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.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 |
19 | g.7132244C>A | CA403672078 | INSR | c.2756G>T (p.Gly919Val) c.2720G>T (p.Gly907Val) c.2834G>T (p.Gly945Val) c.2798G>T (p.Gly933Val) | |
19 | g.7132244C= | CA2320771082 | INSR | c.2756G= (p.Gly919=) c.2720G= (p.Gly907=) c.2834G= (p.Gly945=) c.2798G= (p.Gly933=) | |
19 | g.7132244C>G | CA403672079 | INSR | c.2756G>C (p.Gly919Ala) c.2720G>C (p.Gly907Ala) c.2834G>C (p.Gly945Ala) c.2798G>C (p.Gly933Ala) | |
19 | g.7132244C>T | CA304878454 | INSR | c.2756G>A (p.Gly919Glu) c.2720G>A (p.Gly907Glu) c.2834G>A (p.Gly945Glu) c.2798G>A (p.Gly933Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.7132245C>A | CA403672082 | INSR | c.2755G>T (p.Gly919Trp) c.2719G>T (p.Gly907Trp) c.2833G>T (p.Gly945Trp) c.2797G>T (p.Gly933Trp) | |
19 | g.7132245C>G | CA403672081 | INSR | c.2755G>C (p.Gly919Arg) c.2719G>C (p.Gly907Arg) c.2833G>C (p.Gly945Arg) c.2797G>C (p.Gly933Arg) | |
19 | g.7132245C>T | CA403672080 | INSR | c.2755G>A (p.Gly919Arg) c.2719G>A (p.Gly907Arg) c.2833G>A (p.Gly945Arg) c.2797G>A (p.Gly933Arg) | |
19 | g.7132246C>A | CA505217578 | INSR | c.2754G>T (p.Pro918=) c.2718G>T (p.Pro906=) c.2832G>T (p.Pro944=) c.2796G>T (p.Pro932=) | |
19 | g.7132246C= | CA2320771083 | INSR | c.2754G= (p.Pro918=) c.2718G= (p.Pro906=) c.2832G= (p.Pro944=) c.2796G= (p.Pro932=) | |
19 | g.7132246C>G | CA505217579 | INSR | c.2754G>C (p.Pro918=) c.2718G>C (p.Pro906=) c.2832G>C (p.Pro944=) c.2796G>C (p.Pro932=) | |
19 | g.7132246C>T | CA9135458 | INSR | c.2754G>A (p.Pro918=) c.2718G>A (p.Pro906=) c.2832G>A (p.Pro944=) c.2796G>A (p.Pro932=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.7132247G>A | CA9135459 | INSR | c.2753C>T (p.Pro918Leu) c.2717C>T (p.Pro906Leu) c.2831C>T (p.Pro944Leu) c.2795C>T (p.Pro932Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.7132247G>C | CA403672083 | INSR | c.2753C>G (p.Pro918Arg) c.2717C>G (p.Pro906Arg) c.2831C>G (p.Pro944Arg) c.2795C>G (p.Pro932Arg) | |
19 | g.7132247G= | CA2320771084 | INSR | c.2753C= (p.Pro918=) c.2717C= (p.Pro906=) c.2831C= (p.Pro944=) c.2795C= (p.Pro932=) | |
19 | g.7132247G>T | CA403672084 | INSR | c.2753C>A (p.Pro918Gln) c.2717C>A (p.Pro906Gln) c.2831C>A (p.Pro944Gln) c.2795C>A (p.Pro932Gln) | |
19 | g.7132247_7132248delinsCA | CA2695228091 | INSR | c.2752_2753delinsTG (p.Pro918Trp) c.2716_2717delinsTG (p.Pro906Trp) c.2830_2831delinsTG (p.Pro944Trp) c.2794_2795delinsTG (p.Pro932Trp) | |
19 | g.7132248G>A | CA9135460 | INSR | c.2752C>T (p.Pro918Ser) c.2716C>T (p.Pro906Ser) c.2830C>T (p.Pro944Ser) c.2794C>T (p.Pro932Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7132248G>C | CA403672085 | INSR | c.2752C>G (p.Pro918Ala) c.2716C>G (p.Pro906Ala) c.2830C>G (p.Pro944Ala) c.2794C>G (p.Pro932Ala) | |
19 | g.7132248G= | CA2320771085 | INSR | c.2752C= (p.Pro918=) c.2716C= (p.Pro906=) c.2830C= (p.Pro944=) c.2794C= (p.Pro932=) | |
19 | g.7132248G>T | CA403672086 | INSR | c.2752C>A (p.Pro918Thr) c.2716C>A (p.Pro906Thr) c.2830C>A (p.Pro944Thr) c.2794C>A (p.Pro932Thr) | |
19 | g.7132249T>A | CA505217587 | INSR | c.2751A>T (p.Ser917=) c.2715A>T (p.Ser905=) c.2829A>T (p.Ser943=) c.2793A>T (p.Ser931=) | |
19 | g.7132249T>C | CA505217589 | INSR | c.2751A>G (p.Ser917=) c.2715A>G (p.Ser905=) c.2829A>G (p.Ser943=) c.2793A>G (p.Ser931=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7132249T>G | CA505217588 | INSR | c.2751A>C (p.Ser917=) c.2715A>C (p.Ser905=) c.2829A>C (p.Ser943=) c.2793A>C (p.Ser931=) | |
19 | g.7132249T= | CA2320771086 | INSR | c.2751A= (p.Ser917=) c.2715A= (p.Ser905=) c.2829A= (p.Ser943=) c.2793A= (p.Ser931=) | |
19 | g.7132250G>A | CA403672087 | INSR | c.2750C>T (p.Ser917Leu) c.2714C>T (p.Ser905Leu) c.2828C>T (p.Ser943Leu) c.2792C>T (p.Ser931Leu) | |
19 | g.7132250G>C | CA403672088 | INSR | c.2750C>G (p.Ser917Ter) c.2714C>G (p.Ser905Ter) c.2828C>G (p.Ser943Ter) c.2792C>G (p.Ser931Ter) | |
19 | g.7132250G>T | CA403672089 | INSR | c.2750C>A (p.Ser917Ter) c.2714C>A (p.Ser905Ter) c.2828C>A (p.Ser943Ter) c.2792C>A (p.Ser931Ter) | |
19 | g.7132251A>C | CA403672090 | INSR | c.2749T>G (p.Ser917Ala) c.2713T>G (p.Ser905Ala) c.2827T>G (p.Ser943Ala) c.2791T>G (p.Ser931Ala) | |
19 | g.7132251A>G | CA403672091 | INSR | c.2749T>C (p.Ser917Pro) c.2713T>C (p.Ser905Pro) c.2827T>C (p.Ser943Pro) c.2791T>C (p.Ser931Pro) | |
19 | g.7132251A>T | CA403672092 | INSR | c.2749T>A (p.Ser917Thr) c.2713T>A (p.Ser905Thr) c.2827T>A (p.Ser943Thr) c.2791T>A (p.Ser931Thr) | |
19 | g.7132252C>A | CA505217597 | INSR | c.2748G>T (p.Leu916=) c.2712G>T (p.Leu904=) c.2826G>T (p.Leu942=) c.2790G>T (p.Leu930=) | |
19 | g.7132252C>G | CA505217598 | INSR | c.2748G>C (p.Leu916=) c.2712G>C (p.Leu904=) c.2826G>C (p.Leu942=) c.2790G>C (p.Leu930=) | |
19 | g.7132252C>T | CA505217599 | INSR | c.2748G>A (p.Leu916=) c.2712G>A (p.Leu904=) c.2826G>A (p.Leu942=) c.2790G>A (p.Leu930=) | |
19 | g.7132252dup | CA2840890620 | INSR | c.2748dup (p.Ser917ValfsTer?) c.2712dup (p.Ser905ValfsTer?) c.2826dup (p.Ser943ValfsTer?) c.2790dup (p.Ser931ValfsTer?) | |
19 | g.7132253A>C | CA403672094 | INSR | c.2747T>G (p.Leu916Arg) c.2711T>G (p.Leu904Arg) c.2825T>G (p.Leu942Arg) c.2789T>G (p.Leu930Arg) | |
19 | g.7132253A>G | CA403672095 | INSR | c.2747T>C (p.Leu916Pro) c.2711T>C (p.Leu904Pro) c.2825T>C (p.Leu942Pro) c.2789T>C (p.Leu930Pro) | |
19 | g.7132253A>T | CA403672093 | INSR | c.2747T>A (p.Leu916Gln) c.2711T>A (p.Leu904Gln) c.2825T>A (p.Leu942Gln) c.2789T>A (p.Leu930Gln) | |
19 | g.7132254G>A | CA505217605 | INSR | c.2746C>T (p.Leu916=) c.2710C>T (p.Leu904=) c.2824C>T (p.Leu942=) c.2788C>T (p.Leu930=) | dbSNP gnomAD v4 |
19 | g.7132254G>C | CA403672097 | INSR | c.2746C>G (p.Leu916Val) c.2710C>G (p.Leu904Val) c.2824C>G (p.Leu942Val) c.2788C>G (p.Leu930Val) | |
19 | g.7132254G= | CA2320771087 | INSR | c.2746C= (p.Leu916=) c.2710C= (p.Leu904=) c.2824C= (p.Leu942=) c.2788C= (p.Leu930=) | |
19 | g.7132254G>T | CA403672096 | INSR | c.2746C>A (p.Leu916Met) c.2710C>A (p.Leu904Met) c.2824C>A (p.Leu942Met) c.2788C>A (p.Leu930Met) | |
19 | g.7132255C>A | CA9135461 | INSR | c.2745G>T (p.Gly915=) c.2709G>T (p.Gly903=) c.2823G>T (p.Gly941=) c.2787G>T (p.Gly929=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7132255C= | CA2320771088 | INSR | c.2745G= (p.Gly915=) c.2709G= (p.Gly903=) c.2823G= (p.Gly941=) c.2787G= (p.Gly929=) | |
19 | g.7132255C>G | CA505217607 | INSR | c.2745G>C (p.Gly915=) c.2709G>C (p.Gly903=) c.2823G>C (p.Gly941=) c.2787G>C (p.Gly929=) | |
19 | g.7132255C>T | CA505217608 | INSR | c.2745G>A (p.Gly915=) c.2709G>A (p.Gly903=) c.2823G>A (p.Gly941=) c.2787G>A (p.Gly929=) | |
19 | g.7132256C>A | CA403672098 | INSR | c.2744G>T (p.Gly915Val) c.2708G>T (p.Gly903Val) c.2822G>T (p.Gly941Val) c.2786G>T (p.Gly929Val) | |
19 | g.7132256C= | CA2320771089 | INSR | c.2744G= (p.Gly915=) c.2708G= (p.Gly903=) c.2822G= (p.Gly941=) c.2786G= (p.Gly929=) | |
19 | g.7132256C>G | CA403672099 | INSR | c.2744G>C (p.Gly915Ala) c.2708G>C (p.Gly903Ala) c.2822G>C (p.Gly941Ala) c.2786G>C (p.Gly929Ala) | |
19 | g.7132256C>T | CA403672100 | INSR | c.2744G>A (p.Gly915Glu) c.2708G>A (p.Gly903Glu) c.2822G>A (p.Gly941Glu) c.2786G>A (p.Gly929Glu) | dbSNP gnomAD v4 |
19 | g.7132257C>A | CA403672101 | INSR | c.2743G>T (p.Gly915Trp) c.2707G>T (p.Gly903Trp) c.2821G>T (p.Gly941Trp) c.2785G>T (p.Gly929Trp) | |
19 | g.7132257C>G | CA403672102 | INSR | c.2743G>C (p.Gly915Arg) c.2707G>C (p.Gly903Arg) c.2821G>C (p.Gly941Arg) c.2785G>C (p.Gly929Arg) | |
19 | g.7132257C>T | CA403672103 | INSR | c.2743G>A (p.Gly915Arg) c.2707G>A (p.Gly903Arg) c.2821G>A (p.Gly941Arg) c.2785G>A (p.Gly929Arg) | gnomAD v4 COSMIC COSMIC |
19 | g.7132258A= | CA2320771090 | INSR | c.2742T= (p.Arg914=) c.2706T= (p.Arg902=) c.2820T= (p.Arg940=) c.2784T= (p.Arg928=) | |
19 | g.7132258A>C | CA505217613 | INSR | c.2742T>G (p.Arg914=) c.2706T>G (p.Arg902=) c.2820T>G (p.Arg940=) c.2784T>G (p.Arg928=) | |
19 | g.7132258A>G | CA505217610 | INSR | c.2742T>C (p.Arg914=) c.2706T>C (p.Arg902=) c.2820T>C (p.Arg940=) c.2784T>C (p.Arg928=) | |
19 | g.7132258A>T | CA9135462 | INSR | c.2742T>A (p.Arg914=) c.2706T>A (p.Arg902=) c.2820T>A (p.Arg940=) c.2784T>A (p.Arg928=) | dbSNP ExAC |
19 | g.7132259C>A | CA403672104 | INSR | c.2741G>T (p.Arg914Leu) c.2705G>T (p.Arg902Leu) c.2819G>T (p.Arg940Leu) c.2783G>T (p.Arg928Leu) | |
19 | g.7132259C= | CA2320771091 | INSR | c.2741G= (p.Arg914=) c.2705G= (p.Arg902=) c.2819G= (p.Arg940=) c.2783G= (p.Arg928=) | |
19 | g.7132259C>G | CA403672106 | INSR | c.2741G>C (p.Arg914Pro) c.2705G>C (p.Arg902Pro) c.2819G>C (p.Arg940Pro) c.2783G>C (p.Arg928Pro) | |
19 | g.7132259C>T | CA403672105 | INSR | c.2741G>A (p.Arg914His) c.2705G>A (p.Arg902His) c.2819G>A (p.Arg940His) c.2783G>A (p.Arg928His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7132260G>A | CA403672107 | INSR | c.2740C>T (p.Arg914Cys) c.2704C>T (p.Arg902Cys) c.2818C>T (p.Arg940Cys) c.2782C>T (p.Arg928Cys) | ClinVar dbSNP gnomAD v4 |
19 | g.7132260G>C | CA403672108 | INSR | c.2740C>G (p.Arg914Gly) c.2704C>G (p.Arg902Gly) c.2818C>G (p.Arg940Gly) c.2782C>G (p.Arg928Gly) | |
19 | g.7132260G= | CA2320771092 | INSR | c.2740C= (p.Arg914=) c.2704C= (p.Arg902=) c.2818C= (p.Arg940=) c.2782C= (p.Arg928=) | |
19 | g.7132260G>T | CA403672109 | INSR | c.2740C>A (p.Arg914Ser) c.2704C>A (p.Arg902Ser) c.2818C>A (p.Arg940Ser) c.2782C>A (p.Arg928Ser) | |
19 | g.7132261C>A | CA505217615 | INSR | c.2739G>T (p.Leu913=) c.2703G>T (p.Leu901=) c.2817G>T (p.Leu939=) c.2781G>T (p.Leu927=) | ClinVar dbSNP |
19 | g.7132261C= | CA2320771093 | INSR | c.2739G= (p.Leu913=) c.2703G= (p.Leu901=) c.2817G= (p.Leu939=) c.2781G= (p.Leu927=) | |
19 | g.7132261C>G | CA505217617 | INSR | c.2739G>C (p.Leu913=) c.2703G>C (p.Leu901=) c.2817G>C (p.Leu939=) c.2781G>C (p.Leu927=) | |
19 | g.7132261C>T | CA9135463 | INSR | c.2739G>A (p.Leu913=) c.2703G>A (p.Leu901=) c.2817G>A (p.Leu939=) c.2781G>A (p.Leu927=) | dbSNP ExAC gnomAD v4 |
19 | g.7132262A>C | CA403672110 | INSR | c.2738T>G (p.Leu913Arg) c.2702T>G (p.Leu901Arg) c.2816T>G (p.Leu939Arg) c.2780T>G (p.Leu927Arg) | |
19 | g.7132262A>G | CA403672112 | INSR | c.2738T>C (p.Leu913Pro) c.2702T>C (p.Leu901Pro) c.2816T>C (p.Leu939Pro) c.2780T>C (p.Leu927Pro) | gnomAD v4 |
19 | g.7132262A>T | CA403672111 | INSR | c.2738T>A (p.Leu913Gln) c.2702T>A (p.Leu901Gln) c.2816T>A (p.Leu939Gln) c.2780T>A (p.Leu927Gln) | |
19 | g.7132263G>A | CA505217624 | INSR | c.2737C>T (p.Leu913=) c.2701C>T (p.Leu901=) c.2815C>T (p.Leu939=) c.2779C>T (p.Leu927=) | |
19 | g.7132263G>C | CA403672113 | INSR | c.2737C>G (p.Leu913Val) c.2701C>G (p.Leu901Val) c.2815C>G (p.Leu939Val) c.2779C>G (p.Leu927Val) | gnomAD v4 |
19 | g.7132263G>T | CA403672114 | INSR | c.2737C>A (p.Leu913Met) c.2701C>A (p.Leu901Met) c.2815C>A (p.Leu939Met) c.2779C>A (p.Leu927Met) | |
19 | g.7132264C>A | CA403672115 | INSR | c.2736G>T (p.Arg912Ser) c.2700G>T (p.Arg900Ser) c.2814G>T (p.Arg938Ser) c.2778G>T (p.Arg926Ser) | |
19 | g.7132264C= | CA2320771094 | INSR | c.2736G= (p.Arg912=) c.2700G= (p.Arg900=) c.2814G= (p.Arg938=) c.2778G= (p.Arg926=) | |
19 | g.7132264C>G | CA403672116 | INSR | c.2736G>C (p.Arg912Ser) c.2700G>C (p.Arg900Ser) c.2814G>C (p.Arg938Ser) c.2778G>C (p.Arg926Ser) | |
19 | g.7132264C>T | CA207510 | INSR | c.2736G>A (p.Arg912=) c.2700G>A (p.Arg900=) c.2814G>A (p.Arg938=) c.2778G>A (p.Arg926=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7132265C>A | CA403672117 | INSR | c.2735G>T (p.Arg912Met) c.2699G>T (p.Arg900Met) c.2813G>T (p.Arg938Met) c.2777G>T (p.Arg926Met) | |
19 | g.7132265C>G | CA403672118 | INSR | c.2735G>C (p.Arg912Thr) c.2699G>C (p.Arg900Thr) c.2813G>C (p.Arg938Thr) c.2777G>C (p.Arg926Thr) | |
19 | g.7132265C>T | CA403672119 | INSR | c.2735G>A (p.Arg912Lys) c.2699G>A (p.Arg900Lys) c.2813G>A (p.Arg938Lys) c.2777G>A (p.Arg926Lys) | |
19 | g.7132266T>A | CA403672120 | INSR | c.2734A>T (p.Arg912Trp) c.2698A>T (p.Arg900Trp) c.2812A>T (p.Arg938Trp) c.2776A>T (p.Arg926Trp) | |
19 | g.7132266T>C | CA403672121 | INSR | c.2734A>G (p.Arg912Gly) c.2698A>G (p.Arg900Gly) c.2812A>G (p.Arg938Gly) c.2776A>G (p.Arg926Gly) | gnomAD v4 |
19 | g.7132266T>G | CA505217631 | INSR | c.2734A>C (p.Arg912=) c.2698A>C (p.Arg900=) c.2812A>C (p.Arg938=) c.2776A>C (p.Arg926=) | |
19 | g.7132267G>A | CA9135464 | INSR | c.2733C>T (p.Cys911=) c.2697C>T (p.Cys899=) c.2811C>T (p.Cys937=) c.2775C>T (p.Cys925=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7132267G>C | CA403672123 | INSR | c.2733C>G (p.Cys911Trp) c.2697C>G (p.Cys899Trp) c.2811C>G (p.Cys937Trp) c.2775C>G (p.Cys925Trp) | |
19 | g.7132267G= | CA2320771095 | INSR | c.2733C= (p.Cys911=) c.2697C= (p.Cys899=) c.2811C= (p.Cys937=) c.2775C= (p.Cys925=) | |
19 | g.7132267G>T | CA403672122 | INSR | c.2733C>A (p.Cys911Ter) c.2697C>A (p.Cys899Ter) c.2811C>A (p.Cys937Ter) c.2775C>A (p.Cys925Ter) | |
19 | g.7132268C>A | CA403672124 | INSR | c.2732G>T (p.Cys911Phe) c.2696G>T (p.Cys899Phe) c.2810G>T (p.Cys937Phe) c.2774G>T (p.Cys925Phe) | |
19 | g.7132268C>G | CA403672125 | INSR | c.2732G>C (p.Cys911Ser) c.2696G>C (p.Cys899Ser) c.2810G>C (p.Cys937Ser) c.2774G>C (p.Cys925Ser) | |
19 | g.7132268C>T | CA403672126 | INSR | c.2732G>A (p.Cys911Tyr) c.2696G>A (p.Cys899Tyr) c.2810G>A (p.Cys937Tyr) c.2774G>A (p.Cys925Tyr) | gnomAD v4 |
19 | g.7132269A>C | CA403672127 | INSR | c.2731T>G (p.Cys911Gly) c.2695T>G (p.Cys899Gly) c.2809T>G (p.Cys937Gly) c.2773T>G (p.Cys925Gly) | |
19 | g.7132269A>G | CA403672128 | INSR | c.2731T>C (p.Cys911Arg) c.2695T>C (p.Cys899Arg) c.2809T>C (p.Cys937Arg) c.2773T>C (p.Cys925Arg) | |
19 | g.7132269A>T | CA403672129 | INSR | c.2731T>A (p.Cys911Ser) c.2695T>A (p.Cys899Ser) c.2809T>A (p.Cys937Ser) c.2773T>A (p.Cys925Ser) | |
19 | g.7132270G>A | CA505217641 | INSR | c.2730C>T (p.Gly910=) c.2694C>T (p.Gly898=) c.2808C>T (p.Gly936=) c.2772C>T (p.Gly924=) | gnomAD v4 |
19 | g.7132270G>C | CA505217639 | INSR | c.2730C>G (p.Gly910=) c.2694C>G (p.Gly898=) c.2808C>G (p.Gly936=) c.2772C>G (p.Gly924=) | |
19 | g.7132270G>T | CA505217642 | INSR | c.2730C>A (p.Gly910=) c.2694C>A (p.Gly898=) c.2808C>A (p.Gly936=) c.2772C>A (p.Gly924=) | |
19 | g.7132271C>A | CA403672130 | INSR | c.2729G>T (p.Gly910Val) c.2693G>T (p.Gly898Val) c.2807G>T (p.Gly936Val) c.2771G>T (p.Gly924Val) | gnomAD v4 COSMIC |
19 | g.7132271C>G | CA403672131 | INSR | c.2729G>C (p.Gly910Ala) c.2693G>C (p.Gly898Ala) c.2807G>C (p.Gly936Ala) c.2771G>C (p.Gly924Ala) | |
19 | g.7132271C>T | CA403672132 | INSR | c.2729G>A (p.Gly910Asp) c.2693G>A (p.Gly898Asp) c.2807G>A (p.Gly936Asp) c.2771G>A (p.Gly924Asp) | |
19 | g.7132274dup | CA2840890621 | INSR | c.2729dup (p.Cys911LeufsTer?) c.2693dup (p.Cys899LeufsTer?) c.2807dup (p.Cys937LeufsTer?) c.2771dup (p.Cys925LeufsTer?) | |
19 | g.7132272C>A | CA403672133 | INSR | c.2728G>T (p.Gly910Cys) c.2692G>T (p.Gly898Cys) c.2806G>T (p.Gly936Cys) c.2770G>T (p.Gly924Cys) | |
19 | g.7132272C>G | CA403672134 | INSR | c.2728G>C (p.Gly910Arg) c.2692G>C (p.Gly898Arg) c.2806G>C (p.Gly936Arg) c.2770G>C (p.Gly924Arg) | |
19 | g.7132272C>T | CA403672135 | INSR | c.2728G>A (p.Gly910Ser) c.2692G>A (p.Gly898Ser) c.2806G>A (p.Gly936Ser) c.2770G>A (p.Gly924Ser) | |
19 | g.7132273C>A | CA505217646 | INSR | c.2727G>T (p.Arg909=) c.2691G>T (p.Arg897=) c.2805G>T (p.Arg935=) c.2769G>T (p.Arg923=) | |
19 | g.7132273C>G | CA505217647 | INSR | c.2727G>C (p.Arg909=) c.2691G>C (p.Arg897=) c.2805G>C (p.Arg935=) c.2769G>C (p.Arg923=) | |
19 | g.7132273C>T | CA505217648 | INSR | c.2727G>A (p.Arg909=) c.2691G>A (p.Arg897=) c.2805G>A (p.Arg935=) c.2769G>A (p.Arg923=) | |
19 | g.7132274C>A | CA403672137 | INSR | c.2726G>T (p.Arg909Leu) c.2690G>T (p.Arg897Leu) c.2804G>T (p.Arg935Leu) c.2768G>T (p.Arg923Leu) | |
19 | g.7132274C= | CA2320771096 | INSR | c.2726G= (p.Arg909=) c.2690G= (p.Arg897=) c.2804G= (p.Arg935=) c.2768G= (p.Arg923=) | |
19 | g.7132274C>G | CA403672136 | INSR | c.2726G>C (p.Arg909Pro) c.2690G>C (p.Arg897Pro) c.2804G>C (p.Arg935Pro) c.2768G>C (p.Arg923Pro) | |
19 | g.7132274C>T | CA9135465 | INSR | c.2726G>A (p.Arg909Gln) c.2690G>A (p.Arg897Gln) c.2804G>A (p.Arg935Gln) c.2768G>A (p.Arg923Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.7132275G>A | CA9135466 | INSR | c.2725C>T (p.Arg909Trp) c.2689C>T (p.Arg897Trp) c.2803C>T (p.Arg935Trp) c.2767C>T (p.Arg923Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7132275G>C | CA403672138 | INSR | c.2725C>G (p.Arg909Gly) c.2689C>G (p.Arg897Gly) c.2803C>G (p.Arg935Gly) c.2767C>G (p.Arg923Gly) | |
19 | g.7132275G= | CA2320771097 | INSR | c.2725C= (p.Arg909=) c.2689C= (p.Arg897=) c.2803C= (p.Arg935=) c.2767C= (p.Arg923=) | |
19 | g.7132275G>T | CA505217652 | INSR | c.2725C>A (p.Arg909=) c.2689C>A (p.Arg897=) c.2803C>A (p.Arg935=) c.2767C>A (p.Arg923=) | |
19 | g.7132276T>A | CA403672139 | INSR | c.2724A>T (p.Glu908Asp) c.2688A>T (p.Glu896Asp) c.2802A>T (p.Glu934Asp) c.2766A>T (p.Glu922Asp) | |
19 | g.7132276T>C | CA505217654 | INSR | c.2724A>G (p.Glu908=) c.2688A>G (p.Glu896=) c.2802A>G (p.Glu934=) c.2766A>G (p.Glu922=) | dbSNP |
19 | g.7132276T>G | CA403672140 | INSR | c.2724A>C (p.Glu908Asp) c.2688A>C (p.Glu896Asp) c.2802A>C (p.Glu934Asp) c.2766A>C (p.Glu922Asp) | |
19 | g.7132277T>A | CA403672141 | INSR | c.2723A>T (p.Glu908Val) c.2687A>T (p.Glu896Val) c.2801A>T (p.Glu934Val) c.2765A>T (p.Glu922Val) | |
19 | g.7132277T>C | CA403672142 | INSR | c.2723A>G (p.Glu908Gly) c.2687A>G (p.Glu896Gly) c.2801A>G (p.Glu934Gly) c.2765A>G (p.Glu922Gly) | |
19 | g.7132277T>G | CA403672143 | INSR | c.2723A>C (p.Glu908Ala) c.2687A>C (p.Glu896Ala) c.2801A>C (p.Glu934Ala) c.2765A>C (p.Glu922Ala) | |
19 | g.7132278C>A | CA403672144 | INSR | c.2722G>T (p.Glu908Ter) c.2686G>T (p.Glu896Ter) c.2800G>T (p.Glu934Ter) c.2764G>T (p.Glu922Ter) | |
19 | g.7132278C>G | CA403672145 | INSR | c.2722G>C (p.Glu908Gln) c.2686G>C (p.Glu896Gln) c.2800G>C (p.Glu934Gln) c.2764G>C (p.Glu922Gln) | |
19 | g.7132278C>T | CA403672146 | INSR | c.2722G>A (p.Glu908Lys) c.2686G>A (p.Glu896Lys) c.2800G>A (p.Glu934Lys) c.2764G>A (p.Glu922Lys) | |
19 | g.7132279C>A | CA505217657 | INSR | c.2721G>T (p.Leu907=) c.2685G>T (p.Leu895=) c.2799G>T (p.Leu933=) c.2763G>T (p.Leu921=) | |
19 | g.7132279C= | CA2320771098 | INSR | c.2721G= (p.Leu907=) c.2685G= (p.Leu895=) c.2799G= (p.Leu933=) c.2763G= (p.Leu921=) | |
19 | g.7132279C>G | CA505217658 | INSR | c.2721G>C (p.Leu907=) c.2685G>C (p.Leu895=) c.2799G>C (p.Leu933=) c.2763G>C (p.Leu921=) | |
19 | g.7132279C>T | CA304878486 | INSR | c.2721G>A (p.Leu907=) c.2685G>A (p.Leu895=) c.2799G>A (p.Leu933=) c.2763G>A (p.Leu921=) | dbSNP |
19 | g.7132280A>C | CA403672147 | INSR | c.2720T>G (p.Leu907Arg) c.2684T>G (p.Leu895Arg) c.2798T>G (p.Leu933Arg) c.2762T>G (p.Leu921Arg) | |
19 | g.7132280A>G | CA403672148 | INSR | c.2720T>C (p.Leu907Pro) c.2684T>C (p.Leu895Pro) c.2798T>C (p.Leu933Pro) c.2762T>C (p.Leu921Pro) | |
19 | g.7132280A>T | CA403672149 | INSR | c.2720T>A (p.Leu907Gln) c.2684T>A (p.Leu895Gln) c.2798T>A (p.Leu933Gln) c.2762T>A (p.Leu921Gln) | |
19 | g.7132281G>A | CA505217662 | INSR | c.2719C>T (p.Leu907=) c.2683C>T (p.Leu895=) c.2797C>T (p.Leu933=) c.2761C>T (p.Leu921=) | |
19 | g.7132281G>C | CA9135467 | INSR | c.2719C>G (p.Leu907Val) c.2683C>G (p.Leu895Val) c.2797C>G (p.Leu933Val) c.2761C>G (p.Leu921Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7132281G= | CA2320771099 | INSR | c.2719C= (p.Leu907=) c.2683C= (p.Leu895=) c.2797C= (p.Leu933=) c.2761C= (p.Leu921=) | |
19 | g.7132281G>T | CA403672150 | INSR | c.2719C>A (p.Leu907Met) c.2683C>A (p.Leu895Met) c.2797C>A (p.Leu933Met) c.2761C>A (p.Leu921Met) | |
19 | g.7132282A= | CA2320771100 | INSR | c.2718T= (p.Ala906=) c.2682T= (p.Ala894=) c.2796T= (p.Ala932=) c.2760T= (p.Ala920=) | |
19 | g.7132282A>C | CA505217665 | INSR | c.2718T>G (p.Ala906=) c.2682T>G (p.Ala894=) c.2796T>G (p.Ala932=) c.2760T>G (p.Ala920=) | |
19 | g.7132282A>G | CA9135468 | INSR | c.2718T>C (p.Ala906=) c.2682T>C (p.Ala894=) c.2796T>C (p.Ala932=) c.2760T>C (p.Ala920=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7132282A>T | CA505217663 | INSR | c.2718T>A (p.Ala906=) c.2682T>A (p.Ala894=) c.2796T>A (p.Ala932=) c.2760T>A (p.Ala920=) | COSMIC COSMIC |
19 | g.7132283G>A | CA403672153 | INSR | c.2717C>T (p.Ala906Val) c.2681C>T (p.Ala894Val) c.2795C>T (p.Ala932Val) c.2759C>T (p.Ala920Val) | |
19 | g.7132283G>C | CA403672151 | INSR | c.2717C>G (p.Ala906Gly) c.2681C>G (p.Ala894Gly) c.2795C>G (p.Ala932Gly) c.2759C>G (p.Ala920Gly) | |
19 | g.7132283G>T | CA403672152 | INSR | c.2717C>A (p.Ala906Asp) c.2681C>A (p.Ala894Asp) c.2795C>A (p.Ala932Asp) c.2759C>A (p.Ala920Asp) | |
19 | g.7132284C>A | CA403672154 | INSR | c.2716G>T (p.Ala906Ser) c.2680G>T (p.Ala894Ser) c.2794G>T (p.Ala932Ser) c.2758G>T (p.Ala920Ser) | gnomAD v4 |
19 | g.7132284C= | CA2320771101 | INSR | c.2716G= (p.Ala906=) c.2680G= (p.Ala894=) c.2794G= (p.Ala932=) c.2758G= (p.Ala920=) | |
19 | g.7132284C>G | CA403672155 | INSR | c.2716G>C (p.Ala906Pro) c.2680G>C (p.Ala894Pro) c.2794G>C (p.Ala932Pro) c.2758G>C (p.Ala920Pro) | dbSNP |
19 | g.7132284C>T | CA9135469 | INSR | c.2716G>A (p.Ala906Thr) c.2680G>A (p.Ala894Thr) c.2794G>A (p.Ala932Thr) c.2758G>A (p.Ala920Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7132285G>A | CA9135470 | INSR | c.2715C>T (p.Phe905=) c.2679C>T (p.Phe893=) c.2793C>T (p.Phe931=) c.2757C>T (p.Phe919=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7132285G>C | CA403672156 | INSR | c.2715C>G (p.Phe905Leu) c.2679C>G (p.Phe893Leu) c.2793C>G (p.Phe931Leu) c.2757C>G (p.Phe919Leu) | |
19 | g.7132285G= | CA2320771102 | INSR | c.2715C= (p.Phe905=) c.2679C= (p.Phe893=) c.2793C= (p.Phe931=) c.2757C= (p.Phe919=) | |
19 | g.7132285G>T | CA403672157 | INSR | c.2715C>A (p.Phe905Leu) c.2679C>A (p.Phe893Leu) c.2793C>A (p.Phe931Leu) c.2757C>A (p.Phe919Leu) | |
19 | g.7132286A>C | CA403672158 | INSR | c.2714T>G (p.Phe905Cys) c.2678T>G (p.Phe893Cys) c.2792T>G (p.Phe931Cys) c.2756T>G (p.Phe919Cys) | |
19 | g.7132286A>G | CA403672159 | INSR | c.2714T>C (p.Phe905Ser) c.2678T>C (p.Phe893Ser) c.2792T>C (p.Phe931Ser) c.2756T>C (p.Phe919Ser) | gnomAD v4 |
19 | g.7132286A>T | CA403672160 | INSR | c.2714T>A (p.Phe905Tyr) c.2678T>A (p.Phe893Tyr) c.2792T>A (p.Phe931Tyr) c.2756T>A (p.Phe919Tyr) | |
19 | g.7132287A>C | CA403672161 | INSR | c.2713T>G (p.Phe905Val) c.2677T>G (p.Phe893Val) c.2791T>G (p.Phe931Val) c.2755T>G (p.Phe919Val) | |
19 | g.7132287A>G | CA403672162 | INSR | c.2713T>C (p.Phe905Leu) c.2677T>C (p.Phe893Leu) c.2791T>C (p.Phe931Leu) c.2755T>C (p.Phe919Leu) | |
19 | g.7132287A>T | CA403672163 | INSR | c.2713T>A (p.Phe905Ile) c.2677T>A (p.Phe893Ile) c.2791T>A (p.Phe931Ile) c.2755T>A (p.Phe919Ile) | |
19 | g.7132288G>A | CA505217674 | INSR | c.2712C>T (p.His904=) c.2676C>T (p.His892=) c.2790C>T (p.His930=) c.2754C>T (p.His918=) | |
19 | g.7132288G>C | CA403672164 | INSR | c.2712C>G (p.His904Gln) c.2676C>G (p.His892Gln) c.2790C>G (p.His930Gln) c.2754C>G (p.His918Gln) | |
19 | g.7132288G>T | CA403672165 | INSR | c.2712C>A (p.His904Gln) c.2676C>A (p.His892Gln) c.2790C>A (p.His930Gln) c.2754C>A (p.His918Gln) | |
19 | g.7132289T>A | CA403672166 | INSR | c.2711A>T (p.His904Leu) c.2675A>T (p.His892Leu) c.2789A>T (p.His930Leu) c.2753A>T (p.His918Leu) | |
19 | g.7132289T>C | CA403672167 | INSR | c.2711A>G (p.His904Arg) c.2675A>G (p.His892Arg) c.2789A>G (p.His930Arg) c.2753A>G (p.His918Arg) | |
19 | g.7132289T>G | CA403672168 | INSR | c.2711A>C (p.His904Pro) c.2675A>C (p.His892Pro) c.2789A>C (p.His930Pro) c.2753A>C (p.His918Pro) | |
19 | g.7132290G>A | CA403672169 | INSR | c.2710C>T (p.His904Tyr) c.2674C>T (p.His892Tyr) c.2788C>T (p.His930Tyr) c.2752C>T (p.His918Tyr) | |
19 | g.7132290G>C | CA403672170 | INSR | c.2710C>G (p.His904Asp) c.2674C>G (p.His892Asp) c.2788C>G (p.His930Asp) c.2752C>G (p.His918Asp) | gnomAD v4 |
19 | g.7132290G>T | CA403672171 | INSR | c.2710C>A (p.His904Asn) c.2674C>A (p.His892Asn) c.2788C>A (p.His930Asn) c.2752C>A (p.His918Asn) | |
19 | g.7132291C>A | CA403672172 | INSR | c.2709G>T (p.Lys903Asn) c.2673G>T (p.Lys891Asn) c.2787G>T (p.Lys929Asn) c.2751G>T (p.Lys917Asn) | |
19 | g.7132291C= | CA2320771103 | INSR | c.2709G= (p.Lys903=) c.2673G= (p.Lys891=) c.2787G= (p.Lys929=) c.2751G= (p.Lys917=) | |
19 | g.7132291C>G | CA403672173 | INSR | c.2709G>C (p.Lys903Asn) c.2673G>C (p.Lys891Asn) c.2787G>C (p.Lys929Asn) c.2751G>C (p.Lys917Asn) | |
19 | g.7132291C>T | CA9135471 | INSR | c.2709G>A (p.Lys903=) c.2673G>A (p.Lys891=) c.2787G>A (p.Lys929=) c.2751G>A (p.Lys917=) | dbSNP ExAC gnomAD v4 |
19 | g.7132292T>A | CA403672174 | INSR | c.2708A>T (p.Lys903Met) c.2672A>T (p.Lys891Met) c.2786A>T (p.Lys929Met) c.2750A>T (p.Lys917Met) | |
19 | g.7132292T>C | CA403672175 | INSR | c.2708A>G (p.Lys903Arg) c.2672A>G (p.Lys891Arg) c.2786A>G (p.Lys929Arg) c.2750A>G (p.Lys917Arg) | |
19 | g.7132292T>G | CA403672176 | INSR | c.2708A>C (p.Lys903Thr) c.2672A>C (p.Lys891Thr) c.2786A>C (p.Lys929Thr) c.2750A>C (p.Lys917Thr) | |
19 | g.7132293T>A | CA403672179 | INSR | c.2707A>T (p.Lys903Ter) c.2671A>T (p.Lys891Ter) c.2785A>T (p.Lys929Ter) c.2749A>T (p.Lys917Ter) | |
19 | g.7132293T>C | CA403672178 | INSR | c.2707A>G (p.Lys903Glu) c.2671A>G (p.Lys891Glu) c.2785A>G (p.Lys929Glu) c.2749A>G (p.Lys917Glu) | |
19 | g.7132293T>G | CA403672177 | INSR | c.2707A>C (p.Lys903Gln) c.2671A>C (p.Lys891Gln) c.2785A>C (p.Lys929Gln) c.2749A>C (p.Lys917Gln) | |
19 | g.7132294G>A | CA505217678 | INSR | c.2706C>T (p.Arg902=) c.2670C>T (p.Arg890=) c.2784C>T (p.Arg928=) c.2748C>T (p.Arg916=) | gnomAD v4 |
19 | g.7132294G>C | CA505217680 | INSR | c.2706C>G (p.Arg902=) c.2670C>G (p.Arg890=) c.2784C>G (p.Arg928=) c.2748C>G (p.Arg916=) | |
19 | g.7132294G= | CA2320771104 | INSR | c.2706C= (p.Arg902=) c.2670C= (p.Arg890=) c.2784C= (p.Arg928=) c.2748C= (p.Arg916=) | |
19 | g.7132294G>T | CA505217679 | INSR | c.2706C>A (p.Arg902=) c.2670C>A (p.Arg890=) c.2784C>A (p.Arg928=) c.2748C>A (p.Arg916=) | dbSNP |
19 | g.7132295C>A | CA403672180 | INSR | c.2705G>T (p.Arg902Leu) c.2669G>T (p.Arg890Leu) c.2783G>T (p.Arg928Leu) c.2747G>T (p.Arg916Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7132295C= | CA2320771105 | INSR | c.2705G= (p.Arg902=) c.2669G= (p.Arg890=) c.2783G= (p.Arg928=) c.2747G= (p.Arg916=) | |
19 | g.7132295C>G | CA403672181 | INSR | c.2705G>C (p.Arg902Pro) c.2669G>C (p.Arg890Pro) c.2783G>C (p.Arg928Pro) c.2747G>C (p.Arg916Pro) | gnomAD v4 |
19 | g.7132295C>T | CA304878502 | INSR | c.2705G>A (p.Arg902His) c.2669G>A (p.Arg890His) c.2783G>A (p.Arg928His) c.2747G>A (p.Arg916His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7132296G>A | CA403672182 | INSR | c.2704C>T (p.Arg902Cys) c.2668C>T (p.Arg890Cys) c.2782C>T (p.Arg928Cys) c.2746C>T (p.Arg916Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.7132296G>C | CA403672183 | INSR | c.2704C>G (p.Arg902Gly) c.2668C>G (p.Arg890Gly) c.2782C>G (p.Arg928Gly) c.2746C>G (p.Arg916Gly) | |
19 | g.7132296G= | CA2320771106 | INSR | c.2704C= (p.Arg902=) c.2668C= (p.Arg890=) c.2782C= (p.Arg928=) c.2746C= (p.Arg916=) | |
19 | g.7132296G>T | CA403672184 | INSR | c.2704C>A (p.Arg902Ser) c.2668C>A (p.Arg890Ser) c.2782C>A (p.Arg928Ser) c.2746C>A (p.Arg916Ser) | |
19 | g.7132297G>A | CA505217681 | INSR | c.2703C>T (p.Ser901=) c.2667C>T (p.Ser889=) c.2781C>T (p.Ser927=) c.2745C>T (p.Ser915=) | |
19 | g.7132297G>C | CA505217683 | INSR | c.2703C>G (p.Ser901=) c.2667C>G (p.Ser889=) c.2781C>G (p.Ser927=) c.2745C>G (p.Ser915=) | |
19 | g.7132297G>T | CA505217682 | INSR | c.2703C>A (p.Ser901=) c.2667C>A (p.Ser889=) c.2781C>A (p.Ser927=) c.2745C>A (p.Ser915=) | |
19 | g.7132298G>A | CA403672187 | INSR | c.2702C>T (p.Ser901Phe) c.2666C>T (p.Ser889Phe) c.2780C>T (p.Ser927Phe) c.2744C>T (p.Ser915Phe) | |
19 | g.7132298G>C | CA403672186 | INSR | c.2702C>G (p.Ser901Cys) c.2666C>G (p.Ser889Cys) c.2780C>G (p.Ser927Cys) c.2744C>G (p.Ser915Cys) | |
19 | g.7132298G>T | CA403672185 | INSR | c.2702C>A (p.Ser901Tyr) c.2666C>A (p.Ser889Tyr) c.2780C>A (p.Ser927Tyr) c.2744C>A (p.Ser915Tyr) | gnomAD v4 |
19 | g.7132299A>C | CA403672188 | INSR | c.2701T>G (p.Ser901Ala) c.2665T>G (p.Ser889Ala) c.2779T>G (p.Ser927Ala) c.2743T>G (p.Ser915Ala) | |
19 | g.7132299A>G | CA403672189 | INSR | c.2701T>C (p.Ser901Pro) c.2665T>C (p.Ser889Pro) c.2779T>C (p.Ser927Pro) c.2743T>C (p.Ser915Pro) | |
19 | g.7132299A>T | CA403672190 | INSR | c.2701T>A (p.Ser901Thr) c.2665T>A (p.Ser889Thr) c.2779T>A (p.Ser927Thr) c.2743T>A (p.Ser915Thr) | |
19 | g.7132300G>A | CA505217686 | INSR | c.2700C>T (p.Val900=) c.2664C>T (p.Val888=) c.2778C>T (p.Val926=) c.2742C>T (p.Val914=) | COSMIC COSMIC |
19 | g.7132300G>C | CA505217685 | INSR | c.2700C>G (p.Val900=) c.2664C>G (p.Val888=) c.2778C>G (p.Val926=) c.2742C>G (p.Val914=) | |
19 | g.7132300G>T | CA505217684 | INSR | c.2700C>A (p.Val900=) c.2664C>A (p.Val888=) c.2778C>A (p.Val926=) c.2742C>A (p.Val914=) | |
19 | g.7132301A>C | CA403672191 | INSR | c.2699T>G (p.Val900Gly) c.2663T>G (p.Val888Gly) c.2777T>G (p.Val926Gly) c.2741T>G (p.Val914Gly) | |
19 | g.7132301A>G | CA403672192 | INSR | c.2699T>C (p.Val900Ala) c.2663T>C (p.Val888Ala) c.2777T>C (p.Val926Ala) c.2741T>C (p.Val914Ala) | |
19 | g.7132301A>T | CA403672193 | INSR | c.2699T>A (p.Val900Asp) c.2663T>A (p.Val888Asp) c.2777T>A (p.Val926Asp) c.2741T>A (p.Val914Asp) | |
19 | g.7132302C>A | CA403672194 | INSR | c.2698G>T (p.Val900Phe) c.2662G>T (p.Val888Phe) c.2776G>T (p.Val926Phe) c.2740G>T (p.Val914Phe) | dbSNP |
19 | g.7132302C= | CA2320771107 | INSR | c.2698G= (p.Val900=) c.2662G= (p.Val888=) c.2776G= (p.Val926=) c.2740G= (p.Val914=) | |
19 | g.7132302C>G | CA403672195 | INSR | c.2698G>C (p.Val900Leu) c.2662G>C (p.Val888Leu) c.2776G>C (p.Val926Leu) c.2740G>C (p.Val914Leu) | |
19 | g.7132302C>T | CA9135472 | INSR | c.2698G>A (p.Val900Ile) c.2662G>A (p.Val888Ile) c.2776G>A (p.Val926Ile) c.2740G>A (p.Val914Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7132303G>A | CA9135473 | INSR | c.2697C>T (p.Cys899=) c.2661C>T (p.Cys887=) c.2775C>T (p.Cys925=) c.2739C>T (p.Cys913=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7132303G>C | CA403672196 | INSR | c.2697C>G (p.Cys899Trp) c.2661C>G (p.Cys887Trp) c.2775C>G (p.Cys925Trp) c.2739C>G (p.Cys913Trp) | |
19 | g.7132303G= | CA2320771108 | INSR | c.2697C= (p.Cys899=) c.2661C= (p.Cys887=) c.2775C= (p.Cys925=) c.2739C= (p.Cys913=) | |
19 | g.7132303G>T | CA403672197 | INSR | c.2697C>A (p.Cys899Ter) c.2661C>A (p.Cys887Ter) c.2775C>A (p.Cys925Ter) c.2739C>A (p.Cys913Ter) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7132304C>A | CA403672198 | INSR | c.2696G>T (p.Cys899Phe) c.2660G>T (p.Cys887Phe) c.2774G>T (p.Cys925Phe) c.2738G>T (p.Cys913Phe) | |
19 | g.7132304C>G | CA403672199 | INSR | c.2696G>C (p.Cys899Ser) c.2660G>C (p.Cys887Ser) c.2774G>C (p.Cys925Ser) c.2738G>C (p.Cys913Ser) | |
19 | g.7132304C>T | CA403672200 | INSR | c.2696G>A (p.Cys899Tyr) c.2660G>A (p.Cys887Tyr) c.2774G>A (p.Cys925Tyr) c.2738G>A (p.Cys913Tyr) | COSMIC COSMIC |
19 | g.7132305A>C | CA403672201 | INSR | c.2695T>G (p.Cys899Gly) c.2659T>G (p.Cys887Gly) c.2773T>G (p.Cys925Gly) c.2737T>G (p.Cys913Gly) | |
19 | g.7132305A>G | CA403672202 | INSR | c.2695T>C (p.Cys899Arg) c.2659T>C (p.Cys887Arg) c.2773T>C (p.Cys925Arg) c.2737T>C (p.Cys913Arg) | |
19 | g.7132305A>T | CA403672203 | INSR | c.2695T>A (p.Cys899Ser) c.2659T>A (p.Cys887Ser) c.2773T>A (p.Cys925Ser) c.2737T>A (p.Cys913Ser) | |
19 | g.7132306G>A | CA505217689 | INSR | c.2694C>T (p.Leu898=) c.2658C>T (p.Leu886=) c.2772C>T (p.Leu924=) c.2736C>T (p.Leu912=) | |
19 | g.7132306G>C | CA505217687 | INSR | c.2694C>G (p.Leu898=) c.2658C>G (p.Leu886=) c.2772C>G (p.Leu924=) c.2736C>G (p.Leu912=) | |
19 | g.7132306G>T | CA505217688 | INSR | c.2694C>A (p.Leu898=) c.2658C>A (p.Leu886=) c.2772C>A (p.Leu924=) c.2736C>A (p.Leu912=) | |
19 | g.7132307A= | CA2320771109 | INSR | c.2693T= (p.Leu898=) c.2657T= (p.Leu886=) c.2771T= (p.Leu924=) c.2735T= (p.Leu912=) | |
19 | g.7132307A>C | CA403672204 | INSR | c.2693T>G (p.Leu898Arg) c.2657T>G (p.Leu886Arg) c.2771T>G (p.Leu924Arg) c.2735T>G (p.Leu912Arg) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7132307A>G | CA403672205 | INSR | c.2693T>C (p.Leu898Pro) c.2657T>C (p.Leu886Pro) c.2771T>C (p.Leu924Pro) c.2735T>C (p.Leu912Pro) | |
19 | g.7132307A>T | CA403672206 | INSR | c.2693T>A (p.Leu898His) c.2657T>A (p.Leu886His) c.2771T>A (p.Leu924His) c.2735T>A (p.Leu912His) | |
19 | g.7132308G>A | CA403672208 | INSR | c.2692C>T (p.Leu898Phe) c.2656C>T (p.Leu886Phe) c.2770C>T (p.Leu924Phe) c.2734C>T (p.Leu912Phe) | |
19 | g.7132308G>C | CA403672209 | INSR | c.2692C>G (p.Leu898Val) c.2656C>G (p.Leu886Val) c.2770C>G (p.Leu924Val) c.2734C>G (p.Leu912Val) | |
19 | g.7132308G>T | CA403672207 | INSR | c.2692C>A (p.Leu898Ile) c.2656C>A (p.Leu886Ile) c.2770C>A (p.Leu924Ile) c.2734C>A (p.Leu912Ile) | |
19 | g.7132309A>C | CA403672210 | INSR | c.2691T>G (p.His897Gln) c.2655T>G (p.His885Gln) c.2769T>G (p.His923Gln) c.2733T>G (p.His911Gln) | |
19 | g.7132309A>G | CA505217690 | INSR | c.2691T>C (p.His897=) c.2655T>C (p.His885=) c.2769T>C (p.His923=) c.2733T>C (p.His911=) | gnomAD v4 |
19 | g.7132309A>T | CA403672211 | INSR | c.2691T>A (p.His897Gln) c.2655T>A (p.His885Gln) c.2769T>A (p.His923Gln) c.2733T>A (p.His911Gln) | |
19 | g.7132310T>A | CA403672212 | INSR | c.2690A>T (p.His897Leu) c.2654A>T (p.His885Leu) c.2768A>T (p.His923Leu) c.2732A>T (p.His911Leu) | |
19 | g.7132310T>C | CA403672214 | INSR | c.2690A>G (p.His897Arg) c.2654A>G (p.His885Arg) c.2768A>G (p.His923Arg) c.2732A>G (p.His911Arg) | |
19 | g.7132310T>G | CA403672213 | INSR | c.2690A>C (p.His897Pro) c.2654A>C (p.His885Pro) c.2768A>C (p.His923Pro) c.2732A>C (p.His911Pro) | |
19 | g.7132311G>A | CA403672215 | INSR | c.2689C>T (p.His897Tyr) c.2653C>T (p.His885Tyr) c.2767C>T (p.His923Tyr) c.2731C>T (p.His911Tyr) | gnomAD v4 |
19 | g.7132311G>C | CA403672217 | INSR | c.2689C>G (p.His897Asp) c.2653C>G (p.His885Asp) c.2767C>G (p.His923Asp) c.2731C>G (p.His911Asp) | |
19 | g.7132311G>T | CA403672216 | INSR | c.2689C>A (p.His897Asn) c.2653C>A (p.His885Asn) c.2767C>A (p.His923Asn) c.2731C>A (p.His911Asn) | |
19 | g.7132312C>A | CA505217693 | INSR | c.2688G>T (p.Leu896=) c.2652G>T (p.Leu884=) c.2766G>T (p.Leu922=) c.2730G>T (p.Leu910=) | |
19 | g.7132312C>G | CA505217692 | INSR | c.2688G>C (p.Leu896=) c.2652G>C (p.Leu884=) c.2766G>C (p.Leu922=) c.2730G>C (p.Leu910=) | |
19 | g.7132312C>T | CA505217691 | INSR | c.2688G>A (p.Leu896=) c.2652G>A (p.Leu884=) c.2766G>A (p.Leu922=) c.2730G>A (p.Leu910=) | |
19 | g.7132313A>C | CA403672218 | INSR | c.2687T>G (p.Leu896Arg) c.2651T>G (p.Leu884Arg) c.2765T>G (p.Leu922Arg) c.2729T>G (p.Leu910Arg) | |
19 | g.7132313A>G | CA403672220 | INSR | c.2687T>C (p.Leu896Pro) c.2651T>C (p.Leu884Pro) c.2765T>C (p.Leu922Pro) c.2729T>C (p.Leu910Pro) | |
19 | g.7132313A>T | CA403672219 | INSR | c.2687T>A (p.Leu896Gln) c.2651T>A (p.Leu884Gln) c.2765T>A (p.Leu922Gln) c.2729T>A (p.Leu910Gln) | |
19 | g.7132314G>A | CA505217694 | INSR | c.2686C>T (p.Leu896=) c.2650C>T (p.Leu884=) c.2764C>T (p.Leu922=) c.2728C>T (p.Leu910=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7132314G>C | CA403672221 | INSR | c.2686C>G (p.Leu896Val) c.2650C>G (p.Leu884Val) c.2764C>G (p.Leu922Val) c.2728C>G (p.Leu910Val) | |
19 | g.7132314G= | CA2320771110 | INSR | c.2686C= (p.Leu896=) c.2650C= (p.Leu884=) c.2764C= (p.Leu922=) c.2728C= (p.Leu910=) | |
19 | g.7132314G>T | CA403672222 | INSR | c.2686C>A (p.Leu896Met) c.2650C>A (p.Leu884Met) c.2764C>A (p.Leu922Met) c.2728C>A (p.Leu910Met) | |
19 | g.7132315C>A | CA403672223 | INSR | c.2685G>T (p.Glu895Asp) c.2649G>T (p.Glu883Asp) c.2763G>T (p.Glu921Asp) c.2727G>T (p.Glu909Asp) | |
19 | g.7132315C= | CA2320771111 | INSR | c.2685G= (p.Glu895=) c.2649G= (p.Glu883=) c.2763G= (p.Glu921=) c.2727G= (p.Glu909=) | |
19 | g.7132315C>G | CA403672224 | INSR | c.2685G>C (p.Glu895Asp) c.2649G>C (p.Glu883Asp) c.2763G>C (p.Glu921Asp) c.2727G>C (p.Glu909Asp) | dbSNP |
19 | g.7132315C>T | CA505217695 | INSR | c.2685G>A (p.Glu895=) c.2649G>A (p.Glu883=) c.2763G>A (p.Glu921=) c.2727G>A (p.Glu909=) | |
19 | g.7132316T>A | CA403672225 | INSR | c.2684A>T (p.Glu895Val) c.2648A>T (p.Glu883Val) c.2762A>T (p.Glu921Val) c.2726A>T (p.Glu909Val) | |
19 | g.7132316T>C | CA403672226 | INSR | c.2684A>G (p.Glu895Gly) c.2648A>G (p.Glu883Gly) c.2762A>G (p.Glu921Gly) c.2726A>G (p.Glu909Gly) | |
19 | g.7132316T>G | CA403672227 | INSR | c.2684A>C (p.Glu895Ala) c.2648A>C (p.Glu883Ala) c.2762A>C (p.Glu921Ala) c.2726A>C (p.Glu909Ala) | |
19 | g.7132317C>A | CA403672228 | INSR | c.2683G>T (p.Glu895Ter) c.2647G>T (p.Glu883Ter) c.2761G>T (p.Glu921Ter) c.2725G>T (p.Glu909Ter) | |
19 | g.7132317C= | CA2320771112 | INSR | c.2683G= (p.Glu895=) c.2647G= (p.Glu883=) c.2761G= (p.Glu921=) c.2725G= (p.Glu909=) | |
19 | g.7132317C>G | CA403672229 | INSR | c.2683G>C (p.Glu895Gln) c.2647G>C (p.Glu883Gln) c.2761G>C (p.Glu921Gln) c.2725G>C (p.Glu909Gln) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7132317C>T | CA403672230 | INSR | c.2683G>A (p.Glu895Lys) c.2647G>A (p.Glu883Lys) c.2761G>A (p.Glu921Lys) c.2725G>A (p.Glu909Lys) | gnomAD v4 |
19 | g.7132318C>A | CA403672231 | INSR | c.2683-1G>T (n.2683-1G>T) c.2647-1G>T (n.2647-1G>T) c.2761-1G>T (n.2761-1G>T) c.2725-1G>T (n.2725-1G>T) | |
19 | g.7132318C>G | CA403672232 | INSR | c.2683-1G>C (n.2683-1G>C) c.2647-1G>C (n.2647-1G>C) c.2761-1G>C (n.2761-1G>C) c.2725-1G>C (n.2725-1G>C) | |
19 | g.7132318C>T | CA403672233 | INSR | c.2683-1G>A (n.2683-1G>A) c.2647-1G>A (n.2647-1G>A) c.2761-1G>A (n.2761-1G>A) c.2725-1G>A (n.2725-1G>A) | |
19 | g.7132319T>A | CA403672234 | INSR | c.2683-2A>T (n.2683-2A>T) c.2647-2A>T (n.2647-2A>T) c.2761-2A>T (n.2761-2A>T) c.2725-2A>T (n.2725-2A>T) | |
19 | g.7132319T>C | CA403672236 | INSR | c.2683-2A>G (n.2683-2A>G) c.2647-2A>G (n.2647-2A>G) c.2761-2A>G (n.2761-2A>G) c.2725-2A>G (n.2725-2A>G) | |
19 | g.7132319T>G | CA403672235 | INSR | c.2683-2A>C (n.2683-2A>C) c.2647-2A>C (n.2647-2A>C) c.2761-2A>C (n.2761-2A>C) c.2725-2A>C (n.2725-2A>C) | |
19 | g.7132321G>A | CA631723655 | INSR | c.2683-4C>T (n.2683-4C>T) c.2647-4C>T (n.2647-4C>T) c.2761-4C>T (n.2761-4C>T) c.2725-4C>T (n.2725-4C>T) | dbSNP gnomAD v2 |
19 | g.7132321G>C | CA884180079 | INSR | c.2683-4C>G (n.2683-4C>G) c.2647-4C>G (n.2647-4C>G) c.2761-4C>G (n.2761-4C>G) c.2725-4C>G (n.2725-4C>G) | dbSNP |
19 | g.7132321G= | CA2320771113 | INSR | c.2683-4C= (n.2683-4C=) c.2647-4C= (n.2647-4C=) c.2761-4C= (n.2761-4C=) c.2725-4C= (n.2725-4C=) | |
19 | g.7132322G>A | CA9135474 | INSR | c.2683-5C>T (n.2683-5C>T) c.2647-5C>T (n.2647-5C>T) c.2761-5C>T (n.2761-5C>T) c.2725-5C>T (n.2725-5C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7132322G= | CA2320771114 | INSR | c.2683-5C= (n.2683-5C=) c.2647-5C= (n.2647-5C=) c.2761-5C= (n.2761-5C=) c.2725-5C= (n.2725-5C=) | |
19 | g.7132322G>T | CA2840890622 | INSR | c.2683-5C>A (n.2683-5C>A) c.2647-5C>A (n.2647-5C>A) c.2761-5C>A (n.2761-5C>A) c.2725-5C>A (n.2725-5C>A) | |
19 | g.7132324G>A | CA9135475 | INSR | c.2683-7C>T (n.2683-7C>T) c.2647-7C>T (n.2647-7C>T) c.2761-7C>T (n.2761-7C>T) c.2725-7C>T (n.2725-7C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7132324G= | CA2320771115 | INSR | c.2683-7C= (n.2683-7C=) c.2647-7C= (n.2647-7C=) c.2761-7C= (n.2761-7C=) c.2725-7C= (n.2725-7C=) | |
19 | g.7132327A>G | CA2838201289 | INSR | c.2683-10T>C (n.2683-10T>C) c.2647-10T>C (n.2647-10T>C) c.2761-10T>C (n.2761-10T>C) c.2725-10T>C (n.2725-10T>C) | |
19 | g.7132329_7132332delinsAGAG | CA2320771116 | INSR | c.2683-15_2683-12delinsCTCT (n.2683-15_2683-12delinsCTCT) c.2647-15_2647-12delinsCTCT (n.2647-15_2647-12delinsCTCT) c.2761-15_2761-12delinsCTCT (n.2761-15_2761-12delinsCTCT) c.2725-15_2725-12delinsCTCT (n.2725-15_2725-12delinsCTCT) | |
19 | g.7132330G>A | CA2587922751 | INSR | c.2683-13C>T (n.2683-13C>T) c.2647-13C>T (n.2647-13C>T) c.2761-13C>T (n.2761-13C>T) c.2725-13C>T (n.2725-13C>T) | gnomAD v4 |
19 | g.7132336_7132338del | CA631723656 | INSR | c.2683-15_2683-13del (n.2683-15_2683-13del) c.2647-15_2647-13del (n.2647-15_2647-13del) c.2761-15_2761-13del (n.2761-15_2761-13del) c.2725-15_2725-13del (n.2725-15_2725-13del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7132331dup | CA2840890623 | INSR | c.2683-14dup (n.2683-14dup) c.2647-14dup (n.2647-14dup) c.2761-14dup (n.2761-14dup) c.2725-14dup (n.2725-14dup) | |
19 | g.7132332G>A | CA2576595107 | INSR | c.2683-15C>T (n.2683-15C>T) c.2647-15C>T (n.2647-15C>T) c.2761-15C>T (n.2761-15C>T) c.2725-15C>T (n.2725-15C>T) | |
19 | g.7132332G>T | CA2840890624 | INSR | c.2683-15C>A (n.2683-15C>A) c.2647-15C>A (n.2647-15C>A) c.2761-15C>A (n.2761-15C>A) c.2725-15C>A (n.2725-15C>A) | |
19 | g.7132333G>A | CA2587922753 | INSR | c.2683-16C>T (n.2683-16C>T) c.2647-16C>T (n.2647-16C>T) c.2761-16C>T (n.2761-16C>T) c.2725-16C>T (n.2725-16C>T) | gnomAD v4 |