Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51765784C>ACA480061337SCN8Ac.2658C>A (p.Val886=)
c.505C>A
c.662C>A
n.2786C>A
c.2691C>A (p.Val897=)
12g.51765784C=CA2036184105SCN8Ac.2658C= (p.Val886=)
c.505C=
c.662C=
n.2786C=
c.2691C= (p.Val897=)
12g.51765784C>GCA480061336SCN8Ac.2658C>G (p.Val886=)
c.505C>G
c.662C>G
n.2786C>G
c.2691C>G (p.Val897=)
12g.51765784C>TCA6571502SCN8Ac.2658C>T (p.Val886=)
c.505C>T
c.662C>T
n.2786C>T
c.2691C>T (p.Val897=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51765785T>ACA384887538SCN8Ac.2659T>A (p.Phe887Ile)
c.506T>A
c.663T>A
n.2787T>A
c.2692T>A (p.Phe898Ile)
12g.51765785T>CCA384887541SCN8Ac.2659T>C (p.Phe887Leu)
c.506T>C
c.663T>C
n.2787T>C
c.2692T>C (p.Phe898Leu)
12g.51765785T>GCA384887543SCN8Ac.2659T>G (p.Phe887Val)
c.506T>G
c.663T>G
n.2787T>G
c.2692T>G (p.Phe898Val)
12g.51765786T>ACA384887544SCN8Ac.2660T>A (p.Phe887Tyr)
c.507T>A
c.664T>A
n.2788T>A
c.2693T>A (p.Phe898Tyr)
12g.51765786T>CCA384887545SCN8Ac.2660T>C (p.Phe887Ser)
c.507T>C
c.664T>C
n.2788T>C
c.2693T>C (p.Phe898Ser)
12g.51765786T>GCA384887547SCN8Ac.2660T>G (p.Phe887Cys)
c.507T>G
c.664T>G
n.2788T>G
c.2693T>G (p.Phe898Cys)
12g.51765787C>ACA384887548SCN8Ac.2661C>A (p.Phe887Leu)
c.508C>A
c.665C>A
n.2789C>A
c.2694C>A (p.Phe898Leu)
12g.51765787C>GCA384887550SCN8Ac.2661C>G (p.Phe887Leu)
c.508C>G
c.665C>G
n.2789C>G
c.2694C>G (p.Phe898Leu)
12g.51765787C>TCA480061338SCN8Ac.2661C>T (p.Phe887=)
c.508C>T
c.665C>T
n.2789C>T
c.2694C>T (p.Phe898=)
 gnomAD v4
12g.51765788A=CA2036184116SCN8Ac.2662A= (p.Ile888=)
c.509A=
c.666A=
n.2790A=
c.2695A= (p.Ile899=)
12g.51765788A>CCA384887554SCN8Ac.2662A>C (p.Ile888Leu)
c.509A>C
c.666A>C
n.2790A>C
c.2695A>C (p.Ile899Leu)
12g.51765788A>GCA384887557SCN8Ac.2662A>G (p.Ile888Val)
c.509A>G
c.666A>G
n.2790A>G
c.2695A>G (p.Ile899Val)
 dbSNP gnomAD v2 gnomAD v4
12g.51765788A>TCA384887559SCN8Ac.2662A>T (p.Ile888Phe)
c.509A>T
c.666A>T
n.2790A>T
c.2695A>T (p.Ile899Phe)
12g.51765789T>ACA384887563SCN8Ac.2663T>A (p.Ile888Asn)
c.510T>A
c.667T>A
n.2791T>A
c.2696T>A (p.Ile899Asn)
12g.51765789T>CCA384887572SCN8Ac.2663T>C (p.Ile888Thr)
c.510T>C
c.667T>C
n.2791T>C
c.2696T>C (p.Ile899Thr)
 dbSNP gnomAD v3 gnomAD v4
12g.51765789T>GCA384887573SCN8Ac.2663T>G (p.Ile888Ser)
c.510T>G
c.667T>G
n.2791T>G
c.2696T>G (p.Ile899Ser)
12g.51765790_51765801delCA2695216909SCN8Ac.2664_2675del (p.Ile888_Val892delinsMet)
c.511_522del
c.668_679del
n.2792_2803del
c.2697_2708del (p.Ile899_Val903delinsMet)
12g.51765790C>ACA480061343SCN8Ac.2664C>A (p.Ile888=)
c.511C>A
c.668C>A
n.2792C>A
c.2697C>A (p.Ile899=)
12g.51765790C>GCA384887580SCN8Ac.2664C>G (p.Ile888Met)
c.511C>G
c.668C>G
n.2792C>G
c.2697C>G (p.Ile899Met)
12g.51765790C>TCA480061344SCN8Ac.2664C>T (p.Ile888=)
c.511C>T
c.668C>T
n.2792C>T
c.2697C>T (p.Ile899=)
12g.51765791T>ACA384887585SCN8Ac.2665T>A (p.Phe889Ile)
c.512T>A
c.669T>A
n.2793T>A
c.2698T>A (p.Phe900Ile)
12g.51765791T>CCA384887587SCN8Ac.2665T>C (p.Phe889Leu)
c.512T>C
c.669T>C
n.2793T>C
c.2698T>C (p.Phe900Leu)
12g.51765791T>GCA384887590SCN8Ac.2665T>G (p.Phe889Val)
c.512T>G
c.669T>G
n.2793T>G
c.2698T>G (p.Phe900Val)
12g.51765792T>ACA384887591SCN8Ac.2666T>A (p.Phe889Tyr)
c.513T>A
c.670T>A
n.2794T>A
c.2699T>A (p.Phe900Tyr)
12g.51765792T>CCA384887592SCN8Ac.2666T>C (p.Phe889Ser)
c.513T>C
c.670T>C
n.2794T>C
c.2699T>C (p.Phe900Ser)
12g.51765792T>GCA384887596SCN8Ac.2666T>G (p.Phe889Cys)
c.513T>G
c.670T>G
n.2794T>G
c.2699T>G (p.Phe900Cys)
12g.51765793T>ACA384887604SCN8Ac.2667T>A (p.Phe889Leu)
c.514T>A
c.671T>A
n.2795T>A
c.2700T>A (p.Phe900Leu)
12g.51765793T>CCA480061349SCN8Ac.2667T>C (p.Phe889=)
c.514T>C
c.671T>C
n.2795T>C
c.2700T>C (p.Phe900=)
12g.51765793T>GCA384887599SCN8Ac.2667T>G (p.Phe889Leu)
c.514T>G
c.671T>G
n.2795T>G
c.2700T>G (p.Phe900Leu)
12g.51765794G>ACA10586293SCN8Ac.2668G>A (p.Ala890Thr)
c.515G>A
c.672G>A
n.2796G>A
c.2701G>A (p.Ala901Thr)
 ClinVar dbSNP
12g.51765794G>CCA384887610SCN8Ac.2668G>C (p.Ala890Pro)
c.515G>C
c.672G>C
n.2796G>C
c.2701G>C (p.Ala901Pro)
 ClinVar dbSNP
12g.51765794G=CA2036184120SCN8Ac.2668G= (p.Ala890=)
c.515G=
c.672G=
n.2796G=
c.2701G= (p.Ala901=)
12g.51765794G>TCA384887612SCN8Ac.2668G>T (p.Ala890Ser)
c.515G>T
c.672G>T
n.2796G>T
c.2701G>T (p.Ala901Ser)
12g.51765795C>ACA384887617SCN8Ac.2669C>A (p.Ala890Asp)
c.516C>A
c.673C>A
n.2797C>A
c.2702C>A (p.Ala901Asp)
12g.51765795C>GCA384887622SCN8Ac.2669C>G (p.Ala890Gly)
c.516C>G
c.673C>G
n.2797C>G
c.2702C>G (p.Ala901Gly)
12g.51765795C>TCA384887635SCN8Ac.2669C>T (p.Ala890Val)
c.516C>T
c.673C>T
n.2797C>T
c.2702C>T (p.Ala901Val)
12g.51765796C>ACA480061354SCN8Ac.2670C>A (p.Ala890=)
c.517C>A
c.674C>A
n.2798C>A
c.2703C>A (p.Ala901=)
12g.51765796C=CA2036184127SCN8Ac.2670C= (p.Ala890=)
c.517C=
c.674C=
n.2798C=
c.2703C= (p.Ala901=)
12g.51765796C>GCA480061355SCN8Ac.2670C>G (p.Ala890=)
c.517C>G
c.674C>G
n.2798C>G
c.2703C>G (p.Ala901=)
 ClinVar dbSNP
12g.51765796C>TCA6571503SCN8Ac.2670C>T (p.Ala890=)
c.517C>T
c.674C>T
n.2798C>T
c.2703C>T (p.Ala901=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51765797G>ACA384887642SCN8Ac.2671G>A (p.Val891Met)
c.518G>A
c.675G>A
n.2799G>A
c.2704G>A (p.Val902Met)
 ClinVar dbSNP
12g.51765797G>CCA384887645SCN8Ac.2671G>C (p.Val891Leu)
c.518G>C
c.675G>C
n.2799G>C
c.2704G>C (p.Val902Leu)
12g.51765797G=CA2036184132SCN8Ac.2671G= (p.Val891=)
c.518G=
c.675G=
n.2799G=
c.2704G= (p.Val902=)
12g.51765797G>TCA384887655SCN8Ac.2671G>T (p.Val891Leu)
c.518G>T
c.675G>T
n.2799G>T
c.2704G>T (p.Val902Leu)
 dbSNP
12g.51765798T>ACA384887658SCN8Ac.2672T>A (p.Val891Glu)
c.519T>A
c.676T>A
n.2800T>A
c.2705T>A (p.Val902Glu)
12g.51765798T>CCA384887659SCN8Ac.2672T>C (p.Val891Ala)
c.519T>C
c.676T>C
n.2800T>C
c.2705T>C (p.Val902Ala)
 ClinVar dbSNP
12g.51765798T>GCA16621922SCN8Ac.2672T>G (p.Val891Gly)
c.519T>G
c.676T>G
n.2800T>G
c.2705T>G (p.Val902Gly)
12g.51765799G>ACA480061358SCN8Ac.2673G>A (p.Val891=)
c.520G>A
c.677G>A
n.2801G>A
c.2706G>A (p.Val902=)
12g.51765799G>CCA480061359SCN8Ac.2673G>C (p.Val891=)
c.520G>C
c.677G>C
n.2801G>C
c.2706G>C (p.Val902=)
12g.51765799G>TCA480061360SCN8Ac.2673G>T (p.Val891=)
c.520G>T
c.677G>T
n.2801G>T
c.2706G>T (p.Val902=)
12g.51765800G>ACA384887660SCN8Ac.2674G>A (p.Val892Met)
c.521G>A
c.678G>A
n.2802G>A
c.2707G>A (p.Val903Met)
 ClinVar dbSNP
12g.51765800G>CCA384887664SCN8Ac.2674G>C (p.Val892Leu)
c.521G>C
c.678G>C
n.2802G>C
c.2707G>C (p.Val903Leu)
12g.51765800G=CA2036184139SCN8Ac.2674G= (p.Val892=)
c.521G=
c.678G=
n.2802G=
c.2707G= (p.Val903=)
12g.51765800G>TCA384887662SCN8Ac.2674G>T (p.Val892Leu)
c.521G>T
c.678G>T
n.2802G>T
c.2707G>T (p.Val903Leu)
 ClinVar
12g.51765801T>ACA384887667SCN8Ac.2675T>A (p.Val892Glu)
c.522T>A
c.679T>A
n.2803T>A
c.2708T>A (p.Val903Glu)
12g.51765801T>CCA384887673SCN8Ac.2675T>C (p.Val892Ala)
c.522T>C
c.679T>C
n.2803T>C
c.2708T>C (p.Val903Ala)
 ClinVar
12g.51765801T>GCA279639SCN8Ac.2675T>G (p.Val892Gly)
c.522T>G
c.679T>G
n.2803T>G
c.2708T>G (p.Val903Gly)
 ClinVar dbSNP
12g.51765801T=CA2036184145SCN8Ac.2675T= (p.Val892=)
c.522T=
c.679T=
n.2803T=
c.2708T= (p.Val903=)
12g.51765802G>ACA480061365SCN8Ac.2676G>A (p.Val892=)
c.523G>A
c.680G>A
n.2804G>A
c.2709G>A (p.Val903=)
12g.51765802G>CCA480061367SCN8Ac.2676G>C (p.Val892=)
c.523G>C
c.680G>C
n.2804G>C
c.2709G>C (p.Val903=)
12g.51765802G>TCA480061369SCN8Ac.2676G>T (p.Val892=)
c.523G>T
c.680G>T
n.2804G>T
c.2709G>T (p.Val903=)
12g.51765803G>ACA384887677SCN8Ac.2677G>A (p.Gly893Arg)
c.524G>A
c.681G>A
n.2805G>A
c.2710G>A (p.Gly904Arg)
12g.51765803G>CCA384887684SCN8Ac.2677G>C (p.Gly893Arg)
c.524G>C
c.681G>C
n.2805G>C
c.2710G>C (p.Gly904Arg)
12g.51765803G>TCA384887679SCN8Ac.2677G>T (p.Gly893Trp)
c.524G>T
c.681G>T
n.2805G>T
c.2710G>T (p.Gly904Trp)
12g.51765804G>ACA384887691SCN8Ac.2678G>A (p.Gly893Glu)
c.525G>A
c.682G>A
n.2806G>A
c.2711G>A (p.Gly904Glu)
 COSMIC COSMIC
12g.51765804G>CCA384887693SCN8Ac.2678G>C (p.Gly893Ala)
c.525G>C
c.682G>C
n.2806G>C
c.2711G>C (p.Gly904Ala)
12g.51765804G>TCA384887695SCN8Ac.2678G>T (p.Gly893Val)
c.525G>T
c.682G>T
n.2806G>T
c.2711G>T (p.Gly904Val)
12g.51765805G>ACA480061373SCN8Ac.2679G>A (p.Gly893=)
c.526G>A
c.683G>A
n.2807G>A
c.2712G>A (p.Gly904=)
 COSMIC COSMIC
12g.51765805G>CCA480061374SCN8Ac.2679G>C (p.Gly893=)
c.526G>C
c.683G>C
n.2807G>C
c.2712G>C (p.Gly904=)
 gnomAD v4
12g.51765805G>TCA480061375SCN8Ac.2679G>T (p.Gly893=)
c.526G>T
c.683G>T
n.2807G>T
c.2712G>T (p.Gly904=)
12g.51765806A>CCA384887700SCN8Ac.2680A>C (p.Met894Leu)
c.527A>C
c.684A>C
n.2808A>C
c.2713A>C (p.Met905Leu)
12g.51765806A>GCA384887703SCN8Ac.2680A>G (p.Met894Val)
c.527A>G
c.684A>G
n.2808A>G
c.2713A>G (p.Met905Val)
12g.51765806A>TCA384887706SCN8Ac.2680A>T (p.Met894Leu)
c.527A>T
c.684A>T
n.2808A>T
c.2713A>T (p.Met905Leu)
12g.51765807T>ACA384887713SCN8Ac.2681T>A (p.Met894Lys)
c.528T>A
c.685T>A
n.2809T>A
c.2714T>A (p.Met905Lys)
12g.51765807T>CCA384887717SCN8Ac.2681T>C (p.Met894Thr)
c.528T>C
c.685T>C
n.2809T>C
c.2714T>C (p.Met905Thr)
12g.51765807T>GCA384887722SCN8Ac.2681T>G (p.Met894Arg)
c.528T>G
c.685T>G
n.2809T>G
c.2714T>G (p.Met905Arg)
12g.51765808G>ACA384887726SCN8Ac.2682G>A (p.Met894Ile)
c.529G>A
c.686G>A
n.2810G>A
c.2715G>A (p.Met905Ile)
12g.51765808G>CCA384887729SCN8Ac.2682G>C (p.Met894Ile)
c.529G>C
c.686G>C
n.2810G>C
c.2715G>C (p.Met905Ile)
12g.51765808G>TCA384887732SCN8Ac.2682G>T (p.Met894Ile)
c.529G>T
c.686G>T
n.2810G>T
c.2715G>T (p.Met905Ile)
12g.51765809C>ACA384887736SCN8Ac.2683C>A (p.Gln895Lys)
c.530C>A
c.687C>A
n.2811C>A
c.2716C>A (p.Gln906Lys)
12g.51765809C>GCA384887738SCN8Ac.2683C>G (p.Gln895Glu)
c.530C>G
c.687C>G
n.2811C>G
c.2716C>G (p.Gln906Glu)
 ClinVar
12g.51765809C>TCA384887737SCN8Ac.2683C>T (p.Gln895Ter)
c.530C>T
c.687C>T
n.2811C>T
c.2716C>T (p.Gln906Ter)
12g.51765810A>CCA384887744SCN8Ac.2684A>C (p.Gln895Pro)
c.531A>C
c.688A>C
n.2812A>C
c.2717A>C (p.Gln906Pro)
12g.51765810A>GCA384887748SCN8Ac.2684A>G (p.Gln895Arg)
c.531A>G
c.688A>G
n.2812A>G
c.2717A>G (p.Gln906Arg)
12g.51765810A>TCA384887751SCN8Ac.2684A>T (p.Gln895Leu)
c.531A>T
c.688A>T
n.2812A>T
c.2717A>T (p.Gln906Leu)
12g.51765811A=CA2036184154SCN8Ac.2685A= (p.Gln895=)
c.532A=
c.689A=
n.2813A=
c.2718A= (p.Gln906=)
12g.51765811A>CCA384887756SCN8Ac.2685A>C (p.Gln895His)
c.532A>C
c.689A>C
n.2813A>C
c.2718A>C (p.Gln906His)
 ClinVar
12g.51765811A>GCA6571504SCN8Ac.2685A>G (p.Gln895=)
c.532A>G
c.689A>G
n.2813A>G
c.2718A>G (p.Gln906=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51765811A>TCA384887766SCN8Ac.2685A>T (p.Gln895His)
c.532A>T
c.689A>T
n.2813A>T
c.2718A>T (p.Gln906His)
12g.51765812C>ACA384887774SCN8Ac.2686C>A (p.Leu896Ile)
c.533C>A
c.690C>A
n.2814C>A
c.2719C>A (p.Leu907Ile)
12g.51765812C>GCA384887777SCN8Ac.2686C>G (p.Leu896Val)
c.533C>G
c.690C>G
n.2814C>G
c.2719C>G (p.Leu907Val)
12g.51765812C>TCA384887782SCN8Ac.2686C>T (p.Leu896Phe)
c.533C>T
c.690C>T
n.2814C>T
c.2719C>T (p.Leu907Phe)
12g.51765813T>ACA384887795SCN8Ac.2687T>A (p.Leu896His)
c.534T>A
c.691T>A
n.2815T>A
c.2720T>A (p.Leu907His)
 COSMIC COSMIC
12g.51765813T>CCA384887792SCN8Ac.2687T>C (p.Leu896Pro)
c.534T>C
c.691T>C
n.2815T>C
c.2720T>C (p.Leu907Pro)
12g.51765813T>GCA384887789SCN8Ac.2687T>G (p.Leu896Arg)
c.534T>G
c.691T>G
n.2815T>G
c.2720T>G (p.Leu907Arg)
12g.51765814C>ACA480061388SCN8Ac.2688C>A (p.Leu896=)
c.535C>A
c.692C>A
n.2816C>A
c.2721C>A (p.Leu907=)
12g.51765814C>GCA480061389SCN8Ac.2688C>G (p.Leu896=)
c.535C>G
c.692C>G
n.2816C>G
c.2721C>G (p.Leu907=)
12g.51765814C>TCA480061390SCN8Ac.2688C>T (p.Leu896=)
c.535C>T
c.692C>T
n.2816C>T
c.2721C>T (p.Leu907=)
12g.51765815T>ACA384887802SCN8Ac.2689T>A (p.Phe897Ile)
c.536T>A
c.693T>A
n.2817T>A
c.2722T>A (p.Phe908Ile)
12g.51765815T>CCA384887806SCN8Ac.2689T>C (p.Phe897Leu)
c.536T>C
c.693T>C
n.2817T>C
c.2722T>C (p.Phe908Leu)
 COSMIC COSMIC
12g.51765815T>GCA384887809SCN8Ac.2689T>G (p.Phe897Val)
c.536T>G
c.693T>G
n.2817T>G
c.2722T>G (p.Phe908Val)
12g.51765816T>ACA384887814SCN8Ac.2690T>A (p.Phe897Tyr)
c.537T>A
c.694T>A
n.2818T>A
c.2723T>A (p.Phe908Tyr)
12g.51765816T>CCA384887816SCN8Ac.2690T>C (p.Phe897Ser)
c.537T>C
c.694T>C
n.2818T>C
c.2723T>C (p.Phe908Ser)
12g.51765816T>GCA384887818SCN8Ac.2690T>G (p.Phe897Cys)
c.537T>G
c.694T>G
n.2818T>G
c.2723T>G (p.Phe908Cys)
12g.51765817T>ACA384887830SCN8Ac.2691T>A (p.Phe897Leu)
c.538T>A
c.695T>A
n.2819T>A
c.2724T>A (p.Phe908Leu)
12g.51765817T>CCA16043755SCN8Ac.2691T>C (p.Phe897=)
c.538T>C
c.695T>C
n.2819T>C
c.2724T>C (p.Phe908=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51765817T>GCA384887833SCN8Ac.2691T>G (p.Phe897Leu)
c.538T>G
c.695T>G
n.2819T>G
c.2724T>G (p.Phe908Leu)
12g.51765817T=CA2036184163SCN8Ac.2691T= (p.Phe897=)
c.538T=
c.695T=
n.2819T=
c.2724T= (p.Phe908=)
12g.51765818G>ACA384887838SCN8Ac.2692G>A (p.Gly898Arg)
c.539G>A
c.696G>A
n.2820G>A
c.2725G>A (p.Gly909Arg)
12g.51765818G>CCA384887855SCN8Ac.2692G>C (p.Gly898Arg)
c.539G>C
c.696G>C
n.2820G>C
c.2725G>C (p.Gly909Arg)
12g.51765818G=CA2036184168SCN8Ac.2692G= (p.Gly898=)
c.539G=
c.696G=
n.2820G=
c.2725G= (p.Gly909=)
12g.51765818G>TCA384887857SCN8Ac.2692G>T (p.Gly898Ter)
c.539G>T
c.696G>T
n.2820G>T
c.2725G>T (p.Gly909Ter)
 dbSNP
12g.51765819delCA2573148769SCN8Ac.2693del (p.Gly898GlufsTer?)
c.540del
c.697del
n.2821del
c.2726del (p.Gly909GlufsTer?)
 ClinVar dbSNP
12g.51765819G>ACA384887869SCN8Ac.2693G>A (p.Gly898Glu)
c.540G>A
c.697G>A
n.2821G>A
c.2726G>A (p.Gly909Glu)
 gnomAD v4 COSMIC COSMIC
12g.51765819G>CCA384887864SCN8Ac.2693G>C (p.Gly898Ala)
c.540G>C
c.697G>C
n.2821G>C
c.2726G>C (p.Gly909Ala)
12g.51765819G>TCA384887865SCN8Ac.2693G>T (p.Gly898Val)
c.540G>T
c.697G>T
n.2821G>T
c.2726G>T (p.Gly909Val)
12g.51765820A>CCA480061402SCN8Ac.2694A>C (p.Gly898=)
c.541A>C
c.698A>C
n.2822A>C
c.2727A>C (p.Gly909=)
12g.51765820A>GCA480061403SCN8Ac.2694A>G (p.Gly898=)
c.541A>G
c.698A>G
n.2822A>G
c.2727A>G (p.Gly909=)
 gnomAD v4
12g.51765820A>TCA480061404SCN8Ac.2694A>T (p.Gly898=)
c.541A>T
c.698A>T
n.2822A>T
c.2727A>T (p.Gly909=)
12g.51765821A>CCA384887877SCN8Ac.2695A>C (p.Lys899Gln)
c.542A>C
c.699A>C
n.2823A>C
c.2728A>C (p.Lys910Gln)
12g.51765821A>GCA384887883SCN8Ac.2695A>G (p.Lys899Glu)
c.542A>G
c.699A>G
n.2823A>G
c.2728A>G (p.Lys910Glu)
12g.51765821A>TCA384887885SCN8Ac.2695A>T (p.Lys899Ter)
c.542A>T
c.699A>T
n.2823A>T
c.2728A>T (p.Lys910Ter)
12g.51765822A>CCA384887892SCN8Ac.2696A>C (p.Lys899Thr)
c.543A>C
c.700A>C
n.2824A>C
c.2729A>C (p.Lys910Thr)
12g.51765822A>GCA384887895SCN8Ac.2696A>G (p.Lys899Arg)
c.543A>G
c.700A>G
n.2824A>G
c.2729A>G (p.Lys910Arg)
12g.51765822A>TCA384887898SCN8Ac.2696A>T (p.Lys899Ile)
c.543A>T
c.700A>T
n.2824A>T
c.2729A>T (p.Lys910Ile)
12g.51765823A>CCA384887901SCN8Ac.2697A>C (p.Lys899Asn)
c.544A>C
c.701A>C
n.2825A>C
c.2730A>C (p.Lys910Asn)
12g.51765823A>GCA480061410SCN8Ac.2697A>G (p.Lys899=)
c.544A>G
c.701A>G
n.2825A>G
c.2730A>G (p.Lys910=)
12g.51765823A>TCA384887905SCN8Ac.2697A>T (p.Lys899Asn)
c.544A>T
c.701A>T
n.2825A>T
c.2730A>T (p.Lys910Asn)
12g.51765824A>CCA384887911SCN8Ac.2698A>C (p.Ser900Arg)
c.545A>C
c.702A>C
n.2826A>C
c.2731A>C (p.Ser911Arg)
12g.51765824A>GCA384887914SCN8Ac.2698A>G (p.Ser900Gly)
c.545A>G
c.702A>G
n.2826A>G
c.2731A>G (p.Ser911Gly)
 gnomAD v4
12g.51765824A>TCA384887919SCN8Ac.2698A>T (p.Ser900Cys)
c.545A>T
c.702A>T
n.2826A>T
c.2731A>T (p.Ser911Cys)
12g.51765825G>ACA384887935SCN8Ac.2699G>A (p.Ser900Asn)
c.546G>A
c.703G>A
n.2827G>A
c.2732G>A (p.Ser911Asn)
12g.51765825G>CCA384887940SCN8Ac.2699G>C (p.Ser900Thr)
c.546G>C
c.703G>C
n.2827G>C
c.2732G>C (p.Ser911Thr)
12g.51765825G>TCA384887922SCN8Ac.2699G>T (p.Ser900Ile)
c.546G>T
c.703G>T
n.2827G>T
c.2732G>T (p.Ser911Ile)
12g.51765826C>ACA384887943SCN8Ac.2700C>A (p.Ser900Arg)
c.547C>A
c.704C>A
n.2828C>A
c.2733C>A (p.Ser911Arg)
12g.51765826C>GCA384887942SCN8Ac.2700C>G (p.Ser900Arg)
c.547C>G
c.704C>G
n.2828C>G
c.2733C>G (p.Ser911Arg)
12g.51765826C>TCA480061416SCN8Ac.2700C>T (p.Ser900=)
c.547C>T
c.704C>T
n.2828C>T
c.2733C>T (p.Ser911=)
12g.51765827T>ACA384887944SCN8Ac.2701T>A (p.Tyr901Asn)
c.548T>A
c.705T>A
n.2829T>A
c.2734T>A (p.Tyr912Asn)
12g.51765827T>CCA384887946SCN8Ac.2701T>C (p.Tyr901His)
c.548T>C
c.705T>C
n.2829T>C
c.2734T>C (p.Tyr912His)
12g.51765827T>GCA384887949SCN8Ac.2701T>G (p.Tyr901Asp)
c.548T>G
c.705T>G
n.2829T>G
c.2734T>G (p.Tyr912Asp)
12g.51765828A=CA2036184172SCN8Ac.2702A= (p.Tyr901=)
c.549A=
c.706A=
n.2830A=
c.2735A= (p.Tyr912=)
12g.51765828A>CCA384887950SCN8Ac.2702A>C (p.Tyr901Ser)
c.549A>C
c.706A>C
n.2830A>C
c.2735A>C (p.Tyr912Ser)
12g.51765828A>GCA384887951SCN8Ac.2702A>G (p.Tyr901Cys)
c.549A>G
c.706A>G
n.2830A>G
c.2735A>G (p.Tyr912Cys)
 ClinVar dbSNP gnomAD v4
12g.51765828A>TCA384887954SCN8Ac.2702A>T (p.Tyr901Phe)
c.549A>T
c.706A>T
n.2830A>T
c.2735A>T (p.Tyr912Phe)
12g.51765829C>ACA384887979SCN8Ac.2703C>A (p.Tyr901Ter)
c.550C>A
c.707C>A
n.2831C>A
c.2736C>A (p.Tyr912Ter)
12g.51765829C>GCA384887982SCN8Ac.2703C>G (p.Tyr901Ter)
c.550C>G
c.707C>G
n.2831C>G
c.2736C>G (p.Tyr912Ter)
12g.51765829C>TCA480061420SCN8Ac.2703C>T (p.Tyr901=)
c.550C>T
c.707C>T
n.2831C>T
c.2736C>T (p.Tyr912=)
 gnomAD v4
12g.51765830A=CA2036184177SCN8Ac.2704A= (p.Lys902=)
c.551A=
c.708A=
n.2832A=
c.2737A= (p.Lys913=)
12g.51765830A>CCA384887985SCN8Ac.2704A>C (p.Lys902Gln)
c.551A>C
c.708A>C
n.2832A>C
c.2737A>C (p.Lys913Gln)
12g.51765830A>GCA384887989SCN8Ac.2704A>G (p.Lys902Glu)
c.551A>G
c.708A>G
n.2832A>G
c.2737A>G (p.Lys913Glu)
12g.51765830A>TCA384887995SCN8Ac.2704A>T (p.Lys902Ter)
c.551A>T
c.708A>T
n.2832A>T
c.2737A>T (p.Lys913Ter)
 dbSNP
12g.51765832delCA2499221733SCN8Ac.2706del (p.Glu903SerfsTer?)
c.553del
c.710del
n.2834del
c.2739del (p.Glu914SerfsTer?)
 ClinVar dbSNP
12g.51765831A>CCA384888001SCN8Ac.2705A>C (p.Lys902Thr)
c.552A>C
c.709A>C
n.2833A>C
c.2738A>C (p.Lys913Thr)
12g.51765831A>GCA384888004SCN8Ac.2705A>G (p.Lys902Arg)
c.552A>G
c.709A>G
n.2833A>G
c.2738A>G (p.Lys913Arg)
12g.51765831A>TCA384887999SCN8Ac.2705A>T (p.Lys902Ile)
c.552A>T
c.709A>T
n.2833A>T
c.2738A>T (p.Lys913Ile)
12g.51765832A>CCA384888005SCN8Ac.2706A>C (p.Lys902Asn)
c.553A>C
c.710A>C
n.2834A>C
c.2739A>C (p.Lys913Asn)
12g.51765832A>GCA480061426SCN8Ac.2706A>G (p.Lys902=)
c.553A>G
c.710A>G
n.2834A>G
c.2739A>G (p.Lys913=)
12g.51765832A>TCA384888009SCN8Ac.2706A>T (p.Lys902Asn)
c.553A>T
c.710A>T
n.2834A>T
c.2739A>T (p.Lys913Asn)
12g.51765833G>ACA384888014SCN8Ac.2707G>A (p.Glu903Lys)
c.554G>A
c.711G>A
n.2835G>A
c.2740G>A (p.Glu914Lys)
12g.51765833G>CCA384888016SCN8Ac.2707G>C (p.Glu903Gln)
c.554G>C
c.711G>C
n.2835G>C
c.2740G>C (p.Glu914Gln)
 COSMIC COSMIC
12g.51765833G=CA2036184182SCN8Ac.2707G= (p.Glu903=)
c.554G=
c.711G=
n.2835G=
c.2740G= (p.Glu914=)
12g.51765833G>TCA384888020SCN8Ac.2707G>T (p.Glu903Ter)
c.554G>T
c.711G>T
n.2835G>T
c.2740G>T (p.Glu914Ter)
 dbSNP
12g.51765834A>CCA384888030SCN8Ac.2708A>C (p.Glu903Ala)
c.555A>C
c.712A>C
n.2836A>C
c.2741A>C (p.Glu914Ala)
 ClinVar dbSNP
12g.51765834A>GCA384888024SCN8Ac.2708A>G (p.Glu903Gly)
c.555A>G
c.712A>G
n.2836A>G
c.2741A>G (p.Glu914Gly)
12g.51765834A>TCA384888027SCN8Ac.2708A>T (p.Glu903Val)
c.555A>T
c.712A>T
n.2836A>T
c.2741A>T (p.Glu914Val)
12g.51765835G>ACA236317158SCN8Ac.2709G>A (p.Glu903=)
c.556G>A
c.713G>A
n.2837G>A
c.2742G>A (p.Glu914=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51765835G>CCA384888036SCN8Ac.2709G>C (p.Glu903Asp)
c.556G>C
c.713G>C
n.2837G>C
c.2742G>C (p.Glu914Asp)
12g.51765835G=CA2036184185SCN8Ac.2709G= (p.Glu903=)
c.556G=
c.713G=
n.2837G=
c.2742G= (p.Glu914=)
12g.51765835G>TCA384888045SCN8Ac.2709G>T (p.Glu903Asp)
c.556G>T
c.713G>T
n.2837G>T
c.2742G>T (p.Glu914Asp)
12g.51765836T>ACA384888050SCN8Ac.2710T>A (p.Cys904Ser)
c.557T>A
c.714T>A
n.2838T>A
c.2743T>A (p.Cys915Ser)
12g.51765836T>CCA384888055SCN8Ac.2710T>C (p.Cys904Arg)
c.557T>C
c.714T>C
n.2838T>C
c.2743T>C (p.Cys915Arg)
12g.51765836T>GCA384888057SCN8Ac.2710T>G (p.Cys904Gly)
c.557T>G
c.714T>G
n.2838T>G
c.2743T>G (p.Cys915Gly)
12g.51765837G>ACA384888068SCN8Ac.2711G>A (p.Cys904Tyr)
c.558G>A
c.715G>A
n.2839G>A
c.2744G>A (p.Cys915Tyr)
 ClinVar
12g.51765837G>CCA384888064SCN8Ac.2711G>C (p.Cys904Ser)
c.558G>C
c.715G>C
n.2839G>C
c.2744G>C (p.Cys915Ser)
12g.51765837G>TCA384888061SCN8Ac.2711G>T (p.Cys904Phe)
c.558G>T
c.715G>T
n.2839G>T
c.2744G>T (p.Cys915Phe)
12g.51765838T>ACA384888074SCN8Ac.2712T>A (p.Cys904Ter)
c.559T>A
c.716T>A
n.2840T>A
c.2745T>A (p.Cys915Ter)
 dbSNP
12g.51765838T>CCA480061434SCN8Ac.2712T>C (p.Cys904=)
c.559T>C
c.716T>C
n.2840T>C
c.2745T>C (p.Cys915=)
 ClinVar dbSNP
12g.51765838T>GCA384888078SCN8Ac.2712T>G (p.Cys904Trp)
c.559T>G
c.716T>G
n.2840T>G
c.2745T>G (p.Cys915Trp)
12g.51765838T=CA2036184191SCN8Ac.2712T= (p.Cys904=)
c.559T=
c.716T=
n.2840T=
c.2745T= (p.Cys915=)
12g.51765839G>ACA384888083SCN8Ac.2713G>A (p.Val905Ile)
c.560G>A
c.717G>A
n.2841G>A
c.2746G>A (p.Val916Ile)
12g.51765839G>CCA384888089SCN8Ac.2713G>C (p.Val905Leu)
c.560G>C
c.717G>C
n.2841G>C
c.2746G>C (p.Val916Leu)
12g.51765839G>TCA384888096SCN8Ac.2713G>T (p.Val905Phe)
c.560G>T
c.717G>T
n.2841G>T
c.2746G>T (p.Val916Phe)
12g.51765840T>ACA384888099SCN8Ac.2714T>A (p.Val905Asp)
c.561T>A
c.718T>A
n.2842T>A
c.2747T>A (p.Val916Asp)
12g.51765840T>CCA384888103SCN8Ac.2714T>C (p.Val905Ala)
c.561T>C
c.718T>C
n.2842T>C
c.2747T>C (p.Val916Ala)
12g.51765840T>GCA384888112SCN8Ac.2714T>G (p.Val905Gly)
c.561T>G
c.718T>G
n.2842T>G
c.2747T>G (p.Val916Gly)
12g.51765841C>ACA480061438SCN8Ac.2715C>A (p.Val905=)
c.562C>A
c.719C>A
n.2843C>A
c.2748C>A (p.Val916=)
12g.51765841C=CA2036184195SCN8Ac.2715C= (p.Val905=)
c.562C=
c.719C=
n.2843C=
c.2748C= (p.Val916=)
12g.51765841C>GCA6571505SCN8Ac.2715C>G (p.Val905=)
c.562C>G
c.719C>G
n.2843C>G
c.2748C>G (p.Val916=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51765841C>TCA480061436SCN8Ac.2715C>T (p.Val905=)
c.562C>T
c.719C>T
n.2843C>T
c.2748C>T (p.Val916=)
12g.51765842T>ACA384888116SCN8Ac.2716T>A (p.Cys906Ser)
c.563T>A
c.720T>A
n.2844T>A
c.2749T>A (p.Cys917Ser)
12g.51765842T>CCA384888118SCN8Ac.2716T>C (p.Cys906Arg)
c.563T>C
c.720T>C
n.2844T>C
c.2749T>C (p.Cys917Arg)
12g.51765842T>GCA384888124SCN8Ac.2716T>G (p.Cys906Gly)
c.563T>G
c.720T>G
n.2844T>G
c.2749T>G (p.Cys917Gly)
12g.51765843G>ACA384888133SCN8Ac.2717G>A (p.Cys906Tyr)
c.564G>A
c.721G>A
n.2845G>A
c.2750G>A (p.Cys917Tyr)
12g.51765843G>CCA384888135SCN8Ac.2717G>C (p.Cys906Ser)
c.564G>C
c.721G>C
n.2845G>C
c.2750G>C (p.Cys917Ser)
12g.51765843G>TCA384888131SCN8Ac.2717G>T (p.Cys906Phe)
c.564G>T
c.721G>T
n.2845G>T
c.2750G>T (p.Cys917Phe)
12g.51765844C>ACA384888139SCN8Ac.2718C>A (p.Cys906Ter)
c.565C>A
c.722C>A
n.2846C>A
c.2751C>A (p.Cys917Ter)
 dbSNP
12g.51765844C=CA2036184200SCN8Ac.2718C= (p.Cys906=)
c.565C=
c.722C=
n.2846C=
c.2751C= (p.Cys917=)
12g.51765844C>GCA384888149SCN8Ac.2718C>G (p.Cys906Trp)
c.565C>G
c.722C>G
n.2846C>G
c.2751C>G (p.Cys917Trp)
12g.51765844C>TCA480061442SCN8Ac.2718C>T (p.Cys906=)
c.565C>T
c.722C>T
n.2846C>T
c.2751C>T (p.Cys917=)
12g.51765845A=CA2036184205SCN8Ac.2719A= (p.Lys907=)
c.566A=
c.723A=
n.2847A=
c.2752A= (p.Lys918=)
12g.51765845A>CCA384888152SCN8Ac.2719A>C (p.Lys907Gln)
c.566A>C
c.723A>C
n.2847A>C
c.2752A>C (p.Lys918Gln)
12g.51765845A>GCA384888159SCN8Ac.2719A>G (p.Lys907Glu)
c.566A>G
c.723A>G
n.2847A>G
c.2752A>G (p.Lys918Glu)
12g.51765845A>TCA384888162SCN8Ac.2719A>T (p.Lys907Ter)
c.566A>T
c.723A>T
n.2847A>T
c.2752A>T (p.Lys918Ter)
 dbSNP
12g.51765846A=CA2036184210SCN8Ac.2720A= (p.Lys907=)
c.567A=
c.724A=
n.2848A=
c.2753A= (p.Lys918=)
12g.51765846A>CCA384888194SCN8Ac.2720A>C (p.Lys907Thr)
c.567A>C
c.724A>C
n.2848A>C
c.2753A>C (p.Lys918Thr)
 dbSNP gnomAD v2 gnomAD v4
12g.51765846A>GCA384888168SCN8Ac.2720A>G (p.Lys907Arg)
c.567A>G
c.724A>G
n.2848A>G
c.2753A>G (p.Lys918Arg)
 ClinVar
12g.51765846A>TCA384888190SCN8Ac.2720A>T (p.Lys907Met)
c.567A>T
c.724A>T
n.2848A>T
c.2753A>T (p.Lys918Met)
12g.51765847G>ACA480061443SCN8Ac.2721G>A (p.Lys907=)
c.568G>A
c.725G>A
n.2849G>A
c.2754G>A (p.Lys918=)
 gnomAD v4
12g.51765847G>CCA236317164SCN8Ac.2721G>C (p.Lys907Asn)
c.568G>C
c.725G>C
n.2849G>C
c.2754G>C (p.Lys918Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51765847G=CA2036184212SCN8Ac.2721G= (p.Lys907=)
c.568G=
c.725G=
n.2849G=
c.2754G= (p.Lys918=)
12g.51765847G>TCA384888199SCN8Ac.2721G>T (p.Lys907Asn)
c.568G>T
c.725G>T
n.2849G>T
c.2754G>T (p.Lys918Asn)
12g.51765848A>CCA384888203SCN8Ac.2722A>C (p.Ile908Leu)
c.569A>C
c.726A>C
n.2850A>C
c.2755A>C (p.Ile919Leu)
12g.51765848A>GCA384888204SCN8Ac.2722A>G (p.Ile908Val)
c.569A>G
c.726A>G
n.2850A>G
c.2755A>G (p.Ile919Val)
12g.51765848A>TCA384888205SCN8Ac.2722A>T (p.Ile908Phe)
c.569A>T
c.726A>T
n.2850A>T
c.2755A>T (p.Ile919Phe)
12g.51765849T>ACA384888212SCN8Ac.2723T>A (p.Ile908Asn)
c.570T>A
c.727T>A
n.2851T>A
c.2756T>A (p.Ile919Asn)
12g.51765849T>CCA384888211SCN8Ac.2723T>C (p.Ile908Thr)
c.570T>C
c.727T>C
n.2851T>C
c.2756T>C (p.Ile919Thr)
12g.51765849T>GCA384888209SCN8Ac.2723T>G (p.Ile908Ser)
c.570T>G
c.727T>G
n.2851T>G
c.2756T>G (p.Ile919Ser)
12g.51765850C>ACA480061444SCN8Ac.2724C>A (p.Ile908=)
c.571C>A
c.728C>A
n.2852C>A
c.2757C>A (p.Ile919=)
12g.51765850C>GCA384888213SCN8Ac.2724C>G (p.Ile908Met)
c.571C>G
c.728C>G
n.2852C>G
c.2757C>G (p.Ile919Met)
12g.51765850C>TCA480061447SCN8Ac.2724C>T (p.Ile908=)
c.571C>T
c.728C>T
n.2852C>T
c.2757C>T (p.Ile919=)
12g.51765851A>CCA384888220SCN8Ac.2725A>C (p.Asn909His)
c.572A>C
c.729A>C
n.2853A>C
c.2758A>C (p.Asn920His)
12g.51765851A>GCA384888215SCN8Ac.2725A>G (p.Asn909Asp)
c.572A>G
c.729A>G
n.2853A>G
c.2758A>G (p.Asn920Asp)
12g.51765851A>TCA384888218SCN8Ac.2725A>T (p.Asn909Tyr)
c.572A>T
c.729A>T
n.2853A>T
c.2758A>T (p.Asn920Tyr)
12g.51765852A=CA2036184218SCN8Ac.2726A= (p.Asn909=)
c.573A=
c.730A=
n.2854A=
c.2759A= (p.Asn920=)
12g.51765852A>CCA384888224SCN8Ac.2726A>C (p.Asn909Thr)
c.573A>C
c.730A>C
n.2854A>C
c.2759A>C (p.Asn920Thr)
12g.51765852A>GCA6571506SCN8Ac.2726A>G (p.Asn909Ser)
c.573A>G
c.730A>G
n.2854A>G
c.2759A>G (p.Asn920Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51765852A>TCA384888228SCN8Ac.2726A>T (p.Asn909Ile)
c.573A>T
c.730A>T
n.2854A>T
c.2759A>T (p.Asn920Ile)
 COSMIC COSMIC
12g.51765853C>ACA384888233SCN8Ac.2727C>A (p.Asn909Lys)
c.574C>A
c.731C>A
n.2855C>A
c.2760C>A (p.Asn920Lys)
 dbSNP
12g.51765853C=CA2036184221SCN8Ac.2727C= (p.Asn909=)
c.574C=
c.731C=
n.2855C=
c.2760C= (p.Asn920=)
12g.51765853C>GCA384888236SCN8Ac.2727C>G (p.Asn909Lys)
c.574C>G
c.731C>G
n.2855C>G
c.2760C>G (p.Asn920Lys)
12g.51765853C>TCA480061449SCN8Ac.2727C>T (p.Asn909=)
c.574C>T
c.731C>T
n.2855C>T
c.2760C>T (p.Asn920=)
12g.51765854C>ACA384888249SCN8Ac.2728C>A (p.Gln910Lys)
c.575C>A
c.732C>A
n.2856C>A
c.2761C>A (p.Gln921Lys)
12g.51765854C=CA2036184223SCN8Ac.2728C= (p.Gln910=)
c.575C=
c.732C=
n.2856C=
c.2761C= (p.Gln921=)
12g.51765854C>GCA384888241SCN8Ac.2728C>G (p.Gln910Glu)
c.575C>G
c.732C>G
n.2856C>G
c.2761C>G (p.Gln921Glu)
 dbSNP gnomAD v3 gnomAD v4
12g.51765854C>TCA384888245SCN8Ac.2728C>T (p.Gln910Ter)
c.575C>T
c.732C>T
n.2856C>T
c.2761C>T (p.Gln921Ter)
12g.51765855A>CCA384888252SCN8Ac.2729A>C (p.Gln910Pro)
c.576A>C
c.733A>C
n.2857A>C
c.2762A>C (p.Gln921Pro)
12g.51765855A>GCA384888254SCN8Ac.2729A>G (p.Gln910Arg)
c.576A>G
c.733A>G
n.2857A>G
c.2762A>G (p.Gln921Arg)
12g.51765855A>TCA384888256SCN8Ac.2729A>T (p.Gln910Leu)
c.576A>T
c.733A>T
n.2857A>T
c.2762A>T (p.Gln921Leu)
12g.51765856G>ACA480061451SCN8Ac.2730G>A (p.Gln910=)
c.577G>A
c.734G>A
n.2858G>A
c.2763G>A (p.Gln921=)
12g.51765856G>CCA384888259SCN8Ac.2730G>C (p.Gln910His)
c.577G>C
c.734G>C
n.2858G>C
c.2763G>C (p.Gln921His)
12g.51765856G=CA2036184226SCN8Ac.2730G= (p.Gln910=)
c.577G=
c.734G=
n.2858G=
c.2763G= (p.Gln921=)
12g.51765856G>TCA236317171SCN8Ac.2730G>T (p.Gln910His)
c.577G>T
c.734G>T
n.2858G>T
c.2763G>T (p.Gln921His)
 dbSNP
12g.51765857G>ACA384888266SCN8Ac.2731G>A (p.Asp911Asn)
c.578G>A
c.735G>A
n.2859G>A
c.2764G>A (p.Asp922Asn)
12g.51765857G>CCA384888271SCN8Ac.2731G>C (p.Asp911His)
c.578G>C
c.735G>C
n.2859G>C
c.2764G>C (p.Asp922His)
12g.51765857G>TCA384888268SCN8Ac.2731G>T (p.Asp911Tyr)
c.578G>T
c.735G>T
n.2859G>T
c.2764G>T (p.Asp922Tyr)
12g.51765858A>CCA384888272SCN8Ac.2732A>C (p.Asp911Ala)
c.579A>C
c.736A>C
n.2860A>C
c.2765A>C (p.Asp922Ala)
12g.51765858A>GCA384888273SCN8Ac.2732A>G (p.Asp911Gly)
c.579A>G
c.736A>G
n.2860A>G
c.2765A>G (p.Asp922Gly)
12g.51765858A>TCA384888275SCN8Ac.2732A>T (p.Asp911Val)
c.579A>T
c.736A>T
n.2860A>T
c.2765A>T (p.Asp922Val)
12g.51765859C>ACA384888277SCN8Ac.2733C>A (p.Asp911Glu)
c.580C>A
c.737C>A
n.2861C>A
c.2766C>A (p.Asp922Glu)
12g.51765859C=CA2036184231SCN8Ac.2733C= (p.Asp911=)
c.580C=
c.737C=
n.2861C=
c.2766C= (p.Asp922=)
12g.51765859C>GCA384888279SCN8Ac.2733C>G (p.Asp911Glu)
c.580C>G
c.737C>G
n.2861C>G
c.2766C>G (p.Asp922Glu)
12g.51765859C>TCA6571507SCN8Ac.2733C>T (p.Asp911=)
c.580C>T
c.737C>T
n.2861C>T
c.2766C>T (p.Asp922=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51765860T>ACA384888290SCN8Ac.2734T>A (p.Cys912Ser)
c.581T>A
c.738T>A
n.2862T>A
c.2767T>A (p.Cys923Ser)
12g.51765860T>CCA384888293SCN8Ac.2734T>C (p.Cys912Arg)
c.581T>C
c.738T>C
n.2862T>C
c.2767T>C (p.Cys923Arg)
12g.51765860T>GCA384888298SCN8Ac.2734T>G (p.Cys912Gly)
c.581T>G
c.738T>G
n.2862T>G
c.2767T>G (p.Cys923Gly)
 ClinVar
12g.51765861G>ACA384888302SCN8Ac.2735G>A (p.Cys912Tyr)
c.582G>A
c.739G>A
n.2863G>A
c.2768G>A (p.Cys923Tyr)
12g.51765861G>CCA384888306SCN8Ac.2735G>C (p.Cys912Ser)
c.582G>C
c.739G>C
n.2863G>C
c.2768G>C (p.Cys923Ser)
12g.51765861G>TCA384888308SCN8Ac.2735G>T (p.Cys912Phe)
c.582G>T
c.739G>T
n.2863G>T
c.2768G>T (p.Cys923Phe)
12g.51765862T>ACA384888311SCN8Ac.2736T>A (p.Cys912Ter)
c.583T>A
c.740T>A
n.2864T>A
c.2769T>A (p.Cys923Ter)
 dbSNP
12g.51765862T>CCA480061456SCN8Ac.2736T>C (p.Cys912=)
c.583T>C
c.740T>C
n.2864T>C
c.2769T>C (p.Cys923=)
12g.51765862T>GCA384888312SCN8Ac.2736T>G (p.Cys912Trp)
c.583T>G
c.740T>G
n.2864T>G
c.2769T>G (p.Cys923Trp)
12g.51765862T=CA2036184235SCN8Ac.2736T= (p.Cys912=)
c.583T=
c.740T=
n.2864T=
c.2769T= (p.Cys923=)
12g.51765863G>ACA384888316SCN8Ac.2737G>A (p.Glu913Lys)
c.584G>A
c.741G>A
n.2865G>A
c.2770G>A (p.Glu924Lys)
 COSMIC COSMIC
12g.51765863G>CCA384888321SCN8Ac.2737G>C (p.Glu913Gln)
c.584G>C
c.741G>C
n.2865G>C
c.2770G>C (p.Glu924Gln)
12g.51765863G=CA2036184238SCN8Ac.2737G= (p.Glu913=)
c.584G=
c.741G=
n.2865G=
c.2770G= (p.Glu924=)
12g.51765863G>TCA384888319SCN8Ac.2737G>T (p.Glu913Ter)
c.584G>T
c.741G>T
n.2865G>T
c.2770G>T (p.Glu924Ter)
 dbSNP
12g.51765864A>CCA384888333SCN8Ac.2738A>C (p.Glu913Ala)
c.585A>C
c.742A>C
n.2866A>C
c.2771A>C (p.Glu924Ala)
12g.51765864A>GCA384888337SCN8Ac.2738A>G (p.Glu913Gly)
c.585A>G
c.742A>G
n.2866A>G
c.2771A>G (p.Glu924Gly)
12g.51765864A>TCA384888352SCN8Ac.2738A>T (p.Glu913Val)
c.585A>T
c.742A>T
n.2866A>T
c.2771A>T (p.Glu924Val)
12g.51765865A>CCA384888356SCN8Ac.2739A>C (p.Glu913Asp)
c.586A>C
c.743A>C
n.2867A>C
c.2772A>C (p.Glu924Asp)
12g.51765865A>GCA480061459SCN8Ac.2739A>G (p.Glu913=)
c.586A>G
c.743A>G
n.2867A>G
c.2772A>G (p.Glu924=)
12g.51765865A>TCA384888357SCN8Ac.2739A>T (p.Glu913Asp)
c.586A>T
c.743A>T
n.2867A>T
c.2772A>T (p.Glu924Asp)
12g.51765866C>ACA384888359SCN8Ac.2740C>A (p.Leu914Ile)
c.587C>A
c.744C>A
n.2868C>A
c.2773C>A (p.Leu925Ile)
12g.51765866C>GCA384888362SCN8Ac.2740C>G (p.Leu914Val)
c.587C>G
c.744C>G
n.2868C>G
c.2773C>G (p.Leu925Val)
12g.51765866C>TCA384888367SCN8Ac.2740C>T (p.Leu914Phe)
c.587C>T
c.744C>T
n.2868C>T
c.2773C>T (p.Leu925Phe)
12g.51765867T>ACA384888371SCN8Ac.2741T>A (p.Leu914His)
c.588T>A
c.745T>A
n.2869T>A
c.2774T>A (p.Leu925His)
12g.51765867T>CCA384888379SCN8Ac.2741T>C (p.Leu914Pro)
c.588T>C
c.745T>C
n.2869T>C
c.2774T>C (p.Leu925Pro)
12g.51765867T>GCA384888382SCN8Ac.2741T>G (p.Leu914Arg)
c.588T>G
c.745T>G
n.2869T>G
c.2774T>G (p.Leu925Arg)
12g.51765868C>ACA480061465SCN8Ac.2742C>A (p.Leu914=)
c.589C>A
c.746C>A
n.2870C>A
c.2775C>A (p.Leu925=)
12g.51765868C>GCA480061467SCN8Ac.2742C>G (p.Leu914=)
c.589C>G
c.746C>G
n.2870C>G
c.2775C>G (p.Leu925=)
12g.51765868C>TCA480061469SCN8Ac.2742C>T (p.Leu914=)
c.589C>T
c.746C>T
n.2870C>T
c.2775C>T (p.Leu925=)
 COSMIC COSMIC
12g.51765869C>ACA384888394SCN8Ac.2743C>A (p.Pro915Thr)
c.590C>A
c.747C>A
n.2871C>A
c.2776C>A (p.Pro926Thr)
12g.51765869C>GCA384888391SCN8Ac.2743C>G (p.Pro915Ala)
c.590C>G
c.747C>G
n.2871C>G
c.2776C>G (p.Pro926Ala)
12g.51765869C>TCA384888388SCN8Ac.2743C>T (p.Pro915Ser)
c.590C>T
c.747C>T
n.2871C>T
c.2776C>T (p.Pro926Ser)
 COSMIC COSMIC
12g.51765870C>ACA384888395SCN8Ac.2744C>A (p.Pro915His)
c.591C>A
c.748C>A
n.2872C>A
c.2777C>A (p.Pro926His)
12g.51765870C>GCA384888397SCN8Ac.2744C>G (p.Pro915Arg)
c.591C>G
c.748C>G
n.2872C>G
c.2777C>G (p.Pro926Arg)
12g.51765870C>TCA384888399SCN8Ac.2744C>T (p.Pro915Leu)
c.591C>T
c.748C>T
n.2872C>T
c.2777C>T (p.Pro926Leu)
12g.51765871T>ACA480061472SCN8Ac.2745T>A (p.Pro915=)
c.592T>A
c.749T>A
n.2873T>A
c.2778T>A (p.Pro926=)
12g.51765871T>CCA480061475SCN8Ac.2745T>C (p.Pro915=)
c.592T>C
c.749T>C
n.2873T>C
c.2778T>C (p.Pro926=)
12g.51765871T>GCA480061474SCN8Ac.2745T>G (p.Pro915=)
c.592T>G
c.749T>G
n.2873T>G
c.2778T>G (p.Pro926=)
12g.51765872C>ACA384888404SCN8Ac.2746C>A (p.Arg916Ser)
c.593C>A
c.750C>A
n.2874C>A
c.2779C>A (p.Arg927Ser)
12g.51765872C>GCA384888406SCN8Ac.2746C>G (p.Arg916Gly)
c.593C>G
c.750C>G
n.2874C>G
c.2779C>G (p.Arg927Gly)
12g.51765872C>TCA384888407SCN8Ac.2746C>T (p.Arg916Cys)
c.593C>T
c.750C>T
n.2874C>T
c.2779C>T (p.Arg927Cys)
 ClinVar gnomAD v4
12g.51765873G>ACA384888408SCN8Ac.2747G>A (p.Arg916His)
c.594G>A
c.751G>A
n.2875G>A
c.2780G>A (p.Arg927His)
12g.51765873G>CCA384888410SCN8Ac.2747G>C (p.Arg916Pro)
c.594G>C
c.751G>C
n.2875G>C
c.2780G>C (p.Arg927Pro)
12g.51765873G>TCA384888415SCN8Ac.2747G>T (p.Arg916Leu)
c.594G>T
c.751G>T
n.2875G>T
c.2780G>T (p.Arg927Leu)
12g.51765874C>ACA480061478SCN8Ac.2748C>A (p.Arg916=)
c.595C>A
c.752C>A
n.2876C>A
c.2781C>A (p.Arg927=)
12g.51765874C>GCA480061479SCN8Ac.2748C>G (p.Arg916=)
c.595C>G
c.752C>G
n.2876C>G
c.2781C>G (p.Arg927=)
12g.51765874C>TCA480061480SCN8Ac.2748C>T (p.Arg916=)
c.595C>T
c.752C>T
n.2876C>T
c.2781C>T (p.Arg927=)
 gnomAD v4
12g.51765875T>ACA384888424SCN8Ac.2749T>A (p.Trp917Arg)
c.596T>A
c.753T>A
n.2877T>A
c.2782T>A (p.Trp928Arg)
12g.51765875T>CCA384888428SCN8Ac.2749T>C (p.Trp917Arg)
c.596T>C
c.753T>C
n.2877T>C
c.2782T>C (p.Trp928Arg)
12g.51765875T>GCA384888432SCN8Ac.2749T>G (p.Trp917Gly)
c.596T>G
c.753T>G
n.2877T>G
c.2782T>G (p.Trp928Gly)
12g.51765876G>ACA384888437SCN8Ac.2750G>A (p.Trp917Ter)
c.597G>A
c.754G>A
n.2878G>A
c.2783G>A (p.Trp928Ter)
12g.51765876G>CCA384888442SCN8Ac.2750G>C (p.Trp917Ser)
c.597G>C
c.754G>C
n.2878G>C
c.2783G>C (p.Trp928Ser)
12g.51765876G>TCA384888439SCN8Ac.2750G>T (p.Trp917Leu)
c.597G>T
c.754G>T
n.2878G>T
c.2783G>T (p.Trp928Leu)
12g.51765877G>ACA384888446SCN8Ac.2751G>A (p.Trp917Ter)
c.598G>A
c.755G>A
n.2879G>A
c.2784G>A (p.Trp928Ter)
 dbSNP
12g.51765877G>CCA384888451SCN8Ac.2751G>C (p.Trp917Cys)
c.598G>C
c.755G>C
n.2879G>C
c.2784G>C (p.Trp928Cys)
12g.51765877G=CA2036184241SCN8Ac.2751G= (p.Trp917=)
c.598G=
c.755G=
n.2879G=
c.2784G= (p.Trp928=)
12g.51765877G>TCA384888448SCN8Ac.2751G>T (p.Trp917Cys)
c.598G>T
c.755G>T
n.2879G>T
c.2784G>T (p.Trp928Cys)
12g.51765878C>ACA384888454SCN8Ac.2752C>A (p.His918Asn)
c.599C>A
c.756C>A
n.2880C>A
c.2785C>A (p.His929Asn)
12g.51765878C>GCA384888457SCN8Ac.2752C>G (p.His918Asp)
c.599C>G
c.756C>G
n.2880C>G
c.2785C>G (p.His929Asp)
12g.51765878C>TCA384888460SCN8Ac.2752C>T (p.His918Tyr)
c.599C>T
c.756C>T
n.2880C>T
c.2785C>T (p.His929Tyr)
12g.51765879A>CCA384888461SCN8Ac.2753A>C (p.His918Pro)
c.600A>C
c.757A>C
n.2881A>C
c.2786A>C (p.His929Pro)
12g.51765879A>GCA384888462SCN8Ac.2753A>G (p.His918Arg)
c.600A>G
c.757A>G
n.2881A>G
c.2786A>G (p.His929Arg)
 ClinVar
12g.51765879A>TCA384888463SCN8Ac.2753A>T (p.His918Leu)
c.600A>T
c.757A>T
n.2881A>T
c.2786A>T (p.His929Leu)
12g.51765880T>ACA384888467SCN8Ac.2754T>A (p.His918Gln)
c.601T>A
c.758T>A
n.2882T>A
c.2787T>A (p.His929Gln)
12g.51765880T>CCA480061485SCN8Ac.2754T>C (p.His918=)
c.601T>C
c.758T>C
n.2882T>C
c.2787T>C (p.His929=)
12g.51765880T>GCA384888473SCN8Ac.2754T>G (p.His918Gln)
c.601T>G
c.758T>G
n.2882T>G
c.2787T>G (p.His929Gln)
12g.51765881A>CCA384888481SCN8Ac.2755A>C (p.Met919Leu)
c.602A>C
c.759A>C
n.2883A>C
c.2788A>C (p.Met930Leu)
12g.51765881A>GCA384888485SCN8Ac.2755A>G (p.Met919Val)
c.602A>G
c.759A>G
n.2883A>G
c.2788A>G (p.Met930Val)
12g.51765881A>TCA384888491SCN8Ac.2755A>T (p.Met919Leu)
c.602A>T
c.759A>T
n.2883A>T
c.2788A>T (p.Met930Leu)
12g.51765882T>ACA384888502SCN8Ac.2756T>A (p.Met919Lys)
c.603T>A
c.760T>A
n.2884T>A
c.2789T>A (p.Met930Lys)
12g.51765882T>CCA384888494SCN8Ac.2756T>C (p.Met919Thr)
c.603T>C
c.760T>C
n.2884T>C
c.2789T>C (p.Met930Thr)
12g.51765882T>GCA384888497SCN8Ac.2756T>G (p.Met919Arg)
c.603T>G
c.760T>G
n.2884T>G
c.2789T>G (p.Met930Arg)
12g.51765883G>ACA384888507SCN8Ac.2757G>A (p.Met919Ile)
c.604G>A
c.761G>A
n.2885G>A
c.2790G>A (p.Met930Ile)
12g.51765883G>CCA384888511SCN8Ac.2757G>C (p.Met919Ile)
c.604G>C
c.761G>C
n.2885G>C
c.2790G>C (p.Met930Ile)
12g.51765883G>TCA384888512SCN8Ac.2757G>T (p.Met919Ile)
c.604G>T
c.761G>T
n.2885G>T
c.2790G>T (p.Met930Ile)
12g.51765884C>ACA384888533SCN8Ac.2758C>A (p.His920Asn)
c.605C>A
c.762C>A
n.2886C>A
c.2791C>A (p.His931Asn)
12g.51765884C>GCA384888538SCN8Ac.2758C>G (p.His920Asp)
c.605C>G
c.762C>G
n.2886C>G
c.2791C>G (p.His931Asp)
12g.51765884C>TCA384888544SCN8Ac.2758C>T (p.His920Tyr)
c.605C>T
c.762C>T
n.2886C>T
c.2791C>T (p.His931Tyr)

Number of alleles fetched