UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7267643G>A | CA505481937 | INSR | c.354C>T (p.Tyr118=) n.329C>T c.432C>T (p.Tyr144=) | gnomAD v4 |
| 19 | g.7267643G>C | CA403159916 | INSR | c.354C>G (p.Tyr118Ter) n.329C>G c.432C>G (p.Tyr144Ter) | |
| 19 | g.7267643G>T | CA403159915 | INSR | c.354C>A (p.Tyr118Ter) n.329C>A c.432C>A (p.Tyr144Ter) | gnomAD v4 |
| 19 | g.7267643_7267647delinsGTAGT | CA2320836491 | INSR | c.350_354delinsACTAC (p.Asn117=) n.325_329delinsACTAC c.428_432delinsACTAC (p.Asn143=) | |
| 19 | g.7267644T>A | CA403159917 | INSR | c.353A>T (p.Tyr118Phe) n.328A>T c.431A>T (p.Tyr144Phe) | |
| 19 | g.7267644T>C | CA403159918 | INSR | c.353A>G (p.Tyr118Cys) n.328A>G c.431A>G (p.Tyr144Cys) | gnomAD v4 |
| 19 | g.7267644T>G | CA403159919 | INSR | c.353A>C (p.Tyr118Ser) n.328A>C c.431A>C (p.Tyr144Ser) | |
| 19 | g.7267646_7267649del | CA631709806 | INSR | c.350_353del (p.Asn117ThrfsTer19) n.325_328del c.428_431del (p.Asn143ThrfsTer19) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 19 | g.7267645A= | CA2320836492 | INSR | c.352T= (p.Tyr118=) n.327T= c.430T= (p.Tyr144=) | |
| 19 | g.7267645A>C | CA403159920 | INSR | c.352T>G (p.Tyr118Asp) n.327T>G c.430T>G (p.Tyr144Asp) | |
| 19 | g.7267645A>G | CA403159921 | INSR | c.352T>C (p.Tyr118His) n.327T>C c.430T>C (p.Tyr144His) | |
| 19 | g.7267645A>T | CA9136133 | INSR | c.352T>A (p.Tyr118Asn) n.327T>A c.430T>A (p.Tyr144Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7267646G>A | CA505481939 | INSR | c.351C>T (p.Asn117=) n.326C>T c.429C>T (p.Asn143=) | |
| 19 | g.7267646G>C | CA403159922 | INSR | c.351C>G (p.Asn117Lys) n.326C>G c.429C>G (p.Asn143Lys) | |
| 19 | g.7267646G= | CA2320836493 | INSR | c.351C= (p.Asn117=) n.326C= c.429C= (p.Asn143=) | |
| 19 | g.7267646G>T | CA403159923 | INSR | c.351C>A (p.Asn117Lys) n.326C>A c.429C>A (p.Asn143Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7267647T>A | CA403159924 | INSR | c.350A>T (p.Asn117Ile) n.325A>T c.428A>T (p.Asn143Ile) | |
| 19 | g.7267647T>C | CA403159925 | INSR | c.350A>G (p.Asn117Ser) n.325A>G c.428A>G (p.Asn143Ser) | |
| 19 | g.7267647T>G | CA403159926 | INSR | c.350A>C (p.Asn117Thr) n.325A>C c.428A>C (p.Asn143Thr) | |
| 19 | g.7267648T>A | CA403159929 | INSR | c.349A>T (p.Asn117Tyr) n.324A>T c.427A>T (p.Asn143Tyr) | |
| 19 | g.7267648T>C | CA403159928 | INSR | c.349A>G (p.Asn117Asp) n.324A>G c.427A>G (p.Asn143Asp) | |
| 19 | g.7267648T>G | CA403159927 | INSR | c.349A>C (p.Asn117His) n.324A>C c.427A>C (p.Asn143His) | |
| 19 | g.7267649A>C | CA403159930 | INSR | c.348T>G (p.Phe116Leu) n.323T>G c.426T>G (p.Phe142Leu) | |
| 19 | g.7267649A>G | CA505481941 | INSR | c.348T>C (p.Phe116=) n.323T>C c.426T>C (p.Phe142=) | |
| 19 | g.7267649A>T | CA403159931 | INSR | c.348T>A (p.Phe116Leu) n.323T>A c.426T>A (p.Phe142Leu) | |
| 19 | g.7267650A>C | CA403159932 | INSR | c.347T>G (p.Phe116Cys) n.322T>G c.425T>G (p.Phe142Cys) | |
| 19 | g.7267650A>G | CA403159933 | INSR | c.347T>C (p.Phe116Ser) n.322T>C c.425T>C (p.Phe142Ser) | |
| 19 | g.7267650A>T | CA403159934 | INSR | c.347T>A (p.Phe116Tyr) n.322T>A c.425T>A (p.Phe142Tyr) | |
| 19 | g.7267651A>C | CA403159937 | INSR | c.346T>G (p.Phe116Val) n.321T>G c.424T>G (p.Phe142Val) | |
| 19 | g.7267651A>G | CA403159936 | INSR | c.346T>C (p.Phe116Leu) n.321T>C c.424T>C (p.Phe142Leu) | |
| 19 | g.7267651A>T | CA403159935 | INSR | c.346T>A (p.Phe116Ile) n.321T>A c.424T>A (p.Phe142Ile) | |
| 19 | g.7267652G>A | CA9136134 | INSR | c.345C>T (p.Phe115=) n.320C>T c.423C>T (p.Phe141=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7267652G>C | CA403159938 | INSR | c.345C>G (p.Phe115Leu) n.320C>G c.423C>G (p.Phe141Leu) | dbSNP |
| 19 | g.7267652G= | CA2320836494 | INSR | c.345C= (p.Phe115=) n.320C= c.423C= (p.Phe141=) | |
| 19 | g.7267652G>T | CA403159939 | INSR | c.345C>A (p.Phe115Leu) n.320C>A c.423C>A (p.Phe141Leu) | |
| 19 | g.7267653A>C | CA403159940 | INSR | c.344T>G (p.Phe115Cys) n.319T>G c.422T>G (p.Phe141Cys) | |
| 19 | g.7267653A>G | CA403159941 | INSR | c.344T>C (p.Phe115Ser) n.319T>C c.422T>C (p.Phe141Ser) | gnomAD v4 |
| 19 | g.7267653A>T | CA403159942 | INSR | c.344T>A (p.Phe115Tyr) n.319T>A c.422T>A (p.Phe141Tyr) | |
| 19 | g.7267654A>C | CA403159943 | INSR | c.343T>G (p.Phe115Val) n.318T>G c.421T>G (p.Phe141Val) | |
| 19 | g.7267654A>G | CA403159945 | INSR | c.343T>C (p.Phe115Leu) n.318T>C c.421T>C (p.Phe141Leu) | |
| 19 | g.7267654A>T | CA403159944 | INSR | c.343T>A (p.Phe115Ile) n.318T>A c.421T>A (p.Phe141Ile) | |
| 19 | g.7267655C>A | CA505481945 | INSR | c.342G>T (p.Leu114=) n.317G>T c.420G>T (p.Leu140=) | |
| 19 | g.7267655C>G | CA505481946 | INSR | c.342G>C (p.Leu114=) n.317G>C c.420G>C (p.Leu140=) | |
| 19 | g.7267655C>T | CA505481947 | INSR | c.342G>A (p.Leu114=) n.317G>A c.420G>A (p.Leu140=) | |
| 19 | g.7267656A>C | CA403159946 | INSR | c.341T>G (p.Leu114Arg) n.316T>G c.419T>G (p.Leu140Arg) | |
| 19 | g.7267656A>G | CA403159947 | INSR | c.341T>C (p.Leu114Pro) n.316T>C c.419T>C (p.Leu140Pro) | |
| 19 | g.7267656A>T | CA403159948 | INSR | c.341T>A (p.Leu114Gln) n.316T>A c.419T>A (p.Leu140Gln) | gnomAD v4 |
| 19 | g.7267657G>A | CA505481951 | INSR | c.340C>T (p.Leu114=) n.315C>T c.418C>T (p.Leu140=) | |
| 19 | g.7267657G>C | CA403159949 | INSR | c.340C>G (p.Leu114Val) n.315C>G c.418C>G (p.Leu140Val) | |
| 19 | g.7267657G>T | CA403159950 | INSR | c.340C>A (p.Leu114Met) n.315C>A c.418C>A (p.Leu140Met) | |
| 19 | g.7267658T>A | CA505481952 | INSR | c.339A>T (p.Arg113=) n.314A>T c.417A>T (p.Arg139=) | |
| 19 | g.7267658T>C | CA505481953 | INSR | c.339A>G (p.Arg113=) n.314A>G c.417A>G (p.Arg139=) | |
| 19 | g.7267658T>G | CA505481954 | INSR | c.339A>C (p.Arg113=) n.314A>C c.417A>C (p.Arg139=) | |
| 19 | g.7267658_7267659del | CA2553702340 | INSR | c.338_339del (p.Arg113ProfsTer4) n.313_314del c.416_417del (p.Arg139ProfsTer4) | |
| 19 | g.7267659C>A | CA403159951 | INSR | c.338G>T (p.Arg113Leu) n.313G>T c.416G>T (p.Arg139Leu) | dbSNP gnomAD v4 |
| 19 | g.7267659C= | CA2320836495 | INSR | c.338G= (p.Arg113=) n.313G= c.416G= (p.Arg139=) | |
| 19 | g.7267659C>G | CA124255 | INSR | c.338G>C (p.Arg113Pro) n.313G>C c.416G>C (p.Arg139Pro) | ClinVar dbSNP |
| 19 | g.7267659C>T | CA403159953 | INSR | c.338G>A (p.Arg113Gln) n.313G>A c.416G>A (p.Arg139Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7267660G>A | CA403159954 | INSR | c.337C>T (p.Arg113Ter) n.312C>T c.415C>T (p.Arg139Ter) | gnomAD v4 |
| 19 | g.7267660G>C | CA403159955 | INSR | c.337C>G (p.Arg113Gly) n.312C>G c.415C>G (p.Arg139Gly) | |
| 19 | g.7267660G= | CA2320836496 | INSR | c.337C= (p.Arg113=) n.312C= c.415C= (p.Arg139=) | |
| 19 | g.7267660G>T | CA505481955 | INSR | c.337C>A (p.Arg113=) n.312C>A c.415C>A (p.Arg139=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7267661T>A | CA505481956 | INSR | c.336A>T (p.Ser112=) n.311A>T c.414A>T (p.Ser138=) | |
| 19 | g.7267661T>C | CA505481958 | INSR | c.336A>G (p.Ser112=) n.311A>G c.414A>G (p.Ser138=) | |
| 19 | g.7267661T>G | CA505481959 | INSR | c.336A>C (p.Ser112=) n.311A>C c.414A>C (p.Ser138=) | gnomAD v4 |
| 19 | g.7267662G>A | CA403159958 | INSR | c.335C>T (p.Ser112Leu) n.310C>T c.413C>T (p.Ser138Leu) | |
| 19 | g.7267662G>C | CA403159957 | INSR | c.335C>G (p.Ser112Ter) n.310C>G c.413C>G (p.Ser138Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7267662G= | CA2320836497 | INSR | c.335C= (p.Ser112=) n.310C= c.413C= (p.Ser138=) | |
| 19 | g.7267662G>T | CA403159956 | INSR | c.335C>A (p.Ser112Ter) n.310C>A c.413C>A (p.Ser138Ter) | |
| 19 | g.7267662_7267663insGG | CA2542160728 | INSR | c.335_336insCC (p.Arg113HisfsTer25) n.310_311insCC c.413_414insCC (p.Arg139HisfsTer25) | |
| 19 | g.7267663A>C | CA403159959 | INSR | c.334T>G (p.Ser112Ala) n.309T>G c.412T>G (p.Ser138Ala) | |
| 19 | g.7267663A>G | CA403159961 | INSR | c.334T>C (p.Ser112Pro) n.309T>C c.412T>C (p.Ser138Pro) | |
| 19 | g.7267663A>T | CA403159960 | INSR | c.334T>A (p.Ser112Thr) n.309T>A c.412T>A (p.Ser138Thr) | |
| 19 | g.7267664T>A | CA505481965 | INSR | c.333A>T (p.Gly111=) n.308A>T c.411A>T (p.Gly137=) | |
| 19 | g.7267664T>C | CA505481964 | INSR | c.333A>G (p.Gly111=) n.308A>G c.411A>G (p.Gly137=) | dbSNP |
| 19 | g.7267664T>G | CA505481963 | INSR | c.333A>C (p.Gly111=) n.308A>C c.411A>C (p.Gly137=) | |
| 19 | g.7267665C>A | CA403159962 | INSR | c.332G>T (p.Gly111Val) n.307G>T c.410G>T (p.Gly137Val) | dbSNP |
| 19 | g.7267665C= | CA2320836498 | INSR | c.332G= (p.Gly111=) n.307G= c.410G= (p.Gly137=) | |
| 19 | g.7267665C>G | CA403159964 | INSR | c.332G>C (p.Gly111Ala) n.307G>C c.410G>C (p.Gly137Ala) | |
| 19 | g.7267665C>T | CA403159963 | INSR | c.332G>A (p.Gly111Glu) n.307G>A c.410G>A (p.Gly137Glu) | gnomAD v4 |
| 19 | g.7267666C>A | CA403159965 | INSR | c.331G>T (p.Gly111Ter) n.306G>T c.409G>T (p.Gly137Ter) | |
| 19 | g.7267666C>G | CA403159966 | INSR | c.331G>C (p.Gly111Arg) n.306G>C c.409G>C (p.Gly137Arg) | |
| 19 | g.7267666C>T | CA403159967 | INSR | c.331G>A (p.Gly111Arg) n.306G>A c.409G>A (p.Gly137Arg) | gnomAD v4 |
| 19 | g.7267667C>A | CA505481966 | INSR | c.330G>T (p.Arg110=) n.305G>T c.408G>T (p.Arg136=) | |
| 19 | g.7267667C>G | CA505481967 | INSR | c.330G>C (p.Arg110=) n.305G>C c.408G>C (p.Arg136=) | |
| 19 | g.7267667C>T | CA505481968 | INSR | c.330G>A (p.Arg110=) n.305G>A c.408G>A (p.Arg136=) | |
| 19 | g.7267668C>A | CA403159968 | INSR | c.329G>T (p.Arg110Leu) n.304G>T c.407G>T (p.Arg136Leu) | |
| 19 | g.7267668C>G | CA403159969 | INSR | c.329G>C (p.Arg110Pro) n.304G>C c.407G>C (p.Arg136Pro) | |
| 19 | g.7267668C>T | CA403159970 | INSR | c.329G>A (p.Arg110Gln) n.304G>A c.407G>A (p.Arg136Gln) | ClinVar |
| 19 | g.7267669G>A | CA403159971 | INSR | c.328C>T (p.Arg110Trp) n.303C>T c.406C>T (p.Arg136Trp) | dbSNP gnomAD v4 |
| 19 | g.7267669G>C | CA403159972 | INSR | c.328C>G (p.Arg110Gly) n.303C>G c.406C>G (p.Arg136Gly) | |
| 19 | g.7267669G= | CA2320836499 | INSR | c.328C= (p.Arg110=) n.303C= c.406C= (p.Arg136=) | |
| 19 | g.7267669G>T | CA9136135 | INSR | c.328C>A (p.Arg110=) n.303C>A c.406C>A (p.Arg136=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7267670dup | CA2735547924 | INSR | c.328dup (p.Arg110ProfsTer8) n.303dup c.406dup (p.Arg136ProfsTer8) | dbSNP |
| 19 | g.7267670G>A | CA505481971 | INSR | c.327C>T (p.Ile109=) n.302C>T c.405C>T (p.Ile135=) | |
| 19 | g.7267670G>C | CA403159973 | INSR | c.327C>G (p.Ile109Met) n.302C>G c.405C>G (p.Ile135Met) | |
| 19 | g.7267670G>T | CA505481970 | INSR | c.327C>A (p.Ile109=) n.302C>A c.405C>A (p.Ile135=) | |
| 19 | g.7267671A>C | CA403159975 | INSR | c.326T>G (p.Ile109Ser) n.301T>G c.404T>G (p.Ile135Ser) | |
| 19 | g.7267671A>G | CA403159977 | INSR | c.326T>C (p.Ile109Thr) n.301T>C c.404T>C (p.Ile135Thr) | |
| 19 | g.7267671A>T | CA403159979 | INSR | c.326T>A (p.Ile109Asn) n.301T>A c.404T>A (p.Ile135Asn) | |
| 19 | g.7267672T>A | CA403159981 | INSR | c.325A>T (p.Ile109Phe) n.300A>T c.403A>T (p.Ile135Phe) | |
| 19 | g.7267672T>C | CA403159984 | INSR | c.325A>G (p.Ile109Val) n.300A>G c.403A>G (p.Ile135Val) | |
| 19 | g.7267672T>G | CA403159982 | INSR | c.325A>C (p.Ile109Leu) n.300A>C c.403A>C (p.Ile135Leu) | |
| 19 | g.7267673G>A | CA505481973 | INSR | c.324C>T (p.Val108=) n.299C>T c.402C>T (p.Val134=) | |
| 19 | g.7267673G>C | CA505481974 | INSR | c.324C>G (p.Val108=) n.299C>G c.402C>G (p.Val134=) | |
| 19 | g.7267673G>T | CA505481975 | INSR | c.324C>A (p.Val108=) n.299C>A c.402C>A (p.Val134=) | |
| 19 | g.7267674A= | CA2320836500 | INSR | c.323T= (p.Val108=) n.298T= c.401T= (p.Val134=) | |
| 19 | g.7267674A>C | CA403159986 | INSR | c.323T>G (p.Val108Gly) n.298T>G c.401T>G (p.Val134Gly) | |
| 19 | g.7267674A>G | CA403159987 | INSR | c.323T>C (p.Val108Ala) n.298T>C c.401T>C (p.Val134Ala) | |
| 19 | g.7267674A>T | CA403159989 | INSR | c.323T>A (p.Val108Asp) n.298T>A c.401T>A (p.Val134Asp) | dbSNP |
| 19 | g.7267675C>A | CA403159991 | INSR | c.322G>T (p.Val108Phe) n.297G>T c.400G>T (p.Val134Phe) | |
| 19 | g.7267675C>G | CA403159992 | INSR | c.322G>C (p.Val108Leu) n.297G>C c.400G>C (p.Val134Leu) | |
| 19 | g.7267675C>T | CA403159994 | INSR | c.322G>A (p.Val108Ile) n.297G>A c.400G>A (p.Val134Ile) | |
| 19 | g.7267676C>A | CA505481977 | INSR | c.321G>T (p.Thr107=) n.296G>T c.399G>T (p.Thr133=) | |
| 19 | g.7267676C>G | CA505481978 | INSR | c.321G>C (p.Thr107=) n.296G>C c.399G>C (p.Thr133=) | |
| 19 | g.7267676C>T | CA505481976 | INSR | c.321G>A (p.Thr107=) n.296G>A c.399G>A (p.Thr133=) | |
| 19 | g.7267677G>A | CA9136136 | INSR | c.320C>T (p.Thr107Met) n.295C>T c.398C>T (p.Thr133Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7267677G>C | CA403159997 | INSR | c.320C>G (p.Thr107Arg) n.295C>G c.398C>G (p.Thr133Arg) | |
| 19 | g.7267677G= | CA2320836501 | INSR | c.320C= (p.Thr107=) n.295C= c.398C= (p.Thr133=) | |
| 19 | g.7267677G>T | CA403159998 | INSR | c.320C>A (p.Thr107Lys) n.295C>A c.398C>A (p.Thr133Lys) | |
| 19 | g.7267678T>A | CA403160004 | INSR | c.319A>T (p.Thr107Ser) n.294A>T c.397A>T (p.Thr133Ser) | |
| 19 | g.7267678T>C | CA403160002 | INSR | c.319A>G (p.Thr107Ala) n.294A>G c.397A>G (p.Thr133Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7267678T>G | CA403160000 | INSR | c.319A>C (p.Thr107Pro) n.294A>C c.397A>C (p.Thr133Pro) | |
| 19 | g.7267678T= | CA2320836502 | INSR | c.319A= (p.Thr107=) n.294A= c.397A= (p.Thr133=) | |
| 19 | g.7267679G>A | CA505481980 | INSR | c.318C>T (p.Leu106=) n.293C>T c.396C>T (p.Leu132=) | gnomAD v4 |
| 19 | g.7267679G>C | CA505481981 | INSR | c.318C>G (p.Leu106=) n.293C>G c.396C>G (p.Leu132=) | dbSNP |
| 19 | g.7267679G= | CA2320836503 | INSR | c.318C= (p.Leu106=) n.293C= c.396C= (p.Leu132=) | |
| 19 | g.7267679G>T | CA505481982 | INSR | c.318C>A (p.Leu106=) n.293C>A c.396C>A (p.Leu132=) | dbSNP gnomAD v4 |
| 19 | g.7267680A>C | CA403160006 | INSR | c.317T>G (p.Leu106Arg) n.292T>G c.395T>G (p.Leu132Arg) | |
| 19 | g.7267680A>G | CA403160007 | INSR | c.317T>C (p.Leu106Pro) n.292T>C c.395T>C (p.Leu132Pro) | gnomAD v4 |
| 19 | g.7267680A>T | CA403160009 | INSR | c.317T>A (p.Leu106His) n.292T>A c.395T>A (p.Leu132His) | |
| 19 | g.7267681G>A | CA403160010 | INSR | c.316C>T (p.Leu106Phe) n.291C>T c.394C>T (p.Leu132Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7267681G>C | CA403160011 | INSR | c.316C>G (p.Leu106Val) n.291C>G c.394C>G (p.Leu132Val) | |
| 19 | g.7267681G= | CA2320836504 | INSR | c.316C= (p.Leu106=) n.291C= c.394C= (p.Leu132=) | |
| 19 | g.7267681G>T | CA403160013 | INSR | c.316C>A (p.Leu106Ile) n.291C>A c.394C>A (p.Leu132Ile) | |
| 19 | g.7267682G>A | CA505481983 | INSR | c.315C>T (p.Asn105=) n.290C>T c.393C>T (p.Asn131=) | gnomAD v4 |
| 19 | g.7267682G>C | CA403160017 | INSR | c.315C>G (p.Asn105Lys) n.290C>G c.393C>G (p.Asn131Lys) | |
| 19 | g.7267682G>T | CA403160015 | INSR | c.315C>A (p.Asn105Lys) n.290C>A c.393C>A (p.Asn131Lys) | |
| 19 | g.7267683T>A | CA403160019 | INSR | c.314A>T (p.Asn105Ile) n.289A>T c.392A>T (p.Asn131Ile) | |
| 19 | g.7267683T>C | CA403160021 | INSR | c.314A>G (p.Asn105Ser) n.289A>G c.392A>G (p.Asn131Ser) | dbSNP gnomAD v4 |
| 19 | g.7267683T>G | CA403160022 | INSR | c.314A>C (p.Asn105Thr) n.289A>C c.392A>C (p.Asn131Thr) | |
| 19 | g.7267683T= | CA2320836505 | INSR | c.314A= (p.Asn105=) n.289A= c.392A= (p.Asn131=) | |
| 19 | g.7267684T>A | CA403160024 | INSR | c.313A>T (p.Asn105Tyr) n.288A>T c.391A>T (p.Asn131Tyr) | |
| 19 | g.7267684T>C | CA403160025 | INSR | c.313A>G (p.Asn105Asp) n.288A>G c.391A>G (p.Asn131Asp) | |
| 19 | g.7267684T>G | CA403160027 | INSR | c.313A>C (p.Asn105His) n.288A>C c.391A>C (p.Asn131His) | |
| 19 | g.7267685G>A | CA505481985 | INSR | c.312C>T (p.Pro104=) n.287C>T c.390C>T (p.Pro130=) | |
| 19 | g.7267685G>C | CA505481986 | INSR | c.312C>G (p.Pro104=) n.287C>G c.390C>G (p.Pro130=) | dbSNP |
| 19 | g.7267685G= | CA2320836506 | INSR | c.312C= (p.Pro104=) n.287C= c.390C= (p.Pro130=) | |
| 19 | g.7267685G>T | CA505481987 | INSR | c.312C>A (p.Pro104=) n.287C>A c.390C>A (p.Pro130=) | |
| 19 | g.7267686G>A | CA403160029 | INSR | c.311C>T (p.Pro104Leu) n.286C>T c.389C>T (p.Pro130Leu) | |
| 19 | g.7267686G>C | CA403160031 | INSR | c.311C>G (p.Pro104Arg) n.286C>G c.389C>G (p.Pro130Arg) | |
| 19 | g.7267686G= | CA2320836507 | INSR | c.311C= (p.Pro104=) n.286C= c.389C= (p.Pro130=) | |
| 19 | g.7267686G>T | CA403160030 | INSR | c.311C>A (p.Pro104His) n.286C>A c.389C>A (p.Pro130His) | dbSNP |
| 19 | g.7267687G>A | CA403160032 | INSR | c.310C>T (p.Pro104Ser) n.285C>T c.388C>T (p.Pro130Ser) | |
| 19 | g.7267687G>C | CA403160033 | INSR | c.310C>G (p.Pro104Ala) n.285C>G c.388C>G (p.Pro130Ala) | |
| 19 | g.7267687G>T | CA403160035 | INSR | c.310C>A (p.Pro104Thr) n.285C>A c.388C>A (p.Pro130Thr) | |
| 19 | g.7267688G>A | CA505481988 | INSR | c.309C>T (p.Phe103=) n.284C>T c.387C>T (p.Phe129=) | ClinVar dbSNP |
| 19 | g.7267688G>C | CA403160037 | INSR | c.309C>G (p.Phe103Leu) n.284C>G c.387C>G (p.Phe129Leu) | |
| 19 | g.7267688G= | CA2320836508 | INSR | c.309C= (p.Phe103=) n.284C= c.387C= (p.Phe129=) | |
| 19 | g.7267688G>T | CA403160038 | INSR | c.309C>A (p.Phe103Leu) n.284C>A c.387C>A (p.Phe129Leu) | |
| 19 | g.7267689A>C | CA403160039 | INSR | c.308T>G (p.Phe103Cys) n.283T>G c.386T>G (p.Phe129Cys) | |
| 19 | g.7267689A>G | CA403160040 | INSR | c.308T>C (p.Phe103Ser) n.283T>C c.386T>C (p.Phe129Ser) | |
| 19 | g.7267689A>T | CA403160041 | INSR | c.308T>A (p.Phe103Tyr) n.283T>A c.386T>A (p.Phe129Tyr) | |
| 19 | g.7267690A= | CA2320836509 | INSR | c.307T= (p.Phe103=) n.282T= c.385T= (p.Phe129=) | |
| 19 | g.7267690A>C | CA403160043 | INSR | c.307T>G (p.Phe103Val) n.282T>G c.385T>G (p.Phe129Val) | |
| 19 | g.7267690A>G | CA403160045 | INSR | c.307T>C (p.Phe103Leu) n.282T>C c.385T>C (p.Phe129Leu) | ClinVar dbSNP |
| 19 | g.7267690A>T | CA403160046 | INSR | c.307T>A (p.Phe103Ile) n.282T>A c.385T>A (p.Phe129Ile) | |
| 19 | g.7267690_7267702del | CA2695228066 | INSR | c.295_307del (p.Leu99SerfsTer?) n.270_282del c.373_385del (p.Leu125SerfsTer?) | |
| 19 | g.7267691C>A | CA505481990 | INSR | c.306G>T (p.Leu102=) n.281G>T c.384G>T (p.Leu128=) | |
| 19 | g.7267691C= | CA2320836510 | INSR | c.306G= (p.Leu102=) n.281G= c.384G= (p.Leu128=) | |
| 19 | g.7267691C>G | CA9136138 | INSR | c.306G>C (p.Leu102=) n.281G>C c.384G>C (p.Leu128=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7267691C>T | CA9136137 | INSR | c.306G>A (p.Leu102=) n.281G>A c.384G>A (p.Leu128=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7267692A>C | CA403160049 | INSR | c.305T>G (p.Leu102Arg) n.280T>G c.383T>G (p.Leu128Arg) | |
| 19 | g.7267692A>G | CA403160053 | INSR | c.305T>C (p.Leu102Pro) n.280T>C c.383T>C (p.Leu128Pro) | |
| 19 | g.7267692A>T | CA403160050 | INSR | c.305T>A (p.Leu102Gln) n.280T>A c.383T>A (p.Leu128Gln) | |
| 19 | g.7267693G>A | CA505481991 | INSR | c.304C>T (p.Leu102=) n.279C>T c.382C>T (p.Leu128=) | |
| 19 | g.7267693G>C | CA403160054 | INSR | c.304C>G (p.Leu102Val) n.279C>G c.382C>G (p.Leu128Val) | |
| 19 | g.7267693G>T | CA403160055 | INSR | c.304C>A (p.Leu102Met) n.279C>A c.382C>A (p.Leu128Met) | gnomAD v4 |
| 19 | g.7267694G>A | CA505481992 | INSR | c.303C>T (p.Asp101=) n.278C>T c.381C>T (p.Asp127=) | |
| 19 | g.7267694G>C | CA403160058 | INSR | c.303C>G (p.Asp101Glu) n.278C>G c.381C>G (p.Asp127Glu) | |
| 19 | g.7267694G>T | CA403160060 | INSR | c.303C>A (p.Asp101Glu) n.278C>A c.381C>A (p.Asp127Glu) | |
| 19 | g.7267695T>A | CA403160061 | INSR | c.302A>T (p.Asp101Val) n.277A>T c.380A>T (p.Asp127Val) | |
| 19 | g.7267695T>C | CA403160062 | INSR | c.302A>G (p.Asp101Gly) n.277A>G c.380A>G (p.Asp127Gly) | |
| 19 | g.7267695T>G | CA403160064 | INSR | c.302A>C (p.Asp101Ala) n.277A>C c.380A>C (p.Asp127Ala) | |
| 19 | g.7267696C>A | CA403160065 | INSR | c.301G>T (p.Asp101Tyr) n.276G>T c.379G>T (p.Asp127Tyr) | gnomAD v4 |
| 19 | g.7267696C= | CA2320836511 | INSR | c.301G= (p.Asp101=) n.276G= c.379G= (p.Asp127=) | |
| 19 | g.7267696C>G | CA403160068 | INSR | c.301G>C (p.Asp101His) n.276G>C c.379G>C (p.Asp127His) | |
| 19 | g.7267696C>T | CA9136139 | INSR | c.301G>A (p.Asp101Asn) n.276G>A c.379G>A (p.Asp127Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7267697C>A | CA403160070 | INSR | c.300G>T (p.Lys100Asn) n.275G>T c.378G>T (p.Lys126Asn) | |
| 19 | g.7267697C= | CA2320836512 | INSR | c.300G= (p.Lys100=) n.275G= c.378G= (p.Lys126=) | |
| 19 | g.7267697C>G | CA403160072 | INSR | c.300G>C (p.Lys100Asn) n.275G>C c.378G>C (p.Lys126Asn) | |
| 19 | g.7267697C>T | CA505481993 | INSR | c.300G>A (p.Lys100=) n.275G>A c.378G>A (p.Lys126=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7267698T>A | CA403160073 | INSR | c.299A>T (p.Lys100Met) n.274A>T c.377A>T (p.Lys126Met) | gnomAD v4 |
| 19 | g.7267698T>C | CA403160077 | INSR | c.299A>G (p.Lys100Arg) n.274A>G c.377A>G (p.Lys126Arg) | |
| 19 | g.7267698T>G | CA403160075 | INSR | c.299A>C (p.Lys100Thr) n.274A>C c.377A>C (p.Lys126Thr) | |
| 19 | g.7267699T>A | CA403160079 | INSR | c.298A>T (p.Lys100Ter) n.273A>T c.376A>T (p.Lys126Ter) | |
| 19 | g.7267699T>C | CA403160080 | INSR | c.298A>G (p.Lys100Glu) n.273A>G c.376A>G (p.Lys126Glu) | |
| 19 | g.7267699T>G | CA403160082 | INSR | c.298A>C (p.Lys100Gln) n.273A>C c.376A>C (p.Lys126Gln) | |
| 19 | g.7267700C>A | CA505481998 | INSR | c.297G>T (p.Leu99=) n.272G>T c.375G>T (p.Leu125=) | ClinVar |
| 19 | g.7267700C= | CA2320836513 | INSR | c.297G= (p.Leu99=) n.272G= c.375G= (p.Leu125=) | |
| 19 | g.7267700C>G | CA505481999 | INSR | c.297G>C (p.Leu99=) n.272G>C c.375G>C (p.Leu125=) | |
| 19 | g.7267700C>T | CA505481997 | INSR | c.297G>A (p.Leu99=) n.272G>A c.375G>A (p.Leu125=) | dbSNP gnomAD v4 |
| 19 | g.7267701A>C | CA403160084 | INSR | c.296T>G (p.Leu99Arg) n.271T>G c.374T>G (p.Leu125Arg) | |
| 19 | g.7267701A>G | CA403160085 | INSR | c.296T>C (p.Leu99Pro) n.271T>C c.374T>C (p.Leu125Pro) | |
| 19 | g.7267701A>T | CA403160087 | INSR | c.296T>A (p.Leu99Gln) n.271T>A c.374T>A (p.Leu125Gln) | |
| 19 | g.7267702G>A | CA505482001 | INSR | c.295C>T (p.Leu99=) n.270C>T c.373C>T (p.Leu125=) | |
| 19 | g.7267702G>C | CA403160089 | INSR | c.295C>G (p.Leu99Val) n.270C>G c.373C>G (p.Leu125Val) | |
| 19 | g.7267702G>T | CA403160091 | INSR | c.295C>A (p.Leu99Met) n.270C>A c.373C>A (p.Leu125Met) | |
| 19 | g.7267703G>A | CA505482002 | INSR | c.294C>T (p.Ser98=) n.269C>T c.372C>T (p.Ser124=) | gnomAD v4 |
| 19 | g.7267703G>C | CA403160092 | INSR | c.294C>G (p.Ser98Arg) n.269C>G c.372C>G (p.Ser124Arg) | |
| 19 | g.7267703G>T | CA403160094 | INSR | c.294C>A (p.Ser98Arg) n.269C>A c.372C>A (p.Ser124Arg) | |
| 19 | g.7267704C>A | CA403160097 | INSR | c.293G>T (p.Ser98Ile) n.268G>T c.371G>T (p.Ser124Ile) | |
| 19 | g.7267704C>G | CA403160099 | INSR | c.293G>C (p.Ser98Thr) n.268G>C c.371G>C (p.Ser124Thr) | |
| 19 | g.7267704C>T | CA403160096 | INSR | c.293G>A (p.Ser98Asn) n.268G>A c.371G>A (p.Ser124Asn) | |
| 19 | g.7267705T>A | CA403160101 | INSR | c.292A>T (p.Ser98Cys) n.267A>T c.370A>T (p.Ser124Cys) | |
| 19 | g.7267705T>C | CA403160103 | INSR | c.292A>G (p.Ser98Gly) n.267A>G c.370A>G (p.Ser124Gly) | |
| 19 | g.7267705T>G | CA403160104 | INSR | c.292A>C (p.Ser98Arg) n.267A>C c.370A>C (p.Ser124Arg) | |
| 19 | g.7267706C>A | CA403160106 | INSR | c.291G>T (p.Glu97Asp) n.266G>T c.369G>T (p.Glu123Asp) | |
| 19 | g.7267706C>G | CA403160108 | INSR | c.291G>C (p.Glu97Asp) n.266G>C c.369G>C (p.Glu123Asp) | |
| 19 | g.7267706C>T | CA505482004 | INSR | c.291G>A (p.Glu97=) n.266G>A c.369G>A (p.Glu123=) | |
| 19 | g.7267707T>A | CA403160112 | INSR | c.290A>T (p.Glu97Val) n.265A>T c.368A>T (p.Glu123Val) | |
| 19 | g.7267707T>C | CA403160111 | INSR | c.290A>G (p.Glu97Gly) n.265A>G c.368A>G (p.Glu123Gly) | |
| 19 | g.7267707T>G | CA403160110 | INSR | c.290A>C (p.Glu97Ala) n.265A>C c.368A>C (p.Glu123Ala) | |
| 19 | g.7267708C>A | CA403160114 | INSR | c.289G>T (p.Glu97Ter) n.264G>T c.367G>T (p.Glu123Ter) | |
| 19 | g.7267708C>G | CA403160116 | INSR | c.289G>C (p.Glu97Gln) n.264G>C c.367G>C (p.Glu123Gln) | |
| 19 | g.7267708C>T | CA403160117 | INSR | c.289G>A (p.Glu97Lys) n.264G>A c.367G>A (p.Glu123Lys) | gnomAD v4 |
| 19 | g.7267709G>A | CA505482008 | INSR | c.288C>T (p.Leu96=) n.263C>T c.366C>T (p.Leu122=) | dbSNP gnomAD v4 |
| 19 | g.7267709G>C | CA505482009 | INSR | c.288C>G (p.Leu96=) n.263C>G c.366C>G (p.Leu122=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.7267709G= | CA2320836514 | INSR | c.288C= (p.Leu96=) n.263C= c.366C= (p.Leu122=) | |
| 19 | g.7267709G>T | CA505482010 | INSR | c.288C>A (p.Leu96=) n.263C>A c.366C>A (p.Leu122=) | |
| 19 | g.7267710A>C | CA403160119 | INSR | c.287T>G (p.Leu96Arg) n.262T>G c.365T>G (p.Leu122Arg) | |
| 19 | g.7267710A>G | CA403160120 | INSR | c.287T>C (p.Leu96Pro) n.262T>C c.365T>C (p.Leu122Pro) | |
| 19 | g.7267710A>T | CA403160122 | INSR | c.287T>A (p.Leu96His) n.262T>A c.365T>A (p.Leu122His) | |
| 19 | g.7267711G>A | CA9136140 | INSR | c.286C>T (p.Leu96Phe) n.261C>T c.364C>T (p.Leu122Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7267711G>C | CA403160126 | INSR | c.286C>G (p.Leu96Val) n.261C>G c.364C>G (p.Leu122Val) | |
| 19 | g.7267711G= | CA2320836515 | INSR | c.286C= (p.Leu96=) n.261C= c.364C= (p.Leu122=) | |
| 19 | g.7267711G>T | CA403160125 | INSR | c.286C>A (p.Leu96Ile) n.261C>A c.364C>A (p.Leu122Ile) | |
| 19 | g.7267712C>A | CA505482014 | INSR | c.285G>T (p.Gly95=) n.260G>T c.363G>T (p.Gly121=) | |
| 19 | g.7267712C>G | CA505482015 | INSR | c.285G>C (p.Gly95=) n.260G>C c.363G>C (p.Gly121=) | |
| 19 | g.7267712C>T | CA505482013 | INSR | c.285G>A (p.Gly95=) n.260G>A c.363G>A (p.Gly121=) | |
| 19 | g.7267713C>A | CA403160128 | INSR | c.284G>T (p.Gly95Val) n.259G>T c.362G>T (p.Gly121Val) | |
| 19 | g.7267713C>G | CA403160130 | INSR | c.284G>C (p.Gly95Ala) n.259G>C c.362G>C (p.Gly121Ala) | |
| 19 | g.7267713C>T | CA403160131 | INSR | c.284G>A (p.Gly95Glu) n.259G>A c.362G>A (p.Gly121Glu) | |
| 19 | g.7267714C>A | CA403160133 | INSR | c.283G>T (p.Gly95Trp) n.258G>T c.361G>T (p.Gly121Trp) | |
| 19 | g.7267714C>G | CA403160135 | INSR | c.283G>C (p.Gly95Arg) n.258G>C c.361G>C (p.Gly121Arg) | |
| 19 | g.7267714C>T | CA403160137 | INSR | c.283G>A (p.Gly95Arg) n.258G>A c.361G>A (p.Gly121Arg) | |
| 19 | g.7267714_7267715delinsAC | CA2739291161 | INSR | c.282_283delinsGT (p.Tyr94Ter) n.257_258delinsGT c.360_361delinsGT (p.Tyr120Ter) | |
| 19 | g.7267715A= | CA2320836516 | INSR | c.282T= (p.Tyr94=) n.257T= c.360T= (p.Tyr120=) | |
| 19 | g.7267715A>C | CA403160138 | INSR | c.282T>G (p.Tyr94Ter) n.257T>G c.360T>G (p.Tyr120Ter) | |
| 19 | g.7267715A>G | CA505482017 | INSR | c.282T>C (p.Tyr94=) n.257T>C c.360T>C (p.Tyr120=) | dbSNP gnomAD v4 |
| 19 | g.7267715A>T | CA403160140 | INSR | c.282T>A (p.Tyr94Ter) n.257T>A c.360T>A (p.Tyr120Ter) | |
| 19 | g.7267716T>A | CA403160142 | INSR | c.281A>T (p.Tyr94Phe) n.256A>T c.359A>T (p.Tyr120Phe) | |
| 19 | g.7267716T>C | CA403160144 | INSR | c.281A>G (p.Tyr94Cys) n.256A>G c.359A>G (p.Tyr120Cys) | |
| 19 | g.7267716T>G | CA403160145 | INSR | c.281A>C (p.Tyr94Ser) n.256A>C c.359A>C (p.Tyr120Ser) | |
| 19 | g.7267717A>C | CA403160147 | INSR | c.280T>G (p.Tyr94Asp) n.255T>G c.358T>G (p.Tyr120Asp) | |
| 19 | g.7267717A>G | CA403160149 | INSR | c.280T>C (p.Tyr94His) n.255T>C c.358T>C (p.Tyr120His) | |
| 19 | g.7267717A>T | CA403160148 | INSR | c.280T>A (p.Tyr94Asn) n.255T>A c.358T>A (p.Tyr120Asn) | |
| 19 | g.7267718G>A | CA505482024 | INSR | c.279C>T (p.Val93=) n.254C>T c.357C>T (p.Val119=) | |
| 19 | g.7267718G>C | CA505482022 | INSR | c.279C>G (p.Val93=) n.254C>G c.357C>G (p.Val119=) | |
| 19 | g.7267718G>T | CA505482023 | INSR | c.279C>A (p.Val93=) n.254C>A c.357C>A (p.Val119=) | |
| 19 | g.7267719A= | CA2320836517 | INSR | c.278T= (p.Val93=) n.253T= c.356T= (p.Val119=) | |
| 19 | g.7267719A>C | CA403160151 | INSR | c.278T>G (p.Val93Gly) n.253T>G c.356T>G (p.Val119Gly) | |
| 19 | g.7267719A>G | CA403160154 | INSR | c.278T>C (p.Val93Ala) n.253T>C c.356T>C (p.Val119Ala) | dbSNP |
| 19 | g.7267719A>T | CA403160153 | INSR | c.278T>A (p.Val93Asp) n.253T>A c.356T>A (p.Val119Asp) | |
| 19 | g.7267720C>A | CA403160155 | INSR | c.277G>T (p.Val93Phe) n.252G>T c.355G>T (p.Val119Phe) | gnomAD v4 |
| 19 | g.7267720C= | CA2320836518 | INSR | c.277G= (p.Val93=) n.252G= c.355G= (p.Val119=) | |
| 19 | g.7267720C>G | CA403160159 | INSR | c.277G>C (p.Val93Leu) n.252G>C c.355G>C (p.Val119Leu) | |
| 19 | g.7267720C>T | CA403160157 | INSR | c.277G>A (p.Val93Ile) n.252G>A c.355G>A (p.Val119Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7267722del | CA2587926464 | INSR | c.277del (p.Val93SerfsTer7) n.252del c.355del (p.Val119SerfsTer7) | gnomAD v4 |
| 19 | g.7267721C>A | CA9136141 | INSR | c.276G>T (p.Arg92=) n.251G>T c.354G>T (p.Arg118=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7267721C= | CA2320836519 | INSR | c.276G= (p.Arg92=) n.251G= c.354G= (p.Arg118=) | |
| 19 | g.7267721C>G | CA505482026 | INSR | c.276G>C (p.Arg92=) n.251G>C c.354G>C (p.Arg118=) | |
| 19 | g.7267721C>T | CA505482027 | INSR | c.276G>A (p.Arg92=) n.251G>A c.354G>A (p.Arg118=) | |
| 19 | g.7267722C>A | CA403160163 | INSR | c.275G>T (p.Arg92Leu) n.250G>T c.353G>T (p.Arg118Leu) | COSMIC COSMIC |
| 19 | g.7267722C= | CA2320836520 | INSR | c.275G= (p.Arg92=) n.250G= c.353G= (p.Arg118=) | |
| 19 | g.7267722C>G | CA403160161 | INSR | c.275G>C (p.Arg92Pro) n.250G>C c.353G>C (p.Arg118Pro) | |
| 19 | g.7267722C>T | CA9136142 | INSR | c.275G>A (p.Arg92Gln) n.250G>A c.353G>A (p.Arg118Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7267723G>A | CA403160165 | INSR | c.274C>T (p.Arg92Trp) n.249C>T c.352C>T (p.Arg118Trp) | dbSNP |
| 19 | g.7267723G>C | CA403160166 | INSR | c.274C>G (p.Arg92Gly) n.249C>G c.352C>G (p.Arg118Gly) | gnomAD v4 |
| 19 | g.7267723G= | CA2320836521 | INSR | c.274C= (p.Arg92=) n.249C= c.352C= (p.Arg118=) | |
| 19 | g.7267723G>T | CA505482029 | INSR | c.274C>A (p.Arg92=) n.249C>A c.352C>A (p.Arg118=) | |
| 19 | g.7267724G>A | CA505482030 | INSR | c.273C>T (p.Phe91=) n.248C>T c.351C>T (p.Phe117=) | dbSNP gnomAD v4 |
| 19 | g.7267724G>C | CA403160168 | INSR | c.273C>G (p.Phe91Leu) n.248C>G c.351C>G (p.Phe117Leu) | |
| 19 | g.7267724G= | CA2320836522 | INSR | c.273C= (p.Phe91=) n.248C= c.351C= (p.Phe117=) | |
| 19 | g.7267724G>T | CA403160170 | INSR | c.273C>A (p.Phe91Leu) n.248C>A c.351C>A (p.Phe117Leu) | |
| 19 | g.7267725A>C | CA403160172 | INSR | c.272T>G (p.Phe91Cys) n.247T>G c.350T>G (p.Phe117Cys) | |
| 19 | g.7267725A>G | CA403160173 | INSR | c.272T>C (p.Phe91Ser) n.247T>C c.350T>C (p.Phe117Ser) | |
| 19 | g.7267725A>T | CA403160174 | INSR | c.272T>A (p.Phe91Tyr) n.247T>A c.350T>A (p.Phe117Tyr) | |
| 19 | g.7267726A>C | CA403160175 | INSR | c.271T>G (p.Phe91Val) n.246T>G c.349T>G (p.Phe117Val) | |
| 19 | g.7267726A>G | CA403160177 | INSR | c.271T>C (p.Phe91Leu) n.246T>C c.349T>C (p.Phe117Leu) | COSMIC COSMIC |
| 19 | g.7267726A>T | CA403160179 | INSR | c.271T>A (p.Phe91Ile) n.246T>A c.349T>A (p.Phe117Ile) | |
| 19 | g.7267727G>A | CA9136143 | INSR | c.270C>T (p.Leu90=) n.245C>T c.348C>T (p.Leu116=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7267727G>C | CA505482031 | INSR | c.270C>G (p.Leu90=) n.245C>G c.348C>G (p.Leu116=) | |
| 19 | g.7267727G= | CA2320836523 | INSR | c.270C= (p.Leu90=) n.245C= c.348C= (p.Leu116=) | |
| 19 | g.7267727G>T | CA505482032 | INSR | c.270C>A (p.Leu90=) n.245C>A c.348C>A (p.Leu116=) | |
| 19 | g.7267728A>C | CA403160183 | INSR | c.269T>G (p.Leu90Arg) n.244T>G c.347T>G (p.Leu116Arg) | |
| 19 | g.7267728A>G | CA403160182 | INSR | c.269T>C (p.Leu90Pro) n.244T>C c.347T>C (p.Leu116Pro) | |
| 19 | g.7267728A>T | CA403160181 | INSR | c.269T>A (p.Leu90His) n.244T>A c.347T>A (p.Leu116His) | |
| 19 | g.7267729G>A | CA9136144 | INSR | c.268C>T (p.Leu90Phe) n.243C>T c.346C>T (p.Leu116Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.7267729G>C | CA403160185 | INSR | c.268C>G (p.Leu90Val) n.243C>G c.346C>G (p.Leu116Val) | |
| 19 | g.7267729G= | CA2320836524 | INSR | c.268C= (p.Leu90=) n.243C= c.346C= (p.Leu116=) | |
| 19 | g.7267729G>T | CA403160187 | INSR | c.268C>A (p.Leu90Ile) n.243C>A c.346C>A (p.Leu116Ile) | |
| 19 | g.7267730C>A | CA505482033 | INSR | c.267G>T (p.Leu89=) n.242G>T c.345G>T (p.Leu115=) | |
| 19 | g.7267730C>G | CA505482034 | INSR | c.267G>C (p.Leu89=) n.242G>C c.345G>C (p.Leu115=) | |
| 19 | g.7267730C>T | CA505482035 | INSR | c.267G>A (p.Leu89=) n.242G>A c.345G>A (p.Leu115=) | |
| 19 | g.7267731A>C | CA403160189 | INSR | c.266T>G (p.Leu89Arg) n.241T>G c.344T>G (p.Leu115Arg) | |
| 19 | g.7267731A>G | CA403160191 | INSR | c.266T>C (p.Leu89Pro) n.241T>C c.344T>C (p.Leu115Pro) | |
| 19 | g.7267731A>T | CA403160192 | INSR | c.266T>A (p.Leu89Gln) n.241T>A c.344T>A (p.Leu115Gln) | |
| 19 | g.7267732G>A | CA505482036 | INSR | c.265C>T (p.Leu89=) n.240C>T c.343C>T (p.Leu115=) | |
| 19 | g.7267732G>C | CA403160194 | INSR | c.265C>G (p.Leu89Val) n.240C>G c.343C>G (p.Leu115Val) | |
| 19 | g.7267732G>T | CA403160196 | INSR | c.265C>A (p.Leu89Met) n.240C>A c.343C>A (p.Leu115Met) | |
| 19 | g.7267733C>A | CA403160198 | INSR | c.264G>T (p.Leu88Phe) n.239G>T c.342G>T (p.Leu114Phe) | |
| 19 | g.7267733C= | CA2320836525 | INSR | c.264G= (p.Leu88=) n.239G= c.342G= (p.Leu114=) | |
| 19 | g.7267733C>G | CA403160200 | INSR | c.264G>C (p.Leu88Phe) n.239G>C c.342G>C (p.Leu114Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7267733C>T | CA505482037 | INSR | c.264G>A (p.Leu88=) n.239G>A c.342G>A (p.Leu114=) | |
| 19 | g.7267734A>C | CA403160202 | INSR | c.263T>G (p.Leu88Trp) n.238T>G c.341T>G (p.Leu114Trp) | |
| 19 | g.7267734A>G | CA403160203 | INSR | c.263T>C (p.Leu88Ser) n.238T>C c.341T>C (p.Leu114Ser) | |
| 19 | g.7267734A>T | CA403160204 | INSR | c.263T>A (p.Leu88Ter) n.238T>A c.341T>A (p.Leu114Ter) | |
| 19 | g.7267735A= | CA2320836526 | INSR | c.262T= (p.Leu88=) n.237T= c.340T= (p.Leu114=) | |
| 19 | g.7267735A>C | CA403160207 | INSR | c.262T>G (p.Leu88Val) n.237T>G c.340T>G (p.Leu114Val) | gnomAD v4 |
| 19 | g.7267735A>G | CA9136145 | INSR | c.262T>C (p.Leu88=) n.237T>C c.340T>C (p.Leu114=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7267735A>T | CA403160206 | INSR | c.262T>A (p.Leu88Met) n.237T>A c.340T>A (p.Leu114Met) | |
| 19 | g.7267736G>A | CA9136146 | INSR | c.261C>T (p.Tyr87=) n.236C>T c.339C>T (p.Tyr113=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7267736G>C | CA403160209 | INSR | c.261C>G (p.Tyr87Ter) n.236C>G c.339C>G (p.Tyr113Ter) | |
| 19 | g.7267736G= | CA2320836527 | INSR | c.261C= (p.Tyr87=) n.236C= c.339C= (p.Tyr113=) | |
| 19 | g.7267736G>T | CA403160210 | INSR | c.261C>A (p.Tyr87Ter) n.236C>A c.339C>A (p.Tyr113Ter) | gnomAD v4 |
| 19 | g.7267736_7267737insC | CA2695228067 | INSR | c.260_261insG (p.Tyr87Ter) n.235_236insG c.338_339insG (p.Tyr113Ter) | |
| 19 | g.7267737T>A | CA403160212 | INSR | c.260A>T (p.Tyr87Phe) n.235A>T c.338A>T (p.Tyr113Phe) | |
| 19 | g.7267737T>C | CA403160214 | INSR | c.260A>G (p.Tyr87Cys) n.235A>G c.338A>G (p.Tyr113Cys) | |
| 19 | g.7267737T>G | CA403160216 | INSR | c.260A>C (p.Tyr87Ser) n.235A>C c.338A>C (p.Tyr113Ser) | |
| 19 | g.7267737_7267738insC | CA2587926495 | INSR | c.259_260insG (p.Tyr87Ter) n.234_235insG c.337_338insG (p.Tyr113Ter) | gnomAD v4 |
| 19 | g.7267738A>C | CA403160217 | INSR | c.259T>G (p.Tyr87Asp) n.234T>G c.337T>G (p.Tyr113Asp) | |
| 19 | g.7267738A>G | CA403160219 | INSR | c.259T>C (p.Tyr87His) n.234T>C c.337T>C (p.Tyr113His) | |
| 19 | g.7267738A>T | CA403160221 | INSR | c.259T>A (p.Tyr87Asn) n.234T>A c.337T>A (p.Tyr113Asn) | |
| 19 | g.7267739A>C | CA403160222 | INSR | c.258T>G (p.Asp86Glu) n.233T>G c.336T>G (p.Asp112Glu) | |
| 19 | g.7267739A>G | CA505482038 | INSR | c.258T>C (p.Asp86=) n.233T>C c.336T>C (p.Asp112=) | |
| 19 | g.7267739A>T | CA403160224 | INSR | c.258T>A (p.Asp86Glu) n.233T>A c.336T>A (p.Asp112Glu) | |
| 19 | g.7267740T>A | CA403160226 | INSR | c.257A>T (p.Asp86Val) n.232A>T c.335A>T (p.Asp112Val) | |
| 19 | g.7267740T>C | CA403160227 | INSR | c.257A>G (p.Asp86Gly) n.232A>G c.335A>G (p.Asp112Gly) | |
| 19 | g.7267740T>G | CA403160229 | INSR | c.257A>C (p.Asp86Ala) n.232A>C c.335A>C (p.Asp112Ala) | |
| 19 | g.7267741C>A | CA403160234 | INSR | c.256G>T (p.Asp86Tyr) n.231G>T c.334G>T (p.Asp112Tyr) | |
| 19 | g.7267741C>G | CA403160230 | INSR | c.256G>C (p.Asp86His) n.231G>C c.334G>C (p.Asp112His) | |
| 19 | g.7267741C>T | CA403160232 | INSR | c.256G>A (p.Asp86Asn) n.231G>A c.334G>A (p.Asp112Asn) | |
| 19 | g.7267742A>C | CA505482039 | INSR | c.255T>G (p.Thr85=) n.230T>G c.333T>G (p.Thr111=) | |
| 19 | g.7267742A>G | CA505482040 | INSR | c.255T>C (p.Thr85=) n.230T>C c.333T>C (p.Thr111=) | gnomAD v4 |
| 19 | g.7267742A>T | CA505482041 | INSR | c.255T>A (p.Thr85=) n.230T>A c.333T>A (p.Thr111=) | |
| 19 | g.7267743G>A | CA403160236 | INSR | c.254C>T (p.Thr85Ile) n.229C>T c.332C>T (p.Thr111Ile) | |
| 19 | g.7267743G>C | CA403160237 | INSR | c.254C>G (p.Thr85Ser) n.229C>G c.332C>G (p.Thr111Ser) | |
| 19 | g.7267743G>T | CA403160239 | INSR | c.254C>A (p.Thr85Asn) n.229C>A c.332C>A (p.Thr111Asn) |