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.7132156A>C | CA403671889 | INSR | c.2842+2T>G (n.2842+2T>G) c.2806+2T>G (n.2806+2T>G) c.2920+2T>G (n.2920+2T>G) c.2884+2T>G (n.2884+2T>G) | |
19 | g.7132156A>G | CA403671890 | INSR | c.2842+2T>C (n.2842+2T>C) c.2806+2T>C (n.2806+2T>C) c.2920+2T>C (n.2920+2T>C) c.2884+2T>C (n.2884+2T>C) | |
19 | g.7132156A>T | CA403671891 | INSR | c.2842+2T>A (n.2842+2T>A) c.2806+2T>A (n.2806+2T>A) c.2920+2T>A (n.2920+2T>A) c.2884+2T>A (n.2884+2T>A) | |
19 | g.7132157C>A | CA403671892 | INSR | c.2842+1G>T (n.2842+1G>T) c.2806+1G>T (n.2806+1G>T) c.2920+1G>T (n.2920+1G>T) c.2884+1G>T (n.2884+1G>T) | |
19 | g.7132157C>G | CA403671893 | INSR | c.2842+1G>C (n.2842+1G>C) c.2806+1G>C (n.2806+1G>C) c.2920+1G>C (n.2920+1G>C) c.2884+1G>C (n.2884+1G>C) | |
19 | g.7132157C>T | CA403671894 | INSR | c.2842+1G>A (n.2842+1G>A) c.2806+1G>A (n.2806+1G>A) c.2920+1G>A (n.2920+1G>A) c.2884+1G>A (n.2884+1G>A) | |
19 | g.7132158A>C | CA403671895 | INSR | c.2842T>G (p.Leu948Val) c.2806T>G (p.Leu936Val) c.2920T>G (p.Tyr974Asp) c.2884T>G (p.Tyr962Asp) c.2842T>G (p.Tyr948Asp) c.2806T>G (p.Tyr936Asp) | |
19 | g.7132158A>G | CA505217438 | INSR | c.2842T>C (p.Leu948=) c.2806T>C (p.Leu936=) c.2920T>C (p.Tyr974His) c.2884T>C (p.Tyr962His) c.2842T>C (p.Tyr948His) c.2806T>C (p.Tyr936His) | |
19 | g.7132158A>T | CA403671896 | INSR | c.2842T>A (p.Leu948Ile) c.2806T>A (p.Leu936Ile) c.2920T>A (p.Tyr974Asn) c.2884T>A (p.Tyr962Asn) c.2842T>A (p.Tyr948Asn) c.2806T>A (p.Tyr936Asn) | |
19 | g.7132159A>C | CA403671897 | INSR | c.2841T>G (p.Tyr947Ter) c.2805T>G (p.Tyr935Ter) c.2919T>G (p.Tyr973Ter) c.2883T>G (p.Tyr961Ter) | |
19 | g.7132159A>G | CA505217439 | INSR | c.2841T>C (p.Tyr947=) c.2805T>C (p.Tyr935=) c.2919T>C (p.Tyr973=) c.2883T>C (p.Tyr961=) | |
19 | g.7132159A>T | CA403671898 | INSR | c.2841T>A (p.Tyr947Ter) c.2805T>A (p.Tyr935Ter) c.2919T>A (p.Tyr973Ter) c.2883T>A (p.Tyr961Ter) | |
19 | g.7132160T>A | CA403671899 | INSR | c.2840A>T (p.Tyr947Phe) c.2804A>T (p.Tyr935Phe) c.2918A>T (p.Tyr973Phe) c.2882A>T (p.Tyr961Phe) | |
19 | g.7132160T>C | CA403671900 | INSR | c.2840A>G (p.Tyr947Cys) c.2804A>G (p.Tyr935Cys) c.2918A>G (p.Tyr973Cys) c.2882A>G (p.Tyr961Cys) | |
19 | g.7132160T>G | CA403671901 | INSR | c.2840A>C (p.Tyr947Ser) c.2804A>C (p.Tyr935Ser) c.2918A>C (p.Tyr973Ser) c.2882A>C (p.Tyr961Ser) | |
19 | g.7132161A>C | CA403671902 | INSR | c.2839T>G (p.Tyr947Asp) c.2803T>G (p.Tyr935Asp) c.2917T>G (p.Tyr973Asp) c.2881T>G (p.Tyr961Asp) | |
19 | g.7132161A>G | CA403671903 | INSR | c.2839T>C (p.Tyr947His) c.2803T>C (p.Tyr935His) c.2917T>C (p.Tyr973His) c.2881T>C (p.Tyr961His) | |
19 | g.7132161A>T | CA403671904 | INSR | c.2839T>A (p.Tyr947Asn) c.2803T>A (p.Tyr935Asn) c.2917T>A (p.Tyr973Asn) c.2881T>A (p.Tyr961Asn) | |
19 | g.7132162G>A | CA505217440 | INSR | c.2838C>T (p.Asp946=) c.2802C>T (p.Asp934=) c.2916C>T (p.Asp972=) c.2880C>T (p.Asp960=) | |
19 | g.7132162G>C | CA208959 | INSR | c.2838C>G (p.Asp946Glu) c.2802C>G (p.Asp934Glu) c.2916C>G (p.Asp972Glu) c.2880C>G (p.Asp960Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7132162G= | CA2320771049 | INSR | c.2838C= (p.Asp946=) c.2802C= (p.Asp934=) c.2916C= (p.Asp972=) c.2880C= (p.Asp960=) | |
19 | g.7132162G>T | CA403671905 | INSR | c.2838C>A (p.Asp946Glu) c.2802C>A (p.Asp934Glu) c.2916C>A (p.Asp972Glu) c.2880C>A (p.Asp960Glu) | |
19 | g.7132163T>A | CA403671906 | INSR | c.2837A>T (p.Asp946Val) c.2801A>T (p.Asp934Val) c.2915A>T (p.Asp972Val) c.2879A>T (p.Asp960Val) | gnomAD v4 |
19 | g.7132163T>C | CA403671907 | INSR | c.2837A>G (p.Asp946Gly) c.2801A>G (p.Asp934Gly) c.2915A>G (p.Asp972Gly) c.2879A>G (p.Asp960Gly) | |
19 | g.7132163T>G | CA403671908 | INSR | c.2837A>C (p.Asp946Ala) c.2801A>C (p.Asp934Ala) c.2915A>C (p.Asp972Ala) c.2879A>C (p.Asp960Ala) | |
19 | g.7132164C>A | CA403671910 | INSR | c.2836G>T (p.Asp946Tyr) c.2800G>T (p.Asp934Tyr) c.2914G>T (p.Asp972Tyr) c.2878G>T (p.Asp960Tyr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7132164C= | CA2320771050 | INSR | c.2836G= (p.Asp946=) c.2800G= (p.Asp934=) c.2914G= (p.Asp972=) c.2878G= (p.Asp960=) | |
19 | g.7132164C>G | CA403671911 | INSR | c.2836G>C (p.Asp946His) c.2800G>C (p.Asp934His) c.2914G>C (p.Asp972His) c.2878G>C (p.Asp960His) | |
19 | g.7132164C>T | CA403671909 | INSR | c.2836G>A (p.Asp946Asn) c.2800G>A (p.Asp934Asn) c.2914G>A (p.Asp972Asn) c.2878G>A (p.Asp960Asn) | COSMIC COSMIC |
19 | g.7132165T>A | CA505217441 | INSR | c.2835A>T (p.Thr945=) c.2799A>T (p.Thr933=) c.2913A>T (p.Thr971=) c.2877A>T (p.Thr959=) | |
19 | g.7132165T>C | CA505217442 | INSR | c.2835A>G (p.Thr945=) c.2799A>G (p.Thr933=) c.2913A>G (p.Thr971=) c.2877A>G (p.Thr959=) | |
19 | g.7132165T>G | CA505217443 | INSR | c.2835A>C (p.Thr945=) c.2799A>C (p.Thr933=) c.2913A>C (p.Thr971=) c.2877A>C (p.Thr959=) | |
19 | g.7132166G>A | CA403671912 | INSR | c.2834C>T (p.Thr945Ile) c.2798C>T (p.Thr933Ile) c.2912C>T (p.Thr971Ile) c.2876C>T (p.Thr959Ile) | gnomAD v4 |
19 | g.7132166G>C | CA403671913 | INSR | c.2834C>G (p.Thr945Arg) c.2798C>G (p.Thr933Arg) c.2912C>G (p.Thr971Arg) c.2876C>G (p.Thr959Arg) | |
19 | g.7132166G>T | CA403671914 | INSR | c.2834C>A (p.Thr945Lys) c.2798C>A (p.Thr933Lys) c.2912C>A (p.Thr971Lys) c.2876C>A (p.Thr959Lys) | |
19 | g.7132167T>A | CA403671915 | INSR | c.2833A>T (p.Thr945Ser) c.2797A>T (p.Thr933Ser) c.2911A>T (p.Thr971Ser) c.2875A>T (p.Thr959Ser) | gnomAD v4 |
19 | g.7132167T>C | CA403671916 | INSR | c.2833A>G (p.Thr945Ala) c.2797A>G (p.Thr933Ala) c.2911A>G (p.Thr971Ala) c.2875A>G (p.Thr959Ala) | gnomAD v4 |
19 | g.7132167T>G | CA403671917 | INSR | c.2833A>C (p.Thr945Pro) c.2797A>C (p.Thr933Pro) c.2911A>C (p.Thr971Pro) c.2875A>C (p.Thr959Pro) | |
19 | g.7132168C>A | CA505217445 | INSR | c.2832G>T (p.Val944=) c.2796G>T (p.Val932=) c.2910G>T (p.Val970=) c.2874G>T (p.Val958=) | gnomAD v4 |
19 | g.7132168C= | CA2320771051 | INSR | c.2832G= (p.Val944=) c.2796G= (p.Val932=) c.2910G= (p.Val970=) c.2874G= (p.Val958=) | |
19 | g.7132168C>G | CA505217444 | INSR | c.2832G>C (p.Val944=) c.2796G>C (p.Val932=) c.2910G>C (p.Val970=) c.2874G>C (p.Val958=) | dbSNP gnomAD v2 |
19 | g.7132168C>T | CA9135445 | INSR | c.2832G>A (p.Val944=) c.2796G>A (p.Val932=) c.2910G>A (p.Val970=) c.2874G>A (p.Val958=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7132169A>C | CA403671918 | INSR | c.2831T>G (p.Val944Gly) c.2795T>G (p.Val932Gly) c.2909T>G (p.Val970Gly) c.2873T>G (p.Val958Gly) | |
19 | g.7132169A>G | CA403671919 | INSR | c.2831T>C (p.Val944Ala) c.2795T>C (p.Val932Ala) c.2909T>C (p.Val970Ala) c.2873T>C (p.Val958Ala) | |
19 | g.7132169A>T | CA403671920 | INSR | c.2831T>A (p.Val944Glu) c.2795T>A (p.Val932Glu) c.2909T>A (p.Val970Glu) c.2873T>A (p.Val958Glu) | |
19 | g.7132170C>A | CA403671921 | INSR | c.2830G>T (p.Val944Leu) c.2794G>T (p.Val932Leu) c.2908G>T (p.Val970Leu) c.2872G>T (p.Val958Leu) | |
19 | g.7132170C= | CA2320771052 | INSR | c.2830G= (p.Val944=) c.2794G= (p.Val932=) c.2908G= (p.Val970=) c.2872G= (p.Val958=) | |
19 | g.7132170C>G | CA403671922 | INSR | c.2830G>C (p.Val944Leu) c.2794G>C (p.Val932Leu) c.2908G>C (p.Val970Leu) c.2872G>C (p.Val958Leu) | ClinVar |