Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.53973737C>ACA385105139HOTAIR,HOXC11c.496C>A (p.Pro166Thr)
n.59+1161G>T
12g.53973737C>GCA385105140HOTAIR,HOXC11c.496C>G (p.Pro166Ala)
n.59+1161G>C
12g.53973737C>TCA385105144HOTAIR,HOXC11c.496C>T (p.Pro166Ser)
n.59+1161G>A
12g.53973738C>ACA385105147HOTAIR,HOXC11c.497C>A (p.Pro166His)
n.59+1160G>T
12g.53973738C=CA2037241127HOTAIR,HOXC11c.497C= (p.Pro166=)
n.59+1160G=
12g.53973738C>GCA385105149HOTAIR,HOXC11c.497C>G (p.Pro166Arg)
n.59+1160G>C
dbSNP
12g.53973738C>TCA385105152HOTAIR,HOXC11c.497C>T (p.Pro166Leu)
n.59+1160G>A
dbSNP gnomAD v2 gnomAD v4
12g.53973739C>ACA6604254HOTAIR,HOXC11c.498C>A (p.Pro166=)
n.59+1159G>T
dbSNP ExAC gnomAD v2 gnomAD v4
12g.53973739C=CA2037241129HOTAIR,HOXC11c.498C= (p.Pro166=)
n.59+1159G=
12g.53973739C>GCA480090817HOTAIR,HOXC11c.498C>G (p.Pro166=)
n.59+1159G>C
12g.53973739C>TCA480090818HOTAIR,HOXC11c.498C>T (p.Pro166=)
n.59+1159G>A
gnomAD v4 COSMIC
12g.53973740G>ACA385105160HOTAIR,HOXC11c.499G>A (p.Ala167Thr)
n.59+1158C>T
dbSNP gnomAD v2 gnomAD v4
12g.53973740G>CCA385105163HOTAIR,HOXC11c.499G>C (p.Ala167Pro)
n.59+1158C>G
12g.53973740G=CA2037241130HOTAIR,HOXC11c.499G= (p.Ala167=)
n.59+1158C=
12g.53973740G>TCA385105158HOTAIR,HOXC11c.499G>T (p.Ala167Ser)
n.59+1158C>A
dbSNP gnomAD v3 gnomAD v4
12g.53973741C>ACA385105167HOTAIR,HOXC11c.500C>A (p.Ala167Asp)
n.59+1157G>T
12g.53973741C>GCA385105169HOTAIR,HOXC11c.500C>G (p.Ala167Gly)
n.59+1157G>C
12g.53973741C>TCA385105172HOTAIR,HOXC11c.500C>T (p.Ala167Val)
n.59+1157G>A
12g.53973741_53973742insACCAAACA2796041906HOTAIR,HOXC11c.500_501insACCAAA (p.Ala167_Glu168insProAsn)
n.59+1156_59+1157insTTTGGT
12g.53973742C>ACA480090819HOTAIR,HOXC11c.501C>A (p.Ala167=)
n.59+1156G>T
12g.53973742C>GCA480090820HOTAIR,HOXC11c.501C>G (p.Ala167=)
n.59+1156G>C
12g.53973742C>TCA480090821HOTAIR,HOXC11c.501C>T (p.Ala167=)
n.59+1156G>A
12g.53973743G>ACA6604255HOTAIR,HOXC11c.502G>A (p.Glu168Lys)
n.59+1155C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.53973743G>CCA385105175HOTAIR,HOXC11c.502G>C (p.Glu168Gln)
n.59+1155C>G
12g.53973743G=CA2037241133HOTAIR,HOXC11c.502G= (p.Glu168=)
n.59+1155C=
12g.53973743G>TCA385105178HOTAIR,HOXC11c.502G>T (p.Glu168Ter)
n.59+1155C>A
12g.53973744A>CCA385105185HOTAIR,HOXC11c.503A>C (p.Glu168Ala)
n.59+1154T>G
12g.53973744A>GCA385105182HOTAIR,HOXC11c.503A>G (p.Glu168Gly)
n.59+1154T>C
12g.53973744A>TCA385105184HOTAIR,HOXC11c.503A>T (p.Glu168Val)
n.59+1154T>A
12g.53973745G>ACA479965361HOTAIR,HOXC11c.504G>A (p.Glu168=)
n.59+1153C>T
12g.53973745G>CCA385105187HOTAIR,HOXC11c.504G>C (p.Glu168Asp)
n.59+1153C>G
gnomAD v4
12g.53973745G=CA2037241134HOTAIR,HOXC11c.504G= (p.Glu168=)
n.59+1153C=
12g.53973745G>TCA385105190HOTAIR,HOXC11c.504G>T (p.Glu168Asp)
n.59+1153C>A
dbSNP
12g.53973745_53973746delinsGCCA2037241135HOTAIR,HOXC11c.504_505delinsGC (p.Glu168=)
n.59+1152_59+1153delinsGC
12g.53973746C>ACA385105194HOTAIR,HOXC11c.505C>A (p.Pro169Thr)
n.59+1152G>T
dbSNP gnomAD v2 gnomAD v4
12g.53973746C=CA2037241137HOTAIR,HOXC11c.505C= (p.Pro169=)
n.59+1152G=
12g.53973746C>GCA385105195HOTAIR,HOXC11c.505C>G (p.Pro169Ala)
n.59+1152G>C
gnomAD v4
12g.53973746C>TCA385105198HOTAIR,HOXC11c.505C>T (p.Pro169Ser)
n.59+1152G>A
dbSNP gnomAD v2 gnomAD v4
12g.53973751dupCA605245016HOTAIR,HOXC11c.510dup (p.Cys171LeufsTer24)
n.59+1152dup
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.53973751delCA605245014HOTAIR,HOXC11c.510del (p.Cys171AlafsTer?)
n.59+1152del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.53973747C>ACA6604256HOTAIR,HOXC11c.506C>A (p.Pro169His)
n.59+1151G>T
dbSNP ExAC gnomAD v2 gnomAD v4
12g.53973747C=CA2037241139HOTAIR,HOXC11c.506C= (p.Pro169=)
n.59+1151G=
12g.53973747C>GCA385105202HOTAIR,HOXC11c.506C>G (p.Pro169Arg)
n.59+1151G>C
dbSNP gnomAD v3 gnomAD v4
12g.53973747C>TCA385105200HOTAIR,HOXC11c.506C>T (p.Pro169Leu)
n.59+1151G>A
12g.53973748C>ACA479965362HOTAIR,HOXC11c.507C>A (p.Pro169=)
n.59+1150G>T
12g.53973748C>GCA479965363HOTAIR,HOXC11c.507C>G (p.Pro169=)
n.59+1150G>C
12g.53973748C>TCA479965364HOTAIR,HOXC11c.507C>T (p.Pro169=)
n.59+1150G>A
COSMIC
12g.53973749C>ACA385105205HOTAIR,HOXC11c.508C>A (p.Pro170Thr)
n.59+1149G>T
12g.53973749C>GCA385105207HOTAIR,HOXC11c.508C>G (p.Pro170Ala)
n.59+1149G>C
12g.53973749C>TCA385105210HOTAIR,HOXC11c.508C>T (p.Pro170Ser)
n.59+1149G>A
12g.53973750C>ACA385105211HOTAIR,HOXC11c.509C>A (p.Pro170His)
n.59+1148G>T
12g.53973750C=CA2037241141HOTAIR,HOXC11c.509C= (p.Pro170=)
n.59+1148G=
12g.53973750C>GCA385105213HOTAIR,HOXC11c.509C>G (p.Pro170Arg)
n.59+1148G>C
dbSNP
12g.53973750C>TCA6604257HOTAIR,HOXC11c.509C>T (p.Pro170Leu)
n.59+1148G>A
dbSNP ExAC gnomAD v2 gnomAD v4
12g.53973751C>ACA479965366HOTAIR,HOXC11c.510C>A (p.Pro170=)
n.59+1147G>T
12g.53973751C=CA2037241144HOTAIR,HOXC11c.510C= (p.Pro170=)
n.59+1147G=
12g.53973751C>GCA237398001HOTAIR,HOXC11c.510C>G (p.Pro170=)
n.59+1147G>C
dbSNP gnomAD v3 gnomAD v4
12g.53973751C>TCA479965365HOTAIR,HOXC11c.510C>T (p.Pro170=)
n.59+1147G>A
dbSNP gnomAD v2 gnomAD v4
12g.53973752T>ACA385105219HOTAIR,HOXC11c.511T>A (p.Cys171Ser)
n.59+1146A>T
12g.53973752T>CCA385105221HOTAIR,HOXC11c.511T>C (p.Cys171Arg)
n.59+1146A>G
COSMIC
12g.53973752T>GCA385105223HOTAIR,HOXC11c.511T>G (p.Cys171Gly)
n.59+1146A>C
gnomAD v4
12g.53973753G>ACA385105226HOTAIR,HOXC11c.512G>A (p.Cys171Tyr)
n.59+1145C>T
12g.53973753G>CCA385105229HOTAIR,HOXC11c.512G>C (p.Cys171Ser)
n.59+1145C>G
12g.53973753G>TCA385105231HOTAIR,HOXC11c.512G>T (p.Cys171Phe)
n.59+1145C>A
12g.53973754C>ACA385105234HOTAIR,HOXC11c.513C>A (p.Cys171Ter)
n.59+1144G>T
12g.53973754C>GCA385105236HOTAIR,HOXC11c.513C>G (p.Cys171Trp)
n.59+1144G>C
12g.53973754C>TCA479965367HOTAIR,HOXC11c.513C>T (p.Cys171=)
n.59+1144G>A
12g.53973755T>ACA385105238HOTAIR,HOXC11c.514T>A (p.Ser172Thr)
n.59+1143A>T
12g.53973755T>CCA385105244HOTAIR,HOXC11c.514T>C (p.Ser172Pro)
n.59+1143A>G
12g.53973755T>GCA385105241HOTAIR,HOXC11c.514T>G (p.Ser172Ala)
n.59+1143A>C
12g.53973756C>ACA385105247HOTAIR,HOXC11c.515C>A (p.Ser172Tyr)
n.59+1142G>T
gnomAD v4
12g.53973756C=CA2037241146HOTAIR,HOXC11c.515C= (p.Ser172=)
n.59+1142G=
12g.53973756C>GCA385105249HOTAIR,HOXC11c.515C>G (p.Ser172Cys)
n.59+1142G>C
12g.53973756C>TCA385105251HOTAIR,HOXC11c.515C>T (p.Ser172Phe)
n.59+1142G>A
dbSNP gnomAD v4
12g.53973757C>ACA479965368HOTAIR,HOXC11c.516C>A (p.Ser172=)
n.59+1141G>T
dbSNP
12g.53973757C=CA2037241150HOTAIR,HOXC11c.516C= (p.Ser172=)
n.59+1141G=
12g.53973757C>GCA479965370HOTAIR,HOXC11c.516C>G (p.Ser172=)
n.59+1141G>C
12g.53973757C>TCA479965369HOTAIR,HOXC11c.516C>T (p.Ser172=)
n.59+1141G>A
gnomAD v4
12g.53973758G>ACA6604258HOTAIR,HOXC11c.517G>A (p.Gly173Ser)
n.59+1140C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.53973758G>CCA385105256HOTAIR,HOXC11c.517G>C (p.Gly173Arg)
n.59+1140C>G
gnomAD v4
12g.53973758G=CA2037241151HOTAIR,HOXC11c.517G= (p.Gly173=)
n.59+1140C=
12g.53973758G>TCA6604259HOTAIR,HOXC11c.517G>T (p.Gly173Cys)
n.59+1140C>A
dbSNP ExAC gnomAD v2 gnomAD v4
12g.53973759G>ACA385105265HOTAIR,HOXC11c.518G>A (p.Gly173Asp)
n.59+1139C>T
gnomAD v4
12g.53973759G>CCA385105268HOTAIR,HOXC11c.518G>C (p.Gly173Ala)
n.59+1139C>G
12g.53973759G=CA2037241152HOTAIR,HOXC11c.518G= (p.Gly173=)
n.59+1139C=
12g.53973759G>TCA385105271HOTAIR,HOXC11c.518G>T (p.Gly173Val)
n.59+1139C>A
12g.53973760C>ACA479965371HOTAIR,HOXC11c.519C>A (p.Gly173=)
n.59+1138G>T
dbSNP gnomAD v2 gnomAD v4
12g.53973760C=CA2037241154HOTAIR,HOXC11c.519C= (p.Gly173=)
n.59+1138G=
12g.53973760C>GCA479965372HOTAIR,HOXC11c.519C>G (p.Gly173=)
n.59+1138G>C
12g.53973760C>TCA479965373HOTAIR,HOXC11c.519C>T (p.Gly173=)
n.59+1138G>A
dbSNP gnomAD v4
12g.53973766_53973777dupCA689961572HOTAIR,HOXC11c.525_536dup (p.Gly179_Glu180insGluAlaLysGly)
n.59+1127_59+1138dup
dbSNP gnomAD v3 gnomAD v4
12g.53973761A=CA2037241157HOTAIR,HOXC11c.520A= (p.Lys174=)
n.59+1137T=
12g.53973761A>CCA385105274HOTAIR,HOXC11c.520A>C (p.Lys174Gln)
n.59+1137T>G
12g.53973761A>GCA385105276HOTAIR,HOXC11c.520A>G (p.Lys174Glu)
n.59+1137T>C
dbSNP gnomAD v4
12g.53973761A>TCA385105279HOTAIR,HOXC11c.520A>T (p.Lys174Ter)
n.59+1137T>A
12g.53973762A>CCA385105282HOTAIR,HOXC11c.521A>C (p.Lys174Thr)
n.59+1136T>G
12g.53973762A>GCA385105280HOTAIR,HOXC11c.521A>G (p.Lys174Arg)
n.59+1136T>C
12g.53973762A>TCA385105281HOTAIR,HOXC11c.521A>T (p.Lys174Met)
n.59+1136T>A
12g.53973763G>ACA479965374HOTAIR,HOXC11c.522G>A (p.Lys174=)
n.59+1135C>T
12g.53973763G>CCA385105284HOTAIR,HOXC11c.522G>C (p.Lys174Asn)
n.59+1135C>G
12g.53973763G>TCA385105285HOTAIR,HOXC11c.522G>T (p.Lys174Asn)
n.59+1135C>A
12g.53973764G>ACA6604260HOTAIR,HOXC11c.523G>A (p.Gly175Ser)
n.59+1134C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.53973764G>CCA385105292HOTAIR,HOXC11c.523G>C (p.Gly175Arg)
n.59+1134C>G
dbSNP gnomAD v3 gnomAD v4
12g.53973764G=CA2037241159HOTAIR,HOXC11c.523G= (p.Gly175=)
n.59+1134C=
12g.53973764G>TCA6604261HOTAIR,HOXC11c.523G>T (p.Gly175Cys)
n.59+1134C>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.53973765G>ACA385105296HOTAIR,HOXC11c.524G>A (p.Gly175Asp)
n.59+1133C>T
dbSNP gnomAD v3 gnomAD v4
12g.53973765G>CCA385105300HOTAIR,HOXC11c.524G>C (p.Gly175Ala)
n.59+1133C>G
dbSNP
12g.53973765G=CA2037241165HOTAIR,HOXC11c.524G= (p.Gly175=)
n.59+1133C=
12g.53973765G>TCA385105301HOTAIR,HOXC11c.524G>T (p.Gly175Val)
n.59+1133C>A
12g.53973766C>ACA479965375HOTAIR,HOXC11c.525C>A (p.Gly175=)
n.59+1132G>T
12g.53973766C=CA2037241172HOTAIR,HOXC11c.525C= (p.Gly175=)
n.59+1132G=
12g.53973766C>GCA479965376HOTAIR,HOXC11c.525C>G (p.Gly175=)
n.59+1132G>C
12g.53973766C>TCA479965377HOTAIR,HOXC11c.525C>T (p.Gly175=)
n.59+1132G>A
dbSNP gnomAD v2 gnomAD v4
12g.53973772_53973789delCA2619096522HOTAIR,HOXC11c.531_548del (p.Lys178_Ala183del)
n.59+1115_59+1132del
gnomAD v4
12g.53973767G>ACA6604262HOTAIR,HOXC11c.526G>A (p.Glu176Lys)
n.59+1131C>T
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.53973767G>CCA385105306HOTAIR,HOXC11c.526G>C (p.Glu176Gln)
n.59+1131C>G
12g.53973767G=CA2037241177HOTAIR,HOXC11c.526G= (p.Glu176=)
n.59+1131C=
12g.53973767G>TCA385105314HOTAIR,HOXC11c.526G>T (p.Glu176Ter)
n.59+1131C>A
gnomAD v4
12g.53973768A>CCA385105322HOTAIR,HOXC11c.527A>C (p.Glu176Ala)
n.59+1130T>G
12g.53973768A>GCA385105320HOTAIR,HOXC11c.527A>G (p.Glu176Gly)
n.59+1130T>C
12g.53973768A>TCA385105318HOTAIR,HOXC11c.527A>T (p.Glu176Val)
n.59+1130T>A
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

Number of alleles fetched