Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.7267634G>A | CA505481923 | INSR | c.363C>T (p.Val121=) n.338C>T c.441C>T (p.Val147=) | |
19 | g.7267634G>C | CA505481924 | INSR | c.363C>G (p.Val121=) n.338C>G c.441C>G (p.Val147=) | |
19 | g.7267634G>T | CA505481925 | INSR | c.363C>A (p.Val121=) n.338C>A c.441C>A (p.Val147=) | |
19 | g.7267635A>C | CA403159900 | INSR | c.362T>G (p.Val121Gly) n.337T>G c.440T>G (p.Val147Gly) | |
19 | g.7267635A>G | CA403159901 | INSR | c.362T>C (p.Val121Ala) n.337T>C c.440T>C (p.Val147Ala) | |
19 | g.7267635A>T | CA403159899 | INSR | c.362T>A (p.Val121Asp) n.337T>A c.440T>A (p.Val147Asp) | |
19 | g.7267636C>A | CA403159902 | INSR | c.361G>T (p.Val121Phe) n.336G>T c.439G>T (p.Val147Phe) | |
19 | g.7267636C>G | CA403159904 | INSR | c.361G>C (p.Val121Leu) n.336G>C c.439G>C (p.Val147Leu) | |
19 | g.7267636C>T | CA403159903 | INSR | c.361G>A (p.Val121Ile) n.336G>A c.439G>A (p.Val147Ile) | |
19 | g.7267637C>A | CA505481929 | INSR | c.360G>T (p.Leu120=) n.335G>T c.438G>T (p.Leu146=) | |
19 | g.7267637C>G | CA505481930 | INSR | c.360G>C (p.Leu120=) n.335G>C c.438G>C (p.Leu146=) | |
19 | g.7267637C>T | CA505481931 | INSR | c.360G>A (p.Leu120=) n.335G>A c.438G>A (p.Leu146=) | |
19 | g.7267638A>C | CA403159905 | INSR | c.359T>G (p.Leu120Arg) n.334T>G c.437T>G (p.Leu146Arg) | |
19 | g.7267638A>G | CA403159906 | INSR | c.359T>C (p.Leu120Pro) n.334T>C c.437T>C (p.Leu146Pro) | gnomAD v3 gnomAD v4 |
19 | g.7267638A>T | CA403159907 | INSR | c.359T>A (p.Leu120Gln) n.334T>A c.437T>A (p.Leu146Gln) | |
19 | g.7267639G>A | CA505481932 | INSR | c.358C>T (p.Leu120=) n.333C>T c.436C>T (p.Leu146=) | gnomAD v4 |
19 | g.7267639G>C | CA403159908 | INSR | c.358C>G (p.Leu120Val) n.333C>G c.436C>G (p.Leu146Val) | |
19 | g.7267639G>T | CA403159909 | INSR | c.358C>A (p.Leu120Met) n.333C>A c.436C>A (p.Leu146Met) | |
19 | g.7267640C>A | CA505481935 | INSR | c.357G>T (p.Ala119=) n.332G>T c.435G>T (p.Ala145=) | gnomAD v4 |
19 | g.7267640C= | CA2320836488 | INSR | c.357G= (p.Ala119=) n.332G= c.435G= (p.Ala145=) | |
19 | g.7267640C>G | CA505481933 | INSR | c.357G>C (p.Ala119=) n.332G>C c.435G>C (p.Ala145=) | dbSNP |
19 | g.7267640C>T | CA9136132 | INSR | c.357G>A (p.Ala119=) n.332G>A c.435G>A (p.Ala145=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.7267641G>A | CA403159910 | INSR | c.356C>T (p.Ala119Val) n.331C>T c.434C>T (p.Ala145Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7267641G>C | CA403159911 | INSR | c.356C>G (p.Ala119Gly) n.331C>G c.434C>G (p.Ala145Gly) | |
19 | g.7267641G= | CA2320836489 | INSR | c.356C= (p.Ala119=) n.331C= c.434C= (p.Ala145=) | |
19 | g.7267641G>T | CA403159912 | INSR | c.356C>A (p.Ala119Glu) n.331C>A c.434C>A (p.Ala145Glu) | |
19 | g.7267642C>A | CA403159913 | INSR | c.355G>T (p.Ala119Ser) n.330G>T c.433G>T (p.Ala145Ser) | |
19 | g.7267642C= | CA2320836490 | INSR | c.355G= (p.Ala119=) n.330G= c.433G= (p.Ala145=) | |
19 | g.7267642C>G | CA304648024 | INSR | c.355G>C (p.Ala119Pro) n.330G>C c.433G>C (p.Ala145Pro) | dbSNP gnomAD v4 |
19 | g.7267642C>T | CA403159914 | INSR | c.355G>A (p.Ala119Thr) n.330G>A c.433G>A (p.Ala145Thr) | dbSNP gnomAD v2 gnomAD v4 |
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) |