Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51765916T>ACA384888876SCN8Ac.2790T>A (p.Phe930Leu)
c.637T>A
c.794T>A
n.2918T>A
c.2823T>A (p.Phe941Leu)
12g.51765916T>CCA480061540SCN8Ac.2790T>C (p.Phe930=)
c.637T>C
c.794T>C
n.2918T>C
c.2823T>C (p.Phe941=)
12g.51765916T>GCA384888877SCN8Ac.2790T>G (p.Phe930Leu)
c.637T>G
c.794T>G
n.2918T>G
c.2823T>G (p.Phe941Leu)
12g.51765917C>ACA480061542SCN8Ac.2791C>A (p.Arg931=)
c.638C>A
c.795C>A
n.2919C>A
c.2824C>A (p.Arg942=)
12g.51765917C=CA2036184254SCN8Ac.2791C= (p.Arg931=)
c.638C=
c.795C=
n.2919C=
c.2824C= (p.Arg942=)
12g.51765917C>GCA384888880SCN8Ac.2791C>G (p.Arg931Gly)
c.638C>G
c.795C>G
n.2919C>G
c.2824C>G (p.Arg942Gly)
12g.51765917C>TCA384888884SCN8Ac.2791C>T (p.Arg931Ter)
c.638C>T
c.795C>T
n.2919C>T
c.2824C>T (p.Arg942Ter)
 ClinVar dbSNP COSMIC COSMIC
12g.51765918G>ACA384888889SCN8Ac.2792G>A (p.Arg931Gln)
c.639G>A
c.796G>A
n.2920G>A
c.2825G>A (p.Arg942Gln)
 ClinVar dbSNP gnomAD v4
12g.51765918G>CCA384888891SCN8Ac.2792G>C (p.Arg931Pro)
c.639G>C
c.796G>C
n.2920G>C
c.2825G>C (p.Arg942Pro)
12g.51765918G>TCA384888898SCN8Ac.2792G>T (p.Arg931Leu)
c.639G>T
c.796G>T
n.2920G>T
c.2825G>T (p.Arg942Leu)
 COSMIC COSMIC
12g.51765919A>CCA480061546SCN8Ac.2793A>C (p.Arg931=)
c.640A>C
c.797A>C
n.2921A>C
c.2826A>C (p.Arg942=)
12g.51765919A>GCA480061547SCN8Ac.2793A>G (p.Arg931=)
c.640A>G
c.797A>G
n.2921A>G
c.2826A>G (p.Arg942=)
12g.51765919A>TCA480061548SCN8Ac.2793A>T (p.Arg931=)
c.640A>T
c.797A>T
n.2921A>T
c.2826A>T (p.Arg942=)
12g.51765920G>ACA384888903SCN8Ac.2794G>A (p.Val932Met)
c.641G>A
c.798G>A
n.2922G>A
c.2827G>A (p.Val943Met)
12g.51765920G>CCA384888906SCN8Ac.2794G>C (p.Val932Leu)
c.641G>C
c.798G>C
n.2922G>C
c.2827G>C (p.Val943Leu)
12g.51765920G>TCA384888911SCN8Ac.2794G>T (p.Val932Leu)
c.641G>T
c.798G>T
n.2922G>T
c.2827G>T (p.Val943Leu)
12g.51765921T>ACA384888925SCN8Ac.2795T>A (p.Val932Glu)
c.642T>A
c.799T>A
n.2923T>A
c.2828T>A (p.Val943Glu)
12g.51765921T>CCA384888922SCN8Ac.2795T>C (p.Val932Ala)
c.642T>C
c.799T>C
n.2923T>C
c.2828T>C (p.Val943Ala)
12g.51765921T>GCA384888917SCN8Ac.2795T>G (p.Val932Gly)
c.642T>G
c.799T>G
n.2923T>G
c.2828T>G (p.Val943Gly)
12g.51765922G>ACA480061551SCN8Ac.2796G>A (p.Val932=)
c.643G>A
c.800G>A
n.2924G>A
c.2829G>A (p.Val943=)
12g.51765922G>CCA480061552SCN8Ac.2796G>C (p.Val932=)
c.643G>C
c.800G>C
n.2924G>C
c.2829G>C (p.Val943=)
12g.51765922G>TCA480061553SCN8Ac.2796G>T (p.Val932=)
c.643G>T
c.800G>T
n.2924G>T
c.2829G>T (p.Val943=)
12g.51765923T>ACA384888930SCN8Ac.2797T>A (p.Leu933Met)
c.644T>A
c.801T>A
n.2925T>A
c.2830T>A (p.Leu944Met)
12g.51765923T>CCA6571508SCN8Ac.2797T>C (p.Leu933=)
c.644T>C
c.801T>C
n.2925T>C
c.2830T>C (p.Leu944=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51765923T>GCA384888939SCN8Ac.2797T>G (p.Leu933Val)
c.644T>G
c.801T>G
n.2925T>G
c.2830T>G (p.Leu944Val)
12g.51765923T=CA2036184258SCN8Ac.2797T= (p.Leu933=)
c.644T=
c.801T=
n.2925T=
c.2830T= (p.Leu944=)
12g.51765924T>ACA384888940SCN8Ac.2798T>A (p.Leu933Ter)
c.645T>A
c.802T>A
n.2926T>A
c.2831T>A (p.Leu944Ter)
 dbSNP
12g.51765924T>CCA384888943SCN8Ac.2798T>C (p.Leu933Ser)
c.645T>C
c.802T>C
n.2926T>C
c.2831T>C (p.Leu944Ser)
12g.51765924T>GCA384888946SCN8Ac.2798T>G (p.Leu933Trp)
c.645T>G
c.802T>G
n.2926T>G
c.2831T>G (p.Leu944Trp)
12g.51765924T=CA2036184261SCN8Ac.2798T= (p.Leu933=)
c.645T=
c.802T=
n.2926T=
c.2831T= (p.Leu944=)
12g.51765925G>ACA6571509SCN8Ac.2799G>A (p.Leu933=)
c.646G>A
c.803G>A
n.2927G>A
c.2832G>A (p.Leu944=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51765925G>CCA384888954SCN8Ac.2799G>C (p.Leu933Phe)
c.646G>C
c.803G>C
n.2927G>C
c.2832G>C (p.Leu944Phe)
12g.51765925G=CA2036184266SCN8Ac.2799G= (p.Leu933=)
c.646G=
c.803G=
n.2927G=
c.2832G= (p.Leu944=)
12g.51765925G>TCA384888959SCN8Ac.2799G>T (p.Leu933Phe)
c.646G>T
c.803G>T
n.2927G>T
c.2832G>T (p.Leu944Phe)
 ClinVar dbSNP
12g.51765926T>ACA384888963SCN8Ac.2800T>A (p.Cys934Ser)
c.647T>A
c.804T>A
n.2928T>A
c.2833T>A (p.Cys945Ser)
12g.51765926T>CCA384888968SCN8Ac.2800T>C (p.Cys934Arg)
c.647T>C
c.804T>C
n.2928T>C
c.2833T>C (p.Cys945Arg)
12g.51765926T>GCA384888971SCN8Ac.2800T>G (p.Cys934Gly)
c.647T>G
c.804T>G
n.2928T>G
c.2833T>G (p.Cys945Gly)
12g.51765927G>ACA384888986SCN8Ac.2801G>A (p.Cys934Tyr)
c.648G>A
c.805G>A
n.2929G>A
c.2834G>A (p.Cys945Tyr)
12g.51765927G>CCA384888984SCN8Ac.2801G>C (p.Cys934Ser)
c.648G>C
c.805G>C
n.2929G>C
c.2834G>C (p.Cys945Ser)
12g.51765927G>TCA384888977SCN8Ac.2801G>T (p.Cys934Phe)
c.648G>T
c.805G>T
n.2929G>T
c.2834G>T (p.Cys945Phe)
12g.51765928C>ACA384888990SCN8Ac.2802C>A (p.Cys934Ter)
c.649C>A
c.806C>A
n.2930C>A
c.2835C>A (p.Cys945Ter)
 dbSNP
12g.51765928C=CA2036184270SCN8Ac.2802C= (p.Cys934=)
c.649C=
c.806C=
n.2930C=
c.2835C= (p.Cys945=)
12g.51765928C>GCA384888997SCN8Ac.2802C>G (p.Cys934Trp)
c.649C>G
c.806C>G
n.2930C>G
c.2835C>G (p.Cys945Trp)
12g.51765928C>TCA6571510SCN8Ac.2802C>T (p.Cys934=)
c.649C>T
c.806C>T
n.2930C>T
c.2835C>T (p.Cys945=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.51765929G>ACA384889017SCN8Ac.2803G>A (p.Gly935Arg)
c.650G>A
c.807G>A
n.2931G>A
c.2836G>A (p.Gly946Arg)
12g.51765929G>CCA384889022SCN8Ac.2803G>C (p.Gly935Arg)
c.650G>C
c.807G>C
n.2931G>C
c.2836G>C (p.Gly946Arg)
12g.51765929G>TCA384889037SCN8Ac.2803G>T (p.Gly935Trp)
c.650G>T
c.807G>T
n.2931G>T
c.2836G>T (p.Gly946Trp)
12g.51765930G>ACA384889048SCN8Ac.2804G>A (p.Gly935Glu)
c.651G>A
c.808G>A
n.2932G>A
c.2837G>A (p.Gly946Glu)
12g.51765930G>CCA384889054SCN8Ac.2804G>C (p.Gly935Ala)
c.651G>C
c.808G>C
n.2932G>C
c.2837G>C (p.Gly946Ala)
12g.51765930G>TCA384889056SCN8Ac.2804G>T (p.Gly935Val)
c.651G>T
c.808G>T
n.2932G>T
c.2837G>T (p.Gly946Val)
12g.51765931G>ACA480061559SCN8Ac.2805G>A (p.Gly935=)
c.652G>A
c.809G>A
n.2933G>A
c.2838G>A (p.Gly946=)
 gnomAD v4
12g.51765931G>CCA480061560SCN8Ac.2805G>C (p.Gly935=)
c.652G>C
c.809G>C
n.2933G>C
c.2838G>C (p.Gly946=)
12g.51765931G>TCA480061561SCN8Ac.2805G>T (p.Gly935=)
c.652G>T
c.809G>T
n.2933G>T
c.2838G>T (p.Gly946=)
 COSMIC COSMIC
12g.51765932G>ACA384889061SCN8Ac.2806G>A (p.Glu936Lys)
c.653G>A
c.810G>A
n.2934G>A
c.2839G>A (p.Glu947Lys)
 ClinVar dbSNP
12g.51765932G>CCA384889064SCN8Ac.2806G>C (p.Glu936Gln)
c.653G>C
c.810G>C
n.2934G>C
c.2839G>C (p.Glu947Gln)
12g.51765932G=CA2036184275SCN8Ac.2806G= (p.Glu936=)
c.653G=
c.810G=
n.2934G=
c.2839G= (p.Glu947=)
12g.51765932G>TCA384889066SCN8Ac.2806G>T (p.Glu936Ter)
c.653G>T
c.810G>T
n.2934G>T
c.2839G>T (p.Glu947Ter)
 dbSNP
12g.51765933A>CCA384889071SCN8Ac.2807A>C (p.Glu936Ala)
c.654A>C
c.811A>C
n.2935A>C
c.2840A>C (p.Glu947Ala)
12g.51765933A>GCA384889075SCN8Ac.2807A>G (p.Glu936Gly)
c.654A>G
c.811A>G
n.2935A>G
c.2840A>G (p.Glu947Gly)
12g.51765933A>TCA384889079SCN8Ac.2807A>T (p.Glu936Val)
c.654A>T
c.811A>T
n.2935A>T
c.2840A>T (p.Glu947Val)
 gnomAD v4
12g.51765934G>ACA480061563SCN8Ac.2808G>A (p.Glu936=)
c.655G>A
c.812G>A
n.2936G>A
c.2841G>A (p.Glu947=)
12g.51765934G>CCA384889090SCN8Ac.2808G>C (p.Glu936Asp)
c.655G>C
c.812G>C
n.2936G>C
c.2841G>C (p.Glu947Asp)
12g.51765934G>TCA384889085SCN8Ac.2808G>T (p.Glu936Asp)
c.655G>T
c.812G>T
n.2936G>T
c.2841G>T (p.Glu947Asp)
12g.51765935T>ACA384889096SCN8Ac.2809T>A (p.Trp937Arg)
c.656T>A
c.813T>A
n.2937T>A
c.2842T>A (p.Trp948Arg)
12g.51765935T>CCA384889103SCN8Ac.2809T>C (p.Trp937Arg)
c.656T>C
c.813T>C
n.2937T>C
c.2842T>C (p.Trp948Arg)
12g.51765935T>GCA384889109SCN8Ac.2809T>G (p.Trp937Gly)
c.656T>G
c.813T>G
n.2937T>G
c.2842T>G (p.Trp948Gly)
12g.51765936G>ACA384889114SCN8Ac.2810G>A (p.Trp937Ter)
c.657G>A
c.814G>A
n.2938G>A
c.2843G>A (p.Trp948Ter)
12g.51765936G>CCA384889116SCN8Ac.2810G>C (p.Trp937Ser)
c.657G>C
c.814G>C
n.2938G>C
c.2843G>C (p.Trp948Ser)
12g.51765936G>TCA384889126SCN8Ac.2810G>T (p.Trp937Leu)
c.657G>T
c.814G>T
n.2938G>T
c.2843G>T (p.Trp948Leu)
12g.51765937G>ACA384889130SCN8Ac.2811G>A (p.Trp937Ter)
c.658G>A
c.815G>A
n.2939G>A
c.2844G>A (p.Trp948Ter)
 dbSNP
12g.51765937G>CCA384889142SCN8Ac.2811G>C (p.Trp937Cys)
c.658G>C
c.815G>C
n.2939G>C
c.2844G>C (p.Trp948Cys)
12g.51765937G=CA2036184281SCN8Ac.2811G= (p.Trp937=)
c.658G=
c.815G=
n.2939G=
c.2844G= (p.Trp948=)
12g.51765937G>TCA384889155SCN8Ac.2811G>T (p.Trp937Cys)
c.658G>T
c.815G>T
n.2939G>T
c.2844G>T (p.Trp948Cys)
 ClinVar dbSNP
12g.51765938A>CCA384889161SCN8Ac.2812A>C (p.Ile938Leu)
c.659A>C
c.816A>C
n.2940A>C
c.2845A>C (p.Ile949Leu)
12g.51765938A>GCA384889179SCN8Ac.2812A>G (p.Ile938Val)
c.659A>G
c.816A>G
n.2940A>G
c.2845A>G (p.Ile949Val)
12g.51765938A>TCA384889181SCN8Ac.2812A>T (p.Ile938Phe)
c.659A>T
c.816A>T
n.2940A>T
c.2845A>T (p.Ile949Phe)
 ClinVar
12g.51765939T>ACA384889187SCN8Ac.2813T>A (p.Ile938Asn)
c.660T>A
c.817T>A
n.2941T>A
c.2846T>A (p.Ile949Asn)
12g.51765939T>CCA384889184SCN8Ac.2813T>C (p.Ile938Thr)
c.660T>C
c.817T>C
n.2941T>C
c.2846T>C (p.Ile949Thr)
12g.51765939T>GCA384889183SCN8Ac.2813T>G (p.Ile938Ser)
c.660T>G
c.817T>G
n.2941T>G
c.2846T>G (p.Ile949Ser)
12g.51765940T>ACA480061568SCN8Ac.2814T>A (p.Ile938=)
c.661T>A
c.818T>A
n.2942T>A
c.2847T>A (p.Ile949=)
12g.51765940T>CCA480061571SCN8Ac.2814T>C (p.Ile938=)
c.661T>C
c.818T>C
n.2942T>C
c.2847T>C (p.Ile949=)
12g.51765940T>GCA384889191SCN8Ac.2814T>G (p.Ile938Met)
c.661T>G
c.818T>G
n.2942T>G
c.2847T>G (p.Ile949Met)
12g.51765941G>ACA384889210SCN8Ac.2815G>A (p.Glu939Lys)
c.662G>A
c.819G>A
n.2943G>A
c.2848G>A (p.Glu950Lys)
12g.51765941G>CCA384889212SCN8Ac.2815G>C (p.Glu939Gln)
c.662G>C
c.819G>C
n.2943G>C
c.2848G>C (p.Glu950Gln)
 COSMIC COSMIC
12g.51765941G=CA2036184285SCN8Ac.2815G= (p.Glu939=)
c.662G=
c.819G=
n.2943G=
c.2848G= (p.Glu950=)
12g.51765941G>TCA384889215SCN8Ac.2815G>T (p.Glu939Ter)
c.662G>T
c.819G>T
n.2943G>T
c.2848G>T (p.Glu950Ter)
 dbSNP
12g.51765942A>CCA384889220SCN8Ac.2816A>C (p.Glu939Ala)
c.663A>C
c.820A>C
n.2944A>C
c.2849A>C (p.Glu950Ala)
12g.51765942A>GCA384889226SCN8Ac.2816A>G (p.Glu939Gly)
c.663A>G
c.820A>G
n.2944A>G
c.2849A>G (p.Glu950Gly)
12g.51765942A>TCA384889228SCN8Ac.2816A>T (p.Glu939Val)
c.663A>T
c.820A>T
n.2944A>T
c.2849A>T (p.Glu950Val)
12g.51765943G>ACA480061572SCN8Ac.2817G>A (p.Glu939=)
c.664G>A
c.821G>A
n.2945G>A
c.2850G>A (p.Glu950=)
12g.51765943G>CCA384889233SCN8Ac.2817G>C (p.Glu939Asp)
c.664G>C
c.821G>C
n.2945G>C
c.2850G>C (p.Glu950Asp)
12g.51765943G>TCA384889242SCN8Ac.2817G>T (p.Glu939Asp)
c.664G>T
c.821G>T
n.2945G>T
c.2850G>T (p.Glu950Asp)
12g.51765944A>CCA384889247SCN8Ac.2818A>C (p.Thr940Pro)
c.665A>C
c.822A>C
n.2946A>C
c.2851A>C (p.Thr951Pro)
12g.51765944A>GCA384889251SCN8Ac.2818A>G (p.Thr940Ala)
c.665A>G
c.822A>G
n.2946A>G
c.2851A>G (p.Thr951Ala)
12g.51765944A>TCA384889255SCN8Ac.2818A>T (p.Thr940Ser)
c.665A>T
c.822A>T
n.2946A>T
c.2851A>T (p.Thr951Ser)
12g.51765945C>ACA384889264SCN8Ac.2819C>A (p.Thr940Asn)
c.666C>A
c.823C>A
n.2947C>A
c.2852C>A (p.Thr951Asn)
12g.51765945C>GCA384889260SCN8Ac.2819C>G (p.Thr940Ser)
c.666C>G
c.823C>G
n.2947C>G
c.2852C>G (p.Thr951Ser)
12g.51765945C>TCA384889258SCN8Ac.2819C>T (p.Thr940Ile)
c.666C>T
c.823C>T
n.2947C>T
c.2852C>T (p.Thr951Ile)
12g.51765946C>ACA480061574SCN8Ac.2820C>A (p.Thr940=)
c.667C>A
c.824C>A
n.2948C>A
c.2853C>A (p.Thr951=)
12g.51765946C>GCA480061575SCN8Ac.2820C>G (p.Thr940=)
c.667C>G
c.824C>G
n.2948C>G
c.2853C>G (p.Thr951=)
12g.51765946C>TCA480061576SCN8Ac.2820C>T (p.Thr940=)
c.667C>T
c.824C>T
n.2948C>T
c.2853C>T (p.Thr951=)
12g.51765947A>CCA384889267SCN8Ac.2821A>C (p.Met941Leu)
c.668A>C
c.825A>C
n.2949A>C
c.2854A>C (p.Met952Leu)
12g.51765947A>GCA384889269SCN8Ac.2821A>G (p.Met941Val)
c.668A>G
c.825A>G
n.2949A>G
c.2854A>G (p.Met952Val)
 ClinVar
12g.51765947A>TCA384889274SCN8Ac.2821A>T (p.Met941Leu)
c.668A>T
c.825A>T
n.2949A>T
c.2854A>T (p.Met952Leu)
12g.51765948T>ACA384889278SCN8Ac.2822T>A (p.Met941Lys)
c.669T>A
c.826T>A
n.2950T>A
c.2855T>A (p.Met952Lys)
12g.51765948T>CCA384889280SCN8Ac.2822T>C (p.Met941Thr)
c.669T>C
c.826T>C
n.2950T>C
c.2855T>C (p.Met952Thr)
12g.51765948T>GCA384889283SCN8Ac.2822T>G (p.Met941Arg)
c.669T>G
c.826T>G
n.2950T>G
c.2855T>G (p.Met952Arg)
12g.51765949G>ACA384889288SCN8Ac.2823G>A (p.Met941Ile)
c.670G>A
c.827G>A
n.2951G>A
c.2856G>A (p.Met952Ile)
12g.51765949G>CCA384889291SCN8Ac.2823G>C (p.Met941Ile)
c.670G>C
c.827G>C
n.2951G>C
c.2856G>C (p.Met952Ile)
12g.51765949G>TCA384889297SCN8Ac.2823G>T (p.Met941Ile)
c.670G>T
c.827G>T
n.2951G>T
c.2856G>T (p.Met952Ile)
12g.51765950T>ACA384889300SCN8Ac.2824T>A (p.Trp942Arg)
c.671T>A
c.828T>A
n.2952T>A
c.2857T>A (p.Trp953Arg)
12g.51765950T>CCA384889314SCN8Ac.2824T>C (p.Trp942Arg)
c.671T>C
c.828T>C
n.2952T>C
c.2857T>C (p.Trp953Arg)
12g.51765950T>GCA384889317SCN8Ac.2824T>G (p.Trp942Gly)
c.671T>G
c.828T>G
n.2952T>G
c.2857T>G (p.Trp953Gly)
12g.51765950T=CA2036184288SCN8Ac.2824T= (p.Trp942=)
c.671T=
c.828T=
n.2952T=
c.2857T= (p.Trp953=)
12g.51765950_51765951insACA2573053698SCN8Ac.2824_2825insA (p.Trp942Ter)
c.671_672insA
c.828_829insA
n.2952_2953insA
c.2857_2858insA (p.Trp953Ter)
 ClinVar dbSNP
12g.51765951G>ACA384889323SCN8Ac.2825G>A (p.Trp942Ter)
c.672G>A
c.829G>A
n.2953G>A
c.2858G>A (p.Trp953Ter)
12g.51765951G>CCA384889319SCN8Ac.2825G>C (p.Trp942Ser)
c.672G>C
c.829G>C
n.2953G>C
c.2858G>C (p.Trp953Ser)
12g.51765951G>TCA384889318SCN8Ac.2825G>T (p.Trp942Leu)
c.672G>T
c.829G>T
n.2953G>T
c.2858G>T (p.Trp953Leu)
12g.51765953dupCA915948396SCN8Ac.2827dup (p.Asp943GlyfsTer?)
c.674dup
c.831dup
n.2955dup
c.2860dup (p.Asp954GlyfsTer?)
 ClinVar dbSNP
12g.51765952G>ACA384889336SCN8Ac.2826G>A (p.Trp942Ter)
c.673G>A
c.830G>A
n.2954G>A
c.2859G>A (p.Trp953Ter)
12g.51765952G>CCA384889364SCN8Ac.2826G>C (p.Trp942Cys)
c.673G>C
c.830G>C
n.2954G>C
c.2859G>C (p.Trp953Cys)
12g.51765952G>TCA384889341SCN8Ac.2826G>T (p.Trp942Cys)
c.673G>T
c.830G>T
n.2954G>T
c.2859G>T (p.Trp953Cys)
12g.51765953G>ACA384889365SCN8Ac.2827G>A (p.Asp943Asn)
c.674G>A
c.831G>A
n.2955G>A
c.2860G>A (p.Asp954Asn)
12g.51765953G>CCA384889367SCN8Ac.2827G>C (p.Asp943His)
c.674G>C
c.831G>C
n.2955G>C
c.2860G>C (p.Asp954His)
12g.51765953G>TCA384889366SCN8Ac.2827G>T (p.Asp943Tyr)
c.674G>T
c.831G>T
n.2955G>T
c.2860G>T (p.Asp954Tyr)
12g.51765954A>CCA384889368SCN8Ac.2828A>C (p.Asp943Ala)
c.675A>C
c.832A>C
n.2956A>C
c.2861A>C (p.Asp954Ala)
12g.51765954A>GCA384889370SCN8Ac.2828A>G (p.Asp943Gly)
c.675A>G
c.832A>G
n.2956A>G
c.2861A>G (p.Asp954Gly)
12g.51765954A>TCA384889369SCN8Ac.2828A>T (p.Asp943Val)
c.675A>T
c.832A>T
n.2956A>T
c.2861A>T (p.Asp954Val)
12g.51765955C>ACA384889373SCN8Ac.2829C>A (p.Asp943Glu)
c.676C>A
c.833C>A
n.2957C>A
c.2862C>A (p.Asp954Glu)
12g.51765955C>GCA384889376SCN8Ac.2829C>G (p.Asp943Glu)
c.676C>G
c.833C>G
n.2957C>G
c.2862C>G (p.Asp954Glu)
12g.51765955C>TCA480061580SCN8Ac.2829C>T (p.Asp943=)
c.676C>T
c.833C>T
n.2957C>T
c.2862C>T (p.Asp954=)
12g.51765956T>ACA384889381SCN8Ac.2830T>A (p.Cys944Ser)
c.677T>A
c.834T>A
n.2958T>A
c.2863T>A (p.Cys955Ser)
12g.51765956T>CCA384889384SCN8Ac.2830T>C (p.Cys944Arg)
c.677T>C
c.834T>C
n.2958T>C
c.2863T>C (p.Cys955Arg)
12g.51765956T>GCA384889399SCN8Ac.2830T>G (p.Cys944Gly)
c.677T>G
c.834T>G
n.2958T>G
c.2863T>G (p.Cys955Gly)
12g.51765957G>ACA384889400SCN8Ac.2831G>A (p.Cys944Tyr)
c.678G>A
c.835G>A
n.2959G>A
c.2864G>A (p.Cys955Tyr)
12g.51765957G>CCA384889401SCN8Ac.2831G>C (p.Cys944Ser)
c.678G>C
c.835G>C
n.2959G>C
c.2864G>C (p.Cys955Ser)
12g.51765957G>TCA384889402SCN8Ac.2831G>T (p.Cys944Phe)
c.678G>T
c.835G>T
n.2959G>T
c.2864G>T (p.Cys955Phe)
12g.51765958C>ACA384889403SCN8Ac.2832C>A (p.Cys944Ter)
c.679C>A
c.836C>A
n.2960C>A
c.2865C>A (p.Cys955Ter)
 dbSNP
12g.51765958C=CA2036184293SCN8Ac.2832C= (p.Cys944=)
c.679C=
c.836C=
n.2960C=
c.2865C= (p.Cys955=)
12g.51765958C>GCA384889404SCN8Ac.2832C>G (p.Cys944Trp)
c.679C>G
c.836C>G
n.2960C>G
c.2865C>G (p.Cys955Trp)
12g.51765958C>TCA480061585SCN8Ac.2832C>T (p.Cys944=)
c.679C>T
c.836C>T
n.2960C>T
c.2865C>T (p.Cys955=)
12g.51765959A>CCA384889408SCN8Ac.2833A>C (p.Met945Leu)
c.680A>C
c.837A>C
n.2961A>C
c.2866A>C (p.Met956Leu)
12g.51765959A>GCA384889410SCN8Ac.2833A>G (p.Met945Val)
c.680A>G
c.837A>G
n.2961A>G
c.2866A>G (p.Met956Val)
12g.51765959A>TCA384889416SCN8Ac.2833A>T (p.Met945Leu)
c.680A>T
c.837A>T
n.2961A>T
c.2866A>T (p.Met956Leu)
12g.51765960T>ACA384889422SCN8Ac.2834T>A (p.Met945Lys)
c.681T>A
c.838T>A
n.2962T>A
c.2867T>A (p.Met956Lys)
12g.51765960T>CCA384889418SCN8Ac.2834T>C (p.Met945Thr)
c.681T>C
c.838T>C
n.2962T>C
c.2867T>C (p.Met956Thr)
12g.51765960T>GCA384889419SCN8Ac.2834T>G (p.Met945Arg)
c.681T>G
c.838T>G
n.2962T>G
c.2867T>G (p.Met956Arg)
12g.51765961G>ACA384889425SCN8Ac.2835G>A (p.Met945Ile)
c.682G>A
c.839G>A
n.2963G>A
c.2868G>A (p.Met956Ile)
12g.51765961G>CCA384889428SCN8Ac.2835G>C (p.Met945Ile)
c.682G>C
c.839G>C
n.2963G>C
c.2868G>C (p.Met956Ile)
 ClinVar dbSNP
12g.51765961G=CA2036184297SCN8Ac.2835G= (p.Met945=)
c.682G=
c.839G=
n.2963G=
c.2868G= (p.Met956=)
12g.51765961G>TCA384889430SCN8Ac.2835G>T (p.Met945Ile)
c.682G>T
c.839G>T
n.2963G>T
c.2868G>T (p.Met956Ile)
12g.51765962G>ACA384889434SCN8Ac.2836G>A (p.Glu946Lys)
c.683G>A
c.840G>A
n.2964G>A
c.2869G>A (p.Glu957Lys)
 COSMIC COSMIC
12g.51765962G>CCA384889437SCN8Ac.2836G>C (p.Glu946Gln)
c.683G>C
c.840G>C
n.2964G>C
c.2869G>C (p.Glu957Gln)
 gnomAD v4
12g.51765962G=CA2036184300SCN8Ac.2836G= (p.Glu946=)
c.683G=
c.840G=
n.2964G=
c.2869G= (p.Glu957=)
12g.51765962G>TCA384889438SCN8Ac.2836G>T (p.Glu946Ter)
c.683G>T
c.840G>T
n.2964G>T
c.2869G>T (p.Glu957Ter)
 dbSNP
12g.51765963A=CA2036184302SCN8Ac.2837A= (p.Glu946=)
c.684A=
c.841A=
n.2965A=
c.2870A= (p.Glu957=)
12g.51765963A>CCA384889440SCN8Ac.2837A>C (p.Glu946Ala)
c.684A>C
c.841A>C
n.2965A>C
c.2870A>C (p.Glu957Ala)
 dbSNP
12g.51765963A>GCA384889442SCN8Ac.2837A>G (p.Glu946Gly)
c.684A>G
c.841A>G
n.2965A>G
c.2870A>G (p.Glu957Gly)
12g.51765963A>TCA384889446SCN8Ac.2837A>T (p.Glu946Val)
c.684A>T
c.841A>T
n.2965A>T
c.2870A>T (p.Glu957Val)
12g.51765964A>CCA384889448SCN8Ac.2838A>C (p.Glu946Asp)
c.685A>C
c.842A>C
n.2966A>C
c.2871A>C (p.Glu957Asp)
12g.51765964A>GCA480061591SCN8Ac.2838A>G (p.Glu946=)
c.685A>G
c.842A>G
n.2966A>G
c.2871A>G (p.Glu957=)
12g.51765964A>TCA384889456SCN8Ac.2838A>T (p.Glu946Asp)
c.685A>T
c.842A>T
n.2966A>T
c.2871A>T (p.Glu957Asp)
12g.51765965G>ACA384889483SCN8Ac.2839G>A (p.Val947Met)
c.686G>A
c.843G>A
n.2967G>A
c.2872G>A (p.Val958Met)
12g.51765965G>CCA384889486SCN8Ac.2839G>C (p.Val947Leu)
c.686G>C
c.843G>C
n.2967G>C
c.2872G>C (p.Val958Leu)
 gnomAD v4
12g.51765965G>TCA384889474SCN8Ac.2839G>T (p.Val947Leu)
c.686G>T
c.843G>T
n.2967G>T
c.2872G>T (p.Val958Leu)
12g.51765966T>ACA384889491SCN8Ac.2840T>A (p.Val947Glu)
c.687T>A
c.844T>A
n.2968T>A
c.2873T>A (p.Val958Glu)
12g.51765966T>CCA384889493SCN8Ac.2840T>C (p.Val947Ala)
c.687T>C
c.844T>C
n.2968T>C
c.2873T>C (p.Val958Ala)
12g.51765966T>GCA384889497SCN8Ac.2840T>G (p.Val947Gly)
c.687T>G
c.844T>G
n.2968T>G
c.2873T>G (p.Val958Gly)
12g.51765967G>ACA480061592SCN8Ac.2841G>A (p.Val947=)
c.688G>A
c.845G>A
n.2969G>A
c.2874G>A (p.Val958=)
12g.51765967G>CCA480061593SCN8Ac.2841G>C (p.Val947=)
c.688G>C
c.845G>C
n.2969G>C
c.2874G>C (p.Val958=)
12g.51765967G>TCA480061595SCN8Ac.2841G>T (p.Val947=)
c.688G>T
c.845G>T
n.2969G>T
c.2874G>T (p.Val958=)
12g.51765968G>ACA384889508SCN8Ac.2842G>A (p.Ala948Thr)
c.689G>A
c.846G>A
n.2970G>A
c.2875G>A (p.Ala959Thr)
12g.51765968G>CCA384889531SCN8Ac.2842G>C (p.Ala948Pro)
c.689G>C
c.846G>C
n.2970G>C
c.2875G>C (p.Ala959Pro)
12g.51765968G>TCA384889537SCN8Ac.2842G>T (p.Ala948Ser)
c.689G>T
c.846G>T
n.2970G>T
c.2875G>T (p.Ala959Ser)
12g.51765969C>ACA384889544SCN8Ac.2843C>A (p.Ala948Glu)
c.690C>A
c.847C>A
n.2971C>A
c.2876C>A (p.Ala959Glu)
12g.51765969C>GCA384889555SCN8Ac.2843C>G (p.Ala948Gly)
c.690C>G
c.847C>G
n.2971C>G
c.2876C>G (p.Ala959Gly)
12g.51765969C>TCA384889552SCN8Ac.2843C>T (p.Ala948Val)
c.690C>T
c.847C>T
n.2971C>T
c.2876C>T (p.Ala959Val)
12g.51765970A=CA2036184304SCN8Ac.2844A= (p.Ala948=)
c.691A=
c.848A=
n.2972A=
c.2877A= (p.Ala959=)
12g.51765970A>CCA480061597SCN8Ac.2844A>C (p.Ala948=)
c.691A>C
c.848A>C
n.2972A>C
c.2877A>C (p.Ala959=)
12g.51765970A>GCA6571511SCN8Ac.2844A>G (p.Ala948=)
c.691A>G
c.848A>G
n.2972A>G
c.2877A>G (p.Ala959=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51765970A>TCA480061598SCN8Ac.2844A>T (p.Ala948=)
c.691A>T
c.848A>T
n.2972A>T
c.2877A>T (p.Ala959=)
12g.51765971G>ACA384889575SCN8Ac.2845G>A (p.Gly949Ser)
c.692G>A
c.849G>A
n.2973G>A
c.2878G>A (p.Gly960Ser)
12g.51765971G>CCA384889579SCN8Ac.2845G>C (p.Gly949Arg)
c.692G>C
c.849G>C
n.2973G>C
c.2878G>C (p.Gly960Arg)
12g.51765971G>TCA384889587SCN8Ac.2845G>T (p.Gly949Cys)
c.692G>T
c.849G>T
n.2973G>T
c.2878G>T (p.Gly960Cys)
12g.51765972G>ACA384889597SCN8Ac.2846G>A (p.Gly949Asp)
c.693G>A
c.850G>A
n.2974G>A
c.2879G>A (p.Gly960Asp)
 gnomAD v4
12g.51765972G>CCA384889599SCN8Ac.2846G>C (p.Gly949Ala)
c.693G>C
c.850G>C
n.2974G>C
c.2879G>C (p.Gly960Ala)
12g.51765972G>TCA384889598SCN8Ac.2846G>T (p.Gly949Val)
c.693G>T
c.850G>T
n.2974G>T
c.2879G>T (p.Gly960Val)
12g.51765973C>ACA480061606SCN8Ac.2847C>A (p.Gly949=)
c.694C>A
c.851C>A
n.2975C>A
c.2880C>A (p.Gly960=)
12g.51765973C=CA2036184307SCN8Ac.2847C= (p.Gly949=)
c.694C=
c.851C=
n.2975C=
c.2880C= (p.Gly960=)
12g.51765973C>GCA480061605SCN8Ac.2847C>G (p.Gly949=)
c.694C>G
c.851C>G
n.2975C>G
c.2880C>G (p.Gly960=)
 dbSNP
12g.51765973C>TCA480061604SCN8Ac.2847C>T (p.Gly949=)
c.694C>T
c.851C>T
n.2975C>T
c.2880C>T (p.Gly960=)
12g.51765974C>ACA384889600SCN8Ac.2848C>A (p.Gln950Lys)
c.695C>A
c.852C>A
n.2976C>A
c.2881C>A (p.Gln961Lys)
12g.51765974C>GCA384889604SCN8Ac.2848C>G (p.Gln950Glu)
c.695C>G
c.852C>G
n.2976C>G
c.2881C>G (p.Gln961Glu)
12g.51765974C>TCA384889609SCN8Ac.2848C>T (p.Gln950Ter)
c.695C>T
c.852C>T
n.2976C>T
c.2881C>T (p.Gln961Ter)
12g.51765975A>CCA384889616SCN8Ac.2849A>C (p.Gln950Pro)
c.696A>C
c.853A>C
n.2977A>C
c.2882A>C (p.Gln961Pro)
12g.51765975A>GCA384889618SCN8Ac.2849A>G (p.Gln950Arg)
c.696A>G
c.853A>G
n.2977A>G
c.2882A>G (p.Gln961Arg)
12g.51765975A>TCA384889621SCN8Ac.2849A>T (p.Gln950Leu)
c.696A>T
c.853A>T
n.2977A>T
c.2882A>T (p.Gln961Leu)
12g.51765976G>ACA480061611SCN8Ac.2850G>A (p.Gln950=)
c.697G>A
c.854G>A
n.2978G>A
c.2883G>A (p.Gln961=)
12g.51765976G>CCA384889628SCN8Ac.2850G>C (p.Gln950His)
c.697G>C
c.854G>C
n.2978G>C
c.2883G>C (p.Gln961His)
12g.51765976G>TCA384889631SCN8Ac.2850G>T (p.Gln950His)
c.697G>T
c.854G>T
n.2978G>T
c.2883G>T (p.Gln961His)
12g.51765977G>ACA384889638SCN8Ac.2851G>A (p.Ala951Thr)
c.698G>A
c.855G>A
n.2979G>A
c.2884G>A (p.Ala962Thr)
12g.51765977G>CCA384889642SCN8Ac.2851G>C (p.Ala951Pro)
c.698G>C
c.855G>C
n.2979G>C
c.2884G>C (p.Ala962Pro)
12g.51765977G>TCA384889646SCN8Ac.2851G>T (p.Ala951Ser)
c.698G>T
c.855G>T
n.2979G>T
c.2884G>T (p.Ala962Ser)
12g.51765978C>ACA384889652SCN8Ac.2852C>A (p.Ala951Asp)
c.699C>A
c.856C>A
n.2980C>A
c.2885C>A (p.Ala962Asp)
12g.51765978C>GCA384889651SCN8Ac.2852C>G (p.Ala951Gly)
c.699C>G
c.856C>G
n.2980C>G
c.2885C>G (p.Ala962Gly)
12g.51765978C>TCA384889650SCN8Ac.2852C>T (p.Ala951Val)
c.699C>T
c.856C>T
n.2980C>T
c.2885C>T (p.Ala962Val)
12g.51765979C>ACA480061615SCN8Ac.2853C>A (p.Ala951=)
c.700C>A
c.857C>A
n.2981C>A
c.2886C>A (p.Ala962=)
12g.51765979C>GCA480061618SCN8Ac.2853C>G (p.Ala951=)
c.700C>G
c.857C>G
n.2981C>G
c.2886C>G (p.Ala962=)
12g.51765979C>TCA480061617SCN8Ac.2853C>T (p.Ala951=)
c.700C>T
c.857C>T
n.2981C>T
c.2886C>T (p.Ala962=)
 gnomAD v4
12g.51765980A>CCA384889656SCN8Ac.2854A>C (p.Met952Leu)
c.701A>C
c.858A>C
n.2982A>C
c.2887A>C (p.Met963Leu)
12g.51765980A>GCA384889684SCN8Ac.2854A>G (p.Met952Val)
c.701A>G
c.858A>G
n.2982A>G
c.2887A>G (p.Met963Val)
12g.51765980A>TCA384889674SCN8Ac.2854A>T (p.Met952Leu)
c.701A>T
c.858A>T
n.2982A>T
c.2887A>T (p.Met963Leu)
12g.51765981T>ACA384889698SCN8Ac.2855T>A (p.Met952Lys)
c.702T>A
c.859T>A
n.2983T>A
c.2888T>A (p.Met963Lys)
12g.51765981T>CCA384889702SCN8Ac.2855T>C (p.Met952Thr)
c.702T>C
c.859T>C
n.2983T>C
c.2888T>C (p.Met963Thr)
12g.51765981T>GCA384889705SCN8Ac.2855T>G (p.Met952Arg)
c.702T>G
c.859T>G
n.2983T>G
c.2888T>G (p.Met963Arg)
12g.51765982G>ACA384889706SCN8Ac.2856G>A (p.Met952Ile)
c.703G>A
c.860G>A
n.2984G>A
c.2889G>A (p.Met963Ile)
 ClinVar dbSNP
12g.51765982G>CCA384889707SCN8Ac.2856G>C (p.Met952Ile)
c.703G>C
c.860G>C
n.2984G>C
c.2889G>C (p.Met963Ile)
12g.51765982G>TCA384889709SCN8Ac.2856G>T (p.Met952Ile)
c.703G>T
c.860G>T
n.2984G>T
c.2889G>T (p.Met963Ile)
12g.51765983T>ACA384889711SCN8Ac.2857T>A (p.Cys953Ser)
c.704T>A
c.861T>A
n.2985T>A
c.2890T>A (p.Cys964Ser)
12g.51765983T>CCA384889713SCN8Ac.2857T>C (p.Cys953Arg)
c.704T>C
c.861T>C
n.2985T>C
c.2890T>C (p.Cys964Arg)
12g.51765983T>GCA384889715SCN8Ac.2857T>G (p.Cys953Gly)
c.704T>G
c.861T>G
n.2985T>G
c.2890T>G (p.Cys964Gly)
12g.51765984G>ACA384889721SCN8Ac.2858G>A (p.Cys953Tyr)
c.705G>A
c.862G>A
n.2986G>A
c.2891G>A (p.Cys964Tyr)
12g.51765984G>CCA384889723SCN8Ac.2858G>C (p.Cys953Ser)
c.705G>C
c.862G>C
n.2986G>C
c.2891G>C (p.Cys964Ser)
12g.51765984G>TCA384889725SCN8Ac.2858G>T (p.Cys953Phe)
c.705G>T
c.862G>T
n.2986G>T
c.2891G>T (p.Cys964Phe)
12g.51765985C>ACA384889733SCN8Ac.2859C>A (p.Cys953Ter)
c.706C>A
c.863C>A
n.2987C>A
c.2892C>A (p.Cys964Ter)
 dbSNP
12g.51765985C=CA2036184310SCN8Ac.2859C= (p.Cys953=)
c.706C=
c.863C=
n.2987C=
c.2892C= (p.Cys964=)
12g.51765985C>GCA384889738SCN8Ac.2859C>G (p.Cys953Trp)
c.706C>G
c.863C>G
n.2987C>G
c.2892C>G (p.Cys964Trp)
12g.51765985C>TCA480061623SCN8Ac.2859C>T (p.Cys953=)
c.706C>T
c.863C>T
n.2987C>T
c.2892C>T (p.Cys964=)
12g.51765986C>ACA384889739SCN8Ac.2860C>A (p.Leu954Ile)
c.707C>A
c.864C>A
n.2988C>A
c.2893C>A (p.Leu965Ile)
12g.51765986C=CA2036184313SCN8Ac.2860C= (p.Leu954=)
c.707C=
c.864C=
n.2988C=
c.2893C= (p.Leu965=)
12g.51765986C>GCA384889740SCN8Ac.2860C>G (p.Leu954Val)
c.707C>G
c.864C>G
n.2988C>G
c.2893C>G (p.Leu965Val)
 dbSNP
12g.51765986C>TCA384889741SCN8Ac.2860C>T (p.Leu954Phe)
c.707C>T
c.864C>T
n.2988C>T
c.2893C>T (p.Leu965Phe)
12g.51765987T>ACA384889745SCN8Ac.2861T>A (p.Leu954His)
c.708T>A
c.865T>A
n.2989T>A
c.2894T>A (p.Leu965His)
12g.51765987T>CCA384889749SCN8Ac.2861T>C (p.Leu954Pro)
c.708T>C
c.865T>C
n.2989T>C
c.2894T>C (p.Leu965Pro)
12g.51765987T>GCA384889763SCN8Ac.2861T>G (p.Leu954Arg)
c.708T>G
c.865T>G
n.2989T>G
c.2894T>G (p.Leu965Arg)
12g.51765988C>ACA480061629SCN8Ac.2862C>A (p.Leu954=)
c.709C>A
c.866C>A
n.2990C>A
c.2895C>A (p.Leu965=)
12g.51765988C=CA2036184316SCN8Ac.2862C= (p.Leu954=)
c.709C=
c.866C=
n.2990C=
c.2895C= (p.Leu965=)
12g.51765988C>GCA480061627SCN8Ac.2862C>G (p.Leu954=)
c.709C>G
c.866C>G
n.2990C>G
c.2895C>G (p.Leu965=)
12g.51765988C>TCA6571512SCN8Ac.2862C>T (p.Leu954=)
c.709C>T
c.866C>T
n.2990C>T
c.2895C>T (p.Leu965=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51765989A>CCA384889774SCN8Ac.2863A>C (p.Ile955Leu)
c.710A>C
c.867A>C
n.2991A>C
c.2896A>C (p.Ile966Leu)
12g.51765989A>GCA384889783SCN8Ac.2863A>G (p.Ile955Val)
c.710A>G
c.867A>G
n.2991A>G
c.2896A>G (p.Ile966Val)
 COSMIC COSMIC
12g.51765989A>TCA384889784SCN8Ac.2863A>T (p.Ile955Phe)
c.710A>T
c.867A>T
n.2991A>T
c.2896A>T (p.Ile966Phe)
 ClinVar
12g.51765990T>ACA384889800SCN8Ac.2864T>A (p.Ile955Asn)
c.711T>A
c.868T>A
n.2992T>A
c.2897T>A (p.Ile966Asn)
12g.51765990T>CCA384889801SCN8Ac.2864T>C (p.Ile955Thr)
c.711T>C
c.868T>C
n.2992T>C
c.2897T>C (p.Ile966Thr)
12g.51765990T>GCA384889799SCN8Ac.2864T>G (p.Ile955Ser)
c.711T>G
c.868T>G
n.2992T>G
c.2897T>G (p.Ile966Ser)
12g.51765991T>ACA480061630SCN8Ac.2865T>A (p.Ile955=)
c.712T>A
c.869T>A
n.2993T>A
c.2898T>A (p.Ile966=)
12g.51765991T>CCA480061632SCN8Ac.2865T>C (p.Ile955=)
c.712T>C
c.869T>C
n.2993T>C
c.2898T>C (p.Ile966=)
 gnomAD v4
12g.51765991T>GCA384889804SCN8Ac.2865T>G (p.Ile955Met)
c.712T>G
c.869T>G
n.2993T>G
c.2898T>G (p.Ile966Met)
12g.51765992G>ACA384889807SCN8Ac.2866G>A (p.Val956Ile)
c.713G>A
c.870G>A
n.2994G>A
c.2899G>A (p.Val967Ile)
12g.51765992G>CCA384889810SCN8Ac.2866G>C (p.Val956Leu)
c.713G>C
c.870G>C
n.2994G>C
c.2899G>C (p.Val967Leu)
12g.51765992G>TCA384889813SCN8Ac.2866G>T (p.Val956Phe)
c.713G>T
c.870G>T
n.2994G>T
c.2899G>T (p.Val967Phe)
 COSMIC COSMIC
12g.51765993T>ACA384889818SCN8Ac.2867T>A (p.Val956Asp)
c.714T>A
c.871T>A
n.2995T>A
c.2900T>A (p.Val967Asp)
12g.51765993T>CCA384889820SCN8Ac.2867T>C (p.Val956Ala)
c.714T>C
c.871T>C
n.2995T>C
c.2900T>C (p.Val967Ala)
12g.51765993T>GCA384889823SCN8Ac.2867T>G (p.Val956Gly)
c.714T>G
c.871T>G
n.2995T>G
c.2900T>G (p.Val967Gly)
12g.51765994C>ACA480061633SCN8Ac.2868C>A (p.Val956=)
c.715C>A
c.872C>A
n.2996C>A
c.2901C>A (p.Val967=)
12g.51765994C>GCA480061634SCN8Ac.2868C>G (p.Val956=)
c.715C>G
c.872C>G
n.2996C>G
c.2901C>G (p.Val967=)
12g.51765994C>TCA480061636SCN8Ac.2868C>T (p.Val956=)
c.715C>T
c.872C>T
n.2996C>T
c.2901C>T (p.Val967=)
12g.51765995T>ACA384889829SCN8Ac.2869T>A (p.Phe957Ile)
c.716T>A
c.873T>A
n.2997T>A
c.2902T>A (p.Phe968Ile)
12g.51765995T>CCA384889834SCN8Ac.2869T>C (p.Phe957Leu)
c.716T>C
c.873T>C
n.2997T>C
c.2902T>C (p.Phe968Leu)
12g.51765995T>GCA384889835SCN8Ac.2869T>G (p.Phe957Val)
c.716T>G
c.873T>G
n.2997T>G
c.2902T>G (p.Phe968Val)
12g.51765996T>ACA384889836SCN8Ac.2870T>A (p.Phe957Tyr)
c.717T>A
c.874T>A
n.2998T>A
c.2903T>A (p.Phe968Tyr)
12g.51765996T>CCA384889838SCN8Ac.2870T>C (p.Phe957Ser)
c.717T>C
c.874T>C
n.2998T>C
c.2903T>C (p.Phe968Ser)
12g.51765996T>GCA384889845SCN8Ac.2870T>G (p.Phe957Cys)
c.717T>G
c.874T>G
n.2998T>G
c.2903T>G (p.Phe968Cys)
12g.51765997T>ACA384889860SCN8Ac.2871T>A (p.Phe957Leu)
c.718T>A
c.875T>A
n.2999T>A
c.2904T>A (p.Phe968Leu)
12g.51765997T>CCA6571513SCN8Ac.2871T>C (p.Phe957=)
c.718T>C
c.875T>C
n.2999T>C
c.2904T>C (p.Phe968=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51765997T>GCA384889849SCN8Ac.2871T>G (p.Phe957Leu)
c.718T>G
c.875T>G
n.2999T>G
c.2904T>G (p.Phe968Leu)
12g.51765997T=CA2036184320SCN8Ac.2871T= (p.Phe957=)
c.718T=
c.875T=
n.2999T=
c.2904T= (p.Phe968=)
12g.51765998A>CCA384889865SCN8Ac.2872A>C (p.Met958Leu)
c.719A>C
c.876A>C
n.3000A>C
c.2905A>C (p.Met969Leu)
12g.51765998A>GCA384889866SCN8Ac.2872A>G (p.Met958Val)
c.719A>G
c.876A>G
n.3000A>G
c.2905A>G (p.Met969Val)
12g.51765998A>TCA384889867SCN8Ac.2872A>T (p.Met958Leu)
c.719A>T
c.876A>T
n.3000A>T
c.2905A>T (p.Met969Leu)
12g.51765999T>ACA384889870SCN8Ac.2873T>A (p.Met958Lys)
c.720T>A
c.877T>A
n.3001T>A
c.2906T>A (p.Met969Lys)
12g.51765999T>CCA384889874SCN8Ac.2873T>C (p.Met958Thr)
c.720T>C
c.877T>C
n.3001T>C
c.2906T>C (p.Met969Thr)
12g.51765999T>GCA384889883SCN8Ac.2873T>G (p.Met958Arg)
c.720T>G
c.877T>G
n.3001T>G
c.2906T>G (p.Met969Arg)
12g.51766000G>ACA384889889SCN8Ac.2874G>A (p.Met958Ile)
c.721G>A
c.878G>A
n.3002G>A
c.2907G>A (p.Met969Ile)
12g.51766000G>CCA384889891SCN8Ac.2874G>C (p.Met958Ile)
c.721G>C
c.878G>C
n.3002G>C
c.2907G>C (p.Met969Ile)
12g.51766000G>TCA384889909SCN8Ac.2874G>T (p.Met958Ile)
c.721G>T
c.878G>T
n.3002G>T
c.2907G>T (p.Met969Ile)
12g.51766001A>CCA384889918SCN8Ac.2875A>C (p.Met959Leu)
c.722A>C
c.879A>C
n.3003A>C
c.2908A>C (p.Met970Leu)
12g.51766001A>GCA384889921SCN8Ac.2875A>G (p.Met959Val)
c.722A>G
c.879A>G
n.3003A>G
c.2908A>G (p.Met970Val)
12g.51766001A>TCA384889927SCN8Ac.2875A>T (p.Met959Leu)
c.722A>T
c.879A>T
n.3003A>T
c.2908A>T (p.Met970Leu)
12g.51766002T>ACA384889939SCN8Ac.2876T>A (p.Met959Lys)
c.723T>A
c.880T>A
n.3004T>A
c.2909T>A (p.Met970Lys)
12g.51766002T>CCA384889935SCN8Ac.2876T>C (p.Met959Thr)
c.723T>C
c.880T>C
n.3004T>C
c.2909T>C (p.Met970Thr)
12g.51766002T>GCA384889932SCN8Ac.2876T>G (p.Met959Arg)
c.723T>G
c.880T>G
n.3004T>G
c.2909T>G (p.Met970Arg)
12g.51766003G>ACA384889940SCN8Ac.2877G>A (p.Met959Ile)
c.724G>A
c.881G>A
n.3005G>A
c.2910G>A (p.Met970Ile)
 ClinVar dbSNP
12g.51766003G>CCA384889947SCN8Ac.2877G>C (p.Met959Ile)
c.724G>C
c.881G>C
n.3005G>C
c.2910G>C (p.Met970Ile)
12g.51766003G>TCA384889944SCN8Ac.2877G>T (p.Met959Ile)
c.724G>T
c.881G>T
n.3005G>T
c.2910G>T (p.Met970Ile)
 gnomAD v4
12g.51766004G>ACA384889952SCN8Ac.2878G>A (p.Val960Ile)
c.725G>A
c.882G>A
n.3006G>A
c.2911G>A (p.Val971Ile)
12g.51766004G>CCA384889955SCN8Ac.2878G>C (p.Val960Leu)
c.725G>C
c.882G>C
n.3006G>C
c.2911G>C (p.Val971Leu)
12g.51766004G>TCA384889956SCN8Ac.2878G>T (p.Val960Phe)
c.725G>T
c.882G>T
n.3006G>T
c.2911G>T (p.Val971Phe)
12g.51766005T>ACA10586294SCN8Ac.2879T>A (p.Val960Asp)
c.726T>A
c.883T>A
n.3007T>A
c.2912T>A (p.Val971Asp)
 ClinVar dbSNP
12g.51766005T>CCA384889962SCN8Ac.2879T>C (p.Val960Ala)
c.726T>C
c.883T>C
n.3007T>C
c.2912T>C (p.Val971Ala)
12g.51766005T>GCA384889980SCN8Ac.2879T>G (p.Val960Gly)
c.726T>G
c.883T>G
n.3007T>G
c.2912T>G (p.Val971Gly)
12g.51766005T=CA2036184324SCN8Ac.2879T= (p.Val960=)
c.726T=
c.883T=
n.3007T=
c.2912T= (p.Val971=)
12g.51766006C>ACA479788559SCN8Ac.2880C>A (p.Val960=)
c.727C>A
c.884C>A
n.3008C>A
c.2913C>A (p.Val971=)
 gnomAD v4
12g.51766006C=CA2036184330SCN8Ac.2880C= (p.Val960=)
c.727C=
c.884C=
n.3008C=
c.2913C= (p.Val971=)
12g.51766006C>GCA479788560SCN8Ac.2880C>G (p.Val960=)
c.727C>G
c.884C>G
n.3008C>G
c.2913C>G (p.Val971=)
12g.51766006C>TCA6571514SCN8Ac.2880C>T (p.Val960=)
c.727C>T
c.884C>T
n.3008C>T
c.2913C>T (p.Val971=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51766007A=CA2036184337SCN8Ac.2881A= (p.Met961=)
c.728A=
c.885A=
n.3009A=
c.2914A= (p.Met972=)
12g.51766007A>CCA384889988SCN8Ac.2881A>C (p.Met961Leu)
c.728A>C
c.885A>C
n.3009A>C
c.2914A>C (p.Met972Leu)
12g.51766007A>GCA384889989SCN8Ac.2881A>G (p.Met961Val)
c.728A>G
c.885A>G
n.3009A>G
c.2914A>G (p.Met972Val)
 ClinVar dbSNP
12g.51766007A>TCA384889992SCN8Ac.2881A>T (p.Met961Leu)
c.728A>T
c.885A>T
n.3009A>T
c.2914A>T (p.Met972Leu)
12g.51766008T>ACA384890000SCN8Ac.2882T>A (p.Met961Lys)
c.729T>A
c.886T>A
n.3010T>A
c.2915T>A (p.Met972Lys)
12g.51766008T>CCA384890004SCN8Ac.2882T>C (p.Met961Thr)
c.729T>C
c.886T>C
n.3010T>C
c.2915T>C (p.Met972Thr)
12g.51766008T>GCA384890011SCN8Ac.2882T>G (p.Met961Arg)
c.729T>G
c.886T>G
n.3010T>G
c.2915T>G (p.Met972Arg)
12g.51766009G>ACA384890036SCN8Ac.2883G>A (p.Met961Ile)
c.730G>A
c.887G>A
n.3011G>A
c.2916G>A (p.Met972Ile)
12g.51766009G>CCA384890015SCN8Ac.2883G>C (p.Met961Ile)
c.730G>C
c.887G>C
n.3011G>C
c.2916G>C (p.Met972Ile)
12g.51766009G>TCA384890017SCN8Ac.2883G>T (p.Met961Ile)
c.730G>T
c.887G>T
n.3011G>T
c.2916G>T (p.Met972Ile)
12g.51766010G>ACA384890041SCN8Ac.2884G>A (p.Val962Met)
c.731G>A
c.888G>A
n.3012G>A
c.2917G>A (p.Val973Met)
12g.51766010G>CCA384890046SCN8Ac.2884G>C (p.Val962Leu)
c.731G>C
c.888G>C
n.3012G>C
c.2917G>C (p.Val973Leu)
12g.51766010G>TCA384890065SCN8Ac.2884G>T (p.Val962Leu)
c.731G>T
c.888G>T
n.3012G>T
c.2917G>T (p.Val973Leu)
12g.51766011T>ACA384890070SCN8Ac.2885T>A (p.Val962Glu)
c.732T>A
c.889T>A
n.3013T>A
c.2918T>A (p.Val973Glu)
12g.51766011T>CCA384890073SCN8Ac.2885T>C (p.Val962Ala)
c.732T>C
c.889T>C
n.3013T>C
c.2918T>C (p.Val973Ala)
 dbSNP gnomAD v2 gnomAD v4
12g.51766011T>GCA384890075SCN8Ac.2885T>G (p.Val962Gly)
c.732T>G
c.889T>G
n.3013T>G
c.2918T>G (p.Val973Gly)
12g.51766011T=CA2036184341SCN8Ac.2885T= (p.Val962=)
c.732T=
c.889T=
n.3013T=
c.2918T= (p.Val973=)
12g.51766012G>ACA479788570SCN8Ac.2886G>A (p.Val962=)
c.733G>A
c.890G>A
n.3014G>A
c.2919G>A (p.Val973=)
12g.51766012G>CCA479788572SCN8Ac.2886G>C (p.Val962=)
c.733G>C
c.890G>C
n.3014G>C
c.2919G>C (p.Val973=)
12g.51766012G>TCA479788574SCN8Ac.2886G>T (p.Val962=)
c.733G>T
c.890G>T
n.3014G>T
c.2919G>T (p.Val973=)
12g.51766013A>CCA384890080SCN8Ac.2887A>C (p.Ile963Leu)
c.734A>C
c.891A>C
n.3015A>C
c.2920A>C (p.Ile974Leu)
12g.51766013A>GCA384890083SCN8Ac.2887A>G (p.Ile963Val)
c.734A>G
c.891A>G
n.3015A>G
c.2920A>G (p.Ile974Val)
12g.51766013A>TCA384890087SCN8Ac.2887A>T (p.Ile963Phe)
c.734A>T
c.891A>T
n.3015A>T
c.2920A>T (p.Ile974Phe)
12g.51766014T>ACA384890091SCN8Ac.2888T>A (p.Ile963Asn)
c.735T>A
c.892T>A
n.3016T>A
c.2921T>A (p.Ile974Asn)
12g.51766014T>CCA384890095SCN8Ac.2888T>C (p.Ile963Thr)
c.735T>C
c.892T>C
n.3016T>C
c.2921T>C (p.Ile974Thr)
12g.51766014T>GCA384890098SCN8Ac.2888T>G (p.Ile963Ser)
c.735T>G
c.892T>G
n.3016T>G
c.2921T>G (p.Ile974Ser)
12g.51766015T>ACA479788578SCN8Ac.2889T>A (p.Ile963=)
c.736T>A
c.893T>A
n.3017T>A
c.2922T>A (p.Ile974=)
12g.51766015T>CCA479788579SCN8Ac.2889T>C (p.Ile963=)
c.736T>C
c.893T>C
n.3017T>C
c.2922T>C (p.Ile974=)
 dbSNP gnomAD v3 gnomAD v4
12g.51766015T>GCA384890105SCN8Ac.2889T>G (p.Ile963Met)
c.736T>G
c.893T>G
n.3017T>G
c.2922T>G (p.Ile974Met)
12g.51766015T=CA2036184346SCN8Ac.2889T= (p.Ile963=)
c.736T=
c.893T=
n.3017T=
c.2922T= (p.Ile974=)
12g.51766016G>ACA384890117SCN8Ac.2890G>A (p.Gly964Ser)
c.737G>A
c.894G>A
n.3018G>A
c.2923G>A (p.Gly975Ser)
12g.51766016G>CCA16607342SCN8Ac.2890G>C (p.Gly964Arg)
c.737G>C
c.894G>C
n.3018G>C
c.2923G>C (p.Gly975Arg)
 ClinVar dbSNP
12g.51766016G=CA2036184348SCN8Ac.2890G= (p.Gly964=)
c.737G=
c.894G=
n.3018G=
c.2923G= (p.Gly975=)
12g.51766016G>TCA384890114SCN8Ac.2890G>T (p.Gly964Cys)
c.737G>T
c.894G>T
n.3018G>T
c.2923G>T (p.Gly975Cys)

Number of alleles fetched