Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.183289411C>ACA358845711WWC2c.3160C>A (p.Leu1054Ile)
c.*2552C>A (n.*2552C>A)
c.*956C>A (n.*956C>A)
c.3232C>A (p.Leu1078Ile)
c.2206C>A (p.Leu736Ile)
c.544C>A (p.Leu182Ile)
c.3013C>A (p.Leu1005Ile)
c.2938C>A (p.Leu980Ile)
4g.183289411C=CA1518546690WWC2c.3160C= (p.Leu1054=)
c.*2552C= (n.*2552C=)
c.*956C= (n.*956C=)
c.3232C= (p.Leu1078=)
c.2206C= (p.Leu736=)
c.544C= (p.Leu182=)
c.3013C= (p.Leu1005=)
c.2938C= (p.Leu980=)
4g.183289411C>GCA358845712WWC2c.3160C>G (p.Leu1054Val)
c.*2552C>G (n.*2552C>G)
c.*956C>G (n.*956C>G)
c.3232C>G (p.Leu1078Val)
c.2206C>G (p.Leu736Val)
c.544C>G (p.Leu182Val)
c.3013C>G (p.Leu1005Val)
c.2938C>G (p.Leu980Val)
4g.183289411C>TCA358845713WWC2c.3160C>T (p.Leu1054Phe)
c.*2552C>T (n.*2552C>T)
c.*956C>T (n.*956C>T)
c.3232C>T (p.Leu1078Phe)
c.2206C>T (p.Leu736Phe)
c.544C>T (p.Leu182Phe)
c.3013C>T (p.Leu1005Phe)
c.2938C>T (p.Leu980Phe)
 dbSNP gnomAD v2 gnomAD v4
4g.183289412T>ACA358845716WWC2c.3161T>A (p.Leu1054His)
c.*2553T>A (n.*2553T>A)
c.*957T>A (n.*957T>A)
c.3233T>A (p.Leu1078His)
c.2207T>A (p.Leu736His)
c.545T>A (p.Leu182His)
c.3014T>A (p.Leu1005His)
c.2939T>A (p.Leu980His)
4g.183289412T>CCA358845714WWC2c.3161T>C (p.Leu1054Pro)
c.*2553T>C (n.*2553T>C)
c.*957T>C (n.*957T>C)
c.3233T>C (p.Leu1078Pro)
c.2207T>C (p.Leu736Pro)
c.545T>C (p.Leu182Pro)
c.3014T>C (p.Leu1005Pro)
c.2939T>C (p.Leu980Pro)
4g.183289412T>GCA358845715WWC2c.3161T>G (p.Leu1054Arg)
c.*2553T>G (n.*2553T>G)
c.*957T>G (n.*957T>G)
c.3233T>G (p.Leu1078Arg)
c.2207T>G (p.Leu736Arg)
c.545T>G (p.Leu182Arg)
c.3014T>G (p.Leu1005Arg)
c.2939T>G (p.Leu980Arg)
4g.183289413T>ACA442557512WWC2c.3162T>A (p.Leu1054=)
c.*2554T>A (n.*2554T>A)
c.*958T>A (n.*958T>A)
c.3234T>A (p.Leu1078=)
c.2208T>A (p.Leu736=)
c.546T>A (p.Leu182=)
c.3015T>A (p.Leu1005=)
c.2940T>A (p.Leu980=)
4g.183289413T>CCA442557513WWC2c.3162T>C (p.Leu1054=)
c.*2554T>C (n.*2554T>C)
c.*958T>C (n.*958T>C)
c.3234T>C (p.Leu1078=)
c.2208T>C (p.Leu736=)
c.546T>C (p.Leu182=)
c.3015T>C (p.Leu1005=)
c.2940T>C (p.Leu980=)
4g.183289413T>GCA442557511WWC2c.3162T>G (p.Leu1054=)
c.*2554T>G (n.*2554T>G)
c.*958T>G (n.*958T>G)
c.3234T>G (p.Leu1078=)
c.2208T>G (p.Leu736=)
c.546T>G (p.Leu182=)
c.3015T>G (p.Leu1005=)
c.2940T>G (p.Leu980=)
4g.183289414A>CCA442557514WWC2c.3163A>C (p.Arg1055=)
c.*2555A>C (n.*2555A>C)
c.*959A>C (n.*959A>C)
c.3235A>C (p.Arg1079=)
c.2209A>C (p.Arg737=)
c.547A>C (p.Arg183=)
c.3016A>C (p.Arg1006=)
c.2941A>C (p.Arg981=)
4g.183289414A>GCA358845717WWC2c.3163A>G (p.Arg1055Gly)
c.*2555A>G (n.*2555A>G)
c.*959A>G (n.*959A>G)
c.3235A>G (p.Arg1079Gly)
c.2209A>G (p.Arg737Gly)
c.547A>G (p.Arg183Gly)
c.3016A>G (p.Arg1006Gly)
c.2941A>G (p.Arg981Gly)
4g.183289414A>TCA358845718WWC2c.3163A>T (p.Arg1055Ter)
c.*2555A>T (n.*2555A>T)
c.*959A>T (n.*959A>T)
c.3235A>T (p.Arg1079Ter)
c.2209A>T (p.Arg737Ter)
c.547A>T (p.Arg183Ter)
c.3016A>T (p.Arg1006Ter)
c.2941A>T (p.Arg981Ter)
4g.183289415G>ACA358845719WWC2c.3164G>A (p.Arg1055Lys)
c.*2556G>A (n.*2556G>A)
c.*960G>A (n.*960G>A)
c.3236G>A (p.Arg1079Lys)
c.2210G>A (p.Arg737Lys)
c.548G>A (p.Arg183Lys)
c.3017G>A (p.Arg1006Lys)
c.2942G>A (p.Arg981Lys)
4g.183289415G>CCA358845720WWC2c.3164G>C (p.Arg1055Thr)
c.*2556G>C (n.*2556G>C)
c.*960G>C (n.*960G>C)
c.3236G>C (p.Arg1079Thr)
c.2210G>C (p.Arg737Thr)
c.548G>C (p.Arg183Thr)
c.3017G>C (p.Arg1006Thr)
c.2942G>C (p.Arg981Thr)
4g.183289415G>TCA358845721WWC2c.3164G>T (p.Arg1055Ile)
c.*2556G>T (n.*2556G>T)
c.*960G>T (n.*960G>T)
c.3236G>T (p.Arg1079Ile)
c.2210G>T (p.Arg737Ile)
c.548G>T (p.Arg183Ile)
c.3017G>T (p.Arg1006Ile)
c.2942G>T (p.Arg981Ile)
 gnomAD v4
4g.183289416A>CCA358845722WWC2c.3165A>C (p.Arg1055Ser)
c.*2557A>C (n.*2557A>C)
c.*961A>C (n.*961A>C)
c.3237A>C (p.Arg1079Ser)
c.2211A>C (p.Arg737Ser)
c.549A>C (p.Arg183Ser)
c.3018A>C (p.Arg1006Ser)
c.2943A>C (p.Arg981Ser)
4g.183289416A>GCA442557515WWC2c.3165A>G (p.Arg1055=)
c.*2557A>G (n.*2557A>G)
c.*961A>G (n.*961A>G)
c.3237A>G (p.Arg1079=)
c.2211A>G (p.Arg737=)
c.549A>G (p.Arg183=)
c.3018A>G (p.Arg1006=)
c.2943A>G (p.Arg981=)
4g.183289416A>TCA358845723WWC2c.3165A>T (p.Arg1055Ser)
c.*2557A>T (n.*2557A>T)
c.*961A>T (n.*961A>T)
c.3237A>T (p.Arg1079Ser)
c.2211A>T (p.Arg737Ser)
c.549A>T (p.Arg183Ser)
c.3018A>T (p.Arg1006Ser)
c.2943A>T (p.Arg981Ser)
4g.183289417A>CCA442557516WWC2c.3166A>C (p.Arg1056=)
c.*2558A>C (n.*2558A>C)
c.*962A>C (n.*962A>C)
c.3238A>C (p.Arg1080=)
c.2212A>C (p.Arg738=)
c.550A>C (p.Arg184=)
c.3019A>C (p.Arg1007=)
c.2944A>C (p.Arg982=)
4g.183289417A>GCA358845724WWC2c.3166A>G (p.Arg1056Gly)
c.*2558A>G (n.*2558A>G)
c.*962A>G (n.*962A>G)
c.3238A>G (p.Arg1080Gly)
c.2212A>G (p.Arg738Gly)
c.550A>G (p.Arg184Gly)
c.3019A>G (p.Arg1007Gly)
c.2944A>G (p.Arg982Gly)
 gnomAD v4
4g.183289417A>TCA358845725WWC2c.3166A>T (p.Arg1056Ter)
c.*2558A>T (n.*2558A>T)
c.*962A>T (n.*962A>T)
c.3238A>T (p.Arg1080Ter)
c.2212A>T (p.Arg738Ter)
c.550A>T (p.Arg184Ter)
c.3019A>T (p.Arg1007Ter)
c.2944A>T (p.Arg982Ter)
4g.183289418G>ACA358845726WWC2c.3167G>A (p.Arg1056Lys)
c.*2559G>A (n.*2559G>A)
c.*963G>A (n.*963G>A)
c.3239G>A (p.Arg1080Lys)
c.2213G>A (p.Arg738Lys)
c.551G>A (p.Arg184Lys)
c.3020G>A (p.Arg1007Lys)
c.2945G>A (p.Arg982Lys)
4g.183289418G>CCA358845727WWC2c.3167G>C (p.Arg1056Thr)
c.*2559G>C (n.*2559G>C)
c.*963G>C (n.*963G>C)
c.3239G>C (p.Arg1080Thr)
c.2213G>C (p.Arg738Thr)
c.551G>C (p.Arg184Thr)
c.3020G>C (p.Arg1007Thr)
c.2945G>C (p.Arg982Thr)
 dbSNP gnomAD v2 gnomAD v4
4g.183289418G=CA1518546691WWC2c.3167G= (p.Arg1056=)
c.*2559G= (n.*2559G=)
c.*963G= (n.*963G=)
c.3239G= (p.Arg1080=)
c.2213G= (p.Arg738=)
c.551G= (p.Arg184=)
c.3020G= (p.Arg1007=)
c.2945G= (p.Arg982=)
4g.183289418G>TCA358845728WWC2c.3167G>T (p.Arg1056Ile)
c.*2559G>T (n.*2559G>T)
c.*963G>T (n.*963G>T)
c.3239G>T (p.Arg1080Ile)
c.2213G>T (p.Arg738Ile)
c.551G>T (p.Arg184Ile)
c.3020G>T (p.Arg1007Ile)
c.2945G>T (p.Arg982Ile)
 gnomAD v4
4g.183289419A>CCA358845729WWC2c.3168A>C (p.Arg1056Ser)
c.*2560A>C (n.*2560A>C)
c.*964A>C (n.*964A>C)
c.3240A>C (p.Arg1080Ser)
c.2214A>C (p.Arg738Ser)
c.552A>C (p.Arg184Ser)
c.3021A>C (p.Arg1007Ser)
c.2946A>C (p.Arg982Ser)
4g.183289419A>GCA442557518WWC2c.3168A>G (p.Arg1056=)
c.*2560A>G (n.*2560A>G)
c.*964A>G (n.*964A>G)
c.3240A>G (p.Arg1080=)
c.2214A>G (p.Arg738=)
c.552A>G (p.Arg184=)
c.3021A>G (p.Arg1007=)
c.2946A>G (p.Arg982=)
4g.183289419A>TCA358845730WWC2c.3168A>T (p.Arg1056Ser)
c.*2560A>T (n.*2560A>T)
c.*964A>T (n.*964A>T)
c.3240A>T (p.Arg1080Ser)
c.2214A>T (p.Arg738Ser)
c.552A>T (p.Arg184Ser)
c.3021A>T (p.Arg1007Ser)
c.2946A>T (p.Arg982Ser)
4g.183289419_183289420insCCA2764796787WWC2c.3168_3169insC (p.Thr1057HisfsTer29)
c.*2560_*2561insC (n.*2560_*2561insC)
c.*964_*965insC (n.*964_*965insC)
c.3240_3241insC (p.Thr1081HisfsTer29)
c.2214_2215insC (p.Thr739HisfsTer29)
c.552_553insC (p.Thr185HisfsTer29)
c.3021_3022insC (p.Thr1008HisfsTer29)
c.2946_2947insC (p.Thr983HisfsTer29)
4g.183289420A>CCA358845731WWC2c.3169A>C (p.Thr1057Pro)
c.*2561A>C (n.*2561A>C)
c.*965A>C (n.*965A>C)
c.3241A>C (p.Thr1081Pro)
c.2215A>C (p.Thr739Pro)
c.553A>C (p.Thr185Pro)
c.3022A>C (p.Thr1008Pro)
c.2947A>C (p.Thr983Pro)
4g.183289420A>GCA358845733WWC2c.3169A>G (p.Thr1057Ala)
c.*2561A>G (n.*2561A>G)
c.*965A>G (n.*965A>G)
c.3241A>G (p.Thr1081Ala)
c.2215A>G (p.Thr739Ala)
c.553A>G (p.Thr185Ala)
c.3022A>G (p.Thr1008Ala)
c.2947A>G (p.Thr983Ala)
 gnomAD v4
4g.183289420A>TCA358845732WWC2c.3169A>T (p.Thr1057Ser)
c.*2561A>T (n.*2561A>T)
c.*965A>T (n.*965A>T)
c.3241A>T (p.Thr1081Ser)
c.2215A>T (p.Thr739Ser)
c.553A>T (p.Thr185Ser)
c.3022A>T (p.Thr1008Ser)
c.2947A>T (p.Thr983Ser)
4g.183289421C>ACA358845734WWC2c.3170C>A (p.Thr1057Lys)
c.*2562C>A (n.*2562C>A)
c.*966C>A (n.*966C>A)
c.3242C>A (p.Thr1081Lys)
c.2216C>A (p.Thr739Lys)
c.554C>A (p.Thr185Lys)
c.3023C>A (p.Thr1008Lys)
c.2948C>A (p.Thr983Lys)
4g.183289421C>GCA358845735WWC2c.3170C>G (p.Thr1057Arg)
c.*2562C>G (n.*2562C>G)
c.*966C>G (n.*966C>G)
c.3242C>G (p.Thr1081Arg)
c.2216C>G (p.Thr739Arg)
c.554C>G (p.Thr185Arg)
c.3023C>G (p.Thr1008Arg)
c.2948C>G (p.Thr983Arg)
4g.183289421C>TCA358845736WWC2c.3170C>T (p.Thr1057Ile)
c.*2562C>T (n.*2562C>T)
c.*966C>T (n.*966C>T)
c.3242C>T (p.Thr1081Ile)
c.2216C>T (p.Thr739Ile)
c.554C>T (p.Thr185Ile)
c.3023C>T (p.Thr1008Ile)
c.2948C>T (p.Thr983Ile)
4g.183289421_183289422insCCCA2764796788WWC2c.3170_3171insCC (p.Thr1058GlnfsTer11)
c.*2562_*2563insCC (n.*2562_*2563insCC)
c.*966_*967insCC (n.*966_*967insCC)
c.3242_3243insCC (p.Thr1082GlnfsTer11)
c.2216_2217insCC (p.Thr740GlnfsTer11)
c.554_555insCC (p.Thr186GlnfsTer11)
c.3023_3024insCC (p.Thr1009GlnfsTer11)
c.2948_2949insCC (p.Thr984GlnfsTer11)
4g.183289422A>CCA442557520WWC2c.3171A>C (p.Thr1057=)
c.*2563A>C (n.*2563A>C)
c.*967A>C (n.*967A>C)
c.3243A>C (p.Thr1081=)
c.2217A>C (p.Thr739=)
c.555A>C (p.Thr185=)
c.3024A>C (p.Thr1008=)
c.2949A>C (p.Thr983=)
4g.183289422A>GCA442557521WWC2c.3171A>G (p.Thr1057=)
c.*2563A>G (n.*2563A>G)
c.*967A>G (n.*967A>G)
c.3243A>G (p.Thr1081=)
c.2217A>G (p.Thr739=)
c.555A>G (p.Thr185=)
c.3024A>G (p.Thr1008=)
c.2949A>G (p.Thr983=)
4g.183289422A>TCA442557522WWC2c.3171A>T (p.Thr1057=)
c.*2563A>T (n.*2563A>T)
c.*967A>T (n.*967A>T)
c.3243A>T (p.Thr1081=)
c.2217A>T (p.Thr739=)
c.555A>T (p.Thr185=)
c.3024A>T (p.Thr1008=)
c.2949A>T (p.Thr983=)
4g.183289423A>CCA358845737WWC2c.3172A>C (p.Thr1058Pro)
c.*2564A>C (n.*2564A>C)
c.*968A>C (n.*968A>C)
c.3244A>C (p.Thr1082Pro)
c.2218A>C (p.Thr740Pro)
c.556A>C (p.Thr186Pro)
c.3025A>C (p.Thr1009Pro)
c.2950A>C (p.Thr984Pro)
4g.183289423A>GCA358845738WWC2c.3172A>G (p.Thr1058Ala)
c.*2564A>G (n.*2564A>G)
c.*968A>G (n.*968A>G)
c.3244A>G (p.Thr1082Ala)
c.2218A>G (p.Thr740Ala)
c.556A>G (p.Thr186Ala)
c.3025A>G (p.Thr1009Ala)
c.2950A>G (p.Thr984Ala)
4g.183289423A>TCA358845739WWC2c.3172A>T (p.Thr1058Ser)
c.*2564A>T (n.*2564A>T)
c.*968A>T (n.*968A>T)
c.3244A>T (p.Thr1082Ser)
c.2218A>T (p.Thr740Ser)
c.556A>T (p.Thr186Ser)
c.3025A>T (p.Thr1009Ser)
c.2950A>T (p.Thr984Ser)
4g.183289424C>ACA358845740WWC2c.3173C>A (p.Thr1058Lys)
c.*2565C>A (n.*2565C>A)
c.*969C>A (n.*969C>A)
c.3245C>A (p.Thr1082Lys)
c.2219C>A (p.Thr740Lys)
c.557C>A (p.Thr186Lys)
c.3026C>A (p.Thr1009Lys)
c.2951C>A (p.Thr984Lys)
4g.183289424C>GCA358845741WWC2c.3173C>G (p.Thr1058Arg)
c.*2565C>G (n.*2565C>G)
c.*969C>G (n.*969C>G)
c.3245C>G (p.Thr1082Arg)
c.2219C>G (p.Thr740Arg)
c.557C>G (p.Thr186Arg)
c.3026C>G (p.Thr1009Arg)
c.2951C>G (p.Thr984Arg)
4g.183289424C>TCA358845742WWC2c.3173C>T (p.Thr1058Ile)
c.*2565C>T (n.*2565C>T)
c.*969C>T (n.*969C>T)
c.3245C>T (p.Thr1082Ile)
c.2219C>T (p.Thr740Ile)
c.557C>T (p.Thr186Ile)
c.3026C>T (p.Thr1009Ile)
c.2951C>T (p.Thr984Ile)
4g.183289425A>CCA442557524WWC2c.3174A>C (p.Thr1058=)
c.*2566A>C (n.*2566A>C)
c.*970A>C (n.*970A>C)
c.3246A>C (p.Thr1082=)
c.2220A>C (p.Thr740=)
c.558A>C (p.Thr186=)
c.3027A>C (p.Thr1009=)
c.2952A>C (p.Thr984=)
4g.183289425A>GCA442557526WWC2c.3174A>G (p.Thr1058=)
c.*2566A>G (n.*2566A>G)
c.*970A>G (n.*970A>G)
c.3246A>G (p.Thr1082=)
c.2220A>G (p.Thr740=)
c.558A>G (p.Thr186=)
c.3027A>G (p.Thr1009=)
c.2952A>G (p.Thr984=)
4g.183289425A>TCA442557525WWC2c.3174A>T (p.Thr1058=)
c.*2566A>T (n.*2566A>T)
c.*970A>T (n.*970A>T)
c.3246A>T (p.Thr1082=)
c.2220A>T (p.Thr740=)
c.558A>T (p.Thr186=)
c.3027A>T (p.Thr1009=)
c.2952A>T (p.Thr984=)
4g.183289426C>ACA358845743WWC2c.3175C>A (p.Gln1059Lys)
c.*2567C>A (n.*2567C>A)
c.*971C>A (n.*971C>A)
c.3247C>A (p.Gln1083Lys)
c.2221C>A (p.Gln741Lys)
c.559C>A (p.Gln187Lys)
c.3028C>A (p.Gln1010Lys)
c.2953C>A (p.Gln985Lys)
 gnomAD v4
4g.183289426C>GCA358845744WWC2c.3175C>G (p.Gln1059Glu)
c.*2567C>G (n.*2567C>G)
c.*971C>G (n.*971C>G)
c.3247C>G (p.Gln1083Glu)
c.2221C>G (p.Gln741Glu)
c.559C>G (p.Gln187Glu)
c.3028C>G (p.Gln1010Glu)
c.2953C>G (p.Gln985Glu)
4g.183289426C>TCA358845745WWC2c.3175C>T (p.Gln1059Ter)
c.*2567C>T (n.*2567C>T)
c.*971C>T (n.*971C>T)
c.3247C>T (p.Gln1083Ter)
c.2221C>T (p.Gln741Ter)
c.559C>T (p.Gln187Ter)
c.3028C>T (p.Gln1010Ter)
c.2953C>T (p.Gln985Ter)
4g.183289427A=CA1518546692WWC2c.3176A= (p.Gln1059=)
c.*2568A= (n.*2568A=)
c.*972A= (n.*972A=)
c.3248A= (p.Gln1083=)
c.2222A= (p.Gln741=)
c.560A= (p.Gln187=)
c.3029A= (p.Gln1010=)
c.2954A= (p.Gln985=)
4g.183289427A>CCA358845747WWC2c.3176A>C (p.Gln1059Pro)
c.*2568A>C (n.*2568A>C)
c.*972A>C (n.*972A>C)
c.3248A>C (p.Gln1083Pro)
c.2222A>C (p.Gln741Pro)
c.560A>C (p.Gln187Pro)
c.3029A>C (p.Gln1010Pro)
c.2954A>C (p.Gln985Pro)
4g.183289427A>GCA358845749WWC2c.3176A>G (p.Gln1059Arg)
c.*2568A>G (n.*2568A>G)
c.*972A>G (n.*972A>G)
c.3248A>G (p.Gln1083Arg)
c.2222A>G (p.Gln741Arg)
c.560A>G (p.Gln187Arg)
c.3029A>G (p.Gln1010Arg)
c.2954A>G (p.Gln985Arg)
 dbSNP gnomAD v2 gnomAD v4
4g.183289427A>TCA358845746WWC2c.3176A>T (p.Gln1059Leu)
c.*2568A>T (n.*2568A>T)
c.*972A>T (n.*972A>T)
c.3248A>T (p.Gln1083Leu)
c.2222A>T (p.Gln741Leu)
c.560A>T (p.Gln187Leu)
c.3029A>T (p.Gln1010Leu)
c.2954A>T (p.Gln985Leu)
4g.183289428G>ACA442557530WWC2c.3177G>A (p.Gln1059=)
c.*2569G>A (n.*2569G>A)
c.*973G>A (n.*973G>A)
c.3249G>A (p.Gln1083=)
c.2223G>A (p.Gln741=)
c.561G>A (p.Gln187=)
c.3030G>A (p.Gln1010=)
c.2955G>A (p.Gln985=)
 gnomAD v4
4g.183289428G>CCA358845750WWC2c.3177G>C (p.Gln1059His)
c.*2569G>C (n.*2569G>C)
c.*973G>C (n.*973G>C)
c.3249G>C (p.Gln1083His)
c.2223G>C (p.Gln741His)
c.561G>C (p.Gln187His)
c.3030G>C (p.Gln1010His)
c.2955G>C (p.Gln985His)
4g.183289428G>TCA358845752WWC2c.3177G>T (p.Gln1059His)
c.*2569G>T (n.*2569G>T)
c.*973G>T (n.*973G>T)
c.3249G>T (p.Gln1083His)
c.2223G>T (p.Gln741His)
c.561G>T (p.Gln187His)
c.3030G>T (p.Gln1010His)
c.2955G>T (p.Gln985His)
4g.183289429G>ACA358845753WWC2c.3178G>A (p.Glu1060Lys)
c.*2570G>A (n.*2570G>A)
c.*974G>A (n.*974G>A)
c.3250G>A (p.Glu1084Lys)
c.2224G>A (p.Glu742Lys)
c.562G>A (p.Glu188Lys)
c.3031G>A (p.Glu1011Lys)
c.2956G>A (p.Glu986Lys)
 gnomAD v4
4g.183289429G>CCA358845754WWC2c.3178G>C (p.Glu1060Gln)
c.*2570G>C (n.*2570G>C)
c.*974G>C (n.*974G>C)
c.3250G>C (p.Glu1084Gln)
c.2224G>C (p.Glu742Gln)
c.562G>C (p.Glu188Gln)
c.3031G>C (p.Glu1011Gln)
c.2956G>C (p.Glu986Gln)
4g.183289429G>TCA358845756WWC2c.3178G>T (p.Glu1060Ter)
c.*2570G>T (n.*2570G>T)
c.*974G>T (n.*974G>T)
c.3250G>T (p.Glu1084Ter)
c.2224G>T (p.Glu742Ter)
c.562G>T (p.Glu188Ter)
c.3031G>T (p.Glu1011Ter)
c.2956G>T (p.Glu986Ter)
4g.183289430A>CCA358845762WWC2c.3179A>C (p.Glu1060Ala)
c.*2571A>C (n.*2571A>C)
c.*975A>C (n.*975A>C)
c.3251A>C (p.Glu1084Ala)
c.2225A>C (p.Glu742Ala)
c.563A>C (p.Glu188Ala)
c.3032A>C (p.Glu1011Ala)
c.2957A>C (p.Glu986Ala)
4g.183289430A>GCA358845758WWC2c.3179A>G (p.Glu1060Gly)
c.*2571A>G (n.*2571A>G)
c.*975A>G (n.*975A>G)
c.3251A>G (p.Glu1084Gly)
c.2225A>G (p.Glu742Gly)
c.563A>G (p.Glu188Gly)
c.3032A>G (p.Glu1011Gly)
c.2957A>G (p.Glu986Gly)
4g.183289430A>TCA358845760WWC2c.3179A>T (p.Glu1060Val)
c.*2571A>T (n.*2571A>T)
c.*975A>T (n.*975A>T)
c.3251A>T (p.Glu1084Val)
c.2225A>T (p.Glu742Val)
c.563A>T (p.Glu188Val)
c.3032A>T (p.Glu1011Val)
c.2957A>T (p.Glu986Val)
4g.183289431A=CA1518546693WWC2c.3180A= (p.Glu1060=)
c.*2572A= (n.*2572A=)
c.*976A= (n.*976A=)
c.3252A= (p.Glu1084=)
c.2226A= (p.Glu742=)
c.564A= (p.Glu188=)
c.3033A= (p.Glu1011=)
c.2958A= (p.Glu986=)
4g.183289431A>CCA358845764WWC2c.3180A>C (p.Glu1060Asp)
c.*2572A>C (n.*2572A>C)
c.*976A>C (n.*976A>C)
c.3252A>C (p.Glu1084Asp)
c.2226A>C (p.Glu742Asp)
c.564A>C (p.Glu188Asp)
c.3033A>C (p.Glu1011Asp)
c.2958A>C (p.Glu986Asp)
 gnomAD v4
4g.183289431A>GCA442557532WWC2c.3180A>G (p.Glu1060=)
c.*2572A>G (n.*2572A>G)
c.*976A>G (n.*976A>G)
c.3252A>G (p.Glu1084=)
c.2226A>G (p.Glu742=)
c.564A>G (p.Glu188=)
c.3033A>G (p.Glu1011=)
c.2958A>G (p.Glu986=)
 dbSNP gnomAD v2 gnomAD v4
4g.183289431A>TCA358845765WWC2c.3180A>T (p.Glu1060Asp)
c.*2572A>T (n.*2572A>T)
c.*976A>T (n.*976A>T)
c.3252A>T (p.Glu1084Asp)
c.2226A>T (p.Glu742Asp)
c.564A>T (p.Glu188Asp)
c.3033A>T (p.Glu1011Asp)
c.2958A>T (p.Glu986Asp)
4g.183289432T>ACA358845768WWC2c.3181T>A (p.Cys1061Ser)
c.*2573T>A (n.*2573T>A)
c.*977T>A (n.*977T>A)
c.3253T>A (p.Cys1085Ser)
c.2227T>A (p.Cys743Ser)
c.565T>A (p.Cys189Ser)
c.3034T>A (p.Cys1012Ser)
c.2959T>A (p.Cys987Ser)
4g.183289432T>CCA358845770WWC2c.3181T>C (p.Cys1061Arg)
c.*2573T>C (n.*2573T>C)
c.*977T>C (n.*977T>C)
c.3253T>C (p.Cys1085Arg)
c.2227T>C (p.Cys743Arg)
c.565T>C (p.Cys189Arg)
c.3034T>C (p.Cys1012Arg)
c.2959T>C (p.Cys987Arg)
 gnomAD v4
4g.183289432T>GCA358845772WWC2c.3181T>G (p.Cys1061Gly)
c.*2573T>G (n.*2573T>G)
c.*977T>G (n.*977T>G)
c.3253T>G (p.Cys1085Gly)
c.2227T>G (p.Cys743Gly)
c.565T>G (p.Cys189Gly)
c.3034T>G (p.Cys1012Gly)
c.2959T>G (p.Cys987Gly)
4g.183289433G>ACA358845775WWC2c.3182G>A (p.Cys1061Tyr)
c.*2574G>A (n.*2574G>A)
c.*978G>A (n.*978G>A)
c.3254G>A (p.Cys1085Tyr)
c.2228G>A (p.Cys743Tyr)
c.566G>A (p.Cys189Tyr)
c.3035G>A (p.Cys1012Tyr)
c.2960G>A (p.Cys987Tyr)
4g.183289433G>CCA358845779WWC2c.3182G>C (p.Cys1061Ser)
c.*2574G>C (n.*2574G>C)
c.*978G>C (n.*978G>C)
c.3254G>C (p.Cys1085Ser)
c.2228G>C (p.Cys743Ser)
c.566G>C (p.Cys189Ser)
c.3035G>C (p.Cys1012Ser)
c.2960G>C (p.Cys987Ser)
 gnomAD v4
4g.183289433G>TCA358845776WWC2c.3182G>T (p.Cys1061Phe)
c.*2574G>T (n.*2574G>T)
c.*978G>T (n.*978G>T)
c.3254G>T (p.Cys1085Phe)
c.2228G>T (p.Cys743Phe)
c.566G>T (p.Cys189Phe)
c.3035G>T (p.Cys1012Phe)
c.2960G>T (p.Cys987Phe)
4g.183289434C>ACA358845781WWC2c.3183C>A (p.Cys1061Ter)
c.*2575C>A (n.*2575C>A)
c.*979C>A (n.*979C>A)
c.3255C>A (p.Cys1085Ter)
c.2229C>A (p.Cys743Ter)
c.567C>A (p.Cys189Ter)
c.3036C>A (p.Cys1012Ter)
c.2961C>A (p.Cys987Ter)
4g.183289434C>GCA358845782WWC2c.3183C>G (p.Cys1061Trp)
c.*2575C>G (n.*2575C>G)
c.*979C>G (n.*979C>G)
c.3255C>G (p.Cys1085Trp)
c.2229C>G (p.Cys743Trp)
c.567C>G (p.Cys189Trp)
c.3036C>G (p.Cys1012Trp)
c.2961C>G (p.Cys987Trp)
4g.183289434C>TCA442557536WWC2c.3183C>T (p.Cys1061=)
c.*2575C>T (n.*2575C>T)
c.*979C>T (n.*979C>T)
c.3255C>T (p.Cys1085=)
c.2229C>T (p.Cys743=)
c.567C>T (p.Cys189=)
c.3036C>T (p.Cys1012=)
c.2961C>T (p.Cys987=)
 gnomAD v4
4g.183289435C>ACA358845785WWC2c.3184C>A (p.Pro1062Thr)
c.*2576C>A (n.*2576C>A)
c.*980C>A (n.*980C>A)
c.3256C>A (p.Pro1086Thr)
c.2230C>A (p.Pro744Thr)
c.568C>A (p.Pro190Thr)
c.3037C>A (p.Pro1013Thr)
c.2962C>A (p.Pro988Thr)
4g.183289435C=CA1518546694WWC2c.3184C= (p.Pro1062=)
c.*2576C= (n.*2576C=)
c.*980C= (n.*980C=)
c.3256C= (p.Pro1086=)
c.2230C= (p.Pro744=)
c.568C= (p.Pro190=)
c.3037C= (p.Pro1013=)
c.2962C= (p.Pro988=)
4g.183289435C>GCA3150293WWC2c.3184C>G (p.Pro1062Ala)
c.*2576C>G (n.*2576C>G)
c.*980C>G (n.*980C>G)
c.3256C>G (p.Pro1086Ala)
c.2230C>G (p.Pro744Ala)
c.568C>G (p.Pro190Ala)
c.3037C>G (p.Pro1013Ala)
c.2962C>G (p.Pro988Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.183289435C>TCA358845788WWC2c.3184C>T (p.Pro1062Ser)
c.*2576C>T (n.*2576C>T)
c.*980C>T (n.*980C>T)
c.3256C>T (p.Pro1086Ser)
c.2230C>T (p.Pro744Ser)
c.568C>T (p.Pro190Ser)
c.3037C>T (p.Pro1013Ser)
c.2962C>T (p.Pro988Ser)
 dbSNP gnomAD v4
4g.183289436C>ACA358845790WWC2c.3185C>A (p.Pro1062Gln)
c.*2577C>A (n.*2577C>A)
c.*981C>A (n.*981C>A)
c.3257C>A (p.Pro1086Gln)
c.2231C>A (p.Pro744Gln)
c.569C>A (p.Pro190Gln)
c.3038C>A (p.Pro1013Gln)
c.2963C>A (p.Pro988Gln)
 dbSNP
4g.183289436C=CA1518546695WWC2c.3185C= (p.Pro1062=)
c.*2577C= (n.*2577C=)
c.*981C= (n.*981C=)
c.3257C= (p.Pro1086=)
c.2231C= (p.Pro744=)
c.569C= (p.Pro190=)
c.3038C= (p.Pro1013=)
c.2963C= (p.Pro988=)
4g.183289436C>GCA3150294WWC2c.3185C>G (p.Pro1062Arg)
c.*2577C>G (n.*2577C>G)
c.*981C>G (n.*981C>G)
c.3257C>G (p.Pro1086Arg)
c.2231C>G (p.Pro744Arg)
c.569C>G (p.Pro190Arg)
c.3038C>G (p.Pro1013Arg)
c.2963C>G (p.Pro988Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.183289436C>TCA358845792WWC2c.3185C>T (p.Pro1062Leu)
c.*2577C>T (n.*2577C>T)
c.*981C>T (n.*981C>T)
c.3257C>T (p.Pro1086Leu)
c.2231C>T (p.Pro744Leu)
c.569C>T (p.Pro190Leu)
c.3038C>T (p.Pro1013Leu)
c.2963C>T (p.Pro988Leu)
 gnomAD v4
4g.183289437A=CA1518546696WWC2c.3186A= (p.Pro1062=)
c.*2578A= (n.*2578A=)
c.*982A= (n.*982A=)
c.3258A= (p.Pro1086=)
c.2232A= (p.Pro744=)
c.570A= (p.Pro190=)
c.3039A= (p.Pro1013=)
c.2964A= (p.Pro988=)
4g.183289437A>CCA442557538WWC2c.3186A>C (p.Pro1062=)
c.*2578A>C (n.*2578A>C)
c.*982A>C (n.*982A>C)
c.3258A>C (p.Pro1086=)
c.2232A>C (p.Pro744=)
c.570A>C (p.Pro190=)
c.3039A>C (p.Pro1013=)
c.2964A>C (p.Pro988=)
4g.183289437A>GCA3150295WWC2c.3186A>G (p.Pro1062=)
c.*2578A>G (n.*2578A>G)
c.*982A>G (n.*982A>G)
c.3258A>G (p.Pro1086=)
c.2232A>G (p.Pro744=)
c.570A>G (p.Pro190=)
c.3039A>G (p.Pro1013=)
c.2964A>G (p.Pro988=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.183289437A>TCA442557539WWC2c.3186A>T (p.Pro1062=)
c.*2578A>T (n.*2578A>T)
c.*982A>T (n.*982A>T)
c.3258A>T (p.Pro1086=)
c.2232A>T (p.Pro744=)
c.570A>T (p.Pro190=)
c.3039A>T (p.Pro1013=)
c.2964A>T (p.Pro988=)
4g.183289438G>ACA358845795WWC2c.3187G>A (p.Val1063Met)
c.*2579G>A (n.*2579G>A)
c.*983G>A (n.*983G>A)
c.3259G>A (p.Val1087Met)
c.2233G>A (p.Val745Met)
c.571G>A (p.Val191Met)
c.3040G>A (p.Val1014Met)
c.2965G>A (p.Val989Met)
 dbSNP gnomAD v2
4g.183289438G>CCA358845797WWC2c.3187G>C (p.Val1063Leu)
c.*2579G>C (n.*2579G>C)
c.*983G>C (n.*983G>C)
c.3259G>C (p.Val1087Leu)
c.2233G>C (p.Val745Leu)
c.571G>C (p.Val191Leu)
c.3040G>C (p.Val1014Leu)
c.2965G>C (p.Val989Leu)
4g.183289438G=CA1518546697WWC2c.3187G= (p.Val1063=)
c.*2579G= (n.*2579G=)
c.*983G= (n.*983G=)
c.3259G= (p.Val1087=)
c.2233G= (p.Val745=)
c.571G= (p.Val191=)
c.3040G= (p.Val1014=)
c.2965G= (p.Val989=)
4g.183289438G>TCA358845799WWC2c.3187G>T (p.Val1063Leu)
c.*2579G>T (n.*2579G>T)
c.*983G>T (n.*983G>T)
c.3259G>T (p.Val1087Leu)
c.2233G>T (p.Val745Leu)
c.571G>T (p.Val191Leu)
c.3040G>T (p.Val1014Leu)
c.2965G>T (p.Val989Leu)
4g.183289439T>ACA358845801WWC2c.3188T>A (p.Val1063Glu)
c.*2580T>A (n.*2580T>A)
c.*984T>A (n.*984T>A)
c.3260T>A (p.Val1087Glu)
c.2234T>A (p.Val745Glu)
c.572T>A (p.Val191Glu)
c.3041T>A (p.Val1014Glu)
c.2966T>A (p.Val989Glu)
4g.183289439T>CCA358845803WWC2c.3188T>C (p.Val1063Ala)
c.*2580T>C (n.*2580T>C)
c.*984T>C (n.*984T>C)
c.3260T>C (p.Val1087Ala)
c.2234T>C (p.Val745Ala)
c.572T>C (p.Val191Ala)
c.3041T>C (p.Val1014Ala)
c.2966T>C (p.Val989Ala)
4g.183289439T>GCA358845805WWC2c.3188T>G (p.Val1063Gly)
c.*2580T>G (n.*2580T>G)
c.*984T>G (n.*984T>G)
c.3260T>G (p.Val1087Gly)
c.2234T>G (p.Val745Gly)
c.572T>G (p.Val191Gly)
c.3041T>G (p.Val1014Gly)
c.2966T>G (p.Val989Gly)
 gnomAD v4
4g.183289440G>ACA442557543WWC2c.3189G>A (p.Val1063=)
c.*2581G>A (n.*2581G>A)
c.*985G>A (n.*985G>A)
c.3261G>A (p.Val1087=)
c.2235G>A (p.Val745=)
c.573G>A (p.Val191=)
c.3042G>A (p.Val1014=)
c.2967G>A (p.Val989=)
 gnomAD v4
4g.183289440G>CCA442557544WWC2c.3189G>C (p.Val1063=)
c.*2581G>C (n.*2581G>C)
c.*985G>C (n.*985G>C)
c.3261G>C (p.Val1087=)
c.2235G>C (p.Val745=)
c.573G>C (p.Val191=)
c.3042G>C (p.Val1014=)
c.2967G>C (p.Val989=)
4g.183289440G>TCA442557545WWC2c.3189G>T (p.Val1063=)
c.*2581G>T (n.*2581G>T)
c.*985G>T (n.*985G>T)
c.3261G>T (p.Val1087=)
c.2235G>T (p.Val745=)
c.573G>T (p.Val191=)
c.3042G>T (p.Val1014=)
c.2967G>T (p.Val989=)
4g.183289441C>ACA442557546WWC2c.3190C>A (p.Arg1064=)
c.*2582C>A (n.*2582C>A)
c.*986C>A (n.*986C>A)
c.3262C>A (p.Arg1088=)
c.2236C>A (p.Arg746=)
c.574C>A (p.Arg192=)
c.3043C>A (p.Arg1015=)
c.2968C>A (p.Arg990=)
4g.183289441C=CA1518546698WWC2c.3190C= (p.Arg1064=)
c.*2582C= (n.*2582C=)
c.*986C= (n.*986C=)
c.3262C= (p.Arg1088=)
c.2236C= (p.Arg746=)
c.574C= (p.Arg192=)
c.3043C= (p.Arg1015=)
c.2968C= (p.Arg990=)
4g.183289441C>GCA358845807WWC2c.3190C>G (p.Arg1064Gly)
c.*2582C>G (n.*2582C>G)
c.*986C>G (n.*986C>G)
c.3262C>G (p.Arg1088Gly)
c.2236C>G (p.Arg746Gly)
c.574C>G (p.Arg192Gly)
c.3043C>G (p.Arg1015Gly)
c.2968C>G (p.Arg990Gly)
4g.183289441C>TCA3150296WWC2c.3190C>T (p.Arg1064Trp)
c.*2582C>T (n.*2582C>T)
c.*986C>T (n.*986C>T)
c.3262C>T (p.Arg1088Trp)
c.2236C>T (p.Arg746Trp)
c.574C>T (p.Arg192Trp)
c.3043C>T (p.Arg1015Trp)
c.2968C>T (p.Arg990Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.183289442G>ACA3150297WWC2c.3191G>A (p.Arg1064Gln)
c.*2583G>A (n.*2583G>A)
c.*987G>A (n.*987G>A)
c.3263G>A (p.Arg1088Gln)
c.2237G>A (p.Arg746Gln)
c.575G>A (p.Arg192Gln)
c.3044G>A (p.Arg1015Gln)
c.2969G>A (p.Arg990Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.183289442G>CCA358845810WWC2c.3191G>C (p.Arg1064Pro)
c.*2583G>C (n.*2583G>C)
c.*987G>C (n.*987G>C)
c.3263G>C (p.Arg1088Pro)
c.2237G>C (p.Arg746Pro)
c.575G>C (p.Arg192Pro)
c.3044G>C (p.Arg1015Pro)
c.2969G>C (p.Arg990Pro)
4g.183289442G=CA1518546699WWC2c.3191G= (p.Arg1064=)
c.*2583G= (n.*2583G=)
c.*987G= (n.*987G=)
c.3263G= (p.Arg1088=)
c.2237G= (p.Arg746=)
c.575G= (p.Arg192=)
c.3044G= (p.Arg1015=)
c.2969G= (p.Arg990=)
4g.183289442G>TCA358845812WWC2c.3191G>T (p.Arg1064Leu)
c.*2583G>T (n.*2583G>T)
c.*987G>T (n.*987G>T)
c.3263G>T (p.Arg1088Leu)
c.2237G>T (p.Arg746Leu)
c.575G>T (p.Arg192Leu)
c.3044G>T (p.Arg1015Leu)
c.2969G>T (p.Arg990Leu)
4g.183289443G>ACA442557547WWC2c.3192G>A (p.Arg1064=)
c.*2584G>A (n.*2584G>A)
c.*988G>A (n.*988G>A)
c.3264G>A (p.Arg1088=)
c.2238G>A (p.Arg746=)
c.576G>A (p.Arg192=)
c.3045G>A (p.Arg1015=)
c.2970G>A (p.Arg990=)
 dbSNP gnomAD v3 gnomAD v4
4g.183289443G>CCA442557548WWC2c.3192G>C (p.Arg1064=)
c.*2584G>C (n.*2584G>C)
c.*988G>C (n.*988G>C)
c.3264G>C (p.Arg1088=)
c.2238G>C (p.Arg746=)
c.576G>C (p.Arg192=)
c.3045G>C (p.Arg1015=)
c.2970G>C (p.Arg990=)
4g.183289443G=CA1518546700WWC2c.3192G= (p.Arg1064=)
c.*2584G= (n.*2584G=)
c.*988G= (n.*988G=)
c.3264G= (p.Arg1088=)
c.2238G= (p.Arg746=)
c.576G= (p.Arg192=)
c.3045G= (p.Arg1015=)
c.2970G= (p.Arg990=)
4g.183289443G>TCA442557549WWC2c.3192G>T (p.Arg1064=)
c.*2584G>T (n.*2584G>T)
c.*988G>T (n.*988G>T)
c.3264G>T (p.Arg1088=)
c.2238G>T (p.Arg746=)
c.576G>T (p.Arg192=)
c.3045G>T (p.Arg1015=)
c.2970G>T (p.Arg990=)
 dbSNP
4g.183289444A>CCA358845813WWC2c.3193A>C (p.Thr1065Pro)
c.*2585A>C (n.*2585A>C)
c.*989A>C (n.*989A>C)
c.3265A>C (p.Thr1089Pro)
c.2239A>C (p.Thr747Pro)
c.577A>C (p.Thr193Pro)
c.3046A>C (p.Thr1016Pro)
c.2971A>C (p.Thr991Pro)
4g.183289444A>GCA358845815WWC2c.3193A>G (p.Thr1065Ala)
c.*2585A>G (n.*2585A>G)
c.*989A>G (n.*989A>G)
c.3265A>G (p.Thr1089Ala)
c.2239A>G (p.Thr747Ala)
c.577A>G (p.Thr193Ala)
c.3046A>G (p.Thr1016Ala)
c.2971A>G (p.Thr991Ala)
 gnomAD v4
4g.183289444A>TCA358845816WWC2c.3193A>T (p.Thr1065Ser)
c.*2585A>T (n.*2585A>T)
c.*989A>T (n.*989A>T)
c.3265A>T (p.Thr1089Ser)
c.2239A>T (p.Thr747Ser)
c.577A>T (p.Thr193Ser)
c.3046A>T (p.Thr1016Ser)
c.2971A>T (p.Thr991Ser)
4g.183289445C>ACA358845818WWC2c.3194C>A (p.Thr1065Lys)
c.*2586C>A (n.*2586C>A)
c.*990C>A (n.*990C>A)
c.3266C>A (p.Thr1089Lys)
c.2240C>A (p.Thr747Lys)
c.578C>A (p.Thr193Lys)
c.3047C>A (p.Thr1016Lys)
c.2972C>A (p.Thr991Lys)
4g.183289445C>GCA358845819WWC2c.3194C>G (p.Thr1065Arg)
c.*2586C>G (n.*2586C>G)
c.*990C>G (n.*990C>G)
c.3266C>G (p.Thr1089Arg)
c.2240C>G (p.Thr747Arg)
c.578C>G (p.Thr193Arg)
c.3047C>G (p.Thr1016Arg)
c.2972C>G (p.Thr991Arg)
4g.183289445C>TCA358845821WWC2c.3194C>T (p.Thr1065Ile)
c.*2586C>T (n.*2586C>T)
c.*990C>T (n.*990C>T)
c.3266C>T (p.Thr1089Ile)
c.2240C>T (p.Thr747Ile)
c.578C>T (p.Thr193Ile)
c.3047C>T (p.Thr1016Ile)
c.2972C>T (p.Thr991Ile)
4g.183289446A=CA1518546701WWC2c.3195A= (p.Thr1065=)
c.*2587A= (n.*2587A=)
c.*991A= (n.*991A=)
c.3267A= (p.Thr1089=)
c.2241A= (p.Thr747=)
c.579A= (p.Thr193=)
c.3048A= (p.Thr1016=)
c.2973A= (p.Thr991=)
4g.183289446A>CCA3150299WWC2c.3195A>C (p.Thr1065=)
c.*2587A>C (n.*2587A>C)
c.*991A>C (n.*991A>C)
c.3267A>C (p.Thr1089=)
c.2241A>C (p.Thr747=)
c.579A>C (p.Thr193=)
c.3048A>C (p.Thr1016=)
c.2973A>C (p.Thr991=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.183289446A>GCA3150298WWC2c.3195A>G (p.Thr1065=)
c.*2587A>G (n.*2587A>G)
c.*991A>G (n.*991A>G)
c.3267A>G (p.Thr1089=)
c.2241A>G (p.Thr747=)
c.579A>G (p.Thr193=)
c.3048A>G (p.Thr1016=)
c.2973A>G (p.Thr991=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.183289446A>TCA442557550WWC2c.3195A>T (p.Thr1065=)
c.*2587A>T (n.*2587A>T)
c.*991A>T (n.*991A>T)
c.3267A>T (p.Thr1089=)
c.2241A>T (p.Thr747=)
c.579A>T (p.Thr193=)
c.3048A>T (p.Thr1016=)
c.2973A>T (p.Thr991=)
4g.183289447T>ACA358845826WWC2c.3196T>A (p.Ser1066Thr)
c.*2588T>A (n.*2588T>A)
c.*992T>A (n.*992T>A)
c.3268T>A (p.Ser1090Thr)
c.2242T>A (p.Ser748Thr)
c.580T>A (p.Ser194Thr)
c.3049T>A (p.Ser1017Thr)
c.2974T>A (p.Ser992Thr)
4g.183289447T>CCA358845827WWC2c.3196T>C (p.Ser1066Pro)
c.*2588T>C (n.*2588T>C)
c.*992T>C (n.*992T>C)
c.3268T>C (p.Ser1090Pro)
c.2242T>C (p.Ser748Pro)
c.580T>C (p.Ser194Pro)
c.3049T>C (p.Ser1017Pro)
c.2974T>C (p.Ser992Pro)
4g.183289447T>GCA358845825WWC2c.3196T>G (p.Ser1066Ala)
c.*2588T>G (n.*2588T>G)
c.*992T>G (n.*992T>G)
c.3268T>G (p.Ser1090Ala)
c.2242T>G (p.Ser748Ala)
c.580T>G (p.Ser194Ala)
c.3049T>G (p.Ser1017Ala)
c.2974T>G (p.Ser992Ala)
4g.183289448C>ACA358845829WWC2c.3197C>A (p.Ser1066Tyr)
c.*2589C>A (n.*2589C>A)
c.*993C>A (n.*993C>A)
c.3269C>A (p.Ser1090Tyr)
c.2243C>A (p.Ser748Tyr)
c.581C>A (p.Ser194Tyr)
c.3050C>A (p.Ser1017Tyr)
c.2975C>A (p.Ser992Tyr)
 gnomAD v4 COSMIC COSMIC COSMIC
4g.183289448C>GCA358845830WWC2c.3197C>G (p.Ser1066Cys)
c.*2589C>G (n.*2589C>G)
c.*993C>G (n.*993C>G)
c.3269C>G (p.Ser1090Cys)
c.2243C>G (p.Ser748Cys)
c.581C>G (p.Ser194Cys)
c.3050C>G (p.Ser1017Cys)
c.2975C>G (p.Ser992Cys)
4g.183289448C>TCA358845832WWC2c.3197C>T (p.Ser1066Phe)
c.*2589C>T (n.*2589C>T)
c.*993C>T (n.*993C>T)
c.3269C>T (p.Ser1090Phe)
c.2243C>T (p.Ser748Phe)
c.581C>T (p.Ser194Phe)
c.3050C>T (p.Ser1017Phe)
c.2975C>T (p.Ser992Phe)
 gnomAD v4
4g.183289449T>ACA442557552WWC2c.3198T>A (p.Ser1066=)
c.*2590T>A (n.*2590T>A)
c.*994T>A (n.*994T>A)
c.3270T>A (p.Ser1090=)
c.2244T>A (p.Ser748=)
c.582T>A (p.Ser194=)
c.3051T>A (p.Ser1017=)
c.2976T>A (p.Ser992=)
4g.183289449T>CCA442557553WWC2c.3198T>C (p.Ser1066=)
c.*2590T>C (n.*2590T>C)
c.*994T>C (n.*994T>C)
c.3270T>C (p.Ser1090=)
c.2244T>C (p.Ser748=)
c.582T>C (p.Ser194=)
c.3051T>C (p.Ser1017=)
c.2976T>C (p.Ser992=)
4g.183289449T>GCA442557554WWC2c.3198T>G (p.Ser1066=)
c.*2590T>G (n.*2590T>G)
c.*994T>G (n.*994T>G)
c.3270T>G (p.Ser1090=)
c.2244T>G (p.Ser748=)
c.582T>G (p.Ser194=)
c.3051T>G (p.Ser1017=)
c.2976T>G (p.Ser992=)
4g.183289450C>ACA358845834WWC2c.3199C>A (p.Leu1067Ile)
c.*2591C>A (n.*2591C>A)
c.*995C>A (n.*995C>A)
c.3271C>A (p.Leu1091Ile)
c.2245C>A (p.Leu749Ile)
c.583C>A (p.Leu195Ile)
c.3052C>A (p.Leu1018Ile)
c.2977C>A (p.Leu993Ile)
4g.183289450C>GCA358845836WWC2c.3199C>G (p.Leu1067Val)
c.*2591C>G (n.*2591C>G)
c.*995C>G (n.*995C>G)
c.3271C>G (p.Leu1091Val)
c.2245C>G (p.Leu749Val)
c.583C>G (p.Leu195Val)
c.3052C>G (p.Leu1018Val)
c.2977C>G (p.Leu993Val)
4g.183289450C>TCA442557555WWC2c.3199C>T (p.Leu1067=)
c.*2591C>T (n.*2591C>T)
c.*995C>T (n.*995C>T)
c.3271C>T (p.Leu1091=)
c.2245C>T (p.Leu749=)
c.583C>T (p.Leu195=)
c.3052C>T (p.Leu1018=)
c.2977C>T (p.Leu993=)
4g.183289451T>ACA358845838WWC2c.3200T>A (p.Leu1067Gln)
c.*2592T>A (n.*2592T>A)
c.*996T>A (n.*996T>A)
c.3272T>A (p.Leu1091Gln)
c.2246T>A (p.Leu749Gln)
c.584T>A (p.Leu195Gln)
c.3053T>A (p.Leu1018Gln)
c.2978T>A (p.Leu993Gln)
4g.183289451T>CCA358845840WWC2c.3200T>C (p.Leu1067Pro)
c.*2592T>C (n.*2592T>C)
c.*996T>C (n.*996T>C)
c.3272T>C (p.Leu1091Pro)
c.2246T>C (p.Leu749Pro)
c.584T>C (p.Leu195Pro)
c.3053T>C (p.Leu1018Pro)
c.2978T>C (p.Leu993Pro)
4g.183289451T>GCA358845842WWC2c.3200T>G (p.Leu1067Arg)
c.*2592T>G (n.*2592T>G)
c.*996T>G (n.*996T>G)
c.3272T>G (p.Leu1091Arg)
c.2246T>G (p.Leu749Arg)
c.584T>G (p.Leu195Arg)
c.3053T>G (p.Leu1018Arg)
c.2978T>G (p.Leu993Arg)
 gnomAD v4
4g.183289452A=CA1518546702WWC2c.3201A= (p.Leu1067=)
c.*2593A= (n.*2593A=)
c.*997A= (n.*997A=)
c.3273A= (p.Leu1091=)
c.2247A= (p.Leu749=)
c.585A= (p.Leu195=)
c.3054A= (p.Leu1018=)
c.2979A= (p.Leu993=)
4g.183289452A>CCA442557557WWC2c.3201A>C (p.Leu1067=)
c.*2593A>C (n.*2593A>C)
c.*997A>C (n.*997A>C)
c.3273A>C (p.Leu1091=)
c.2247A>C (p.Leu749=)
c.585A>C (p.Leu195=)
c.3054A>C (p.Leu1018=)
c.2979A>C (p.Leu993=)
4g.183289452A>GCA3150300WWC2c.3201A>G (p.Leu1067=)
c.*2593A>G (n.*2593A>G)
c.*997A>G (n.*997A>G)
c.3273A>G (p.Leu1091=)
c.2247A>G (p.Leu749=)
c.585A>G (p.Leu195=)
c.3054A>G (p.Leu1018=)
c.2979A>G (p.Leu993=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.183289452A>TCA442557559WWC2c.3201A>T (p.Leu1067=)
c.*2593A>T (n.*2593A>T)
c.*997A>T (n.*997A>T)
c.3273A>T (p.Leu1091=)
c.2247A>T (p.Leu749=)
c.585A>T (p.Leu195=)
c.3054A>T (p.Leu1018=)
c.2979A>T (p.Leu993=)
4g.183289453G>ACA358845845WWC2c.3202G>A (p.Asp1068Asn)
c.*2594G>A (n.*2594G>A)
c.*998G>A (n.*998G>A)
c.3274G>A (p.Asp1092Asn)
c.2248G>A (p.Asp750Asn)
c.586G>A (p.Asp196Asn)
c.3055G>A (p.Asp1019Asn)
c.2980G>A (p.Asp994Asn)
 gnomAD v4
4g.183289453G>CCA358845848WWC2c.3202G>C (p.Asp1068His)
c.*2594G>C (n.*2594G>C)
c.*998G>C (n.*998G>C)
c.3274G>C (p.Asp1092His)
c.2248G>C (p.Asp750His)
c.586G>C (p.Asp196His)
c.3055G>C (p.Asp1019His)
c.2980G>C (p.Asp994His)
4g.183289453G>TCA358845850WWC2c.3202G>T (p.Asp1068Tyr)
c.*2594G>T (n.*2594G>T)
c.*998G>T (n.*998G>T)
c.3274G>T (p.Asp1092Tyr)
c.2248G>T (p.Asp750Tyr)
c.586G>T (p.Asp196Tyr)
c.3055G>T (p.Asp1019Tyr)
c.2980G>T (p.Asp994Tyr)
4g.183289454A>CCA358845854WWC2c.3203A>C (p.Asp1068Ala)
c.*2595A>C (n.*2595A>C)
c.*999A>C (n.*999A>C)
c.3275A>C (p.Asp1092Ala)
c.2249A>C (p.Asp750Ala)
c.587A>C (p.Asp196Ala)
c.3056A>C (p.Asp1019Ala)
c.2981A>C (p.Asp994Ala)
4g.183289454A>GCA358845856WWC2c.3203A>G (p.Asp1068Gly)
c.*2595A>G (n.*2595A>G)
c.*999A>G (n.*999A>G)
c.3275A>G (p.Asp1092Gly)
c.2249A>G (p.Asp750Gly)
c.587A>G (p.Asp196Gly)
c.3056A>G (p.Asp1019Gly)
c.2981A>G (p.Asp994Gly)
4g.183289454A>TCA358845852WWC2c.3203A>T (p.Asp1068Val)
c.*2595A>T (n.*2595A>T)
c.*999A>T (n.*999A>T)
c.3275A>T (p.Asp1092Val)
c.2249A>T (p.Asp750Val)
c.587A>T (p.Asp196Val)
c.3056A>T (p.Asp1019Val)
c.2981A>T (p.Asp994Val)
4g.183289455C>ACA358845858WWC2c.3204C>A (p.Asp1068Glu)
c.*2596C>A (n.*2596C>A)
c.*1000C>A (n.*1000C>A)
c.3276C>A (p.Asp1092Glu)
c.2250C>A (p.Asp750Glu)
c.588C>A (p.Asp196Glu)
c.3057C>A (p.Asp1019Glu)
c.2982C>A (p.Asp994Glu)
4g.183289455C=CA1518546703WWC2c.3204C= (p.Asp1068=)
c.*2596C= (n.*2596C=)
c.*1000C= (n.*1000C=)
c.3276C= (p.Asp1092=)
c.2250C= (p.Asp750=)
c.588C= (p.Asp196=)
c.3057C= (p.Asp1019=)
c.2982C= (p.Asp994=)
4g.183289455C>GCA358845860WWC2c.3204C>G (p.Asp1068Glu)
c.*2596C>G (n.*2596C>G)
c.*1000C>G (n.*1000C>G)
c.3276C>G (p.Asp1092Glu)
c.2250C>G (p.Asp750Glu)
c.588C>G (p.Asp196Glu)
c.3057C>G (p.Asp1019Glu)
c.2982C>G (p.Asp994Glu)
 dbSNP gnomAD v3 gnomAD v4
4g.183289455C>TCA442557561WWC2c.3204C>T (p.Asp1068=)
c.*2596C>T (n.*2596C>T)
c.*1000C>T (n.*1000C>T)
c.3276C>T (p.Asp1092=)
c.2250C>T (p.Asp750=)
c.588C>T (p.Asp196=)
c.3057C>T (p.Asp1019=)
c.2982C>T (p.Asp994=)
 gnomAD v4
4g.183289456T>ACA358845862WWC2c.3205T>A (p.Leu1069Ile)
c.*2597T>A (n.*2597T>A)
c.*1001T>A (n.*1001T>A)
c.3277T>A (p.Leu1093Ile)
c.2251T>A (p.Leu751Ile)
c.589T>A (p.Leu197Ile)
c.3058T>A (p.Leu1020Ile)
c.2983T>A (p.Leu995Ile)
4g.183289456T>CCA442557564WWC2c.3205T>C (p.Leu1069=)
c.*2597T>C (n.*2597T>C)
c.*1001T>C (n.*1001T>C)
c.3277T>C (p.Leu1093=)
c.2251T>C (p.Leu751=)
c.589T>C (p.Leu197=)
c.3058T>C (p.Leu1020=)
c.2983T>C (p.Leu995=)
4g.183289456T>GCA358845863WWC2c.3205T>G (p.Leu1069Val)
c.*2597T>G (n.*2597T>G)
c.*1001T>G (n.*1001T>G)
c.3277T>G (p.Leu1093Val)
c.2251T>G (p.Leu751Val)
c.589T>G (p.Leu197Val)
c.3058T>G (p.Leu1020Val)
c.2983T>G (p.Leu995Val)
4g.183289457T>ACA358845867WWC2c.3206T>A (p.Leu1069Ter)
c.*2598T>A (n.*2598T>A)
c.*1002T>A (n.*1002T>A)
c.3278T>A (p.Leu1093Ter)
c.2252T>A (p.Leu751Ter)
c.590T>A (p.Leu197Ter)
c.3059T>A (p.Leu1020Ter)
c.2984T>A (p.Leu995Ter)
4g.183289457T>CCA358845865WWC2c.3206T>C (p.Leu1069Ser)
c.*2598T>C (n.*2598T>C)
c.*1002T>C (n.*1002T>C)
c.3278T>C (p.Leu1093Ser)
c.2252T>C (p.Leu751Ser)
c.590T>C (p.Leu197Ser)
c.3059T>C (p.Leu1020Ser)
c.2984T>C (p.Leu995Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.183289457T>GCA111773385WWC2c.3206T>G (p.Leu1069Ter)
c.*2598T>G (n.*2598T>G)
c.*1002T>G (n.*1002T>G)
c.3278T>G (p.Leu1093Ter)
c.2252T>G (p.Leu751Ter)
c.590T>G (p.Leu197Ter)
c.3059T>G (p.Leu1020Ter)
c.2984T>G (p.Leu995Ter)
 dbSNP gnomAD v3 gnomAD v4
4g.183289457T=CA1518546704WWC2c.3206T= (p.Leu1069=)
c.*2598T= (n.*2598T=)
c.*1002T= (n.*1002T=)
c.3278T= (p.Leu1093=)
c.2252T= (p.Leu751=)
c.590T= (p.Leu197=)
c.3059T= (p.Leu1020=)
c.2984T= (p.Leu995=)
4g.183289458A=CA1518546705WWC2c.3207A= (p.Leu1069=)
c.*2599A= (n.*2599A=)
c.*1003A= (n.*1003A=)
c.3279A= (p.Leu1093=)
c.2253A= (p.Leu751=)
c.591A= (p.Leu197=)
c.3060A= (p.Leu1020=)
c.2985A= (p.Leu995=)
4g.183289458A>CCA3150301WWC2c.3207A>C (p.Leu1069Phe)
c.*2599A>C (n.*2599A>C)
c.*1003A>C (n.*1003A>C)
c.3279A>C (p.Leu1093Phe)
c.2253A>C (p.Leu751Phe)
c.591A>C (p.Leu197Phe)
c.3060A>C (p.Leu1020Phe)
c.2985A>C (p.Leu995Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.183289458A>GCA3150302WWC2c.3207A>G (p.Leu1069=)
c.*2599A>G (n.*2599A>G)
c.*1003A>G (n.*1003A>G)
c.3279A>G (p.Leu1093=)
c.2253A>G (p.Leu751=)
c.591A>G (p.Leu197=)
c.3060A>G (p.Leu1020=)
c.2985A>G (p.Leu995=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.183289458A>TCA358845871WWC2c.3207A>T (p.Leu1069Phe)
c.*2599A>T (n.*2599A>T)
c.*1003A>T (n.*1003A>T)
c.3279A>T (p.Leu1093Phe)
c.2253A>T (p.Leu751Phe)
c.591A>T (p.Leu197Phe)
c.3060A>T (p.Leu1020Phe)
c.2985A>T (p.Leu995Phe)
4g.183289459G>ACA358845873WWC2c.3208G>A (p.Glu1070Lys)
c.*2600G>A (n.*2600G>A)
c.*1004G>A (n.*1004G>A)
c.3280G>A (p.Glu1094Lys)
c.2254G>A (p.Glu752Lys)
c.592G>A (p.Glu198Lys)
c.3061G>A (p.Glu1021Lys)
c.2986G>A (p.Glu996Lys)
 COSMIC COSMIC COSMIC
4g.183289459G>CCA358845875WWC2c.3208G>C (p.Glu1070Gln)
c.*2600G>C (n.*2600G>C)
c.*1004G>C (n.*1004G>C)
c.3280G>C (p.Glu1094Gln)
c.2254G>C (p.Glu752Gln)
c.592G>C (p.Glu198Gln)
c.3061G>C (p.Glu1021Gln)
c.2986G>C (p.Glu996Gln)
 gnomAD v4
4g.183289459G>TCA358845877WWC2c.3208G>T (p.Glu1070Ter)
c.*2600G>T (n.*2600G>T)
c.*1004G>T (n.*1004G>T)
c.3280G>T (p.Glu1094Ter)
c.2254G>T (p.Glu752Ter)
c.592G>T (p.Glu198Ter)
c.3061G>T (p.Glu1021Ter)
c.2986G>T (p.Glu996Ter)
4g.183289460A>CCA358845879WWC2c.3209A>C (p.Glu1070Ala)
c.*2601A>C (n.*2601A>C)
c.*1005A>C (n.*1005A>C)
c.3281A>C (p.Glu1094Ala)
c.2255A>C (p.Glu752Ala)
c.593A>C (p.Glu198Ala)
c.3062A>C (p.Glu1021Ala)
c.2987A>C (p.Glu996Ala)
4g.183289460A>GCA358845883WWC2c.3209A>G (p.Glu1070Gly)
c.*2601A>G (n.*2601A>G)
c.*1005A>G (n.*1005A>G)
c.3281A>G (p.Glu1094Gly)
c.2255A>G (p.Glu752Gly)
c.593A>G (p.Glu198Gly)
c.3062A>G (p.Glu1021Gly)
c.2987A>G (p.Glu996Gly)
4g.183289460A>TCA358845881WWC2c.3209A>T (p.Glu1070Val)
c.*2601A>T (n.*2601A>T)
c.*1005A>T (n.*1005A>T)
c.3281A>T (p.Glu1094Val)
c.2255A>T (p.Glu752Val)
c.593A>T (p.Glu198Val)
c.3062A>T (p.Glu1021Val)
c.2987A>T (p.Glu996Val)
4g.183289461A>CCA358845885WWC2c.3210A>C (p.Glu1070Asp)
c.*2602A>C (n.*2602A>C)
c.*1006A>C (n.*1006A>C)
c.3282A>C (p.Glu1094Asp)
c.2256A>C (p.Glu752Asp)
c.594A>C (p.Glu198Asp)
c.3063A>C (p.Glu1021Asp)
c.2988A>C (p.Glu996Asp)
4g.183289461A>GCA442557570WWC2c.3210A>G (p.Glu1070=)
c.*2602A>G (n.*2602A>G)
c.*1006A>G (n.*1006A>G)
c.3282A>G (p.Glu1094=)
c.2256A>G (p.Glu752=)
c.594A>G (p.Glu198=)
c.3063A>G (p.Glu1021=)
c.2988A>G (p.Glu996=)
4g.183289461A>TCA358845886WWC2c.3210A>T (p.Glu1070Asp)
c.*2602A>T (n.*2602A>T)
c.*1006A>T (n.*1006A>T)
c.3282A>T (p.Glu1094Asp)
c.2256A>T (p.Glu752Asp)
c.594A>T (p.Glu198Asp)
c.3063A>T (p.Glu1021Asp)
c.2988A>T (p.Glu996Asp)
4g.183289462C>ACA358845889WWC2c.3211C>A (p.Leu1071Met)
c.*2603C>A (n.*2603C>A)
c.*1007C>A (n.*1007C>A)
c.3283C>A (p.Leu1095Met)
c.2257C>A (p.Leu753Met)
c.595C>A (p.Leu199Met)
c.3064C>A (p.Leu1022Met)
c.2989C>A (p.Leu997Met)
4g.183289462C>GCA358845890WWC2c.3211C>G (p.Leu1071Val)
c.*2603C>G (n.*2603C>G)
c.*1007C>G (n.*1007C>G)
c.3283C>G (p.Leu1095Val)
c.2257C>G (p.Leu753Val)
c.595C>G (p.Leu199Val)
c.3064C>G (p.Leu1022Val)
c.2989C>G (p.Leu997Val)
4g.183289462C>TCA442557572WWC2c.3211C>T (p.Leu1071=)
c.*2603C>T (n.*2603C>T)
c.*1007C>T (n.*1007C>T)
c.3283C>T (p.Leu1095=)
c.2257C>T (p.Leu753=)
c.595C>T (p.Leu199=)
c.3064C>T (p.Leu1022=)
c.2989C>T (p.Leu997=)
 dbSNP
4g.183289463T>ACA358845893WWC2c.3212T>A (p.Leu1071Gln)
c.*2604T>A (n.*2604T>A)
c.*1008T>A (n.*1008T>A)
c.3284T>A (p.Leu1095Gln)
c.2258T>A (p.Leu753Gln)
c.596T>A (p.Leu199Gln)
c.3065T>A (p.Leu1022Gln)
c.2990T>A (p.Leu997Gln)
4g.183289463T>CCA358845895WWC2c.3212T>C (p.Leu1071Pro)
c.*2604T>C (n.*2604T>C)
c.*1008T>C (n.*1008T>C)
c.3284T>C (p.Leu1095Pro)
c.2258T>C (p.Leu753Pro)
c.596T>C (p.Leu199Pro)
c.3065T>C (p.Leu1022Pro)
c.2990T>C (p.Leu997Pro)
 dbSNP gnomAD v2 gnomAD v4
4g.183289463T>GCA358845896WWC2c.3212T>G (p.Leu1071Arg)
c.*2604T>G (n.*2604T>G)
c.*1008T>G (n.*1008T>G)
c.3284T>G (p.Leu1095Arg)
c.2258T>G (p.Leu753Arg)
c.596T>G (p.Leu199Arg)
c.3065T>G (p.Leu1022Arg)
c.2990T>G (p.Leu997Arg)
 dbSNP
4g.183289463T=CA1518546706WWC2c.3212T= (p.Leu1071=)
c.*2604T= (n.*2604T=)
c.*1008T= (n.*1008T=)
c.3284T= (p.Leu1095=)
c.2258T= (p.Leu753=)
c.596T= (p.Leu199=)
c.3065T= (p.Leu1022=)
c.2990T= (p.Leu997=)
4g.183289464G>ACA442557611WWC2c.3213G>A (p.Leu1071=)
c.*2605G>A (n.*2605G>A)
c.*1009G>A (n.*1009G>A)
c.3285G>A (p.Leu1095=)
c.2259G>A (p.Leu753=)
c.597G>A (p.Leu199=)
c.3066G>A (p.Leu1022=)
c.2991G>A (p.Leu997=)
 dbSNP gnomAD v2 gnomAD v4
4g.183289464G>CCA442557612WWC2c.3213G>C (p.Leu1071=)
c.*2605G>C (n.*2605G>C)
c.*1009G>C (n.*1009G>C)
c.3285G>C (p.Leu1095=)
c.2259G>C (p.Leu753=)
c.597G>C (p.Leu199=)
c.3066G>C (p.Leu1022=)
c.2991G>C (p.Leu997=)
4g.183289464G=CA1518546707WWC2c.3213G= (p.Leu1071=)
c.*2605G= (n.*2605G=)
c.*1009G= (n.*1009G=)
c.3285G= (p.Leu1095=)
c.2259G= (p.Leu753=)
c.597G= (p.Leu199=)
c.3066G= (p.Leu1022=)
c.2991G= (p.Leu997=)
4g.183289464G>TCA442557613WWC2c.3213G>T (p.Leu1071=)
c.*2605G>T (n.*2605G>T)
c.*1009G>T (n.*1009G>T)
c.3285G>T (p.Leu1095=)
c.2259G>T (p.Leu753=)
c.597G>T (p.Leu199=)
c.3066G>T (p.Leu1022=)
c.2991G>T (p.Leu997=)
4g.183289465G>ACA358845899WWC2c.3214G>A (p.Asp1072Asn)
c.*2606G>A (n.*2606G>A)
c.*1010G>A (n.*1010G>A)
c.3286G>A (p.Asp1096Asn)
c.2260G>A (p.Asp754Asn)
c.598G>A (p.Asp200Asn)
c.3067G>A (p.Asp1023Asn)
c.2992G>A (p.Asp998Asn)
 gnomAD v4
4g.183289465G>CCA358845901WWC2c.3214G>C (p.Asp1072His)
c.*2606G>C (n.*2606G>C)
c.*1010G>C (n.*1010G>C)
c.3286G>C (p.Asp1096His)
c.2260G>C (p.Asp754His)
c.598G>C (p.Asp200His)
c.3067G>C (p.Asp1023His)
c.2992G>C (p.Asp998His)
4g.183289465G>TCA358845903WWC2c.3214G>T (p.Asp1072Tyr)
c.*2606G>T (n.*2606G>T)
c.*1010G>T (n.*1010G>T)
c.3286G>T (p.Asp1096Tyr)
c.2260G>T (p.Asp754Tyr)
c.598G>T (p.Asp200Tyr)
c.3067G>T (p.Asp1023Tyr)
c.2992G>T (p.Asp998Tyr)
 gnomAD v4
4g.183289466A=CA1518546708WWC2c.3215A= (p.Asp1072=)
c.*2607A= (n.*2607A=)
c.*1011A= (n.*1011A=)
c.3287A= (p.Asp1096=)
c.2261A= (p.Asp754=)
c.599A= (p.Asp200=)
c.3068A= (p.Asp1023=)
c.2993A= (p.Asp998=)
4g.183289466A>CCA358845905WWC2c.3215A>C (p.Asp1072Ala)
c.*2607A>C (n.*2607A>C)
c.*1011A>C (n.*1011A>C)
c.3287A>C (p.Asp1096Ala)
c.2261A>C (p.Asp754Ala)
c.599A>C (p.Asp200Ala)
c.3068A>C (p.Asp1023Ala)
c.2993A>C (p.Asp998Ala)
4g.183289466A>GCA358845907WWC2c.3215A>G (p.Asp1072Gly)
c.*2607A>G (n.*2607A>G)
c.*1011A>G (n.*1011A>G)
c.3287A>G (p.Asp1096Gly)
c.2261A>G (p.Asp754Gly)
c.599A>G (p.Asp200Gly)
c.3068A>G (p.Asp1023Gly)
c.2993A>G (p.Asp998Gly)
4g.183289466A>TCA358845909WWC2c.3215A>T (p.Asp1072Val)
c.*2607A>T (n.*2607A>T)
c.*1011A>T (n.*1011A>T)
c.3287A>T (p.Asp1096Val)
c.2261A>T (p.Asp754Val)
c.599A>T (p.Asp200Val)
c.3068A>T (p.Asp1023Val)
c.2993A>T (p.Asp998Val)
 dbSNP gnomAD v2 gnomAD v4
4g.183289467C>ACA358845911WWC2c.3216C>A (p.Asp1072Glu)
c.*2608C>A (n.*2608C>A)
c.*1012C>A (n.*1012C>A)
c.3288C>A (p.Asp1096Glu)
c.2262C>A (p.Asp754Glu)
c.600C>A (p.Asp200Glu)
c.3069C>A (p.Asp1023Glu)
c.2994C>A (p.Asp998Glu)
4g.183289467C=CA1518546709WWC2c.3216C= (p.Asp1072=)
c.*2608C= (n.*2608C=)
c.*1012C= (n.*1012C=)
c.3288C= (p.Asp1096=)
c.2262C= (p.Asp754=)
c.600C= (p.Asp200=)
c.3069C= (p.Asp1023=)
c.2994C= (p.Asp998=)
4g.183289467C>GCA358845913WWC2c.3216C>G (p.Asp1072Glu)
c.*2608C>G (n.*2608C>G)
c.*1012C>G (n.*1012C>G)
c.3288C>G (p.Asp1096Glu)
c.2262C>G (p.Asp754Glu)
c.600C>G (p.Asp200Glu)
c.3069C>G (p.Asp1023Glu)
c.2994C>G (p.Asp998Glu)
4g.183289467C>TCA442557614WWC2c.3216C>T (p.Asp1072=)
c.*2608C>T (n.*2608C>T)
c.*1012C>T (n.*1012C>T)
c.3288C>T (p.Asp1096=)
c.2262C>T (p.Asp754=)
c.600C>T (p.Asp200=)
c.3069C>T (p.Asp1023=)
c.2994C>T (p.Asp998=)
 dbSNP gnomAD v3 gnomAD v4
4g.183289468C>ACA358845919WWC2c.3217C>A (p.Leu1073Ile)
c.*2609C>A (n.*2609C>A)
c.*1013C>A (n.*1013C>A)
c.3289C>A (p.Leu1097Ile)
c.2263C>A (p.Leu755Ile)
c.601C>A (p.Leu201Ile)
c.3070C>A (p.Leu1024Ile)
c.2995C>A (p.Leu999Ile)
 gnomAD v4
4g.183289468C=CA1518546710WWC2c.3217C= (p.Leu1073=)
c.*2609C= (n.*2609C=)
c.*1013C= (n.*1013C=)
c.3289C= (p.Leu1097=)
c.2263C= (p.Leu755=)
c.601C= (p.Leu201=)
c.3070C= (p.Leu1024=)
c.2995C= (p.Leu999=)
4g.183289468C>GCA358845916WWC2c.3217C>G (p.Leu1073Val)
c.*2609C>G (n.*2609C>G)
c.*1013C>G (n.*1013C>G)
c.3289C>G (p.Leu1097Val)
c.2263C>G (p.Leu755Val)
c.601C>G (p.Leu201Val)
c.3070C>G (p.Leu1024Val)
c.2995C>G (p.Leu999Val)
4g.183289468C>TCA358845917WWC2c.3217C>T (p.Leu1073Phe)
c.*2609C>T (n.*2609C>T)
c.*1013C>T (n.*1013C>T)
c.3289C>T (p.Leu1097Phe)
c.2263C>T (p.Leu755Phe)
c.601C>T (p.Leu201Phe)
c.3070C>T (p.Leu1024Phe)
c.2995C>T (p.Leu999Phe)
 dbSNP
4g.183289469T>ACA358845922WWC2c.3218T>A (p.Leu1073His)
c.*2610T>A (n.*2610T>A)
c.*1014T>A (n.*1014T>A)
c.3290T>A (p.Leu1097His)
c.2264T>A (p.Leu755His)
c.602T>A (p.Leu201His)
c.3071T>A (p.Leu1024His)
c.2996T>A (p.Leu999His)
4g.183289469T>CCA358845923WWC2c.3218T>C (p.Leu1073Pro)
c.*2610T>C (n.*2610T>C)
c.*1014T>C (n.*1014T>C)
c.3290T>C (p.Leu1097Pro)
c.2264T>C (p.Leu755Pro)
c.602T>C (p.Leu201Pro)
c.3071T>C (p.Leu1024Pro)
c.2996T>C (p.Leu999Pro)
4g.183289469T>GCA358845925WWC2c.3218T>G (p.Leu1073Arg)
c.*2610T>G (n.*2610T>G)
c.*1014T>G (n.*1014T>G)
c.3290T>G (p.Leu1097Arg)
c.2264T>G (p.Leu755Arg)
c.602T>G (p.Leu201Arg)
c.3071T>G (p.Leu1024Arg)
c.2996T>G (p.Leu999Arg)
 COSMIC
4g.183289470T>ACA442557615WWC2c.3219T>A (p.Leu1073=)
c.*2611T>A (n.*2611T>A)
c.*1015T>A (n.*1015T>A)
c.3291T>A (p.Leu1097=)
c.2265T>A (p.Leu755=)
c.603T>A (p.Leu201=)
c.3072T>A (p.Leu1024=)
c.2997T>A (p.Leu999=)
4g.183289470T>CCA442557616WWC2c.3219T>C (p.Leu1073=)
c.*2611T>C (n.*2611T>C)
c.*1015T>C (n.*1015T>C)
c.3291T>C (p.Leu1097=)
c.2265T>C (p.Leu755=)
c.603T>C (p.Leu201=)
c.3072T>C (p.Leu1024=)
c.2997T>C (p.Leu999=)
 dbSNP gnomAD v2 gnomAD v4
4g.183289470T>GCA442557617WWC2c.3219T>G (p.Leu1073=)
c.*2611T>G (n.*2611T>G)
c.*1015T>G (n.*1015T>G)
c.3291T>G (p.Leu1097=)
c.2265T>G (p.Leu755=)
c.603T>G (p.Leu201=)
c.3072T>G (p.Leu1024=)
c.2997T>G (p.Leu999=)
4g.183289470T=CA1518546711WWC2c.3219T= (p.Leu1073=)
c.*2611T= (n.*2611T=)
c.*1015T= (n.*1015T=)
c.3291T= (p.Leu1097=)
c.2265T= (p.Leu755=)
c.603T= (p.Leu201=)
c.3072T= (p.Leu1024=)
c.2997T= (p.Leu999=)
4g.183289471C>ACA358845927WWC2c.3220C>A (p.Gln1074Lys)
c.*2612C>A (n.*2612C>A)
c.*1016C>A (n.*1016C>A)
c.3292C>A (p.Gln1098Lys)
c.2266C>A (p.Gln756Lys)
c.604C>A (p.Gln202Lys)
c.3073C>A (p.Gln1025Lys)
c.2998C>A (p.Gln1000Lys)
4g.183289471C=CA1518546712WWC2c.3220C= (p.Gln1074=)
c.*2612C= (n.*2612C=)
c.*1016C= (n.*1016C=)
c.3292C= (p.Gln1098=)
c.2266C= (p.Gln756=)
c.604C= (p.Gln202=)
c.3073C= (p.Gln1025=)
c.2998C= (p.Gln1000=)
4g.183289471C>GCA358845928WWC2c.3220C>G (p.Gln1074Glu)
c.*2612C>G (n.*2612C>G)
c.*1016C>G (n.*1016C>G)
c.3292C>G (p.Gln1098Glu)
c.2266C>G (p.Gln756Glu)
c.604C>G (p.Gln202Glu)
c.3073C>G (p.Gln1025Glu)
c.2998C>G (p.Gln1000Glu)
4g.183289471C>TCA358845930WWC2c.3220C>T (p.Gln1074Ter)
c.*2612C>T (n.*2612C>T)
c.*1016C>T (n.*1016C>T)
c.3292C>T (p.Gln1098Ter)
c.2266C>T (p.Gln756Ter)
c.604C>T (p.Gln202Ter)
c.3073C>T (p.Gln1025Ter)
c.2998C>T (p.Gln1000Ter)
 dbSNP gnomAD v2 COSMIC COSMIC COSMIC
4g.183289472A=CA1518546714WWC2c.3221A= (p.Gln1074=)
c.*2613A= (n.*2613A=)
c.*1017A= (n.*1017A=)
c.3293A= (p.Gln1098=)
c.2267A= (p.Gln756=)
c.605A= (p.Gln202=)
c.3074A= (p.Gln1025=)
c.2999A= (p.Gln1000=)
4g.183289472A>CCA358845932WWC2c.3221A>C (p.Gln1074Pro)
c.*2613A>C (n.*2613A>C)
c.*1017A>C (n.*1017A>C)
c.3293A>C (p.Gln1098Pro)
c.2267A>C (p.Gln756Pro)
c.605A>C (p.Gln202Pro)
c.3074A>C (p.Gln1025Pro)
c.2999A>C (p.Gln1000Pro)
4g.183289472A>GCA358845934WWC2c.3221A>G (p.Gln1074Arg)
c.*2613A>G (n.*2613A>G)
c.*1017A>G (n.*1017A>G)
c.3293A>G (p.Gln1098Arg)
c.2267A>G (p.Gln756Arg)
c.605A>G (p.Gln202Arg)
c.3074A>G (p.Gln1025Arg)
c.2999A>G (p.Gln1000Arg)
 dbSNP gnomAD v2 gnomAD v4
4g.183289472A>TCA358845935WWC2c.3221A>T (p.Gln1074Leu)
c.*2613A>T (n.*2613A>T)
c.*1017A>T (n.*1017A>T)
c.3293A>T (p.Gln1098Leu)
c.2267A>T (p.Gln756Leu)
c.605A>T (p.Gln202Leu)
c.3074A>T (p.Gln1025Leu)
c.2999A>T (p.Gln1000Leu)
4g.183289472_183289486delinsAGGCATCTCTGACCCCA1518546713WWC2c.3221_3235delinsAGGCATCTCTGACCC (p.Gln1074=)
c.*2613_*2627delinsAGGCATCTCTGACCC (n.*2613_*2627delinsAGGCATCTCTGACCC)
c.*1017_*1031delinsAGGCATCTCTGACCC (n.*1017_*1031delinsAGGCATCTCTGACCC)
c.3293_3307delinsAGGCATCTCTGACCC (p.Gln1098=)
c.2267_2281delinsAGGCATCTCTGACCC (p.Gln756=)
c.605_619delinsAGGCATCTCTGACCC (p.Gln202=)
c.3074_3088delinsAGGCATCTCTGACCC (p.Gln1025=)
c.2999_3013delinsAGGCATCTCTGACCC (p.Gln1000=)
4g.183289473G>ACA442557618WWC2c.3222G>A (p.Gln1074=)
c.*2614G>A (n.*2614G>A)
c.*1018G>A (n.*1018G>A)
c.3294G>A (p.Gln1098=)
c.2268G>A (p.Gln756=)
c.606G>A (p.Gln202=)
c.3075G>A (p.Gln1025=)
c.3000G>A (p.Gln1000=)
4g.183289473G>CCA358845937WWC2c.3222G>C (p.Gln1074His)
c.*2614G>C (n.*2614G>C)
c.*1018G>C (n.*1018G>C)
c.3294G>C (p.Gln1098His)
c.2268G>C (p.Gln756His)
c.606G>C (p.Gln202His)
c.3075G>C (p.Gln1025His)
c.3000G>C (p.Gln1000His)
4g.183289473G>TCA358845939WWC2c.3222G>T (p.Gln1074His)
c.*2614G>T (n.*2614G>T)
c.*1018G>T (n.*1018G>T)
c.3294G>T (p.Gln1098His)
c.2268G>T (p.Gln756His)
c.606G>T (p.Gln202His)
c.3075G>T (p.Gln1025His)
c.3000G>T (p.Gln1000His)
4g.183289477_183289490delCA557393627WWC2c.3226_3239del (p.Ser1076GlufsTer5)
c.*2618_*2631del (n.*2618_*2631del)
c.*1022_*1035del (n.*1022_*1035del)
c.3298_3311del (p.Ser1100GlufsTer5)
c.2272_2285del (p.Ser758GlufsTer5)
c.610_623del (p.Ser204GlufsTer5)
c.3079_3092del (p.Ser1027GlufsTer5)
c.3004_3017del (p.Ser1002GlufsTer5)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.183289474G>ACA358845943WWC2c.3223G>A (p.Ala1075Thr)
c.*2615G>A (n.*2615G>A)
c.*1019G>A (n.*1019G>A)
c.3295G>A (p.Ala1099Thr)
c.2269G>A (p.Ala757Thr)
c.607G>A (p.Ala203Thr)
c.3076G>A (p.Ala1026Thr)
c.3001G>A (p.Ala1001Thr)
4g.183289474G>CCA358845945WWC2c.3223G>C (p.Ala1075Pro)
c.*2615G>C (n.*2615G>C)
c.*1019G>C (n.*1019G>C)
c.3295G>C (p.Ala1099Pro)
c.2269G>C (p.Ala757Pro)
c.607G>C (p.Ala203Pro)
c.3076G>C (p.Ala1026Pro)
c.3001G>C (p.Ala1001Pro)
 gnomAD v4
4g.183289474G>TCA358845941WWC2c.3223G>T (p.Ala1075Ser)
c.*2615G>T (n.*2615G>T)
c.*1019G>T (n.*1019G>T)
c.3295G>T (p.Ala1099Ser)
c.2269G>T (p.Ala757Ser)
c.607G>T (p.Ala203Ser)
c.3076G>T (p.Ala1026Ser)
c.3001G>T (p.Ala1001Ser)
 gnomAD v4
4g.183289475C>ACA358845947WWC2c.3224C>A (p.Ala1075Glu)
c.*2616C>A (n.*2616C>A)
c.*1020C>A (n.*1020C>A)
c.3296C>A (p.Ala1099Glu)
c.2270C>A (p.Ala757Glu)
c.608C>A (p.Ala203Glu)
c.3077C>A (p.Ala1026Glu)
c.3002C>A (p.Ala1001Glu)
4g.183289475C>GCA358845948WWC2c.3224C>G (p.Ala1075Gly)
c.*2616C>G (n.*2616C>G)
c.*1020C>G (n.*1020C>G)
c.3296C>G (p.Ala1099Gly)
c.2270C>G (p.Ala757Gly)
c.608C>G (p.Ala203Gly)
c.3077C>G (p.Ala1026Gly)
c.3002C>G (p.Ala1001Gly)
4g.183289475C>TCA358845950WWC2c.3224C>T (p.Ala1075Val)
c.*2616C>T (n.*2616C>T)
c.*1020C>T (n.*1020C>T)
c.3296C>T (p.Ala1099Val)
c.2270C>T (p.Ala757Val)
c.608C>T (p.Ala203Val)
c.3077C>T (p.Ala1026Val)
c.3002C>T (p.Ala1001Val)
 gnomAD v4
4g.183289476A>CCA442557619WWC2c.3225A>C (p.Ala1075=)
c.*2617A>C (n.*2617A>C)
c.*1021A>C (n.*1021A>C)
c.3297A>C (p.Ala1099=)
c.2271A>C (p.Ala757=)
c.609A>C (p.Ala203=)
c.3078A>C (p.Ala1026=)
c.3003A>C (p.Ala1001=)
4g.183289476A>GCA442557621WWC2c.3225A>G (p.Ala1075=)
c.*2617A>G (n.*2617A>G)
c.*1021A>G (n.*1021A>G)
c.3297A>G (p.Ala1099=)
c.2271A>G (p.Ala757=)
c.609A>G (p.Ala203=)
c.3078A>G (p.Ala1026=)
c.3003A>G (p.Ala1001=)
4g.183289476A>TCA442557620WWC2c.3225A>T (p.Ala1075=)
c.*2617A>T (n.*2617A>T)
c.*1021A>T (n.*1021A>T)
c.3297A>T (p.Ala1099=)
c.2271A>T (p.Ala757=)
c.609A>T (p.Ala203=)
c.3078A>T (p.Ala1026=)
c.3003A>T (p.Ala1001=)
4g.183289477T>ACA358845952WWC2c.3226T>A (p.Ser1076Thr)
c.*2618T>A (n.*2618T>A)
c.*1022T>A (n.*1022T>A)
c.3298T>A (p.Ser1100Thr)
c.2272T>A (p.Ser758Thr)
c.610T>A (p.Ser204Thr)
c.3079T>A (p.Ser1027Thr)
c.3004T>A (p.Ser1002Thr)
4g.183289477T>CCA358845954WWC2c.3226T>C (p.Ser1076Pro)
c.*2618T>C (n.*2618T>C)
c.*1022T>C (n.*1022T>C)
c.3298T>C (p.Ser1100Pro)
c.2272T>C (p.Ser758Pro)
c.610T>C (p.Ser204Pro)
c.3079T>C (p.Ser1027Pro)
c.3004T>C (p.Ser1002Pro)
4g.183289477T>GCA358845956WWC2c.3226T>G (p.Ser1076Ala)
c.*2618T>G (n.*2618T>G)
c.*1022T>G (n.*1022T>G)
c.3298T>G (p.Ser1100Ala)
c.2272T>G (p.Ser758Ala)
c.610T>G (p.Ser204Ala)
c.3079T>G (p.Ser1027Ala)
c.3004T>G (p.Ser1002Ala)
4g.183289478C>ACA358845961WWC2c.3227C>A (p.Ser1076Tyr)
c.*2619C>A (n.*2619C>A)
c.*1023C>A (n.*1023C>A)
c.3299C>A (p.Ser1100Tyr)
c.2273C>A (p.Ser758Tyr)
c.611C>A (p.Ser204Tyr)
c.3080C>A (p.Ser1027Tyr)
c.3005C>A (p.Ser1002Tyr)
4g.183289478C>GCA358845958WWC2c.3227C>G (p.Ser1076Cys)
c.*2619C>G (n.*2619C>G)
c.*1023C>G (n.*1023C>G)
c.3299C>G (p.Ser1100Cys)
c.2273C>G (p.Ser758Cys)
c.611C>G (p.Ser204Cys)
c.3080C>G (p.Ser1027Cys)
c.3005C>G (p.Ser1002Cys)
4g.183289478C>TCA358845960WWC2c.3227C>T (p.Ser1076Phe)
c.*2619C>T (n.*2619C>T)
c.*1023C>T (n.*1023C>T)
c.3299C>T (p.Ser1100Phe)
c.2273C>T (p.Ser758Phe)
c.611C>T (p.Ser204Phe)
c.3080C>T (p.Ser1027Phe)
c.3005C>T (p.Ser1002Phe)
4g.183289479T>ACA442557622WWC2c.3228T>A (p.Ser1076=)
c.*2620T>A (n.*2620T>A)
c.*1024T>A (n.*1024T>A)
c.3300T>A (p.Ser1100=)
c.2274T>A (p.Ser758=)
c.612T>A (p.Ser204=)
c.3081T>A (p.Ser1027=)
c.3006T>A (p.Ser1002=)
4g.183289479T>CCA442557623WWC2c.3228T>C (p.Ser1076=)
c.*2620T>C (n.*2620T>C)
c.*1024T>C (n.*1024T>C)
c.3300T>C (p.Ser1100=)
c.2274T>C (p.Ser758=)
c.612T>C (p.Ser204=)
c.3081T>C (p.Ser1027=)
c.3006T>C (p.Ser1002=)
 dbSNP
4g.183289479T>GCA442557624WWC2c.3228T>G (p.Ser1076=)
c.*2620T>G (n.*2620T>G)
c.*1024T>G (n.*1024T>G)
c.3300T>G (p.Ser1100=)
c.2274T>G (p.Ser758=)
c.612T>G (p.Ser204=)
c.3081T>G (p.Ser1027=)
c.3006T>G (p.Ser1002=)
4g.183289479T=CA1518546715WWC2c.3228T= (p.Ser1076=)
c.*2620T= (n.*2620T=)
c.*1024T= (n.*1024T=)
c.3300T= (p.Ser1100=)
c.2274T= (p.Ser758=)
c.612T= (p.Ser204=)
c.3081T= (p.Ser1027=)
c.3006T= (p.Ser1002=)
4g.183289480C>ACA358845963WWC2c.3229C>A (p.Leu1077Met)
c.*2621C>A (n.*2621C>A)
c.*1025C>A (n.*1025C>A)
c.3301C>A (p.Leu1101Met)
c.2275C>A (p.Leu759Met)
c.613C>A (p.Leu205Met)
c.3082C>A (p.Leu1028Met)
c.3007C>A (p.Leu1003Met)
4g.183289480C>GCA358845965WWC2c.3229C>G (p.Leu1077Val)
c.*2621C>G (n.*2621C>G)
c.*1025C>G (n.*1025C>G)
c.3301C>G (p.Leu1101Val)
c.2275C>G (p.Leu759Val)
c.613C>G (p.Leu205Val)
c.3082C>G (p.Leu1028Val)
c.3007C>G (p.Leu1003Val)
4g.183289480C>TCA442557625WWC2c.3229C>T (p.Leu1077=)
c.*2621C>T (n.*2621C>T)
c.*1025C>T (n.*1025C>T)
c.3301C>T (p.Leu1101=)
c.2275C>T (p.Leu759=)
c.613C>T (p.Leu205=)
c.3082C>T (p.Leu1028=)
c.3007C>T (p.Leu1003=)
4g.183289481T>ACA358845967WWC2c.3230T>A (p.Leu1077Gln)
c.*2622T>A (n.*2622T>A)
c.*1026T>A (n.*1026T>A)
c.3302T>A (p.Leu1101Gln)
c.2276T>A (p.Leu759Gln)
c.614T>A (p.Leu205Gln)
c.3083T>A (p.Leu1028Gln)
c.3008T>A (p.Leu1003Gln)
4g.183289481T>CCA358845969WWC2c.3230T>C (p.Leu1077Pro)
c.*2622T>C (n.*2622T>C)
c.*1026T>C (n.*1026T>C)
c.3302T>C (p.Leu1101Pro)
c.2276T>C (p.Leu759Pro)
c.614T>C (p.Leu205Pro)
c.3083T>C (p.Leu1028Pro)
c.3008T>C (p.Leu1003Pro)
4g.183289481T>GCA358845971WWC2c.3230T>G (p.Leu1077Arg)
c.*2622T>G (n.*2622T>G)
c.*1026T>G (n.*1026T>G)
c.3302T>G (p.Leu1101Arg)
c.2276T>G (p.Leu759Arg)
c.614T>G (p.Leu205Arg)
c.3083T>G (p.Leu1028Arg)
c.3008T>G (p.Leu1003Arg)
4g.183289482G>ACA442557626WWC2c.3231G>A (p.Leu1077=)
c.*2623G>A (n.*2623G>A)
c.*1027G>A (n.*1027G>A)
c.3303G>A (p.Leu1101=)
c.2277G>A (p.Leu759=)
c.615G>A (p.Leu205=)
c.3084G>A (p.Leu1028=)
c.3009G>A (p.Leu1003=)
 dbSNP gnomAD v2 gnomAD v4
4g.183289482G>CCA442557627WWC2c.3231G>C (p.Leu1077=)
c.*2623G>C (n.*2623G>C)
c.*1027G>C (n.*1027G>C)
c.3303G>C (p.Leu1101=)
c.2277G>C (p.Leu759=)
c.615G>C (p.Leu205=)
c.3084G>C (p.Leu1028=)
c.3009G>C (p.Leu1003=)
4g.183289482G=CA1518546716WWC2c.3231G= (p.Leu1077=)
c.*2623G= (n.*2623G=)
c.*1027G= (n.*1027G=)
c.3303G= (p.Leu1101=)
c.2277G= (p.Leu759=)
c.615G= (p.Leu205=)
c.3084G= (p.Leu1028=)
c.3009G= (p.Leu1003=)
4g.183289482G>TCA442557628WWC2c.3231G>T (p.Leu1077=)
c.*2623G>T (n.*2623G>T)
c.*1027G>T (n.*1027G>T)
c.3303G>T (p.Leu1101=)
c.2277G>T (p.Leu759=)
c.615G>T (p.Leu205=)
c.3084G>T (p.Leu1028=)
c.3009G>T (p.Leu1003=)
4g.183289483A=CA1518546717WWC2c.3232A= (p.Thr1078=)
c.*2624A= (n.*2624A=)
c.*1028A= (n.*1028A=)
c.3304A= (p.Thr1102=)
c.2278A= (p.Thr760=)
c.616A= (p.Thr206=)
c.3085A= (p.Thr1029=)
c.3010A= (p.Thr1004=)
4g.183289483A>CCA358845973WWC2c.3232A>C (p.Thr1078Pro)
c.*2624A>C (n.*2624A>C)
c.*1028A>C (n.*1028A>C)
c.3304A>C (p.Thr1102Pro)
c.2278A>C (p.Thr760Pro)
c.616A>C (p.Thr206Pro)
c.3085A>C (p.Thr1029Pro)
c.3010A>C (p.Thr1004Pro)
 dbSNP
4g.183289483A>GCA358845977WWC2c.3232A>G (p.Thr1078Ala)
c.*2624A>G (n.*2624A>G)
c.*1028A>G (n.*1028A>G)
c.3304A>G (p.Thr1102Ala)
c.2278A>G (p.Thr760Ala)
c.616A>G (p.Thr206Ala)
c.3085A>G (p.Thr1029Ala)
c.3010A>G (p.Thr1004Ala)
4g.183289483A>TCA358845975WWC2c.3232A>T (p.Thr1078Ser)
c.*2624A>T (n.*2624A>T)
c.*1028A>T (n.*1028A>T)
c.3304A>T (p.Thr1102Ser)
c.2278A>T (p.Thr760Ser)
c.616A>T (p.Thr206Ser)
c.3085A>T (p.Thr1029Ser)
c.3010A>T (p.Thr1004Ser)
4g.183289484C>ACA358845979WWC2c.3233C>A (p.Thr1078Asn)
c.*2625C>A (n.*2625C>A)
c.*1029C>A (n.*1029C>A)
c.3305C>A (p.Thr1102Asn)
c.2279C>A (p.Thr760Asn)
c.617C>A (p.Thr206Asn)
c.3086C>A (p.Thr1029Asn)
c.3011C>A (p.Thr1004Asn)
4g.183289484C>GCA358845980WWC2c.3233C>G (p.Thr1078Ser)
c.*2625C>G (n.*2625C>G)
c.*1029C>G (n.*1029C>G)
c.3305C>G (p.Thr1102Ser)
c.2279C>G (p.Thr760Ser)
c.617C>G (p.Thr206Ser)
c.3086C>G (p.Thr1029Ser)
c.3011C>G (p.Thr1004Ser)
 gnomAD v4
4g.183289484C>TCA358845981WWC2c.3233C>T (p.Thr1078Ile)
c.*2625C>T (n.*2625C>T)
c.*1029C>T (n.*1029C>T)
c.3305C>T (p.Thr1102Ile)
c.2279C>T (p.Thr760Ile)
c.617C>T (p.Thr206Ile)
c.3086C>T (p.Thr1029Ile)
c.3011C>T (p.Thr1004Ile)
4g.183289485C>ACA442557630WWC2c.3234C>A (p.Thr1078=)
c.*2626C>A (n.*2626C>A)
c.*1030C>A (n.*1030C>A)
c.3306C>A (p.Thr1102=)
c.2280C>A (p.Thr760=)
c.618C>A (p.Thr206=)
c.3087C>A (p.Thr1029=)
c.3012C>A (p.Thr1004=)
4g.183289485C>GCA442557631WWC2c.3234C>G (p.Thr1078=)
c.*2626C>G (n.*2626C>G)
c.*1030C>G (n.*1030C>G)
c.3306C>G (p.Thr1102=)
c.2280C>G (p.Thr760=)
c.618C>G (p.Thr206=)
c.3087C>G (p.Thr1029=)
c.3012C>G (p.Thr1004=)
4g.183289485C>TCA442557632WWC2c.3234C>T (p.Thr1078=)
c.*2626C>T (n.*2626C>T)
c.*1030C>T (n.*1030C>T)
c.3306C>T (p.Thr1102=)
c.2280C>T (p.Thr760=)
c.618C>T (p.Thr206=)
c.3087C>T (p.Thr1029=)
c.3012C>T (p.Thr1004=)
4g.183289486C>ACA442557633WWC2c.3235C>A (p.Arg1079=)
c.*2627C>A (n.*2627C>A)
c.*1031C>A (n.*1031C>A)
c.3307C>A (p.Arg1103=)
c.2281C>A (p.Arg761=)
c.619C>A (p.Arg207=)
c.3088C>A (p.Arg1030=)
c.3013C>A (p.Arg1005=)
 gnomAD v4
4g.183289486C=CA1518546718WWC2c.3235C= (p.Arg1079=)
c.*2627C= (n.*2627C=)
c.*1031C= (n.*1031C=)
c.3307C= (p.Arg1103=)
c.2281C= (p.Arg761=)
c.619C= (p.Arg207=)
c.3088C= (p.Arg1030=)
c.3013C= (p.Arg1005=)
4g.183289486C>GCA358845983WWC2c.3235C>G (p.Arg1079Gly)
c.*2627C>G (n.*2627C>G)
c.*1031C>G (n.*1031C>G)
c.3307C>G (p.Arg1103Gly)
c.2281C>G (p.Arg761Gly)
c.619C>G (p.Arg207Gly)
c.3088C>G (p.Arg1030Gly)
c.3013C>G (p.Arg1005Gly)
4g.183289486C>TCA3150303WWC2c.3235C>T (p.Arg1079Trp)
c.*2627C>T (n.*2627C>T)
c.*1031C>T (n.*1031C>T)
c.3307C>T (p.Arg1103Trp)
c.2281C>T (p.Arg761Trp)
c.619C>T (p.Arg207Trp)
c.3088C>T (p.Arg1030Trp)
c.3013C>T (p.Arg1005Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.183289487G>ACA111773424WWC2c.3236G>A (p.Arg1079Gln)
c.*2628G>A (n.*2628G>A)
c.*1032G>A (n.*1032G>A)
c.3308G>A (p.Arg1103Gln)
c.2282G>A (p.Arg761Gln)
c.620G>A (p.Arg207Gln)
c.3089G>A (p.Arg1030Gln)
c.3014G>A (p.Arg1005Gln)
 dbSNP gnomAD v4
4g.183289487G>CCA358845987WWC2c.3236G>C (p.Arg1079Pro)
c.*2628G>C (n.*2628G>C)
c.*1032G>C (n.*1032G>C)
c.3308G>C (p.Arg1103Pro)
c.2282G>C (p.Arg761Pro)
c.620G>C (p.Arg207Pro)
c.3089G>C (p.Arg1030Pro)
c.3014G>C (p.Arg1005Pro)
4g.183289487G=CA1518546719WWC2c.3236G= (p.Arg1079=)
c.*2628G= (n.*2628G=)
c.*1032G= (n.*1032G=)
c.3308G= (p.Arg1103=)
c.2282G= (p.Arg761=)
c.620G= (p.Arg207=)
c.3089G= (p.Arg1030=)
c.3014G= (p.Arg1005=)
4g.183289487G>TCA358845989WWC2c.3236G>T (p.Arg1079Leu)
c.*2628G>T (n.*2628G>T)
c.*1032G>T (n.*1032G>T)
c.3308G>T (p.Arg1103Leu)
c.2282G>T (p.Arg761Leu)
c.620G>T (p.Arg207Leu)
c.3089G>T (p.Arg1030Leu)
c.3014G>T (p.Arg1005Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.183289488G>ACA442557634WWC2c.3237G>A (p.Arg1079=)
c.*2629G>A (n.*2629G>A)
c.*1033G>A (n.*1033G>A)
c.3309G>A (p.Arg1103=)
c.2283G>A (p.Arg761=)
c.621G>A (p.Arg207=)
c.3090G>A (p.Arg1030=)
c.3015G>A (p.Arg1005=)
4g.183289488G>CCA442557635WWC2c.3237G>C (p.Arg1079=)
c.*2629G>C (n.*2629G>C)
c.*1033G>C (n.*1033G>C)
c.3309G>C (p.Arg1103=)
c.2283G>C (p.Arg761=)
c.621G>C (p.Arg207=)
c.3090G>C (p.Arg1030=)
c.3015G>C (p.Arg1005=)
4g.183289488G>TCA442557636WWC2c.3237G>T (p.Arg1079=)
c.*2629G>T (n.*2629G>T)
c.*1033G>T (n.*1033G>T)
c.3309G>T (p.Arg1103=)
c.2283G>T (p.Arg761=)
c.621G>T (p.Arg207=)
c.3090G>T (p.Arg1030=)
c.3015G>T (p.Arg1005=)
4g.183289489C>ACA358845991WWC2c.3238C>A (p.Gln1080Lys)
c.*2630C>A (n.*2630C>A)
c.*1034C>A (n.*1034C>A)
c.3310C>A (p.Gln1104Lys)
c.2284C>A (p.Gln762Lys)
c.622C>A (p.Gln208Lys)
c.3091C>A (p.Gln1031Lys)
c.3016C>A (p.Gln1006Lys)
 dbSNP gnomAD v2 gnomAD v4
4g.183289489C=CA1518546720WWC2c.3238C= (p.Gln1080=)
c.*2630C= (n.*2630C=)
c.*1034C= (n.*1034C=)
c.3310C= (p.Gln1104=)
c.2284C= (p.Gln762=)
c.622C= (p.Gln208=)
c.3091C= (p.Gln1031=)
c.3016C= (p.Gln1006=)
4g.183289489C>GCA358845993WWC2c.3238C>G (p.Gln1080Glu)
c.*2630C>G (n.*2630C>G)
c.*1034C>G (n.*1034C>G)
c.3310C>G (p.Gln1104Glu)
c.2284C>G (p.Gln762Glu)
c.622C>G (p.Gln208Glu)
c.3091C>G (p.Gln1031Glu)
c.3016C>G (p.Gln1006Glu)
4g.183289489C>TCA358845995WWC2c.3238C>T (p.Gln1080Ter)
c.*2630C>T (n.*2630C>T)
c.*1034C>T (n.*1034C>T)
c.3310C>T (p.Gln1104Ter)
c.2284C>T (p.Gln762Ter)
c.622C>T (p.Gln208Ter)
c.3091C>T (p.Gln1031Ter)
c.3016C>T (p.Gln1006Ter)
 dbSNP gnomAD v3 gnomAD v4
4g.183289490A>CCA358846001WWC2c.3239A>C (p.Gln1080Pro)
c.*2631A>C (n.*2631A>C)
c.*1035A>C (n.*1035A>C)
c.3311A>C (p.Gln1104Pro)
c.2285A>C (p.Gln762Pro)
c.623A>C (p.Gln208Pro)
c.3092A>C (p.Gln1031Pro)
c.3017A>C (p.Gln1006Pro)
4g.183289490A>GCA358845999WWC2c.3239A>G (p.Gln1080Arg)
c.*2631A>G (n.*2631A>G)
c.*1035A>G (n.*1035A>G)
c.3311A>G (p.Gln1104Arg)
c.2285A>G (p.Gln762Arg)
c.623A>G (p.Gln208Arg)
c.3092A>G (p.Gln1031Arg)
c.3017A>G (p.Gln1006Arg)
4g.183289490A>TCA358845997WWC2c.3239A>T (p.Gln1080Leu)
c.*2631A>T (n.*2631A>T)
c.*1035A>T (n.*1035A>T)
c.3311A>T (p.Gln1104Leu)
c.2285A>T (p.Gln762Leu)
c.623A>T (p.Gln208Leu)
c.3092A>T (p.Gln1031Leu)
c.3017A>T (p.Gln1006Leu)
4g.183289491G>ACA3150304WWC2c.3240G>A (p.Gln1080=)
c.*2632G>A (n.*2632G>A)
c.*1036G>A (n.*1036G>A)
c.3312G>A (p.Gln1104=)
c.2286G>A (p.Gln762=)
c.624G>A (p.Gln208=)
c.3093G>A (p.Gln1031=)
c.3018G>A (p.Gln1006=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.183289491G>CCA358846005WWC2c.3240G>C (p.Gln1080His)
c.*2632G>C (n.*2632G>C)
c.*1036G>C (n.*1036G>C)
c.3312G>C (p.Gln1104His)
c.2286G>C (p.Gln762His)
c.624G>C (p.Gln208His)
c.3093G>C (p.Gln1031His)
c.3018G>C (p.Gln1006His)
4g.183289491G=CA1518546721WWC2c.3240G= (p.Gln1080=)
c.*2632G= (n.*2632G=)
c.*1036G= (n.*1036G=)
c.3312G= (p.Gln1104=)
c.2286G= (p.Gln762=)
c.624G= (p.Gln208=)
c.3093G= (p.Gln1031=)
c.3018G= (p.Gln1006=)
4g.183289491G>TCA358846006WWC2c.3240G>T (p.Gln1080His)
c.*2632G>T (n.*2632G>T)
c.*1036G>T (n.*1036G>T)
c.3312G>T (p.Gln1104His)
c.2286G>T (p.Gln762His)
c.624G>T (p.Gln208His)
c.3093G>T (p.Gln1031His)
c.3018G>T (p.Gln1006His)
4g.183289492A=CA1518546722WWC2c.3241A= (p.Ser1081=)
c.*2633A= (n.*2633A=)
c.*1037A= (n.*1037A=)
c.3313A= (p.Ser1105=)
c.2287A= (p.Ser763=)
c.625A= (p.Ser209=)
c.3094A= (p.Ser1032=)
c.3019A= (p.Ser1007=)
4g.183289492A>CCA358846009WWC2c.3241A>C (p.Ser1081Arg)
c.*2633A>C (n.*2633A>C)
c.*1037A>C (n.*1037A>C)
c.3313A>C (p.Ser1105Arg)
c.2287A>C (p.Ser763Arg)
c.625A>C (p.Ser209Arg)
c.3094A>C (p.Ser1032Arg)
c.3019A>C (p.Ser1007Arg)
4g.183289492A>GCA3150305WWC2c.3241A>G (p.Ser1081Gly)
c.*2633A>G (n.*2633A>G)
c.*1037A>G (n.*1037A>G)
c.3313A>G (p.Ser1105Gly)
c.2287A>G (p.Ser763Gly)
c.625A>G (p.Ser209Gly)
c.3094A>G (p.Ser1032Gly)
c.3019A>G (p.Ser1007Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.183289492A>TCA358846012WWC2c.3241A>T (p.Ser1081Cys)
c.*2633A>T (n.*2633A>T)
c.*1037A>T (n.*1037A>T)
c.3313A>T (p.Ser1105Cys)
c.2287A>T (p.Ser763Cys)
c.625A>T (p.Ser209Cys)
c.3094A>T (p.Ser1032Cys)
c.3019A>T (p.Ser1007Cys)
4g.183289493G>ACA358846018WWC2c.3242G>A (p.Ser1081Asn)
c.*2634G>A (n.*2634G>A)
c.*1038G>A (n.*1038G>A)
c.3314G>A (p.Ser1105Asn)
c.2288G>A (p.Ser763Asn)
c.626G>A (p.Ser209Asn)
c.3095G>A (p.Ser1032Asn)
c.3020G>A (p.Ser1007Asn)
 gnomAD v4
4g.183289493G>CCA358846014WWC2c.3242G>C (p.Ser1081Thr)
c.*2634G>C (n.*2634G>C)
c.*1038G>C (n.*1038G>C)
c.3314G>C (p.Ser1105Thr)
c.2288G>C (p.Ser763Thr)
c.626G>C (p.Ser209Thr)
c.3095G>C (p.Ser1032Thr)
c.3020G>C (p.Ser1007Thr)
 gnomAD v4
4g.183289493G>TCA358846015WWC2c.3242G>T (p.Ser1081Ile)
c.*2634G>T (n.*2634G>T)
c.*1038G>T (n.*1038G>T)
c.3314G>T (p.Ser1105Ile)
c.2288G>T (p.Ser763Ile)
c.626G>T (p.Ser209Ile)
c.3095G>T (p.Ser1032Ile)
c.3020G>T (p.Ser1007Ile)
 gnomAD v4
4g.183289494C>ACA3150306WWC2c.3243C>A (p.Ser1081Arg)
c.*2635C>A (n.*2635C>A)
c.*1039C>A (n.*1039C>A)
c.3315C>A (p.Ser1105Arg)
c.2289C>A (p.Ser763Arg)
c.627C>A (p.Ser209Arg)
c.3096C>A (p.Ser1032Arg)
c.3021C>A (p.Ser1007Arg)
 dbSNP ExAC gnomAD v2
4g.183289494C=CA1518546723WWC2c.3243C= (p.Ser1081=)
c.*2635C= (n.*2635C=)
c.*1039C= (n.*1039C=)
c.3315C= (p.Ser1105=)
c.2289C= (p.Ser763=)
c.627C= (p.Ser209=)
c.3096C= (p.Ser1032=)
c.3021C= (p.Ser1007=)
4g.183289494C>GCA358846020WWC2c.3243C>G (p.Ser1081Arg)
c.*2635C>G (n.*2635C>G)
c.*1039C>G (n.*1039C>G)
c.3315C>G (p.Ser1105Arg)
c.2289C>G (p.Ser763Arg)
c.627C>G (p.Ser209Arg)
c.3096C>G (p.Ser1032Arg)
c.3021C>G (p.Ser1007Arg)
4g.183289494C>TCA442557637WWC2c.3243C>T (p.Ser1081=)
c.*2635C>T (n.*2635C>T)
c.*1039C>T (n.*1039C>T)
c.3315C>T (p.Ser1105=)
c.2289C>T (p.Ser763=)
c.627C>T (p.Ser209=)
c.3096C>T (p.Ser1032=)
c.3021C>T (p.Ser1007=)
4g.183289495C>ACA358846022WWC2c.3244C>A (p.Arg1082Ser)
c.*2636C>A (n.*2636C>A)
c.*1040C>A (n.*1040C>A)
c.3316C>A (p.Arg1106Ser)
c.2290C>A (p.Arg764Ser)
c.628C>A (p.Arg210Ser)
c.3097C>A (p.Arg1033Ser)
c.3022C>A (p.Arg1008Ser)
4g.183289495C=CA1518546724WWC2c.3244C= (p.Arg1082=)
c.*2636C= (n.*2636C=)
c.*1040C= (n.*1040C=)
c.3316C= (p.Arg1106=)
c.2290C= (p.Arg764=)
c.628C= (p.Arg210=)
c.3097C= (p.Arg1033=)
c.3022C= (p.Arg1008=)
4g.183289495C>GCA358846024WWC2c.3244C>G (p.Arg1082Gly)
c.*2636C>G (n.*2636C>G)
c.*1040C>G (n.*1040C>G)
c.3316C>G (p.Arg1106Gly)
c.2290C>G (p.Arg764Gly)
c.628C>G (p.Arg210Gly)
c.3097C>G (p.Arg1033Gly)
c.3022C>G (p.Arg1008Gly)
4g.183289495C>TCA3150307WWC2c.3244C>T (p.Arg1082Cys)
c.*2636C>T (n.*2636C>T)
c.*1040C>T (n.*1040C>T)
c.3316C>T (p.Arg1106Cys)
c.2290C>T (p.Arg764Cys)
c.628C>T (p.Arg210Cys)
c.3097C>T (p.Arg1033Cys)
c.3022C>T (p.Arg1008Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
4g.183289496G>ACA3150309WWC2c.3245G>A (p.Arg1082His)
c.*2637G>A (n.*2637G>A)
c.*1041G>A (n.*1041G>A)
c.3317G>A (p.Arg1106His)
c.2291G>A (p.Arg764His)
c.629G>A (p.Arg210His)
c.3098G>A (p.Arg1033His)
c.3023G>A (p.Arg1008His)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
4g.183289496G>CCA358846028WWC2c.3245G>C (p.Arg1082Pro)
c.*2637G>C (n.*2637G>C)
c.*1041G>C (n.*1041G>C)
c.3317G>C (p.Arg1106Pro)
c.2291G>C (p.Arg764Pro)
c.629G>C (p.Arg210Pro)
c.3098G>C (p.Arg1033Pro)
c.3023G>C (p.Arg1008Pro)
 gnomAD v4
4g.183289496G=CA1518546725WWC2c.3245G= (p.Arg1082=)
c.*2637G= (n.*2637G=)
c.*1041G= (n.*1041G=)
c.3317G= (p.Arg1106=)
c.2291G= (p.Arg764=)
c.629G= (p.Arg210=)
c.3098G= (p.Arg1033=)
c.3023G= (p.Arg1008=)
4g.183289496G>TCA3150308WWC2c.3245G>T (p.Arg1082Leu)
c.*2637G>T (n.*2637G>T)
c.*1041G>T (n.*1041G>T)
c.3317G>T (p.Arg1106Leu)
c.2291G>T (p.Arg764Leu)
c.629G>T (p.Arg210Leu)
c.3098G>T (p.Arg1033Leu)
c.3023G>T (p.Arg1008Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.183289497C>ACA442557638WWC2c.3246C>A (p.Arg1082=)
c.*2638C>A (n.*2638C>A)
c.*1042C>A (n.*1042C>A)
c.3318C>A (p.Arg1106=)
c.2292C>A (p.Arg764=)
c.630C>A (p.Arg210=)
c.3099C>A (p.Arg1033=)
c.3024C>A (p.Arg1008=)
4g.183289497C>GCA442557639WWC2c.3246C>G (p.Arg1082=)
c.*2638C>G (n.*2638C>G)
c.*1042C>G (n.*1042C>G)
c.3318C>G (p.Arg1106=)
c.2292C>G (p.Arg764=)
c.630C>G (p.Arg210=)
c.3099C>G (p.Arg1033=)
c.3024C>G (p.Arg1008=)
4g.183289497C>TCA442557640WWC2c.3246C>T (p.Arg1082=)
c.*2638C>T (n.*2638C>T)
c.*1042C>T (n.*1042C>T)
c.3318C>T (p.Arg1106=)
c.2292C>T (p.Arg764=)
c.630C>T (p.Arg210=)
c.3099C>T (p.Arg1033=)
c.3024C>T (p.Arg1008=)
4g.183289498C>ACA358846032WWC2c.3247C>A (p.Leu1083Ile)
c.*2639C>A (n.*2639C>A)
c.*1043C>A (n.*1043C>A)
c.3319C>A (p.Leu1107Ile)
c.2293C>A (p.Leu765Ile)
c.631C>A (p.Leu211Ile)
c.3100C>A (p.Leu1034Ile)
c.3025C>A (p.Leu1009Ile)
4g.183289498C=CA1518546726WWC2c.3247C= (p.Leu1083=)
c.*2639C= (n.*2639C=)
c.*1043C= (n.*1043C=)
c.3319C= (p.Leu1107=)
c.2293C= (p.Leu765=)
c.631C= (p.Leu211=)
c.3100C= (p.Leu1034=)
c.3025C= (p.Leu1009=)
4g.183289498C>GCA3150310WWC2c.3247C>G (p.Leu1083Val)
c.*2639C>G (n.*2639C>G)
c.*1043C>G (n.*1043C>G)
c.3319C>G (p.Leu1107Val)
c.2293C>G (p.Leu765Val)
c.631C>G (p.Leu211Val)
c.3100C>G (p.Leu1034Val)
c.3025C>G (p.Leu1009Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.183289498C>TCA358846034WWC2c.3247C>T (p.Leu1083Phe)
c.*2639C>T (n.*2639C>T)
c.*1043C>T (n.*1043C>T)
c.3319C>T (p.Leu1107Phe)
c.2293C>T (p.Leu765Phe)
c.631C>T (p.Leu211Phe)
c.3100C>T (p.Leu1034Phe)
c.3025C>T (p.Leu1009Phe)
4g.183289499T>ACA358846036WWC2c.3248T>A (p.Leu1083His)
c.*2640T>A (n.*2640T>A)
c.*1044T>A (n.*1044T>A)
c.3320T>A (p.Leu1107His)
c.2294T>A (p.Leu765His)
c.632T>A (p.Leu211His)
c.3101T>A (p.Leu1034His)
c.3026T>A (p.Leu1009His)
4g.183289499T>CCA358846038WWC2c.3248T>C (p.Leu1083Pro)
c.*2640T>C (n.*2640T>C)
c.*1044T>C (n.*1044T>C)
c.3320T>C (p.Leu1107Pro)
c.2294T>C (p.Leu765Pro)
c.632T>C (p.Leu211Pro)
c.3101T>C (p.Leu1034Pro)
c.3026T>C (p.Leu1009Pro)
4g.183289499T>GCA358846040WWC2c.3248T>G (p.Leu1083Arg)
c.*2640T>G (n.*2640T>G)
c.*1044T>G (n.*1044T>G)
c.3320T>G (p.Leu1107Arg)
c.2294T>G (p.Leu765Arg)
c.632T>G (p.Leu211Arg)
c.3101T>G (p.Leu1034Arg)
c.3026T>G (p.Leu1009Arg)
4g.183289500C>ACA442557641WWC2c.3249C>A (p.Leu1083=)
c.*2641C>A (n.*2641C>A)
c.*1045C>A (n.*1045C>A)
c.3321C>A (p.Leu1107=)
c.2295C>A (p.Leu765=)
c.633C>A (p.Leu211=)
c.3102C>A (p.Leu1034=)
c.3027C>A (p.Leu1009=)
4g.183289500C>GCA442557642WWC2c.3249C>G (p.Leu1083=)
c.*2641C>G (n.*2641C>G)
c.*1045C>G (n.*1045C>G)
c.3321C>G (p.Leu1107=)
c.2295C>G (p.Leu765=)
c.633C>G (p.Leu211=)
c.3102C>G (p.Leu1034=)
c.3027C>G (p.Leu1009=)
4g.183289500C>TCA442557643WWC2c.3249C>T (p.Leu1083=)
c.*2641C>T (n.*2641C>T)
c.*1045C>T (n.*1045C>T)
c.3321C>T (p.Leu1107=)
c.2295C>T (p.Leu765=)
c.633C>T (p.Leu211=)
c.3102C>T (p.Leu1034=)
c.3027C>T (p.Leu1009=)
4g.183289500_183289503delinsCAATCA1518546727WWC2c.3249_3252delinsCAAT (p.Leu1083=)
c.*2641_*2644delinsCAAT (n.*2641_*2644delinsCAAT)
c.*1045_*1048delinsCAAT (n.*1045_*1048delinsCAAT)
c.3321_3324delinsCAAT (p.Leu1107=)
c.2295_2298delinsCAAT (p.Leu765=)
c.633_636delinsCAAT (p.Leu211=)
c.3102_3105delinsCAAT (p.Leu1034=)
c.3027_3030delinsCAAT (p.Leu1009=)
4g.183289501A=CA1518546728WWC2c.3250A= (p.Asn1084=)
c.*2642A= (n.*2642A=)
c.*1046A= (n.*1046A=)
c.3322A= (p.Asn1108=)
c.2296A= (p.Asn766=)
c.634A= (p.Asn212=)
c.3103A= (p.Asn1035=)
c.3028A= (p.Asn1010=)
4g.183289501A>CCA358846042WWC2c.3250A>C (p.Asn1084His)
c.*2642A>C (n.*2642A>C)
c.*1046A>C (n.*1046A>C)
c.3322A>C (p.Asn1108His)
c.2296A>C (p.Asn766His)
c.634A>C (p.Asn212His)
c.3103A>C (p.Asn1035His)
c.3028A>C (p.Asn1010His)
4g.183289501A>GCA358846044WWC2c.3250A>G (p.Asn1084Asp)
c.*2642A>G (n.*2642A>G)
c.*1046A>G (n.*1046A>G)
c.3322A>G (p.Asn1108Asp)
c.2296A>G (p.Asn766Asp)
c.634A>G (p.Asn212Asp)
c.3103A>G (p.Asn1035Asp)
c.3028A>G (p.Asn1010Asp)
4g.183289501A>TCA358846045WWC2c.3250A>T (p.Asn1084Tyr)
c.*2642A>T (n.*2642A>T)
c.*1046A>T (n.*1046A>T)
c.3322A>T (p.Asn1108Tyr)
c.2296A>T (p.Asn766Tyr)
c.634A>T (p.Asn212Tyr)
c.3103A>T (p.Asn1035Tyr)
c.3028A>T (p.Asn1010Tyr)
4g.183289501_183289503delCA557393628WWC2c.3250_3252del (p.Asn1084del)
c.*2642_*2644del (n.*2642_*2644del)
c.*1046_*1048del (n.*1046_*1048del)
c.3322_3324del (p.Asn1108del)
c.2296_2298del (p.Asn766del)
c.634_636del (p.Asn212del)
c.3103_3105del (p.Asn1035del)
c.3028_3030del (p.Asn1010del)
 dbSNP gnomAD v2 gnomAD v4
4g.183289502A=CA1518546729WWC2c.3251A= (p.Asn1084=)
c.*2643A= (n.*2643A=)
c.*1047A= (n.*1047A=)
c.3323A= (p.Asn1108=)
c.2297A= (p.Asn766=)
c.635A= (p.Asn212=)
c.3104A= (p.Asn1035=)
c.3029A= (p.Asn1010=)
4g.183289502A>CCA111773497WWC2c.3251A>C (p.Asn1084Thr)
c.*2643A>C (n.*2643A>C)
c.*1047A>C (n.*1047A>C)
c.3323A>C (p.Asn1108Thr)
c.2297A>C (p.Asn766Thr)
c.635A>C (p.Asn212Thr)
c.3104A>C (p.Asn1035Thr)
c.3029A>C (p.Asn1010Thr)
 dbSNP
4g.183289502A>GCA3150311WWC2c.3251A>G (p.Asn1084Ser)
c.*2643A>G (n.*2643A>G)
c.*1047A>G (n.*1047A>G)
c.3323A>G (p.Asn1108Ser)
c.2297A>G (p.Asn766Ser)
c.635A>G (p.Asn212Ser)
c.3104A>G (p.Asn1035Ser)
c.3029A>G (p.Asn1010Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.183289502A>TCA358846047WWC2c.3251A>T (p.Asn1084Ile)
c.*2643A>T (n.*2643A>T)
c.*1047A>T (n.*1047A>T)
c.3323A>T (p.Asn1108Ile)
c.2297A>T (p.Asn766Ile)
c.635A>T (p.Asn212Ile)
c.3104A>T (p.Asn1035Ile)
c.3029A>T (p.Asn1010Ile)
4g.183289506_183289508dupCA557393629WWC2c.3255_3257dup (p.Asp1085_Glu1086insAsp)
c.*2647_*2649dup (n.*2647_*2649dup)
c.*1051_*1053dup (n.*1051_*1053dup)
c.3327_3329dup (p.Asp1109_Glu1110insAsp)
c.2301_2303dup (p.Asp767_Glu768insAsp)
c.639_641dup (p.Asp213_Glu214insAsp)
c.3108_3110dup (p.Asp1036_Glu1037insAsp)
c.3033_3035dup (p.Asp1011_Glu1012insAsp)
 dbSNP gnomAD v2 gnomAD v4
4g.183289503T>ACA358846049WWC2c.3252T>A (p.Asn1084Lys)
c.*2644T>A (n.*2644T>A)
c.*1048T>A (n.*1048T>A)
c.3324T>A (p.Asn1108Lys)
c.2298T>A (p.Asn766Lys)
c.636T>A (p.Asn212Lys)
c.3105T>A (p.Asn1035Lys)
c.3030T>A (p.Asn1010Lys)
4g.183289503T>CCA3150312WWC2c.3252T>C (p.Asn1084=)
c.*2644T>C (n.*2644T>C)
c.*1048T>C (n.*1048T>C)
c.3324T>C (p.Asn1108=)
c.2298T>C (p.Asn766=)
c.636T>C (p.Asn212=)
c.3105T>C (p.Asn1035=)
c.3030T>C (p.Asn1010=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.183289503T>GCA358846051WWC2c.3252T>G (p.Asn1084Lys)
c.*2644T>G (n.*2644T>G)
c.*1048T>G (n.*1048T>G)
c.3324T>G (p.Asn1108Lys)
c.2298T>G (p.Asn766Lys)
c.636T>G (p.Asn212Lys)
c.3105T>G (p.Asn1035Lys)
c.3030T>G (p.Asn1010Lys)
4g.183289503T=CA1518546730WWC2c.3252T= (p.Asn1084=)
c.*2644T= (n.*2644T=)
c.*1048T= (n.*1048T=)
c.3324T= (p.Asn1108=)
c.2298T= (p.Asn766=)
c.636T= (p.Asn212=)
c.3105T= (p.Asn1035=)
c.3030T= (p.Asn1010=)
4g.183289504delCA2672776333WWC2c.3253del (p.Asp1085MetfsTer6)
c.*2645del (n.*2645del)
c.*1049del (n.*1049del)
c.3325del (p.Asp1109MetfsTer6)
c.2299del (p.Asp767MetfsTer6)
c.637del (p.Asp213MetfsTer6)
c.3106del (p.Asp1036MetfsTer6)
c.3031del (p.Asp1011MetfsTer6)
 gnomAD v4
4g.183289504G>ACA358846054WWC2c.3253G>A (p.Asp1085Asn)
c.*2645G>A (n.*2645G>A)
c.*1049G>A (n.*1049G>A)
c.3325G>A (p.Asp1109Asn)
c.2299G>A (p.Asp767Asn)
c.637G>A (p.Asp213Asn)
c.3106G>A (p.Asp1036Asn)
c.3031G>A (p.Asp1011Asn)
4g.183289504G>CCA358846055WWC2c.3253G>C (p.Asp1085His)
c.*2645G>C (n.*2645G>C)
c.*1049G>C (n.*1049G>C)
c.3325G>C (p.Asp1109His)
c.2299G>C (p.Asp767His)
c.637G>C (p.Asp213His)
c.3106G>C (p.Asp1036His)
c.3031G>C (p.Asp1011His)
 gnomAD v4
4g.183289504G>TCA358846057WWC2c.3253G>T (p.Asp1085Tyr)
c.*2645G>T (n.*2645G>T)
c.*1049G>T (n.*1049G>T)
c.3325G>T (p.Asp1109Tyr)
c.2299G>T (p.Asp767Tyr)
c.637G>T (p.Asp213Tyr)
c.3106G>T (p.Asp1036Tyr)
c.3031G>T (p.Asp1011Tyr)
4g.183289505A=CA1518546731WWC2c.3254A= (p.Asp1085=)
c.*2646A= (n.*2646A=)
c.*1050A= (n.*1050A=)
c.3326A= (p.Asp1109=)
c.2300A= (p.Asp767=)
c.638A= (p.Asp213=)
c.3107A= (p.Asp1036=)
c.3032A= (p.Asp1011=)
4g.183289505A>CCA358846059WWC2c.3254A>C (p.Asp1085Ala)
c.*2646A>C (n.*2646A>C)
c.*1050A>C (n.*1050A>C)
c.3326A>C (p.Asp1109Ala)
c.2300A>C (p.Asp767Ala)
c.638A>C (p.Asp213Ala)
c.3107A>C (p.Asp1036Ala)
c.3032A>C (p.Asp1011Ala)
4g.183289505A>GCA358846060WWC2c.3254A>G (p.Asp1085Gly)
c.*2646A>G (n.*2646A>G)
c.*1050A>G (n.*1050A>G)
c.3326A>G (p.Asp1109Gly)
c.2300A>G (p.Asp767Gly)
c.638A>G (p.Asp213Gly)
c.3107A>G (p.Asp1036Gly)
c.3032A>G (p.Asp1011Gly)
 dbSNP gnomAD v3 gnomAD v4
4g.183289505A>TCA358846062WWC2c.3254A>T (p.Asp1085Val)
c.*2646A>T (n.*2646A>T)
c.*1050A>T (n.*1050A>T)
c.3326A>T (p.Asp1109Val)
c.2300A>T (p.Asp767Val)
c.638A>T (p.Asp213Val)
c.3107A>T (p.Asp1036Val)
c.3032A>T (p.Asp1011Val)
4g.183289506T>ACA358846064WWC2c.3255T>A (p.Asp1085Glu)
c.*2647T>A (n.*2647T>A)
c.*1051T>A (n.*1051T>A)
c.3327T>A (p.Asp1109Glu)
c.2301T>A (p.Asp767Glu)
c.639T>A (p.Asp213Glu)
c.3108T>A (p.Asp1036Glu)
c.3033T>A (p.Asp1011Glu)
4g.183289506T>CCA442557644WWC2c.3255T>C (p.Asp1085=)
c.*2647T>C (n.*2647T>C)
c.*1051T>C (n.*1051T>C)
c.3327T>C (p.Asp1109=)
c.2301T>C (p.Asp767=)
c.639T>C (p.Asp213=)
c.3108T>C (p.Asp1036=)
c.3033T>C (p.Asp1011=)
4g.183289506T>GCA358846066WWC2c.3255T>G (p.Asp1085Glu)
c.*2647T>G (n.*2647T>G)
c.*1051T>G (n.*1051T>G)
c.3327T>G (p.Asp1109Glu)
c.2301T>G (p.Asp767Glu)
c.639T>G (p.Asp213Glu)
c.3108T>G (p.Asp1036Glu)
c.3033T>G (p.Asp1011Glu)
4g.183289507G>ACA358846068WWC2c.3256G>A (p.Glu1086Lys)
c.*2648G>A (n.*2648G>A)
c.*1052G>A (n.*1052G>A)
c.3328G>A (p.Glu1110Lys)
c.2302G>A (p.Glu768Lys)
c.640G>A (p.Glu214Lys)
c.3109G>A (p.Glu1037Lys)
c.3034G>A (p.Glu1012Lys)
4g.183289507G>CCA358846070WWC2c.3256G>C (p.Glu1086Gln)
c.*2648G>C (n.*2648G>C)
c.*1052G>C (n.*1052G>C)
c.3328G>C (p.Glu1110Gln)
c.2302G>C (p.Glu768Gln)
c.640G>C (p.Glu214Gln)
c.3109G>C (p.Glu1037Gln)
c.3034G>C (p.Glu1012Gln)
4g.183289507G>TCA358846072WWC2c.3256G>T (p.Glu1086Ter)
c.*2648G>T (n.*2648G>T)
c.*1052G>T (n.*1052G>T)
c.3328G>T (p.Glu1110Ter)
c.2302G>T (p.Glu768Ter)
c.640G>T (p.Glu214Ter)
c.3109G>T (p.Glu1037Ter)
c.3034G>T (p.Glu1012Ter)
4g.183289508A>CCA358846078WWC2c.3257A>C (p.Glu1086Ala)
c.*2649A>C (n.*2649A>C)
c.*1053A>C (n.*1053A>C)
c.3329A>C (p.Glu1110Ala)
c.2303A>C (p.Glu768Ala)
c.641A>C (p.Glu214Ala)
c.3110A>C (p.Glu1037Ala)
c.3035A>C (p.Glu1012Ala)
 gnomAD v4
4g.183289508A>GCA358846076WWC2c.3257A>G (p.Glu1086Gly)
c.*2649A>G (n.*2649A>G)
c.*1053A>G (n.*1053A>G)
c.3329A>G (p.Glu1110Gly)
c.2303A>G (p.Glu768Gly)
c.641A>G (p.Glu214Gly)
c.3110A>G (p.Glu1037Gly)
c.3035A>G (p.Glu1012Gly)
4g.183289508A>TCA358846074WWC2c.3257A>T (p.Glu1086Val)
c.*2649A>T (n.*2649A>T)
c.*1053A>T (n.*1053A>T)
c.3329A>T (p.Glu1110Val)
c.2303A>T (p.Glu768Val)
c.641A>T (p.Glu214Val)
c.3110A>T (p.Glu1037Val)
c.3035A>T (p.Glu1012Val)
4g.183289509G>ACA442557645WWC2c.3258G>A (p.Glu1086=)
c.*2650G>A (n.*2650G>A)
c.*1054G>A (n.*1054G>A)
c.3330G>A (p.Glu1110=)
c.2304G>A (p.Glu768=)
c.642G>A (p.Glu214=)
c.3111G>A (p.Glu1037=)
c.3036G>A (p.Glu1012=)
 dbSNP gnomAD v2
4g.183289509G>CCA358846079WWC2c.3258G>C (p.Glu1086Asp)
c.*2650G>C (n.*2650G>C)
c.*1054G>C (n.*1054G>C)
c.3330G>C (p.Glu1110Asp)
c.2304G>C (p.Glu768Asp)
c.642G>C (p.Glu214Asp)
c.3111G>C (p.Glu1037Asp)
c.3036G>C (p.Glu1012Asp)
4g.183289509G=CA1518546732WWC2c.3258G= (p.Glu1086=)
c.*2650G= (n.*2650G=)
c.*1054G= (n.*1054G=)
c.3330G= (p.Glu1110=)
c.2304G= (p.Glu768=)
c.642G= (p.Glu214=)
c.3111G= (p.Glu1037=)
c.3036G= (p.Glu1012=)
4g.183289509G>TCA358846080WWC2c.3258G>T (p.Glu1086Asp)
c.*2650G>T (n.*2650G>T)
c.*1054G>T (n.*1054G>T)
c.3330G>T (p.Glu1110Asp)
c.2304G>T (p.Glu768Asp)
c.642G>T (p.Glu214Asp)
c.3111G>T (p.Glu1037Asp)
c.3036G>T (p.Glu1012Asp)
4g.183289510C>ACA358846083WWC2c.3259C>A (p.Leu1087Met)
c.*2651C>A (n.*2651C>A)
c.*1055C>A (n.*1055C>A)
c.3331C>A (p.Leu1111Met)
c.2305C>A (p.Leu769Met)
c.643C>A (p.Leu215Met)
c.3112C>A (p.Leu1038Met)
c.3037C>A (p.Leu1013Met)
4g.183289510C>GCA358846084WWC2c.3259C>G (p.Leu1087Val)
c.*2651C>G (n.*2651C>G)
c.*1055C>G (n.*1055C>G)
c.3331C>G (p.Leu1111Val)
c.2305C>G (p.Leu769Val)
c.643C>G (p.Leu215Val)
c.3112C>G (p.Leu1038Val)
c.3037C>G (p.Leu1013Val)
4g.183289510C>TCA442557646WWC2c.3259C>T (p.Leu1087=)
c.*2651C>T (n.*2651C>T)
c.*1055C>T (n.*1055C>T)
c.3331C>T (p.Leu1111=)
c.2305C>T (p.Leu769=)
c.643C>T (p.Leu215=)
c.3112C>T (p.Leu1038=)
c.3037C>T (p.Leu1013=)
4g.183289511T>ACA358846087WWC2c.3260T>A (p.Leu1087Gln)
c.*2652T>A (n.*2652T>A)
c.*1056T>A (n.*1056T>A)
c.3332T>A (p.Leu1111Gln)
c.2306T>A (p.Leu769Gln)
c.644T>A (p.Leu215Gln)
c.3113T>A (p.Leu1038Gln)
c.3038T>A (p.Leu1013Gln)
4g.183289511T>CCA204220WWC2c.3260T>C (p.Leu1087Pro)
c.*2652T>C (n.*2652T>C)
c.*1056T>C (n.*1056T>C)
c.3332T>C (p.Leu1111Pro)
c.2306T>C (p.Leu769Pro)
c.644T>C (p.Leu215Pro)
c.3113T>C (p.Leu1038Pro)
c.3038T>C (p.Leu1013Pro)
 ClinVar dbSNP gnomAD v4
4g.183289511T>GCA358846090WWC2c.3260T>G (p.Leu1087Arg)
c.*2652T>G (n.*2652T>G)
c.*1056T>G (n.*1056T>G)
c.3332T>G (p.Leu1111Arg)
c.2306T>G (p.Leu769Arg)
c.644T>G (p.Leu215Arg)
c.3113T>G (p.Leu1038Arg)
c.3038T>G (p.Leu1013Arg)
4g.183289511T=CA1518546733WWC2c.3260T= (p.Leu1087=)
c.*2652T= (n.*2652T=)
c.*1056T= (n.*1056T=)
c.3332T= (p.Leu1111=)
c.2306T= (p.Leu769=)
c.644T= (p.Leu215=)
c.3113T= (p.Leu1038=)
c.3038T= (p.Leu1013=)

Number of alleles fetched