Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.71392681C>ACA413525094TAF1c.2180C>A (p.Ser727Tyr)
c.2894C>A (p.Ser965Tyr)
c.2475C>A
c.2831C>A (p.Ser944Tyr)
c.2954C>A (p.Ser985Tyr)
c.2891C>A (p.Ser964Tyr)
n.3030C>A
c.2573C>A (p.Ser858Tyr)
n.2964C>A
n.2912C>A
Xg.71392681C=CA2436448106TAF1c.2180C= (p.Ser727=)
c.2894C= (p.Ser965=)
c.2475C=
c.2831C= (p.Ser944=)
c.2954C= (p.Ser985=)
c.2891C= (p.Ser964=)
n.3030C=
c.2573C= (p.Ser858=)
n.2964C=
n.2912C=
Xg.71392681C>GCA413525091TAF1c.2180C>G (p.Ser727Cys)
c.2894C>G (p.Ser965Cys)
c.2475C>G
c.2831C>G (p.Ser944Cys)
c.2954C>G (p.Ser985Cys)
c.2891C>G (p.Ser964Cys)
n.3030C>G
c.2573C>G (p.Ser858Cys)
n.2964C>G
n.2912C>G
gnomAD v4
Xg.71392681C>TCA16043305TAF1c.2180C>T (p.Ser727Phe)
c.2894C>T (p.Ser965Phe)
c.2475C>T
c.2831C>T (p.Ser944Phe)
c.2954C>T (p.Ser985Phe)
c.2891C>T (p.Ser964Phe)
n.3030C>T
c.2573C>T (p.Ser858Phe)
n.2964C>T
n.2912C>T
ClinVar dbSNP
Xg.71392682C>ACA516728028TAF1c.2181C>A (p.Ser727=)
c.2895C>A (p.Ser965=)
c.2476C>A
c.2832C>A (p.Ser944=)
c.2955C>A (p.Ser985=)
c.2892C>A (p.Ser964=)
n.3031C>A
c.2574C>A (p.Ser858=)
n.2965C>A
n.2913C>A
Xg.71392682C=CA2436448107TAF1c.2181C= (p.Ser727=)
c.2895C= (p.Ser965=)
c.2476C=
c.2832C= (p.Ser944=)
c.2955C= (p.Ser985=)
c.2892C= (p.Ser964=)
n.3031C=
c.2574C= (p.Ser858=)
n.2965C=
n.2913C=
Xg.71392682C>GCA516728029TAF1c.2181C>G (p.Ser727=)
c.2895C>G (p.Ser965=)
c.2476C>G
c.2832C>G (p.Ser944=)
c.2955C>G (p.Ser985=)
c.2892C>G (p.Ser964=)
n.3031C>G
c.2574C>G (p.Ser858=)
n.2965C>G
n.2913C>G
gnomAD v4
Xg.71392682C>TCA516728027TAF1c.2181C>T (p.Ser727=)
c.2895C>T (p.Ser965=)
c.2476C>T
c.2832C>T (p.Ser944=)
c.2955C>T (p.Ser985=)
c.2892C>T (p.Ser964=)
n.3031C>T
c.2574C>T (p.Ser858=)
n.2965C>T
n.2913C>T
ClinVar dbSNP gnomAD v4
Xg.71392683T>ACA413525102TAF1c.2182T>A (p.Tyr728Asn)
c.2896T>A (p.Tyr966Asn)
c.2477T>A
c.2833T>A (p.Tyr945Asn)
c.2956T>A (p.Tyr986Asn)
c.2893T>A (p.Tyr965Asn)
n.3032T>A
c.2575T>A (p.Tyr859Asn)
n.2966T>A
n.2914T>A
Xg.71392683T>CCA10446948TAF1c.2182T>C (p.Tyr728His)
c.2896T>C (p.Tyr966His)
c.2477T>C
c.2833T>C (p.Tyr945His)
c.2956T>C (p.Tyr986His)
c.2893T>C (p.Tyr965His)
n.3032T>C
c.2575T>C (p.Tyr859His)
n.2966T>C
n.2914T>C
dbSNP ExAC gnomAD v2
Xg.71392683T>GCA413525109TAF1c.2182T>G (p.Tyr728Asp)
c.2896T>G (p.Tyr966Asp)
c.2477T>G
c.2833T>G (p.Tyr945Asp)
c.2956T>G (p.Tyr986Asp)
c.2893T>G (p.Tyr965Asp)
n.3032T>G
c.2575T>G (p.Tyr859Asp)
n.2966T>G
n.2914T>G
Xg.71392683T=CA2436448108TAF1c.2182T= (p.Tyr728=)
c.2896T= (p.Tyr966=)
c.2477T=
c.2833T= (p.Tyr945=)
c.2956T= (p.Tyr986=)
c.2893T= (p.Tyr965=)
n.3032T=
c.2575T= (p.Tyr859=)
n.2966T=
n.2914T=
Xg.71392684A>CCA413525118TAF1c.2183A>C (p.Tyr728Ser)
c.2897A>C (p.Tyr966Ser)
c.2478A>C
c.2834A>C (p.Tyr945Ser)
c.2957A>C (p.Tyr986Ser)
c.2894A>C (p.Tyr965Ser)
n.3033A>C
c.2576A>C (p.Tyr859Ser)
n.2967A>C
n.2915A>C
dbSNP
Xg.71392684A>GCA413525123TAF1c.2183A>G (p.Tyr728Cys)
c.2897A>G (p.Tyr966Cys)
c.2478A>G
c.2834A>G (p.Tyr945Cys)
c.2957A>G (p.Tyr986Cys)
c.2894A>G (p.Tyr965Cys)
n.3033A>G
c.2576A>G (p.Tyr859Cys)
n.2967A>G
n.2915A>G
Xg.71392684A>TCA413525127TAF1c.2183A>T (p.Tyr728Phe)
c.2897A>T (p.Tyr966Phe)
c.2478A>T
c.2834A>T (p.Tyr945Phe)
c.2957A>T (p.Tyr986Phe)
c.2894A>T (p.Tyr965Phe)
n.3033A>T
c.2576A>T (p.Tyr859Phe)
n.2967A>T
n.2915A>T
Xg.71392685T>ACA413525131TAF1c.2184T>A (p.Tyr728Ter)
c.2898T>A (p.Tyr966Ter)
c.2479T>A
c.2835T>A (p.Tyr945Ter)
c.2958T>A (p.Tyr986Ter)
c.2895T>A (p.Tyr965Ter)
n.3034T>A
c.2577T>A (p.Tyr859Ter)
n.2968T>A
n.2916T>A
Xg.71392685T>CCA516728036TAF1c.2184T>C (p.Tyr728=)
c.2898T>C (p.Tyr966=)
c.2479T>C
c.2835T>C (p.Tyr945=)
c.2958T>C (p.Tyr986=)
c.2895T>C (p.Tyr965=)
n.3034T>C
c.2577T>C (p.Tyr859=)
n.2968T>C
n.2916T>C
Xg.71392685T>GCA413525140TAF1c.2184T>G (p.Tyr728Ter)
c.2898T>G (p.Tyr966Ter)
c.2479T>G
c.2835T>G (p.Tyr945Ter)
c.2958T>G (p.Tyr986Ter)
c.2895T>G (p.Tyr965Ter)
n.3034T>G
c.2577T>G (p.Tyr859Ter)
n.2968T>G
n.2916T>G
Xg.71392686G>ACA413525150TAF1c.2185G>A (p.Val729Met)
c.2899G>A (p.Val967Met)
c.2480G>A
c.2836G>A (p.Val946Met)
c.2959G>A (p.Val987Met)
c.2896G>A (p.Val966Met)
n.3035G>A
c.2578G>A (p.Val860Met)
n.2969G>A
n.2917G>A
gnomAD v4
Xg.71392686G>CCA413525153TAF1c.2185G>C (p.Val729Leu)
c.2899G>C (p.Val967Leu)
c.2480G>C
c.2836G>C (p.Val946Leu)
c.2959G>C (p.Val987Leu)
c.2896G>C (p.Val966Leu)
n.3035G>C
c.2578G>C (p.Val860Leu)
n.2969G>C
n.2917G>C
Xg.71392686G>TCA413525156TAF1c.2185G>T (p.Val729Leu)
c.2899G>T (p.Val967Leu)
c.2480G>T
c.2836G>T (p.Val946Leu)
c.2959G>T (p.Val987Leu)
c.2896G>T (p.Val966Leu)
n.3035G>T
c.2578G>T (p.Val860Leu)
n.2969G>T
n.2917G>T
Xg.71392687T>ACA413525160TAF1c.2186T>A (p.Val729Glu)
c.2900T>A (p.Val967Glu)
c.2481T>A
c.2837T>A (p.Val946Glu)
c.2960T>A (p.Val987Glu)
c.2897T>A (p.Val966Glu)
n.3036T>A
c.2579T>A (p.Val860Glu)
n.2970T>A
n.2918T>A
Xg.71392687T>CCA413525161TAF1c.2186T>C (p.Val729Ala)
c.2900T>C (p.Val967Ala)
c.2481T>C
c.2837T>C (p.Val946Ala)
c.2960T>C (p.Val987Ala)
c.2897T>C (p.Val966Ala)
n.3036T>C
c.2579T>C (p.Val860Ala)
n.2970T>C
n.2918T>C
Xg.71392687T>GCA413525162TAF1c.2186T>G (p.Val729Gly)
c.2900T>G (p.Val967Gly)
c.2481T>G
c.2837T>G (p.Val946Gly)
c.2960T>G (p.Val987Gly)
c.2897T>G (p.Val966Gly)
n.3036T>G
c.2579T>G (p.Val860Gly)
n.2970T>G
n.2918T>G
Xg.71392688G>ACA516728042TAF1c.2187G>A (p.Val729=)
c.2901G>A (p.Val967=)
c.2482G>A
c.2838G>A (p.Val946=)
c.2961G>A (p.Val987=)
c.2898G>A (p.Val966=)
n.3037G>A
c.2580G>A (p.Val860=)
n.2971G>A
n.2919G>A
Xg.71392688G>CCA516728043TAF1c.2187G>C (p.Val729=)
c.2901G>C (p.Val967=)
c.2482G>C
c.2838G>C (p.Val946=)
c.2961G>C (p.Val987=)
c.2898G>C (p.Val966=)
n.3037G>C
c.2580G>C (p.Val860=)
n.2971G>C
n.2919G>C
Xg.71392688G>TCA516728044TAF1c.2187G>T (p.Val729=)
c.2901G>T (p.Val967=)
c.2482G>T
c.2838G>T (p.Val946=)
c.2961G>T (p.Val987=)
c.2898G>T (p.Val966=)
n.3037G>T
c.2580G>T (p.Val860=)
n.2971G>T
n.2919G>T
Xg.71392689A>CCA413525167TAF1c.2188A>C (p.Lys730Gln)
c.2902A>C (p.Lys968Gln)
c.2483A>C
c.2839A>C (p.Lys947Gln)
c.2962A>C (p.Lys988Gln)
c.2899A>C (p.Lys967Gln)
n.3038A>C
c.2581A>C (p.Lys861Gln)
n.2972A>C
n.2920A>C
Xg.71392689A>GCA413525165TAF1c.2188A>G (p.Lys730Glu)
c.2902A>G (p.Lys968Glu)
c.2483A>G
c.2839A>G (p.Lys947Glu)
c.2962A>G (p.Lys988Glu)
c.2899A>G (p.Lys967Glu)
n.3038A>G
c.2581A>G (p.Lys861Glu)
n.2972A>G
n.2920A>G
COSMIC COSMIC
Xg.71392689A>TCA413525163TAF1c.2188A>T (p.Lys730Ter)
c.2902A>T (p.Lys968Ter)
c.2483A>T
c.2839A>T (p.Lys947Ter)
c.2962A>T (p.Lys988Ter)
c.2899A>T (p.Lys967Ter)
n.3038A>T
c.2581A>T (p.Lys861Ter)
n.2972A>T
n.2920A>T
Xg.71392690A>CCA413525176TAF1c.2189A>C (p.Lys730Thr)
c.2903A>C (p.Lys968Thr)
c.2484A>C
c.2840A>C (p.Lys947Thr)
c.2963A>C (p.Lys988Thr)
c.2900A>C (p.Lys967Thr)
n.3039A>C
c.2582A>C (p.Lys861Thr)
n.2973A>C
n.2921A>C
Xg.71392690A>GCA413525181TAF1c.2189A>G (p.Lys730Arg)
c.2903A>G (p.Lys968Arg)
c.2484A>G
c.2840A>G (p.Lys947Arg)
c.2963A>G (p.Lys988Arg)
c.2900A>G (p.Lys967Arg)
n.3039A>G
c.2582A>G (p.Lys861Arg)
n.2973A>G
n.2921A>G
Xg.71392690A>TCA413525184TAF1c.2189A>T (p.Lys730Met)
c.2903A>T (p.Lys968Met)
c.2484A>T
c.2840A>T (p.Lys947Met)
c.2963A>T (p.Lys988Met)
c.2900A>T (p.Lys967Met)
n.3039A>T
c.2582A>T (p.Lys861Met)
n.2973A>T
n.2921A>T
Xg.71392691G>ACA516728051TAF1c.2190G>A (p.Lys730=)
c.2904G>A (p.Lys968=)
c.2485G>A
c.2841G>A (p.Lys947=)
c.2964G>A (p.Lys988=)
c.2901G>A (p.Lys967=)
n.3040G>A
c.2583G>A (p.Lys861=)
n.2974G>A
n.2922G>A
Xg.71392691G>CCA413525185TAF1c.2190G>C (p.Lys730Asn)
c.2904G>C (p.Lys968Asn)
c.2485G>C
c.2841G>C (p.Lys947Asn)
c.2964G>C (p.Lys988Asn)
c.2901G>C (p.Lys967Asn)
n.3040G>C
c.2583G>C (p.Lys861Asn)
n.2974G>C
n.2922G>C
Xg.71392691G>TCA413525186TAF1c.2190G>T (p.Lys730Asn)
c.2904G>T (p.Lys968Asn)
c.2485G>T
c.2841G>T (p.Lys947Asn)
c.2964G>T (p.Lys988Asn)
c.2901G>T (p.Lys967Asn)
n.3040G>T
c.2583G>T (p.Lys861Asn)
n.2974G>T
n.2922G>T
Xg.71392692A=CA2436448109TAF1c.2191A= (p.Ile731=)
c.2905A= (p.Ile969=)
c.2486A=
c.2842A= (p.Ile948=)
c.2965A= (p.Ile989=)
c.2902A= (p.Ile968=)
n.3041A=
c.2584A= (p.Ile862=)
n.2975A=
n.2923A=
Xg.71392692A>CCA413525187TAF1c.2191A>C (p.Ile731Leu)
c.2905A>C (p.Ile969Leu)
c.2486A>C
c.2842A>C (p.Ile948Leu)
c.2965A>C (p.Ile989Leu)
c.2902A>C (p.Ile968Leu)
n.3041A>C
c.2584A>C (p.Ile862Leu)
n.2975A>C
n.2923A>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.71392692A>GCA413525189TAF1c.2191A>G (p.Ile731Val)
c.2905A>G (p.Ile969Val)
c.2486A>G
c.2842A>G (p.Ile948Val)
c.2965A>G (p.Ile989Val)
c.2902A>G (p.Ile968Val)
n.3041A>G
c.2584A>G (p.Ile862Val)
n.2975A>G
n.2923A>G
Xg.71392692A>TCA413525191TAF1c.2191A>T (p.Ile731Phe)
c.2905A>T (p.Ile969Phe)
c.2486A>T
c.2842A>T (p.Ile948Phe)
c.2965A>T (p.Ile989Phe)
c.2902A>T (p.Ile968Phe)
n.3041A>T
c.2584A>T (p.Ile862Phe)
n.2975A>T
n.2923A>T
Xg.71392693T>ACA413525194TAF1c.2192T>A (p.Ile731Asn)
c.2906T>A (p.Ile969Asn)
c.2487T>A
c.2843T>A (p.Ile948Asn)
c.2966T>A (p.Ile989Asn)
c.2903T>A (p.Ile968Asn)
n.3042T>A
c.2585T>A (p.Ile862Asn)
n.2976T>A
n.2924T>A
Xg.71392693T>CCA413525195TAF1c.2192T>C (p.Ile731Thr)
c.2906T>C (p.Ile969Thr)
c.2487T>C
c.2843T>C (p.Ile948Thr)
c.2966T>C (p.Ile989Thr)
c.2903T>C (p.Ile968Thr)
n.3042T>C
c.2585T>C (p.Ile862Thr)
n.2976T>C
n.2924T>C
gnomAD v4
Xg.71392693T>GCA413525198TAF1c.2192T>G (p.Ile731Ser)
c.2906T>G (p.Ile969Ser)
c.2487T>G
c.2843T>G (p.Ile948Ser)
c.2966T>G (p.Ile989Ser)
c.2903T>G (p.Ile968Ser)
n.3042T>G
c.2585T>G (p.Ile862Ser)
n.2976T>G
n.2924T>G
Xg.71392694T>ACA516728058TAF1c.2193T>A (p.Ile731=)
c.2907T>A (p.Ile969=)
c.2488T>A
c.2844T>A (p.Ile948=)
c.2967T>A (p.Ile989=)
c.2904T>A (p.Ile968=)
n.3043T>A
c.2586T>A (p.Ile862=)
n.2977T>A
n.2925T>A
Xg.71392694T>CCA516728059TAF1c.2193T>C (p.Ile731=)
c.2907T>C (p.Ile969=)
c.2488T>C
c.2844T>C (p.Ile948=)
c.2967T>C (p.Ile989=)
c.2904T>C (p.Ile968=)
n.3043T>C
c.2586T>C (p.Ile862=)
n.2977T>C
n.2925T>C
Xg.71392694T>GCA413525199TAF1c.2193T>G (p.Ile731Met)
c.2907T>G (p.Ile969Met)
c.2488T>G
c.2844T>G (p.Ile948Met)
c.2967T>G (p.Ile989Met)
c.2904T>G (p.Ile968Met)
n.3043T>G
c.2586T>G (p.Ile862Met)
n.2977T>G
n.2925T>G
gnomAD v4
Xg.71392695C>ACA413525207TAF1c.2194C>A (p.Pro732Thr)
c.2908C>A (p.Pro970Thr)
c.2489C>A
c.2845C>A (p.Pro949Thr)
c.2968C>A (p.Pro990Thr)
c.2905C>A (p.Pro969Thr)
n.3044C>A
c.2587C>A (p.Pro863Thr)
n.2978C>A
n.2926C>A
gnomAD v4
Xg.71392695C=CA2436448110TAF1c.2194C= (p.Pro732=)
c.2908C= (p.Pro970=)
c.2489C=
c.2845C= (p.Pro949=)
c.2968C= (p.Pro990=)
c.2905C= (p.Pro969=)
n.3044C=
c.2587C= (p.Pro863=)
n.2978C=
n.2926C=
Xg.71392695C>GCA413525204TAF1c.2194C>G (p.Pro732Ala)
c.2908C>G (p.Pro970Ala)
c.2489C>G
c.2845C>G (p.Pro949Ala)
c.2968C>G (p.Pro990Ala)
c.2905C>G (p.Pro969Ala)
n.3044C>G
c.2587C>G (p.Pro863Ala)
n.2978C>G
n.2926C>G
Xg.71392695C>TCA331017902TAF1c.2194C>T (p.Pro732Ser)
c.2908C>T (p.Pro970Ser)
c.2489C>T
c.2845C>T (p.Pro949Ser)
c.2968C>T (p.Pro990Ser)
c.2905C>T (p.Pro969Ser)
n.3044C>T
c.2587C>T (p.Pro863Ser)
n.2978C>T
n.2926C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched