Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.53973766_53973777dupCA689961572HOTAIR,HOXC11c.525_536dup (p.Gly179_Glu180insGluAlaLysGly)
n.59+1127_59+1138dup
dbSNP gnomAD v3 gnomAD v4
12g.53973772_53973789delCA2619096522HOTAIR,HOXC11c.531_548del (p.Lys178_Ala183del)
n.59+1115_59+1132del
gnomAD v4
12g.53973769G>ACA479965378HOTAIR,HOXC11c.528G>A (p.Glu176=)
n.59+1129C>T
12g.53973769G>CCA385105328HOTAIR,HOXC11c.528G>C (p.Glu176Asp)
n.59+1129C>G
12g.53973769G=CA2037241182HOTAIR,HOXC11c.528G= (p.Glu176=)
n.59+1129C=
12g.53973769G>TCA385105326HOTAIR,HOXC11c.528G>T (p.Glu176Asp)
n.59+1129C>A
12g.53973769_53973770insTCA385105331HOTAIR,HOXC11c.528_529insT (p.Ala177CysfsTer18)
n.59+1128_59+1129insA
dbSNP
12g.53973770G>ACA385105332HOTAIR,HOXC11c.529G>A (p.Ala177Thr)
n.59+1128C>T
12g.53973770G>CCA385105334HOTAIR,HOXC11c.529G>C (p.Ala177Pro)
n.59+1128C>G
12g.53973770G>TCA385105336HOTAIR,HOXC11c.529G>T (p.Ala177Ser)
n.59+1128C>A
12g.53973771C>ACA385105339HOTAIR,HOXC11c.530C>A (p.Ala177Asp)
n.59+1127G>T
12g.53973771C=CA2037241186HOTAIR,HOXC11c.530C= (p.Ala177=)
n.59+1127G=
12g.53973771C>GCA385105341HOTAIR,HOXC11c.530C>G (p.Ala177Gly)
n.59+1127G>C
dbSNP gnomAD v3 gnomAD v4
12g.53973771C>TCA385105343HOTAIR,HOXC11c.530C>T (p.Ala177Val)
n.59+1127G>A
12g.53973772C>ACA479965380HOTAIR,HOXC11c.531C>A (p.Ala177=)
n.59+1126G>T
12g.53973772C>GCA479965381HOTAIR,HOXC11c.531C>G (p.Ala177=)
n.59+1126G>C
12g.53973772C>TCA479965379HOTAIR,HOXC11c.531C>T (p.Ala177=)
n.59+1126G>A
12g.53973773A=CA2037241188HOTAIR,HOXC11c.532A= (p.Lys178=)
n.59+1125T=
12g.53973773A>CCA385105347HOTAIR,HOXC11c.532A>C (p.Lys178Gln)
n.59+1125T>G
12g.53973773A>GCA6604263HOTAIR,HOXC11c.532A>G (p.Lys178Glu)
n.59+1125T>C
dbSNP ExAC gnomAD v2 gnomAD v4
12g.53973773A>TCA385105351HOTAIR,HOXC11c.532A>T (p.Lys178Ter)
n.59+1125T>A
gnomAD v4
12g.53973774A=CA2037241192HOTAIR,HOXC11c.533A= (p.Lys178=)
n.59+1124T=
12g.53973774A>CCA385105354HOTAIR,HOXC11c.533A>C (p.Lys178Thr)
n.59+1124T>G
dbSNP gnomAD v3 gnomAD v4
12g.53973774A>GCA385105357HOTAIR,HOXC11c.533A>G (p.Lys178Arg)
n.59+1124T>C
12g.53973774A>TCA385105358HOTAIR,HOXC11c.533A>T (p.Lys178Met)
n.59+1124T>A
12g.53973775G>ACA479965382HOTAIR,HOXC11c.534G>A (p.Lys178=)
n.59+1123C>T
12g.53973775G>CCA385105364HOTAIR,HOXC11c.534G>C (p.Lys178Asn)
n.59+1123C>G
12g.53973775G>TCA385105367HOTAIR,HOXC11c.534G>T (p.Lys178Asn)
n.59+1123C>A
12g.53973779dupCA2619096536HOTAIR,HOXC11c.538dup (p.Glu180GlyfsTer15)
n.59+1123dup
gnomAD v4
12g.53973776G>ACA385105370HOTAIR,HOXC11c.535G>A (p.Gly179Arg)
n.59+1122C>T
12g.53973776G>CCA385105372HOTAIR,HOXC11c.535G>C (p.Gly179Arg)
n.59+1122C>G
12g.53973776G>TCA385105373HOTAIR,HOXC11c.535G>T (p.Gly179Trp)
n.59+1122C>A
12g.53973777G>ACA385105376HOTAIR,HOXC11c.536G>A (p.Gly179Glu)
n.59+1121C>T
gnomAD v4
12g.53973777G>CCA385105379HOTAIR,HOXC11c.536G>C (p.Gly179Ala)
n.59+1121C>G
12g.53973777G>TCA385105381HOTAIR,HOXC11c.536G>T (p.Gly179Val)
n.59+1121C>A
12g.53973778G>ACA6604264HOTAIR,HOXC11c.537G>A (p.Gly179=)
n.59+1120C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.53973778G>CCA479965383HOTAIR,HOXC11c.537G>C (p.Gly179=)
n.59+1120C>G
12g.53973778G=CA2037241194HOTAIR,HOXC11c.537G= (p.Gly179=)
n.59+1120C=
12g.53973778G>TCA479965384HOTAIR,HOXC11c.537G>T (p.Gly179=)
n.59+1120C>A
COSMIC
12g.53973779G>ACA385105387HOTAIR,HOXC11c.538G>A (p.Glu180Lys)
n.59+1119C>T
12g.53973779G>CCA385105389HOTAIR,HOXC11c.538G>C (p.Glu180Gln)
n.59+1119C>G
gnomAD v4
12g.53973779G>TCA385105391HOTAIR,HOXC11c.538G>T (p.Glu180Ter)
n.59+1119C>A
COSMIC
12g.53973780A>CCA385105394HOTAIR,HOXC11c.539A>C (p.Glu180Ala)
n.59+1118T>G
12g.53973780A>GCA385105395HOTAIR,HOXC11c.539A>G (p.Glu180Gly)
n.59+1118T>C
12g.53973780A>TCA385105400HOTAIR,HOXC11c.539A>T (p.Glu180Val)
n.59+1118T>A
12g.53973780_53973808delinsAGCCCGAGGCACCCCCGGCCTCGGGACTGCA2037241196HOTAIR,HOXC11c.539_567delinsAGCCCGAGGCACCCCCGGCCTCGGGACTG (p.Glu180=)
n.59+1090_59+1118delinsCAGTCCCGAGGCCGGGGGTGCCTCGGGCT
12g.53973781G>ACA237398023HOTAIR,HOXC11c.540G>A (p.Glu180=)
n.59+1117C>T
dbSNP gnomAD v2 gnomAD v4
12g.53973781G>CCA385105402HOTAIR,HOXC11c.540G>C (p.Glu180Asp)
n.59+1117C>G
12g.53973781G=CA2037241201HOTAIR,HOXC11c.540G= (p.Glu180=)
n.59+1117C=
12g.53973781G>TCA385105404HOTAIR,HOXC11c.540G>T (p.Glu180Asp)
n.59+1117C>A
12g.53973783_53973810delCA6604265HOTAIR,HOXC11c.542_569del (p.Pro181ArgfsTer?)
n.59+1090_59+1117del
dbSNP ExAC
12g.53973782C>ACA385105407HOTAIR,HOXC11c.541C>A (p.Pro181Thr)
n.59+1116G>T
12g.53973782C=CA2037241205HOTAIR,HOXC11c.541C= (p.Pro181=)
n.59+1116G=
12g.53973782C>GCA385105408HOTAIR,HOXC11c.541C>G (p.Pro181Ala)
n.59+1116G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.53973782C>TCA6604266HOTAIR,HOXC11c.541C>T (p.Pro181Ser)
n.59+1116G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.53973783C>ACA385105411HOTAIR,HOXC11c.542C>A (p.Pro181His)
n.59+1115G>T
12g.53973783C>GCA385105412HOTAIR,HOXC11c.542C>G (p.Pro181Arg)
n.59+1115G>C
12g.53973783C>TCA385105415HOTAIR,HOXC11c.542C>T (p.Pro181Leu)
n.59+1115G>A
gnomAD v4
12g.53973784C>ACA479965385HOTAIR,HOXC11c.543C>A (p.Pro181=)
n.59+1114G>T
gnomAD v4
12g.53973784C=CA2037241208HOTAIR,HOXC11c.543C= (p.Pro181=)
n.59+1114G=
12g.53973784C>GCA479965386HOTAIR,HOXC11c.543C>G (p.Pro181=)
n.59+1114G>C
gnomAD v4
12g.53973784C>TCA6604267HOTAIR,HOXC11c.543C>T (p.Pro181=)
n.59+1114G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.53973785G>ACA385105421HOTAIR,HOXC11c.544G>A (p.Glu182Lys)
n.59+1113C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.53973785G>CCA385105423HOTAIR,HOXC11c.544G>C (p.Glu182Gln)
n.59+1113C>G
12g.53973785G=CA2037241211HOTAIR,HOXC11c.544G= (p.Glu182=)
n.59+1113C=
12g.53973785G>TCA385105426HOTAIR,HOXC11c.544G>T (p.Glu182Ter)
n.59+1113C>A
12g.53973786A=CA2037241214HOTAIR,HOXC11c.545A= (p.Glu182=)
n.59+1112T=
12g.53973786A>CCA385105427HOTAIR,HOXC11c.545A>C (p.Glu182Ala)
n.59+1112T>G
gnomAD v4
12g.53973786A>GCA385105428HOTAIR,HOXC11c.545A>G (p.Glu182Gly)
n.59+1112T>C
12g.53973786A>TCA385105429HOTAIR,HOXC11c.545A>T (p.Glu182Val)
n.59+1112T>A
dbSNP
12g.53973787G>ACA479965387HOTAIR,HOXC11c.546G>A (p.Glu182=)
n.59+1111C>T
12g.53973787G>CCA385105430HOTAIR,HOXC11c.546G>C (p.Glu182Asp)
n.59+1111C>G
12g.53973787G>TCA385105431HOTAIR,HOXC11c.546G>T (p.Glu182Asp)
n.59+1111C>A
12g.53973788G>ACA385105433HOTAIR,HOXC11c.547G>A (p.Ala183Thr)
n.59+1110C>T
gnomAD v4
12g.53973788G>CCA385105436HOTAIR,HOXC11c.547G>C (p.Ala183Pro)
n.59+1110C>G
12g.53973788G>TCA385105435HOTAIR,HOXC11c.547G>T (p.Ala183Ser)
n.59+1110C>A
12g.53973789C>ACA385105439HOTAIR,HOXC11c.548C>A (p.Ala183Glu)
n.59+1109G>T
12g.53973789C>GCA385105440HOTAIR,HOXC11c.548C>G (p.Ala183Gly)
n.59+1109G>C
12g.53973789C>TCA385105441HOTAIR,HOXC11c.548C>T (p.Ala183Val)
n.59+1109G>A
12g.53973790A=CA2037241218HOTAIR,HOXC11c.549A= (p.Ala183=)
n.59+1108T=
12g.53973790A>CCA479965388HOTAIR,HOXC11c.549A>C (p.Ala183=)
n.59+1108T>G
dbSNP
12g.53973790A>GCA479965389HOTAIR,HOXC11c.549A>G (p.Ala183=)
n.59+1108T>C
12g.53973790A>TCA479965390HOTAIR,HOXC11c.549A>T (p.Ala183=)
n.59+1108T>A
dbSNP
12g.53973791C>ACA385105442HOTAIR,HOXC11c.550C>A (p.Pro184Thr)
n.59+1107G>T
gnomAD v4
12g.53973791C=CA2037241221HOTAIR,HOXC11c.550C= (p.Pro184=)
n.59+1107G=
12g.53973791C>GCA385105444HOTAIR,HOXC11c.550C>G (p.Pro184Ala)
n.59+1107G>C
gnomAD v4
12g.53973791C>TCA6604268HOTAIR,HOXC11c.550C>T (p.Pro184Ser)
n.59+1107G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.53973795dupCA2619096564HOTAIR,HOXC11c.554dup (p.Ala186GlyfsTer9)
n.59+1107dup
gnomAD v4
12g.53973792C>ACA385105449HOTAIR,HOXC11c.551C>A (p.Pro184His)
n.59+1106G>T
12g.53973792C>GCA385105451HOTAIR,HOXC11c.551C>G (p.Pro184Arg)
n.59+1106G>C
12g.53973792C>TCA385105453HOTAIR,HOXC11c.551C>T (p.Pro184Leu)
n.59+1106G>A
COSMIC
12g.53973793C>ACA479965392HOTAIR,HOXC11c.552C>A (p.Pro184=)
n.59+1105G>T
12g.53973793C>GCA479965393HOTAIR,HOXC11c.552C>G (p.Pro184=)
n.59+1105G>C
12g.53973793C>TCA479965391HOTAIR,HOXC11c.552C>T (p.Pro184=)
n.59+1105G>A
gnomAD v4
12g.53973794C>ACA385105457HOTAIR,HOXC11c.553C>A (p.Pro185Thr)
n.59+1104G>T
12g.53973794C>GCA385105461HOTAIR,HOXC11c.553C>G (p.Pro185Ala)
n.59+1104G>C
12g.53973794C>TCA385105455HOTAIR,HOXC11c.553C>T (p.Pro185Ser)
n.59+1104G>A
12g.53973795C>ACA385105464HOTAIR,HOXC11c.554C>A (p.Pro185Gln)
n.59+1103G>T
dbSNP gnomAD v4
12g.53973795C=CA2037241223HOTAIR,HOXC11c.554C= (p.Pro185=)
n.59+1103G=
12g.53973795C>GCA385105466HOTAIR,HOXC11c.554C>G (p.Pro185Arg)
n.59+1103G>C
gnomAD v4
12g.53973795C>TCA6604269HOTAIR,HOXC11c.554C>T (p.Pro185Leu)
n.59+1103G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.53973795_53973816delinsCGGCCTCGGGACTGGCGTCCCGCA2037241225HOTAIR,HOXC11c.554_575delinsCGGCCTCGGGACTGGCGTCCCG (p.Pro185=)
n.59+1082_59+1103delinsCGGGACGCCAGTCCCGAGGCCG
12g.53973795_53973796insTTCA2575177060HOTAIR,HOXC11c.554_555insTT (p.Ala186TrpfsTer?)
n.59+1102_59+1103insAA
gnomAD v4
12g.53973796G>ACA479965394HOTAIR,HOXC11c.555G>A (p.Pro185=)
n.59+1102C>T
dbSNP gnomAD v2 gnomAD v4
12g.53973796G>CCA479965395HOTAIR,HOXC11c.555G>C (p.Pro185=)
n.59+1102C>G
gnomAD v4
12g.53973796G=CA2037241229HOTAIR,HOXC11c.555G= (p.Pro185=)
n.59+1102C=
12g.53973796G>TCA479965396HOTAIR,HOXC11c.555G>T (p.Pro185=)
n.59+1102C>A
12g.53973799_53973819delCA919091698HOTAIR,HOXC11c.558_578del (p.Ser187_Ala193del)
n.59+1082_59+1102del
dbSNP
12g.53973797G>ACA385105471HOTAIR,HOXC11c.556G>A (p.Ala186Thr)
n.59+1101C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.53973797G>CCA385105474HOTAIR,HOXC11c.556G>C (p.Ala186Pro)
n.59+1101C>G
12g.53973797G=CA2037241231HOTAIR,HOXC11c.556G= (p.Ala186=)
n.59+1101C=
12g.53973797G>TCA385105475HOTAIR,HOXC11c.556G>T (p.Ala186Ser)
n.59+1101C>A
12g.53973798C>ACA385105479HOTAIR,HOXC11c.557C>A (p.Ala186Asp)
n.59+1100G>T
12g.53973798C>GCA385105483HOTAIR,HOXC11c.557C>G (p.Ala186Gly)
n.59+1100G>C
12g.53973798C>TCA385105486HOTAIR,HOXC11c.557C>T (p.Ala186Val)
n.59+1100G>A
12g.53973799C>ACA479965397HOTAIR,HOXC11c.558C>A (p.Ala186=)
n.59+1099G>T
12g.53973799C>GCA479965398HOTAIR,HOXC11c.558C>G (p.Ala186=)
n.59+1099G>C
12g.53973799C>TCA479965399HOTAIR,HOXC11c.558C>T (p.Ala186=)
n.59+1099G>A
12g.53973800_53973801delCA1139770127HOTAIR,HOXC11c.559_560del (p.Ser187GlyfsTer7)
n.59+1098_59+1099del
12g.53973800T>ACA385105490HOTAIR,HOXC11c.559T>A (p.Ser187Thr)
n.59+1098A>T
gnomAD v4
12g.53973800T>CCA385105493HOTAIR,HOXC11c.559T>C (p.Ser187Pro)
n.59+1098A>G
12g.53973800T>GCA385105495HOTAIR,HOXC11c.559T>G (p.Ser187Ala)
n.59+1098A>C
gnomAD v4
12g.53973800_53973801insGGGGGGGGGGCA2619096603HOTAIR,HOXC11c.559_560insGGGGGGGGGG (p.Ser187TrpfsTer11)
n.59+1097_59+1098insCCCCCCCCCC
gnomAD v4
12g.53973800_53973801insGGGGGGGGGGGGGGCA2619096602HOTAIR,HOXC11c.559_560insGGGGGGGGGGGGGG (p.Ser187TrpfsTer?)
n.59+1097_59+1098insCCCCCCCCCCCCCC
gnomAD v4
12g.53973800_53973801insGGGGGGGGGGGGGGGGGGGGCA2619096601HOTAIR,HOXC11c.559_560insGGGGGGGGGGGGGGGGGGGG (p.Ser187TrpfsTer?)
n.59+1097_59+1098insCCCCCCCCCCCCCCCCCCCC
gnomAD v4
12g.53973800_53973801insGGGGGGGGGGGGGGGGGGGGGCA2619096600HOTAIR,HOXC11c.559_560insGGGGGGGGGGGGGGGGGGGGG (p.Ser187delinsTrpGlyGlyGlyGlyGlyGlyAla)
n.59+1097_59+1098insCCCCCCCCCCCCCCCCCCCCC
gnomAD v4
12g.53973800_53973801insGGGGGGGGGGGGGGGGGGGGGGGCA2619096599HOTAIR,HOXC11c.559_560insGGGGGGGGGGGGGGGGGGGGGGG (p.Ser187TrpfsTer?)
n.59+1097_59+1098insCCCCCCCCCCCCCCCCCCCCCCC
gnomAD v4
12g.53973800_53973801insGGGGGGGGGGGGGGGGGGGGGGGGGCA2619096598HOTAIR,HOXC11c.559_560insGGGGGGGGGGGGGGGGGGGGGGGGG (p.Ser187TrpfsTer16)
n.59+1097_59+1098insCCCCCCCCCCCCCCCCCCCCCCCCC
gnomAD v4
12g.53973800_53973801insGGGGGGGGGGGGGGGGGGGGGGGGGGCA2619096594HOTAIR,HOXC11c.559_560insGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Ser187TrpfsTer?)
n.59+1097_59+1098insCCCCCCCCCCCCCCCCCCCCCCCCCC
gnomAD v4
12g.53973800_53973801insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2619096596HOTAIR,HOXC11c.559_560insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Ser187TrpfsTer17)
n.59+1097_59+1098insCCCCCCCCCCCCCCCCCCCCCCCCCCCC
gnomAD v4
12g.53973800_53973801insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA1139770129HOTAIR,HOXC11c.559_560insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Ser187TrpfsTer?)
n.59+1097_59+1098insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC
12g.53973800_53973801insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCA2497028806HOTAIR,HOXC11c.559_560insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Ser187delinsTrpGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyAla)
n.59+1097_59+1098insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC
12g.53973801delCA1139770128HOTAIR,HOXC11c.560del (p.Ser187TrpfsTer?)
n.59+1097del
gnomAD v4
12g.53973801C>ACA385105501HOTAIR,HOXC11c.560C>A (p.Ser187Ter)
n.59+1097G>T
12g.53973801C=CA2037241232HOTAIR,HOXC11c.560C= (p.Ser187=)
n.59+1097G=
12g.53973801C>GCA385105503HOTAIR,HOXC11c.560C>G (p.Ser187Trp)
n.59+1097G>C
dbSNP gnomAD v4
12g.53973801C>TCA237398053HOTAIR,HOXC11c.560C>T (p.Ser187Leu)
n.59+1097G>A
dbSNP gnomAD v3 gnomAD v4
12g.53973801_53973802insAGGGGGGGGGGGGGGGCA1139770130HOTAIR,HOXC11c.560_561insAGGGGGGGGGGGGGGG (p.Leu189GlyfsTer11)
n.59+1096_59+1097insCCCCCCCCCCCCCCCT
12g.53973802G>ACA479965400HOTAIR,HOXC11c.561G>A (p.Ser187=)
n.59+1096C>T
dbSNP gnomAD v3 gnomAD v4
12g.53973802G>CCA479965401HOTAIR,HOXC11c.561G>C (p.Ser187=)
n.59+1096C>G
12g.53973802G=CA2037241235HOTAIR,HOXC11c.561G= (p.Ser187=)
n.59+1096C=
12g.53973802G>TCA479965402HOTAIR,HOXC11c.561G>T (p.Ser187=)
n.59+1096C>A
gnomAD v4
12g.53973802_53973804dupCA1139770303HOTAIR,HOXC11c.561_563dup (p.Gly188_Leu189insGly)
n.59+1094_59+1096dup
12g.53973803G>ACA385105506HOTAIR,HOXC11c.562G>A (p.Gly188Arg)
n.59+1095C>T
12g.53973803G>CCA385105508HOTAIR,HOXC11c.562G>C (p.Gly188Arg)
n.59+1095C>G
12g.53973803G>TCA385105510HOTAIR,HOXC11c.562G>T (p.Gly188Ter)
n.59+1095C>A
12g.53973804G>ACA385105514HOTAIR,HOXC11c.563G>A (p.Gly188Glu)
n.59+1094C>T
12g.53973804G>CCA385105515HOTAIR,HOXC11c.563G>C (p.Gly188Ala)
n.59+1094C>G
12g.53973804G=CA2037241237HOTAIR,HOXC11c.563G= (p.Gly188=)
n.59+1094C=
12g.53973804G>TCA385105517HOTAIR,HOXC11c.563G>T (p.Gly188Val)
n.59+1094C>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.53973805A>CCA479965403HOTAIR,HOXC11c.564A>C (p.Gly188=)
n.59+1093T>G
gnomAD v3 gnomAD v4
12g.53973805A>GCA479965404HOTAIR,HOXC11c.564A>G (p.Gly188=)
n.59+1093T>C
gnomAD v4
12g.53973805A>TCA479965405HOTAIR,HOXC11c.564A>T (p.Gly188=)
n.59+1093T>A
12g.53973805_53973807delCA1139655184HOTAIR,HOXC11c.564_566del (p.Leu189del)
n.59+1091_59+1093del
gnomAD v4
12g.53973805_53973815delCA2796041907HOTAIR,HOXC11c.564_574del (p.Leu189GlyfsTer2)
n.59+1083_59+1093del
12g.53973806C>ACA385105520HOTAIR,HOXC11c.565C>A (p.Leu189Met)
n.59+1092G>T
12g.53973806C>GCA385105521HOTAIR,HOXC11c.565C>G (p.Leu189Val)
n.59+1092G>C
12g.53973806C>TCA479965406HOTAIR,HOXC11c.565C>T (p.Leu189=)
n.59+1092G>A
12g.53973806_53973825delCA2619096609HOTAIR,HOXC11c.565_584del (p.Leu189GlyfsTer7)
n.59+1073_59+1092del
gnomAD v4
12g.53973806_53973807insGCA2619096613HOTAIR,HOXC11c.565_566insG (p.Leu189ArgfsTer6)
n.59+1091_59+1092insC
gnomAD v4
12g.53973807T>ACA385105526HOTAIR,HOXC11c.566T>A (p.Leu189Gln)
n.59+1091A>T
gnomAD v3 gnomAD v4
12g.53973807T>CCA6604270HOTAIR,HOXC11c.566T>C (p.Leu189Pro)
n.59+1091A>G
dbSNP ExAC gnomAD v2 gnomAD v4
12g.53973807T>GCA385105528HOTAIR,HOXC11c.566T>G (p.Leu189Arg)
n.59+1091A>C
gnomAD v4
12g.53973807T=CA2037241239HOTAIR,HOXC11c.566T= (p.Leu189=)
n.59+1091A=
12g.53973808G>ACA479965408HOTAIR,HOXC11c.567G>A (p.Leu189=)
n.59+1090C>T
gnomAD v4
12g.53973808G>CCA479965409HOTAIR,HOXC11c.567G>C (p.Leu189=)
n.59+1090C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.53973808G=CA2037241242HOTAIR,HOXC11c.567G= (p.Leu189=)
n.59+1090C=
12g.53973808G>TCA479965407HOTAIR,HOXC11c.567G>T (p.Leu189=)
n.59+1090C>A
12g.53973809dupCA2619096617HOTAIR,HOXC11c.568dup (p.Ala190GlyfsTer5)
n.59+1090dup
gnomAD v4
12g.53973809G>ACA385105531HOTAIR,HOXC11c.568G>A (p.Ala190Thr)
n.59+1089C>T
dbSNP gnomAD v3 gnomAD v4
12g.53973809G>CCA385105533HOTAIR,HOXC11c.568G>C (p.Ala190Pro)
n.59+1089C>G
12g.53973809G=CA2037241244HOTAIR,HOXC11c.568G= (p.Ala190=)
n.59+1089C=
12g.53973809G>TCA385105536HOTAIR,HOXC11c.568G>T (p.Ala190Ser)
n.59+1089C>A
gnomAD v4
12g.53973810C>ACA385105545HOTAIR,HOXC11c.569C>A (p.Ala190Glu)
n.59+1088G>T
dbSNP gnomAD v2 gnomAD v4
12g.53973810C=CA2037241246HOTAIR,HOXC11c.569C= (p.Ala190=)
n.59+1088G=
12g.53973810C>GCA385105543HOTAIR,HOXC11c.569C>G (p.Ala190Gly)
n.59+1088G>C
ClinVar gnomAD v4
12g.53973810C>TCA385105541HOTAIR,HOXC11c.569C>T (p.Ala190Val)
n.59+1088G>A
gnomAD v4
12g.53973810_53973815delCA1139655183HOTAIR,HOXC11c.569_574del (p.Ala190_Arg192delinsGly)
n.59+1083_59+1088del
gnomAD v4
12g.53973811G>ACA479965412HOTAIR,HOXC11c.570G>A (p.Ala190=)
n.59+1087C>T
gnomAD v4
12g.53973811G>CCA479965410HOTAIR,HOXC11c.570G>C (p.Ala190=)
n.59+1087C>G
12g.53973811G>TCA479965411HOTAIR,HOXC11c.570G>T (p.Ala190=)
n.59+1087C>A
12g.53973812T>ACA385105550HOTAIR,HOXC11c.571T>A (p.Ser191Thr)
n.59+1086A>T
12g.53973812T>CCA385105549HOTAIR,HOXC11c.571T>C (p.Ser191Pro)
n.59+1086A>G
12g.53973812T>GCA385105553HOTAIR,HOXC11c.571T>G (p.Ser191Ala)
n.59+1086A>C
gnomAD v3 gnomAD v4
12g.53973812_53973815delCA2619096633HOTAIR,HOXC11c.571_574del (p.Ser191GlyfsTer?)
n.59+1083_59+1086del
gnomAD v4
12g.53973813C>ACA385105557HOTAIR,HOXC11c.572C>A (p.Ser191Tyr)
n.59+1085G>T
12g.53973813C=CA2037241249HOTAIR,HOXC11c.572C= (p.Ser191=)
n.59+1085G=
12g.53973813C>GCA385105559HOTAIR,HOXC11c.572C>G (p.Ser191Cys)
n.59+1085G>C
gnomAD v4
12g.53973813C>TCA6604271HOTAIR,HOXC11c.572C>T (p.Ser191Phe)
n.59+1085G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.53973814C>ACA479965414HOTAIR,HOXC11c.573C>A (p.Ser191=)
n.59+1084G>T
gnomAD v4
12g.53973814C=CA2037241251HOTAIR,HOXC11c.573C= (p.Ser191=)
n.59+1084G=
12g.53973814C>GCA6604272HOTAIR,HOXC11c.573C>G (p.Ser191=)
n.59+1084G>C
dbSNP ExAC gnomAD v2 gnomAD v4
12g.53973814C>TCA479965413HOTAIR,HOXC11c.573C>T (p.Ser191=)
n.59+1084G>A
12g.53973815C>ACA237398059HOTAIR,HOXC11c.574C>A (p.Arg192=)
n.59+1083G>T
dbSNP gnomAD v3 gnomAD v4
12g.53973815C=CA2037241255HOTAIR,HOXC11c.574C= (p.Arg192=)
n.59+1083G=
12g.53973815C>GCA6604273HOTAIR,HOXC11c.574C>G (p.Arg192Gly)
n.59+1083G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.53973815C>TCA6604274HOTAIR,HOXC11c.574C>T (p.Arg192Trp)
n.59+1083G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.53973816G>ACA385105570HOTAIR,HOXC11c.575G>A (p.Arg192Gln)
n.59+1082C>T
12g.53973816G>CCA385105571HOTAIR,HOXC11c.575G>C (p.Arg192Pro)
n.59+1082C>G
gnomAD v3 gnomAD v4
12g.53973816G>TCA385105572HOTAIR,HOXC11c.575G>T (p.Arg192Leu)
n.59+1082C>A
gnomAD v4
12g.53973817G>ACA479965415HOTAIR,HOXC11c.576G>A (p.Arg192=)
n.59+1081C>T
dbSNP gnomAD v2 gnomAD v4
12g.53973817G>CCA479965416HOTAIR,HOXC11c.576G>C (p.Arg192=)
n.59+1081C>G
dbSNP gnomAD v3 gnomAD v4
12g.53973817G=CA2037241257HOTAIR,HOXC11c.576G= (p.Arg192=)
n.59+1081C=
12g.53973817G>TCA479965417HOTAIR,HOXC11c.576G>T (p.Arg192=)
n.59+1081C>A
gnomAD v4
12g.53973818G>ACA385105573HOTAIR,HOXC11c.577G>A (p.Ala193Thr)
n.59+1080C>T
12g.53973818G>CCA385105575HOTAIR,HOXC11c.577G>C (p.Ala193Pro)
n.59+1080C>G
12g.53973818G>TCA385105576HOTAIR,HOXC11c.577G>T (p.Ala193Ser)
n.59+1080C>A
12g.53973819C>ACA385105580HOTAIR,HOXC11c.578C>A (p.Ala193Asp)
n.59+1079G>T
gnomAD v4
12g.53973819C>GCA385105581HOTAIR,HOXC11c.578C>G (p.Ala193Gly)
n.59+1079G>C
12g.53973819C>TCA385105582HOTAIR,HOXC11c.578C>T (p.Ala193Val)
n.59+1079G>A
12g.53973819_53973820delCA1139770131HOTAIR,HOXC11c.578_579del (p.Ala193GlyfsTer9)
n.59+1078_59+1079del
gnomAD v4
12g.53973819_53973822delCA2619096654HOTAIR,HOXC11c.578_581del (p.Ala193GlyfsTer?)
n.59+1076_59+1079del
gnomAD v4
12g.53973819_53973825delCA1139655190HOTAIR,HOXC11c.578_584del (p.Ala193GlyfsTer?)
n.59+1073_59+1079del
12g.53973820T>ACA479965420HOTAIR,HOXC11c.579T>A (p.Ala193=)
n.59+1078A>T
12g.53973820T>CCA479965419HOTAIR,HOXC11c.579T>C (p.Ala193=)
n.59+1078A>G
12g.53973820T>GCA479965418HOTAIR,HOXC11c.579T>G (p.Ala193=)
n.59+1078A>C
gnomAD v4
12g.53973821G>ACA385105587HOTAIR,HOXC11c.580G>A (p.Glu194Lys)
n.59+1077C>T
dbSNP gnomAD v2 COSMIC
12g.53973821G>CCA385105585HOTAIR,HOXC11c.580G>C (p.Glu194Gln)
n.59+1077C>G
12g.53973821G=CA2037241259HOTAIR,HOXC11c.580G= (p.Glu194=)
n.59+1077C=
12g.53973821G>TCA385105584HOTAIR,HOXC11c.580G>T (p.Glu194Ter)
n.59+1077C>A
gnomAD v4
12g.53973826_53973843delCA2619096664HOTAIR,HOXC11c.585_602del (p.Gly196_Ala201del)
n.59+1060_59+1077del
gnomAD v4
12g.53973822A>CCA385105590HOTAIR,HOXC11c.581A>C (p.Glu194Ala)
n.59+1076T>G
12g.53973822A>GCA385105592HOTAIR,HOXC11c.581A>G (p.Glu194Gly)
n.59+1076T>C
gnomAD v4
12g.53973822A>TCA385105593HOTAIR,HOXC11c.581A>T (p.Glu194Val)
n.59+1076T>A
12g.53973823G>ACA6604275HOTAIR,HOXC11c.582G>A (p.Glu194=)
n.59+1075C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.53973823G>CCA385105602HOTAIR,HOXC11c.582G>C (p.Glu194Asp)
n.59+1075C>G
12g.53973823G=CA2037241262HOTAIR,HOXC11c.582G= (p.Glu194=)
n.59+1075C=
12g.53973823G>TCA385105603HOTAIR,HOXC11c.582G>T (p.Glu194Asp)
n.59+1075C>A
12g.53973824G>ACA385105607HOTAIR,HOXC11c.583G>A (p.Ala195Thr)
n.59+1074C>T
dbSNP gnomAD v3 gnomAD v4
12g.53973824G>CCA385105608HOTAIR,HOXC11c.583G>C (p.Ala195Pro)
n.59+1074C>G
gnomAD v4
12g.53973824G=CA2037241264HOTAIR,HOXC11c.583G= (p.Ala195=)
n.59+1074C=
12g.53973824G>TCA385105610HOTAIR,HOXC11c.583G>T (p.Ala195Ser)
n.59+1074C>A
gnomAD v4
12g.53973825C>ACA6604277HOTAIR,HOXC11c.584C>A (p.Ala195Glu)
n.59+1073G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.53973825C=CA2037241265HOTAIR,HOXC11c.584C= (p.Ala195=)
n.59+1073G=
12g.53973825C>GCA385105613HOTAIR,HOXC11c.584C>G (p.Ala195Gly)
n.59+1073G>C
gnomAD v4
12g.53973825C>TCA6604276HOTAIR,HOXC11c.584C>T (p.Ala195Val)
n.59+1073G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.53973826G>ACA479965421HOTAIR,HOXC11c.585G>A (p.Ala195=)
n.59+1072C>T
12g.53973826G>CCA479965422HOTAIR,HOXC11c.585G>C (p.Ala195=)
n.59+1072C>G
12g.53973826G>TCA479965423HOTAIR,HOXC11c.585G>T (p.Ala195=)
n.59+1072C>A
12g.53973827G>ACA385105622HOTAIR,HOXC11c.586G>A (p.Gly196Ser)
n.59+1071C>T
12g.53973827G>CCA385105620HOTAIR,HOXC11c.586G>C (p.Gly196Arg)
n.59+1071C>G
12g.53973827G>TCA385105617HOTAIR,HOXC11c.586G>T (p.Gly196Cys)
n.59+1071C>A
gnomAD v4
12g.53973828G>ACA6604278HOTAIR,HOXC11c.587G>A (p.Gly196Asp)
n.59+1070C>T
dbSNP ExAC gnomAD v2 gnomAD v4
12g.53973828G>CCA385105625HOTAIR,HOXC11c.587G>C (p.Gly196Ala)
n.59+1070C>G
12g.53973828G=CA2037241267HOTAIR,HOXC11c.587G= (p.Gly196=)
n.59+1070C=
12g.53973828G>TCA385105627HOTAIR,HOXC11c.587G>T (p.Gly196Val)
n.59+1070C>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.53973829T>ACA479965424HOTAIR,HOXC11c.588T>A (p.Gly196=)
n.59+1069A>T
12g.53973829T>CCA479965425HOTAIR,HOXC11c.588T>C (p.Gly196=)
n.59+1069A>G
12g.53973829T>GCA479965426HOTAIR,HOXC11c.588T>G (p.Gly196=)
n.59+1069A>C
dbSNP
12g.53973829T=CA2037241269HOTAIR,HOXC11c.588T= (p.Gly196=)
n.59+1069A=
12g.53973830G>ACA6604279HOTAIR,HOXC11c.589G>A (p.Ala197Thr)
n.59+1068C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.53973830G>CCA385105635HOTAIR,HOXC11c.589G>C (p.Ala197Pro)
n.59+1068C>G
12g.53973830G=CA2037241271HOTAIR,HOXC11c.589G= (p.Ala197=)
n.59+1068C=
12g.53973830G>TCA385105637HOTAIR,HOXC11c.589G>T (p.Ala197Ser)
n.59+1068C>A
gnomAD v4
12g.53973831C>ACA385105639HOTAIR,HOXC11c.590C>A (p.Ala197Asp)
n.59+1067G>T
gnomAD v4
12g.53973831C=CA2037241273HOTAIR,HOXC11c.590C= (p.Ala197=)
n.59+1067G=
12g.53973831C>GCA385105642HOTAIR,HOXC11c.590C>G (p.Ala197Gly)
n.59+1067G>C
12g.53973831C>TCA385105643HOTAIR,HOXC11c.590C>T (p.Ala197Val)
n.59+1067G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.53973832C>ACA479965427HOTAIR,HOXC11c.591C>A (p.Ala197=)
n.59+1066G>T
12g.53973832C=CA2037241274HOTAIR,HOXC11c.591C= (p.Ala197=)
n.59+1066G=
12g.53973832C>GCA479965428HOTAIR,HOXC11c.591C>G (p.Ala197=)
n.59+1066G>C
12g.53973832C>TCA479965429HOTAIR,HOXC11c.591C>T (p.Ala197=)
n.59+1066G>A
dbSNP gnomAD v2 gnomAD v4
12g.53973833G>ACA385105647HOTAIR,HOXC11c.592G>A (p.Glu198Lys)
n.59+1065C>T
gnomAD v4
12g.53973833G>CCA385105648HOTAIR,HOXC11c.592G>C (p.Glu198Gln)
n.59+1065C>G
gnomAD v4
12g.53973833G>TCA385105650HOTAIR,HOXC11c.592G>T (p.Glu198Ter)
n.59+1065C>A
12g.53973838_53973843dupCA2037241276HOTAIR,HOXC11c.597_602dup (p.Ala201_Glu202insGluAla)
n.59+1060_59+1065dup
dbSNP
12g.53973834A>CCA385105657HOTAIR,HOXC11c.593A>C (p.Glu198Ala)
n.59+1064T>G
12g.53973834A>GCA385105653HOTAIR,HOXC11c.593A>G (p.Glu198Gly)
n.59+1064T>C
gnomAD v4
12g.53973834A>TCA385105656HOTAIR,HOXC11c.593A>T (p.Glu198Val)
n.59+1064T>A
12g.53973835G>ACA479965430HOTAIR,HOXC11c.594G>A (p.Glu198=)
n.59+1063C>T
12g.53973835G>CCA385105659HOTAIR,HOXC11c.594G>C (p.Glu198Asp)
n.59+1063C>G
12g.53973835G>TCA385105660HOTAIR,HOXC11c.594G>T (p.Glu198Asp)
n.59+1063C>A
12g.53973836G>ACA385105664HOTAIR,HOXC11c.595G>A (p.Ala199Thr)
n.59+1062C>T
gnomAD v4
12g.53973836G>CCA385105667HOTAIR,HOXC11c.595G>C (p.Ala199Pro)
n.59+1062C>G
12g.53973836G>TCA385105669HOTAIR,HOXC11c.595G>T (p.Ala199Ser)
n.59+1062C>A
gnomAD v4
12g.53973837C>ACA385105672HOTAIR,HOXC11c.596C>A (p.Ala199Glu)
n.59+1061G>T
dbSNP
12g.53973837C=CA2037241278HOTAIR,HOXC11c.596C= (p.Ala199=)
n.59+1061G=
12g.53973837C>GCA385105674HOTAIR,HOXC11c.596C>G (p.Ala199Gly)
n.59+1061G>C
12g.53973837C>TCA385105676HOTAIR,HOXC11c.596C>T (p.Ala199Val)
n.59+1061G>A
dbSNP gnomAD v2 gnomAD v4
12g.53973838G>ACA479965431HOTAIR,HOXC11c.597G>A (p.Ala199=)
n.59+1060C>T
12g.53973838G>CCA479965432HOTAIR,HOXC11c.597G>C (p.Ala199=)
n.59+1060C>G
12g.53973838G>TCA479965433HOTAIR,HOXC11c.597G>T (p.Ala199=)
n.59+1060C>A
gnomAD v4
12g.53973838_53973844delinsGGAGGCTCA2037241280HOTAIR,HOXC11c.597_603delinsGGAGGCT (p.Ala199=)
n.59+1054_59+1060delinsAGCCTCC
12g.53973839G>ACA385105679HOTAIR,HOXC11c.598G>A (p.Glu200Lys)
n.59+1059C>T
12g.53973839G>CCA385105682HOTAIR,HOXC11c.598G>C (p.Glu200Gln)
n.59+1059C>G
dbSNP gnomAD v2
12g.53973839G=CA2037241283HOTAIR,HOXC11c.598G= (p.Glu200=)
n.59+1059C=
12g.53973839G>TCA385105683HOTAIR,HOXC11c.598G>T (p.Glu200Ter)
n.59+1059C>A
12g.53973843_53973848delCA2037241282HOTAIR,HOXC11c.602_607del (p.Ala201_Glu202del)
n.59+1054_59+1059del
dbSNP
12g.53973840A=CA2037241285HOTAIR,HOXC11c.599A= (p.Glu200=)
n.59+1058T=
12g.53973840A>CCA385105691HOTAIR,HOXC11c.599A>C (p.Glu200Ala)
n.59+1058T>G
dbSNP
12g.53973840A>GCA385105688HOTAIR,HOXC11c.599A>G (p.Glu200Gly)
n.59+1058T>C
12g.53973840A>TCA385105686HOTAIR,HOXC11c.599A>T (p.Glu200Val)
n.59+1058T>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.53973841G>ACA479965434HOTAIR,HOXC11c.600G>A (p.Glu200=)
n.59+1057C>T
12g.53973841G>CCA385105693HOTAIR,HOXC11c.600G>C (p.Glu200Asp)
n.59+1057C>G
12g.53973841G>TCA385105695HOTAIR,HOXC11c.600G>T (p.Glu200Asp)
n.59+1057C>A
12g.53973842G>ACA385105699HOTAIR,HOXC11c.601G>A (p.Ala201Thr)
n.59+1056C>T
dbSNP
12g.53973842G>CCA385105700HOTAIR,HOXC11c.601G>C (p.Ala201Pro)
n.59+1056C>G
12g.53973842G=CA2037241287HOTAIR,HOXC11c.601G= (p.Ala201=)
n.59+1056C=
12g.53973842G>TCA385105701HOTAIR,HOXC11c.601G>T (p.Ala201Ser)
n.59+1056C>A
gnomAD v4
12g.53973843C>ACA385105704HOTAIR,HOXC11c.602C>A (p.Ala201Asp)
n.59+1055G>T
gnomAD v4
12g.53973843C>GCA385105706HOTAIR,HOXC11c.602C>G (p.Ala201Gly)
n.59+1055G>C
12g.53973843C>TCA385105708HOTAIR,HOXC11c.602C>T (p.Ala201Val)
n.59+1055G>A
gnomAD v4
12g.53973844T>ACA479965435HOTAIR,HOXC11c.603T>A (p.Ala201=)
n.59+1054A>T
12g.53973844T>CCA479965436HOTAIR,HOXC11c.603T>C (p.Ala201=)
n.59+1054A>G
12g.53973844T>GCA237398072HOTAIR,HOXC11c.603T>G (p.Ala201=)
n.59+1054A>C
dbSNP
12g.53973844T=CA2037241290HOTAIR,HOXC11c.603T= (p.Ala201=)
n.59+1054A=
12g.53973844_53973847delinsTGAGCA2037241289HOTAIR,HOXC11c.603_606delinsTGAG (p.Ala201=)
n.59+1051_59+1054delinsCTCA
12g.53973845G>ACA385105720HOTAIR,HOXC11c.604G>A (p.Glu202Lys)
n.59+1053C>T
12g.53973845G>CCA385105718HOTAIR,HOXC11c.604G>C (p.Glu202Gln)
n.59+1053C>G
12g.53973845G>TCA385105723HOTAIR,HOXC11c.604G>T (p.Glu202Ter)
n.59+1053C>A
12g.53973851_53973853delCA6604280HOTAIR,HOXC11c.610_612del (p.Glu204del)
n.59+1051_59+1053del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.53973846A=CA2037241294HOTAIR,HOXC11c.605A= (p.Glu202=)
n.59+1052T=
12g.53973846A>CCA385105725HOTAIR,HOXC11c.605A>C (p.Glu202Ala)
n.59+1052T>G
12g.53973846A>GCA385105727HOTAIR,HOXC11c.605A>G (p.Glu202Gly)
n.59+1052T>C
dbSNP gnomAD v4
12g.53973846A>TCA385105729HOTAIR,HOXC11c.605A>T (p.Glu202Val)
n.59+1052T>A
12g.53973847G>ACA479965437HOTAIR,HOXC11c.606G>A (p.Glu202=)
n.59+1051C>T
dbSNP gnomAD v4
12g.53973847G>CCA385105733HOTAIR,HOXC11c.606G>C (p.Glu202Asp)
n.59+1051C>G
12g.53973847G=CA2037241298HOTAIR,HOXC11c.606G= (p.Glu202=)
n.59+1051C=
12g.53973847G>TCA385105734HOTAIR,HOXC11c.606G>T (p.Glu202Asp)
n.59+1051C>A
gnomAD v4 COSMIC
12g.53973848G>ACA385105742HOTAIR,HOXC11c.607G>A (p.Glu203Lys)
n.59+1050C>T
gnomAD v4
12g.53973848G>CCA385105739HOTAIR,HOXC11c.607G>C (p.Glu203Gln)
n.59+1050C>G
12g.53973848G>TCA385105736HOTAIR,HOXC11c.607G>T (p.Glu203Ter)
n.59+1050C>A
12g.53973849A>CCA385105746HOTAIR,HOXC11c.608A>C (p.Glu203Ala)
n.59+1049T>G
12g.53973849A>GCA385105747HOTAIR,HOXC11c.608A>G (p.Glu203Gly)
n.59+1049T>C
12g.53973849A>TCA385105750HOTAIR,HOXC11c.608A>T (p.Glu203Val)
n.59+1049T>A
12g.53973850G>ACA479965438HOTAIR,HOXC11c.609G>A (p.Glu203=)
n.59+1048C>T
gnomAD v4
12g.53973850G>CCA385105753HOTAIR,HOXC11c.609G>C (p.Glu203Asp)
n.59+1048C>G
12g.53973850G>TCA385105755HOTAIR,HOXC11c.609G>T (p.Glu203Asp)
n.59+1048C>A
12g.53973851G>ACA6604281HOTAIR,HOXC11c.610G>A (p.Glu204Lys)
n.59+1047C>T
dbSNP ExAC gnomAD v2 gnomAD v4
12g.53973851G>CCA385105758HOTAIR,HOXC11c.610G>C (p.Glu204Gln)
n.59+1047C>G
12g.53973851G=CA2037241302HOTAIR,HOXC11c.610G= (p.Glu204=)
n.59+1047C=
12g.53973851G>TCA385105761HOTAIR,HOXC11c.610G>T (p.Glu204Ter)
n.59+1047C>A
gnomAD v4
12g.53973852A>CCA385105762HOTAIR,HOXC11c.611A>C (p.Glu204Ala)
n.59+1046T>G
12g.53973852A>GCA385105766HOTAIR,HOXC11c.611A>G (p.Glu204Gly)
n.59+1046T>C
12g.53973852A>TCA385105765HOTAIR,HOXC11c.611A>T (p.Glu204Val)
n.59+1046T>A
12g.53973853G>ACA479965439HOTAIR,HOXC11c.612G>A (p.Glu204=)
n.59+1045C>T
12g.53973853G>CCA385105768HOTAIR,HOXC11c.612G>C (p.Glu204Asp)
n.59+1045C>G
12g.53973853G>TCA385105769HOTAIR,HOXC11c.612G>T (p.Glu204Asp)
n.59+1045C>A
gnomAD v4
12g.53973854A>CCA385105770HOTAIR,HOXC11c.613A>C (p.Asn205His)
n.59+1044T>G
12g.53973854A>GCA385105771HOTAIR,HOXC11c.613A>G (p.Asn205Asp)
n.59+1044T>C
12g.53973854A>TCA385105772HOTAIR,HOXC11c.613A>T (p.Asn205Tyr)
n.59+1044T>A
12g.53973855A>CCA385105774HOTAIR,HOXC11c.614A>C (p.Asn205Thr)
n.59+1043T>G
12g.53973855A>GCA385105775HOTAIR,HOXC11c.614A>G (p.Asn205Ser)
n.59+1043T>C
12g.53973855A>TCA385105776HOTAIR,HOXC11c.614A>T (p.Asn205Ile)
n.59+1043T>A
12g.53973856C>ACA385105778HOTAIR,HOXC11c.615C>A (p.Asn205Lys)
n.59+1042G>T
gnomAD v4
12g.53973856C=CA2037241305HOTAIR,HOXC11c.615C= (p.Asn205=)
n.59+1042G=
12g.53973856C>GCA385105779HOTAIR,HOXC11c.615C>G (p.Asn205Lys)
n.59+1042G>C
12g.53973856C>TCA479965440HOTAIR,HOXC11c.615C>T (p.Asn205=)
n.59+1042G>A
dbSNP gnomAD v4
12g.53973857A>CCA385105780HOTAIR,HOXC11c.616A>C (p.Thr206Pro)
n.59+1041T>G
12g.53973857A>GCA385105781HOTAIR,HOXC11c.616A>G (p.Thr206Ala)
n.59+1041T>C
12g.53973857A>TCA385105782HOTAIR,HOXC11c.616A>T (p.Thr206Ser)
n.59+1041T>A
12g.53973858C>ACA385105783HOTAIR,HOXC11c.617C>A (p.Thr206Lys)
n.59+1040G>T
12g.53973858C=CA2037241309HOTAIR,HOXC11c.617C= (p.Thr206=)
n.59+1040G=
12g.53973858C>GCA385105785HOTAIR,HOXC11c.617C>G (p.Thr206Arg)
n.59+1040G>C
dbSNP
12g.53973858C>TCA385105784HOTAIR,HOXC11c.617C>T (p.Thr206Ile)
n.59+1040G>A
12g.53973859A>CCA479965443HOTAIR,HOXC11c.618A>C (p.Thr206=)
n.59+1039T>G
12g.53973859A>GCA479965441HOTAIR,HOXC11c.618A>G (p.Thr206=)
n.59+1039T>C
gnomAD v4
12g.53973859A>TCA479965442HOTAIR,HOXC11c.618A>T (p.Thr206=)
n.59+1039T>A
12g.53973860A>CCA385105789HOTAIR,HOXC11c.619A>C (p.Asn207His)
n.59+1038T>G
12g.53973860A>GCA385105790HOTAIR,HOXC11c.619A>G (p.Asn207Asp)
n.59+1038T>C
12g.53973860A>TCA385105791HOTAIR,HOXC11c.619A>T (p.Asn207Tyr)
n.59+1038T>A
COSMIC
12g.53973861A>CCA385105793HOTAIR,HOXC11c.620A>C (p.Asn207Thr)
n.59+1037T>G
12g.53973861A>GCA385105796HOTAIR,HOXC11c.620A>G (p.Asn207Ser)
n.59+1037T>C
12g.53973861A>TCA385105798HOTAIR,HOXC11c.620A>T (p.Asn207Ile)
n.59+1037T>A
12g.53973862T>ACA385105800HOTAIR,HOXC11c.621T>A (p.Asn207Lys)
n.59+1036A>T
12g.53973862T>CCA479965444HOTAIR,HOXC11c.621T>C (p.Asn207=)
n.59+1036A>G
12g.53973862T>GCA385105802HOTAIR,HOXC11c.621T>G (p.Asn207Lys)
n.59+1036A>C
12g.53973863C>ACA385105805HOTAIR,HOXC11c.622C>A (p.Pro208Thr)
n.59+1035G>T
gnomAD v4
12g.53973863C=CA2037241312HOTAIR,HOXC11c.622C= (p.Pro208=)
n.59+1035G=
12g.53973863C>GCA385105807HOTAIR,HOXC11c.622C>G (p.Pro208Ala)
n.59+1035G>C
12g.53973863C>TCA237398078HOTAIR,HOXC11c.622C>T (p.Pro208Ser)
n.59+1035G>A
dbSNP
12g.53973864C>ACA385105815HOTAIR,HOXC11c.623C>A (p.Pro208His)
n.59+1034G>T
12g.53973864C>GCA385105817HOTAIR,HOXC11c.623C>G (p.Pro208Arg)
n.59+1034G>C
12g.53973864C>TCA385105813HOTAIR,HOXC11c.623C>T (p.Pro208Leu)
n.59+1034G>A
12g.53973865C>ACA479965445HOTAIR,HOXC11c.624C>A (p.Pro208=)
n.59+1033G>T
gnomAD v4
12g.53973865C>GCA479965446HOTAIR,HOXC11c.624C>G (p.Pro208=)
n.59+1033G>C
12g.53973865C>TCA479965447HOTAIR,HOXC11c.624C>T (p.Pro208=)
n.59+1033G>A
12g.53973866A>CCA385105821HOTAIR,HOXC11c.625A>C (p.Ser209Arg)
n.59+1032T>G
12g.53973866A>GCA385105823HOTAIR,HOXC11c.625A>G (p.Ser209Gly)
n.59+1032T>C
12g.53973866A>TCA385105825HOTAIR,HOXC11c.625A>T (p.Ser209Cys)
n.59+1032T>A
gnomAD v4
12g.53973867G>ACA385105827HOTAIR,HOXC11c.626G>A (p.Ser209Asn)
n.59+1031C>T
12g.53973867G>CCA385105830HOTAIR,HOXC11c.626G>C (p.Ser209Thr)
n.59+1031C>G
12g.53973867G=CA2037241315HOTAIR,HOXC11c.626G= (p.Ser209=)
n.59+1031C=
12g.53973867G>TCA385105832HOTAIR,HOXC11c.626G>T (p.Ser209Ile)
n.59+1031C>A
dbSNP gnomAD v4
12g.53973868C>ACA385105839HOTAIR,HOXC11c.627C>A (p.Ser209Arg)
n.59+1030G>T
gnomAD v4
12g.53973868C>GCA385105836HOTAIR,HOXC11c.627C>G (p.Ser209Arg)
n.59+1030G>C
gnomAD v4
12g.53973868C>TCA479965448HOTAIR,HOXC11c.627C>T (p.Ser209=)
n.59+1030G>A
gnomAD v4
12g.53973869T>ACA385105842HOTAIR,HOXC11c.628T>A (p.Ser210Thr)
n.59+1029A>T
12g.53973869T>CCA385105843HOTAIR,HOXC11c.628T>C (p.Ser210Pro)
n.59+1029A>G
12g.53973869T>GCA385105846HOTAIR,HOXC11c.628T>G (p.Ser210Ala)
n.59+1029A>C

Number of alleles fetched