
12 | g.116012872T>G | CA386898335 | MED13L | c.1205A>C (p.Glu402Ala) c.1175A>C (p.Glu392Ala) c.633A>C c.1112A>C (p.Glu371Ala) n.969A>C | |
12 | g.116012873C>A | CA386898336 | MED13L | c.1204G>T (p.Glu402Ter) c.1174G>T (p.Glu392Ter) c.632G>T c.1111G>T (p.Glu371Ter) n.968G>T | |
12 | g.116012873C>G | CA386898338 | MED13L | c.1204G>C (p.Glu402Gln) c.1174G>C (p.Glu392Gln) c.632G>C c.1111G>C (p.Glu371Gln) n.968G>C | |
12 | g.116012873C>T | CA386898337 | MED13L | c.1204G>A (p.Glu402Lys) c.1174G>A (p.Glu392Lys) c.632G>A c.1111G>A (p.Glu371Lys) n.968G>A | |
12 | g.116012874A>C | CA481951154 | MED13L | c.1203T>G (p.Leu401=) c.1173T>G (p.Leu391=) c.631T>G c.1110T>G (p.Leu370=) n.967T>G | |
12 | g.116012874A>G | CA481951155 | MED13L | c.1203T>C (p.Leu401=) c.1173T>C (p.Leu391=) c.631T>C c.1110T>C (p.Leu370=) n.967T>C | |
12 | g.116012874A>T | CA481951156 | MED13L | c.1203T>A (p.Leu401=) c.1173T>A (p.Leu391=) c.631T>A c.1110T>A (p.Leu370=) n.967T>A | |
12 | g.116012875A= | CA2065381563 | MED13L | c.1202T= (p.Leu401=) c.1172T= (p.Leu391=) c.630T= c.1109T= (p.Leu370=) n.966T= | |
12 | g.116012875A>C | CA386898339 | MED13L | c.1202T>G (p.Leu401Arg) c.1172T>G (p.Leu391Arg) c.630T>G c.1109T>G (p.Leu370Arg) n.966T>G | |
12 | g.116012875A>G | CA386898340 | MED13L | c.1202T>C (p.Leu401Pro) c.1172T>C (p.Leu391Pro) c.630T>C c.1109T>C (p.Leu370Pro) n.966T>C | dbSNP |
12 | g.116012875A>T | CA386898341 | MED13L | c.1202T>A (p.Leu401His) c.1172T>A (p.Leu391His) c.630T>A c.1109T>A (p.Leu370His) n.966T>A | |
12 | g.116012876G>A | CA386898342 | MED13L | c.1201C>T (p.Leu401Phe) c.1171C>T (p.Leu391Phe) c.629C>T c.1108C>T (p.Leu370Phe) n.965C>T | |
12 | g.116012876G>C | CA386898343 | MED13L | c.1201C>G (p.Leu401Val) c.1171C>G (p.Leu391Val) c.629C>G c.1108C>G (p.Leu370Val) n.965C>G | |
12 | g.116012876G>T | CA386898344 | MED13L | c.1201C>A (p.Leu401Ile) c.1171C>A (p.Leu391Ile) c.629C>A c.1108C>A (p.Leu370Ile) n.965C>A | |
12 | g.116012877A>C | CA481951157 | MED13L | c.1200T>G (p.Thr400=) c.1170T>G (p.Thr390=) c.628T>G c.1107T>G (p.Thr369=) n.964T>G | |
12 | g.116012877A>G | CA481951158 | MED13L | c.1200T>C (p.Thr400=) c.1170T>C (p.Thr390=) c.628T>C c.1107T>C (p.Thr369=) n.964T>C | |
12 | g.116012877A>T | CA481951159 | MED13L | c.1200T>A (p.Thr400=) c.1170T>A (p.Thr390=) c.628T>A c.1107T>A (p.Thr369=) n.964T>A | |
12 | g.116012878G>A | CA386898345 | MED13L | c.1199C>T (p.Thr400Ile) c.1169C>T (p.Thr390Ile) c.627C>T c.1106C>T (p.Thr369Ile) n.963C>T | |
12 | g.116012878G>C | CA386898346 | MED13L | c.1199C>G (p.Thr400Ser) c.1169C>G (p.Thr390Ser) c.627C>G c.1106C>G (p.Thr369Ser) n.963C>G | |
12 | g.116012878G>T | CA386898347 | MED13L | c.1199C>A (p.Thr400Asn) c.1169C>A (p.Thr390Asn) c.627C>A c.1106C>A (p.Thr369Asn) n.963C>A | |
12 | g.116012879T>A | CA386898349 | MED13L | c.1198A>T (p.Thr400Ser) c.1168A>T (p.Thr390Ser) c.626A>T c.1105A>T (p.Thr369Ser) n.962A>T | gnomAD v4 |
12 | g.116012879T>C | CA6811469 | MED13L | c.1198A>G (p.Thr400Ala) c.1168A>G (p.Thr390Ala) c.626A>G c.1105A>G (p.Thr369Ala) n.962A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.116012879T>G | CA386898348 | MED13L | c.1198A>C (p.Thr400Pro) c.1168A>C (p.Thr390Pro) c.626A>C c.1105A>C (p.Thr369Pro) n.962A>C | |
12 | g.116012879T= | CA2065381567 | MED13L | c.1198A= (p.Thr400=) c.1168A= (p.Thr390=) c.626A= c.1105A= (p.Thr369=) n.962A= | |
12 | g.116012880T>A | CA481951160 | MED13L | c.1197A>T (p.Pro399=) c.1167A>T (p.Pro389=) c.625A>T c.1104A>T (p.Pro368=) n.961A>T | |
12 | g.116012880T>C | CA481951161 | MED13L | c.1197A>G (p.Pro399=) c.1167A>G (p.Pro389=) c.625A>G c.1104A>G (p.Pro368=) n.961A>G | |
12 | g.116012880T>G | CA481951162 | MED13L | c.1197A>C (p.Pro399=) c.1167A>C (p.Pro389=) c.625A>C c.1104A>C (p.Pro368=) n.961A>C | gnomAD v4 |
12 | g.116012881G>A | CA386898350 | MED13L | c.1196C>T (p.Pro399Leu) c.1166C>T (p.Pro389Leu) c.624C>T c.1103C>T (p.Pro368Leu) n.960C>T | |
12 | g.116012881G>C | CA386898351 | MED13L | c.1196C>G (p.Pro399Arg) c.1166C>G (p.Pro389Arg) c.624C>G c.1103C>G (p.Pro368Arg) n.960C>G | |
12 | g.116012881G>T | CA386898352 | MED13L | c.1196C>A (p.Pro399Gln) c.1166C>A (p.Pro389Gln) c.624C>A c.1103C>A (p.Pro368Gln) n.960C>A | |
12 | g.116012882G>A | CA386898353 | MED13L | c.1195C>T (p.Pro399Ser) c.1165C>T (p.Pro389Ser) c.623C>T c.1102C>T (p.Pro368Ser) n.959C>T | ClinVar dbSNP |
12 | g.116012882G>C | CA386898354 | MED13L | c.1195C>G (p.Pro399Ala) c.1165C>G (p.Pro389Ala) c.623C>G c.1102C>G (p.Pro368Ala) n.959C>G | |
12 | g.116012882G= | CA2065381572 | MED13L | c.1195C= (p.Pro399=) c.1165C= (p.Pro389=) c.623C= c.1102C= (p.Pro368=) n.959C= | |
12 | g.116012882G>T | CA386898355 | MED13L | c.1195C>A (p.Pro399Thr) c.1165C>A (p.Pro389Thr) c.623C>A c.1102C>A (p.Pro368Thr) n.959C>A | |
12 | g.116012883A>C | CA481951166 | MED13L | c.1194T>G (p.Thr398=) c.1164T>G (p.Thr388=) c.622T>G c.1101T>G (p.Thr367=) n.958T>G | |
12 | g.116012883A>G | CA481951165 | MED13L | c.1194T>C (p.Thr398=) c.1164T>C (p.Thr388=) c.622T>C c.1101T>C (p.Thr367=) n.958T>C | |
12 | g.116012883A>T | CA481951164 | MED13L | c.1194T>A (p.Thr398=) c.1164T>A (p.Thr388=) c.622T>A c.1101T>A (p.Thr367=) n.958T>A | |
12 | g.116012884G>A | CA6811470 | MED13L | c.1193C>T (p.Thr398Ile) c.1163C>T (p.Thr388Ile) c.621C>T c.1100C>T (p.Thr367Ile) n.957C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.116012884G>C | CA386898356 | MED13L | c.1193C>G (p.Thr398Ser) c.1163C>G (p.Thr388Ser) c.621C>G c.1100C>G (p.Thr367Ser) n.957C>G | |
12 | g.116012884G= | CA2065381576 | MED13L | c.1193C= (p.Thr398=) c.1163C= (p.Thr388=) c.621C= c.1100C= (p.Thr367=) n.957C= | |
12 | g.116012884G>T | CA386898357 | MED13L | c.1193C>A (p.Thr398Asn) c.1163C>A (p.Thr388Asn) c.621C>A c.1100C>A (p.Thr367Asn) n.957C>A | |
12 | g.116012885T>A | CA386898358 | MED13L | c.1192A>T (p.Thr398Ser) c.1162A>T (p.Thr388Ser) c.620A>T c.1099A>T (p.Thr367Ser) n.956A>T | dbSNP |
12 | g.116012885T>C | CA6811471 | MED13L | c.1192A>G (p.Thr398Ala) c.1162A>G (p.Thr388Ala) c.620A>G c.1099A>G (p.Thr367Ala) n.956A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.116012885T>G | CA386898359 | MED13L | c.1192A>C (p.Thr398Pro) c.1162A>C (p.Thr388Pro) c.620A>C c.1099A>C (p.Thr367Pro) n.956A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.116012885T= | CA2065381582 | MED13L | c.1192A= (p.Thr398=) c.1162A= (p.Thr388=) c.620A= c.1099A= (p.Thr367=) n.956A= | |
12 | g.116012886T>A | CA481951167 | MED13L | c.1191A>T (p.Ser397=) c.1161A>T (p.Ser387=) c.619A>T c.1098A>T (p.Ser366=) n.955A>T | |
12 | g.116012886T>C | CA481951168 | MED13L | c.1191A>G (p.Ser397=) c.1161A>G (p.Ser387=) c.619A>G c.1098A>G (p.Ser366=) n.955A>G | |
12 | g.116012886T>G | CA481951169 | MED13L | c.1191A>C (p.Ser397=) c.1161A>C (p.Ser387=) c.619A>C c.1098A>C (p.Ser366=) n.955A>C | |
12 | g.116012887G>A | CA386898362 | MED13L | c.1190C>T (p.Ser397Leu) c.1160C>T (p.Ser387Leu) c.618C>T c.1097C>T (p.Ser366Leu) n.954C>T | |
12 | g.116012887G>C | CA386898360 | MED13L | c.1190C>G (p.Ser397Ter) c.1160C>G (p.Ser387Ter) c.618C>G c.1097C>G (p.Ser366Ter) n.954C>G | |
12 | g.116012887G>T | CA386898361 | MED13L | c.1190C>A (p.Ser397Ter) c.1160C>A (p.Ser387Ter) c.618C>A c.1097C>A (p.Ser366Ter) n.954C>A | gnomAD v4 |
12 | g.116012888A= | CA2065381587 | MED13L | c.1189T= (p.Ser397=) c.1159T= (p.Ser387=) c.617T= c.1096T= (p.Ser366=) n.953T= | |
12 | g.116012888A>C | CA386898363 | MED13L | c.1189T>G (p.Ser397Ala) c.1159T>G (p.Ser387Ala) c.617T>G c.1096T>G (p.Ser366Ala) n.953T>G | |
12 | g.116012888A>G | CA6811472 | MED13L | c.1189T>C (p.Ser397Pro) c.1159T>C (p.Ser387Pro) c.617T>C c.1096T>C (p.Ser366Pro) n.953T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.116012888A>T | CA386898364 | MED13L | c.1189T>A (p.Ser397Thr) c.1159T>A (p.Ser387Thr) c.617T>A c.1096T>A (p.Ser366Thr) n.953T>A | |
12 | g.116012889C>A | CA386898365 | MED13L | c.1188G>T (p.Met396Ile) c.1158G>T (p.Met386Ile) c.616G>T c.1095G>T (p.Met365Ile) n.952G>T | |
12 | g.116012889C>G | CA386898366 | MED13L | c.1188G>C (p.Met396Ile) c.1158G>C (p.Met386Ile) c.616G>C c.1095G>C (p.Met365Ile) n.952G>C | |
12 | g.116012889C>T | CA386898367 | MED13L | c.1188G>A (p.Met396Ile) c.1158G>A (p.Met386Ile) c.616G>A c.1095G>A (p.Met365Ile) n.952G>A | |
12 | g.116012890A= | CA2065381589 | MED13L | c.1187T= (p.Met396=) c.1157T= (p.Met386=) c.615T= c.1094T= (p.Met365=) n.951T= | |
12 | g.116012890A>C | CA386898368 | MED13L | c.1187T>G (p.Met396Arg) c.1157T>G (p.Met386Arg) c.615T>G c.1094T>G (p.Met365Arg) n.951T>G | |
12 | g.116012890A>G | CA6811473 | MED13L | c.1187T>C (p.Met396Thr) c.1157T>C (p.Met386Thr) c.615T>C c.1094T>C (p.Met365Thr) n.951T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.116012890A>T | CA386898369 | MED13L | c.1187T>A (p.Met396Lys) c.1157T>A (p.Met386Lys) c.615T>A c.1094T>A (p.Met365Lys) n.951T>A | dbSNP |
12 | g.116012890_116012891delinsAT | CA2065381591 | MED13L | c.1186_1187delinsAT (p.Met396=) c.1156_1157delinsAT (p.Met386=) c.614_615delinsAT c.1093_1094delinsAT (p.Met365=) n.950_951delinsAT | |
12 | g.116012891T>A | CA386898370 | MED13L | c.1186A>T (p.Met396Leu) c.1156A>T (p.Met386Leu) c.614A>T c.1093A>T (p.Met365Leu) n.950A>T | |
12 | g.116012891T>C | CA386898371 | MED13L | c.1186A>G (p.Met396Val) c.1156A>G (p.Met386Val) c.614A>G c.1093A>G (p.Met365Val) n.950A>G | dbSNP gnomAD v4 |
12 | g.116012891T>G | CA386898372 | MED13L | c.1186A>C (p.Met396Leu) c.1156A>C (p.Met386Leu) c.614A>C c.1093A>C (p.Met365Leu) n.950A>C | |
12 | g.116012893del | CA16619446 | MED13L | c.1186del (p.Met396CysfsTer?) c.1156del (p.Met386CysfsTer?) c.614del c.1093del (p.Met365CysfsTer?) n.950del | ClinVar dbSNP |
12 | g.116012892T>A | CA386898373 | MED13L | c.1185A>T (p.Gln395His) c.1155A>T (p.Gln385His) c.613A>T c.1092A>T (p.Gln364His) n.949A>T | |
12 | g.116012892T>C | CA481951174 | MED13L | c.1185A>G (p.Gln395=) c.1155A>G (p.Gln385=) c.613A>G c.1092A>G (p.Gln364=) n.949A>G | gnomAD v4 |
12 | g.116012892T>G | CA6811474 | MED13L | c.1185A>C (p.Gln395His) c.1155A>C (p.Gln385His) c.613A>C c.1092A>C (p.Gln364His) n.949A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.116012892T= | CA2065381596 | MED13L | c.1185A= (p.Gln395=) c.1155A= (p.Gln385=) c.613A= c.1092A= (p.Gln364=) n.949A= | |
12 | g.116012893T>A | CA386898374 | MED13L | c.1184A>T (p.Gln395Leu) c.1154A>T (p.Gln385Leu) c.612A>T c.1091A>T (p.Gln364Leu) n.948A>T | |
12 | g.116012893T>C | CA386898376 | MED13L | c.1184A>G (p.Gln395Arg) c.1154A>G (p.Gln385Arg) c.612A>G c.1091A>G (p.Gln364Arg) n.948A>G | |
12 | g.116012893T>G | CA386898375 | MED13L | c.1184A>C (p.Gln395Pro) c.1154A>C (p.Gln385Pro) c.612A>C c.1091A>C (p.Gln364Pro) n.948A>C | |
12 | g.116012894G>A | CA386898377 | MED13L | c.1183C>T (p.Gln395Ter) c.1153C>T (p.Gln385Ter) c.611C>T c.1090C>T (p.Gln364Ter) n.947C>T | |
12 | g.116012894G>C | CA386898378 | MED13L | c.1183C>G (p.Gln395Glu) c.1153C>G (p.Gln385Glu) c.611C>G c.1090C>G (p.Gln364Glu) n.947C>G | |
12 | g.116012894G>T | CA386898379 | MED13L | c.1183C>A (p.Gln395Lys) c.1153C>A (p.Gln385Lys) c.611C>A c.1090C>A (p.Gln364Lys) n.947C>A | |
12 | g.116012895G>A | CA481951176 | MED13L | c.1182C>T (p.Ser394=) c.1152C>T (p.Ser384=) c.610C>T c.1089C>T (p.Ser363=) n.946C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.116012895G>C | CA386898380 | MED13L | c.1182C>G (p.Ser394Arg) c.1152C>G (p.Ser384Arg) c.610C>G c.1089C>G (p.Ser363Arg) n.946C>G | |
12 | g.116012895G= | CA2065381599 | MED13L | c.1182C= (p.Ser394=) c.1152C= (p.Ser384=) c.610C= c.1089C= (p.Ser363=) n.946C= | |
12 | g.116012895G>T | CA386898381 | MED13L | c.1182C>A (p.Ser394Arg) c.1152C>A (p.Ser384Arg) c.610C>A c.1089C>A (p.Ser363Arg) n.946C>A | |
12 | g.116012896C>A | CA386898382 | MED13L | c.1181G>T (p.Ser394Ile) c.1151G>T (p.Ser384Ile) c.609G>T c.1088G>T (p.Ser363Ile) n.945G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.116012896C= | CA2065381604 | MED13L | c.1181G= (p.Ser394=) c.1151G= (p.Ser384=) c.609G= c.1088G= (p.Ser363=) n.945G= | |
12 | g.116012896C>G | CA386898383 | MED13L | c.1181G>C (p.Ser394Thr) c.1151G>C (p.Ser384Thr) c.609G>C c.1088G>C (p.Ser363Thr) n.945G>C | |
12 | g.116012896C>T | CA386898384 | MED13L | c.1181G>A (p.Ser394Asn) c.1151G>A (p.Ser384Asn) c.609G>A c.1088G>A (p.Ser363Asn) n.945G>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.116012901_116012903del | CA2575306865 | MED13L | c.1179_1181del c.1149_1151del c.607_609del c.1086_1088del n.943_945del | |
12 | g.116012897T>A | CA386898385 | MED13L | c.1180A>T (p.Ser394Cys) c.1150A>T (p.Ser384Cys) c.608A>T c.1087A>T (p.Ser363Cys) n.944A>T | |
12 | g.116012897T>C | CA386898386 | MED13L | c.1180A>G (p.Ser394Gly) c.1150A>G (p.Ser384Gly) c.608A>G c.1087A>G (p.Ser363Gly) n.944A>G | |
12 | g.116012897T>G | CA386898387 | MED13L | c.1180A>C (p.Ser394Arg) c.1150A>C (p.Ser384Arg) c.608A>C c.1087A>C (p.Ser363Arg) n.944A>C | |
12 | g.116012898C>A | CA386898388 | MED13L | c.1179G>T (p.Arg393Ser) c.1149G>T (p.Arg383Ser) c.607G>T c.1086G>T (p.Lys362Asn) n.943G>T | |
12 | g.116012898C>G | CA386898389 | MED13L | c.1179G>C (p.Arg393Ser) c.1149G>C (p.Arg383Ser) c.607G>C c.1086G>C (p.Lys362Asn) n.943G>C | |
12 | g.116012898C>T | CA481951179 | MED13L | c.1179G>A (p.Arg393=) c.1149G>A (p.Arg383=) c.607G>A c.1086G>A (p.Lys362=) n.943G>A | |
12 | g.116012899del | CA2575306866 | MED13L | c.1179del (p.Ser394AlafsTer?) c.1149del (p.Ser384AlafsTer?) c.607del c.1086del n.943del | |
12 | g.116012899C>A | CA386898390 | MED13L | c.1178G>T (p.Arg393Met) c.1148G>T (p.Arg383Met) c.606G>T c.1086-1G>T (n.1086-1G>T) n.942G>T | |
12 | g.116012899C>G | CA386898392 | MED13L | c.1178G>C (p.Arg393Thr) c.1148G>C (p.Arg383Thr) c.606G>C c.1086-1G>C (n.1086-1G>C) n.942G>C | |
12 | g.116012899C>T | CA386898391 | MED13L | c.1178G>A (p.Arg393Lys) c.1148G>A (p.Arg383Lys) c.606G>A c.1086-1G>A (n.1086-1G>A) n.942G>A | |
12 | g.116012900T>A | CA386898393 | MED13L | c.1177A>T (p.Arg393Trp) c.1147A>T (p.Arg383Trp) c.605A>T c.1086-2A>T (n.1086-2A>T) n.941A>T | |
12 | g.116012900T>C | CA386898394 | MED13L | c.1177A>G (p.Arg393Gly) c.1147A>G (p.Arg383Gly) c.605A>G c.1086-2A>G (n.1086-2A>G) n.941A>G | |
12 | g.116012900T>G | CA481951183 | MED13L | c.1177A>C (p.Arg393=) c.1147A>C (p.Arg383=) c.605A>C c.1086-2A>C (n.1086-2A>C) n.941A>C | |
12 | g.116012901C>A | CA386898395 | MED13L | c.1176G>T (p.Lys392Asn) c.1146G>T (p.Lys382Asn) c.604G>T c.1086-3G>T (n.1086-3G>T) n.940G>T | |
12 | g.116012901C>G | CA386898396 | MED13L | c.1176G>C (p.Lys392Asn) c.1146G>C (p.Lys382Asn) c.604G>C c.1086-3G>C (n.1086-3G>C) n.940G>C | |
12 | g.116012901C>T | CA481951185 | MED13L | c.1176G>A (p.Lys392=) c.1146G>A (p.Lys382=) c.604G>A c.1086-3G>A (n.1086-3G>A) n.940G>A | gnomAD v4 |
12 | g.116012902C>A | CA386898397 | MED13L | c.1176-1G>T (n.1176-1G>T) c.1146-1G>T (n.1146-1G>T) c.604-1G>T c.1086-4G>T (n.1086-4G>T) n.940-1G>T | |
12 | g.116012902C= | CA2065381611 | MED13L | c.1176-1G= (n.1176-1G=) c.1146-1G= (n.1146-1G=) c.604-1G= c.1086-4G= (n.1086-4G=) n.940-1G= | |
12 | g.116012902C>G | CA386898398 | MED13L | c.1176-1G>C (n.1176-1G>C) c.1146-1G>C (n.1146-1G>C) c.604-1G>C c.1086-4G>C (n.1086-4G>C) n.940-1G>C | |
12 | g.116012902C>T | CA386898399 | MED13L | c.1176-1G>A (n.1176-1G>A) c.1146-1G>A (n.1146-1G>A) c.604-1G>A c.1086-4G>A (n.1086-4G>A) n.940-1G>A | ClinVar dbSNP |
12 | g.116012903T>A | CA386898400 | MED13L | c.1176-2A>T (n.1176-2A>T) c.1146-2A>T (n.1146-2A>T) c.604-2A>T c.1086-5A>T (n.1086-5A>T) n.940-2A>T | |
12 | g.116012903T>C | CA386898401 | MED13L | c.1176-2A>G (n.1176-2A>G) c.1146-2A>G (n.1146-2A>G) c.604-2A>G c.1086-5A>G (n.1086-5A>G) n.940-2A>G | |
12 | g.116012903T>G | CA386898402 | MED13L | c.1176-2A>C (n.1176-2A>C) c.1146-2A>C (n.1146-2A>C) c.604-2A>C c.1086-5A>C (n.1086-5A>C) n.940-2A>C | |
12 | g.116012904A= | CA2065381615 | MED13L | c.1176-3T= (n.1176-3T=) c.1146-3T= (n.1146-3T=) c.604-3T= c.1086-6T= (n.1086-6T=) n.940-3T= | |
12 | g.116012904A>G | CA6811475 | MED13L | c.1176-3T>C (n.1176-3T>C) c.1146-3T>C (n.1146-3T>C) c.604-3T>C c.1086-6T>C (n.1086-6T>C) n.940-3T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.116012905A= | CA2065381618 | MED13L | c.1176-4T= (n.1176-4T=) c.1146-4T= (n.1146-4T=) c.604-4T= c.1086-7T= (n.1086-7T=) n.940-4T= | |
12 | g.116012905A>C | CA2575306867 | MED13L | c.1176-4T>G (n.1176-4T>G) c.1146-4T>G (n.1146-4T>G) c.604-4T>G c.1086-7T>G (n.1086-7T>G) n.940-4T>G | |
12 | g.116012905A>G | CA244167858 | MED13L | c.1176-4T>C (n.1176-4T>C) c.1146-4T>C (n.1146-4T>C) c.604-4T>C c.1086-7T>C (n.1086-7T>C) n.940-4T>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.116012906A>G | CA2727360030 | MED13L | c.1176-5T>C (n.1176-5T>C) c.1146-5T>C (n.1146-5T>C) c.604-5T>C c.1086-8T>C (n.1086-8T>C) n.940-5T>C | dbSNP |
12 | g.116012907A>G | CA2575306868 | MED13L | c.1176-6T>C (n.1176-6T>C) c.1146-6T>C (n.1146-6T>C) c.604-6T>C c.1086-9T>C (n.1086-9T>C) n.940-6T>C | |
12 | g.116012908G>A | CA684019969 | MED13L | c.1176-7C>T (n.1176-7C>T) c.1146-7C>T (n.1146-7C>T) c.604-7C>T c.1086-10C>T (n.1086-10C>T) n.940-7C>T | dbSNP gnomAD v4 |
12 | g.116012908G= | CA2065381621 | MED13L | c.1176-7C= (n.1176-7C=) c.1146-7C= (n.1146-7C=) c.604-7C= c.1086-10C= (n.1086-10C=) n.940-7C= | |
12 | g.116012908G>T | CA2621147843 | MED13L | c.1176-7C>A (n.1176-7C>A) c.1146-7C>A (n.1146-7C>A) c.604-7C>A c.1086-10C>A (n.1086-10C>A) n.940-7C>A | gnomAD v4 |
12 | g.116012909G>C | CA2621147844 | MED13L | c.1176-8C>G (n.1176-8C>G) c.1146-8C>G (n.1146-8C>G) c.604-8C>G c.1086-11C>G (n.1086-11C>G) n.940-8C>G | gnomAD v4 |
12 | g.116012909G>T | CA2621147845 | MED13L | c.1176-8C>A (n.1176-8C>A) c.1146-8C>A (n.1146-8C>A) c.604-8C>A c.1086-11C>A (n.1086-11C>A) n.940-8C>A | gnomAD v4 |
12 | g.116012910G>A | CA2621147846 | MED13L | c.1176-9C>T (n.1176-9C>T) c.1146-9C>T (n.1146-9C>T) c.604-9C>T c.1086-12C>T (n.1086-12C>T) n.940-9C>T | gnomAD v4 |
12 | g.116012910G= | CA2065381622 | MED13L | c.1176-9C= (n.1176-9C=) c.1146-9C= (n.1146-9C=) c.604-9C= c.1086-12C= (n.1086-12C=) n.940-9C= | |
12 | g.116012910G>T | CA607656104 | MED13L | c.1176-9C>A (n.1176-9C>A) c.1146-9C>A (n.1146-9C>A) c.604-9C>A c.1086-12C>A (n.1086-12C>A) n.940-9C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.116012912T>C | CA2575306869 | MED13L | c.1176-11A>G (n.1176-11A>G) c.1146-11A>G (n.1146-11A>G) c.604-11A>G c.1086-14A>G (n.1086-14A>G) n.940-11A>G | |
12 | g.116012918T>A | CA2727360083 | MED13L | c.1176-17A>T (n.1176-17A>T) c.1146-17A>T (n.1146-17A>T) c.604-17A>T c.1086-20A>T (n.1086-20A>T) n.940-17A>T | dbSNP |
12 | g.116012920T>C | CA2065381624 | MED13L | c.1176-19A>G (n.1176-19A>G) c.1146-19A>G (n.1146-19A>G) c.604-19A>G c.1086-22A>G (n.1086-22A>G) n.940-19A>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.116012920T>G | CA2727158246 | MED13L | c.1176-19A>C (n.1176-19A>C) c.1146-19A>C (n.1146-19A>C) c.604-19A>C c.1086-22A>C (n.1086-22A>C) n.940-19A>C | dbSNP |
12 | g.116012920T= | CA2065381623 | MED13L | c.1176-19A= (n.1176-19A=) c.1146-19A= (n.1146-19A=) c.604-19A= c.1086-22A= (n.1086-22A=) n.940-19A= | |
12 | g.116012921G>T | CA2621147847 | MED13L | c.1176-20C>A (n.1176-20C>A) c.1146-20C>A (n.1146-20C>A) c.604-20C>A c.1086-23C>A (n.1086-23C>A) n.940-20C>A | gnomAD v4 |
12 | g.116012924T>C | CA6811476 | MED13L | c.1176-23A>G (n.1176-23A>G) c.1146-23A>G (n.1146-23A>G) c.604-23A>G c.1086-26A>G (n.1086-26A>G) n.940-23A>G | dbSNP ExAC gnomAD v4 |
12 | g.116012924T= | CA2065381627 | MED13L | c.1176-23A= (n.1176-23A=) c.1146-23A= (n.1146-23A=) c.604-23A= c.1086-26A= (n.1086-26A=) n.940-23A= | |
12 | g.116012927T>A | CA2621147848 | MED13L | c.1176-26A>T (n.1176-26A>T) c.1146-26A>T (n.1146-26A>T) c.604-26A>T c.1086-29A>T (n.1086-29A>T) n.940-26A>T | gnomAD v4 |
12 | g.116012927T>C | CA6811477 | MED13L | c.1176-26A>G (n.1176-26A>G) c.1146-26A>G (n.1146-26A>G) c.604-26A>G c.1086-29A>G (n.1086-29A>G) n.940-26A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.116012927T>G | CA952178968 | MED13L | c.1176-26A>C (n.1176-26A>C) c.1146-26A>C (n.1146-26A>C) c.604-26A>C c.1086-29A>C (n.1086-29A>C) n.940-26A>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.116012927T= | CA2065381633 | MED13L | c.1176-26A= (n.1176-26A=) c.1146-26A= (n.1146-26A=) c.604-26A= c.1086-29A= (n.1086-29A=) n.940-26A= | |
12 | g.116012931_116012932del | CA2575306870 | MED13L | c.1176-27_1176-26del (n.1176-27_1176-26del) c.1146-27_1146-26del (n.1146-27_1146-26del) c.604-27_604-26del c.1086-30_1086-29del (n.1086-30_1086-29del) n.940-27_940-26del | |
12 | g.116012928G>A | CA684019973 | MED13L | c.1176-27C>T (n.1176-27C>T) c.1146-27C>T (n.1146-27C>T) c.604-27C>T c.1086-30C>T (n.1086-30C>T) n.940-27C>T | dbSNP |
12 | g.116012928G= | CA2065381636 | MED13L | c.1176-27C= (n.1176-27C=) c.1146-27C= (n.1146-27C=) c.604-27C= c.1086-30C= (n.1086-30C=) n.940-27C= | |
12 | g.116012928G>T | CA2621147849 | MED13L | c.1176-27C>A (n.1176-27C>A) c.1146-27C>A (n.1146-27C>A) c.604-27C>A c.1086-30C>A (n.1086-30C>A) n.940-27C>A | gnomAD v4 |
12 | g.116012929_116012930insTCACACATAA | CA2621147850 | MED13L | c.1176-29_1176-28insTTATGTGTGA (n.1176-29_1176-28insTTATGTGTGA) c.1146-29_1146-28insTTATGTGTGA (n.1146-29_1146-28insTTATGTGTGA) c.604-29_604-28insTTATGTGTGA c.1086-32_1086-31insTTATGTGTGA (n.1086-32_1086-31insTTATGTGTGA) n.940-29_940-28insTTATGTGTGA | gnomAD v4 |
12 | g.116012930del | CA2621147851 | MED13L | c.1176-29del (n.1176-29del) c.1146-29del (n.1146-29del) c.604-29del c.1086-32del (n.1086-32del) n.940-29del | gnomAD v4 |
12 | g.116012930G>A | CA2621147852 | MED13L | c.1176-29C>T (n.1176-29C>T) c.1146-29C>T (n.1146-29C>T) c.604-29C>T c.1086-32C>T (n.1086-32C>T) n.940-29C>T | gnomAD v4 |
12 | g.116012930G>T | CA2621147853 | MED13L | c.1176-29C>A (n.1176-29C>A) c.1146-29C>A (n.1146-29C>A) c.604-29C>A c.1086-32C>A (n.1086-32C>A) n.940-29C>A | gnomAD v4 |
12 | g.116012932G>C | CA2621147854 | MED13L | c.1176-31C>G (n.1176-31C>G) c.1146-31C>G (n.1146-31C>G) c.604-31C>G c.1086-34C>G (n.1086-34C>G) n.940-31C>G | gnomAD v4 |
12 | g.116012932G>T | CA2621147855 | MED13L | c.1176-31C>A (n.1176-31C>A) c.1146-31C>A (n.1146-31C>A) c.604-31C>A c.1086-34C>A (n.1086-34C>A) n.940-31C>A | gnomAD v4 |