Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.7125398C>A | CA403671212 | INSR | c.3143G>T (p.Gly1048Val) c.3107G>T (p.Gly1036Val) c.3218G>T (p.Gly1073Val) c.3182G>T (p.Gly1061Val) c.3140G>T (p.Gly1047Val) c.3104G>T (p.Gly1035Val) | gnomAD v4 |
19 | g.7125398C= | CA2320767949 | INSR | c.3143G= (p.Gly1048=) c.3107G= (p.Gly1036=) c.3218G= (p.Gly1073=) c.3182G= (p.Gly1061=) c.3140G= (p.Gly1047=) c.3104G= (p.Gly1035=) | |
19 | g.7125398C>G | CA403671211 | INSR | c.3143G>C (p.Gly1048Ala) c.3107G>C (p.Gly1036Ala) c.3218G>C (p.Gly1073Ala) c.3182G>C (p.Gly1061Ala) c.3140G>C (p.Gly1047Ala) c.3104G>C (p.Gly1035Ala) | |
19 | g.7125398C>T | CA9135351 | INSR | c.3143G>A (p.Gly1048Asp) c.3107G>A (p.Gly1036Asp) c.3218G>A (p.Gly1073Asp) c.3182G>A (p.Gly1061Asp) c.3140G>A (p.Gly1047Asp) c.3104G>A (p.Gly1035Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7125398_7125402del | CA2587922096 | INSR | c.3139_3143del (p.Lys1047Ter) c.3103_3107del (p.Lys1035Ter) c.3214_3218del (p.Lys1072Ter) c.3178_3182del (p.Lys1060Ter) c.3136_3140del (p.Lys1046Ter) c.3100_3104del (p.Lys1034Ter) | gnomAD v4 |
19 | g.7125399C>A | CA403671213 | INSR | c.3142G>T (p.Gly1048Cys) c.3106G>T (p.Gly1036Cys) c.3217G>T (p.Gly1073Cys) c.3181G>T (p.Gly1061Cys) c.3139G>T (p.Gly1047Cys) c.3103G>T (p.Gly1035Cys) | |
19 | g.7125399C>G | CA403671214 | INSR | c.3142G>C (p.Gly1048Arg) c.3106G>C (p.Gly1036Arg) c.3217G>C (p.Gly1073Arg) c.3181G>C (p.Gly1061Arg) c.3139G>C (p.Gly1047Arg) c.3103G>C (p.Gly1035Arg) | |
19 | g.7125399C>T | CA403671215 | INSR | c.3142G>A (p.Gly1048Ser) c.3106G>A (p.Gly1036Ser) c.3217G>A (p.Gly1073Ser) c.3181G>A (p.Gly1061Ser) c.3139G>A (p.Gly1047Ser) c.3103G>A (p.Gly1035Ser) | gnomAD v4 |
19 | g.7125400C>A | CA403671216 | INSR | c.3141G>T (p.Lys1047Asn) c.3105G>T (p.Lys1035Asn) c.3216G>T (p.Lys1072Asn) c.3180G>T (p.Lys1060Asn) c.3138G>T (p.Lys1046Asn) c.3102G>T (p.Lys1034Asn) | |
19 | g.7125400C>G | CA403671217 | INSR | c.3141G>C (p.Lys1047Asn) c.3105G>C (p.Lys1035Asn) c.3216G>C (p.Lys1072Asn) c.3180G>C (p.Lys1060Asn) c.3138G>C (p.Lys1046Asn) c.3102G>C (p.Lys1034Asn) | |
19 | g.7125400C>T | CA505400233 | INSR | c.3141G>A (p.Lys1047=) c.3105G>A (p.Lys1035=) c.3216G>A (p.Lys1072=) c.3180G>A (p.Lys1060=) c.3138G>A (p.Lys1046=) c.3102G>A (p.Lys1034=) | gnomAD v4 |
19 | g.7125401T>A | CA403671218 | INSR | c.3140A>T (p.Lys1047Met) c.3104A>T (p.Lys1035Met) c.3215A>T (p.Lys1072Met) c.3179A>T (p.Lys1060Met) c.3137A>T (p.Lys1046Met) c.3101A>T (p.Lys1034Met) | COSMIC |
19 | g.7125401T>C | CA9135352 | INSR | c.3140A>G (p.Lys1047Arg) c.3104A>G (p.Lys1035Arg) c.3215A>G (p.Lys1072Arg) c.3179A>G (p.Lys1060Arg) c.3137A>G (p.Lys1046Arg) c.3101A>G (p.Lys1034Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7125401T>G | CA403671219 | INSR | c.3140A>C (p.Lys1047Thr) c.3104A>C (p.Lys1035Thr) c.3215A>C (p.Lys1072Thr) c.3179A>C (p.Lys1060Thr) c.3137A>C (p.Lys1046Thr) c.3101A>C (p.Lys1034Thr) | gnomAD v4 |
19 | g.7125401T= | CA2320767950 | INSR | c.3140A= (p.Lys1047=) c.3104A= (p.Lys1035=) c.3215A= (p.Lys1072=) c.3179A= (p.Lys1060=) c.3137A= (p.Lys1046=) c.3101A= (p.Lys1034=) | |
19 | g.7125402T>A | CA403671220 | INSR | c.3139A>T (p.Lys1047Ter) c.3103A>T (p.Lys1035Ter) c.3214A>T (p.Lys1072Ter) c.3178A>T (p.Lys1060Ter) c.3136A>T (p.Lys1046Ter) c.3100A>T (p.Lys1034Ter) | |
19 | g.7125402T>C | CA403671221 | INSR | c.3139A>G (p.Lys1047Glu) c.3103A>G (p.Lys1035Glu) c.3214A>G (p.Lys1072Glu) c.3178A>G (p.Lys1060Glu) c.3136A>G (p.Lys1046Glu) c.3100A>G (p.Lys1034Glu) | dbSNP |
19 | g.7125402T>G | CA403671222 | INSR | c.3139A>C (p.Lys1047Gln) c.3103A>C (p.Lys1035Gln) c.3214A>C (p.Lys1072Gln) c.3178A>C (p.Lys1060Gln) c.3136A>C (p.Lys1046Gln) c.3100A>C (p.Lys1034Gln) | |
19 | g.7125402T= | CA2320767951 | INSR | c.3139A= (p.Lys1047=) c.3103A= (p.Lys1035=) c.3214A= (p.Lys1072=) c.3178A= (p.Lys1060=) c.3136A= (p.Lys1046=) c.3100A= (p.Lys1034=) | |
19 | g.7125403G>A | CA505400234 | INSR | c.3138C>T (p.Ile1046=) c.3102C>T (p.Ile1034=) c.3213C>T (p.Ile1071=) c.3177C>T (p.Ile1059=) c.3135C>T (p.Ile1045=) c.3099C>T (p.Ile1033=) | |
19 | g.7125403G>C | CA403671223 | INSR | c.3138C>G (p.Ile1046Met) c.3102C>G (p.Ile1034Met) c.3213C>G (p.Ile1071Met) c.3177C>G (p.Ile1059Met) c.3135C>G (p.Ile1045Met) c.3099C>G (p.Ile1033Met) | |
19 | g.7125403G= | CA2320767952 | INSR | c.3138C= (p.Ile1046=) c.3102C= (p.Ile1034=) c.3213C= (p.Ile1071=) c.3177C= (p.Ile1059=) c.3135C= (p.Ile1045=) c.3099C= (p.Ile1033=) | |
19 | g.7125403G>T | CA9135353 | INSR | c.3138C>A (p.Ile1046=) c.3102C>A (p.Ile1034=) c.3213C>A (p.Ile1071=) c.3177C>A (p.Ile1059=) c.3135C>A (p.Ile1045=) c.3099C>A (p.Ile1033=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7125404A= | CA2320767953 | INSR | c.3137T= (p.Ile1046=) c.3101T= (p.Ile1034=) c.3212T= (p.Ile1071=) c.3176T= (p.Ile1059=) c.3134T= (p.Ile1045=) c.3098T= (p.Ile1033=) | |
19 | g.7125404A>C | CA403671224 | INSR | c.3137T>G (p.Ile1046Ser) c.3101T>G (p.Ile1034Ser) c.3212T>G (p.Ile1071Ser) c.3176T>G (p.Ile1059Ser) c.3134T>G (p.Ile1045Ser) c.3098T>G (p.Ile1033Ser) | |
19 | g.7125404A>G | CA403671225 | INSR | c.3137T>C (p.Ile1046Thr) c.3101T>C (p.Ile1034Thr) c.3212T>C (p.Ile1071Thr) c.3176T>C (p.Ile1059Thr) c.3134T>C (p.Ile1045Thr) c.3098T>C (p.Ile1033Thr) | |
19 | g.7125404A>T | CA403671226 | INSR | c.3137T>A (p.Ile1046Asn) c.3101T>A (p.Ile1034Asn) c.3212T>A (p.Ile1071Asn) c.3176T>A (p.Ile1059Asn) c.3134T>A (p.Ile1045Asn) c.3098T>A (p.Ile1033Asn) | dbSNP |
19 | g.7125404_7125405del | CA2587922097 | INSR | c.3136_3137del (p.Ile1046GlnfsTer3) c.3100_3101del (p.Ile1034GlnfsTer3) c.3211_3212del (p.Ile1071GlnfsTer3) c.3175_3176del (p.Ile1059GlnfsTer3) c.3133_3134del (p.Ile1045GlnfsTer3) c.3097_3098del (p.Ile1033GlnfsTer3) | gnomAD v4 |
19 | g.7125405T>A | CA403671227 | INSR | c.3136A>T (p.Ile1046Phe) c.3100A>T (p.Ile1034Phe) c.3211A>T (p.Ile1071Phe) c.3175A>T (p.Ile1059Phe) c.3133A>T (p.Ile1045Phe) c.3097A>T (p.Ile1033Phe) | |
19 | g.7125405T>C | CA403671228 | INSR | c.3136A>G (p.Ile1046Val) c.3100A>G (p.Ile1034Val) c.3211A>G (p.Ile1071Val) c.3175A>G (p.Ile1059Val) c.3133A>G (p.Ile1045Val) c.3097A>G (p.Ile1033Val) | |
19 | g.7125405T>G | CA403671229 | INSR | c.3136A>C (p.Ile1046Leu) c.3100A>C (p.Ile1034Leu) c.3211A>C (p.Ile1071Leu) c.3175A>C (p.Ile1059Leu) c.3133A>C (p.Ile1045Leu) c.3097A>C (p.Ile1033Leu) | COSMIC COSMIC |
19 | g.7125406G>A | CA505400236 | INSR | c.3135C>T (p.Ile1045=) c.3099C>T (p.Ile1033=) c.3210C>T (p.Ile1070=) c.3174C>T (p.Ile1058=) c.3132C>T (p.Ile1044=) c.3096C>T (p.Ile1032=) | |
19 | g.7125406G>C | CA403671230 | INSR | c.3135C>G (p.Ile1045Met) c.3099C>G (p.Ile1033Met) c.3210C>G (p.Ile1070Met) c.3174C>G (p.Ile1058Met) c.3132C>G (p.Ile1044Met) c.3096C>G (p.Ile1032Met) | |
19 | g.7125406G>T | CA505400235 | INSR | c.3135C>A (p.Ile1045=) c.3099C>A (p.Ile1033=) c.3210C>A (p.Ile1070=) c.3174C>A (p.Ile1058=) c.3132C>A (p.Ile1044=) c.3096C>A (p.Ile1032=) | |
19 | g.7125407A>C | CA403671231 | INSR | c.3134T>G (p.Ile1045Ser) c.3098T>G (p.Ile1033Ser) c.3209T>G (p.Ile1070Ser) c.3173T>G (p.Ile1058Ser) c.3131T>G (p.Ile1044Ser) c.3095T>G (p.Ile1032Ser) | |
19 | g.7125407A>G | CA403671233 | INSR | c.3134T>C (p.Ile1045Thr) c.3098T>C (p.Ile1033Thr) c.3209T>C (p.Ile1070Thr) c.3173T>C (p.Ile1058Thr) c.3131T>C (p.Ile1044Thr) c.3095T>C (p.Ile1032Thr) | |
19 | g.7125407A>T | CA403671232 | INSR | c.3134T>A (p.Ile1045Asn) c.3098T>A (p.Ile1033Asn) c.3209T>A (p.Ile1070Asn) c.3173T>A (p.Ile1058Asn) c.3131T>A (p.Ile1044Asn) c.3095T>A (p.Ile1032Asn) | |
19 | g.7125408T>A | CA403671234 | INSR | c.3133A>T (p.Ile1045Phe) c.3097A>T (p.Ile1033Phe) c.3208A>T (p.Ile1070Phe) c.3172A>T (p.Ile1058Phe) c.3130A>T (p.Ile1044Phe) c.3094A>T (p.Ile1032Phe) | |
19 | g.7125408T>C | CA403671235 | INSR | c.3133A>G (p.Ile1045Val) c.3097A>G (p.Ile1033Val) c.3208A>G (p.Ile1070Val) c.3172A>G (p.Ile1058Val) c.3130A>G (p.Ile1044Val) c.3094A>G (p.Ile1032Val) | |
19 | g.7125408T>G | CA403671236 | INSR | c.3133A>C (p.Ile1045Leu) c.3097A>C (p.Ile1033Leu) c.3208A>C (p.Ile1070Leu) c.3172A>C (p.Ile1058Leu) c.3130A>C (p.Ile1044Leu) c.3094A>C (p.Ile1032Leu) | |
19 | g.7125409G>A | CA9135354 | INSR | c.3132C>T (p.Asp1044=) c.3096C>T (p.Asp1032=) c.3207C>T (p.Asp1069=) c.3171C>T (p.Asp1057=) c.3129C>T (p.Asp1043=) c.3093C>T (p.Asp1031=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7125409G>C | CA403671237 | INSR | c.3132C>G (p.Asp1044Glu) c.3096C>G (p.Asp1032Glu) c.3207C>G (p.Asp1069Glu) c.3171C>G (p.Asp1057Glu) c.3129C>G (p.Asp1043Glu) c.3093C>G (p.Asp1031Glu) | |
19 | g.7125409G= | CA2320767954 | INSR | c.3132C= (p.Asp1044=) c.3096C= (p.Asp1032=) c.3207C= (p.Asp1069=) c.3171C= (p.Asp1057=) c.3129C= (p.Asp1043=) c.3093C= (p.Asp1031=) | |
19 | g.7125409G>T | CA403671238 | INSR | c.3132C>A (p.Asp1044Glu) c.3096C>A (p.Asp1032Glu) c.3207C>A (p.Asp1069Glu) c.3171C>A (p.Asp1057Glu) c.3129C>A (p.Asp1043Glu) c.3093C>A (p.Asp1031Glu) | |
19 | g.7125410T>A | CA403671239 | INSR | c.3131A>T (p.Asp1044Val) c.3095A>T (p.Asp1032Val) c.3206A>T (p.Asp1069Val) c.3170A>T (p.Asp1057Val) c.3128A>T (p.Asp1043Val) c.3092A>T (p.Asp1031Val) | |
19 | g.7125410T>C | CA403671240 | INSR | c.3131A>G (p.Asp1044Gly) c.3095A>G (p.Asp1032Gly) c.3206A>G (p.Asp1069Gly) c.3170A>G (p.Asp1057Gly) c.3128A>G (p.Asp1043Gly) c.3092A>G (p.Asp1031Gly) | gnomAD v4 |
19 | g.7125410T>G | CA403671241 | INSR | c.3131A>C (p.Asp1044Ala) c.3095A>C (p.Asp1032Ala) c.3206A>C (p.Asp1069Ala) c.3170A>C (p.Asp1057Ala) c.3128A>C (p.Asp1043Ala) c.3092A>C (p.Asp1031Ala) | |
19 | g.7125411C>A | CA403671242 | INSR | c.3130G>T (p.Asp1044Tyr) c.3094G>T (p.Asp1032Tyr) c.3205G>T (p.Asp1069Tyr) c.3169G>T (p.Asp1057Tyr) c.3127G>T (p.Asp1043Tyr) c.3091G>T (p.Asp1031Tyr) | dbSNP |
19 | g.7125411C>G | CA403671243 | INSR | c.3130G>C (p.Asp1044His) c.3094G>C (p.Asp1032His) c.3205G>C (p.Asp1069His) c.3169G>C (p.Asp1057His) c.3127G>C (p.Asp1043His) c.3091G>C (p.Asp1031His) | |
19 | g.7125411C>T | CA403671244 | INSR | c.3130G>A (p.Asp1044Asn) c.3094G>A (p.Asp1032Asn) c.3205G>A (p.Asp1069Asn) c.3169G>A (p.Asp1057Asn) c.3127G>A (p.Asp1043Asn) c.3091G>A (p.Asp1031Asn) | |
19 | g.7125412C>A | CA403671246 | INSR | c.3129G>T (p.Arg1043Ser) c.3093G>T (p.Arg1031Ser) c.3204G>T (p.Arg1068Ser) c.3168G>T (p.Arg1056Ser) c.3126G>T (p.Arg1042Ser) c.3090G>T (p.Arg1030Ser) | |
19 | g.7125412C= | CA2320767955 | INSR | c.3129G= (p.Arg1043=) c.3093G= (p.Arg1031=) c.3204G= (p.Arg1068=) c.3168G= (p.Arg1056=) c.3126G= (p.Arg1042=) c.3090G= (p.Arg1030=) | |
19 | g.7125412C>G | CA403671245 | INSR | c.3129G>C (p.Arg1043Ser) c.3093G>C (p.Arg1031Ser) c.3204G>C (p.Arg1068Ser) c.3168G>C (p.Arg1056Ser) c.3126G>C (p.Arg1042Ser) c.3090G>C (p.Arg1030Ser) | |
19 | g.7125412C>T | CA9135355 | INSR | c.3129G>A (p.Arg1043=) c.3093G>A (p.Arg1031=) c.3204G>A (p.Arg1068=) c.3168G>A (p.Arg1056=) c.3126G>A (p.Arg1042=) c.3090G>A (p.Arg1030=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7125412_7125413insAGTGGGGGTGGGACATGGG | CA2735470696 | INSR | c.3128_3129insCCCATGTCCCACCCCCACT (p.Arg1043SerfsTer13) c.3092_3093insCCCATGTCCCACCCCCACT (p.Arg1031SerfsTer13) c.3203_3204insCCCATGTCCCACCCCCACT (p.Arg1068SerfsTer13) c.3167_3168insCCCATGTCCCACCCCCACT (p.Arg1056SerfsTer13) c.3125_3126insCCCATGTCCCACCCCCACT (p.Arg1042SerfsTer13) c.3089_3090insCCCATGTCCCACCCCCACT (p.Arg1030SerfsTer13) | dbSNP |
19 | g.7125413C>A | CA403671247 | INSR | c.3128G>T (p.Arg1043Met) c.3092G>T (p.Arg1031Met) c.3203G>T (p.Arg1068Met) c.3167G>T (p.Arg1056Met) c.3125G>T (p.Arg1042Met) c.3089G>T (p.Arg1030Met) | |
19 | g.7125413C>G | CA403671248 | INSR | c.3128G>C (p.Arg1043Thr) c.3092G>C (p.Arg1031Thr) c.3203G>C (p.Arg1068Thr) c.3167G>C (p.Arg1056Thr) c.3125G>C (p.Arg1042Thr) c.3089G>C (p.Arg1030Thr) | |
19 | g.7125413C>T | CA403671249 | INSR | c.3128G>A (p.Arg1043Lys) c.3092G>A (p.Arg1031Lys) c.3203G>A (p.Arg1068Lys) c.3167G>A (p.Arg1056Lys) c.3125G>A (p.Arg1042Lys) c.3089G>A (p.Arg1030Lys) | |
19 | g.7125414T>A | CA403671250 | INSR | c.3127A>T (p.Arg1043Trp) c.3091A>T (p.Arg1031Trp) c.3202A>T (p.Arg1068Trp) c.3166A>T (p.Arg1056Trp) c.3124A>T (p.Arg1042Trp) c.3088A>T (p.Arg1030Trp) | |
19 | g.7125414T>C | CA403671251 | INSR | c.3127A>G (p.Arg1043Gly) c.3091A>G (p.Arg1031Gly) c.3202A>G (p.Arg1068Gly) c.3166A>G (p.Arg1056Gly) c.3124A>G (p.Arg1042Gly) c.3088A>G (p.Arg1030Gly) | |
19 | g.7125414T>G | CA505400237 | INSR | c.3127A>C (p.Arg1043=) c.3091A>C (p.Arg1031=) c.3202A>C (p.Arg1068=) c.3166A>C (p.Arg1056=) c.3124A>C (p.Arg1042=) c.3088A>C (p.Arg1030=) | |
19 | g.7125415G>A | CA505400240 | INSR | c.3126C>T (p.Ala1042=) c.3090C>T (p.Ala1030=) c.3201C>T (p.Ala1067=) c.3165C>T (p.Ala1055=) c.3123C>T (p.Ala1041=) c.3087C>T (p.Ala1029=) | |
19 | g.7125415G>C | CA505400239 | INSR | c.3126C>G (p.Ala1042=) c.3090C>G (p.Ala1030=) c.3201C>G (p.Ala1067=) c.3165C>G (p.Ala1055=) c.3123C>G (p.Ala1041=) c.3087C>G (p.Ala1029=) | |
19 | g.7125415G>T | CA505400238 | INSR | c.3126C>A (p.Ala1042=) c.3090C>A (p.Ala1030=) c.3201C>A (p.Ala1067=) c.3165C>A (p.Ala1055=) c.3123C>A (p.Ala1041=) c.3087C>A (p.Ala1029=) | |
19 | g.7125416G>A | CA403671252 | INSR | c.3125C>T (p.Ala1042Val) c.3089C>T (p.Ala1030Val) c.3200C>T (p.Ala1067Val) c.3164C>T (p.Ala1055Val) c.3122C>T (p.Ala1041Val) c.3086C>T (p.Ala1029Val) | |
19 | g.7125416G>C | CA403671253 | INSR | c.3125C>G (p.Ala1042Gly) c.3089C>G (p.Ala1030Gly) c.3200C>G (p.Ala1067Gly) c.3164C>G (p.Ala1055Gly) c.3122C>G (p.Ala1041Gly) c.3086C>G (p.Ala1029Gly) | |
19 | g.7125416G>T | CA403671254 | INSR | c.3125C>A (p.Ala1042Asp) c.3089C>A (p.Ala1030Asp) c.3200C>A (p.Ala1067Asp) c.3164C>A (p.Ala1055Asp) c.3122C>A (p.Ala1041Asp) c.3086C>A (p.Ala1029Asp) | |
19 | g.7125417C>A | CA403671255 | INSR | c.3124G>T (p.Ala1042Ser) c.3088G>T (p.Ala1030Ser) c.3199G>T (p.Ala1067Ser) c.3163G>T (p.Ala1055Ser) c.3121G>T (p.Ala1041Ser) c.3085G>T (p.Ala1029Ser) | |
19 | g.7125417C>G | CA403671256 | INSR | c.3124G>C (p.Ala1042Pro) c.3088G>C (p.Ala1030Pro) c.3199G>C (p.Ala1067Pro) c.3163G>C (p.Ala1055Pro) c.3121G>C (p.Ala1041Pro) c.3085G>C (p.Ala1029Pro) | |
19 | g.7125417C>T | CA403671257 | INSR | c.3124G>A (p.Ala1042Thr) c.3088G>A (p.Ala1030Thr) c.3199G>A (p.Ala1067Thr) c.3163G>A (p.Ala1055Thr) c.3121G>A (p.Ala1041Thr) c.3085G>A (p.Ala1029Thr) | |
19 | g.7125418A>C | CA403671258 | INSR | c.3123T>G (p.Asn1041Lys) c.3087T>G (p.Asn1029Lys) c.3198T>G (p.Asn1066Lys) c.3162T>G (p.Asn1054Lys) c.3120T>G (p.Asn1040Lys) c.3084T>G (p.Asn1028Lys) | COSMIC COSMIC |
19 | g.7125418A>G | CA505400241 | INSR | c.3123T>C (p.Asn1041=) c.3087T>C (p.Asn1029=) c.3198T>C (p.Asn1066=) c.3162T>C (p.Asn1054=) c.3120T>C (p.Asn1040=) c.3084T>C (p.Asn1028=) | |
19 | g.7125418A>T | CA403671259 | INSR | c.3123T>A (p.Asn1041Lys) c.3087T>A (p.Asn1029Lys) c.3198T>A (p.Asn1066Lys) c.3162T>A (p.Asn1054Lys) c.3120T>A (p.Asn1040Lys) c.3084T>A (p.Asn1028Lys) | |
19 | g.7125419T>A | CA403671261 | INSR | c.3122A>T (p.Asn1041Ile) c.3086A>T (p.Asn1029Ile) c.3197A>T (p.Asn1066Ile) c.3161A>T (p.Asn1054Ile) c.3119A>T (p.Asn1040Ile) c.3083A>T (p.Asn1028Ile) | |
19 | g.7125419T>C | CA403671262 | INSR | c.3122A>G (p.Asn1041Ser) c.3086A>G (p.Asn1029Ser) c.3197A>G (p.Asn1066Ser) c.3161A>G (p.Asn1054Ser) c.3119A>G (p.Asn1040Ser) c.3083A>G (p.Asn1028Ser) | gnomAD v4 |
19 | g.7125419T>G | CA403671260 | INSR | c.3122A>C (p.Asn1041Thr) c.3086A>C (p.Asn1029Thr) c.3197A>C (p.Asn1066Thr) c.3161A>C (p.Asn1054Thr) c.3119A>C (p.Asn1040Thr) c.3083A>C (p.Asn1028Thr) | |
19 | g.7125420del | CA2695228019 | INSR | c.3122del (p.Asn1041MetfsTer16) c.3086del (p.Asn1029MetfsTer16) c.3197del (p.Asn1066MetfsTer16) c.3161del (p.Asn1054MetfsTer16) c.3119del (p.Asn1040MetfsTer16) c.3083del (p.Asn1028MetfsTer16) | |
19 | g.7125420T>A | CA403671263 | INSR | c.3121A>T (p.Asn1041Tyr) c.3085A>T (p.Asn1029Tyr) c.3196A>T (p.Asn1066Tyr) c.3160A>T (p.Asn1054Tyr) c.3118A>T (p.Asn1040Tyr) c.3082A>T (p.Asn1028Tyr) | |
19 | g.7125420T>C | CA403671265 | INSR | c.3121A>G (p.Asn1041Asp) c.3085A>G (p.Asn1029Asp) c.3196A>G (p.Asn1066Asp) c.3160A>G (p.Asn1054Asp) c.3118A>G (p.Asn1040Asp) c.3082A>G (p.Asn1028Asp) | gnomAD v4 |
19 | g.7125420T>G | CA403671264 | INSR | c.3121A>C (p.Asn1041His) c.3085A>C (p.Asn1029His) c.3196A>C (p.Asn1066His) c.3160A>C (p.Asn1054His) c.3118A>C (p.Asn1040His) c.3082A>C (p.Asn1028His) | |
19 | g.7125421G>A | CA505400244 | INSR | c.3120C>T (p.Gly1040=) c.3084C>T (p.Gly1028=) c.3195C>T (p.Gly1065=) c.3159C>T (p.Gly1053=) c.3117C>T (p.Gly1039=) c.3081C>T (p.Gly1027=) | |
19 | g.7125421G>C | CA505400243 | INSR | c.3120C>G (p.Gly1040=) c.3084C>G (p.Gly1028=) c.3195C>G (p.Gly1065=) c.3159C>G (p.Gly1053=) c.3117C>G (p.Gly1039=) c.3081C>G (p.Gly1027=) | |
19 | g.7125421G>T | CA505400242 | INSR | c.3120C>A (p.Gly1040=) c.3084C>A (p.Gly1028=) c.3195C>A (p.Gly1065=) c.3159C>A (p.Gly1053=) c.3117C>A (p.Gly1039=) c.3081C>A (p.Gly1027=) | |
19 | g.7125422C>A | CA403671266 | INSR | c.3119G>T (p.Gly1040Val) c.3083G>T (p.Gly1028Val) c.3194G>T (p.Gly1065Val) c.3158G>T (p.Gly1053Val) c.3116G>T (p.Gly1039Val) c.3080G>T (p.Gly1027Val) | |
19 | g.7125422C= | CA2320767956 | INSR | c.3119G= (p.Gly1040=) c.3083G= (p.Gly1028=) c.3194G= (p.Gly1065=) c.3158G= (p.Gly1053=) c.3116G= (p.Gly1039=) c.3080G= (p.Gly1027=) | |
19 | g.7125422C>G | CA403671268 | INSR | c.3119G>C (p.Gly1040Ala) c.3083G>C (p.Gly1028Ala) c.3194G>C (p.Gly1065Ala) c.3158G>C (p.Gly1053Ala) c.3116G>C (p.Gly1039Ala) c.3080G>C (p.Gly1027Ala) | dbSNP gnomAD v4 |
19 | g.7125422C>T | CA403671267 | INSR | c.3119G>A (p.Gly1040Asp) c.3083G>A (p.Gly1028Asp) c.3194G>A (p.Gly1065Asp) c.3158G>A (p.Gly1053Asp) c.3116G>A (p.Gly1039Asp) c.3080G>A (p.Gly1027Asp) | |
19 | g.7125424del | CA2842346608 | INSR | c.3119del (p.Gly1040AlafsTer17) c.3083del (p.Gly1028AlafsTer17) c.3194del (p.Gly1065AlafsTer17) c.3158del (p.Gly1053AlafsTer17) c.3116del (p.Gly1039AlafsTer17) c.3080del (p.Gly1027AlafsTer17) | |
19 | g.7125423C>A | CA304873391 | INSR | c.3118G>T (p.Gly1040Cys) c.3082G>T (p.Gly1028Cys) c.3193G>T (p.Gly1065Cys) c.3157G>T (p.Gly1053Cys) c.3115G>T (p.Gly1039Cys) c.3079G>T (p.Gly1027Cys) | dbSNP |
19 | g.7125423C= | CA2320767957 | INSR | c.3118G= (p.Gly1040=) c.3082G= (p.Gly1028=) c.3193G= (p.Gly1065=) c.3157G= (p.Gly1053=) c.3115G= (p.Gly1039=) c.3079G= (p.Gly1027=) | |
19 | g.7125423C>G | CA403671269 | INSR | c.3118G>C (p.Gly1040Arg) c.3082G>C (p.Gly1028Arg) c.3193G>C (p.Gly1065Arg) c.3157G>C (p.Gly1053Arg) c.3115G>C (p.Gly1039Arg) c.3079G>C (p.Gly1027Arg) | |
19 | g.7125423C>T | CA403671270 | INSR | c.3118G>A (p.Gly1040Ser) c.3082G>A (p.Gly1028Ser) c.3193G>A (p.Gly1065Ser) c.3157G>A (p.Gly1053Ser) c.3115G>A (p.Gly1039Ser) c.3079G>A (p.Gly1027Ser) | |
19 | g.7125424C>A | CA403671271 | INSR | c.3117G>T (p.Glu1039Asp) c.3081G>T (p.Glu1027Asp) c.3192G>T (p.Glu1064Asp) c.3156G>T (p.Glu1052Asp) c.3114G>T (p.Glu1038Asp) c.3078G>T (p.Glu1026Asp) | |
19 | g.7125424C= | CA2320767958 | INSR | c.3117G= (p.Glu1039=) c.3081G= (p.Glu1027=) c.3192G= (p.Glu1064=) c.3156G= (p.Glu1052=) c.3114G= (p.Glu1038=) c.3078G= (p.Glu1026=) | |
19 | g.7125424C>G | CA403671272 | INSR | c.3117G>C (p.Glu1039Asp) c.3081G>C (p.Glu1027Asp) c.3192G>C (p.Glu1064Asp) c.3156G>C (p.Glu1052Asp) c.3114G>C (p.Glu1038Asp) c.3078G>C (p.Glu1026Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7125424C>T | CA9135356 | INSR | c.3117G>A (p.Glu1039=) c.3081G>A (p.Glu1027=) c.3192G>A (p.Glu1064=) c.3156G>A (p.Glu1052=) c.3114G>A (p.Glu1038=) c.3078G>A (p.Glu1026=) | dbSNP ExAC gnomAD v2 |
19 | g.7125425T>A | CA403671273 | INSR | c.3116A>T (p.Glu1039Val) c.3080A>T (p.Glu1027Val) c.3191A>T (p.Glu1064Val) c.3155A>T (p.Glu1052Val) c.3113A>T (p.Glu1038Val) c.3077A>T (p.Glu1026Val) | |
19 | g.7125425T>C | CA403671274 | INSR | c.3116A>G (p.Glu1039Gly) c.3080A>G (p.Glu1027Gly) c.3191A>G (p.Glu1064Gly) c.3155A>G (p.Glu1052Gly) c.3113A>G (p.Glu1038Gly) c.3077A>G (p.Glu1026Gly) | |
19 | g.7125425T>G | CA403671275 | INSR | c.3116A>C (p.Glu1039Ala) c.3080A>C (p.Glu1027Ala) c.3191A>C (p.Glu1064Ala) c.3155A>C (p.Glu1052Ala) c.3113A>C (p.Glu1038Ala) c.3077A>C (p.Glu1026Ala) | |
19 | g.7125426C>A | CA403671276 | INSR | c.3115G>T (p.Glu1039Ter) c.3079G>T (p.Glu1027Ter) c.3190G>T (p.Glu1064Ter) c.3154G>T (p.Glu1052Ter) c.3112G>T (p.Glu1038Ter) c.3076G>T (p.Glu1026Ter) | |
19 | g.7125426C>G | CA403671277 | INSR | c.3115G>C (p.Glu1039Gln) c.3079G>C (p.Glu1027Gln) c.3190G>C (p.Glu1064Gln) c.3154G>C (p.Glu1052Gln) c.3112G>C (p.Glu1038Gln) c.3076G>C (p.Glu1026Gln) | |
19 | g.7125426C>T | CA403671278 | INSR | c.3115G>A (p.Glu1039Lys) c.3079G>A (p.Glu1027Lys) c.3190G>A (p.Glu1064Lys) c.3154G>A (p.Glu1052Lys) c.3112G>A (p.Glu1038Lys) c.3076G>A (p.Glu1026Lys) | |
19 | g.7125427A= | CA2320767959 | INSR | c.3114T= (p.Tyr1038=) c.3078T= (p.Tyr1026=) c.3189T= (p.Tyr1063=) c.3153T= (p.Tyr1051=) c.3111T= (p.Tyr1037=) c.3075T= (p.Tyr1025=) | |
19 | g.7125427A>C | CA403671280 | INSR | c.3114T>G (p.Tyr1038Ter) c.3078T>G (p.Tyr1026Ter) c.3189T>G (p.Tyr1063Ter) c.3153T>G (p.Tyr1051Ter) c.3111T>G (p.Tyr1037Ter) c.3075T>G (p.Tyr1025Ter) | |
19 | g.7125427A>G | CA9135357 | INSR | c.3114T>C (p.Tyr1038=) c.3078T>C (p.Tyr1026=) c.3189T>C (p.Tyr1063=) c.3153T>C (p.Tyr1051=) c.3111T>C (p.Tyr1037=) c.3075T>C (p.Tyr1025=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7125427A>T | CA403671279 | INSR | c.3114T>A (p.Tyr1038Ter) c.3078T>A (p.Tyr1026Ter) c.3189T>A (p.Tyr1063Ter) c.3153T>A (p.Tyr1051Ter) c.3111T>A (p.Tyr1037Ter) c.3075T>A (p.Tyr1025Ter) | |
19 | g.7125428T>A | CA403671281 | INSR | c.3113A>T (p.Tyr1038Phe) c.3077A>T (p.Tyr1026Phe) c.3188A>T (p.Tyr1063Phe) c.3152A>T (p.Tyr1051Phe) c.3110A>T (p.Tyr1037Phe) c.3074A>T (p.Tyr1025Phe) | |
19 | g.7125428T>C | CA403671282 | INSR | c.3113A>G (p.Tyr1038Cys) c.3077A>G (p.Tyr1026Cys) c.3188A>G (p.Tyr1063Cys) c.3152A>G (p.Tyr1051Cys) c.3110A>G (p.Tyr1037Cys) c.3074A>G (p.Tyr1025Cys) | |
19 | g.7125428T>G | CA403671283 | INSR | c.3113A>C (p.Tyr1038Ser) c.3077A>C (p.Tyr1026Ser) c.3188A>C (p.Tyr1063Ser) c.3152A>C (p.Tyr1051Ser) c.3110A>C (p.Tyr1037Ser) c.3074A>C (p.Tyr1025Ser) | |
19 | g.7125429A= | CA2320767960 | INSR | c.3112T= (p.Tyr1038=) c.3076T= (p.Tyr1026=) c.3187T= (p.Tyr1063=) c.3151T= (p.Tyr1051=) c.3109T= (p.Tyr1037=) c.3073T= (p.Tyr1025=) | |
19 | g.7125429A>C | CA403671284 | INSR | c.3112T>G (p.Tyr1038Asp) c.3076T>G (p.Tyr1026Asp) c.3187T>G (p.Tyr1063Asp) c.3151T>G (p.Tyr1051Asp) c.3109T>G (p.Tyr1037Asp) c.3073T>G (p.Tyr1025Asp) | |
19 | g.7125429A>G | CA403671285 | INSR | c.3112T>C (p.Tyr1038His) c.3076T>C (p.Tyr1026His) c.3187T>C (p.Tyr1063His) c.3151T>C (p.Tyr1051His) c.3109T>C (p.Tyr1037His) c.3073T>C (p.Tyr1025His) | |
19 | g.7125429A>T | CA304873392 | INSR | c.3112T>A (p.Tyr1038Asn) c.3076T>A (p.Tyr1026Asn) c.3187T>A (p.Tyr1063Asn) c.3151T>A (p.Tyr1051Asn) c.3109T>A (p.Tyr1037Asn) c.3073T>A (p.Tyr1025Asn) | dbSNP |
19 | g.7125430C>A | CA505400245 | INSR | c.3111G>T (p.Val1037=) c.3075G>T (p.Val1025=) c.3186G>T (p.Val1062=) c.3150G>T (p.Val1050=) c.3108G>T (p.Val1036=) c.3072G>T (p.Val1024=) | |
19 | g.7125430C= | CA2320767961 | INSR | c.3111G= (p.Val1037=) c.3075G= (p.Val1025=) c.3186G= (p.Val1062=) c.3150G= (p.Val1050=) c.3108G= (p.Val1036=) c.3072G= (p.Val1024=) | |
19 | g.7125430C>G | CA505400246 | INSR | c.3111G>C (p.Val1037=) c.3075G>C (p.Val1025=) c.3186G>C (p.Val1062=) c.3150G>C (p.Val1050=) c.3108G>C (p.Val1036=) c.3072G>C (p.Val1024=) | |
19 | g.7125430C>T | CA9135358 | INSR | c.3111G>A (p.Val1037=) c.3075G>A (p.Val1025=) c.3186G>A (p.Val1062=) c.3150G>A (p.Val1050=) c.3108G>A (p.Val1036=) c.3072G>A (p.Val1024=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7125431A>C | CA403671286 | INSR | c.3110T>G (p.Val1037Gly) c.3074T>G (p.Val1025Gly) c.3185T>G (p.Val1062Gly) c.3149T>G (p.Val1050Gly) c.3107T>G (p.Val1036Gly) c.3071T>G (p.Val1024Gly) | |
19 | g.7125431A>G | CA403671287 | INSR | c.3110T>C (p.Val1037Ala) c.3074T>C (p.Val1025Ala) c.3185T>C (p.Val1062Ala) c.3149T>C (p.Val1050Ala) c.3107T>C (p.Val1036Ala) c.3071T>C (p.Val1024Ala) | |
19 | g.7125431A>T | CA403671288 | INSR | c.3110T>A (p.Val1037Glu) c.3074T>A (p.Val1025Glu) c.3185T>A (p.Val1062Glu) c.3149T>A (p.Val1050Glu) c.3107T>A (p.Val1036Glu) c.3071T>A (p.Val1024Glu) | |
19 | g.7125432C>A | CA403671291 | INSR | c.3109G>T (p.Val1037Leu) c.3073G>T (p.Val1025Leu) c.3184G>T (p.Val1062Leu) c.3148G>T (p.Val1050Leu) c.3106G>T (p.Val1036Leu) c.3070G>T (p.Val1024Leu) | |
19 | g.7125432C= | CA2320767962 | INSR | c.3109G= (p.Val1037=) c.3073G= (p.Val1025=) c.3184G= (p.Val1062=) c.3148G= (p.Val1050=) c.3106G= (p.Val1036=) c.3070G= (p.Val1024=) | |
19 | g.7125432C>G | CA403671290 | INSR | c.3109G>C (p.Val1037Leu) c.3073G>C (p.Val1025Leu) c.3184G>C (p.Val1062Leu) c.3148G>C (p.Val1050Leu) c.3106G>C (p.Val1036Leu) c.3070G>C (p.Val1024Leu) | dbSNP gnomAD v4 |
19 | g.7125432C>T | CA403671289 | INSR | c.3109G>A (p.Val1037Met) c.3073G>A (p.Val1025Met) c.3184G>A (p.Val1062Met) c.3148G>A (p.Val1050Met) c.3106G>A (p.Val1036Met) c.3070G>A (p.Val1024Met) | |
19 | g.7125433C>A | CA403671292 | INSR | c.3108G>T (p.Met1036Ile) c.3072G>T (p.Met1024Ile) c.3183G>T (p.Met1061Ile) c.3147G>T (p.Met1049Ile) c.3105G>T (p.Met1035Ile) c.3069G>T (p.Met1023Ile) | |
19 | g.7125433C>G | CA403671293 | INSR | c.3108G>C (p.Met1036Ile) c.3072G>C (p.Met1024Ile) c.3183G>C (p.Met1061Ile) c.3147G>C (p.Met1049Ile) c.3105G>C (p.Met1035Ile) c.3069G>C (p.Met1023Ile) | |
19 | g.7125433C>T | CA403671294 | INSR | c.3108G>A (p.Met1036Ile) c.3072G>A (p.Met1024Ile) c.3183G>A (p.Met1061Ile) c.3147G>A (p.Met1049Ile) c.3105G>A (p.Met1035Ile) c.3069G>A (p.Met1023Ile) | |
19 | g.7125434A= | CA2320767963 | INSR | c.3107T= (p.Met1036=) c.3071T= (p.Met1024=) c.3182T= (p.Met1061=) c.3146T= (p.Met1049=) c.3104T= (p.Met1035=) c.3068T= (p.Met1023=) | |
19 | g.7125434A>C | CA403671295 | INSR | c.3107T>G (p.Met1036Arg) c.3071T>G (p.Met1024Arg) c.3182T>G (p.Met1061Arg) c.3146T>G (p.Met1049Arg) c.3104T>G (p.Met1035Arg) c.3068T>G (p.Met1023Arg) | |
19 | g.7125434A>G | CA403671296 | INSR | c.3107T>C (p.Met1036Thr) c.3071T>C (p.Met1024Thr) c.3182T>C (p.Met1061Thr) c.3146T>C (p.Met1049Thr) c.3104T>C (p.Met1035Thr) c.3068T>C (p.Met1023Thr) | dbSNP gnomAD v4 |
19 | g.7125434A>T | CA403671297 | INSR | c.3107T>A (p.Met1036Lys) c.3071T>A (p.Met1024Lys) c.3182T>A (p.Met1061Lys) c.3146T>A (p.Met1049Lys) c.3104T>A (p.Met1035Lys) c.3068T>A (p.Met1023Lys) | |
19 | g.7125435T>A | CA403671298 | INSR | c.3106A>T (p.Met1036Leu) c.3070A>T (p.Met1024Leu) c.3181A>T (p.Met1061Leu) c.3145A>T (p.Met1049Leu) c.3103A>T (p.Met1035Leu) c.3067A>T (p.Met1023Leu) | |
19 | g.7125435T>C | CA403671299 | INSR | c.3106A>G (p.Met1036Val) c.3070A>G (p.Met1024Val) c.3181A>G (p.Met1061Val) c.3145A>G (p.Met1049Val) c.3103A>G (p.Met1035Val) c.3067A>G (p.Met1023Val) | |
19 | g.7125435T>G | CA403671300 | INSR | c.3106A>C (p.Met1036Leu) c.3070A>C (p.Met1024Leu) c.3181A>C (p.Met1061Leu) c.3145A>C (p.Met1049Leu) c.3103A>C (p.Met1035Leu) c.3067A>C (p.Met1023Leu) | |
19 | g.7125436G>A | CA505400247 | INSR | c.3105C>T (p.Gly1035=) c.3069C>T (p.Gly1023=) c.3180C>T (p.Gly1060=) c.3144C>T (p.Gly1048=) c.3102C>T (p.Gly1034=) c.3066C>T (p.Gly1022=) | gnomAD v4 |
19 | g.7125436G>C | CA505400248 | INSR | c.3105C>G (p.Gly1035=) c.3069C>G (p.Gly1023=) c.3180C>G (p.Gly1060=) c.3144C>G (p.Gly1048=) c.3102C>G (p.Gly1034=) c.3066C>G (p.Gly1022=) | |
19 | g.7125436G>T | CA505400249 | INSR | c.3105C>A (p.Gly1035=) c.3069C>A (p.Gly1023=) c.3180C>A (p.Gly1060=) c.3144C>A (p.Gly1048=) c.3102C>A (p.Gly1034=) c.3066C>A (p.Gly1022=) | gnomAD v4 |
19 | g.7125437C>A | CA124211 | INSR | c.3104G>T (p.Gly1035Val) c.3068G>T (p.Gly1023Val) c.3179G>T (p.Gly1060Val) c.3143G>T (p.Gly1048Val) c.3101G>T (p.Gly1034Val) c.3065G>T (p.Gly1022Val) | ClinVar dbSNP |
19 | g.7125437C= | CA2320767964 | INSR | c.3104G= (p.Gly1035=) c.3068G= (p.Gly1023=) c.3179G= (p.Gly1060=) c.3143G= (p.Gly1048=) c.3101G= (p.Gly1034=) c.3065G= (p.Gly1022=) | |
19 | g.7125437C>G | CA403671301 | INSR | c.3104G>C (p.Gly1035Ala) c.3068G>C (p.Gly1023Ala) c.3179G>C (p.Gly1060Ala) c.3143G>C (p.Gly1048Ala) c.3101G>C (p.Gly1034Ala) c.3065G>C (p.Gly1022Ala) | |
19 | g.7125437C>T | CA403671302 | INSR | c.3104G>A (p.Gly1035Asp) c.3068G>A (p.Gly1023Asp) c.3179G>A (p.Gly1060Asp) c.3143G>A (p.Gly1048Asp) c.3101G>A (p.Gly1034Asp) c.3065G>A (p.Gly1022Asp) | |
19 | g.7125438C>A | CA403671304 | INSR | c.3103G>T (p.Gly1035Cys) c.3067G>T (p.Gly1023Cys) c.3178G>T (p.Gly1060Cys) c.3142G>T (p.Gly1048Cys) c.3100G>T (p.Gly1034Cys) c.3064G>T (p.Gly1022Cys) | dbSNP |
19 | g.7125438C= | CA2320767965 | INSR | c.3103G= (p.Gly1035=) c.3067G= (p.Gly1023=) c.3178G= (p.Gly1060=) c.3142G= (p.Gly1048=) c.3100G= (p.Gly1034=) c.3064G= (p.Gly1022=) | |
19 | g.7125438C>G | CA403671303 | INSR | c.3103G>C (p.Gly1035Arg) c.3067G>C (p.Gly1023Arg) c.3178G>C (p.Gly1060Arg) c.3142G>C (p.Gly1048Arg) c.3100G>C (p.Gly1034Arg) c.3064G>C (p.Gly1022Arg) | |
19 | g.7125438C>T | CA9135359 | INSR | c.3103G>A (p.Gly1035Ser) c.3067G>A (p.Gly1023Ser) c.3178G>A (p.Gly1060Ser) c.3142G>A (p.Gly1048Ser) c.3100G>A (p.Gly1034Ser) c.3064G>A (p.Gly1022Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7125439G>A | CA9135360 | INSR | c.3102C>T (p.Phe1034=) c.3066C>T (p.Phe1022=) c.3177C>T (p.Phe1059=) c.3141C>T (p.Phe1047=) c.3099C>T (p.Phe1033=) c.3063C>T (p.Phe1021=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7125439G>C | CA403671305 | INSR | c.3102C>G (p.Phe1034Leu) c.3066C>G (p.Phe1022Leu) c.3177C>G (p.Phe1059Leu) c.3141C>G (p.Phe1047Leu) c.3099C>G (p.Phe1033Leu) c.3063C>G (p.Phe1021Leu) | |
19 | g.7125439G= | CA2320767966 | INSR | c.3102C= (p.Phe1034=) c.3066C= (p.Phe1022=) c.3177C= (p.Phe1059=) c.3141C= (p.Phe1047=) c.3099C= (p.Phe1033=) c.3063C= (p.Phe1021=) | |
19 | g.7125439G>T | CA403671306 | INSR | c.3102C>A (p.Phe1034Leu) c.3066C>A (p.Phe1022Leu) c.3177C>A (p.Phe1059Leu) c.3141C>A (p.Phe1047Leu) c.3099C>A (p.Phe1033Leu) c.3063C>A (p.Phe1021Leu) | |
19 | g.7125440A>C | CA403671307 | INSR | c.3101T>G (p.Phe1034Cys) c.3065T>G (p.Phe1022Cys) c.3176T>G (p.Phe1059Cys) c.3140T>G (p.Phe1047Cys) c.3098T>G (p.Phe1033Cys) c.3062T>G (p.Phe1021Cys) | |
19 | g.7125440A>G | CA403671308 | INSR | c.3101T>C (p.Phe1034Ser) c.3065T>C (p.Phe1022Ser) c.3176T>C (p.Phe1059Ser) c.3140T>C (p.Phe1047Ser) c.3098T>C (p.Phe1033Ser) c.3062T>C (p.Phe1021Ser) | |
19 | g.7125440A>T | CA403671309 | INSR | c.3101T>A (p.Phe1034Tyr) c.3065T>A (p.Phe1022Tyr) c.3176T>A (p.Phe1059Tyr) c.3140T>A (p.Phe1047Tyr) c.3098T>A (p.Phe1033Tyr) c.3062T>A (p.Phe1021Tyr) | |
19 | g.7125441A>C | CA403671310 | INSR | c.3100T>G (p.Phe1034Val) c.3064T>G (p.Phe1022Val) c.3175T>G (p.Phe1059Val) c.3139T>G (p.Phe1047Val) c.3097T>G (p.Phe1033Val) c.3061T>G (p.Phe1021Val) | |
19 | g.7125441A>G | CA403671311 | INSR | c.3100T>C (p.Phe1034Leu) c.3064T>C (p.Phe1022Leu) c.3175T>C (p.Phe1059Leu) c.3139T>C (p.Phe1047Leu) c.3097T>C (p.Phe1033Leu) c.3061T>C (p.Phe1021Leu) | |
19 | g.7125441A>T | CA403671312 | INSR | c.3100T>A (p.Phe1034Ile) c.3064T>A (p.Phe1022Ile) c.3175T>A (p.Phe1059Ile) c.3139T>A (p.Phe1047Ile) c.3097T>A (p.Phe1033Ile) c.3061T>A (p.Phe1021Ile) | |
19 | g.7125442G>A | CA505400250 | INSR | c.3099C>T (p.Ser1033=) c.3063C>T (p.Ser1021=) c.3174C>T (p.Ser1058=) c.3138C>T (p.Ser1046=) c.3096C>T (p.Ser1032=) c.3060C>T (p.Ser1020=) | |
19 | g.7125442G>C | CA505400251 | INSR | c.3099C>G (p.Ser1033=) c.3063C>G (p.Ser1021=) c.3174C>G (p.Ser1058=) c.3138C>G (p.Ser1046=) c.3096C>G (p.Ser1032=) c.3060C>G (p.Ser1020=) | |
19 | g.7125442G>T | CA505400252 | INSR | c.3099C>A (p.Ser1033=) c.3063C>A (p.Ser1021=) c.3174C>A (p.Ser1058=) c.3138C>A (p.Ser1046=) c.3096C>A (p.Ser1032=) c.3060C>A (p.Ser1020=) | |
19 | g.7125443G>A | CA9135361 | INSR | c.3098C>T (p.Ser1033Phe) c.3062C>T (p.Ser1021Phe) c.3173C>T (p.Ser1058Phe) c.3137C>T (p.Ser1046Phe) c.3095C>T (p.Ser1032Phe) c.3059C>T (p.Ser1020Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.7125443G>C | CA403671313 | INSR | c.3098C>G (p.Ser1033Cys) c.3062C>G (p.Ser1021Cys) c.3173C>G (p.Ser1058Cys) c.3137C>G (p.Ser1046Cys) c.3095C>G (p.Ser1032Cys) c.3059C>G (p.Ser1020Cys) | |
19 | g.7125443G= | CA2320767967 | INSR | c.3098C= (p.Ser1033=) c.3062C= (p.Ser1021=) c.3173C= (p.Ser1058=) c.3137C= (p.Ser1046=) c.3095C= (p.Ser1032=) c.3059C= (p.Ser1020=) | |
19 | g.7125443G>T | CA403671314 | INSR | c.3098C>A (p.Ser1033Tyr) c.3062C>A (p.Ser1021Tyr) c.3173C>A (p.Ser1058Tyr) c.3137C>A (p.Ser1046Tyr) c.3095C>A (p.Ser1032Tyr) c.3059C>A (p.Ser1020Tyr) | |
19 | g.7125444A>C | CA403671317 | INSR | c.3097T>G (p.Ser1033Ala) c.3061T>G (p.Ser1021Ala) c.3172T>G (p.Ser1058Ala) c.3136T>G (p.Ser1046Ala) c.3094T>G (p.Ser1032Ala) c.3058T>G (p.Ser1020Ala) | |
19 | g.7125444A>G | CA403671316 | INSR | c.3097T>C (p.Ser1033Pro) c.3061T>C (p.Ser1021Pro) c.3172T>C (p.Ser1058Pro) c.3136T>C (p.Ser1046Pro) c.3094T>C (p.Ser1032Pro) c.3058T>C (p.Ser1020Pro) | |
19 | g.7125444A>T | CA403671315 | INSR | c.3097T>A (p.Ser1033Thr) c.3061T>A (p.Ser1021Thr) c.3172T>A (p.Ser1058Thr) c.3136T>A (p.Ser1046Thr) c.3094T>A (p.Ser1032Thr) c.3058T>A (p.Ser1020Thr) | |
19 | g.7125445G>A | CA505400254 | INSR | c.3096C>T (p.Gly1032=) c.3060C>T (p.Gly1020=) c.3171C>T (p.Gly1057=) c.3135C>T (p.Gly1045=) c.3093C>T (p.Gly1031=) c.3057C>T (p.Gly1019=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7125445G>C | CA505400255 | INSR | c.3096C>G (p.Gly1032=) c.3060C>G (p.Gly1020=) c.3171C>G (p.Gly1057=) c.3135C>G (p.Gly1045=) c.3093C>G (p.Gly1031=) c.3057C>G (p.Gly1019=) | |
19 | g.7125445G= | CA2320767968 | INSR | c.3096C= (p.Gly1032=) c.3060C= (p.Gly1020=) c.3171C= (p.Gly1057=) c.3135C= (p.Gly1045=) c.3093C= (p.Gly1031=) c.3057C= (p.Gly1019=) | |
19 | g.7125445G>T | CA505400253 | INSR | c.3096C>A (p.Gly1032=) c.3060C>A (p.Gly1020=) c.3171C>A (p.Gly1057=) c.3135C>A (p.Gly1045=) c.3093C>A (p.Gly1031=) c.3057C>A (p.Gly1019=) | |
19 | g.7125446C>A | CA403671318 | INSR | c.3095G>T (p.Gly1032Val) c.3059G>T (p.Gly1020Val) c.3170G>T (p.Gly1057Val) c.3134G>T (p.Gly1045Val) c.3092G>T (p.Gly1031Val) c.3056G>T (p.Gly1019Val) | |
19 | g.7125446C>G | CA403671319 | INSR | c.3095G>C (p.Gly1032Ala) c.3059G>C (p.Gly1020Ala) c.3170G>C (p.Gly1057Ala) c.3134G>C (p.Gly1045Ala) c.3092G>C (p.Gly1031Ala) c.3056G>C (p.Gly1019Ala) | |
19 | g.7125446C>T | CA403671320 | INSR | c.3095G>A (p.Gly1032Asp) c.3059G>A (p.Gly1020Asp) c.3170G>A (p.Gly1057Asp) c.3134G>A (p.Gly1045Asp) c.3092G>A (p.Gly1031Asp) c.3056G>A (p.Gly1019Asp) | |
19 | g.7125447C>A | CA403671321 | INSR | c.3094G>T (p.Gly1032Cys) c.3058G>T (p.Gly1020Cys) c.3169G>T (p.Gly1057Cys) c.3133G>T (p.Gly1045Cys) c.3091G>T (p.Gly1031Cys) c.3055G>T (p.Gly1019Cys) | |
19 | g.7125447C>G | CA403671322 | INSR | c.3094G>C (p.Gly1032Arg) c.3058G>C (p.Gly1020Arg) c.3169G>C (p.Gly1057Arg) c.3133G>C (p.Gly1045Arg) c.3091G>C (p.Gly1031Arg) c.3055G>C (p.Gly1019Arg) | |
19 | g.7125447C>T | CA403671323 | INSR | c.3094G>A (p.Gly1032Ser) c.3058G>A (p.Gly1020Ser) c.3169G>A (p.Gly1057Ser) c.3133G>A (p.Gly1045Ser) c.3091G>A (p.Gly1031Ser) c.3055G>A (p.Gly1019Ser) | ClinVar |
19 | g.7125448C>A | CA403671325 | INSR | c.3093G>T (p.Gln1031His) c.3057G>T (p.Gln1019His) c.3168G>T (p.Gln1056His) c.3132G>T (p.Gln1044His) c.3090G>T (p.Gln1030His) c.3054G>T (p.Gln1018His) | |
19 | g.7125448C= | CA2320767969 | INSR | c.3093G= (p.Gln1031=) c.3057G= (p.Gln1019=) c.3168G= (p.Gln1056=) c.3132G= (p.Gln1044=) c.3090G= (p.Gln1030=) c.3054G= (p.Gln1018=) | |
19 | g.7125448C>G | CA403671324 | INSR | c.3093G>C (p.Gln1031His) c.3057G>C (p.Gln1019His) c.3168G>C (p.Gln1056His) c.3132G>C (p.Gln1044His) c.3090G>C (p.Gln1030His) c.3054G>C (p.Gln1018His) | |
19 | g.7125448C>T | CA505400256 | INSR | c.3093G>A (p.Gln1031=) c.3057G>A (p.Gln1019=) c.3168G>A (p.Gln1056=) c.3132G>A (p.Gln1044=) c.3090G>A (p.Gln1030=) c.3054G>A (p.Gln1018=) | dbSNP |
19 | g.7125449T>A | CA403671326 | INSR | c.3092A>T (p.Gln1031Leu) c.3056A>T (p.Gln1019Leu) c.3167A>T (p.Gln1056Leu) c.3131A>T (p.Gln1044Leu) c.3089A>T (p.Gln1030Leu) c.3053A>T (p.Gln1018Leu) | |
19 | g.7125449T>C | CA403671327 | INSR | c.3092A>G (p.Gln1031Arg) c.3056A>G (p.Gln1019Arg) c.3167A>G (p.Gln1056Arg) c.3131A>G (p.Gln1044Arg) c.3089A>G (p.Gln1030Arg) c.3053A>G (p.Gln1018Arg) | |
19 | g.7125449T>G | CA403671328 | INSR | c.3092A>C (p.Gln1031Pro) c.3056A>C (p.Gln1019Pro) c.3167A>C (p.Gln1056Pro) c.3131A>C (p.Gln1044Pro) c.3089A>C (p.Gln1030Pro) c.3053A>C (p.Gln1018Pro) | |
19 | g.7125450G>A | CA403671329 | INSR | c.3091C>T (p.Gln1031Ter) c.3055C>T (p.Gln1019Ter) c.3166C>T (p.Gln1056Ter) c.3130C>T (p.Gln1044Ter) c.3088C>T (p.Gln1030Ter) c.3052C>T (p.Gln1018Ter) | |
19 | g.7125450G>C | CA403671330 | INSR | c.3091C>G (p.Gln1031Glu) c.3055C>G (p.Gln1019Glu) c.3166C>G (p.Gln1056Glu) c.3130C>G (p.Gln1044Glu) c.3088C>G (p.Gln1030Glu) c.3052C>G (p.Gln1018Glu) | |
19 | g.7125450G>T | CA403671331 | INSR | c.3091C>A (p.Gln1031Lys) c.3055C>A (p.Gln1019Lys) c.3166C>A (p.Gln1056Lys) c.3130C>A (p.Gln1044Lys) c.3088C>A (p.Gln1030Lys) c.3052C>A (p.Gln1018Lys) | |
19 | g.7125450dup | CA2842346609 | INSR | c.3091dup (p.Gln1031ProfsTer9) c.3055dup (p.Gln1019ProfsTer9) c.3166dup (p.Gln1056ProfsTer9) c.3130dup (p.Gln1044ProfsTer9) c.3088dup (p.Gln1030ProfsTer9) c.3052dup (p.Gln1018ProfsTer9) | |
19 | g.7125451C>A | CA505400258 | INSR | c.3090G>T (p.Gly1030=) c.3054G>T (p.Gly1018=) c.3165G>T (p.Gly1055=) c.3129G>T (p.Gly1043=) c.3087G>T (p.Gly1029=) c.3051G>T (p.Gly1017=) | gnomAD v4 |
19 | g.7125451C>G | CA505400259 | INSR | c.3090G>C (p.Gly1030=) c.3054G>C (p.Gly1018=) c.3165G>C (p.Gly1055=) c.3129G>C (p.Gly1043=) c.3087G>C (p.Gly1029=) c.3051G>C (p.Gly1017=) | |
19 | g.7125451C>T | CA505400257 | INSR | c.3090G>A (p.Gly1030=) c.3054G>A (p.Gly1018=) c.3165G>A (p.Gly1055=) c.3129G>A (p.Gly1043=) c.3087G>A (p.Gly1029=) c.3051G>A (p.Gly1017=) | gnomAD v4 |
19 | g.7125452C>A | CA403671334 | INSR | c.3089G>T (p.Gly1030Val) c.3053G>T (p.Gly1018Val) c.3164G>T (p.Gly1055Val) c.3128G>T (p.Gly1043Val) c.3086G>T (p.Gly1029Val) c.3050G>T (p.Gly1017Val) | |
19 | g.7125452C>G | CA403671332 | INSR | c.3089G>C (p.Gly1030Ala) c.3053G>C (p.Gly1018Ala) c.3164G>C (p.Gly1055Ala) c.3128G>C (p.Gly1043Ala) c.3086G>C (p.Gly1029Ala) c.3050G>C (p.Gly1017Ala) | |
19 | g.7125452C>T | CA403671333 | INSR | c.3089G>A (p.Gly1030Glu) c.3053G>A (p.Gly1018Glu) c.3164G>A (p.Gly1055Glu) c.3128G>A (p.Gly1043Glu) c.3086G>A (p.Gly1029Glu) c.3050G>A (p.Gly1017Glu) | |
19 | g.7125453C>A | CA403671335 | INSR | c.3088G>T (p.Gly1030Trp) c.3052G>T (p.Gly1018Trp) c.3163G>T (p.Gly1055Trp) c.3127G>T (p.Gly1043Trp) c.3085G>T (p.Gly1029Trp) c.3049G>T (p.Gly1017Trp) | |
19 | g.7125453C>G | CA403671336 | INSR | c.3088G>C (p.Gly1030Arg) c.3052G>C (p.Gly1018Arg) c.3163G>C (p.Gly1055Arg) c.3127G>C (p.Gly1043Arg) c.3085G>C (p.Gly1029Arg) c.3049G>C (p.Gly1017Arg) | |
19 | g.7125453C>T | CA403671337 | INSR | c.3088G>A (p.Gly1030Arg) c.3052G>A (p.Gly1018Arg) c.3163G>A (p.Gly1055Arg) c.3127G>A (p.Gly1043Arg) c.3085G>A (p.Gly1029Arg) c.3049G>A (p.Gly1017Arg) | |
19 | g.7125454C>A | CA505400260 | INSR | c.3087G>T (p.Leu1029=) c.3051G>T (p.Leu1017=) c.3162G>T (p.Leu1054=) c.3126G>T (p.Leu1042=) c.3084G>T (p.Leu1028=) c.3048G>T (p.Leu1016=) | |
19 | g.7125454C>G | CA505400261 | INSR | c.3087G>C (p.Leu1029=) c.3051G>C (p.Leu1017=) c.3162G>C (p.Leu1054=) c.3126G>C (p.Leu1042=) c.3084G>C (p.Leu1028=) c.3048G>C (p.Leu1016=) | |
19 | g.7125454C>T | CA505400262 | INSR | c.3087G>A (p.Leu1029=) c.3051G>A (p.Leu1017=) c.3162G>A (p.Leu1054=) c.3126G>A (p.Leu1042=) c.3084G>A (p.Leu1028=) c.3048G>A (p.Leu1016=) | |
19 | g.7125455_7125475dup | CA2587922098 | INSR | c.3067_3087dup (p.Leu1029_Gly1030insIleThrLeuLeuArgGluLeu) c.3031_3051dup (p.Leu1017_Gly1018insIleThrLeuLeuArgGluLeu) c.3142_3162dup (p.Leu1054_Gly1055insIleThrLeuLeuArgGluLeu) c.3106_3126dup (p.Leu1042_Gly1043insIleThrLeuLeuArgGluLeu) c.3064_3084dup (p.Leu1028_Gly1029insIleThrLeuLeuArgGluLeu) c.3028_3048dup (p.Leu1016_Gly1017insIleThrLeuLeuArgGluLeu) | gnomAD v4 |
19 | g.7125455A>C | CA403671338 | INSR | c.3086T>G (p.Leu1029Arg) c.3050T>G (p.Leu1017Arg) c.3161T>G (p.Leu1054Arg) c.3125T>G (p.Leu1042Arg) c.3083T>G (p.Leu1028Arg) c.3047T>G (p.Leu1016Arg) | |
19 | g.7125455A>G | CA403671339 | INSR | c.3086T>C (p.Leu1029Pro) c.3050T>C (p.Leu1017Pro) c.3161T>C (p.Leu1054Pro) c.3125T>C (p.Leu1042Pro) c.3083T>C (p.Leu1028Pro) c.3047T>C (p.Leu1016Pro) | |
19 | g.7125455A>T | CA403671340 | INSR | c.3086T>A (p.Leu1029Gln) c.3050T>A (p.Leu1017Gln) c.3161T>A (p.Leu1054Gln) c.3125T>A (p.Leu1042Gln) c.3083T>A (p.Leu1028Gln) c.3047T>A (p.Leu1016Gln) | |
19 | g.7125456G>A | CA505400263 | INSR | c.3085C>T (p.Leu1029=) c.3049C>T (p.Leu1017=) c.3160C>T (p.Leu1054=) c.3124C>T (p.Leu1042=) c.3082C>T (p.Leu1028=) c.3046C>T (p.Leu1016=) | gnomAD v4 |
19 | g.7125456G>C | CA403671341 | INSR | c.3085C>G (p.Leu1029Val) c.3049C>G (p.Leu1017Val) c.3160C>G (p.Leu1054Val) c.3124C>G (p.Leu1042Val) c.3082C>G (p.Leu1028Val) c.3046C>G (p.Leu1016Val) | |
19 | g.7125456G>T | CA403671342 | INSR | c.3085C>A (p.Leu1029Met) c.3049C>A (p.Leu1017Met) c.3160C>A (p.Leu1054Met) c.3124C>A (p.Leu1042Met) c.3082C>A (p.Leu1028Met) c.3046C>A (p.Leu1016Met) | |
19 | g.7125457C>A | CA403671343 | INSR | c.3084G>T (p.Glu1028Asp) c.3048G>T (p.Glu1016Asp) c.3159G>T (p.Glu1053Asp) c.3123G>T (p.Glu1041Asp) c.3081G>T (p.Glu1027Asp) c.3045G>T (p.Glu1015Asp) | |
19 | g.7125457C>G | CA403671344 | INSR | c.3084G>C (p.Glu1028Asp) c.3048G>C (p.Glu1016Asp) c.3159G>C (p.Glu1053Asp) c.3123G>C (p.Glu1041Asp) c.3081G>C (p.Glu1027Asp) c.3045G>C (p.Glu1015Asp) | |
19 | g.7125457C>T | CA505400264 | INSR | c.3084G>A (p.Glu1028=) c.3048G>A (p.Glu1016=) c.3159G>A (p.Glu1053=) c.3123G>A (p.Glu1041=) c.3081G>A (p.Glu1027=) c.3045G>A (p.Glu1015=) | |
19 | g.7125458T>A | CA403671345 | INSR | c.3083A>T (p.Glu1028Val) c.3047A>T (p.Glu1016Val) c.3158A>T (p.Glu1053Val) c.3122A>T (p.Glu1041Val) c.3080A>T (p.Glu1027Val) c.3044A>T (p.Glu1015Val) | |
19 | g.7125458T>C | CA403671346 | INSR | c.3083A>G (p.Glu1028Gly) c.3047A>G (p.Glu1016Gly) c.3158A>G (p.Glu1053Gly) c.3122A>G (p.Glu1041Gly) c.3080A>G (p.Glu1027Gly) c.3044A>G (p.Glu1015Gly) | |
19 | g.7125458T>G | CA9135362 | INSR | c.3083A>C (p.Glu1028Ala) c.3047A>C (p.Glu1016Ala) c.3158A>C (p.Glu1053Ala) c.3122A>C (p.Glu1041Ala) c.3080A>C (p.Glu1027Ala) c.3044A>C (p.Glu1015Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7125458T= | CA2320767970 | INSR | c.3083A= (p.Glu1028=) c.3047A= (p.Glu1016=) c.3158A= (p.Glu1053=) c.3122A= (p.Glu1041=) c.3080A= (p.Glu1027=) c.3044A= (p.Glu1015=) | |
19 | g.7125459C>A | CA403671347 | INSR | c.3082G>T (p.Glu1028Ter) c.3046G>T (p.Glu1016Ter) c.3157G>T (p.Glu1053Ter) c.3121G>T (p.Glu1041Ter) c.3079G>T (p.Glu1027Ter) c.3043G>T (p.Glu1015Ter) | |
19 | g.7125459C>G | CA403671349 | INSR | c.3082G>C (p.Glu1028Gln) c.3046G>C (p.Glu1016Gln) c.3157G>C (p.Glu1053Gln) c.3121G>C (p.Glu1041Gln) c.3079G>C (p.Glu1027Gln) c.3043G>C (p.Glu1015Gln) | |
19 | g.7125459C>T | CA403671348 | INSR | c.3082G>A (p.Glu1028Lys) c.3046G>A (p.Glu1016Lys) c.3157G>A (p.Glu1053Lys) c.3121G>A (p.Glu1041Lys) c.3079G>A (p.Glu1027Lys) c.3043G>A (p.Glu1015Lys) | COSMIC COSMIC |
19 | g.7125460T>A | CA505400265 | INSR | c.3081A>T (p.Arg1027=) c.3045A>T (p.Arg1015=) c.3156A>T (p.Arg1052=) c.3120A>T (p.Arg1040=) c.3078A>T (p.Arg1026=) c.3042A>T (p.Arg1014=) | |
19 | g.7125460T>C | CA505400266 | INSR | c.3081A>G (p.Arg1027=) c.3045A>G (p.Arg1015=) c.3156A>G (p.Arg1052=) c.3120A>G (p.Arg1040=) c.3078A>G (p.Arg1026=) c.3042A>G (p.Arg1014=) | |
19 | g.7125460T>G | CA505400267 | INSR | c.3081A>C (p.Arg1027=) c.3045A>C (p.Arg1015=) c.3156A>C (p.Arg1052=) c.3120A>C (p.Arg1040=) c.3078A>C (p.Arg1026=) c.3042A>C (p.Arg1014=) | |
19 | g.7125461C>A | CA403671350 | INSR | c.3080G>T (p.Arg1027Leu) c.3044G>T (p.Arg1015Leu) c.3155G>T (p.Arg1052Leu) c.3119G>T (p.Arg1040Leu) c.3077G>T (p.Arg1026Leu) c.3041G>T (p.Arg1014Leu) | |
19 | g.7125461C= | CA2320767971 | INSR | c.3080G= (p.Arg1027=) c.3044G= (p.Arg1015=) c.3155G= (p.Arg1052=) c.3119G= (p.Arg1040=) c.3077G= (p.Arg1026=) c.3041G= (p.Arg1014=) | |
19 | g.7125461C>G | CA403671351 | INSR | c.3080G>C (p.Arg1027Pro) c.3044G>C (p.Arg1015Pro) c.3155G>C (p.Arg1052Pro) c.3119G>C (p.Arg1040Pro) c.3077G>C (p.Arg1026Pro) c.3041G>C (p.Arg1014Pro) | |
19 | g.7125461C>T | CA9135363 | INSR | c.3080G>A (p.Arg1027Gln) c.3044G>A (p.Arg1015Gln) c.3155G>A (p.Arg1052Gln) c.3119G>A (p.Arg1040Gln) c.3077G>A (p.Arg1026Gln) c.3041G>A (p.Arg1014Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7125462G>A | CA124233 | INSR | c.3079C>T (p.Arg1027Ter) c.3043C>T (p.Arg1015Ter) c.3154C>T (p.Arg1052Ter) c.3118C>T (p.Arg1040Ter) c.3076C>T (p.Arg1026Ter) c.3040C>T (p.Arg1014Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.7125462G>C | CA403671352 | INSR | c.3079C>G (p.Arg1027Gly) c.3043C>G (p.Arg1015Gly) c.3154C>G (p.Arg1052Gly) c.3118C>G (p.Arg1040Gly) c.3076C>G (p.Arg1026Gly) c.3040C>G (p.Arg1014Gly) | |
19 | g.7125462G= | CA2320767972 | INSR | c.3079C= (p.Arg1027=) c.3043C= (p.Arg1015=) c.3154C= (p.Arg1052=) c.3118C= (p.Arg1040=) c.3076C= (p.Arg1026=) c.3040C= (p.Arg1014=) | |
19 | g.7125462G>T | CA505400268 | INSR | c.3079C>A (p.Arg1027=) c.3043C>A (p.Arg1015=) c.3154C>A (p.Arg1052=) c.3118C>A (p.Arg1040=) c.3076C>A (p.Arg1026=) c.3040C>A (p.Arg1014=) | |
19 | g.7125463_7125465del | CA2695228020 | INSR | c.3077_3079del (p.Leu1026del) c.3041_3043del (p.Leu1014del) c.3152_3154del (p.Leu1051del) c.3116_3118del (p.Leu1039del) c.3074_3076del (p.Leu1025del) c.3038_3040del (p.Leu1013del) | |
19 | g.7125463A= | CA2320767973 | INSR | c.3078T= (p.Leu1026=) c.3042T= (p.Leu1014=) c.3153T= (p.Leu1051=) c.3117T= (p.Leu1039=) c.3075T= (p.Leu1025=) c.3039T= (p.Leu1013=) | |
19 | g.7125463A>C | CA505400269 | INSR | c.3078T>G (p.Leu1026=) c.3042T>G (p.Leu1014=) c.3153T>G (p.Leu1051=) c.3117T>G (p.Leu1039=) c.3075T>G (p.Leu1025=) c.3039T>G (p.Leu1013=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7125463A>G | CA505400270 | INSR | c.3078T>C (p.Leu1026=) c.3042T>C (p.Leu1014=) c.3153T>C (p.Leu1051=) c.3117T>C (p.Leu1039=) c.3075T>C (p.Leu1025=) c.3039T>C (p.Leu1013=) | |
19 | g.7125463A>T | CA505400271 | INSR | c.3078T>A (p.Leu1026=) c.3042T>A (p.Leu1014=) c.3153T>A (p.Leu1051=) c.3117T>A (p.Leu1039=) c.3075T>A (p.Leu1025=) c.3039T>A (p.Leu1013=) | |
19 | g.7125464A>C | CA403671353 | INSR | c.3077T>G (p.Leu1026Arg) c.3041T>G (p.Leu1014Arg) c.3152T>G (p.Leu1051Arg) c.3116T>G (p.Leu1039Arg) c.3074T>G (p.Leu1025Arg) c.3038T>G (p.Leu1013Arg) | |
19 | g.7125464A>G | CA403671354 | INSR | c.3077T>C (p.Leu1026Pro) c.3041T>C (p.Leu1014Pro) c.3152T>C (p.Leu1051Pro) c.3116T>C (p.Leu1039Pro) c.3074T>C (p.Leu1025Pro) c.3038T>C (p.Leu1013Pro) | |
19 | g.7125464A>T | CA403671355 | INSR | c.3077T>A (p.Leu1026His) c.3041T>A (p.Leu1014His) c.3152T>A (p.Leu1051His) c.3116T>A (p.Leu1039His) c.3074T>A (p.Leu1025His) c.3038T>A (p.Leu1013His) | |
19 | g.7125465G>A | CA403671356 | INSR | c.3076C>T (p.Leu1026Phe) c.3040C>T (p.Leu1014Phe) c.3151C>T (p.Leu1051Phe) c.3115C>T (p.Leu1039Phe) c.3073C>T (p.Leu1025Phe) c.3037C>T (p.Leu1013Phe) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7125465G>C | CA403671357 | INSR | c.3076C>G (p.Leu1026Val) c.3040C>G (p.Leu1014Val) c.3151C>G (p.Leu1051Val) c.3115C>G (p.Leu1039Val) c.3073C>G (p.Leu1025Val) c.3037C>G (p.Leu1013Val) | |
19 | g.7125465G= | CA2320767974 | INSR | c.3076C= (p.Leu1026=) c.3040C= (p.Leu1014=) c.3151C= (p.Leu1051=) c.3115C= (p.Leu1039=) c.3073C= (p.Leu1025=) c.3037C= (p.Leu1013=) | |
19 | g.7125465G>T | CA403671358 | INSR | c.3076C>A (p.Leu1026Ile) c.3040C>A (p.Leu1014Ile) c.3151C>A (p.Leu1051Ile) c.3115C>A (p.Leu1039Ile) c.3073C>A (p.Leu1025Ile) c.3037C>A (p.Leu1013Ile) | |
19 | g.7125466G>A | CA304873439 | INSR | c.3075C>T (p.Leu1025=) c.3039C>T (p.Leu1013=) c.3150C>T (p.Leu1050=) c.3114C>T (p.Leu1038=) c.3072C>T (p.Leu1024=) c.3036C>T (p.Leu1012=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.7125466G>C | CA505400272 | INSR | c.3075C>G (p.Leu1025=) c.3039C>G (p.Leu1013=) c.3150C>G (p.Leu1050=) c.3114C>G (p.Leu1038=) c.3072C>G (p.Leu1024=) c.3036C>G (p.Leu1012=) | |
19 | g.7125466G= | CA2320767975 | INSR | c.3075C= (p.Leu1025=) c.3039C= (p.Leu1013=) c.3150C= (p.Leu1050=) c.3114C= (p.Leu1038=) c.3072C= (p.Leu1024=) c.3036C= (p.Leu1012=) | |
19 | g.7125466G>T | CA505400273 | INSR | c.3075C>A (p.Leu1025=) c.3039C>A (p.Leu1013=) c.3150C>A (p.Leu1050=) c.3114C>A (p.Leu1038=) c.3072C>A (p.Leu1024=) c.3036C>A (p.Leu1012=) | |
19 | g.7125467A= | CA2320767976 | INSR | c.3074T= (p.Leu1025=) c.3038T= (p.Leu1013=) c.3149T= (p.Leu1050=) c.3113T= (p.Leu1038=) c.3071T= (p.Leu1024=) c.3035T= (p.Leu1012=) | |
19 | g.7125467A>C | CA403671361 | INSR | c.3074T>G (p.Leu1025Arg) c.3038T>G (p.Leu1013Arg) c.3149T>G (p.Leu1050Arg) c.3113T>G (p.Leu1038Arg) c.3071T>G (p.Leu1024Arg) c.3035T>G (p.Leu1012Arg) | |
19 | g.7125467A>G | CA403671360 | INSR | c.3074T>C (p.Leu1025Pro) c.3038T>C (p.Leu1013Pro) c.3149T>C (p.Leu1050Pro) c.3113T>C (p.Leu1038Pro) c.3071T>C (p.Leu1024Pro) c.3035T>C (p.Leu1012Pro) | |
19 | g.7125467A>T | CA403671359 | INSR | c.3074T>A (p.Leu1025His) c.3038T>A (p.Leu1013His) c.3149T>A (p.Leu1050His) c.3113T>A (p.Leu1038His) c.3071T>A (p.Leu1024His) c.3035T>A (p.Leu1012His) | dbSNP |
19 | g.7125468G>A | CA403671362 | INSR | c.3073C>T (p.Leu1025Phe) c.3037C>T (p.Leu1013Phe) c.3148C>T (p.Leu1050Phe) c.3112C>T (p.Leu1038Phe) c.3070C>T (p.Leu1024Phe) c.3034C>T (p.Leu1012Phe) | |
19 | g.7125468G>C | CA403671363 | INSR | c.3073C>G (p.Leu1025Val) c.3037C>G (p.Leu1013Val) c.3148C>G (p.Leu1050Val) c.3112C>G (p.Leu1038Val) c.3070C>G (p.Leu1024Val) c.3034C>G (p.Leu1012Val) | gnomAD v4 |
19 | g.7125468G>T | CA403671364 | INSR | c.3073C>A (p.Leu1025Ile) c.3037C>A (p.Leu1013Ile) c.3148C>A (p.Leu1050Ile) c.3112C>A (p.Leu1038Ile) c.3070C>A (p.Leu1024Ile) c.3034C>A (p.Leu1012Ile) | |
19 | g.7125469G>A | CA505400274 | INSR | c.3072C>T (p.Thr1024=) c.3036C>T (p.Thr1012=) c.3147C>T (p.Thr1049=) c.3111C>T (p.Thr1037=) c.3069C>T (p.Thr1023=) c.3033C>T (p.Thr1011=) | COSMIC COSMIC |
19 | g.7125469G>C | CA505400275 | INSR | c.3072C>G (p.Thr1024=) c.3036C>G (p.Thr1012=) c.3147C>G (p.Thr1049=) c.3111C>G (p.Thr1037=) c.3069C>G (p.Thr1023=) c.3033C>G (p.Thr1011=) | |
19 | g.7125469G= | CA2320767977 | INSR | c.3072C= (p.Thr1024=) c.3036C= (p.Thr1012=) c.3147C= (p.Thr1049=) c.3111C= (p.Thr1037=) c.3069C= (p.Thr1023=) c.3033C= (p.Thr1011=) | |
19 | g.7125469G>T | CA9135365 | INSR | c.3072C>A (p.Thr1024=) c.3036C>A (p.Thr1012=) c.3147C>A (p.Thr1049=) c.3111C>A (p.Thr1037=) c.3069C>A (p.Thr1023=) c.3033C>A (p.Thr1011=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7125469_7125470insTCA | CA9135364 | INSR | c.3071_3072insTGA (p.Thr1024_Leu1025insAsp) c.3035_3036insTGA (p.Thr1012_Leu1013insAsp) c.3146_3147insTGA (p.Thr1049_Leu1050insAsp) c.3110_3111insTGA (p.Thr1037_Leu1038insAsp) c.3068_3069insTGA (p.Thr1023_Leu1024insAsp) c.3032_3033insTGA (p.Thr1011_Leu1012insAsp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7125470G>A | CA9135366 | INSR | c.3071C>T (p.Thr1024Ile) c.3035C>T (p.Thr1012Ile) c.3146C>T (p.Thr1049Ile) c.3110C>T (p.Thr1037Ile) c.3068C>T (p.Thr1023Ile) c.3032C>T (p.Thr1011Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7125470G>C | CA9135367 | INSR | c.3071C>G (p.Thr1024Ser) c.3035C>G (p.Thr1012Ser) c.3146C>G (p.Thr1049Ser) c.3110C>G (p.Thr1037Ser) c.3068C>G (p.Thr1023Ser) c.3032C>G (p.Thr1011Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7125470G= | CA2320767978 | INSR | c.3071C= (p.Thr1024=) c.3035C= (p.Thr1012=) c.3146C= (p.Thr1049=) c.3110C= (p.Thr1037=) c.3068C= (p.Thr1023=) c.3032C= (p.Thr1011=) | |
19 | g.7125470G>T | CA403671365 | INSR | c.3071C>A (p.Thr1024Asn) c.3035C>A (p.Thr1012Asn) c.3146C>A (p.Thr1049Asn) c.3110C>A (p.Thr1037Asn) c.3068C>A (p.Thr1023Asn) c.3032C>A (p.Thr1011Asn) | |
19 | g.7125471T>A | CA403671366 | INSR | c.3070A>T (p.Thr1024Ser) c.3034A>T (p.Thr1012Ser) c.3145A>T (p.Thr1049Ser) c.3109A>T (p.Thr1037Ser) c.3067A>T (p.Thr1023Ser) c.3031A>T (p.Thr1011Ser) | |
19 | g.7125471T>C | CA403671367 | INSR | c.3070A>G (p.Thr1024Ala) c.3034A>G (p.Thr1012Ala) c.3145A>G (p.Thr1049Ala) c.3109A>G (p.Thr1037Ala) c.3067A>G (p.Thr1023Ala) c.3031A>G (p.Thr1011Ala) | gnomAD v4 |
19 | g.7125471T>G | CA403671368 | INSR | c.3070A>C (p.Thr1024Pro) c.3034A>C (p.Thr1012Pro) c.3145A>C (p.Thr1049Pro) c.3109A>C (p.Thr1037Pro) c.3067A>C (p.Thr1023Pro) c.3031A>C (p.Thr1011Pro) | |
19 | g.7125472G>A | CA505400276 | INSR | c.3069C>T (p.Ile1023=) c.3033C>T (p.Ile1011=) c.3144C>T (p.Ile1048=) c.3108C>T (p.Ile1036=) c.3066C>T (p.Ile1022=) c.3030C>T (p.Ile1010=) | |
19 | g.7125472G>C | CA403671369 | INSR | c.3069C>G (p.Ile1023Met) c.3033C>G (p.Ile1011Met) c.3144C>G (p.Ile1048Met) c.3108C>G (p.Ile1036Met) c.3066C>G (p.Ile1022Met) c.3030C>G (p.Ile1010Met) | |
19 | g.7125472G>T | CA505400277 | INSR | c.3069C>A (p.Ile1023=) c.3033C>A (p.Ile1011=) c.3144C>A (p.Ile1048=) c.3108C>A (p.Ile1036=) c.3066C>A (p.Ile1022=) c.3030C>A (p.Ile1010=) | |
19 | g.7125473A>C | CA403671370 | INSR | c.3068T>G (p.Ile1023Ser) c.3032T>G (p.Ile1011Ser) c.3143T>G (p.Ile1048Ser) c.3107T>G (p.Ile1036Ser) c.3065T>G (p.Ile1022Ser) c.3029T>G (p.Ile1010Ser) | |
19 | g.7125473A>G | CA403671372 | INSR | c.3068T>C (p.Ile1023Thr) c.3032T>C (p.Ile1011Thr) c.3143T>C (p.Ile1048Thr) c.3107T>C (p.Ile1036Thr) c.3065T>C (p.Ile1022Thr) c.3029T>C (p.Ile1010Thr) | |
19 | g.7125473A>T | CA403671371 | INSR | c.3068T>A (p.Ile1023Asn) c.3032T>A (p.Ile1011Asn) c.3143T>A (p.Ile1048Asn) c.3107T>A (p.Ile1036Asn) c.3065T>A (p.Ile1022Asn) c.3029T>A (p.Ile1010Asn) | |
19 | g.7125474T>A | CA403671373 | INSR | c.3067A>T (p.Ile1023Phe) c.3031A>T (p.Ile1011Phe) c.3142A>T (p.Ile1048Phe) c.3106A>T (p.Ile1036Phe) c.3064A>T (p.Ile1022Phe) c.3028A>T (p.Ile1010Phe) | |
19 | g.7125474T>C | CA403671375 | INSR | c.3067A>G (p.Ile1023Val) c.3031A>G (p.Ile1011Val) c.3142A>G (p.Ile1048Val) c.3106A>G (p.Ile1036Val) c.3064A>G (p.Ile1022Val) c.3028A>G (p.Ile1010Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
19 | g.7125474T>G | CA403671374 | INSR | c.3067A>C (p.Ile1023Leu) c.3031A>C (p.Ile1011Leu) c.3142A>C (p.Ile1048Leu) c.3106A>C (p.Ile1036Leu) c.3064A>C (p.Ile1022Leu) c.3028A>C (p.Ile1010Leu) | |
19 | g.7125474T= | CA2320767979 | INSR | c.3067A= (p.Ile1023=) c.3031A= (p.Ile1011=) c.3142A= (p.Ile1048=) c.3106A= (p.Ile1036=) c.3064A= (p.Ile1022=) c.3028A= (p.Ile1010=) | |
19 | g.7125475C>A | CA403671376 | INSR | c.3066G>T (p.Lys1022Asn) c.3030G>T (p.Lys1010Asn) c.3141G>T (p.Lys1047Asn) c.3105G>T (p.Lys1035Asn) c.3063G>T (p.Lys1021Asn) c.3027G>T (p.Lys1009Asn) | |
19 | g.7125475C>G | CA403671377 | INSR | c.3066G>C (p.Lys1022Asn) c.3030G>C (p.Lys1010Asn) c.3141G>C (p.Lys1047Asn) c.3105G>C (p.Lys1035Asn) c.3063G>C (p.Lys1021Asn) c.3027G>C (p.Lys1009Asn) | |
19 | g.7125475C>T | CA505400278 | INSR | c.3066G>A (p.Lys1022=) c.3030G>A (p.Lys1010=) c.3141G>A (p.Lys1047=) c.3105G>A (p.Lys1035=) c.3063G>A (p.Lys1021=) c.3027G>A (p.Lys1009=) | |
19 | g.7125476T>A | CA403671378 | INSR | c.3065A>T (p.Lys1022Met) c.3029A>T (p.Lys1010Met) c.3140A>T (p.Lys1047Met) c.3104A>T (p.Lys1035Met) c.3062A>T (p.Lys1021Met) c.3026A>T (p.Lys1009Met) | |
19 | g.7125476T>C | CA403671379 | INSR | c.3065A>G (p.Lys1022Arg) c.3029A>G (p.Lys1010Arg) c.3140A>G (p.Lys1047Arg) c.3104A>G (p.Lys1035Arg) c.3062A>G (p.Lys1021Arg) c.3026A>G (p.Lys1009Arg) | |
19 | g.7125476T>G | CA403671380 | INSR | c.3065A>C (p.Lys1022Thr) c.3029A>C (p.Lys1010Thr) c.3140A>C (p.Lys1047Thr) c.3104A>C (p.Lys1035Thr) c.3062A>C (p.Lys1021Thr) c.3026A>C (p.Lys1009Thr) | |
19 | g.7125477T>A | CA403671381 | INSR | c.3064A>T (p.Lys1022Ter) c.3028A>T (p.Lys1010Ter) c.3139A>T (p.Lys1047Ter) c.3103A>T (p.Lys1035Ter) c.3061A>T (p.Lys1021Ter) c.3025A>T (p.Lys1009Ter) | |
19 | g.7125477T>C | CA403671382 | INSR | c.3064A>G (p.Lys1022Glu) c.3028A>G (p.Lys1010Glu) c.3139A>G (p.Lys1047Glu) c.3103A>G (p.Lys1035Glu) c.3061A>G (p.Lys1021Glu) c.3025A>G (p.Lys1009Glu) | |
19 | g.7125477T>G | CA403671383 | INSR | c.3064A>C (p.Lys1022Gln) c.3028A>C (p.Lys1010Gln) c.3139A>C (p.Lys1047Gln) c.3103A>C (p.Lys1035Gln) c.3061A>C (p.Lys1021Gln) c.3025A>C (p.Lys1009Gln) | |
19 | g.7125478C>A | CA403671385 | INSR | c.3063G>T (p.Glu1021Asp) c.3027G>T (p.Glu1009Asp) c.3138G>T (p.Glu1046Asp) c.3102G>T (p.Glu1034Asp) c.3060G>T (p.Glu1020Asp) c.3024G>T (p.Glu1008Asp) | |
19 | g.7125478C>G | CA403671384 | INSR | c.3063G>C (p.Glu1021Asp) c.3027G>C (p.Glu1009Asp) c.3138G>C (p.Glu1046Asp) c.3102G>C (p.Glu1034Asp) c.3060G>C (p.Glu1020Asp) c.3024G>C (p.Glu1008Asp) | |
19 | g.7125478C>T | CA505400279 | INSR | c.3063G>A (p.Glu1021=) c.3027G>A (p.Glu1009=) c.3138G>A (p.Glu1046=) c.3102G>A (p.Glu1034=) c.3060G>A (p.Glu1020=) c.3024G>A (p.Glu1008=) | |
19 | g.7125479T>A | CA403671386 | INSR | c.3062A>T (p.Glu1021Val) c.3026A>T (p.Glu1009Val) c.3137A>T (p.Glu1046Val) c.3101A>T (p.Glu1034Val) c.3059A>T (p.Glu1020Val) c.3023A>T (p.Glu1008Val) | |
19 | g.7125479T>C | CA403671387 | INSR | c.3062A>G (p.Glu1021Gly) c.3026A>G (p.Glu1009Gly) c.3137A>G (p.Glu1046Gly) c.3101A>G (p.Glu1034Gly) c.3059A>G (p.Glu1020Gly) c.3023A>G (p.Glu1008Gly) | |
19 | g.7125479T>G | CA403671388 | INSR | c.3062A>C (p.Glu1021Ala) c.3026A>C (p.Glu1009Ala) c.3137A>C (p.Glu1046Ala) c.3101A>C (p.Glu1034Ala) c.3059A>C (p.Glu1020Ala) c.3023A>C (p.Glu1008Ala) | |
19 | g.7125480C>A | CA403671389 | INSR | c.3061G>T (p.Glu1021Ter) c.3025G>T (p.Glu1009Ter) c.3136G>T (p.Glu1046Ter) c.3100G>T (p.Glu1034Ter) c.3058G>T (p.Glu1020Ter) c.3022G>T (p.Glu1008Ter) | |
19 | g.7125480C= | CA2320767980 | INSR | c.3061G= (p.Glu1021=) c.3025G= (p.Glu1009=) c.3136G= (p.Glu1046=) c.3100G= (p.Glu1034=) c.3058G= (p.Glu1020=) c.3022G= (p.Glu1008=) | |
19 | g.7125480C>G | CA9135368 | INSR | c.3061G>C (p.Glu1021Gln) c.3025G>C (p.Glu1009Gln) c.3136G>C (p.Glu1046Gln) c.3100G>C (p.Glu1034Gln) c.3058G>C (p.Glu1020Gln) c.3022G>C (p.Glu1008Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7125480C>T | CA403671390 | INSR | c.3061G>A (p.Glu1021Lys) c.3025G>A (p.Glu1009Lys) c.3136G>A (p.Glu1046Lys) c.3100G>A (p.Glu1034Lys) c.3058G>A (p.Glu1020Lys) c.3022G>A (p.Glu1008Lys) | |
19 | g.7125481T>A | CA505400280 | INSR | c.3060A>T (p.Arg1020=) c.3024A>T (p.Arg1008=) c.3135A>T (p.Arg1045=) c.3099A>T (p.Arg1033=) c.3057A>T (p.Arg1019=) c.3021A>T (p.Arg1007=) | |
19 | g.7125481T>C | CA505400281 | INSR | c.3060A>G (p.Arg1020=) c.3024A>G (p.Arg1008=) c.3135A>G (p.Arg1045=) c.3099A>G (p.Arg1033=) c.3057A>G (p.Arg1019=) c.3021A>G (p.Arg1007=) | dbSNP gnomAD v4 |
19 | g.7125481T>G | CA505400282 | INSR | c.3060A>C (p.Arg1020=) c.3024A>C (p.Arg1008=) c.3135A>C (p.Arg1045=) c.3099A>C (p.Arg1033=) c.3057A>C (p.Arg1019=) c.3021A>C (p.Arg1007=) | |
19 | g.7125481T= | CA2320767981 | INSR | c.3060A= (p.Arg1020=) c.3024A= (p.Arg1008=) c.3135A= (p.Arg1045=) c.3099A= (p.Arg1033=) c.3057A= (p.Arg1019=) c.3021A= (p.Arg1007=) | |
19 | g.7125481dup | CA631723596 | INSR | c.3060dup (p.Glu1021ArgfsTer19) c.3024dup (p.Glu1009ArgfsTer19) c.3135dup (p.Glu1046ArgfsTer19) c.3099dup (p.Glu1034ArgfsTer19) c.3057dup (p.Glu1020ArgfsTer19) c.3021dup (p.Glu1008ArgfsTer19) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7125482C>A | CA403671392 | INSR | c.3059G>T (p.Arg1020Leu) c.3023G>T (p.Arg1008Leu) c.3134G>T (p.Arg1045Leu) c.3098G>T (p.Arg1033Leu) c.3056G>T (p.Arg1019Leu) c.3020G>T (p.Arg1007Leu) | |
19 | g.7125482C= | CA2320767982 | INSR | c.3059G= (p.Arg1020=) c.3023G= (p.Arg1008=) c.3134G= (p.Arg1045=) c.3098G= (p.Arg1033=) c.3056G= (p.Arg1019=) c.3020G= (p.Arg1007=) | |
19 | g.7125482C>G | CA403671391 | INSR | c.3059G>C (p.Arg1020Pro) c.3023G>C (p.Arg1008Pro) c.3134G>C (p.Arg1045Pro) c.3098G>C (p.Arg1033Pro) c.3056G>C (p.Arg1019Pro) c.3020G>C (p.Arg1007Pro) | |
19 | g.7125482C>T | CA124245 | INSR | c.3059G>A (p.Arg1020Gln) c.3023G>A (p.Arg1008Gln) c.3134G>A (p.Arg1045Gln) c.3098G>A (p.Arg1033Gln) c.3056G>A (p.Arg1019Gln) c.3020G>A (p.Arg1007Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.7125483G>A | CA403671393 | INSR | c.3058C>T (p.Arg1020Ter) c.3022C>T (p.Arg1008Ter) c.3133C>T (p.Arg1045Ter) c.3097C>T (p.Arg1033Ter) c.3055C>T (p.Arg1019Ter) c.3019C>T (p.Arg1007Ter) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7125483G>C | CA403671394 | INSR | c.3058C>G (p.Arg1020Gly) c.3022C>G (p.Arg1008Gly) c.3133C>G (p.Arg1045Gly) c.3097C>G (p.Arg1033Gly) c.3055C>G (p.Arg1019Gly) c.3019C>G (p.Arg1007Gly) | |
19 | g.7125483G= | CA2320767983 | INSR | c.3058C= (p.Arg1020=) c.3022C= (p.Arg1008=) c.3133C= (p.Arg1045=) c.3097C= (p.Arg1033=) c.3055C= (p.Arg1019=) c.3019C= (p.Arg1007=) | |
19 | g.7125483G>T | CA505400283 | INSR | c.3058C>A (p.Arg1020=) c.3022C>A (p.Arg1008=) c.3133C>A (p.Arg1045=) c.3097C>A (p.Arg1033=) c.3055C>A (p.Arg1019=) c.3019C>A (p.Arg1007=) | |
19 | g.7125484A>C | CA505400284 | INSR | c.3057T>G (p.Ser1019=) c.3021T>G (p.Ser1007=) c.3132T>G (p.Ser1044=) c.3096T>G (p.Ser1032=) c.3054T>G (p.Ser1018=) c.3018T>G (p.Ser1006=) | |
19 | g.7125484A>G | CA505400285 | INSR | c.3057T>C (p.Ser1019=) c.3021T>C (p.Ser1007=) c.3132T>C (p.Ser1044=) c.3096T>C (p.Ser1032=) c.3054T>C (p.Ser1018=) c.3018T>C (p.Ser1006=) | |
19 | g.7125484A>T | CA505400286 | INSR | c.3057T>A (p.Ser1019=) c.3021T>A (p.Ser1007=) c.3132T>A (p.Ser1044=) c.3096T>A (p.Ser1032=) c.3054T>A (p.Ser1018=) c.3018T>A (p.Ser1006=) | |
19 | g.7125485G>A | CA403671395 | INSR | c.3056C>T (p.Ser1019Phe) c.3020C>T (p.Ser1007Phe) c.3131C>T (p.Ser1044Phe) c.3095C>T (p.Ser1032Phe) c.3053C>T (p.Ser1018Phe) c.3017C>T (p.Ser1006Phe) | |
19 | g.7125485G>C | CA403671396 | INSR | c.3056C>G (p.Ser1019Cys) c.3020C>G (p.Ser1007Cys) c.3131C>G (p.Ser1044Cys) c.3095C>G (p.Ser1032Cys) c.3053C>G (p.Ser1018Cys) c.3017C>G (p.Ser1006Cys) | |
19 | g.7125485G>T | CA403671397 | INSR | c.3056C>A (p.Ser1019Tyr) c.3020C>A (p.Ser1007Tyr) c.3131C>A (p.Ser1044Tyr) c.3095C>A (p.Ser1032Tyr) c.3053C>A (p.Ser1018Tyr) c.3017C>A (p.Ser1006Tyr) | |
19 | g.7125486A= | CA2320767984 | INSR | c.3055T= (p.Ser1019=) c.3019T= (p.Ser1007=) c.3130T= (p.Ser1044=) c.3094T= (p.Ser1032=) c.3052T= (p.Ser1018=) c.3016T= (p.Ser1006=) | |
19 | g.7125486A>C | CA403671398 | INSR | c.3055T>G (p.Ser1019Ala) c.3019T>G (p.Ser1007Ala) c.3130T>G (p.Ser1044Ala) c.3094T>G (p.Ser1032Ala) c.3052T>G (p.Ser1018Ala) c.3016T>G (p.Ser1006Ala) | |
19 | g.7125486A>G | CA304873491 | INSR | c.3055T>C (p.Ser1019Pro) c.3019T>C (p.Ser1007Pro) c.3130T>C (p.Ser1044Pro) c.3094T>C (p.Ser1032Pro) c.3052T>C (p.Ser1018Pro) c.3016T>C (p.Ser1006Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7125486A>T | CA304873495 | INSR | c.3055T>A (p.Ser1019Thr) c.3019T>A (p.Ser1007Thr) c.3130T>A (p.Ser1044Thr) c.3094T>A (p.Ser1032Thr) c.3052T>A (p.Ser1018Thr) c.3016T>A (p.Ser1006Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7125487C>A | CA505400287 | INSR | c.3054G>T (p.Val1018=) c.3018G>T (p.Val1006=) c.3129G>T (p.Val1043=) c.3093G>T (p.Val1031=) c.3051G>T (p.Val1017=) c.3015G>T (p.Val1005=) | |
19 | g.7125487C= | CA2320767985 | INSR | c.3054G= (p.Val1018=) c.3018G= (p.Val1006=) c.3129G= (p.Val1043=) c.3093G= (p.Val1031=) c.3051G= (p.Val1017=) c.3015G= (p.Val1005=) | |
19 | g.7125487C>G | CA505400288 | INSR | c.3054G>C (p.Val1018=) c.3018G>C (p.Val1006=) c.3129G>C (p.Val1043=) c.3093G>C (p.Val1031=) c.3051G>C (p.Val1017=) c.3015G>C (p.Val1005=) | |
19 | g.7125487C>T | CA10643423 | INSR | c.3054G>A (p.Val1018=) c.3018G>A (p.Val1006=) c.3129G>A (p.Val1043=) c.3093G>A (p.Val1031=) c.3051G>A (p.Val1017=) c.3015G>A (p.Val1005=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.7125488A>C | CA403671399 | INSR | c.3053T>G (p.Val1018Gly) c.3017T>G (p.Val1006Gly) c.3128T>G (p.Val1043Gly) c.3092T>G (p.Val1031Gly) c.3050T>G (p.Val1017Gly) c.3014T>G (p.Val1005Gly) | |
19 | g.7125488A>G | CA403671400 | INSR | c.3053T>C (p.Val1018Ala) c.3017T>C (p.Val1006Ala) c.3128T>C (p.Val1043Ala) c.3092T>C (p.Val1031Ala) c.3050T>C (p.Val1017Ala) c.3014T>C (p.Val1005Ala) | |
19 | g.7125488A>T | CA403671401 | INSR | c.3053T>A (p.Val1018Glu) c.3017T>A (p.Val1006Glu) c.3128T>A (p.Val1043Glu) c.3092T>A (p.Val1031Glu) c.3050T>A (p.Val1017Glu) c.3014T>A (p.Val1005Glu) | |
19 | g.7125489C>A | CA403671402 | INSR | c.3052G>T (p.Val1018Leu) c.3016G>T (p.Val1006Leu) c.3127G>T (p.Val1043Leu) c.3091G>T (p.Val1031Leu) c.3049G>T (p.Val1017Leu) c.3013G>T (p.Val1005Leu) | ClinVar dbSNP |
19 | g.7125489C>G | CA403671404 | INSR | c.3052G>C (p.Val1018Leu) c.3016G>C (p.Val1006Leu) c.3127G>C (p.Val1043Leu) c.3091G>C (p.Val1031Leu) c.3049G>C (p.Val1017Leu) c.3013G>C (p.Val1005Leu) | |
19 | g.7125489C>T | CA403671403 | INSR | c.3052G>A (p.Val1018Met) c.3016G>A (p.Val1006Met) c.3127G>A (p.Val1043Met) c.3091G>A (p.Val1031Met) c.3049G>A (p.Val1017Met) c.3013G>A (p.Val1005Met) | gnomAD v4 |
19 | g.7125490C>A | CA403671405 | INSR | c.3051G>T (p.Glu1017Asp) c.3015G>T (p.Glu1005Asp) c.3126G>T (p.Glu1042Asp) c.3090G>T (p.Glu1030Asp) c.3048G>T (p.Glu1016Asp) c.3012G>T (p.Glu1004Asp) | |
19 | g.7125490C= | CA2320767986 | INSR | c.3051G= (p.Glu1017=) c.3015G= (p.Glu1005=) c.3126G= (p.Glu1042=) c.3090G= (p.Glu1030=) c.3048G= (p.Glu1016=) c.3012G= (p.Glu1004=) | |
19 | g.7125490C>G | CA403671406 | INSR | c.3051G>C (p.Glu1017Asp) c.3015G>C (p.Glu1005Asp) c.3126G>C (p.Glu1042Asp) c.3090G>C (p.Glu1030Asp) c.3048G>C (p.Glu1016Asp) c.3012G>C (p.Glu1004Asp) | gnomAD v4 |
19 | g.7125490C>T | CA505400289 | INSR | c.3051G>A (p.Glu1017=) c.3015G>A (p.Glu1005=) c.3126G>A (p.Glu1042=) c.3090G>A (p.Glu1030=) c.3048G>A (p.Glu1016=) c.3012G>A (p.Glu1004=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7125491T>A | CA403671407 | INSR | c.3050A>T (p.Glu1017Val) c.3014A>T (p.Glu1005Val) c.3125A>T (p.Glu1042Val) c.3089A>T (p.Glu1030Val) c.3047A>T (p.Glu1016Val) c.3011A>T (p.Glu1004Val) | |
19 | g.7125491T>C | CA403671408 | INSR | c.3050A>G (p.Glu1017Gly) c.3014A>G (p.Glu1005Gly) c.3125A>G (p.Glu1042Gly) c.3089A>G (p.Glu1030Gly) c.3047A>G (p.Glu1016Gly) c.3011A>G (p.Glu1004Gly) | |
19 | g.7125491T>G | CA403671409 | INSR | c.3050A>C (p.Glu1017Ala) c.3014A>C (p.Glu1005Ala) c.3125A>C (p.Glu1042Ala) c.3089A>C (p.Glu1030Ala) c.3047A>C (p.Glu1016Ala) c.3011A>C (p.Glu1004Ala) | |
19 | g.7125492C>A | CA403671410 | INSR | c.3049G>T (p.Glu1017Ter) c.3013G>T (p.Glu1005Ter) c.3124G>T (p.Glu1042Ter) c.3088G>T (p.Glu1030Ter) c.3046G>T (p.Glu1016Ter) c.3010G>T (p.Glu1004Ter) | |
19 | g.7125492C>G | CA403671411 | INSR | c.3049G>C (p.Glu1017Gln) c.3013G>C (p.Glu1005Gln) c.3124G>C (p.Glu1042Gln) c.3088G>C (p.Glu1030Gln) c.3046G>C (p.Glu1016Gln) c.3010G>C (p.Glu1004Gln) | |
19 | g.7125492C>T | CA403671412 | INSR | c.3049G>A (p.Glu1017Lys) c.3013G>A (p.Glu1005Lys) c.3124G>A (p.Glu1042Lys) c.3088G>A (p.Glu1030Lys) c.3046G>A (p.Glu1016Lys) c.3010G>A (p.Glu1004Lys) | |
19 | g.7125493C>A | CA403671413 | INSR | c.3048G>T (p.Trp1016Cys) c.3012G>T (p.Trp1004Cys) c.3123G>T (p.Trp1041Cys) c.3087G>T (p.Trp1029Cys) c.3045G>T (p.Trp1015Cys) c.3009G>T (p.Trp1003Cys) | |
19 | g.7125493C>G | CA403671414 | INSR | c.3048G>C (p.Trp1016Cys) c.3012G>C (p.Trp1004Cys) c.3123G>C (p.Trp1041Cys) c.3087G>C (p.Trp1029Cys) c.3045G>C (p.Trp1015Cys) c.3009G>C (p.Trp1003Cys) | |
19 | g.7125493C>T | CA403671415 | INSR | c.3048G>A (p.Trp1016Ter) c.3012G>A (p.Trp1004Ter) c.3123G>A (p.Trp1041Ter) c.3087G>A (p.Trp1029Ter) c.3045G>A (p.Trp1015Ter) c.3009G>A (p.Trp1003Ter) | |
19 | g.7125494C>A | CA403671418 | INSR | c.3047G>T (p.Trp1016Leu) c.3011G>T (p.Trp1004Leu) c.3122G>T (p.Trp1041Leu) c.3086G>T (p.Trp1029Leu) c.3044G>T (p.Trp1015Leu) c.3008G>T (p.Trp1003Leu) | |
19 | g.7125494C>G | CA403671417 | INSR | c.3047G>C (p.Trp1016Ser) c.3011G>C (p.Trp1004Ser) c.3122G>C (p.Trp1041Ser) c.3086G>C (p.Trp1029Ser) c.3044G>C (p.Trp1015Ser) c.3008G>C (p.Trp1003Ser) | |
19 | g.7125494C>T | CA403671416 | INSR | c.3047G>A (p.Trp1016Ter) c.3011G>A (p.Trp1004Ter) c.3122G>A (p.Trp1041Ter) c.3086G>A (p.Trp1029Ter) c.3044G>A (p.Trp1015Ter) c.3008G>A (p.Trp1003Ter) | |
19 | g.7125495A>C | CA403671419 | INSR | c.3046T>G (p.Trp1016Gly) c.3010T>G (p.Trp1004Gly) c.3121T>G (p.Trp1041Gly) c.3085T>G (p.Trp1029Gly) c.3043T>G (p.Trp1015Gly) c.3007T>G (p.Trp1003Gly) | |
19 | g.7125495A>G | CA403671420 | INSR | c.3046T>C (p.Trp1016Arg) c.3010T>C (p.Trp1004Arg) c.3121T>C (p.Trp1041Arg) c.3085T>C (p.Trp1029Arg) c.3043T>C (p.Trp1015Arg) c.3007T>C (p.Trp1003Arg) | |
19 | g.7125495A>T | CA403671421 | INSR | c.3046T>A (p.Trp1016Arg) c.3010T>A (p.Trp1004Arg) c.3121T>A (p.Trp1041Arg) c.3085T>A (p.Trp1029Arg) c.3043T>A (p.Trp1015Arg) c.3007T>A (p.Trp1003Arg) | |
19 | g.7125496C>A | CA403671422 | INSR | c.3045G>T (p.Glu1015Asp) c.3009G>T (p.Glu1003Asp) c.3120G>T (p.Glu1040Asp) c.3084G>T (p.Glu1028Asp) c.3042G>T (p.Glu1014Asp) c.3006G>T (p.Glu1002Asp) | |
19 | g.7125496C= | CA2320767987 | INSR | c.3045G= (p.Glu1015=) c.3009G= (p.Glu1003=) c.3120G= (p.Glu1040=) c.3084G= (p.Glu1028=) c.3042G= (p.Glu1014=) c.3006G= (p.Glu1002=) | |
19 | g.7125496C>G | CA403671423 | INSR | c.3045G>C (p.Glu1015Asp) c.3009G>C (p.Glu1003Asp) c.3120G>C (p.Glu1040Asp) c.3084G>C (p.Glu1028Asp) c.3042G>C (p.Glu1014Asp) c.3006G>C (p.Glu1002Asp) | dbSNP |
19 | g.7125496C>T | CA505400290 | INSR | c.3045G>A (p.Glu1015=) c.3009G>A (p.Glu1003=) c.3120G>A (p.Glu1040=) c.3084G>A (p.Glu1028=) c.3042G>A (p.Glu1014=) c.3006G>A (p.Glu1002=) | |
19 | g.7125497T>A | CA403671424 | INSR | c.3044A>T (p.Glu1015Val) c.3008A>T (p.Glu1003Val) c.3119A>T (p.Glu1040Val) c.3083A>T (p.Glu1028Val) c.3041A>T (p.Glu1014Val) c.3005A>T (p.Glu1002Val) | |
19 | g.7125497T>C | CA403671425 | INSR | c.3044A>G (p.Glu1015Gly) c.3008A>G (p.Glu1003Gly) c.3119A>G (p.Glu1040Gly) c.3083A>G (p.Glu1028Gly) c.3041A>G (p.Glu1014Gly) c.3005A>G (p.Glu1002Gly) | |
19 | g.7125497T>G | CA403671426 | INSR | c.3044A>C (p.Glu1015Ala) c.3008A>C (p.Glu1003Ala) c.3119A>C (p.Glu1040Ala) c.3083A>C (p.Glu1028Ala) c.3041A>C (p.Glu1014Ala) c.3005A>C (p.Glu1002Ala) | dbSNP |
19 | g.7125497T= | CA2320767988 | INSR | c.3044A= (p.Glu1015=) c.3008A= (p.Glu1003=) c.3119A= (p.Glu1040=) c.3083A= (p.Glu1028=) c.3041A= (p.Glu1014=) c.3005A= (p.Glu1002=) | |
19 | g.7125498C>A | CA403671427 | INSR | c.3043G>T (p.Glu1015Ter) c.3007G>T (p.Glu1003Ter) c.3118G>T (p.Glu1040Ter) c.3082G>T (p.Glu1028Ter) c.3040G>T (p.Glu1014Ter) c.3004G>T (p.Glu1002Ter) | |
19 | g.7125498C= | CA2320767989 | INSR | c.3043G= (p.Glu1015=) c.3007G= (p.Glu1003=) c.3118G= (p.Glu1040=) c.3082G= (p.Glu1028=) c.3040G= (p.Glu1014=) c.3004G= (p.Glu1002=) | |
19 | g.7125498C>G | CA403671428 | INSR | c.3043G>C (p.Glu1015Gln) c.3007G>C (p.Glu1003Gln) c.3118G>C (p.Glu1040Gln) c.3082G>C (p.Glu1028Gln) c.3040G>C (p.Glu1014Gln) c.3004G>C (p.Glu1002Gln) | |
19 | g.7125498C>T | CA9135369 | INSR | c.3043G>A (p.Glu1015Lys) c.3007G>A (p.Glu1003Lys) c.3118G>A (p.Glu1040Lys) c.3082G>A (p.Glu1028Lys) c.3040G>A (p.Glu1014Lys) c.3004G>A (p.Glu1002Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7125501_7125509del | CA2587922099 | INSR | c.3035_3043del (p.Val1012_Asp1014del) c.2999_3007del (p.Val1000_Asp1002del) c.3110_3118del (p.Val1037_Asp1039del) c.3074_3082del (p.Val1025_Asp1027del) c.3032_3040del (p.Val1011_Asp1013del) c.2996_3004del (p.Val999_Asp1001del) | gnomAD v4 |