Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.53973766_53973777dup | CA689961572 | HOTAIR,HOXC11 | c.525_536dup (p.Gly179_Glu180insGluAlaLysGly) n.59+1127_59+1138dup | dbSNP gnomAD v3 gnomAD v4 |
12 | g.53973766C>A | CA479965375 | HOTAIR,HOXC11 | c.525C>A (p.Gly175=) n.59+1132G>T | |
12 | g.53973766C= | CA2037241172 | HOTAIR,HOXC11 | c.525C= (p.Gly175=) n.59+1132G= | |
12 | g.53973766C>G | CA479965376 | HOTAIR,HOXC11 | c.525C>G (p.Gly175=) n.59+1132G>C | |
12 | g.53973766C>T | CA479965377 | HOTAIR,HOXC11 | c.525C>T (p.Gly175=) n.59+1132G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.53973772_53973789del | CA2619096522 | HOTAIR,HOXC11 | c.531_548del (p.Lys178_Ala183del) n.59+1115_59+1132del | gnomAD v4 |
12 | g.53973767G>A | CA6604262 | HOTAIR,HOXC11 | c.526G>A (p.Glu176Lys) n.59+1131C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.53973767G>C | CA385105306 | HOTAIR,HOXC11 | c.526G>C (p.Glu176Gln) n.59+1131C>G | |
12 | g.53973767G= | CA2037241177 | HOTAIR,HOXC11 | c.526G= (p.Glu176=) n.59+1131C= | |
12 | g.53973767G>T | CA385105314 | HOTAIR,HOXC11 | c.526G>T (p.Glu176Ter) n.59+1131C>A | gnomAD v4 |
12 | g.53973768A>C | CA385105322 | HOTAIR,HOXC11 | c.527A>C (p.Glu176Ala) n.59+1130T>G | |
12 | g.53973768A>G | CA385105320 | HOTAIR,HOXC11 | c.527A>G (p.Glu176Gly) n.59+1130T>C | |
12 | g.53973768A>T | CA385105318 | HOTAIR,HOXC11 | c.527A>T (p.Glu176Val) n.59+1130T>A | |
12 | g.53973769G>A | CA479965378 | HOTAIR,HOXC11 | c.528G>A (p.Glu176=) n.59+1129C>T | |
12 | g.53973769G>C | CA385105328 | HOTAIR,HOXC11 | c.528G>C (p.Glu176Asp) n.59+1129C>G | |
12 | g.53973769G= | CA2037241182 | HOTAIR,HOXC11 | c.528G= (p.Glu176=) n.59+1129C= | |
12 | g.53973769G>T | CA385105326 | HOTAIR,HOXC11 | c.528G>T (p.Glu176Asp) n.59+1129C>A | |
12 | g.53973769_53973770insT | CA385105331 | HOTAIR,HOXC11 | c.528_529insT (p.Ala177CysfsTer18) n.59+1128_59+1129insA | dbSNP |
12 | g.53973770G>A | CA385105332 | HOTAIR,HOXC11 | c.529G>A (p.Ala177Thr) n.59+1128C>T | |
12 | g.53973770G>C | CA385105334 | HOTAIR,HOXC11 | c.529G>C (p.Ala177Pro) n.59+1128C>G | |
12 | g.53973770G>T | CA385105336 | HOTAIR,HOXC11 | c.529G>T (p.Ala177Ser) n.59+1128C>A | |
12 | g.53973771C>A | CA385105339 | HOTAIR,HOXC11 | c.530C>A (p.Ala177Asp) n.59+1127G>T | |
12 | g.53973771C= | CA2037241186 | HOTAIR,HOXC11 | c.530C= (p.Ala177=) n.59+1127G= | |
12 | g.53973771C>G | CA385105341 | HOTAIR,HOXC11 | c.530C>G (p.Ala177Gly) n.59+1127G>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.53973771C>T | CA385105343 | HOTAIR,HOXC11 | c.530C>T (p.Ala177Val) n.59+1127G>A | |
12 | g.53973772C>A | CA479965380 | HOTAIR,HOXC11 | c.531C>A (p.Ala177=) n.59+1126G>T | |
12 | g.53973772C>G | CA479965381 | HOTAIR,HOXC11 | c.531C>G (p.Ala177=) n.59+1126G>C | |
12 | g.53973772C>T | CA479965379 | HOTAIR,HOXC11 | c.531C>T (p.Ala177=) n.59+1126G>A | |
12 | g.53973773A= | CA2037241188 | HOTAIR,HOXC11 | c.532A= (p.Lys178=) n.59+1125T= | |
12 | g.53973773A>C | CA385105347 | HOTAIR,HOXC11 | c.532A>C (p.Lys178Gln) n.59+1125T>G | |
12 | g.53973773A>G | CA6604263 | HOTAIR,HOXC11 | c.532A>G (p.Lys178Glu) n.59+1125T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.53973773A>T | CA385105351 | HOTAIR,HOXC11 | c.532A>T (p.Lys178Ter) n.59+1125T>A | gnomAD v4 |
12 | g.53973774A= | CA2037241192 | HOTAIR,HOXC11 | c.533A= (p.Lys178=) n.59+1124T= | |
12 | g.53973774A>C | CA385105354 | HOTAIR,HOXC11 | c.533A>C (p.Lys178Thr) n.59+1124T>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.53973774A>G | CA385105357 | HOTAIR,HOXC11 | c.533A>G (p.Lys178Arg) n.59+1124T>C | |
12 | g.53973774A>T | CA385105358 | HOTAIR,HOXC11 | c.533A>T (p.Lys178Met) n.59+1124T>A | |
12 | g.53973775G>A | CA479965382 | HOTAIR,HOXC11 | c.534G>A (p.Lys178=) n.59+1123C>T | |
12 | g.53973775G>C | CA385105364 | HOTAIR,HOXC11 | c.534G>C (p.Lys178Asn) n.59+1123C>G | |
12 | g.53973775G>T | CA385105367 | HOTAIR,HOXC11 | c.534G>T (p.Lys178Asn) n.59+1123C>A | |
12 | g.53973779dup | CA2619096536 | HOTAIR,HOXC11 | c.538dup (p.Glu180GlyfsTer15) n.59+1123dup | gnomAD v4 |
12 | g.53973776G>A | CA385105370 | HOTAIR,HOXC11 | c.535G>A (p.Gly179Arg) n.59+1122C>T | |
12 | g.53973776G>C | CA385105372 | HOTAIR,HOXC11 | c.535G>C (p.Gly179Arg) n.59+1122C>G | |
12 | g.53973776G>T | CA385105373 | HOTAIR,HOXC11 | c.535G>T (p.Gly179Trp) n.59+1122C>A | |
12 | g.53973777G>A | CA385105376 | HOTAIR,HOXC11 | c.536G>A (p.Gly179Glu) n.59+1121C>T | gnomAD v4 |
12 | g.53973777G>C | CA385105379 | HOTAIR,HOXC11 | c.536G>C (p.Gly179Ala) n.59+1121C>G | |
12 | g.53973777G>T | CA385105381 | HOTAIR,HOXC11 | c.536G>T (p.Gly179Val) n.59+1121C>A | |
12 | g.53973778G>A | CA6604264 | HOTAIR,HOXC11 | c.537G>A (p.Gly179=) n.59+1120C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973778G>C | CA479965383 | HOTAIR,HOXC11 | c.537G>C (p.Gly179=) n.59+1120C>G | |
12 | g.53973778G= | CA2037241194 | HOTAIR,HOXC11 | c.537G= (p.Gly179=) n.59+1120C= | |
12 | g.53973778G>T | CA479965384 | HOTAIR,HOXC11 | c.537G>T (p.Gly179=) n.59+1120C>A | COSMIC |
12 | g.53973779G>A | CA385105387 | HOTAIR,HOXC11 | c.538G>A (p.Glu180Lys) n.59+1119C>T | |
12 | g.53973779G>C | CA385105389 | HOTAIR,HOXC11 | c.538G>C (p.Glu180Gln) n.59+1119C>G | gnomAD v4 |
12 | g.53973779G>T | CA385105391 | HOTAIR,HOXC11 | c.538G>T (p.Glu180Ter) n.59+1119C>A | COSMIC |
12 | g.53973780A>C | CA385105394 | HOTAIR,HOXC11 | c.539A>C (p.Glu180Ala) n.59+1118T>G | |
12 | g.53973780A>G | CA385105395 | HOTAIR,HOXC11 | c.539A>G (p.Glu180Gly) n.59+1118T>C | |
12 | g.53973780A>T | CA385105400 | HOTAIR,HOXC11 | c.539A>T (p.Glu180Val) n.59+1118T>A | |
12 | g.53973780_53973808delinsAGCCCGAGGCACCCCCGGCCTCGGGACTG | CA2037241196 | HOTAIR,HOXC11 | c.539_567delinsAGCCCGAGGCACCCCCGGCCTCGGGACTG (p.Glu180=) n.59+1090_59+1118delinsCAGTCCCGAGGCCGGGGGTGCCTCGGGCT | |
12 | g.53973781G>A | CA237398023 | HOTAIR,HOXC11 | c.540G>A (p.Glu180=) n.59+1117C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.53973781G>C | CA385105402 | HOTAIR,HOXC11 | c.540G>C (p.Glu180Asp) n.59+1117C>G | |
12 | g.53973781G= | CA2037241201 | HOTAIR,HOXC11 | c.540G= (p.Glu180=) n.59+1117C= | |
12 | g.53973781G>T | CA385105404 | HOTAIR,HOXC11 | c.540G>T (p.Glu180Asp) n.59+1117C>A | |
12 | g.53973783_53973810del | CA6604265 | HOTAIR,HOXC11 | c.542_569del (p.Pro181ArgfsTer?) n.59+1090_59+1117del | dbSNP ExAC |
12 | g.53973782C>A | CA385105407 | HOTAIR,HOXC11 | c.541C>A (p.Pro181Thr) n.59+1116G>T | |
12 | g.53973782C= | CA2037241205 | HOTAIR,HOXC11 | c.541C= (p.Pro181=) n.59+1116G= | |
12 | g.53973782C>G | CA385105408 | HOTAIR,HOXC11 | c.541C>G (p.Pro181Ala) n.59+1116G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973782C>T | CA6604266 | HOTAIR,HOXC11 | c.541C>T (p.Pro181Ser) n.59+1116G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973783C>A | CA385105411 | HOTAIR,HOXC11 | c.542C>A (p.Pro181His) n.59+1115G>T | |
12 | g.53973783C>G | CA385105412 | HOTAIR,HOXC11 | c.542C>G (p.Pro181Arg) n.59+1115G>C | |
12 | g.53973783C>T | CA385105415 | HOTAIR,HOXC11 | c.542C>T (p.Pro181Leu) n.59+1115G>A | gnomAD v4 |
12 | g.53973784C>A | CA479965385 | HOTAIR,HOXC11 | c.543C>A (p.Pro181=) n.59+1114G>T | gnomAD v4 |
12 | g.53973784C= | CA2037241208 | HOTAIR,HOXC11 | c.543C= (p.Pro181=) n.59+1114G= | |
12 | g.53973784C>G | CA479965386 | HOTAIR,HOXC11 | c.543C>G (p.Pro181=) n.59+1114G>C | gnomAD v4 |
12 | g.53973784C>T | CA6604267 | HOTAIR,HOXC11 | c.543C>T (p.Pro181=) n.59+1114G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973785G>A | CA385105421 | HOTAIR,HOXC11 | c.544G>A (p.Glu182Lys) n.59+1113C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973785G>C | CA385105423 | HOTAIR,HOXC11 | c.544G>C (p.Glu182Gln) n.59+1113C>G | |
12 | g.53973785G= | CA2037241211 | HOTAIR,HOXC11 | c.544G= (p.Glu182=) n.59+1113C= | |
12 | g.53973785G>T | CA385105426 | HOTAIR,HOXC11 | c.544G>T (p.Glu182Ter) n.59+1113C>A | |
12 | g.53973786A= | CA2037241214 | HOTAIR,HOXC11 | c.545A= (p.Glu182=) n.59+1112T= | |
12 | g.53973786A>C | CA385105427 | HOTAIR,HOXC11 | c.545A>C (p.Glu182Ala) n.59+1112T>G | gnomAD v4 |
12 | g.53973786A>G | CA385105428 | HOTAIR,HOXC11 | c.545A>G (p.Glu182Gly) n.59+1112T>C | |
12 | g.53973786A>T | CA385105429 | HOTAIR,HOXC11 | c.545A>T (p.Glu182Val) n.59+1112T>A | dbSNP |
12 | g.53973787G>A | CA479965387 | HOTAIR,HOXC11 | c.546G>A (p.Glu182=) n.59+1111C>T | |
12 | g.53973787G>C | CA385105430 | HOTAIR,HOXC11 | c.546G>C (p.Glu182Asp) n.59+1111C>G | |
12 | g.53973787G>T | CA385105431 | HOTAIR,HOXC11 | c.546G>T (p.Glu182Asp) n.59+1111C>A | |
12 | g.53973788G>A | CA385105433 | HOTAIR,HOXC11 | c.547G>A (p.Ala183Thr) n.59+1110C>T | gnomAD v4 |
12 | g.53973788G>C | CA385105436 | HOTAIR,HOXC11 | c.547G>C (p.Ala183Pro) n.59+1110C>G | |
12 | g.53973788G>T | CA385105435 | HOTAIR,HOXC11 | c.547G>T (p.Ala183Ser) n.59+1110C>A | |
12 | g.53973789C>A | CA385105439 | HOTAIR,HOXC11 | c.548C>A (p.Ala183Glu) n.59+1109G>T | |
12 | g.53973789C>G | CA385105440 | HOTAIR,HOXC11 | c.548C>G (p.Ala183Gly) n.59+1109G>C | |
12 | g.53973789C>T | CA385105441 | HOTAIR,HOXC11 | c.548C>T (p.Ala183Val) n.59+1109G>A | |
12 | g.53973790A= | CA2037241218 | HOTAIR,HOXC11 | c.549A= (p.Ala183=) n.59+1108T= | |
12 | g.53973790A>C | CA479965388 | HOTAIR,HOXC11 | c.549A>C (p.Ala183=) n.59+1108T>G | dbSNP |
12 | g.53973790A>G | CA479965389 | HOTAIR,HOXC11 | c.549A>G (p.Ala183=) n.59+1108T>C | |
12 | g.53973790A>T | CA479965390 | HOTAIR,HOXC11 | c.549A>T (p.Ala183=) n.59+1108T>A | dbSNP |
12 | g.53973791C>A | CA385105442 | HOTAIR,HOXC11 | c.550C>A (p.Pro184Thr) n.59+1107G>T | gnomAD v4 |
12 | g.53973791C= | CA2037241221 | HOTAIR,HOXC11 | c.550C= (p.Pro184=) n.59+1107G= | |
12 | g.53973791C>G | CA385105444 | HOTAIR,HOXC11 | c.550C>G (p.Pro184Ala) n.59+1107G>C | gnomAD v4 |
12 | g.53973791C>T | CA6604268 | HOTAIR,HOXC11 | c.550C>T (p.Pro184Ser) n.59+1107G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973795dup | CA2619096564 | HOTAIR,HOXC11 | c.554dup (p.Ala186GlyfsTer9) n.59+1107dup | gnomAD v4 |
12 | g.53973792C>A | CA385105449 | HOTAIR,HOXC11 | c.551C>A (p.Pro184His) n.59+1106G>T | |
12 | g.53973792C>G | CA385105451 | HOTAIR,HOXC11 | c.551C>G (p.Pro184Arg) n.59+1106G>C | |
12 | g.53973792C>T | CA385105453 | HOTAIR,HOXC11 | c.551C>T (p.Pro184Leu) n.59+1106G>A | COSMIC |
12 | g.53973793C>A | CA479965392 | HOTAIR,HOXC11 | c.552C>A (p.Pro184=) n.59+1105G>T | |
12 | g.53973793C>G | CA479965393 | HOTAIR,HOXC11 | c.552C>G (p.Pro184=) n.59+1105G>C | |
12 | g.53973793C>T | CA479965391 | HOTAIR,HOXC11 | c.552C>T (p.Pro184=) n.59+1105G>A | gnomAD v4 |
12 | g.53973794C>A | CA385105457 | HOTAIR,HOXC11 | c.553C>A (p.Pro185Thr) n.59+1104G>T | |
12 | g.53973794C>G | CA385105461 | HOTAIR,HOXC11 | c.553C>G (p.Pro185Ala) n.59+1104G>C | |
12 | g.53973794C>T | CA385105455 | HOTAIR,HOXC11 | c.553C>T (p.Pro185Ser) n.59+1104G>A | |
12 | g.53973795C>A | CA385105464 | HOTAIR,HOXC11 | c.554C>A (p.Pro185Gln) n.59+1103G>T | dbSNP gnomAD v4 |
12 | g.53973795C= | CA2037241223 | HOTAIR,HOXC11 | c.554C= (p.Pro185=) n.59+1103G= | |
12 | g.53973795C>G | CA385105466 | HOTAIR,HOXC11 | c.554C>G (p.Pro185Arg) n.59+1103G>C | gnomAD v4 |
12 | g.53973795C>T | CA6604269 | HOTAIR,HOXC11 | c.554C>T (p.Pro185Leu) n.59+1103G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973795_53973816delinsCGGCCTCGGGACTGGCGTCCCG | CA2037241225 | HOTAIR,HOXC11 | c.554_575delinsCGGCCTCGGGACTGGCGTCCCG (p.Pro185=) n.59+1082_59+1103delinsCGGGACGCCAGTCCCGAGGCCG | |
12 | g.53973795_53973796insTT | CA2575177060 | HOTAIR,HOXC11 | c.554_555insTT (p.Ala186TrpfsTer?) n.59+1102_59+1103insAA | gnomAD v4 |
12 | g.53973796G>A | CA479965394 | HOTAIR,HOXC11 | c.555G>A (p.Pro185=) n.59+1102C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.53973796G>C | CA479965395 | HOTAIR,HOXC11 | c.555G>C (p.Pro185=) n.59+1102C>G | gnomAD v4 |
12 | g.53973796G= | CA2037241229 | HOTAIR,HOXC11 | c.555G= (p.Pro185=) n.59+1102C= | |
12 | g.53973796G>T | CA479965396 | HOTAIR,HOXC11 | c.555G>T (p.Pro185=) n.59+1102C>A | |
12 | g.53973799_53973819del | CA919091698 | HOTAIR,HOXC11 | c.558_578del (p.Ser187_Ala193del) n.59+1082_59+1102del | dbSNP |
12 | g.53973797G>A | CA385105471 | HOTAIR,HOXC11 | c.556G>A (p.Ala186Thr) n.59+1101C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973797G>C | CA385105474 | HOTAIR,HOXC11 | c.556G>C (p.Ala186Pro) n.59+1101C>G | |
12 | g.53973797G= | CA2037241231 | HOTAIR,HOXC11 | c.556G= (p.Ala186=) n.59+1101C= | |
12 | g.53973797G>T | CA385105475 | HOTAIR,HOXC11 | c.556G>T (p.Ala186Ser) n.59+1101C>A | |
12 | g.53973798C>A | CA385105479 | HOTAIR,HOXC11 | c.557C>A (p.Ala186Asp) n.59+1100G>T | |
12 | g.53973798C>G | CA385105483 | HOTAIR,HOXC11 | c.557C>G (p.Ala186Gly) n.59+1100G>C | |
12 | g.53973798C>T | CA385105486 | HOTAIR,HOXC11 | c.557C>T (p.Ala186Val) n.59+1100G>A | |
12 | g.53973799C>A | CA479965397 | HOTAIR,HOXC11 | c.558C>A (p.Ala186=) n.59+1099G>T | |
12 | g.53973799C>G | CA479965398 | HOTAIR,HOXC11 | c.558C>G (p.Ala186=) n.59+1099G>C | |
12 | g.53973799C>T | CA479965399 | HOTAIR,HOXC11 | c.558C>T (p.Ala186=) n.59+1099G>A | |
12 | g.53973800_53973801del | CA1139770127 | HOTAIR,HOXC11 | c.559_560del (p.Ser187GlyfsTer7) n.59+1098_59+1099del | |
12 | g.53973800T>A | CA385105490 | HOTAIR,HOXC11 | c.559T>A (p.Ser187Thr) n.59+1098A>T | gnomAD v4 |
12 | g.53973800T>C | CA385105493 | HOTAIR,HOXC11 | c.559T>C (p.Ser187Pro) n.59+1098A>G | |
12 | g.53973800T>G | CA385105495 | HOTAIR,HOXC11 | c.559T>G (p.Ser187Ala) n.59+1098A>C | gnomAD v4 |
12 | g.53973800_53973801insGGGGGGGGGG | CA2619096603 | HOTAIR,HOXC11 | c.559_560insGGGGGGGGGG (p.Ser187TrpfsTer11) n.59+1097_59+1098insCCCCCCCCCC | gnomAD v4 |
12 | g.53973800_53973801insGGGGGGGGGGGGGG | CA2619096602 | HOTAIR,HOXC11 | c.559_560insGGGGGGGGGGGGGG (p.Ser187TrpfsTer?) n.59+1097_59+1098insCCCCCCCCCCCCCC | gnomAD v4 |
12 | g.53973800_53973801insGGGGGGGGGGGGGGGGGGGG | CA2619096601 | HOTAIR,HOXC11 | c.559_560insGGGGGGGGGGGGGGGGGGGG (p.Ser187TrpfsTer?) n.59+1097_59+1098insCCCCCCCCCCCCCCCCCCCC | gnomAD v4 |
12 | g.53973800_53973801insGGGGGGGGGGGGGGGGGGGGG | CA2619096600 | HOTAIR,HOXC11 | c.559_560insGGGGGGGGGGGGGGGGGGGGG (p.Ser187delinsTrpGlyGlyGlyGlyGlyGlyAla) n.59+1097_59+1098insCCCCCCCCCCCCCCCCCCCCC | gnomAD v4 |
12 | g.53973800_53973801insGGGGGGGGGGGGGGGGGGGGGGG | CA2619096599 | HOTAIR,HOXC11 | c.559_560insGGGGGGGGGGGGGGGGGGGGGGG (p.Ser187TrpfsTer?) n.59+1097_59+1098insCCCCCCCCCCCCCCCCCCCCCCC | gnomAD v4 |
12 | g.53973800_53973801insGGGGGGGGGGGGGGGGGGGGGGGGG | CA2619096598 | HOTAIR,HOXC11 | c.559_560insGGGGGGGGGGGGGGGGGGGGGGGGG (p.Ser187TrpfsTer16) n.59+1097_59+1098insCCCCCCCCCCCCCCCCCCCCCCCCC | gnomAD v4 |
12 | g.53973800_53973801insGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2619096594 | HOTAIR,HOXC11 | c.559_560insGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Ser187TrpfsTer?) n.59+1097_59+1098insCCCCCCCCCCCCCCCCCCCCCCCCCC | gnomAD v4 |
12 | g.53973800_53973801insGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2619096596 | HOTAIR,HOXC11 | c.559_560insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Ser187TrpfsTer17) n.59+1097_59+1098insCCCCCCCCCCCCCCCCCCCCCCCCCCCC | gnomAD v4 |
12 | g.53973800_53973801insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA1139770129 | HOTAIR,HOXC11 | c.559_560insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Ser187TrpfsTer?) n.59+1097_59+1098insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | |
12 | g.53973800_53973801insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2497028806 | HOTAIR,HOXC11 | c.559_560insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Ser187delinsTrpGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyAla) n.59+1097_59+1098insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | |
12 | g.53973801del | CA1139770128 | HOTAIR,HOXC11 | c.560del (p.Ser187TrpfsTer?) n.59+1097del | gnomAD v4 |
12 | g.53973801C>A | CA385105501 | HOTAIR,HOXC11 | c.560C>A (p.Ser187Ter) n.59+1097G>T | |
12 | g.53973801C= | CA2037241232 | HOTAIR,HOXC11 | c.560C= (p.Ser187=) n.59+1097G= | |
12 | g.53973801C>G | CA385105503 | HOTAIR,HOXC11 | c.560C>G (p.Ser187Trp) n.59+1097G>C | dbSNP gnomAD v4 |
12 | g.53973801C>T | CA237398053 | HOTAIR,HOXC11 | c.560C>T (p.Ser187Leu) n.59+1097G>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.53973801_53973802insAGGGGGGGGGGGGGGG | CA1139770130 | HOTAIR,HOXC11 | c.560_561insAGGGGGGGGGGGGGGG (p.Leu189GlyfsTer11) n.59+1096_59+1097insCCCCCCCCCCCCCCCT | |
12 | g.53973802G>A | CA479965400 | HOTAIR,HOXC11 | c.561G>A (p.Ser187=) n.59+1096C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.53973802G>C | CA479965401 | HOTAIR,HOXC11 | c.561G>C (p.Ser187=) n.59+1096C>G | |
12 | g.53973802G= | CA2037241235 | HOTAIR,HOXC11 | c.561G= (p.Ser187=) n.59+1096C= | |
12 | g.53973802G>T | CA479965402 | HOTAIR,HOXC11 | c.561G>T (p.Ser187=) n.59+1096C>A | gnomAD v4 |
12 | g.53973802_53973804dup | CA1139770303 | HOTAIR,HOXC11 | c.561_563dup (p.Gly188_Leu189insGly) n.59+1094_59+1096dup | |
12 | g.53973803G>A | CA385105506 | HOTAIR,HOXC11 | c.562G>A (p.Gly188Arg) n.59+1095C>T | |
12 | g.53973803G>C | CA385105508 | HOTAIR,HOXC11 | c.562G>C (p.Gly188Arg) n.59+1095C>G | |
12 | g.53973803G>T | CA385105510 | HOTAIR,HOXC11 | c.562G>T (p.Gly188Ter) n.59+1095C>A | |
12 | g.53973804G>A | CA385105514 | HOTAIR,HOXC11 | c.563G>A (p.Gly188Glu) n.59+1094C>T | |
12 | g.53973804G>C | CA385105515 | HOTAIR,HOXC11 | c.563G>C (p.Gly188Ala) n.59+1094C>G | |
12 | g.53973804G= | CA2037241237 | HOTAIR,HOXC11 | c.563G= (p.Gly188=) n.59+1094C= | |
12 | g.53973804G>T | CA385105517 | HOTAIR,HOXC11 | c.563G>T (p.Gly188Val) n.59+1094C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973805A>C | CA479965403 | HOTAIR,HOXC11 | c.564A>C (p.Gly188=) n.59+1093T>G | gnomAD v3 gnomAD v4 |
12 | g.53973805A>G | CA479965404 | HOTAIR,HOXC11 | c.564A>G (p.Gly188=) n.59+1093T>C | gnomAD v4 |
12 | g.53973805A>T | CA479965405 | HOTAIR,HOXC11 | c.564A>T (p.Gly188=) n.59+1093T>A | |
12 | g.53973805_53973807del | CA1139655184 | HOTAIR,HOXC11 | c.564_566del (p.Leu189del) n.59+1091_59+1093del | gnomAD v4 |
12 | g.53973805_53973815del | CA2796041907 | HOTAIR,HOXC11 | c.564_574del (p.Leu189GlyfsTer2) n.59+1083_59+1093del | |
12 | g.53973806C>A | CA385105520 | HOTAIR,HOXC11 | c.565C>A (p.Leu189Met) n.59+1092G>T | |
12 | g.53973806C>G | CA385105521 | HOTAIR,HOXC11 | c.565C>G (p.Leu189Val) n.59+1092G>C | |
12 | g.53973806C>T | CA479965406 | HOTAIR,HOXC11 | c.565C>T (p.Leu189=) n.59+1092G>A | |
12 | g.53973806_53973825del | CA2619096609 | HOTAIR,HOXC11 | c.565_584del (p.Leu189GlyfsTer7) n.59+1073_59+1092del | gnomAD v4 |
12 | g.53973806_53973807insG | CA2619096613 | HOTAIR,HOXC11 | c.565_566insG (p.Leu189ArgfsTer6) n.59+1091_59+1092insC | gnomAD v4 |
12 | g.53973807T>A | CA385105526 | HOTAIR,HOXC11 | c.566T>A (p.Leu189Gln) n.59+1091A>T | gnomAD v3 gnomAD v4 |
12 | g.53973807T>C | CA6604270 | HOTAIR,HOXC11 | c.566T>C (p.Leu189Pro) n.59+1091A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.53973807T>G | CA385105528 | HOTAIR,HOXC11 | c.566T>G (p.Leu189Arg) n.59+1091A>C | gnomAD v4 |
12 | g.53973807T= | CA2037241239 | HOTAIR,HOXC11 | c.566T= (p.Leu189=) n.59+1091A= | |
12 | g.53973808G>A | CA479965408 | HOTAIR,HOXC11 | c.567G>A (p.Leu189=) n.59+1090C>T | gnomAD v4 |
12 | g.53973808G>C | CA479965409 | HOTAIR,HOXC11 | c.567G>C (p.Leu189=) n.59+1090C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973808G= | CA2037241242 | HOTAIR,HOXC11 | c.567G= (p.Leu189=) n.59+1090C= | |
12 | g.53973808G>T | CA479965407 | HOTAIR,HOXC11 | c.567G>T (p.Leu189=) n.59+1090C>A | |
12 | g.53973809dup | CA2619096617 | HOTAIR,HOXC11 | c.568dup (p.Ala190GlyfsTer5) n.59+1090dup | gnomAD v4 |
12 | g.53973809G>A | CA385105531 | HOTAIR,HOXC11 | c.568G>A (p.Ala190Thr) n.59+1089C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.53973809G>C | CA385105533 | HOTAIR,HOXC11 | c.568G>C (p.Ala190Pro) n.59+1089C>G | |
12 | g.53973809G= | CA2037241244 | HOTAIR,HOXC11 | c.568G= (p.Ala190=) n.59+1089C= | |
12 | g.53973809G>T | CA385105536 | HOTAIR,HOXC11 | c.568G>T (p.Ala190Ser) n.59+1089C>A | gnomAD v4 |
12 | g.53973810C>A | CA385105545 | HOTAIR,HOXC11 | c.569C>A (p.Ala190Glu) n.59+1088G>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.53973810C= | CA2037241246 | HOTAIR,HOXC11 | c.569C= (p.Ala190=) n.59+1088G= | |
12 | g.53973810C>G | CA385105543 | HOTAIR,HOXC11 | c.569C>G (p.Ala190Gly) n.59+1088G>C | ClinVar gnomAD v4 |
12 | g.53973810C>T | CA385105541 | HOTAIR,HOXC11 | c.569C>T (p.Ala190Val) n.59+1088G>A | gnomAD v4 |
12 | g.53973810_53973815del | CA1139655183 | HOTAIR,HOXC11 | c.569_574del (p.Ala190_Arg192delinsGly) n.59+1083_59+1088del | gnomAD v4 |
12 | g.53973811G>A | CA479965412 | HOTAIR,HOXC11 | c.570G>A (p.Ala190=) n.59+1087C>T | gnomAD v4 |
12 | g.53973811G>C | CA479965410 | HOTAIR,HOXC11 | c.570G>C (p.Ala190=) n.59+1087C>G | |
12 | g.53973811G>T | CA479965411 | HOTAIR,HOXC11 | c.570G>T (p.Ala190=) n.59+1087C>A | |
12 | g.53973812T>A | CA385105550 | HOTAIR,HOXC11 | c.571T>A (p.Ser191Thr) n.59+1086A>T | |
12 | g.53973812T>C | CA385105549 | HOTAIR,HOXC11 | c.571T>C (p.Ser191Pro) n.59+1086A>G | |
12 | g.53973812T>G | CA385105553 | HOTAIR,HOXC11 | c.571T>G (p.Ser191Ala) n.59+1086A>C | gnomAD v3 gnomAD v4 |
12 | g.53973812_53973815del | CA2619096633 | HOTAIR,HOXC11 | c.571_574del (p.Ser191GlyfsTer?) n.59+1083_59+1086del | gnomAD v4 |
12 | g.53973813C>A | CA385105557 | HOTAIR,HOXC11 | c.572C>A (p.Ser191Tyr) n.59+1085G>T | |
12 | g.53973813C= | CA2037241249 | HOTAIR,HOXC11 | c.572C= (p.Ser191=) n.59+1085G= | |
12 | g.53973813C>G | CA385105559 | HOTAIR,HOXC11 | c.572C>G (p.Ser191Cys) n.59+1085G>C | gnomAD v4 |
12 | g.53973813C>T | CA6604271 | HOTAIR,HOXC11 | c.572C>T (p.Ser191Phe) n.59+1085G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973814C>A | CA479965414 | HOTAIR,HOXC11 | c.573C>A (p.Ser191=) n.59+1084G>T | gnomAD v4 |
12 | g.53973814C= | CA2037241251 | HOTAIR,HOXC11 | c.573C= (p.Ser191=) n.59+1084G= | |
12 | g.53973814C>G | CA6604272 | HOTAIR,HOXC11 | c.573C>G (p.Ser191=) n.59+1084G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.53973814C>T | CA479965413 | HOTAIR,HOXC11 | c.573C>T (p.Ser191=) n.59+1084G>A | |
12 | g.53973815C>A | CA237398059 | HOTAIR,HOXC11 | c.574C>A (p.Arg192=) n.59+1083G>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.53973815C= | CA2037241255 | HOTAIR,HOXC11 | c.574C= (p.Arg192=) n.59+1083G= | |
12 | g.53973815C>G | CA6604273 | HOTAIR,HOXC11 | c.574C>G (p.Arg192Gly) n.59+1083G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973815C>T | CA6604274 | HOTAIR,HOXC11 | c.574C>T (p.Arg192Trp) n.59+1083G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973816G>A | CA385105570 | HOTAIR,HOXC11 | c.575G>A (p.Arg192Gln) n.59+1082C>T | |
12 | g.53973816G>C | CA385105571 | HOTAIR,HOXC11 | c.575G>C (p.Arg192Pro) n.59+1082C>G | gnomAD v3 gnomAD v4 |
12 | g.53973816G>T | CA385105572 | HOTAIR,HOXC11 | c.575G>T (p.Arg192Leu) n.59+1082C>A | gnomAD v4 |
12 | g.53973817G>A | CA479965415 | HOTAIR,HOXC11 | c.576G>A (p.Arg192=) n.59+1081C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.53973817G>C | CA479965416 | HOTAIR,HOXC11 | c.576G>C (p.Arg192=) n.59+1081C>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.53973817G= | CA2037241257 | HOTAIR,HOXC11 | c.576G= (p.Arg192=) n.59+1081C= | |
12 | g.53973817G>T | CA479965417 | HOTAIR,HOXC11 | c.576G>T (p.Arg192=) n.59+1081C>A | gnomAD v4 |
12 | g.53973818G>A | CA385105573 | HOTAIR,HOXC11 | c.577G>A (p.Ala193Thr) n.59+1080C>T | |
12 | g.53973818G>C | CA385105575 | HOTAIR,HOXC11 | c.577G>C (p.Ala193Pro) n.59+1080C>G | |
12 | g.53973818G>T | CA385105576 | HOTAIR,HOXC11 | c.577G>T (p.Ala193Ser) n.59+1080C>A | |
12 | g.53973819C>A | CA385105580 | HOTAIR,HOXC11 | c.578C>A (p.Ala193Asp) n.59+1079G>T | gnomAD v4 |
12 | g.53973819C>G | CA385105581 | HOTAIR,HOXC11 | c.578C>G (p.Ala193Gly) n.59+1079G>C | |
12 | g.53973819C>T | CA385105582 | HOTAIR,HOXC11 | c.578C>T (p.Ala193Val) n.59+1079G>A | |
12 | g.53973819_53973820del | CA1139770131 | HOTAIR,HOXC11 | c.578_579del (p.Ala193GlyfsTer9) n.59+1078_59+1079del | gnomAD v4 |
12 | g.53973819_53973822del | CA2619096654 | HOTAIR,HOXC11 | c.578_581del (p.Ala193GlyfsTer?) n.59+1076_59+1079del | gnomAD v4 |
12 | g.53973819_53973825del | CA1139655190 | HOTAIR,HOXC11 | c.578_584del (p.Ala193GlyfsTer?) n.59+1073_59+1079del | |
12 | g.53973820T>A | CA479965420 | HOTAIR,HOXC11 | c.579T>A (p.Ala193=) n.59+1078A>T | |
12 | g.53973820T>C | CA479965419 | HOTAIR,HOXC11 | c.579T>C (p.Ala193=) n.59+1078A>G | |
12 | g.53973820T>G | CA479965418 | HOTAIR,HOXC11 | c.579T>G (p.Ala193=) n.59+1078A>C | gnomAD v4 |
12 | g.53973821G>A | CA385105587 | HOTAIR,HOXC11 | c.580G>A (p.Glu194Lys) n.59+1077C>T | dbSNP gnomAD v2 COSMIC |
12 | g.53973821G>C | CA385105585 | HOTAIR,HOXC11 | c.580G>C (p.Glu194Gln) n.59+1077C>G | |
12 | g.53973821G= | CA2037241259 | HOTAIR,HOXC11 | c.580G= (p.Glu194=) n.59+1077C= | |
12 | g.53973821G>T | CA385105584 | HOTAIR,HOXC11 | c.580G>T (p.Glu194Ter) n.59+1077C>A | gnomAD v4 |
12 | g.53973826_53973843del | CA2619096664 | HOTAIR,HOXC11 | c.585_602del (p.Gly196_Ala201del) n.59+1060_59+1077del | gnomAD v4 |
12 | g.53973822A>C | CA385105590 | HOTAIR,HOXC11 | c.581A>C (p.Glu194Ala) n.59+1076T>G | |
12 | g.53973822A>G | CA385105592 | HOTAIR,HOXC11 | c.581A>G (p.Glu194Gly) n.59+1076T>C | gnomAD v4 |
12 | g.53973822A>T | CA385105593 | HOTAIR,HOXC11 | c.581A>T (p.Glu194Val) n.59+1076T>A | |
12 | g.53973823G>A | CA6604275 | HOTAIR,HOXC11 | c.582G>A (p.Glu194=) n.59+1075C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973823G>C | CA385105602 | HOTAIR,HOXC11 | c.582G>C (p.Glu194Asp) n.59+1075C>G | |
12 | g.53973823G= | CA2037241262 | HOTAIR,HOXC11 | c.582G= (p.Glu194=) n.59+1075C= | |
12 | g.53973823G>T | CA385105603 | HOTAIR,HOXC11 | c.582G>T (p.Glu194Asp) n.59+1075C>A | |
12 | g.53973824G>A | CA385105607 | HOTAIR,HOXC11 | c.583G>A (p.Ala195Thr) n.59+1074C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.53973824G>C | CA385105608 | HOTAIR,HOXC11 | c.583G>C (p.Ala195Pro) n.59+1074C>G | gnomAD v4 |
12 | g.53973824G= | CA2037241264 | HOTAIR,HOXC11 | c.583G= (p.Ala195=) n.59+1074C= | |
12 | g.53973824G>T | CA385105610 | HOTAIR,HOXC11 | c.583G>T (p.Ala195Ser) n.59+1074C>A | gnomAD v4 |
12 | g.53973825C>A | CA6604277 | HOTAIR,HOXC11 | c.584C>A (p.Ala195Glu) n.59+1073G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973825C= | CA2037241265 | HOTAIR,HOXC11 | c.584C= (p.Ala195=) n.59+1073G= | |
12 | g.53973825C>G | CA385105613 | HOTAIR,HOXC11 | c.584C>G (p.Ala195Gly) n.59+1073G>C | gnomAD v4 |
12 | g.53973825C>T | CA6604276 | HOTAIR,HOXC11 | c.584C>T (p.Ala195Val) n.59+1073G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973826G>A | CA479965421 | HOTAIR,HOXC11 | c.585G>A (p.Ala195=) n.59+1072C>T | |
12 | g.53973826G>C | CA479965422 | HOTAIR,HOXC11 | c.585G>C (p.Ala195=) n.59+1072C>G | |
12 | g.53973826G>T | CA479965423 | HOTAIR,HOXC11 | c.585G>T (p.Ala195=) n.59+1072C>A | |
12 | g.53973827G>A | CA385105622 | HOTAIR,HOXC11 | c.586G>A (p.Gly196Ser) n.59+1071C>T | |
12 | g.53973827G>C | CA385105620 | HOTAIR,HOXC11 | c.586G>C (p.Gly196Arg) n.59+1071C>G | |
12 | g.53973827G>T | CA385105617 | HOTAIR,HOXC11 | c.586G>T (p.Gly196Cys) n.59+1071C>A | gnomAD v4 |
12 | g.53973828G>A | CA6604278 | HOTAIR,HOXC11 | c.587G>A (p.Gly196Asp) n.59+1070C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.53973828G>C | CA385105625 | HOTAIR,HOXC11 | c.587G>C (p.Gly196Ala) n.59+1070C>G | |
12 | g.53973828G= | CA2037241267 | HOTAIR,HOXC11 | c.587G= (p.Gly196=) n.59+1070C= | |
12 | g.53973828G>T | CA385105627 | HOTAIR,HOXC11 | c.587G>T (p.Gly196Val) n.59+1070C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973829T>A | CA479965424 | HOTAIR,HOXC11 | c.588T>A (p.Gly196=) n.59+1069A>T | |
12 | g.53973829T>C | CA479965425 | HOTAIR,HOXC11 | c.588T>C (p.Gly196=) n.59+1069A>G | |
12 | g.53973829T>G | CA479965426 | HOTAIR,HOXC11 | c.588T>G (p.Gly196=) n.59+1069A>C | dbSNP |
12 | g.53973829T= | CA2037241269 | HOTAIR,HOXC11 | c.588T= (p.Gly196=) n.59+1069A= | |
12 | g.53973830G>A | CA6604279 | HOTAIR,HOXC11 | c.589G>A (p.Ala197Thr) n.59+1068C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973830G>C | CA385105635 | HOTAIR,HOXC11 | c.589G>C (p.Ala197Pro) n.59+1068C>G | |
12 | g.53973830G= | CA2037241271 | HOTAIR,HOXC11 | c.589G= (p.Ala197=) n.59+1068C= | |
12 | g.53973830G>T | CA385105637 | HOTAIR,HOXC11 | c.589G>T (p.Ala197Ser) n.59+1068C>A | gnomAD v4 |
12 | g.53973831C>A | CA385105639 | HOTAIR,HOXC11 | c.590C>A (p.Ala197Asp) n.59+1067G>T | gnomAD v4 |
12 | g.53973831C= | CA2037241273 | HOTAIR,HOXC11 | c.590C= (p.Ala197=) n.59+1067G= | |
12 | g.53973831C>G | CA385105642 | HOTAIR,HOXC11 | c.590C>G (p.Ala197Gly) n.59+1067G>C | |
12 | g.53973831C>T | CA385105643 | HOTAIR,HOXC11 | c.590C>T (p.Ala197Val) n.59+1067G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973832C>A | CA479965427 | HOTAIR,HOXC11 | c.591C>A (p.Ala197=) n.59+1066G>T | |
12 | g.53973832C= | CA2037241274 | HOTAIR,HOXC11 | c.591C= (p.Ala197=) n.59+1066G= | |
12 | g.53973832C>G | CA479965428 | HOTAIR,HOXC11 | c.591C>G (p.Ala197=) n.59+1066G>C | |
12 | g.53973832C>T | CA479965429 | HOTAIR,HOXC11 | c.591C>T (p.Ala197=) n.59+1066G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.53973833G>A | CA385105647 | HOTAIR,HOXC11 | c.592G>A (p.Glu198Lys) n.59+1065C>T | gnomAD v4 |
12 | g.53973833G>C | CA385105648 | HOTAIR,HOXC11 | c.592G>C (p.Glu198Gln) n.59+1065C>G | gnomAD v4 |
12 | g.53973833G>T | CA385105650 | HOTAIR,HOXC11 | c.592G>T (p.Glu198Ter) n.59+1065C>A | |
12 | g.53973838_53973843dup | CA2037241276 | HOTAIR,HOXC11 | c.597_602dup (p.Ala201_Glu202insGluAla) n.59+1060_59+1065dup | dbSNP |
12 | g.53973834A>C | CA385105657 | HOTAIR,HOXC11 | c.593A>C (p.Glu198Ala) n.59+1064T>G | |
12 | g.53973834A>G | CA385105653 | HOTAIR,HOXC11 | c.593A>G (p.Glu198Gly) n.59+1064T>C | gnomAD v4 |
12 | g.53973834A>T | CA385105656 | HOTAIR,HOXC11 | c.593A>T (p.Glu198Val) n.59+1064T>A | |
12 | g.53973835G>A | CA479965430 | HOTAIR,HOXC11 | c.594G>A (p.Glu198=) n.59+1063C>T | |
12 | g.53973835G>C | CA385105659 | HOTAIR,HOXC11 | c.594G>C (p.Glu198Asp) n.59+1063C>G | |
12 | g.53973835G>T | CA385105660 | HOTAIR,HOXC11 | c.594G>T (p.Glu198Asp) n.59+1063C>A | |
12 | g.53973836G>A | CA385105664 | HOTAIR,HOXC11 | c.595G>A (p.Ala199Thr) n.59+1062C>T | gnomAD v4 |
12 | g.53973836G>C | CA385105667 | HOTAIR,HOXC11 | c.595G>C (p.Ala199Pro) n.59+1062C>G | |
12 | g.53973836G>T | CA385105669 | HOTAIR,HOXC11 | c.595G>T (p.Ala199Ser) n.59+1062C>A | gnomAD v4 |
12 | g.53973837C>A | CA385105672 | HOTAIR,HOXC11 | c.596C>A (p.Ala199Glu) n.59+1061G>T | dbSNP |
12 | g.53973837C= | CA2037241278 | HOTAIR,HOXC11 | c.596C= (p.Ala199=) n.59+1061G= | |
12 | g.53973837C>G | CA385105674 | HOTAIR,HOXC11 | c.596C>G (p.Ala199Gly) n.59+1061G>C | |
12 | g.53973837C>T | CA385105676 | HOTAIR,HOXC11 | c.596C>T (p.Ala199Val) n.59+1061G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.53973838G>A | CA479965431 | HOTAIR,HOXC11 | c.597G>A (p.Ala199=) n.59+1060C>T | |
12 | g.53973838G>C | CA479965432 | HOTAIR,HOXC11 | c.597G>C (p.Ala199=) n.59+1060C>G | |
12 | g.53973838G>T | CA479965433 | HOTAIR,HOXC11 | c.597G>T (p.Ala199=) n.59+1060C>A | gnomAD v4 |
12 | g.53973838_53973844delinsGGAGGCT | CA2037241280 | HOTAIR,HOXC11 | c.597_603delinsGGAGGCT (p.Ala199=) n.59+1054_59+1060delinsAGCCTCC | |
12 | g.53973839G>A | CA385105679 | HOTAIR,HOXC11 | c.598G>A (p.Glu200Lys) n.59+1059C>T | |
12 | g.53973839G>C | CA385105682 | HOTAIR,HOXC11 | c.598G>C (p.Glu200Gln) n.59+1059C>G | dbSNP gnomAD v2 |
12 | g.53973839G= | CA2037241283 | HOTAIR,HOXC11 | c.598G= (p.Glu200=) n.59+1059C= | |
12 | g.53973839G>T | CA385105683 | HOTAIR,HOXC11 | c.598G>T (p.Glu200Ter) n.59+1059C>A | |
12 | g.53973843_53973848del | CA2037241282 | HOTAIR,HOXC11 | c.602_607del (p.Ala201_Glu202del) n.59+1054_59+1059del | dbSNP |
12 | g.53973840A= | CA2037241285 | HOTAIR,HOXC11 | c.599A= (p.Glu200=) n.59+1058T= | |
12 | g.53973840A>C | CA385105691 | HOTAIR,HOXC11 | c.599A>C (p.Glu200Ala) n.59+1058T>G | dbSNP |
12 | g.53973840A>G | CA385105688 | HOTAIR,HOXC11 | c.599A>G (p.Glu200Gly) n.59+1058T>C | |
12 | g.53973840A>T | CA385105686 | HOTAIR,HOXC11 | c.599A>T (p.Glu200Val) n.59+1058T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973841G>A | CA479965434 | HOTAIR,HOXC11 | c.600G>A (p.Glu200=) n.59+1057C>T | |
12 | g.53973841G>C | CA385105693 | HOTAIR,HOXC11 | c.600G>C (p.Glu200Asp) n.59+1057C>G | |
12 | g.53973841G>T | CA385105695 | HOTAIR,HOXC11 | c.600G>T (p.Glu200Asp) n.59+1057C>A | |
12 | g.53973842G>A | CA385105699 | HOTAIR,HOXC11 | c.601G>A (p.Ala201Thr) n.59+1056C>T | dbSNP |
12 | g.53973842G>C | CA385105700 | HOTAIR,HOXC11 | c.601G>C (p.Ala201Pro) n.59+1056C>G | |
12 | g.53973842G= | CA2037241287 | HOTAIR,HOXC11 | c.601G= (p.Ala201=) n.59+1056C= | |
12 | g.53973842G>T | CA385105701 | HOTAIR,HOXC11 | c.601G>T (p.Ala201Ser) n.59+1056C>A | gnomAD v4 |
12 | g.53973843C>A | CA385105704 | HOTAIR,HOXC11 | c.602C>A (p.Ala201Asp) n.59+1055G>T | gnomAD v4 |
12 | g.53973843C>G | CA385105706 | HOTAIR,HOXC11 | c.602C>G (p.Ala201Gly) n.59+1055G>C | |
12 | g.53973843C>T | CA385105708 | HOTAIR,HOXC11 | c.602C>T (p.Ala201Val) n.59+1055G>A | gnomAD v4 |
12 | g.53973844T>A | CA479965435 | HOTAIR,HOXC11 | c.603T>A (p.Ala201=) n.59+1054A>T | |
12 | g.53973844T>C | CA479965436 | HOTAIR,HOXC11 | c.603T>C (p.Ala201=) n.59+1054A>G | |
12 | g.53973844T>G | CA237398072 | HOTAIR,HOXC11 | c.603T>G (p.Ala201=) n.59+1054A>C | dbSNP |
12 | g.53973844T= | CA2037241290 | HOTAIR,HOXC11 | c.603T= (p.Ala201=) n.59+1054A= | |
12 | g.53973844_53973847delinsTGAG | CA2037241289 | HOTAIR,HOXC11 | c.603_606delinsTGAG (p.Ala201=) n.59+1051_59+1054delinsCTCA | |
12 | g.53973845G>A | CA385105720 | HOTAIR,HOXC11 | c.604G>A (p.Glu202Lys) n.59+1053C>T | |
12 | g.53973845G>C | CA385105718 | HOTAIR,HOXC11 | c.604G>C (p.Glu202Gln) n.59+1053C>G | |
12 | g.53973845G>T | CA385105723 | HOTAIR,HOXC11 | c.604G>T (p.Glu202Ter) n.59+1053C>A | |
12 | g.53973851_53973853del | CA6604280 | HOTAIR,HOXC11 | c.610_612del (p.Glu204del) n.59+1051_59+1053del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973846A= | CA2037241294 | HOTAIR,HOXC11 | c.605A= (p.Glu202=) n.59+1052T= | |
12 | g.53973846A>C | CA385105725 | HOTAIR,HOXC11 | c.605A>C (p.Glu202Ala) n.59+1052T>G | |
12 | g.53973846A>G | CA385105727 | HOTAIR,HOXC11 | c.605A>G (p.Glu202Gly) n.59+1052T>C | dbSNP gnomAD v4 |
12 | g.53973846A>T | CA385105729 | HOTAIR,HOXC11 | c.605A>T (p.Glu202Val) n.59+1052T>A | |
12 | g.53973847G>A | CA479965437 | HOTAIR,HOXC11 | c.606G>A (p.Glu202=) n.59+1051C>T | dbSNP gnomAD v4 |
12 | g.53973847G>C | CA385105733 | HOTAIR,HOXC11 | c.606G>C (p.Glu202Asp) n.59+1051C>G | |
12 | g.53973847G= | CA2037241298 | HOTAIR,HOXC11 | c.606G= (p.Glu202=) n.59+1051C= | |
12 | g.53973847G>T | CA385105734 | HOTAIR,HOXC11 | c.606G>T (p.Glu202Asp) n.59+1051C>A | gnomAD v4 COSMIC |
12 | g.53973848G>A | CA385105742 | HOTAIR,HOXC11 | c.607G>A (p.Glu203Lys) n.59+1050C>T | gnomAD v4 |
12 | g.53973848G>C | CA385105739 | HOTAIR,HOXC11 | c.607G>C (p.Glu203Gln) n.59+1050C>G | |
12 | g.53973848G>T | CA385105736 | HOTAIR,HOXC11 | c.607G>T (p.Glu203Ter) n.59+1050C>A | |
12 | g.53973849A>C | CA385105746 | HOTAIR,HOXC11 | c.608A>C (p.Glu203Ala) n.59+1049T>G | |
12 | g.53973849A>G | CA385105747 | HOTAIR,HOXC11 | c.608A>G (p.Glu203Gly) n.59+1049T>C | |
12 | g.53973849A>T | CA385105750 | HOTAIR,HOXC11 | c.608A>T (p.Glu203Val) n.59+1049T>A | |
12 | g.53973850G>A | CA479965438 | HOTAIR,HOXC11 | c.609G>A (p.Glu203=) n.59+1048C>T | gnomAD v4 |
12 | g.53973850G>C | CA385105753 | HOTAIR,HOXC11 | c.609G>C (p.Glu203Asp) n.59+1048C>G | |
12 | g.53973850G>T | CA385105755 | HOTAIR,HOXC11 | c.609G>T (p.Glu203Asp) n.59+1048C>A | |
12 | g.53973851G>A | CA6604281 | HOTAIR,HOXC11 | c.610G>A (p.Glu204Lys) n.59+1047C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.53973851G>C | CA385105758 | HOTAIR,HOXC11 | c.610G>C (p.Glu204Gln) n.59+1047C>G | |
12 | g.53973851G= | CA2037241302 | HOTAIR,HOXC11 | c.610G= (p.Glu204=) n.59+1047C= | |
12 | g.53973851G>T | CA385105761 | HOTAIR,HOXC11 | c.610G>T (p.Glu204Ter) n.59+1047C>A | gnomAD v4 |
12 | g.53973852A>C | CA385105762 | HOTAIR,HOXC11 | c.611A>C (p.Glu204Ala) n.59+1046T>G | |
12 | g.53973852A>G | CA385105766 | HOTAIR,HOXC11 | c.611A>G (p.Glu204Gly) n.59+1046T>C | |
12 | g.53973852A>T | CA385105765 | HOTAIR,HOXC11 | c.611A>T (p.Glu204Val) n.59+1046T>A | |
12 | g.53973853G>A | CA479965439 | HOTAIR,HOXC11 | c.612G>A (p.Glu204=) n.59+1045C>T | |
12 | g.53973853G>C | CA385105768 | HOTAIR,HOXC11 | c.612G>C (p.Glu204Asp) n.59+1045C>G | |
12 | g.53973853G>T | CA385105769 | HOTAIR,HOXC11 | c.612G>T (p.Glu204Asp) n.59+1045C>A | gnomAD v4 |
12 | g.53973854A>C | CA385105770 | HOTAIR,HOXC11 | c.613A>C (p.Asn205His) n.59+1044T>G | |
12 | g.53973854A>G | CA385105771 | HOTAIR,HOXC11 | c.613A>G (p.Asn205Asp) n.59+1044T>C | |
12 | g.53973854A>T | CA385105772 | HOTAIR,HOXC11 | c.613A>T (p.Asn205Tyr) n.59+1044T>A | |
12 | g.53973855A>C | CA385105774 | HOTAIR,HOXC11 | c.614A>C (p.Asn205Thr) n.59+1043T>G | |
12 | g.53973855A>G | CA385105775 | HOTAIR,HOXC11 | c.614A>G (p.Asn205Ser) n.59+1043T>C | |
12 | g.53973855A>T | CA385105776 | HOTAIR,HOXC11 | c.614A>T (p.Asn205Ile) n.59+1043T>A | |
12 | g.53973856C>A | CA385105778 | HOTAIR,HOXC11 | c.615C>A (p.Asn205Lys) n.59+1042G>T | gnomAD v4 |
12 | g.53973856C= | CA2037241305 | HOTAIR,HOXC11 | c.615C= (p.Asn205=) n.59+1042G= | |
12 | g.53973856C>G | CA385105779 | HOTAIR,HOXC11 | c.615C>G (p.Asn205Lys) n.59+1042G>C | |
12 | g.53973856C>T | CA479965440 | HOTAIR,HOXC11 | c.615C>T (p.Asn205=) n.59+1042G>A | dbSNP gnomAD v4 |
12 | g.53973857A>C | CA385105780 | HOTAIR,HOXC11 | c.616A>C (p.Thr206Pro) n.59+1041T>G | |
12 | g.53973857A>G | CA385105781 | HOTAIR,HOXC11 | c.616A>G (p.Thr206Ala) n.59+1041T>C | |
12 | g.53973857A>T | CA385105782 | HOTAIR,HOXC11 | c.616A>T (p.Thr206Ser) n.59+1041T>A | |
12 | g.53973858C>A | CA385105783 | HOTAIR,HOXC11 | c.617C>A (p.Thr206Lys) n.59+1040G>T | |
12 | g.53973858C= | CA2037241309 | HOTAIR,HOXC11 | c.617C= (p.Thr206=) n.59+1040G= | |
12 | g.53973858C>G | CA385105785 | HOTAIR,HOXC11 | c.617C>G (p.Thr206Arg) n.59+1040G>C | dbSNP |
12 | g.53973858C>T | CA385105784 | HOTAIR,HOXC11 | c.617C>T (p.Thr206Ile) n.59+1040G>A | |
12 | g.53973859A>C | CA479965443 | HOTAIR,HOXC11 | c.618A>C (p.Thr206=) n.59+1039T>G | |
12 | g.53973859A>G | CA479965441 | HOTAIR,HOXC11 | c.618A>G (p.Thr206=) n.59+1039T>C | gnomAD v4 |
12 | g.53973859A>T | CA479965442 | HOTAIR,HOXC11 | c.618A>T (p.Thr206=) n.59+1039T>A | |
12 | g.53973860A>C | CA385105789 | HOTAIR,HOXC11 | c.619A>C (p.Asn207His) n.59+1038T>G | |
12 | g.53973860A>G | CA385105790 | HOTAIR,HOXC11 | c.619A>G (p.Asn207Asp) n.59+1038T>C | |
12 | g.53973860A>T | CA385105791 | HOTAIR,HOXC11 | c.619A>T (p.Asn207Tyr) n.59+1038T>A | COSMIC |
12 | g.53973861A>C | CA385105793 | HOTAIR,HOXC11 | c.620A>C (p.Asn207Thr) n.59+1037T>G | |
12 | g.53973861A>G | CA385105796 | HOTAIR,HOXC11 | c.620A>G (p.Asn207Ser) n.59+1037T>C | |
12 | g.53973861A>T | CA385105798 | HOTAIR,HOXC11 | c.620A>T (p.Asn207Ile) n.59+1037T>A | |
12 | g.53973862T>A | CA385105800 | HOTAIR,HOXC11 | c.621T>A (p.Asn207Lys) n.59+1036A>T | |
12 | g.53973862T>C | CA479965444 | HOTAIR,HOXC11 | c.621T>C (p.Asn207=) n.59+1036A>G | |
12 | g.53973862T>G | CA385105802 | HOTAIR,HOXC11 | c.621T>G (p.Asn207Lys) n.59+1036A>C | |
12 | g.53973863C>A | CA385105805 | HOTAIR,HOXC11 | c.622C>A (p.Pro208Thr) n.59+1035G>T | gnomAD v4 |
12 | g.53973863C= | CA2037241312 | HOTAIR,HOXC11 | c.622C= (p.Pro208=) n.59+1035G= | |
12 | g.53973863C>G | CA385105807 | HOTAIR,HOXC11 | c.622C>G (p.Pro208Ala) n.59+1035G>C | |
12 | g.53973863C>T | CA237398078 | HOTAIR,HOXC11 | c.622C>T (p.Pro208Ser) n.59+1035G>A | dbSNP |
12 | g.53973864C>A | CA385105815 | HOTAIR,HOXC11 | c.623C>A (p.Pro208His) n.59+1034G>T | |
12 | g.53973864C>G | CA385105817 | HOTAIR,HOXC11 | c.623C>G (p.Pro208Arg) n.59+1034G>C | |
12 | g.53973864C>T | CA385105813 | HOTAIR,HOXC11 | c.623C>T (p.Pro208Leu) n.59+1034G>A | |
12 | g.53973865C>A | CA479965445 | HOTAIR,HOXC11 | c.624C>A (p.Pro208=) n.59+1033G>T | gnomAD v4 |
12 | g.53973865C>G | CA479965446 | HOTAIR,HOXC11 | c.624C>G (p.Pro208=) n.59+1033G>C | |
12 | g.53973865C>T | CA479965447 | HOTAIR,HOXC11 | c.624C>T (p.Pro208=) n.59+1033G>A | |
12 | g.53973866A>C | CA385105821 | HOTAIR,HOXC11 | c.625A>C (p.Ser209Arg) n.59+1032T>G | |
12 | g.53973866A>G | CA385105823 | HOTAIR,HOXC11 | c.625A>G (p.Ser209Gly) n.59+1032T>C | |
12 | g.53973866A>T | CA385105825 | HOTAIR,HOXC11 | c.625A>T (p.Ser209Cys) n.59+1032T>A | gnomAD v4 |