| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7131595_7132840del | CA124243 | INSR | c.2683-522_2842+564del c.2647-522_2806+564del c.2761-522_2920+564del c.2725-522_2884+564del | |
| 19 | g.7131614_7132859del | CA124244 | INSR | c.2683-542_2842+544del c.2647-542_2806+544del c.2761-542_2920+544del c.2725-542_2884+544del | |
| 19 | g.7132230G>A | CA124223 | INSR | c.2770C>T (p.Arg924Ter) c.2734C>T (p.Arg912Ter) c.2848C>T (p.Arg950Ter) c.2812C>T (p.Arg938Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 19 | g.7132230G>C | CA9135455 | INSR | c.2770C>G (p.Arg924Gly) c.2734C>G (p.Arg912Gly) c.2848C>G (p.Arg950Gly) c.2812C>G (p.Arg938Gly) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 19 | g.7132230G= | CA2320771076 | INSR | c.2770C= (p.Arg924=) c.2734C= (p.Arg912=) c.2848C= (p.Arg950=) c.2812C= (p.Arg938=) | |
| 19 | g.7132230G>T | CA505217545 | INSR | c.2770C>A (p.Arg924=) c.2734C>A (p.Arg912=) c.2848C>A (p.Arg950=) c.2812C>A (p.Arg938=) | |
| 19 | g.7132231C>A | CA505217548 | INSR | c.2769G>T (p.Val923=) c.2733G>T (p.Val911=) c.2847G>T (p.Val949=) c.2811G>T (p.Val937=) | |
| 19 | g.7132231C>G | CA505217550 | INSR | c.2769G>C (p.Val923=) c.2733G>C (p.Val911=) c.2847G>C (p.Val949=) c.2811G>C (p.Val937=) | |
| 19 | g.7132231C>T | CA505217551 | INSR | c.2769G>A (p.Val923=) c.2733G>A (p.Val911=) c.2847G>A (p.Val949=) c.2811G>A (p.Val937=) | |
| 19 | g.7132232A>C | CA403672049 | INSR | c.2768T>G (p.Val923Gly) c.2732T>G (p.Val911Gly) c.2846T>G (p.Val949Gly) c.2810T>G (p.Val937Gly) | |
| 19 | g.7132232A>G | CA403672050 | INSR | c.2768T>C (p.Val923Ala) c.2732T>C (p.Val911Ala) c.2846T>C (p.Val949Ala) c.2810T>C (p.Val937Ala) | |
| 19 | g.7132232A>T | CA403672051 | INSR | c.2768T>A (p.Val923Glu) c.2732T>A (p.Val911Glu) c.2846T>A (p.Val949Glu) c.2810T>A (p.Val937Glu) | |
| 19 | g.7132233C>A | CA403672052 | INSR | c.2767G>T (p.Val923Leu) c.2731G>T (p.Val911Leu) c.2845G>T (p.Val949Leu) c.2809G>T (p.Val937Leu) | gnomAD v4 |
| 19 | g.7132233C= | CA2320771077 | INSR | c.2767G= (p.Val923=) c.2731G= (p.Val911=) c.2845G= (p.Val949=) c.2809G= (p.Val937=) | |
| 19 | g.7132233C>G | CA403672053 | INSR | c.2767G>C (p.Val923Leu) c.2731G>C (p.Val911Leu) c.2845G>C (p.Val949Leu) c.2809G>C (p.Val937Leu) | dbSNP gnomAD v4 |
| 19 | g.7132233C>T | CA304878442 | INSR | c.2767G>A (p.Val923Met) c.2731G>A (p.Val911Met) c.2845G>A (p.Val949Met) c.2809G>A (p.Val937Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.7132234G>A | CA9135456 | INSR | c.2766C>T (p.Ser922=) c.2730C>T (p.Ser910=) c.2844C>T (p.Ser948=) c.2808C>T (p.Ser936=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7132234G>C | CA403672055 | INSR | c.2766C>G (p.Ser922Arg) c.2730C>G (p.Ser910Arg) c.2844C>G (p.Ser948Arg) c.2808C>G (p.Ser936Arg) | |
| 19 | g.7132234G= | CA2320771078 | INSR | c.2766C= (p.Ser922=) c.2730C= (p.Ser910=) c.2844C= (p.Ser948=) c.2808C= (p.Ser936=) | |
| 19 | g.7132234G>T | CA403672054 | INSR | c.2766C>A (p.Ser922Arg) c.2730C>A (p.Ser910Arg) c.2844C>A (p.Ser948Arg) c.2808C>A (p.Ser936Arg) | |
| 19 | g.7132235C>A | CA403672056 | INSR | c.2765G>T (p.Ser922Ile) c.2729G>T (p.Ser910Ile) c.2843G>T (p.Ser948Ile) c.2807G>T (p.Ser936Ile) | |
| 19 | g.7132235C>G | CA403672057 | INSR | c.2765G>C (p.Ser922Thr) c.2729G>C (p.Ser910Thr) c.2843G>C (p.Ser948Thr) c.2807G>C (p.Ser936Thr) | |
| 19 | g.7132235C>T | CA403672058 | INSR | c.2765G>A (p.Ser922Asn) c.2729G>A (p.Ser910Asn) c.2843G>A (p.Ser948Asn) c.2807G>A (p.Ser936Asn) | ClinVar |
| 19 | g.7132236T>A | CA403672059 | INSR | c.2764A>T (p.Ser922Cys) c.2728A>T (p.Ser910Cys) c.2842A>T (p.Ser948Cys) c.2806A>T (p.Ser936Cys) | |
| 19 | g.7132236T>C | CA403672060 | INSR | c.2764A>G (p.Ser922Gly) c.2728A>G (p.Ser910Gly) c.2842A>G (p.Ser948Gly) c.2806A>G (p.Ser936Gly) | |
| 19 | g.7132236T>G | CA403672061 | INSR | c.2764A>C (p.Ser922Arg) c.2728A>C (p.Ser910Arg) c.2842A>C (p.Ser948Arg) c.2806A>C (p.Ser936Arg) | |
| 19 | g.7132237G>A | CA505217558 | INSR | c.2763C>T (p.Tyr921=) c.2727C>T (p.Tyr909=) c.2841C>T (p.Tyr947=) c.2805C>T (p.Tyr935=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.7132237G>C | CA403672062 | INSR | c.2763C>G (p.Tyr921Ter) c.2727C>G (p.Tyr909Ter) c.2841C>G (p.Tyr947Ter) c.2805C>G (p.Tyr935Ter) | |
| 19 | g.7132237G= | CA2320771079 | INSR | c.2763C= (p.Tyr921=) c.2727C= (p.Tyr909=) c.2841C= (p.Tyr947=) c.2805C= (p.Tyr935=) | |
| 19 | g.7132237G>T | CA403672063 | INSR | c.2763C>A (p.Tyr921Ter) c.2727C>A (p.Tyr909Ter) c.2841C>A (p.Tyr947Ter) c.2805C>A (p.Tyr935Ter) | |
| 19 | g.7132238T>A | CA403672064 | INSR | c.2762A>T (p.Tyr921Phe) c.2726A>T (p.Tyr909Phe) c.2840A>T (p.Tyr947Phe) c.2804A>T (p.Tyr935Phe) | |
| 19 | g.7132238T>C | CA403672065 | INSR | c.2762A>G (p.Tyr921Cys) c.2726A>G (p.Tyr909Cys) c.2840A>G (p.Tyr947Cys) c.2804A>G (p.Tyr935Cys) | |
| 19 | g.7132238T>G | CA403672066 | INSR | c.2762A>C (p.Tyr921Ser) c.2726A>C (p.Tyr909Ser) c.2840A>C (p.Tyr947Ser) c.2804A>C (p.Tyr935Ser) | gnomAD v4 |
| 19 | g.7132239A= | CA2320771080 | INSR | c.2761T= (p.Tyr921=) c.2725T= (p.Tyr909=) c.2839T= (p.Tyr947=) c.2803T= (p.Tyr935=) | |
| 19 | g.7132239A>C | CA403672069 | INSR | c.2761T>G (p.Tyr921Asp) c.2725T>G (p.Tyr909Asp) c.2839T>G (p.Tyr947Asp) c.2803T>G (p.Tyr935Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7132239A>G | CA403672068 | INSR | c.2761T>C (p.Tyr921His) c.2725T>C (p.Tyr909His) c.2839T>C (p.Tyr947His) c.2803T>C (p.Tyr935His) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7132239A>T | CA403672067 | INSR | c.2761T>A (p.Tyr921Asn) c.2725T>A (p.Tyr909Asn) c.2839T>A (p.Tyr947Asn) c.2803T>A (p.Tyr935Asn) | |
| 19 | g.7132240G>A | CA9135457 | INSR | c.2760C>T (p.Asn920=) c.2724C>T (p.Asn908=) c.2838C>T (p.Asn946=) c.2802C>T (p.Asn934=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7132240G>C | CA403672070 | INSR | c.2760C>G (p.Asn920Lys) c.2724C>G (p.Asn908Lys) c.2838C>G (p.Asn946Lys) c.2802C>G (p.Asn934Lys) | |
| 19 | g.7132240G= | CA2320771081 | INSR | c.2760C= (p.Asn920=) c.2724C= (p.Asn908=) c.2838C= (p.Asn946=) c.2802C= (p.Asn934=) | |
| 19 | g.7132240G>T | CA403672071 | INSR | c.2760C>A (p.Asn920Lys) c.2724C>A (p.Asn908Lys) c.2838C>A (p.Asn946Lys) c.2802C>A (p.Asn934Lys) | |
| 19 | g.7132241T>A | CA403672072 | INSR | c.2759A>T (p.Asn920Ile) c.2723A>T (p.Asn908Ile) c.2837A>T (p.Asn946Ile) c.2801A>T (p.Asn934Ile) | |
| 19 | g.7132241T>C | CA403672073 | INSR | c.2759A>G (p.Asn920Ser) c.2723A>G (p.Asn908Ser) c.2837A>G (p.Asn946Ser) c.2801A>G (p.Asn934Ser) | |
| 19 | g.7132241T>G | CA403672074 | INSR | c.2759A>C (p.Asn920Thr) c.2723A>C (p.Asn908Thr) c.2837A>C (p.Asn946Thr) c.2801A>C (p.Asn934Thr) | |
| 19 | g.7132242T>A | CA403672075 | INSR | c.2758A>T (p.Asn920Tyr) c.2722A>T (p.Asn908Tyr) c.2836A>T (p.Asn946Tyr) c.2800A>T (p.Asn934Tyr) | |
| 19 | g.7132242T>C | CA403672076 | INSR | c.2758A>G (p.Asn920Asp) c.2722A>G (p.Asn908Asp) c.2836A>G (p.Asn946Asp) c.2800A>G (p.Asn934Asp) | |
| 19 | g.7132242T>G | CA403672077 | INSR | c.2758A>C (p.Asn920His) c.2722A>C (p.Asn908His) c.2836A>C (p.Asn946His) c.2800A>C (p.Asn934His) | |
| 19 | g.7132243C>A | CA505217571 | INSR | c.2757G>T (p.Gly919=) c.2721G>T (p.Gly907=) c.2835G>T (p.Gly945=) c.2799G>T (p.Gly933=) | gnomAD v4 |
| 19 | g.7132243C>G | CA505217572 | INSR | c.2757G>C (p.Gly919=) c.2721G>C (p.Gly907=) c.2835G>C (p.Gly945=) c.2799G>C (p.Gly933=) | |
| 19 | g.7132243C>T | CA505217573 | INSR | c.2757G>A (p.Gly919=) c.2721G>A (p.Gly907=) c.2835G>A (p.Gly945=) c.2799G>A (p.Gly933=) | gnomAD v4 |