Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.53973795_53973816delinsCGGCCTCGGGACTGGCGTCCCGCA2037241225HOTAIR,HOXC11c.554_575delinsCGGCCTCGGGACTGGCGTCCCG (p.Pro185=)
n.59+1082_59+1103delinsCGGGACGCCAGTCCCGAGGCCG
12g.53973799_53973819delCA919091698HOTAIR,HOXC11c.558_578del (p.Ser187_Ala193del)
n.59+1082_59+1102del
dbSNP
12g.53973805_53973815delCA2796041907HOTAIR,HOXC11c.564_574del (p.Leu189GlyfsTer2)
n.59+1083_59+1093del
12g.53973806_53973825delCA2619096609HOTAIR,HOXC11c.565_584del (p.Leu189GlyfsTer7)
n.59+1073_59+1092del
gnomAD v4
12g.53973810_53973815delCA1139655183HOTAIR,HOXC11c.569_574del (p.Ala190_Arg192delinsGly)
n.59+1083_59+1088del
gnomAD v4
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
12g.53973870C>ACA385105848HOTAIR,HOXC11c.629C>A (p.Ser210Ter)
n.59+1028G>T
dbSNP
12g.53973870C=CA2037241317HOTAIR,HOXC11c.629C= (p.Ser210=)
n.59+1028G=
12g.53973870C>GCA385105850HOTAIR,HOXC11c.629C>G (p.Ser210Trp)
n.59+1028G>C
12g.53973870C>TCA237398079HOTAIR,HOXC11c.629C>T (p.Ser210Leu)
n.59+1028G>A
dbSNP gnomAD v3 gnomAD v4 COSMIC
12g.53973871G>ACA479965449HOTAIR,HOXC11c.630G>A (p.Ser210=)
n.59+1027C>T
dbSNP gnomAD v3 gnomAD v4
12g.53973871G>CCA479965450HOTAIR,HOXC11c.630G>C (p.Ser210=)
n.59+1027C>G
dbSNP gnomAD v4
12g.53973871G=CA2037241321HOTAIR,HOXC11c.630G= (p.Ser210=)
n.59+1027C=
12g.53973871G>TCA479965451HOTAIR,HOXC11c.630G>T (p.Ser210=)
n.59+1027C>A
dbSNP gnomAD v2 gnomAD v4
12g.53973872T>ACA385105860HOTAIR,HOXC11c.631T>A (p.Ser211Thr)
n.59+1026A>T
12g.53973872T>CCA385105855HOTAIR,HOXC11c.631T>C (p.Ser211Pro)
n.59+1026A>G
gnomAD v4
12g.53973872T>GCA385105858HOTAIR,HOXC11c.631T>G (p.Ser211Ala)
n.59+1026A>C
12g.53973873C>ACA385105861HOTAIR,HOXC11c.632C>A (p.Ser211Tyr)
n.59+1025G>T
12g.53973873C>GCA385105864HOTAIR,HOXC11c.632C>G (p.Ser211Cys)
n.59+1025G>C
12g.53973873C>TCA385105867HOTAIR,HOXC11c.632C>T (p.Ser211Phe)
n.59+1025G>A
12g.53973874C>ACA479965452HOTAIR,HOXC11c.633C>A (p.Ser211=)
n.59+1024G>T
dbSNP gnomAD v3 gnomAD v4
12g.53973874C=CA2037241323HOTAIR,HOXC11c.633C= (p.Ser211=)
n.59+1024G=
12g.53973874C>GCA479965453HOTAIR,HOXC11c.633C>G (p.Ser211=)
n.59+1024G>C
gnomAD v4
12g.53973874C>TCA6604282HOTAIR,HOXC11c.633C>T (p.Ser211=)
n.59+1024G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.53973875G>ACA237398102HOTAIR,HOXC11c.634G>A (p.Gly212Ser)
n.59+1023C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.53973875G>CCA385105875HOTAIR,HOXC11c.634G>C (p.Gly212Arg)
n.59+1023C>G
12g.53973875G=CA2037241325HOTAIR,HOXC11c.634G= (p.Gly212=)
n.59+1023C=
12g.53973875G>TCA385105878HOTAIR,HOXC11c.634G>T (p.Gly212Cys)
n.59+1023C>A
dbSNP
12g.53973876G>ACA385105881HOTAIR,HOXC11c.635G>A (p.Gly212Asp)
n.59+1022C>T
12g.53973876G>CCA385105882HOTAIR,HOXC11c.635G>C (p.Gly212Ala)
n.59+1022C>G
12g.53973876G=CA2037241328HOTAIR,HOXC11c.635G= (p.Gly212=)
n.59+1022C=
12g.53973876G>TCA385105885HOTAIR,HOXC11c.635G>T (p.Gly212Val)
n.59+1022C>A
dbSNP gnomAD v2 gnomAD v4
12g.53973877T>ACA479965454HOTAIR,HOXC11c.636T>A (p.Gly212=)
n.59+1021A>T
12g.53973877T>CCA479965455HOTAIR,HOXC11c.636T>C (p.Gly212=)
n.59+1021A>G
12g.53973877T>GCA479965456HOTAIR,HOXC11c.636T>G (p.Gly212=)
n.59+1021A>C
12g.53973878T>ACA385105888HOTAIR,HOXC11c.637T>A (p.Ser213Thr)
n.59+1020A>T
12g.53973878T>CCA385105890HOTAIR,HOXC11c.637T>C (p.Ser213Pro)
n.59+1020A>G
12g.53973878T>GCA385105891HOTAIR,HOXC11c.637T>G (p.Ser213Ala)
n.59+1020A>C
12g.53973879C>ACA385105901HOTAIR,HOXC11c.638C>A (p.Ser213Ter)
n.59+1019G>T
12g.53973879C>GCA385105895HOTAIR,HOXC11c.638C>G (p.Ser213Ter)
n.59+1019G>C
12g.53973879C>TCA385105898HOTAIR,HOXC11c.638C>T (p.Ser213Leu)
n.59+1019G>A
12g.53973880A>CCA479965457HOTAIR,HOXC11c.639A>C (p.Ser213=)
n.59+1018T>G
12g.53973880A>GCA479965458HOTAIR,HOXC11c.639A>G (p.Ser213=)
n.59+1018T>C
gnomAD v4
12g.53973880A>TCA479965459HOTAIR,HOXC11c.639A>T (p.Ser213=)
n.59+1018T>A
12g.53973881G>ACA385105903HOTAIR,HOXC11c.640G>A (p.Ala214Thr)
n.59+1017C>T
dbSNP gnomAD v4
12g.53973881G>CCA385105904HOTAIR,HOXC11c.640G>C (p.Ala214Pro)
n.59+1017C>G
12g.53973881G=CA2037241331HOTAIR,HOXC11c.640G= (p.Ala214=)
n.59+1017C=
12g.53973881G>TCA385105907HOTAIR,HOXC11c.640G>T (p.Ala214Ser)
n.59+1017C>A
gnomAD v4
12g.53973882C>ACA385105911HOTAIR,HOXC11c.641C>A (p.Ala214Asp)
n.59+1016G>T
12g.53973882C>GCA385105913HOTAIR,HOXC11c.641C>G (p.Ala214Gly)
n.59+1016G>C
12g.53973882C>TCA385105915HOTAIR,HOXC11c.641C>T (p.Ala214Val)
n.59+1016G>A
gnomAD v4
12g.53973883C>ACA479965460HOTAIR,HOXC11c.642C>A (p.Ala214=)
n.59+1015G>T
gnomAD v4
12g.53973883C=CA2037241333HOTAIR,HOXC11c.642C= (p.Ala214=)
n.59+1015G=
12g.53973883C>GCA479965461HOTAIR,HOXC11c.642C>G (p.Ala214=)
n.59+1015G>C
12g.53973883C>TCA479965462HOTAIR,HOXC11c.642C>T (p.Ala214=)
n.59+1015G>A
dbSNP gnomAD v3 gnomAD v4
12g.53973884C>ACA385105921HOTAIR,HOXC11c.643C>A (p.His215Asn)
n.59+1014G>T
gnomAD v4
12g.53973884C>GCA385105918HOTAIR,HOXC11c.643C>G (p.His215Asp)
n.59+1014G>C
gnomAD v4
12g.53973884C>TCA385105919HOTAIR,HOXC11c.643C>T (p.His215Tyr)
n.59+1014G>A
gnomAD v4
12g.53973885A>CCA385105925HOTAIR,HOXC11c.644A>C (p.His215Pro)
n.59+1013T>G
gnomAD v4
12g.53973885A>GCA385105927HOTAIR,HOXC11c.644A>G (p.His215Arg)
n.59+1013T>C
12g.53973885A>TCA385105929HOTAIR,HOXC11c.644A>T (p.His215Leu)
n.59+1013T>A
12g.53973886C>ACA385105931HOTAIR,HOXC11c.645C>A (p.His215Gln)
n.59+1012G>T
12g.53973886C>GCA385105933HOTAIR,HOXC11c.645C>G (p.His215Gln)
n.59+1012G>C
12g.53973886C>TCA479965463HOTAIR,HOXC11c.645C>T (p.His215=)
n.59+1012G>A
gnomAD v4
12g.53973887T>ACA385105939HOTAIR,HOXC11c.646T>A (p.Ser216Thr)
n.59+1011A>T
dbSNP gnomAD v4
12g.53973887T>CCA385105935HOTAIR,HOXC11c.646T>C (p.Ser216Pro)
n.59+1011A>G
12g.53973887T>GCA385105937HOTAIR,HOXC11c.646T>G (p.Ser216Ala)
n.59+1011A>C
12g.53973888C>ACA385105940HOTAIR,HOXC11c.647C>A (p.Ser216Tyr)
n.59+1010G>T
gnomAD v4
12g.53973888C=CA2037241336HOTAIR,HOXC11c.647C= (p.Ser216=)
n.59+1010G=
12g.53973888C>GCA385105941HOTAIR,HOXC11c.647C>G (p.Ser216Cys)
n.59+1010G>C
12g.53973888C>TCA237398125HOTAIR,HOXC11c.647C>T (p.Ser216Phe)
n.59+1010G>A
dbSNP gnomAD v3 gnomAD v4
12g.53973889C>ACA237398128HOTAIR,HOXC11c.648C>A (p.Ser216=)
n.59+1009G>T
dbSNP
12g.53973889C=CA2037241341HOTAIR,HOXC11c.648C= (p.Ser216=)
n.59+1009G=
12g.53973889C>GCA479965465HOTAIR,HOXC11c.648C>G (p.Ser216=)
n.59+1009G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.53973889C>TCA479965464HOTAIR,HOXC11c.648C>T (p.Ser216=)
n.59+1009G>A
dbSNP gnomAD v3 gnomAD v4
12g.53973890G>ACA385105942HOTAIR,HOXC11c.649G>A (p.Val217Met)
n.59+1008C>T
dbSNP gnomAD v4
12g.53973890G>CCA385105944HOTAIR,HOXC11c.649G>C (p.Val217Leu)
n.59+1008C>G
12g.53973890G=CA2037241347HOTAIR,HOXC11c.649G= (p.Val217=)
n.59+1008C=
12g.53973890G>TCA385105945HOTAIR,HOXC11c.649G>T (p.Val217Leu)
n.59+1008C>A
gnomAD v4
12g.53973891T>ACA385105949HOTAIR,HOXC11c.650T>A (p.Val217Glu)
n.59+1007A>T
12g.53973891T>CCA385105952HOTAIR,HOXC11c.650T>C (p.Val217Ala)
n.59+1007A>G
gnomAD v3 gnomAD v4
12g.53973891T>GCA385105957HOTAIR,HOXC11c.650T>G (p.Val217Gly)
n.59+1007A>C
12g.53973892G>ACA479965466HOTAIR,HOXC11c.651G>A (p.Val217=)
n.59+1006C>T
gnomAD v4
12g.53973892G>CCA479965467HOTAIR,HOXC11c.651G>C (p.Val217=)
n.59+1006C>G
12g.53973892G>TCA479965468HOTAIR,HOXC11c.651G>T (p.Val217=)
n.59+1006C>A
gnomAD v4
12g.53973893delCA2619096797HOTAIR,HOXC11c.652del (p.Ala218ProfsTer?)
n.59+1006del
gnomAD v4
12g.53973898_53973909delCA2619096800HOTAIR,HOXC11c.657_668del (p.Glu220_Lys223del)
n.59+995_59+1006del
gnomAD v4
12g.53973893G>ACA385105961HOTAIR,HOXC11c.652G>A (p.Ala218Thr)
n.59+1005C>T
dbSNP gnomAD v2 gnomAD v4
12g.53973893G>CCA385105963HOTAIR,HOXC11c.652G>C (p.Ala218Pro)
n.59+1005C>G
12g.53973893G=CA2037241349HOTAIR,HOXC11c.652G= (p.Ala218=)
n.59+1005C=
12g.53973893G>TCA385105965HOTAIR,HOXC11c.652G>T (p.Ala218Ser)
n.59+1005C>A
12g.53973894C>ACA385105968HOTAIR,HOXC11c.653C>A (p.Ala218Asp)
n.59+1004G>T
gnomAD v4
12g.53973894C>GCA385105973HOTAIR,HOXC11c.653C>G (p.Ala218Gly)
n.59+1004G>C
12g.53973894C>TCA385105970HOTAIR,HOXC11c.653C>T (p.Ala218Val)
n.59+1004G>A
12g.53973895C>ACA479965469HOTAIR,HOXC11c.654C>A (p.Ala218=)
n.59+1003G>T
gnomAD v4
12g.53973895C>GCA479965470HOTAIR,HOXC11c.654C>G (p.Ala218=)
n.59+1003G>C
12g.53973895C>TCA479965471HOTAIR,HOXC11c.654C>T (p.Ala218=)
n.59+1003G>A
12g.53973895_53973908delinsCAAGGAGCCGGCCACA2037241351HOTAIR,HOXC11c.654_667delinsCAAGGAGCCGGCCA (p.Ala218=)
n.59+990_59+1003delinsTGGCCGGCTCCTTG
12g.53973896A>CCA385105975HOTAIR,HOXC11c.655A>C (p.Lys219Gln)
n.59+1002T>G
12g.53973896A>GCA385105979HOTAIR,HOXC11c.655A>G (p.Lys219Glu)
n.59+1002T>C
12g.53973896A>TCA385105977HOTAIR,HOXC11c.655A>T (p.Lys219Ter)
n.59+1002T>A
gnomAD v4
12g.53973905_53973917delCA689961818HOTAIR,HOXC11c.664_676del (p.Ala222ProfsTer?)
n.59+990_59+1002del
dbSNP gnomAD v4
12g.53973897A>CCA385105982HOTAIR,HOXC11c.656A>C (p.Lys219Thr)
n.59+1001T>G
12g.53973897A>GCA385105984HOTAIR,HOXC11c.656A>G (p.Lys219Arg)
n.59+1001T>C
gnomAD v4
12g.53973897A>TCA385105987HOTAIR,HOXC11c.656A>T (p.Lys219Met)
n.59+1001T>A
12g.53973898G>ACA479965472HOTAIR,HOXC11c.657G>A (p.Lys219=)
n.59+1000C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.53973898G>CCA385105989HOTAIR,HOXC11c.657G>C (p.Lys219Asn)
n.59+1000C>G
12g.53973898G=CA2037241356HOTAIR,HOXC11c.657G= (p.Lys219=)
n.59+1000C=
12g.53973898G>TCA385105991HOTAIR,HOXC11c.657G>T (p.Lys219Asn)
n.59+1000C>A
gnomAD v4
12g.53973899G>ACA385105993HOTAIR,HOXC11c.658G>A (p.Glu220Lys)
n.59+999C>T
12g.53973899G>CCA385105994HOTAIR,HOXC11c.658G>C (p.Glu220Gln)
n.59+999C>G
dbSNP gnomAD v2 gnomAD v4
12g.53973899G=CA2037241358HOTAIR,HOXC11c.658G= (p.Glu220=)
n.59+999C=
12g.53973899G>TCA385105995HOTAIR,HOXC11c.658G>T (p.Glu220Ter)
n.59+999C>A
12g.53973900A>CCA385105998HOTAIR,HOXC11c.659A>C (p.Glu220Ala)
n.59+998T>G
12g.53973900A>GCA385105999HOTAIR,HOXC11c.659A>G (p.Glu220Gly)
n.59+998T>C
12g.53973900A>TCA385106001HOTAIR,HOXC11c.659A>T (p.Glu220Val)
n.59+998T>A
12g.53973901G>ACA479965473HOTAIR,HOXC11c.660G>A (p.Glu220=)
n.59+997C>T
12g.53973901G>CCA385106005HOTAIR,HOXC11c.660G>C (p.Glu220Asp)
n.59+997C>G
12g.53973901G>TCA385106003HOTAIR,HOXC11c.660G>T (p.Glu220Asp)
n.59+997C>A
gnomAD v4
12g.53973902C>ACA385106006HOTAIR,HOXC11c.661C>A (p.Pro221Thr)
n.59+996G>T
12g.53973902C=CA2037241361HOTAIR,HOXC11c.661C= (p.Pro221=)
n.59+996G=
12g.53973902C>GCA385106008HOTAIR,HOXC11c.661C>G (p.Pro221Ala)
n.59+996G>C
12g.53973902C>TCA237398129HOTAIR,HOXC11c.661C>T (p.Pro221Ser)
n.59+996G>A
dbSNP gnomAD v4
12g.53973903C>ACA385106011HOTAIR,HOXC11c.662C>A (p.Pro221Gln)
n.59+995G>T
gnomAD v4
12g.53973903C=CA2037241363HOTAIR,HOXC11c.662C= (p.Pro221=)
n.59+995G=
12g.53973903C>GCA385106013HOTAIR,HOXC11c.662C>G (p.Pro221Arg)
n.59+995G>C
gnomAD v4
12g.53973903C>TCA385106015HOTAIR,HOXC11c.662C>T (p.Pro221Leu)
n.59+995G>A
dbSNP gnomAD v3 gnomAD v4
12g.53973904G>ACA479965474HOTAIR,HOXC11c.663G>A (p.Pro221=)
n.59+994C>T
dbSNP gnomAD v2 gnomAD v4
12g.53973904G>CCA479965475HOTAIR,HOXC11c.663G>C (p.Pro221=)
n.59+994C>G
dbSNP gnomAD v2 gnomAD v4
12g.53973904G=CA2037241365HOTAIR,HOXC11c.663G= (p.Pro221=)
n.59+994C=
12g.53973904G>TCA479965476HOTAIR,HOXC11c.663G>T (p.Pro221=)
n.59+994C>A
gnomAD v4
12g.53973905G>ACA385106017HOTAIR,HOXC11c.664G>A (p.Ala222Thr)
n.59+993C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.53973905G>CCA385106018HOTAIR,HOXC11c.664G>C (p.Ala222Pro)
n.59+993C>G
12g.53973905G=CA2037241369HOTAIR,HOXC11c.664G= (p.Ala222=)
n.59+993C=
12g.53973905G>TCA385106020HOTAIR,HOXC11c.664G>T (p.Ala222Ser)
n.59+993C>A
gnomAD v4
12g.53973906C>ACA385106022HOTAIR,HOXC11c.665C>A (p.Ala222Asp)
n.59+992G>T
gnomAD v4
12g.53973906C=CA2037241372HOTAIR,HOXC11c.665C= (p.Ala222=)
n.59+992G=
12g.53973906C>GCA385106024HOTAIR,HOXC11c.665C>G (p.Ala222Gly)
n.59+992G>C
gnomAD v4
12g.53973906C>TCA6604283HOTAIR,HOXC11c.665C>T (p.Ala222Val)
n.59+992G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.53973908_53973920dupCA689961862HOTAIR,HOXC11c.667_679dup (p.Pro227GlnfsTer7)
c.667_679dup (p.Pro227GlnfsTer?)
n.59+980_59+992dup
dbSNP
12g.53973907C>ACA479965477HOTAIR,HOXC11c.666C>A (p.Ala222=)
n.59+991G>T
gnomAD v4
12g.53973907C>GCA479965478HOTAIR,HOXC11c.666C>G (p.Ala222=)
n.59+991G>C
12g.53973907C>TCA479965479HOTAIR,HOXC11c.666C>T (p.Ala222=)
n.59+991G>A
12g.53973908A=CA2037241375HOTAIR,HOXC11c.667A= (p.Lys223=)
n.59+990T=
12g.53973908A>CCA385106030HOTAIR,HOXC11c.667A>C (p.Lys223Gln)
n.59+990T>G
dbSNP gnomAD v3 gnomAD v4
12g.53973908A>GCA385106032HOTAIR,HOXC11c.667A>G (p.Lys223Glu)
n.59+990T>C
gnomAD v4
12g.53973908A>TCA385106028HOTAIR,HOXC11c.667A>T (p.Lys223Ter)
n.59+990T>A
dbSNP gnomAD v3 gnomAD v4
12g.53973910delCA2619096870HOTAIR,HOXC11c.669del (p.Gly224GlufsTer?)
n.59+990del
gnomAD v4
12g.53973909A>CCA385106034HOTAIR,HOXC11c.668A>C (p.Lys223Thr)
n.59+989T>G
12g.53973909A>GCA385106036HOTAIR,HOXC11c.668A>G (p.Lys223Arg)
n.59+989T>C
gnomAD v4
12g.53973909A>TCA385106037HOTAIR,HOXC11c.668A>T (p.Lys223Ile)
n.59+989T>A
gnomAD v4
12g.53973910A=CA2037241377HOTAIR,HOXC11c.669A= (p.Lys223=)
n.59+988T=
12g.53973910A>CCA385106039HOTAIR,HOXC11c.669A>C (p.Lys223Asn)
n.59+988T>G
gnomAD v4
12g.53973910A>GCA237398130HOTAIR,HOXC11c.669A>G (p.Lys223=)
n.59+988T>C
dbSNP gnomAD v3 gnomAD v4
12g.53973910A>TCA385106041HOTAIR,HOXC11c.669A>T (p.Lys223Asn)
n.59+988T>A
12g.53973911G>ACA385106048HOTAIR,HOXC11c.670G>A (p.Gly224Arg)
n.59+987C>T
12g.53973911G>CCA385106046HOTAIR,HOXC11c.670G>C (p.Gly224Arg)
n.59+987C>G
COSMIC
12g.53973911G=CA2037241380HOTAIR,HOXC11c.670G= (p.Gly224=)
n.59+987C=
12g.53973911G>TCA385106044HOTAIR,HOXC11c.670G>T (p.Gly224Ter)
n.59+987C>A
dbSNP gnomAD v4
12g.53973912G>ACA385106051HOTAIR,HOXC11c.671G>A (p.Gly224Glu)
n.59+986C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.53973912G>CCA385106053HOTAIR,HOXC11c.671G>C (p.Gly224Ala)
n.59+986C>G
12g.53973912G=CA2037241382HOTAIR,HOXC11c.671G= (p.Gly224=)
n.59+986C=
12g.53973912G>TCA385106055HOTAIR,HOXC11c.671G>T (p.Gly224Val)
n.59+986C>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched