Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.204155095A>C | CA344332296 | REN | c.1142T>G (p.Leu381Arg) c.1028T>G (p.Leu343Arg) | |
1 | g.204155095A>G | CA344332297 | REN | c.1142T>C (p.Leu381Pro) c.1028T>C (p.Leu343Pro) | |
1 | g.204155095A>T | CA344332298 | REN | c.1142T>A (p.Leu381Gln) c.1028T>A (p.Leu343Gln) | |
1 | g.204155096G>A | CA422833176 | REN | c.1141C>T (p.Leu381=) c.1027C>T (p.Leu343=) | |
1 | g.204155096G>C | CA344332299 | REN | c.1141C>G (p.Leu381Val) c.1027C>G (p.Leu343Val) | |
1 | g.204155096G>T | CA344332300 | REN | c.1141C>A (p.Leu381Met) c.1027C>A (p.Leu343Met) | COSMIC |
1 | g.204155097G>A | CA422833177 | REN | c.1140C>T (p.Ala380=) c.1026C>T (p.Ala342=) | |
1 | g.204155097G>C | CA422833179 | REN | c.1140C>G (p.Ala380=) c.1026C>G (p.Ala342=) | |
1 | g.204155097G>T | CA422833180 | REN | c.1140C>A (p.Ala380=) c.1026C>A (p.Ala342=) | gnomAD v4 |
1 | g.204155098G>A | CA344332303 | REN | c.1139C>T (p.Ala380Val) c.1025C>T (p.Ala342Val) | |
1 | g.204155098G>C | CA344332302 | REN | c.1139C>G (p.Ala380Gly) c.1025C>G (p.Ala342Gly) | |
1 | g.204155098G>T | CA344332301 | REN | c.1139C>A (p.Ala380Asp) c.1025C>A (p.Ala342Asp) | |
1 | g.204155099C>A | CA344332304 | REN | c.1138G>T (p.Ala380Ser) c.1024G>T (p.Ala342Ser) | |
1 | g.204155099C= | CA2482055244 | REN | c.1138G= (p.Ala380=) c.1024G= (p.Ala342=) | |
1 | g.204155099C>G | CA344332305 | REN | c.1138G>C (p.Ala380Pro) c.1024G>C (p.Ala342Pro) | |
1 | g.204155099C>T | CA344332306 | REN | c.1138G>A (p.Ala380Thr) c.1024G>A (p.Ala342Thr) | dbSNP |
1 | g.204155100C>A | CA344332307 | REN | c.1137G>T (p.Trp379Cys) c.1023G>T (p.Trp341Cys) | |
1 | g.204155100C>G | CA344332308 | REN | c.1137G>C (p.Trp379Cys) c.1023G>C (p.Trp341Cys) | |
1 | g.204155100C>T | CA344332309 | REN | c.1137G>A (p.Trp379Ter) c.1023G>A (p.Trp341Ter) | |
1 | g.204155101C>A | CA344332310 | REN | c.1136G>T (p.Trp379Leu) c.1022G>T (p.Trp341Leu) | |
1 | g.204155101C>G | CA344332312 | REN | c.1136G>C (p.Trp379Ser) c.1022G>C (p.Trp341Ser) | |
1 | g.204155101C>T | CA344332311 | REN | c.1136G>A (p.Trp379Ter) c.1022G>A (p.Trp341Ter) | gnomAD v4 |
1 | g.204155102A>C | CA344332313 | REN | c.1135T>G (p.Trp379Gly) c.1021T>G (p.Trp341Gly) | |
1 | g.204155102A>G | CA344332314 | REN | c.1135T>C (p.Trp379Arg) c.1021T>C (p.Trp341Arg) | |
1 | g.204155102A>T | CA344332315 | REN | c.1135T>A (p.Trp379Arg) c.1021T>A (p.Trp341Arg) | |
1 | g.204155103G>A | CA422833187 | REN | c.1134C>T (p.Thr378=) c.1020C>T (p.Thr340=) | |
1 | g.204155103G>C | CA422833188 | REN | c.1134C>G (p.Thr378=) c.1020C>G (p.Thr340=) | |
1 | g.204155103G>T | CA422833189 | REN | c.1134C>A (p.Thr378=) c.1020C>A (p.Thr340=) | |
1 | g.204155103_204155111dup | CA2650012269 | REN | c.1126_1134dup (p.Thr378_Trp379insGlyProThr) c.1012_1020dup (p.Thr340_Trp341insGlyProThr) | gnomAD v4 |
1 | g.204155104G>A | CA344332316 | REN | c.1133C>T (p.Thr378Ile) c.1019C>T (p.Thr340Ile) | gnomAD v4 |
1 | g.204155104G>C | CA344332317 | REN | c.1133C>G (p.Thr378Ser) c.1019C>G (p.Thr340Ser) | |
1 | g.204155104G>T | CA344332318 | REN | c.1133C>A (p.Thr378Asn) c.1019C>A (p.Thr340Asn) | |
1 | g.204155105T>A | CA344332319 | REN | c.1132A>T (p.Thr378Ser) c.1018A>T (p.Thr340Ser) | |
1 | g.204155105T>C | CA344332320 | REN | c.1132A>G (p.Thr378Ala) c.1018A>G (p.Thr340Ala) | |
1 | g.204155105T>G | CA344332321 | REN | c.1132A>C (p.Thr378Pro) c.1018A>C (p.Thr340Pro) | |
1 | g.204155106G>A | CA422833193 | REN | c.1131C>T (p.Pro377=) c.1017C>T (p.Pro339=) | |
1 | g.204155106G>C | CA422833194 | REN | c.1131C>G (p.Pro377=) c.1017C>G (p.Pro339=) | |
1 | g.204155106G>T | CA422833195 | REN | c.1131C>A (p.Pro377=) c.1017C>A (p.Pro339=) | |
1 | g.204155107G>A | CA344332322 | REN | c.1130C>T (p.Pro377Leu) c.1016C>T (p.Pro339Leu) | |
1 | g.204155107G>C | CA344332323 | REN | c.1130C>G (p.Pro377Arg) c.1016C>G (p.Pro339Arg) | |
1 | g.204155107G>T | CA344332324 | REN | c.1130C>A (p.Pro377His) c.1016C>A (p.Pro339His) | |
1 | g.204155108G>A | CA344332327 | REN | c.1129C>T (p.Pro377Ser) c.1015C>T (p.Pro339Ser) | |
1 | g.204155108G>C | CA344332326 | REN | c.1129C>G (p.Pro377Ala) c.1015C>G (p.Pro339Ala) | |
1 | g.204155108G>T | CA344332325 | REN | c.1129C>A (p.Pro377Thr) c.1015C>A (p.Pro339Thr) | |
1 | g.204155109T>A | CA422833200 | REN | c.1128A>T (p.Gly376=) c.1014A>T (p.Gly338=) | |
1 | g.204155109T>C | CA422833201 | REN | c.1128A>G (p.Gly376=) c.1014A>G (p.Gly338=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204155109T>G | CA422833202 | REN | c.1128A>C (p.Gly376=) c.1014A>C (p.Gly338=) | |
1 | g.204155109T= | CA2482055246 | REN | c.1128A= (p.Gly376=) c.1014A= (p.Gly338=) | |
1 | g.204155110C>A | CA344332328 | REN | c.1127G>T (p.Gly376Val) c.1013G>T (p.Gly338Val) | |
1 | g.204155110C>G | CA344332330 | REN | c.1127G>C (p.Gly376Ala) c.1013G>C (p.Gly338Ala) | |
1 | g.204155110C>T | CA344332329 | REN | c.1127G>A (p.Gly376Glu) c.1013G>A (p.Gly338Glu) | |
1 | g.204155111C>A | CA344332331 | REN | c.1126G>T (p.Gly376Ter) c.1012G>T (p.Gly338Ter) | |
1 | g.204155111C>G | CA344332333 | REN | c.1126G>C (p.Gly376Arg) c.1012G>C (p.Gly338Arg) | |
1 | g.204155111C>T | CA344332332 | REN | c.1126G>A (p.Gly376Arg) c.1012G>A (p.Gly338Arg) | COSMIC |
1 | g.204155112A= | CA2482055249 | REN | c.1125T= (p.Thr375=) c.1011T= (p.Thr337=) | |
1 | g.204155112A>C | CA1344646 | REN | c.1125T>G (p.Thr375=) c.1011T>G (p.Thr337=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204155112A>G | CA422833205 | REN | c.1125T>C (p.Thr375=) c.1011T>C (p.Thr337=) | gnomAD v4 |
1 | g.204155112A>T | CA422833206 | REN | c.1125T>A (p.Thr375=) c.1011T>A (p.Thr337=) | |
1 | g.204155113G>A | CA344332336 | REN | c.1124C>T (p.Thr375Ile) c.1010C>T (p.Thr337Ile) | |
1 | g.204155113G>C | CA344332335 | REN | c.1124C>G (p.Thr375Ser) c.1010C>G (p.Thr337Ser) | |
1 | g.204155113G= | CA1143608725 | REN | c.1124C= (p.Thr375=) c.1010C= (p.Thr337=) | |
1 | g.204155113G>T | CA1344647 | REN | c.1124C>A (p.Thr375Asn) c.1010C>A (p.Thr337Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204155114T>A | CA344332337 | REN | c.1123A>T (p.Thr375Ser) c.1009A>T (p.Thr337Ser) | |
1 | g.204155114T>C | CA344332338 | REN | c.1123A>G (p.Thr375Ala) c.1009A>G (p.Thr337Ala) | gnomAD v4 |
1 | g.204155114T>G | CA344332339 | REN | c.1123A>C (p.Thr375Pro) c.1009A>C (p.Thr337Pro) | |
1 | g.204155115G>A | CA422833211 | REN | c.1122C>T (p.Pro374=) c.1008C>T (p.Pro336=) | |
1 | g.204155115G>C | CA422833209 | REN | c.1122C>G (p.Pro374=) c.1008C>G (p.Pro336=) | |
1 | g.204155115G>T | CA422833208 | REN | c.1122C>A (p.Pro374=) c.1008C>A (p.Pro336=) | |
1 | g.204155117dup | CA2843184512 | REN | c.1122dup (p.Thr375HisfsTer20) c.1008dup (p.Thr337HisfsTer20) | |
1 | g.204155116G>A | CA344332342 | REN | c.1121C>T (p.Pro374Leu) c.1007C>T (p.Pro336Leu) | |
1 | g.204155116G>C | CA344332341 | REN | c.1121C>G (p.Pro374Arg) c.1007C>G (p.Pro336Arg) | |
1 | g.204155116G>T | CA344332340 | REN | c.1121C>A (p.Pro374His) c.1007C>A (p.Pro336His) | gnomAD v4 |
1 | g.204155117G>A | CA344332343 | REN | c.1120C>T (p.Pro374Ser) c.1006C>T (p.Pro336Ser) | gnomAD v4 |
1 | g.204155117G>C | CA344332344 | REN | c.1120C>G (p.Pro374Ala) c.1006C>G (p.Pro336Ala) | |
1 | g.204155117G>T | CA344332345 | REN | c.1120C>A (p.Pro374Thr) c.1006C>A (p.Pro336Thr) | |
1 | g.204155118T>A | CA422833213 | REN | c.1119A>T (p.Pro373=) c.1005A>T (p.Pro335=) | |
1 | g.204155118T>C | CA422833214 | REN | c.1119A>G (p.Pro373=) c.1005A>G (p.Pro335=) | |
1 | g.204155118T>G | CA422833215 | REN | c.1119A>C (p.Pro373=) c.1005A>C (p.Pro335=) | |
1 | g.204155119G>A | CA1344648 | REN | c.1118C>T (p.Pro373Leu) c.1004C>T (p.Pro335Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204155119G>C | CA344332346 | REN | c.1118C>G (p.Pro373Arg) c.1004C>G (p.Pro335Arg) | |
1 | g.204155119G= | CA1144430827 | REN | c.1118C= (p.Pro373=) c.1004C= (p.Pro335=) | |
1 | g.204155119G>T | CA344332347 | REN | c.1118C>A (p.Pro373Gln) c.1004C>A (p.Pro335Gln) | |
1 | g.204155120G>A | CA344332350 | REN | c.1117C>T (p.Pro373Ser) c.1003C>T (p.Pro335Ser) | dbSNP gnomAD v4 |
1 | g.204155120G>C | CA344332348 | REN | c.1117C>G (p.Pro373Ala) c.1003C>G (p.Pro335Ala) | |
1 | g.204155120G= | CA2482055252 | REN | c.1117C= (p.Pro373=) c.1003C= (p.Pro335=) | |
1 | g.204155120G>T | CA344332349 | REN | c.1117C>A (p.Pro373Thr) c.1003C>A (p.Pro335Thr) | |
1 | g.204155121C>A | CA422833219 | REN | c.1116G>T (p.Pro372=) c.1002G>T (p.Pro334=) | |
1 | g.204155121C= | CA1141897714 | REN | c.1116G= (p.Pro372=) c.1002G= (p.Pro334=) | |
1 | g.204155121C>G | CA422833222 | REN | c.1116G>C (p.Pro372=) c.1002G>C (p.Pro334=) | |
1 | g.204155121C>T | CA1344649 | REN | c.1116G>A (p.Pro372=) c.1002G>A (p.Pro334=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204155122G>A | CA1344650 | REN | c.1115C>T (p.Pro372Leu) c.1001C>T (p.Pro334Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204155122G>C | CA344332351 | REN | c.1115C>G (p.Pro372Arg) c.1001C>G (p.Pro334Arg) | |
1 | g.204155122G= | CA2482055257 | REN | c.1115C= (p.Pro372=) c.1001C= (p.Pro334=) | |
1 | g.204155122G>T | CA344332352 | REN | c.1115C>A (p.Pro372Gln) c.1001C>A (p.Pro334Gln) | |
1 | g.204155123G>A | CA344332353 | REN | c.1114C>T (p.Pro372Ser) c.1000C>T (p.Pro334Ser) | |
1 | g.204155123G>C | CA344332354 | REN | c.1114C>G (p.Pro372Ala) c.1000C>G (p.Pro334Ala) | |
1 | g.204155123G>T | CA344332355 | REN | c.1114C>A (p.Pro372Thr) c.1000C>A (p.Pro334Thr) | |
1 | g.204155124G>A | CA1344651 | REN | c.1113C>T (p.Ile371=) c.999C>T (p.Ile333=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204155124G>C | CA344332356 | REN | c.1113C>G (p.Ile371Met) c.999C>G (p.Ile333Met) | |
1 | g.204155124G= | CA1148244582 | REN | c.1113C= (p.Ile371=) c.999C= (p.Ile333=) | |
1 | g.204155124G>T | CA422833230 | REN | c.1113C>A (p.Ile371=) c.999C>A (p.Ile333=) | |
1 | g.204155125A>C | CA344332357 | REN | c.1112T>G (p.Ile371Ser) c.998T>G (p.Ile333Ser) | |
1 | g.204155125A>G | CA344332358 | REN | c.1112T>C (p.Ile371Thr) c.998T>C (p.Ile333Thr) | |
1 | g.204155125A>T | CA344332359 | REN | c.1112T>A (p.Ile371Asn) c.998T>A (p.Ile333Asn) | |
1 | g.204155126T>A | CA344332360 | REN | c.1111A>T (p.Ile371Phe) c.997A>T (p.Ile333Phe) | |
1 | g.204155126T>C | CA344332362 | REN | c.1111A>G (p.Ile371Val) c.997A>G (p.Ile333Val) | |
1 | g.204155126T>G | CA344332361 | REN | c.1111A>C (p.Ile371Leu) c.997A>C (p.Ile333Leu) | |
1 | g.204155127A>C | CA344332363 | REN | c.1110T>G (p.Asp370Glu) c.996T>G (p.Asp332Glu) | |
1 | g.204155127A>G | CA422833235 | REN | c.1110T>C (p.Asp370=) c.996T>C (p.Asp332=) | |
1 | g.204155127A>T | CA344332364 | REN | c.1110T>A (p.Asp370Glu) c.996T>A (p.Asp332Glu) | |
1 | g.204155128T>A | CA344332365 | REN | c.1109A>T (p.Asp370Val) c.995A>T (p.Asp332Val) | |
1 | g.204155128T>C | CA344332366 | REN | c.1109A>G (p.Asp370Gly) c.995A>G (p.Asp332Gly) | |
1 | g.204155128T>G | CA344332367 | REN | c.1109A>C (p.Asp370Ala) c.995A>C (p.Asp332Ala) | |
1 | g.204155129C>A | CA344332368 | REN | c.1108G>T (p.Asp370Tyr) c.994G>T (p.Asp332Tyr) | |
1 | g.204155129C>G | CA344332369 | REN | c.1108G>C (p.Asp370His) c.994G>C (p.Asp332His) | |
1 | g.204155129C>T | CA344332370 | REN | c.1108G>A (p.Asp370Asn) c.994G>A (p.Asp332Asn) | |
1 | g.204155130C>A | CA344332371 | REN | c.1107G>T (p.Met369Ile) c.993G>T (p.Met331Ile) | |
1 | g.204155130C>G | CA344332372 | REN | c.1107G>C (p.Met369Ile) c.993G>C (p.Met331Ile) | |
1 | g.204155130C>T | CA344332373 | REN | c.1107G>A (p.Met369Ile) c.993G>A (p.Met331Ile) | |
1 | g.204155131A>C | CA344332376 | REN | c.1106T>G (p.Met369Arg) c.992T>G (p.Met331Arg) | |
1 | g.204155131A>G | CA344332375 | REN | c.1106T>C (p.Met369Thr) c.992T>C (p.Met331Thr) | |
1 | g.204155131A>T | CA344332374 | REN | c.1106T>A (p.Met369Lys) c.992T>A (p.Met331Lys) | |
1 | g.204155131dup | CA2843184513 | REN | c.1106dup (p.Met369IlefsTer26) c.992dup (p.Met331IlefsTer26) | |
1 | g.204155132T>A | CA344332377 | REN | c.1105A>T (p.Met369Leu) c.991A>T (p.Met331Leu) | |
1 | g.204155132T>C | CA344332378 | REN | c.1105A>G (p.Met369Val) c.991A>G (p.Met331Val) | gnomAD v4 |
1 | g.204155132T>G | CA344332379 | REN | c.1105A>C (p.Met369Leu) c.991A>C (p.Met331Leu) | |
1 | g.204155132dup | CA2843184514 | REN | c.1105dup (p.Met369AsnfsTer26) c.991dup (p.Met331AsnfsTer26) | |
1 | g.204155133G>A | CA422833242 | REN | c.1104C>T (p.Ala368=) c.990C>T (p.Ala330=) | dbSNP gnomAD v4 |
1 | g.204155133G>C | CA422833243 | REN | c.1104C>G (p.Ala368=) c.990C>G (p.Ala330=) | |
1 | g.204155133G= | CA2482055259 | REN | c.1104C= (p.Ala368=) c.990C= (p.Ala330=) | |
1 | g.204155133G>T | CA422833244 | REN | c.1104C>A (p.Ala368=) c.990C>A (p.Ala330=) | |
1 | g.204155134G>A | CA344332380 | REN | c.1103C>T (p.Ala368Val) c.989C>T (p.Ala330Val) | |
1 | g.204155134G>C | CA344332381 | REN | c.1103C>G (p.Ala368Gly) c.989C>G (p.Ala330Gly) | |
1 | g.204155134G>T | CA344332382 | REN | c.1103C>A (p.Ala368Asp) c.989C>A (p.Ala330Asp) | |
1 | g.204155135C>A | CA344332383 | REN | c.1102G>T (p.Ala368Ser) c.988G>T (p.Ala330Ser) | gnomAD v4 |
1 | g.204155135C= | CA2482055264 | REN | c.1102G= (p.Ala368=) c.988G= (p.Ala330=) | |
1 | g.204155135C>G | CA1344653 | REN | c.1102G>C (p.Ala368Pro) c.988G>C (p.Ala330Pro) | dbSNP ExAC gnomAD v2 |
1 | g.204155135C>T | CA1344652 | REN | c.1102G>A (p.Ala368Thr) c.988G>A (p.Ala330Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.204155136G>A | CA1344654 | REN | c.1101C>T (p.His367=) c.987C>T (p.His329=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.204155136G>C | CA344332384 | REN | c.1101C>G (p.His367Gln) c.987C>G (p.His329Gln) | |
1 | g.204155136G= | CA1143885352 | REN | c.1101C= (p.His367=) c.987C= (p.His329=) | |
1 | g.204155136G>T | CA344332386 | REN | c.1101C>A (p.His367Gln) c.987C>A (p.His329Gln) | gnomAD v4 |
1 | g.204155137T>A | CA344332393 | REN | c.1100A>T (p.His367Leu) c.986A>T (p.His329Leu) | |
1 | g.204155137T>C | CA344332391 | REN | c.1100A>G (p.His367Arg) c.986A>G (p.His329Arg) | |
1 | g.204155137T>G | CA344332388 | REN | c.1100A>C (p.His367Pro) c.986A>C (p.His329Pro) | |
1 | g.204155138G>A | CA344332395 | REN | c.1099C>T (p.His367Tyr) c.985C>T (p.His329Tyr) | |
1 | g.204155138G>C | CA344332396 | REN | c.1099C>G (p.His367Asp) c.985C>G (p.His329Asp) | |
1 | g.204155138G>T | CA344332397 | REN | c.1099C>A (p.His367Asn) c.985C>A (p.His329Asn) | |
1 | g.204155139G>A | CA422833254 | REN | c.1098C>T (p.Ile366=) c.984C>T (p.Ile328=) | |
1 | g.204155139G>C | CA344332398 | REN | c.1098C>G (p.Ile366Met) c.984C>G (p.Ile328Met) | |
1 | g.204155139G>T | CA422833251 | REN | c.1098C>A (p.Ile366=) c.984C>A (p.Ile328=) | gnomAD v4 |
1 | g.204155140A= | CA2482055268 | REN | c.1097T= (p.Ile366=) c.983T= (p.Ile328=) | |
1 | g.204155140A>C | CA344332399 | REN | c.1097T>G (p.Ile366Ser) c.983T>G (p.Ile328Ser) | |
1 | g.204155140A>G | CA344332400 | REN | c.1097T>C (p.Ile366Thr) c.983T>C (p.Ile328Thr) | dbSNP |
1 | g.204155140A>T | CA344332401 | REN | c.1097T>A (p.Ile366Asn) c.983T>A (p.Ile328Asn) | |
1 | g.204155141T>A | CA344332402 | REN | c.1096A>T (p.Ile366Phe) c.982A>T (p.Ile328Phe) | dbSNP gnomAD v2 |
1 | g.204155141T>C | CA344332403 | REN | c.1096A>G (p.Ile366Val) c.982A>G (p.Ile328Val) | gnomAD v4 |
1 | g.204155141T>G | CA344332404 | REN | c.1096A>C (p.Ile366Leu) c.982A>C (p.Ile328Leu) | |
1 | g.204155141T= | CA2482055271 | REN | c.1096A= (p.Ile366=) c.982A= (p.Ile328=) | |
1 | g.204155142G>A | CA422833258 | REN | c.1095C>T (p.Ala365=) c.981C>T (p.Ala327=) | |
1 | g.204155142G>C | CA422833261 | REN | c.1095C>G (p.Ala365=) c.981C>G (p.Ala327=) | gnomAD v4 |
1 | g.204155142G>T | CA422833259 | REN | c.1095C>A (p.Ala365=) c.981C>A (p.Ala327=) | |
1 | g.204155143G>A | CA344332405 | REN | c.1094C>T (p.Ala365Val) c.980C>T (p.Ala327Val) | dbSNP COSMIC |
1 | g.204155143G>C | CA344332406 | REN | c.1094C>G (p.Ala365Gly) c.980C>G (p.Ala327Gly) | |
1 | g.204155143G= | CA2482055273 | REN | c.1094C= (p.Ala365=) c.980C= (p.Ala327=) | |
1 | g.204155143G>T | CA344332407 | REN | c.1094C>A (p.Ala365Asp) c.980C>A (p.Ala327Asp) | gnomAD v4 |
1 | g.204155144C>A | CA344332410 | REN | c.1093G>T (p.Ala365Ser) c.979G>T (p.Ala327Ser) | |
1 | g.204155144C>G | CA344332409 | REN | c.1093G>C (p.Ala365Pro) c.979G>C (p.Ala327Pro) | |
1 | g.204155144C>T | CA344332408 | REN | c.1093G>A (p.Ala365Thr) c.979G>A (p.Ala327Thr) | |
1 | g.204155145C>A | CA422833263 | REN | c.1092G>T (p.Leu364=) c.978G>T (p.Leu326=) | |
1 | g.204155145C>G | CA422833266 | REN | c.1092G>C (p.Leu364=) c.978G>C (p.Leu326=) | |
1 | g.204155145C>T | CA422833267 | REN | c.1092G>A (p.Leu364=) c.978G>A (p.Leu326=) | |
1 | g.204155146A= | CA2482055275 | REN | c.1091T= (p.Leu364=) c.977T= (p.Leu326=) | |
1 | g.204155146A>C | CA344332411 | REN | c.1091T>G (p.Leu364Arg) c.977T>G (p.Leu326Arg) | |
1 | g.204155146A>G | CA1344655 | REN | c.1091T>C (p.Leu364Pro) c.977T>C (p.Leu326Pro) | dbSNP ExAC gnomAD v2 |
1 | g.204155146A>T | CA344332412 | REN | c.1091T>A (p.Leu364Gln) c.977T>A (p.Leu326Gln) | |
1 | g.204155147G>A | CA422833272 | REN | c.1090C>T (p.Leu364=) c.976C>T (p.Leu326=) | |
1 | g.204155147G>C | CA344332413 | REN | c.1090C>G (p.Leu364Val) c.976C>G (p.Leu326Val) | |
1 | g.204155147G>T | CA344332414 | REN | c.1090C>A (p.Leu364Met) c.976C>A (p.Leu326Met) | |
1 | g.204155148T>A | CA422833273 | REN | c.1089A>T (p.Thr363=) c.975A>T (p.Thr325=) | |
1 | g.204155148T>C | CA35732313 | REN | c.1089A>G (p.Thr363=) c.975A>G (p.Thr325=) | dbSNP |
1 | g.204155148T>G | CA422833274 | REN | c.1089A>C (p.Thr363=) c.975A>C (p.Thr325=) | |
1 | g.204155148T= | CA2482055277 | REN | c.1089A= (p.Thr363=) c.975A= (p.Thr325=) | |
1 | g.204155149G>A | CA344332415 | REN | c.1088C>T (p.Thr363Ile) c.974C>T (p.Thr325Ile) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.204155149G>C | CA344332416 | REN | c.1088C>G (p.Thr363Arg) c.974C>G (p.Thr325Arg) | |
1 | g.204155149G= | CA2482055282 | REN | c.1088C= (p.Thr363=) c.974C= (p.Thr325=) | |
1 | g.204155149G>T | CA344332417 | REN | c.1088C>A (p.Thr363Lys) c.974C>A (p.Thr325Lys) | |
1 | g.204155150T>A | CA344332418 | REN | c.1087A>T (p.Thr363Ser) c.973A>T (p.Thr325Ser) | |
1 | g.204155150T>C | CA344332419 | REN | c.1087A>G (p.Thr363Ala) c.973A>G (p.Thr325Ala) | |
1 | g.204155150T>G | CA344332420 | REN | c.1087A>C (p.Thr363Pro) c.973A>C (p.Thr325Pro) | |
1 | g.204155151G>A | CA422833281 | REN | c.1086C>T (p.Cys362=) c.972C>T (p.Cys324=) | |
1 | g.204155151G>C | CA344332421 | REN | c.1086C>G (p.Cys362Trp) c.972C>G (p.Cys324Trp) | |
1 | g.204155151G>T | CA344332423 | REN | c.1086C>A (p.Cys362Ter) c.972C>A (p.Cys324Ter) | |
1 | g.204155152C>A | CA344332427 | REN | c.1085G>T (p.Cys362Phe) c.971G>T (p.Cys324Phe) | |
1 | g.204155152C>G | CA344332429 | REN | c.1085G>C (p.Cys362Ser) c.971G>C (p.Cys324Ser) | gnomAD v4 |
1 | g.204155152C>T | CA344332426 | REN | c.1085G>A (p.Cys362Tyr) c.971G>A (p.Cys324Tyr) | ClinVar |
1 | g.204155153A>C | CA344332432 | REN | c.1084T>G (p.Cys362Gly) c.970T>G (p.Cys324Gly) | |
1 | g.204155153A>G | CA344332434 | REN | c.1084T>C (p.Cys362Arg) c.970T>C (p.Cys324Arg) | |
1 | g.204155153A>T | CA344332436 | REN | c.1084T>A (p.Cys362Ser) c.970T>A (p.Cys324Ser) | |
1 | g.204155154C>A | CA422833287 | REN | c.1083G>T (p.Leu361=) c.969G>T (p.Leu323=) | |
1 | g.204155154C>G | CA422833289 | REN | c.1083G>C (p.Leu361=) c.969G>C (p.Leu323=) | |
1 | g.204155154C>T | CA422833290 | REN | c.1083G>A (p.Leu361=) c.969G>A (p.Leu323=) | |
1 | g.204155155A>C | CA344332438 | REN | c.1082T>G (p.Leu361Arg) c.968T>G (p.Leu323Arg) | |
1 | g.204155155A>G | CA344332440 | REN | c.1082T>C (p.Leu361Pro) c.968T>C (p.Leu323Pro) | |
1 | g.204155155A>T | CA344332442 | REN | c.1082T>A (p.Leu361Gln) c.968T>A (p.Leu323Gln) | |
1 | g.204155156G>A | CA422833291 | REN | c.1081C>T (p.Leu361=) c.967C>T (p.Leu323=) | gnomAD v4 |
1 | g.204155156G>C | CA344332444 | REN | c.1081C>G (p.Leu361Val) c.967C>G (p.Leu323Val) | |
1 | g.204155156G>T | CA344332445 | REN | c.1081C>A (p.Leu361Met) c.967C>A (p.Leu323Met) | |
1 | g.204155157C>A | CA344332446 | REN | c.1080G>T (p.Lys360Asn) c.966G>T (p.Lys322Asn) | gnomAD v4 |
1 | g.204155157C>G | CA344332448 | REN | c.1080G>C (p.Lys360Asn) c.966G>C (p.Lys322Asn) | |
1 | g.204155157C>T | CA422833292 | REN | c.1080G>A (p.Lys360=) c.966G>A (p.Lys322=) | |
1 | g.204155158T>A | CA344332450 | REN | c.1079A>T (p.Lys360Met) c.965A>T (p.Lys322Met) | |
1 | g.204155158T>C | CA344332452 | REN | c.1079A>G (p.Lys360Arg) c.965A>G (p.Lys322Arg) | |
1 | g.204155158T>G | CA344332455 | REN | c.1079A>C (p.Lys360Thr) c.965A>C (p.Lys322Thr) | |
1 | g.204155162dup | CA2843184515 | REN | c.1079dup (p.Leu361AlafsTer?) c.965dup (p.Leu323AlafsTer?) | |
1 | g.204155159T>A | CA344332456 | REN | c.1078A>T (p.Lys360Ter) c.964A>T (p.Lys322Ter) | |
1 | g.204155159T>C | CA344332459 | REN | c.1078A>G (p.Lys360Glu) c.964A>G (p.Lys322Glu) | |
1 | g.204155159T>G | CA344332458 | REN | c.1078A>C (p.Lys360Gln) c.964A>C (p.Lys322Gln) | |
1 | g.204155160T>A | CA344332461 | REN | c.1077A>T (p.Lys359Asn) c.963A>T (p.Lys321Asn) | |
1 | g.204155160T>C | CA422833301 | REN | c.1077A>G (p.Lys359=) c.963A>G (p.Lys321=) | |
1 | g.204155160T>G | CA344332463 | REN | c.1077A>C (p.Lys359Asn) c.963A>C (p.Lys321Asn) | |
1 | g.204155161T>A | CA1344656 | REN | c.1076A>T (p.Lys359Ile) c.962A>T (p.Lys321Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204155161T>C | CA1344657 | REN | c.1076A>G (p.Lys359Arg) c.962A>G (p.Lys321Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204155161T>G | CA344332468 | REN | c.1076A>C (p.Lys359Thr) c.962A>C (p.Lys321Thr) | |
1 | g.204155161T= | CA2482055284 | REN | c.1076A= (p.Lys359=) c.962A= (p.Lys321=) | |
1 | g.204155162T>A | CA344332471 | REN | c.1075A>T (p.Lys359Ter) c.961A>T (p.Lys321Ter) | |
1 | g.204155162T>C | CA344332472 | REN | c.1075A>G (p.Lys359Glu) c.961A>G (p.Lys321Glu) | |
1 | g.204155162T>G | CA344332474 | REN | c.1075A>C (p.Lys359Gln) c.961A>C (p.Lys321Gln) | |
1 | g.204155163A>C | CA344332476 | REN | c.1074T>G (p.Ser358Arg) c.960T>G (p.Ser320Arg) | gnomAD v4 |
1 | g.204155163A>G | CA422833308 | REN | c.1074T>C (p.Ser358=) c.960T>C (p.Ser320=) | |
1 | g.204155163A>T | CA344332478 | REN | c.1074T>A (p.Ser358Arg) c.960T>A (p.Ser320Arg) | |
1 | g.204155164C>A | CA1344658 | REN | c.1073G>T (p.Ser358Ile) c.959G>T (p.Ser320Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204155164C= | CA2482055285 | REN | c.1073G= (p.Ser358=) c.959G= (p.Ser320=) | |
1 | g.204155164C>G | CA344332483 | REN | c.1073G>C (p.Ser358Thr) c.959G>C (p.Ser320Thr) | |
1 | g.204155164C>T | CA344332481 | REN | c.1073G>A (p.Ser358Asn) c.959G>A (p.Ser320Asn) | |
1 | g.204155165T>A | CA344332486 | REN | c.1072A>T (p.Ser358Cys) c.958A>T (p.Ser320Cys) | |
1 | g.204155165T>C | CA344332490 | REN | c.1072A>G (p.Ser358Gly) c.958A>G (p.Ser320Gly) | dbSNP |
1 | g.204155165T>G | CA344332488 | REN | c.1072A>C (p.Ser358Arg) c.958A>C (p.Ser320Arg) | |
1 | g.204155165T= | CA2482055286 | REN | c.1072A= (p.Ser358=) c.958A= (p.Ser320=) | |
1 | g.204155166A= | CA2482055287 | REN | c.1071T= (p.Ser357=) c.957T= (p.Ser319=) | |
1 | g.204155166A>C | CA344332492 | REN | c.1071T>G (p.Ser357Arg) c.957T>G (p.Ser319Arg) | |
1 | g.204155166A>G | CA422833315 | REN | c.1071T>C (p.Ser357=) c.957T>C (p.Ser319=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204155166A>T | CA344332494 | REN | c.1071T>A (p.Ser357Arg) c.957T>A (p.Ser319Arg) | |
1 | g.204155167C>A | CA344332496 | REN | c.1070G>T (p.Ser357Ile) c.956G>T (p.Ser319Ile) | COSMIC |
1 | g.204155167C= | CA2482055288 | REN | c.1070G= (p.Ser357=) c.956G= (p.Ser319=) | |
1 | g.204155167C>G | CA344332498 | REN | c.1070G>C (p.Ser357Thr) c.956G>C (p.Ser319Thr) | |
1 | g.204155167C>T | CA344332500 | REN | c.1070G>A (p.Ser357Asn) c.956G>A (p.Ser319Asn) | dbSNP |
1 | g.204155168T>A | CA344332502 | REN | c.1069A>T (p.Ser357Cys) c.955A>T (p.Ser319Cys) | gnomAD v4 |
1 | g.204155168T>C | CA344332504 | REN | c.1069A>G (p.Ser357Gly) c.955A>G (p.Ser319Gly) | |
1 | g.204155168T>G | CA344332506 | REN | c.1069A>C (p.Ser357Arg) c.955A>C (p.Ser319Arg) | |
1 | g.204155169G>A | CA1344659 | REN | c.1068C>T (p.Tyr356=) c.954C>T (p.Tyr318=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204155169G>C | CA344332509 | REN | c.1068C>G (p.Tyr356Ter) c.954C>G (p.Tyr318Ter) | |
1 | g.204155169G= | CA2482055289 | REN | c.1068C= (p.Tyr356=) c.954C= (p.Tyr318=) | |
1 | g.204155169G>T | CA344332512 | REN | c.1068C>A (p.Tyr356Ter) c.954C>A (p.Tyr318Ter) | |
1 | g.204155170T>A | CA344332514 | REN | c.1067A>T (p.Tyr356Phe) c.953A>T (p.Tyr318Phe) | |
1 | g.204155170T>C | CA344332516 | REN | c.1067A>G (p.Tyr356Cys) c.953A>G (p.Tyr318Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204155170T>G | CA344332518 | REN | c.1067A>C (p.Tyr356Ser) c.953A>C (p.Tyr318Ser) | |
1 | g.204155170T= | CA2482055290 | REN | c.1067A= (p.Tyr356=) c.953A= (p.Tyr318=) | |
1 | g.204155171A>C | CA344332525 | REN | c.1066T>G (p.Tyr356Asp) c.952T>G (p.Tyr318Asp) | |
1 | g.204155171A>G | CA344332521 | REN | c.1066T>C (p.Tyr356His) c.952T>C (p.Tyr318His) | |
1 | g.204155171A>T | CA344332523 | REN | c.1066T>A (p.Tyr356Asn) c.952T>A (p.Tyr318Asn) | |
1 | g.204155172G>A | CA422833326 | REN | c.1065C>T (p.Ser355=) c.951C>T (p.Ser317=) | |
1 | g.204155172G>C | CA422833327 | REN | c.1065C>G (p.Ser355=) c.951C>G (p.Ser317=) | gnomAD v4 |
1 | g.204155172G>T | CA422833328 | REN | c.1065C>A (p.Ser355=) c.951C>A (p.Ser317=) | gnomAD v4 |
1 | g.204155173G>A | CA344332526 | REN | c.1064C>T (p.Ser355Phe) c.950C>T (p.Ser317Phe) | |
1 | g.204155173G>C | CA344332529 | REN | c.1064C>G (p.Ser355Cys) c.950C>G (p.Ser317Cys) | |
1 | g.204155173G>T | CA344332531 | REN | c.1064C>A (p.Ser355Tyr) c.950C>A (p.Ser317Tyr) | |
1 | g.204155174A>C | CA344332533 | REN | c.1063T>G (p.Ser355Ala) c.949T>G (p.Ser317Ala) | |
1 | g.204155174A>G | CA344332535 | REN | c.1063T>C (p.Ser355Pro) c.949T>C (p.Ser317Pro) | |
1 | g.204155174A>T | CA344332536 | REN | c.1063T>A (p.Ser355Thr) c.949T>A (p.Ser317Thr) | |
1 | g.204155175T>A | CA344332538 | REN | c.1062A>T (p.Glu354Asp) c.948A>T (p.Glu316Asp) | gnomAD v4 |
1 | g.204155175T>C | CA422833335 | REN | c.1062A>G (p.Glu354=) c.948A>G (p.Glu316=) | gnomAD v4 |
1 | g.204155175T>G | CA344332540 | REN | c.1062A>C (p.Glu354Asp) c.948A>C (p.Glu316Asp) | |
1 | g.204155176T>A | CA344332542 | REN | c.1061A>T (p.Glu354Val) c.947A>T (p.Glu316Val) | |
1 | g.204155176T>C | CA35732326 | REN | c.1061A>G (p.Glu354Gly) c.947A>G (p.Glu316Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204155176T>G | CA344332544 | REN | c.1061A>C (p.Glu354Ala) c.947A>C (p.Glu316Ala) | |
1 | g.204155176T= | CA1142102613 | REN | c.1061A= (p.Glu354=) c.947A= (p.Glu316=) | |
1 | g.204155177C>A | CA344332551 | REN | c.1060G>T (p.Glu354Ter) c.946G>T (p.Glu316Ter) | |
1 | g.204155177C>G | CA344332549 | REN | c.1060G>C (p.Glu354Gln) c.946G>C (p.Glu316Gln) | |
1 | g.204155177C>T | CA344332547 | REN | c.1060G>A (p.Glu354Lys) c.946G>A (p.Glu316Lys) | |
1 | g.204155178C>A | CA344332553 | REN | c.1060-1G>T (n.1060-1G>T) c.946-1G>T (n.946-1G>T) | |
1 | g.204155178C>G | CA344332555 | REN | c.1060-1G>C (n.1060-1G>C) c.946-1G>C (n.946-1G>C) | |
1 | g.204155178C>T | CA344332557 | REN | c.1060-1G>A (n.1060-1G>A) c.946-1G>A (n.946-1G>A) | |
1 | g.204155179T>A | CA344332560 | REN | c.1060-2A>T (n.1060-2A>T) c.946-2A>T (n.946-2A>T) | |
1 | g.204155179T>C | CA344332561 | REN | c.1060-2A>G (n.1060-2A>G) c.946-2A>G (n.946-2A>G) | dbSNP |
1 | g.204155179T>G | CA344332562 | REN | c.1060-2A>C (n.1060-2A>C) c.946-2A>C (n.946-2A>C) | |
1 | g.204155179T= | CA2482055291 | REN | c.1060-2A= (n.1060-2A=) c.946-2A= (n.946-2A=) | |
1 | g.204155180G>A | CA2650012343 | REN | c.1060-3C>T (n.1060-3C>T) c.946-3C>T (n.946-3C>T) | gnomAD v4 |
1 | g.204155181G>T | CA2843184516 | REN | c.1060-4C>A (n.1060-4C>A) c.946-4C>A (n.946-4C>A) | |
1 | g.204155182C>A | CA2650012344 | REN | c.1060-5G>T (n.1060-5G>T) c.946-5G>T (n.946-5G>T) | gnomAD v4 |
1 | g.204155183_204155184delinsAG | CA2482055292 | REN | c.1060-7_1060-6delinsCT (n.1060-7_1060-6delinsCT) c.946-7_946-6delinsCT (n.946-7_946-6delinsCT) | |
1 | g.204155185del | CA2482055293 | REN | c.1060-7del (n.1060-7del) c.946-7del (n.946-7del) | dbSNP |
1 | g.204155185G>A | CA528532068 | REN | c.1060-8C>T (n.1060-8C>T) c.946-8C>T (n.946-8C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204155185G= | CA2482055294 | REN | c.1060-8C= (n.1060-8C=) c.946-8C= (n.946-8C=) | |
1 | g.204155185G>T | CA1344660 | REN | c.1060-8C>A (n.1060-8C>A) c.946-8C>A (n.946-8C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204155187_204155188delinsAG | CA2482055295 | REN | c.1060-11_1060-10delinsCT (n.1060-11_1060-10delinsCT) c.946-11_946-10delinsCT (n.946-11_946-10delinsCT) | |
1 | g.204155188G>A | CA1344663 | REN | c.1060-11C>T (n.1060-11C>T) c.946-11C>T (n.946-11C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204155188G>C | CA1344662 | REN | c.1060-11C>G (n.1060-11C>G) c.946-11C>G (n.946-11C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204155188G= | CA2482055296 | REN | c.1060-11C= (n.1060-11C=) c.946-11C= (n.946-11C=) | |
1 | g.204155188G>T | CA2573986879 | REN | c.1060-11C>A (n.1060-11C>A) c.946-11C>A (n.946-11C>A) | |
1 | g.204155192dup | CA2832534027 | REN | c.1060-11dup (n.1060-11dup) c.946-11dup (n.946-11dup) | |
1 | g.204155192del | CA1344661 | REN | c.1060-11del (n.1060-11del) c.946-11del (n.946-11del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.204155189G>A | CA2650012346 | REN | c.1060-12C>T (n.1060-12C>T) c.946-12C>T (n.946-12C>T) | gnomAD v4 |
1 | g.204155189G>C | CA35732331 | REN | c.1060-12C>G (n.1060-12C>G) c.946-12C>G (n.946-12C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.204155189G= | CA2482055297 | REN | c.1060-12C= (n.1060-12C=) c.946-12C= (n.946-12C=) | |
1 | g.204155189G>T | CA528532069 | REN | c.1060-12C>A (n.1060-12C>A) c.946-12C>A (n.946-12C>A) | dbSNP gnomAD v2 |
1 | g.204155192G>A | CA2650012351 | REN | c.1060-15C>T (n.1060-15C>T) c.946-15C>T (n.946-15C>T) | gnomAD v4 |
1 | g.204155192G>C | CA2747425807 | REN | c.1060-15C>G (n.1060-15C>G) c.946-15C>G (n.946-15C>G) | |
1 | g.204155195A= | CA2482055298 | REN | c.1060-18T= (n.1060-18T=) c.946-18T= (n.946-18T=) | |
1 | g.204155195A>G | CA1344664 | REN | c.1060-18T>C (n.1060-18T>C) c.946-18T>C (n.946-18T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |