UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.110004554_110004573dup | CA2671756214 | EGF | c.3223_3242dup (p.Arg1082AlafsTer4) c.2854_2873dup (p.Arg959AlafsTer4) c.3100_3119dup (p.Arg1041AlafsTer4) c.3097_3116dup (p.Arg1040AlafsTer4) n.908_927dup n.54_73dup n.308_327dup c.2980_2999dup (p.Arg1001AlafsTer4) c.2492-6648_2492-6629dup (n.2492-6648_2492-6629dup) c.3112_3131dup (p.Arg1045AlafsTer4) n.3237_3256dup c.3247_3266dup (p.Arg1090AlafsTer4) c.3124_3143dup (p.Arg1049AlafsTer4) c.3121_3140dup (p.Arg1048AlafsTer4) c.3004_3023dup (p.Arg1009AlafsTer4) n.3261_3280dup | gnomAD v4 |
| 4 | g.110004549A>C | CA357874649 | EGF | c.3218A>C (p.Glu1073Ala) c.2849A>C (p.Glu950Ala) c.3095A>C (p.Glu1032Ala) c.3092A>C (p.Glu1031Ala) n.903A>C n.49A>C n.303A>C c.2975A>C (p.Glu992Ala) c.2492-6653A>C (n.2492-6653A>C) c.3107A>C (p.Glu1036Ala) n.3232A>C c.3242A>C (p.Glu1081Ala) c.3119A>C (p.Glu1040Ala) c.3116A>C (p.Glu1039Ala) c.2999A>C (p.Glu1000Ala) n.3256A>C | |
| 4 | g.110004549A>G | CA357874647 | EGF | c.3218A>G (p.Glu1073Gly) c.2849A>G (p.Glu950Gly) c.3095A>G (p.Glu1032Gly) c.3092A>G (p.Glu1031Gly) n.903A>G n.49A>G n.303A>G c.2975A>G (p.Glu992Gly) c.2492-6653A>G (n.2492-6653A>G) c.3107A>G (p.Glu1036Gly) n.3232A>G c.3242A>G (p.Glu1081Gly) c.3119A>G (p.Glu1040Gly) c.3116A>G (p.Glu1039Gly) c.2999A>G (p.Glu1000Gly) n.3256A>G | |
| 4 | g.110004549A>T | CA357874648 | EGF | c.3218A>T (p.Glu1073Val) c.2849A>T (p.Glu950Val) c.3095A>T (p.Glu1032Val) c.3092A>T (p.Glu1031Val) n.903A>T n.49A>T n.303A>T c.2975A>T (p.Glu992Val) c.2492-6653A>T (n.2492-6653A>T) c.3107A>T (p.Glu1036Val) n.3232A>T c.3242A>T (p.Glu1081Val) c.3119A>T (p.Glu1040Val) c.3116A>T (p.Glu1039Val) c.2999A>T (p.Glu1000Val) n.3256A>T | |
| 4 | g.110004550G>A | CA440593654 | EGF | c.3219G>A (p.Glu1073=) c.2850G>A (p.Glu950=) c.3096G>A (p.Glu1032=) c.3093G>A (p.Glu1031=) n.904G>A n.50G>A n.304G>A c.2976G>A (p.Glu992=) c.2492-6652G>A (n.2492-6652G>A) c.3108G>A (p.Glu1036=) n.3233G>A c.3243G>A (p.Glu1081=) c.3120G>A (p.Glu1040=) c.3117G>A (p.Glu1039=) c.3000G>A (p.Glu1000=) n.3257G>A | |
| 4 | g.110004550G>C | CA357874650 | EGF | c.3219G>C (p.Glu1073Asp) c.2850G>C (p.Glu950Asp) c.3096G>C (p.Glu1032Asp) c.3093G>C (p.Glu1031Asp) n.904G>C n.50G>C n.304G>C c.2976G>C (p.Glu992Asp) c.2492-6652G>C (n.2492-6652G>C) c.3108G>C (p.Glu1036Asp) n.3233G>C c.3243G>C (p.Glu1081Asp) c.3120G>C (p.Glu1040Asp) c.3117G>C (p.Glu1039Asp) c.3000G>C (p.Glu1000Asp) n.3257G>C | |
| 4 | g.110004550G>T | CA357874651 | EGF | c.3219G>T (p.Glu1073Asp) c.2850G>T (p.Glu950Asp) c.3096G>T (p.Glu1032Asp) c.3093G>T (p.Glu1031Asp) n.904G>T n.50G>T n.304G>T c.2976G>T (p.Glu992Asp) c.2492-6652G>T (n.2492-6652G>T) c.3108G>T (p.Glu1036Asp) n.3233G>T c.3243G>T (p.Glu1081Asp) c.3120G>T (p.Glu1040Asp) c.3117G>T (p.Glu1039Asp) c.3000G>T (p.Glu1000Asp) n.3257G>T | |
| 4 | g.110004551T>A | CA357874652 | EGF | c.3220T>A (p.Ser1074Thr) c.2851T>A (p.Ser951Thr) c.3097T>A (p.Ser1033Thr) c.3094T>A (p.Ser1032Thr) n.905T>A n.51T>A n.305T>A c.2977T>A (p.Ser993Thr) c.2492-6651T>A (n.2492-6651T>A) c.3109T>A (p.Ser1037Thr) n.3234T>A c.3244T>A (p.Ser1082Thr) c.3121T>A (p.Ser1041Thr) c.3118T>A (p.Ser1040Thr) c.3001T>A (p.Ser1001Thr) n.3258T>A | |
| 4 | g.110004551T>C | CA357874653 | EGF | c.3220T>C (p.Ser1074Pro) c.2851T>C (p.Ser951Pro) c.3097T>C (p.Ser1033Pro) c.3094T>C (p.Ser1032Pro) n.905T>C n.51T>C n.305T>C c.2977T>C (p.Ser993Pro) c.2492-6651T>C (n.2492-6651T>C) c.3109T>C (p.Ser1037Pro) n.3234T>C c.3244T>C (p.Ser1082Pro) c.3121T>C (p.Ser1041Pro) c.3118T>C (p.Ser1040Pro) c.3001T>C (p.Ser1001Pro) n.3258T>C | |
| 4 | g.110004551T>G | CA357874654 | EGF | c.3220T>G (p.Ser1074Ala) c.2851T>G (p.Ser951Ala) c.3097T>G (p.Ser1033Ala) c.3094T>G (p.Ser1032Ala) n.905T>G n.51T>G n.305T>G c.2977T>G (p.Ser993Ala) c.2492-6651T>G (n.2492-6651T>G) c.3109T>G (p.Ser1037Ala) n.3234T>G c.3244T>G (p.Ser1082Ala) c.3121T>G (p.Ser1041Ala) c.3118T>G (p.Ser1040Ala) c.3001T>G (p.Ser1001Ala) n.3258T>G | |
| 4 | g.110004552C>A | CA357874655 | EGF | c.3221C>A (p.Ser1074Ter) c.2852C>A (p.Ser951Ter) c.3098C>A (p.Ser1033Ter) c.3095C>A (p.Ser1032Ter) n.906C>A n.52C>A n.306C>A c.2978C>A (p.Ser993Ter) c.2492-6650C>A (n.2492-6650C>A) c.3110C>A (p.Ser1037Ter) n.3235C>A c.3245C>A (p.Ser1082Ter) c.3122C>A (p.Ser1041Ter) c.3119C>A (p.Ser1040Ter) c.3002C>A (p.Ser1001Ter) n.3259C>A | |
| 4 | g.110004552C= | CA1484838620 | EGF | c.3221C= (p.Ser1074=) c.2852C= (p.Ser951=) c.3098C= (p.Ser1033=) c.3095C= (p.Ser1032=) n.906C= n.52C= n.306C= c.2978C= (p.Ser993=) c.2492-6650C= (n.2492-6650C=) c.3110C= (p.Ser1037=) n.3235C= c.3245C= (p.Ser1082=) c.3122C= (p.Ser1041=) c.3119C= (p.Ser1040=) c.3002C= (p.Ser1001=) n.3259C= | |
| 4 | g.110004552C>G | CA357874656 | EGF | c.3221C>G (p.Ser1074Trp) c.2852C>G (p.Ser951Trp) c.3098C>G (p.Ser1033Trp) c.3095C>G (p.Ser1032Trp) n.906C>G n.52C>G n.306C>G c.2978C>G (p.Ser993Trp) c.2492-6650C>G (n.2492-6650C>G) c.3110C>G (p.Ser1037Trp) n.3235C>G c.3245C>G (p.Ser1082Trp) c.3122C>G (p.Ser1041Trp) c.3119C>G (p.Ser1040Trp) c.3002C>G (p.Ser1001Trp) n.3259C>G | |
| 4 | g.110004552C>T | CA3044216 | EGF | c.3221C>T (p.Ser1074Leu) c.2852C>T (p.Ser951Leu) c.3098C>T (p.Ser1033Leu) c.3095C>T (p.Ser1032Leu) n.906C>T n.52C>T n.306C>T c.2978C>T (p.Ser993Leu) c.2492-6650C>T (n.2492-6650C>T) c.3110C>T (p.Ser1037Leu) n.3235C>T c.3245C>T (p.Ser1082Leu) c.3122C>T (p.Ser1041Leu) c.3119C>T (p.Ser1040Leu) c.3002C>T (p.Ser1001Leu) n.3259C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110004553G>A | CA3044217 | EGF | c.3222G>A (p.Ser1074=) c.2853G>A (p.Ser951=) c.3099G>A (p.Ser1033=) c.3096G>A (p.Ser1032=) n.907G>A n.53G>A n.307G>A c.2979G>A (p.Ser993=) c.2492-6649G>A (n.2492-6649G>A) c.3111G>A (p.Ser1037=) n.3236G>A c.3246G>A (p.Ser1082=) c.3123G>A (p.Ser1041=) c.3120G>A (p.Ser1040=) c.3003G>A (p.Ser1001=) n.3260G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110004553G>C | CA440593657 | EGF | c.3222G>C (p.Ser1074=) c.2853G>C (p.Ser951=) c.3099G>C (p.Ser1033=) c.3096G>C (p.Ser1032=) n.907G>C n.53G>C n.307G>C c.2979G>C (p.Ser993=) c.2492-6649G>C (n.2492-6649G>C) c.3111G>C (p.Ser1037=) n.3236G>C c.3246G>C (p.Ser1082=) c.3123G>C (p.Ser1041=) c.3120G>C (p.Ser1040=) c.3003G>C (p.Ser1001=) n.3260G>C | gnomAD v4 |
| 4 | g.110004553G= | CA1484838622 | EGF | c.3222G= (p.Ser1074=) c.2853G= (p.Ser951=) c.3099G= (p.Ser1033=) c.3096G= (p.Ser1032=) n.907G= n.53G= n.307G= c.2979G= (p.Ser993=) c.2492-6649G= (n.2492-6649G=) c.3111G= (p.Ser1037=) n.3236G= c.3246G= (p.Ser1082=) c.3123G= (p.Ser1041=) c.3120G= (p.Ser1040=) c.3003G= (p.Ser1001=) n.3260G= | |
| 4 | g.110004553G>T | CA440593658 | EGF | c.3222G>T (p.Ser1074=) c.2853G>T (p.Ser951=) c.3099G>T (p.Ser1033=) c.3096G>T (p.Ser1032=) n.907G>T n.53G>T n.307G>T c.2979G>T (p.Ser993=) c.2492-6649G>T (n.2492-6649G>T) c.3111G>T (p.Ser1037=) n.3236G>T c.3246G>T (p.Ser1082=) c.3123G>T (p.Ser1041=) c.3120G>T (p.Ser1040=) c.3003G>T (p.Ser1001=) n.3260G>T | |
| 4 | g.110004554A>C | CA357874659 | EGF | c.3223A>C (p.Ser1075Arg) c.2854A>C (p.Ser952Arg) c.3100A>C (p.Ser1034Arg) c.3097A>C (p.Ser1033Arg) n.908A>C n.54A>C n.308A>C c.2980A>C (p.Ser994Arg) c.2492-6648A>C (n.2492-6648A>C) c.3112A>C (p.Ser1038Arg) n.3237A>C c.3247A>C (p.Ser1083Arg) c.3124A>C (p.Ser1042Arg) c.3121A>C (p.Ser1041Arg) c.3004A>C (p.Ser1002Arg) n.3261A>C | |
| 4 | g.110004554A>G | CA357874657 | EGF | c.3223A>G (p.Ser1075Gly) c.2854A>G (p.Ser952Gly) c.3100A>G (p.Ser1034Gly) c.3097A>G (p.Ser1033Gly) n.908A>G n.54A>G n.308A>G c.2980A>G (p.Ser994Gly) c.2492-6648A>G (n.2492-6648A>G) c.3112A>G (p.Ser1038Gly) n.3237A>G c.3247A>G (p.Ser1083Gly) c.3124A>G (p.Ser1042Gly) c.3121A>G (p.Ser1041Gly) c.3004A>G (p.Ser1002Gly) n.3261A>G | |
| 4 | g.110004554A>T | CA357874658 | EGF | c.3223A>T (p.Ser1075Cys) c.2854A>T (p.Ser952Cys) c.3100A>T (p.Ser1034Cys) c.3097A>T (p.Ser1033Cys) n.908A>T n.54A>T n.308A>T c.2980A>T (p.Ser994Cys) c.2492-6648A>T (n.2492-6648A>T) c.3112A>T (p.Ser1038Cys) n.3237A>T c.3247A>T (p.Ser1083Cys) c.3124A>T (p.Ser1042Cys) c.3121A>T (p.Ser1041Cys) c.3004A>T (p.Ser1002Cys) n.3261A>T | |
| 4 | g.110004555G>A | CA357874660 | EGF | c.3224G>A (p.Ser1075Asn) c.2855G>A (p.Ser952Asn) c.3101G>A (p.Ser1034Asn) c.3098G>A (p.Ser1033Asn) n.909G>A n.55G>A n.309G>A c.2981G>A (p.Ser994Asn) c.2492-6647G>A (n.2492-6647G>A) c.3113G>A (p.Ser1038Asn) n.3238G>A c.3248G>A (p.Ser1083Asn) c.3125G>A (p.Ser1042Asn) c.3122G>A (p.Ser1041Asn) c.3005G>A (p.Ser1002Asn) n.3262G>A | gnomAD v4 |
| 4 | g.110004555G>C | CA357874661 | EGF | c.3224G>C (p.Ser1075Thr) c.2855G>C (p.Ser952Thr) c.3101G>C (p.Ser1034Thr) c.3098G>C (p.Ser1033Thr) n.909G>C n.55G>C n.309G>C c.2981G>C (p.Ser994Thr) c.2492-6647G>C (n.2492-6647G>C) c.3113G>C (p.Ser1038Thr) n.3238G>C c.3248G>C (p.Ser1083Thr) c.3125G>C (p.Ser1042Thr) c.3122G>C (p.Ser1041Thr) c.3005G>C (p.Ser1002Thr) n.3262G>C | |
| 4 | g.110004555G>T | CA357874662 | EGF | c.3224G>T (p.Ser1075Ile) c.2855G>T (p.Ser952Ile) c.3101G>T (p.Ser1034Ile) c.3098G>T (p.Ser1033Ile) n.909G>T n.55G>T n.309G>T c.2981G>T (p.Ser994Ile) c.2492-6647G>T (n.2492-6647G>T) c.3113G>T (p.Ser1038Ile) n.3238G>T c.3248G>T (p.Ser1083Ile) c.3125G>T (p.Ser1042Ile) c.3122G>T (p.Ser1041Ile) c.3005G>T (p.Ser1002Ile) n.3262G>T | |
| 4 | g.110004555_110004556insGAGAGATGTGAGGAGTCGCG | CA2671756215 | EGF | c.3224_3225insGAGAGATGTGAGGAGTCGCG (p.Ser1075ArgfsTer11) c.2855_2856insGAGAGATGTGAGGAGTCGCG (p.Ser952ArgfsTer11) c.3101_3102insGAGAGATGTGAGGAGTCGCG (p.Ser1034ArgfsTer11) c.3098_3099insGAGAGATGTGAGGAGTCGCG (p.Ser1033ArgfsTer11) n.909_910insGAGAGATGTGAGGAGTCGCG n.55_56insGAGAGATGTGAGGAGTCGCG n.309_310insGAGAGATGTGAGGAGTCGCG c.2981_2982insGAGAGATGTGAGGAGTCGCG (p.Ser994ArgfsTer11) c.2492-6647_2492-6646insGAGAGATGTGAGGAGTCGCG (n.2492-6647_2492-6646insGAGAGATGTGAGGAGTCGCG) c.3113_3114insGAGAGATGTGAGGAGTCGCG (p.Ser1038ArgfsTer11) n.3238_3239insGAGAGATGTGAGGAGTCGCG c.3248_3249insGAGAGATGTGAGGAGTCGCG (p.Ser1083ArgfsTer11) c.3125_3126insGAGAGATGTGAGGAGTCGCG (p.Ser1042ArgfsTer11) c.3122_3123insGAGAGATGTGAGGAGTCGCG (p.Ser1041ArgfsTer11) c.3005_3006insGAGAGATGTGAGGAGTCGCG (p.Ser1002ArgfsTer11) n.3262_3263insGAGAGATGTGAGGAGTCGCG | gnomAD v4 |
| 4 | g.110004556C>A | CA357874663 | EGF | c.3225C>A (p.Ser1075Arg) c.2856C>A (p.Ser952Arg) c.3102C>A (p.Ser1034Arg) c.3099C>A (p.Ser1033Arg) n.910C>A n.56C>A n.310C>A c.2982C>A (p.Ser994Arg) c.2492-6646C>A (n.2492-6646C>A) c.3114C>A (p.Ser1038Arg) n.3239C>A c.3249C>A (p.Ser1083Arg) c.3126C>A (p.Ser1042Arg) c.3123C>A (p.Ser1041Arg) c.3006C>A (p.Ser1002Arg) n.3263C>A | dbSNP gnomAD v2 |
| 4 | g.110004556C= | CA1484838625 | EGF | c.3225C= (p.Ser1075=) c.2856C= (p.Ser952=) c.3102C= (p.Ser1034=) c.3099C= (p.Ser1033=) n.910C= n.56C= n.310C= c.2982C= (p.Ser994=) c.2492-6646C= (n.2492-6646C=) c.3114C= (p.Ser1038=) n.3239C= c.3249C= (p.Ser1083=) c.3126C= (p.Ser1042=) c.3123C= (p.Ser1041=) c.3006C= (p.Ser1002=) n.3263C= | |
| 4 | g.110004556C>G | CA357874664 | EGF | c.3225C>G (p.Ser1075Arg) c.2856C>G (p.Ser952Arg) c.3102C>G (p.Ser1034Arg) c.3099C>G (p.Ser1033Arg) n.910C>G n.56C>G n.310C>G c.2982C>G (p.Ser994Arg) c.2492-6646C>G (n.2492-6646C>G) c.3114C>G (p.Ser1038Arg) n.3239C>G c.3249C>G (p.Ser1083Arg) c.3126C>G (p.Ser1042Arg) c.3123C>G (p.Ser1041Arg) c.3006C>G (p.Ser1002Arg) n.3263C>G | COSMIC |
| 4 | g.110004556C>T | CA440593662 | EGF | c.3225C>T (p.Ser1075=) c.2856C>T (p.Ser952=) c.3102C>T (p.Ser1034=) c.3099C>T (p.Ser1033=) n.910C>T n.56C>T n.310C>T c.2982C>T (p.Ser994=) c.2492-6646C>T (n.2492-6646C>T) c.3114C>T (p.Ser1038=) n.3239C>T c.3249C>T (p.Ser1083=) c.3126C>T (p.Ser1042=) c.3123C>T (p.Ser1041=) c.3006C>T (p.Ser1002=) n.3263C>T | |
| 4 | g.110004557A>C | CA440593663 | EGF | c.3226A>C (p.Arg1076=) c.2857A>C (p.Arg953=) c.3103A>C (p.Arg1035=) c.3100A>C (p.Arg1034=) n.911A>C n.57A>C n.311A>C c.2983A>C (p.Arg995=) c.2492-6645A>C (n.2492-6645A>C) c.3115A>C (p.Arg1039=) n.3240A>C c.3250A>C (p.Arg1084=) c.3127A>C (p.Arg1043=) c.3124A>C (p.Arg1042=) c.3007A>C (p.Arg1003=) n.3264A>C | |
| 4 | g.110004557A>G | CA357874665 | EGF | c.3226A>G (p.Arg1076Gly) c.2857A>G (p.Arg953Gly) c.3103A>G (p.Arg1035Gly) c.3100A>G (p.Arg1034Gly) n.911A>G n.57A>G n.311A>G c.2983A>G (p.Arg995Gly) c.2492-6645A>G (n.2492-6645A>G) c.3115A>G (p.Arg1039Gly) n.3240A>G c.3250A>G (p.Arg1084Gly) c.3127A>G (p.Arg1043Gly) c.3124A>G (p.Arg1042Gly) c.3007A>G (p.Arg1003Gly) n.3264A>G | |
| 4 | g.110004557A>T | CA357874666 | EGF | c.3226A>T (p.Arg1076Ter) c.2857A>T (p.Arg953Ter) c.3103A>T (p.Arg1035Ter) c.3100A>T (p.Arg1034Ter) n.911A>T n.57A>T n.311A>T c.2983A>T (p.Arg995Ter) c.2492-6645A>T (n.2492-6645A>T) c.3115A>T (p.Arg1039Ter) n.3240A>T c.3250A>T (p.Arg1084Ter) c.3127A>T (p.Arg1043Ter) c.3124A>T (p.Arg1042Ter) c.3007A>T (p.Arg1003Ter) n.3264A>T | |
| 4 | g.110004560_110004561dup | CA2671756216 | EGF | c.3229_3230dup (p.Asp1077GlufsTer3) c.2860_2861dup (p.Asp954GlufsTer3) c.3106_3107dup (p.Asp1036GlufsTer3) c.3103_3104dup (p.Asp1035GlufsTer3) n.914_915dup n.60_61dup n.314_315dup c.2986_2987dup (p.Asp996GlufsTer3) c.2492-6642_2492-6641dup (n.2492-6642_2492-6641dup) c.3118_3119dup (p.Asp1040GlufsTer3) n.3243_3244dup c.3253_3254dup (p.Asp1085GlufsTer3) c.3130_3131dup (p.Asp1044GlufsTer3) c.3127_3128dup (p.Asp1043GlufsTer3) c.3010_3011dup (p.Asp1004GlufsTer3) n.3267_3268dup | gnomAD v4 |
| 4 | g.110004558G>A | CA357874667 | EGF | c.3227G>A (p.Arg1076Lys) c.2858G>A (p.Arg953Lys) c.3104G>A (p.Arg1035Lys) c.3101G>A (p.Arg1034Lys) n.912G>A n.58G>A n.312G>A c.2984G>A (p.Arg995Lys) c.2492-6644G>A (n.2492-6644G>A) c.3116G>A (p.Arg1039Lys) n.3241G>A c.3251G>A (p.Arg1084Lys) c.3128G>A (p.Arg1043Lys) c.3125G>A (p.Arg1042Lys) c.3008G>A (p.Arg1003Lys) n.3265G>A | |
| 4 | g.110004558G>C | CA357874668 | EGF | c.3227G>C (p.Arg1076Thr) c.2858G>C (p.Arg953Thr) c.3104G>C (p.Arg1035Thr) c.3101G>C (p.Arg1034Thr) n.912G>C n.58G>C n.312G>C c.2984G>C (p.Arg995Thr) c.2492-6644G>C (n.2492-6644G>C) c.3116G>C (p.Arg1039Thr) n.3241G>C c.3251G>C (p.Arg1084Thr) c.3128G>C (p.Arg1043Thr) c.3125G>C (p.Arg1042Thr) c.3008G>C (p.Arg1003Thr) n.3265G>C | |
| 4 | g.110004558G>T | CA357874669 | EGF | c.3227G>T (p.Arg1076Ile) c.2858G>T (p.Arg953Ile) c.3104G>T (p.Arg1035Ile) c.3101G>T (p.Arg1034Ile) n.912G>T n.58G>T n.312G>T c.2984G>T (p.Arg995Ile) c.2492-6644G>T (n.2492-6644G>T) c.3116G>T (p.Arg1039Ile) n.3241G>T c.3251G>T (p.Arg1084Ile) c.3128G>T (p.Arg1043Ile) c.3125G>T (p.Arg1042Ile) c.3008G>T (p.Arg1003Ile) n.3265G>T | |
| 4 | g.110004559A>C | CA357874670 | EGF | c.3228A>C (p.Arg1076Ser) c.2859A>C (p.Arg953Ser) c.3105A>C (p.Arg1035Ser) c.3102A>C (p.Arg1034Ser) n.913A>C n.59A>C n.313A>C c.2985A>C (p.Arg995Ser) c.2492-6643A>C (n.2492-6643A>C) c.3117A>C (p.Arg1039Ser) n.3242A>C c.3252A>C (p.Arg1084Ser) c.3129A>C (p.Arg1043Ser) c.3126A>C (p.Arg1042Ser) c.3009A>C (p.Arg1003Ser) n.3266A>C | |
| 4 | g.110004559A>G | CA440593664 | EGF | c.3228A>G (p.Arg1076=) c.2859A>G (p.Arg953=) c.3105A>G (p.Arg1035=) c.3102A>G (p.Arg1034=) n.913A>G n.59A>G n.313A>G c.2985A>G (p.Arg995=) c.2492-6643A>G (n.2492-6643A>G) c.3117A>G (p.Arg1039=) n.3242A>G c.3252A>G (p.Arg1084=) c.3129A>G (p.Arg1043=) c.3126A>G (p.Arg1042=) c.3009A>G (p.Arg1003=) n.3266A>G | |
| 4 | g.110004559A>T | CA357874671 | EGF | c.3228A>T (p.Arg1076Ser) c.2859A>T (p.Arg953Ser) c.3105A>T (p.Arg1035Ser) c.3102A>T (p.Arg1034Ser) n.913A>T n.59A>T n.313A>T c.2985A>T (p.Arg995Ser) c.2492-6643A>T (n.2492-6643A>T) c.3117A>T (p.Arg1039Ser) n.3242A>T c.3252A>T (p.Arg1084Ser) c.3129A>T (p.Arg1043Ser) c.3126A>T (p.Arg1042Ser) c.3009A>T (p.Arg1003Ser) n.3266A>T | |
| 4 | g.110004560G>A | CA357874672 | EGF | c.3229G>A (p.Asp1077Asn) c.2860G>A (p.Asp954Asn) c.3106G>A (p.Asp1036Asn) c.3103G>A (p.Asp1035Asn) n.914G>A n.60G>A n.314G>A c.2986G>A (p.Asp996Asn) c.2492-6642G>A (n.2492-6642G>A) c.3118G>A (p.Asp1040Asn) n.3243G>A c.3253G>A (p.Asp1085Asn) c.3130G>A (p.Asp1044Asn) c.3127G>A (p.Asp1043Asn) c.3010G>A (p.Asp1004Asn) n.3267G>A | |
| 4 | g.110004560G>C | CA357874674 | EGF | c.3229G>C (p.Asp1077His) c.2860G>C (p.Asp954His) c.3106G>C (p.Asp1036His) c.3103G>C (p.Asp1035His) n.914G>C n.60G>C n.314G>C c.2986G>C (p.Asp996His) c.2492-6642G>C (n.2492-6642G>C) c.3118G>C (p.Asp1040His) n.3243G>C c.3253G>C (p.Asp1085His) c.3130G>C (p.Asp1044His) c.3127G>C (p.Asp1043His) c.3010G>C (p.Asp1004His) n.3267G>C | |
| 4 | g.110004560G>T | CA357874673 | EGF | c.3229G>T (p.Asp1077Tyr) c.2860G>T (p.Asp954Tyr) c.3106G>T (p.Asp1036Tyr) c.3103G>T (p.Asp1035Tyr) n.914G>T n.60G>T n.314G>T c.2986G>T (p.Asp996Tyr) c.2492-6642G>T (n.2492-6642G>T) c.3118G>T (p.Asp1040Tyr) n.3243G>T c.3253G>T (p.Asp1085Tyr) c.3130G>T (p.Asp1044Tyr) c.3127G>T (p.Asp1043Tyr) c.3010G>T (p.Asp1004Tyr) n.3267G>T | gnomAD v4 |
| 4 | g.110004561A>C | CA357874675 | EGF | c.3230A>C (p.Asp1077Ala) c.2861A>C (p.Asp954Ala) c.3107A>C (p.Asp1036Ala) c.3104A>C (p.Asp1035Ala) n.915A>C n.61A>C n.315A>C c.2987A>C (p.Asp996Ala) c.2492-6641A>C (n.2492-6641A>C) c.3119A>C (p.Asp1040Ala) n.3244A>C c.3254A>C (p.Asp1085Ala) c.3131A>C (p.Asp1044Ala) c.3128A>C (p.Asp1043Ala) c.3011A>C (p.Asp1004Ala) n.3268A>C | |
| 4 | g.110004561A>G | CA357874676 | EGF | c.3230A>G (p.Asp1077Gly) c.2861A>G (p.Asp954Gly) c.3107A>G (p.Asp1036Gly) c.3104A>G (p.Asp1035Gly) n.915A>G n.61A>G n.315A>G c.2987A>G (p.Asp996Gly) c.2492-6641A>G (n.2492-6641A>G) c.3119A>G (p.Asp1040Gly) n.3244A>G c.3254A>G (p.Asp1085Gly) c.3131A>G (p.Asp1044Gly) c.3128A>G (p.Asp1043Gly) c.3011A>G (p.Asp1004Gly) n.3268A>G | |
| 4 | g.110004561A>T | CA357874677 | EGF | c.3230A>T (p.Asp1077Val) c.2861A>T (p.Asp954Val) c.3107A>T (p.Asp1036Val) c.3104A>T (p.Asp1035Val) n.915A>T n.61A>T n.315A>T c.2987A>T (p.Asp996Val) c.2492-6641A>T (n.2492-6641A>T) c.3119A>T (p.Asp1040Val) n.3244A>T c.3254A>T (p.Asp1085Val) c.3131A>T (p.Asp1044Val) c.3128A>T (p.Asp1043Val) c.3011A>T (p.Asp1004Val) n.3268A>T | |
| 4 | g.110004562T>A | CA357874678 | EGF | c.3231T>A (p.Asp1077Glu) c.2862T>A (p.Asp954Glu) c.3108T>A (p.Asp1036Glu) c.3105T>A (p.Asp1035Glu) n.916T>A n.62T>A n.316T>A c.2988T>A (p.Asp996Glu) c.2492-6640T>A (n.2492-6640T>A) c.3120T>A (p.Asp1040Glu) n.3245T>A c.3255T>A (p.Asp1085Glu) c.3132T>A (p.Asp1044Glu) c.3129T>A (p.Asp1043Glu) c.3012T>A (p.Asp1004Glu) n.3269T>A | |
| 4 | g.110004562T>C | CA440593671 | EGF | c.3231T>C (p.Asp1077=) c.2862T>C (p.Asp954=) c.3108T>C (p.Asp1036=) c.3105T>C (p.Asp1035=) n.916T>C n.62T>C n.316T>C c.2988T>C (p.Asp996=) c.2492-6640T>C (n.2492-6640T>C) c.3120T>C (p.Asp1040=) n.3245T>C c.3255T>C (p.Asp1085=) c.3132T>C (p.Asp1044=) c.3129T>C (p.Asp1043=) c.3012T>C (p.Asp1004=) n.3269T>C | dbSNP |
| 4 | g.110004562T>G | CA357874679 | EGF | c.3231T>G (p.Asp1077Glu) c.2862T>G (p.Asp954Glu) c.3108T>G (p.Asp1036Glu) c.3105T>G (p.Asp1035Glu) n.916T>G n.62T>G n.316T>G c.2988T>G (p.Asp996Glu) c.2492-6640T>G (n.2492-6640T>G) c.3120T>G (p.Asp1040Glu) n.3245T>G c.3255T>G (p.Asp1085Glu) c.3132T>G (p.Asp1044Glu) c.3129T>G (p.Asp1043Glu) c.3012T>G (p.Asp1004Glu) n.3269T>G | |
| 4 | g.110004563G>A | CA357874680 | EGF | c.3232G>A (p.Val1078Met) c.2863G>A (p.Val955Met) c.3109G>A (p.Val1037Met) c.3106G>A (p.Val1036Met) n.917G>A n.63G>A n.317G>A c.2989G>A (p.Val997Met) c.2492-6639G>A (n.2492-6639G>A) c.3121G>A (p.Val1041Met) n.3246G>A c.3256G>A (p.Val1086Met) c.3133G>A (p.Val1045Met) c.3130G>A (p.Val1044Met) c.3013G>A (p.Val1005Met) n.3270G>A | gnomAD v4 |
| 4 | g.110004563G>C | CA357874681 | EGF | c.3232G>C (p.Val1078Leu) c.2863G>C (p.Val955Leu) c.3109G>C (p.Val1037Leu) c.3106G>C (p.Val1036Leu) n.917G>C n.63G>C n.317G>C c.2989G>C (p.Val997Leu) c.2492-6639G>C (n.2492-6639G>C) c.3121G>C (p.Val1041Leu) n.3246G>C c.3256G>C (p.Val1086Leu) c.3133G>C (p.Val1045Leu) c.3130G>C (p.Val1044Leu) c.3013G>C (p.Val1005Leu) n.3270G>C | gnomAD v4 |