| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.110004540C>A | CA357874622 | EGF | c.3209C>A (p.Pro1070His) c.2840C>A (p.Pro947His) c.3086C>A (p.Pro1029His) c.3083C>A (p.Pro1028His) n.894C>A n.40C>A n.294C>A c.2966C>A (p.Pro989His) c.2492-6662C>A (n.2492-6662C>A) c.3098C>A (p.Pro1033His) n.3223C>A c.3233C>A (p.Pro1078His) c.3110C>A (p.Pro1037His) c.3107C>A (p.Pro1036His) c.2990C>A (p.Pro997His) n.3247C>A | COSMIC |
| 4 | g.110004540C= | CA1484838605 | EGF | c.3209C= (p.Pro1070=) c.2840C= (p.Pro947=) c.3086C= (p.Pro1029=) c.3083C= (p.Pro1028=) n.894C= n.40C= n.294C= c.2966C= (p.Pro989=) c.2492-6662C= (n.2492-6662C=) c.3098C= (p.Pro1033=) n.3223C= c.3233C= (p.Pro1078=) c.3110C= (p.Pro1037=) c.3107C= (p.Pro1036=) c.2990C= (p.Pro997=) n.3247C= | |
| 4 | g.110004540C>G | CA357874624 | EGF | c.3209C>G (p.Pro1070Arg) c.2840C>G (p.Pro947Arg) c.3086C>G (p.Pro1029Arg) c.3083C>G (p.Pro1028Arg) n.894C>G n.40C>G n.294C>G c.2966C>G (p.Pro989Arg) c.2492-6662C>G (n.2492-6662C>G) c.3098C>G (p.Pro1033Arg) n.3223C>G c.3233C>G (p.Pro1078Arg) c.3110C>G (p.Pro1037Arg) c.3107C>G (p.Pro1036Arg) c.2990C>G (p.Pro997Arg) n.3247C>G | gnomAD v4 |
| 4 | g.110004540C>T | CA126727 | EGF | c.3209C>T (p.Pro1070Leu) c.2840C>T (p.Pro947Leu) c.3086C>T (p.Pro1029Leu) c.3083C>T (p.Pro1028Leu) n.894C>T n.40C>T n.294C>T c.2966C>T (p.Pro989Leu) c.2492-6662C>T (n.2492-6662C>T) c.3098C>T (p.Pro1033Leu) n.3223C>T c.3233C>T (p.Pro1078Leu) c.3110C>T (p.Pro1037Leu) c.3107C>T (p.Pro1036Leu) c.2990C>T (p.Pro997Leu) n.3247C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110004541T>A | CA3044214 | EGF | c.3210T>A (p.Pro1070=) c.2841T>A (p.Pro947=) c.3087T>A (p.Pro1029=) c.3084T>A (p.Pro1028=) n.895T>A n.41T>A n.295T>A c.2967T>A (p.Pro989=) c.2492-6661T>A (n.2492-6661T>A) c.3099T>A (p.Pro1033=) n.3224T>A c.3234T>A (p.Pro1078=) c.3111T>A (p.Pro1037=) c.3108T>A (p.Pro1036=) c.2991T>A (p.Pro997=) n.3248T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.110004541T>C | CA440593646 | EGF | c.3210T>C (p.Pro1070=) c.2841T>C (p.Pro947=) c.3087T>C (p.Pro1029=) c.3084T>C (p.Pro1028=) n.895T>C n.41T>C n.295T>C c.2967T>C (p.Pro989=) c.2492-6661T>C (n.2492-6661T>C) c.3099T>C (p.Pro1033=) n.3224T>C c.3234T>C (p.Pro1078=) c.3111T>C (p.Pro1037=) c.3108T>C (p.Pro1036=) c.2991T>C (p.Pro997=) n.3248T>C | |
| 4 | g.110004541T>G | CA440593645 | EGF | c.3210T>G (p.Pro1070=) c.2841T>G (p.Pro947=) c.3087T>G (p.Pro1029=) c.3084T>G (p.Pro1028=) n.895T>G n.41T>G n.295T>G c.2967T>G (p.Pro989=) c.2492-6661T>G (n.2492-6661T>G) c.3099T>G (p.Pro1033=) n.3224T>G c.3234T>G (p.Pro1078=) c.3111T>G (p.Pro1037=) c.3108T>G (p.Pro1036=) c.2991T>G (p.Pro997=) n.3248T>G | |
| 4 | g.110004541T= | CA1484838609 | EGF | c.3210T= (p.Pro1070=) c.2841T= (p.Pro947=) c.3087T= (p.Pro1029=) c.3084T= (p.Pro1028=) n.895T= n.41T= n.295T= c.2967T= (p.Pro989=) c.2492-6661T= (n.2492-6661T=) c.3099T= (p.Pro1033=) n.3224T= c.3234T= (p.Pro1078=) c.3111T= (p.Pro1037=) c.3108T= (p.Pro1036=) c.2991T= (p.Pro997=) n.3248T= | |
| 4 | g.110004542T>A | CA357874626 | EGF | c.3211T>A (p.Tyr1071Asn) c.2842T>A (p.Tyr948Asn) c.3088T>A (p.Tyr1030Asn) c.3085T>A (p.Tyr1029Asn) n.896T>A n.42T>A n.296T>A c.2968T>A (p.Tyr990Asn) c.2492-6660T>A (n.2492-6660T>A) c.3100T>A (p.Tyr1034Asn) n.3225T>A c.3235T>A (p.Tyr1079Asn) c.3112T>A (p.Tyr1038Asn) c.3109T>A (p.Tyr1037Asn) c.2992T>A (p.Tyr998Asn) n.3249T>A | |
| 4 | g.110004542T>C | CA103713170 | EGF | c.3211T>C (p.Tyr1071His) c.2842T>C (p.Tyr948His) c.3088T>C (p.Tyr1030His) c.3085T>C (p.Tyr1029His) n.896T>C n.42T>C n.296T>C c.2968T>C (p.Tyr990His) c.2492-6660T>C (n.2492-6660T>C) c.3100T>C (p.Tyr1034His) n.3225T>C c.3235T>C (p.Tyr1079His) c.3112T>C (p.Tyr1038His) c.3109T>C (p.Tyr1037His) c.2992T>C (p.Tyr998His) n.3249T>C | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.110004542T>G | CA357874628 | EGF | c.3211T>G (p.Tyr1071Asp) c.2842T>G (p.Tyr948Asp) c.3088T>G (p.Tyr1030Asp) c.3085T>G (p.Tyr1029Asp) n.896T>G n.42T>G n.296T>G c.2968T>G (p.Tyr990Asp) c.2492-6660T>G (n.2492-6660T>G) c.3100T>G (p.Tyr1034Asp) n.3225T>G c.3235T>G (p.Tyr1079Asp) c.3112T>G (p.Tyr1038Asp) c.3109T>G (p.Tyr1037Asp) c.2992T>G (p.Tyr998Asp) n.3249T>G | |
| 4 | g.110004542T= | CA1484838611 | EGF | c.3211T= (p.Tyr1071=) c.2842T= (p.Tyr948=) c.3088T= (p.Tyr1030=) c.3085T= (p.Tyr1029=) n.896T= n.42T= n.296T= c.2968T= (p.Tyr990=) c.2492-6660T= (n.2492-6660T=) c.3100T= (p.Tyr1034=) n.3225T= c.3235T= (p.Tyr1079=) c.3112T= (p.Tyr1038=) c.3109T= (p.Tyr1037=) c.2992T= (p.Tyr998=) n.3249T= | |
| 4 | g.110004543A= | CA1484838614 | EGF | c.3212A= (p.Tyr1071=) c.2843A= (p.Tyr948=) c.3089A= (p.Tyr1030=) c.3086A= (p.Tyr1029=) n.897A= n.43A= n.297A= c.2969A= (p.Tyr990=) c.2492-6659A= (n.2492-6659A=) c.3101A= (p.Tyr1034=) n.3226A= c.3236A= (p.Tyr1079=) c.3113A= (p.Tyr1038=) c.3110A= (p.Tyr1037=) c.2993A= (p.Tyr998=) n.3250A= | |
| 4 | g.110004543A>C | CA357874631 | EGF | c.3212A>C (p.Tyr1071Ser) c.2843A>C (p.Tyr948Ser) c.3089A>C (p.Tyr1030Ser) c.3086A>C (p.Tyr1029Ser) n.897A>C n.43A>C n.297A>C c.2969A>C (p.Tyr990Ser) c.2492-6659A>C (n.2492-6659A>C) c.3101A>C (p.Tyr1034Ser) n.3226A>C c.3236A>C (p.Tyr1079Ser) c.3113A>C (p.Tyr1038Ser) c.3110A>C (p.Tyr1037Ser) c.2993A>C (p.Tyr998Ser) n.3250A>C | |
| 4 | g.110004543A>G | CA357874632 | EGF | c.3212A>G (p.Tyr1071Cys) c.2843A>G (p.Tyr948Cys) c.3089A>G (p.Tyr1030Cys) c.3086A>G (p.Tyr1029Cys) n.897A>G n.43A>G n.297A>G c.2969A>G (p.Tyr990Cys) c.2492-6659A>G (n.2492-6659A>G) c.3101A>G (p.Tyr1034Cys) n.3226A>G c.3236A>G (p.Tyr1079Cys) c.3113A>G (p.Tyr1038Cys) c.3110A>G (p.Tyr1037Cys) c.2993A>G (p.Tyr998Cys) n.3250A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110004543A>T | CA357874633 | EGF | c.3212A>T (p.Tyr1071Phe) c.2843A>T (p.Tyr948Phe) c.3089A>T (p.Tyr1030Phe) c.3086A>T (p.Tyr1029Phe) n.897A>T n.43A>T n.297A>T c.2969A>T (p.Tyr990Phe) c.2492-6659A>T (n.2492-6659A>T) c.3101A>T (p.Tyr1034Phe) n.3226A>T c.3236A>T (p.Tyr1079Phe) c.3113A>T (p.Tyr1038Phe) c.3110A>T (p.Tyr1037Phe) c.2993A>T (p.Tyr998Phe) n.3250A>T | |
| 4 | g.110004544T>A | CA357874634 | EGF | c.3213T>A (p.Tyr1071Ter) c.2844T>A (p.Tyr948Ter) c.3090T>A (p.Tyr1030Ter) c.3087T>A (p.Tyr1029Ter) n.898T>A n.44T>A n.298T>A c.2970T>A (p.Tyr990Ter) c.2492-6658T>A (n.2492-6658T>A) c.3102T>A (p.Tyr1034Ter) n.3227T>A c.3237T>A (p.Tyr1079Ter) c.3114T>A (p.Tyr1038Ter) c.3111T>A (p.Tyr1037Ter) c.2994T>A (p.Tyr998Ter) n.3251T>A | |
| 4 | g.110004544T>C | CA440593650 | EGF | c.3213T>C (p.Tyr1071=) c.2844T>C (p.Tyr948=) c.3090T>C (p.Tyr1030=) c.3087T>C (p.Tyr1029=) n.898T>C n.44T>C n.298T>C c.2970T>C (p.Tyr990=) c.2492-6658T>C (n.2492-6658T>C) c.3102T>C (p.Tyr1034=) n.3227T>C c.3237T>C (p.Tyr1079=) c.3114T>C (p.Tyr1038=) c.3111T>C (p.Tyr1037=) c.2994T>C (p.Tyr998=) n.3251T>C | gnomAD v4 |
| 4 | g.110004544T>G | CA357874635 | EGF | c.3213T>G (p.Tyr1071Ter) c.2844T>G (p.Tyr948Ter) c.3090T>G (p.Tyr1030Ter) c.3087T>G (p.Tyr1029Ter) n.898T>G n.44T>G n.298T>G c.2970T>G (p.Tyr990Ter) c.2492-6658T>G (n.2492-6658T>G) c.3102T>G (p.Tyr1034Ter) n.3227T>G c.3237T>G (p.Tyr1079Ter) c.3114T>G (p.Tyr1038Ter) c.3111T>G (p.Tyr1037Ter) c.2994T>G (p.Tyr998Ter) n.3251T>G | |
| 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.110004545G>A | CA357874636 | EGF | c.3214G>A (p.Glu1072Lys) c.2845G>A (p.Glu949Lys) c.3091G>A (p.Glu1031Lys) c.3088G>A (p.Glu1030Lys) n.899G>A n.45G>A n.299G>A c.2971G>A (p.Glu991Lys) c.2492-6657G>A (n.2492-6657G>A) c.3103G>A (p.Glu1035Lys) n.3228G>A c.3238G>A (p.Glu1080Lys) c.3115G>A (p.Glu1039Lys) c.3112G>A (p.Glu1038Lys) c.2995G>A (p.Glu999Lys) n.3252G>A | gnomAD v4 |
| 4 | g.110004545G>C | CA357874637 | EGF | c.3214G>C (p.Glu1072Gln) c.2845G>C (p.Glu949Gln) c.3091G>C (p.Glu1031Gln) c.3088G>C (p.Glu1030Gln) n.899G>C n.45G>C n.299G>C c.2971G>C (p.Glu991Gln) c.2492-6657G>C (n.2492-6657G>C) c.3103G>C (p.Glu1035Gln) n.3228G>C c.3238G>C (p.Glu1080Gln) c.3115G>C (p.Glu1039Gln) c.3112G>C (p.Glu1038Gln) c.2995G>C (p.Glu999Gln) n.3252G>C | |
| 4 | g.110004545G>T | CA357874638 | EGF | c.3214G>T (p.Glu1072Ter) c.2845G>T (p.Glu949Ter) c.3091G>T (p.Glu1031Ter) c.3088G>T (p.Glu1030Ter) n.899G>T n.45G>T n.299G>T c.2971G>T (p.Glu991Ter) c.2492-6657G>T (n.2492-6657G>T) c.3103G>T (p.Glu1035Ter) n.3228G>T c.3238G>T (p.Glu1080Ter) c.3115G>T (p.Glu1039Ter) c.3112G>T (p.Glu1038Ter) c.2995G>T (p.Glu999Ter) n.3252G>T | |
| 4 | g.110004546A>C | CA357874640 | EGF | c.3215A>C (p.Glu1072Ala) c.2846A>C (p.Glu949Ala) c.3092A>C (p.Glu1031Ala) c.3089A>C (p.Glu1030Ala) n.900A>C n.46A>C n.300A>C c.2972A>C (p.Glu991Ala) c.2492-6656A>C (n.2492-6656A>C) c.3104A>C (p.Glu1035Ala) n.3229A>C c.3239A>C (p.Glu1080Ala) c.3116A>C (p.Glu1039Ala) c.3113A>C (p.Glu1038Ala) c.2996A>C (p.Glu999Ala) n.3253A>C | |
| 4 | g.110004546A>G | CA357874641 | EGF | c.3215A>G (p.Glu1072Gly) c.2846A>G (p.Glu949Gly) c.3092A>G (p.Glu1031Gly) c.3089A>G (p.Glu1030Gly) n.900A>G n.46A>G n.300A>G c.2972A>G (p.Glu991Gly) c.2492-6656A>G (n.2492-6656A>G) c.3104A>G (p.Glu1035Gly) n.3229A>G c.3239A>G (p.Glu1080Gly) c.3116A>G (p.Glu1039Gly) c.3113A>G (p.Glu1038Gly) c.2996A>G (p.Glu999Gly) n.3253A>G | |
| 4 | g.110004546A>T | CA357874639 | EGF | c.3215A>T (p.Glu1072Val) c.2846A>T (p.Glu949Val) c.3092A>T (p.Glu1031Val) c.3089A>T (p.Glu1030Val) n.900A>T n.46A>T n.300A>T c.2972A>T (p.Glu991Val) c.2492-6656A>T (n.2492-6656A>T) c.3104A>T (p.Glu1035Val) n.3229A>T c.3239A>T (p.Glu1080Val) c.3116A>T (p.Glu1039Val) c.3113A>T (p.Glu1038Val) c.2996A>T (p.Glu999Val) n.3253A>T | |
| 4 | g.110004547G>A | CA3044215 | EGF | c.3216G>A (p.Glu1072=) c.2847G>A (p.Glu949=) c.3093G>A (p.Glu1031=) c.3090G>A (p.Glu1030=) n.901G>A n.47G>A n.301G>A c.2973G>A (p.Glu991=) c.2492-6655G>A (n.2492-6655G>A) c.3105G>A (p.Glu1035=) n.3230G>A c.3240G>A (p.Glu1080=) c.3117G>A (p.Glu1039=) c.3114G>A (p.Glu1038=) c.2997G>A (p.Glu999=) n.3254G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110004547G>C | CA357874642 | EGF | c.3216G>C (p.Glu1072Asp) c.2847G>C (p.Glu949Asp) c.3093G>C (p.Glu1031Asp) c.3090G>C (p.Glu1030Asp) n.901G>C n.47G>C n.301G>C c.2973G>C (p.Glu991Asp) c.2492-6655G>C (n.2492-6655G>C) c.3105G>C (p.Glu1035Asp) n.3230G>C c.3240G>C (p.Glu1080Asp) c.3117G>C (p.Glu1039Asp) c.3114G>C (p.Glu1038Asp) c.2997G>C (p.Glu999Asp) n.3254G>C | |
| 4 | g.110004547G= | CA1484838617 | EGF | c.3216G= (p.Glu1072=) c.2847G= (p.Glu949=) c.3093G= (p.Glu1031=) c.3090G= (p.Glu1030=) n.901G= n.47G= n.301G= c.2973G= (p.Glu991=) c.2492-6655G= (n.2492-6655G=) c.3105G= (p.Glu1035=) n.3230G= c.3240G= (p.Glu1080=) c.3117G= (p.Glu1039=) c.3114G= (p.Glu1038=) c.2997G= (p.Glu999=) n.3254G= | |
| 4 | g.110004547G>T | CA357874643 | EGF | c.3216G>T (p.Glu1072Asp) c.2847G>T (p.Glu949Asp) c.3093G>T (p.Glu1031Asp) c.3090G>T (p.Glu1030Asp) n.901G>T n.47G>T n.301G>T c.2973G>T (p.Glu991Asp) c.2492-6655G>T (n.2492-6655G>T) c.3105G>T (p.Glu1035Asp) n.3230G>T c.3240G>T (p.Glu1080Asp) c.3117G>T (p.Glu1039Asp) c.3114G>T (p.Glu1038Asp) c.2997G>T (p.Glu999Asp) n.3254G>T | |
| 4 | g.110004548G>A | CA357874644 | EGF | c.3217G>A (p.Glu1073Lys) c.2848G>A (p.Glu950Lys) c.3094G>A (p.Glu1032Lys) c.3091G>A (p.Glu1031Lys) n.902G>A n.48G>A n.302G>A c.2974G>A (p.Glu992Lys) c.2492-6654G>A (n.2492-6654G>A) c.3106G>A (p.Glu1036Lys) n.3231G>A c.3241G>A (p.Glu1081Lys) c.3118G>A (p.Glu1040Lys) c.3115G>A (p.Glu1039Lys) c.2998G>A (p.Glu1000Lys) n.3255G>A | |
| 4 | g.110004548G>C | CA357874645 | EGF | c.3217G>C (p.Glu1073Gln) c.2848G>C (p.Glu950Gln) c.3094G>C (p.Glu1032Gln) c.3091G>C (p.Glu1031Gln) n.902G>C n.48G>C n.302G>C c.2974G>C (p.Glu992Gln) c.2492-6654G>C (n.2492-6654G>C) c.3106G>C (p.Glu1036Gln) n.3231G>C c.3241G>C (p.Glu1081Gln) c.3118G>C (p.Glu1040Gln) c.3115G>C (p.Glu1039Gln) c.2998G>C (p.Glu1000Gln) n.3255G>C | |
| 4 | g.110004548G>T | CA357874646 | EGF | c.3217G>T (p.Glu1073Ter) c.2848G>T (p.Glu950Ter) c.3094G>T (p.Glu1032Ter) c.3091G>T (p.Glu1031Ter) n.902G>T n.48G>T n.302G>T c.2974G>T (p.Glu992Ter) c.2492-6654G>T (n.2492-6654G>T) c.3106G>T (p.Glu1036Ter) n.3231G>T c.3241G>T (p.Glu1081Ter) c.3118G>T (p.Glu1040Ter) c.3115G>T (p.Glu1039Ter) c.2998G>T (p.Glu1000Ter) n.3255G>T | |
| 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 |