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 |
|---|---|---|---|---|---|
| 5 | g.112838677G>A | CA16028084 | APC | c.2748G>A (n.2748G>A) c.3137G>A (p.Ser1046Asn) c.*3089G>A (n.*3089G>A) c.3029G>A (p.Ser1010Asn) c.3083G>A (p.Ser1028Asn) c.1436G>A c.*2405G>A (n.*2405G>A) c.230+9705G>A c.3113G>A (p.Ser1038Asn) c.3008G>A (p.Ser1003Asn) c.2999G>A (p.Ser1000Asn) c.2960G>A (p.Ser987Asn) c.2906G>A (p.Ser969Asn) c.2810G>A (p.Ser937Asn) c.2780G>A (p.Ser927Asn) c.2705G>A (p.Ser902Asn) c.2603G>A (p.Ser868Asn) c.2234G>A (p.Ser745Asn) | ClinVar dbSNP |
| 5 | g.112838677G>C | CA16028085 | APC | c.2748G>C (n.2748G>C) c.3137G>C (p.Ser1046Thr) c.*3089G>C (n.*3089G>C) c.3029G>C (p.Ser1010Thr) c.3083G>C (p.Ser1028Thr) c.1436G>C c.*2405G>C (n.*2405G>C) c.230+9705G>C c.3113G>C (p.Ser1038Thr) c.3008G>C (p.Ser1003Thr) c.2999G>C (p.Ser1000Thr) c.2960G>C (p.Ser987Thr) c.2906G>C (p.Ser969Thr) c.2810G>C (p.Ser937Thr) c.2780G>C (p.Ser927Thr) c.2705G>C (p.Ser902Thr) c.2603G>C (p.Ser868Thr) c.2234G>C (p.Ser745Thr) | ClinVar dbSNP |
| 5 | g.112838677G= | CA1573485895 | APC | c.2748G= (n.2748G=) c.3137G= (p.Ser1046=) c.*3089G= (n.*3089G=) c.3029G= (p.Ser1010=) c.3083G= (p.Ser1028=) c.1436G= c.*2405G= (n.*2405G=) c.230+9705G= c.3113G= (p.Ser1038=) c.3008G= (p.Ser1003=) c.2999G= (p.Ser1000=) c.2960G= (p.Ser987=) c.2906G= (p.Ser969=) c.2810G= (p.Ser937=) c.2780G= (p.Ser927=) c.2705G= (p.Ser902=) c.2603G= (p.Ser868=) c.2234G= (p.Ser745=) | |
| 5 | g.112838677G>T | CA16028086 | APC | c.2748G>T (n.2748G>T) c.3137G>T (p.Ser1046Ile) c.*3089G>T (n.*3089G>T) c.3029G>T (p.Ser1010Ile) c.3083G>T (p.Ser1028Ile) c.1436G>T c.*2405G>T (n.*2405G>T) c.230+9705G>T c.3113G>T (p.Ser1038Ile) c.3008G>T (p.Ser1003Ile) c.2999G>T (p.Ser1000Ile) c.2960G>T (p.Ser987Ile) c.2906G>T (p.Ser969Ile) c.2810G>T (p.Ser937Ile) c.2780G>T (p.Ser927Ile) c.2705G>T (p.Ser902Ile) c.2603G>T (p.Ser868Ile) c.2234G>T (p.Ser745Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112838678T>A | CA10578350 | APC | c.2749T>A (n.2749T>A) c.3138T>A (p.Ser1046Arg) c.*3090T>A (n.*3090T>A) c.3030T>A (p.Ser1010Arg) c.3084T>A (p.Ser1028Arg) c.1437T>A c.*2406T>A (n.*2406T>A) c.230+9706T>A c.3114T>A (p.Ser1038Arg) c.3009T>A (p.Ser1003Arg) c.3000T>A (p.Ser1000Arg) c.2961T>A (p.Ser987Arg) c.2907T>A (p.Ser969Arg) c.2811T>A (p.Ser937Arg) c.2781T>A (p.Ser927Arg) c.2706T>A (p.Ser902Arg) c.2604T>A (p.Ser868Arg) c.2235T>A (p.Ser745Arg) | ClinVar dbSNP COSMIC |
| 5 | g.112838678T>C | CA445963166 | APC | c.2749T>C (n.2749T>C) c.3138T>C (p.Ser1046=) c.*3090T>C (n.*3090T>C) c.3030T>C (p.Ser1010=) c.3084T>C (p.Ser1028=) c.1437T>C c.*2406T>C (n.*2406T>C) c.230+9706T>C c.3114T>C (p.Ser1038=) c.3009T>C (p.Ser1003=) c.3000T>C (p.Ser1000=) c.2961T>C (p.Ser987=) c.2907T>C (p.Ser969=) c.2811T>C (p.Ser937=) c.2781T>C (p.Ser927=) c.2706T>C (p.Ser902=) c.2604T>C (p.Ser868=) c.2235T>C (p.Ser745=) | ClinVar dbSNP |
| 5 | g.112838678T>G | CA16028087 | APC | c.2749T>G (n.2749T>G) c.3138T>G (p.Ser1046Arg) c.*3090T>G (n.*3090T>G) c.3030T>G (p.Ser1010Arg) c.3084T>G (p.Ser1028Arg) c.1437T>G c.*2406T>G (n.*2406T>G) c.230+9706T>G c.3114T>G (p.Ser1038Arg) c.3009T>G (p.Ser1003Arg) c.3000T>G (p.Ser1000Arg) c.2961T>G (p.Ser987Arg) c.2907T>G (p.Ser969Arg) c.2811T>G (p.Ser937Arg) c.2781T>G (p.Ser927Arg) c.2706T>G (p.Ser902Arg) c.2604T>G (p.Ser868Arg) c.2235T>G (p.Ser745Arg) | ClinVar dbSNP |
| 5 | g.112838678T= | CA1573485909 | APC | c.2749T= (n.2749T=) c.3138T= (p.Ser1046=) c.*3090T= (n.*3090T=) c.3030T= (p.Ser1010=) c.3084T= (p.Ser1028=) c.1437T= c.*2406T= (n.*2406T=) c.230+9706T= c.3114T= (p.Ser1038=) c.3009T= (p.Ser1003=) c.3000T= (p.Ser1000=) c.2961T= (p.Ser987=) c.2907T= (p.Ser969=) c.2811T= (p.Ser937=) c.2781T= (p.Ser927=) c.2706T= (p.Ser902=) c.2604T= (p.Ser868=) c.2235T= (p.Ser745=) | |
| 5 | g.112838679C>A | CA16028088 | APC | c.2750C>A (n.2750C>A) c.3139C>A (p.Leu1047Ile) c.*3091C>A (n.*3091C>A) c.3031C>A (p.Leu1011Ile) c.3085C>A (p.Leu1029Ile) c.1438C>A c.*2407C>A (n.*2407C>A) c.230+9707C>A c.3115C>A (p.Leu1039Ile) c.3010C>A (p.Leu1004Ile) c.3001C>A (p.Leu1001Ile) c.2962C>A (p.Leu988Ile) c.2908C>A (p.Leu970Ile) c.2812C>A (p.Leu938Ile) c.2782C>A (p.Leu928Ile) c.2707C>A (p.Leu903Ile) c.2605C>A (p.Leu869Ile) c.2236C>A (p.Leu746Ile) | ClinVar dbSNP |
| 5 | g.112838679C>G | CA16028089 | APC | c.2750C>G (n.2750C>G) c.3139C>G (p.Leu1047Val) c.*3091C>G (n.*3091C>G) c.3031C>G (p.Leu1011Val) c.3085C>G (p.Leu1029Val) c.1438C>G c.*2407C>G (n.*2407C>G) c.230+9707C>G c.3115C>G (p.Leu1039Val) c.3010C>G (p.Leu1004Val) c.3001C>G (p.Leu1001Val) c.2962C>G (p.Leu988Val) c.2908C>G (p.Leu970Val) c.2812C>G (p.Leu938Val) c.2782C>G (p.Leu928Val) c.2707C>G (p.Leu903Val) c.2605C>G (p.Leu869Val) c.2236C>G (p.Leu746Val) | dbSNP gnomAD v4 |
| 5 | g.112838679C>T | CA16028090 | APC | c.2750C>T (n.2750C>T) c.3139C>T (p.Leu1047Phe) c.*3091C>T (n.*3091C>T) c.3031C>T (p.Leu1011Phe) c.3085C>T (p.Leu1029Phe) c.1438C>T c.*2407C>T (n.*2407C>T) c.230+9707C>T c.3115C>T (p.Leu1039Phe) c.3010C>T (p.Leu1004Phe) c.3001C>T (p.Leu1001Phe) c.2962C>T (p.Leu988Phe) c.2908C>T (p.Leu970Phe) c.2812C>T (p.Leu938Phe) c.2782C>T (p.Leu928Phe) c.2707C>T (p.Leu903Phe) c.2605C>T (p.Leu869Phe) c.2236C>T (p.Leu746Phe) | dbSNP |
| 5 | g.112838680T>A | CA16028091 | APC | c.2751T>A (n.2751T>A) c.3140T>A (p.Leu1047His) c.*3092T>A (n.*3092T>A) c.3032T>A (p.Leu1011His) c.3086T>A (p.Leu1029His) c.1439T>A c.*2408T>A (n.*2408T>A) c.230+9708T>A c.3116T>A (p.Leu1039His) c.3011T>A (p.Leu1004His) c.3002T>A (p.Leu1001His) c.2963T>A (p.Leu988His) c.2909T>A (p.Leu970His) c.2813T>A (p.Leu938His) c.2783T>A (p.Leu928His) c.2708T>A (p.Leu903His) c.2606T>A (p.Leu869His) c.2237T>A (p.Leu746His) | dbSNP |
| 5 | g.112838680T>C | CA16028092 | APC | c.2751T>C (n.2751T>C) c.3140T>C (p.Leu1047Pro) c.*3092T>C (n.*3092T>C) c.3032T>C (p.Leu1011Pro) c.3086T>C (p.Leu1029Pro) c.1439T>C c.*2408T>C (n.*2408T>C) c.230+9708T>C c.3116T>C (p.Leu1039Pro) c.3011T>C (p.Leu1004Pro) c.3002T>C (p.Leu1001Pro) c.2963T>C (p.Leu988Pro) c.2909T>C (p.Leu970Pro) c.2813T>C (p.Leu938Pro) c.2783T>C (p.Leu928Pro) c.2708T>C (p.Leu903Pro) c.2606T>C (p.Leu869Pro) c.2237T>C (p.Leu746Pro) | |
| 5 | g.112838680T>G | CA16028093 | APC | c.2751T>G (n.2751T>G) c.3140T>G (p.Leu1047Arg) c.*3092T>G (n.*3092T>G) c.3032T>G (p.Leu1011Arg) c.3086T>G (p.Leu1029Arg) c.1439T>G c.*2408T>G (n.*2408T>G) c.230+9708T>G c.3116T>G (p.Leu1039Arg) c.3011T>G (p.Leu1004Arg) c.3002T>G (p.Leu1001Arg) c.2963T>G (p.Leu988Arg) c.2909T>G (p.Leu970Arg) c.2813T>G (p.Leu938Arg) c.2783T>G (p.Leu928Arg) c.2708T>G (p.Leu903Arg) c.2606T>G (p.Leu869Arg) c.2237T>G (p.Leu746Arg) | ClinVar dbSNP |
| 5 | g.112838680_112838681del | CA2582341484 | APC | c.2751_2752del (n.2751_2752del) c.3140_3141del (p.Leu1047GlnfsTer5) c.*3092_*3093del (n.*3092_*3093del) c.3032_3033del (p.Leu1011GlnfsTer5) c.3086_3087del (p.Leu1029GlnfsTer5) c.1439_1440del c.*2408_*2409del (n.*2408_*2409del) c.230+9708_230+9709del c.3116_3117del (p.Leu1039GlnfsTer5) c.3011_3012del (p.Leu1004GlnfsTer5) c.3002_3003del (p.Leu1001GlnfsTer5) c.2963_2964del (p.Leu988GlnfsTer5) c.2909_2910del (p.Leu970GlnfsTer5) c.2813_2814del (p.Leu938GlnfsTer5) c.2783_2784del (p.Leu928GlnfsTer5) c.2708_2709del (p.Leu903GlnfsTer5) c.2606_2607del (p.Leu869GlnfsTer5) c.2237_2238del (p.Leu746GlnfsTer5) | ClinVar |
| 5 | g.112838681T>A | CA445963167 | APC | c.2752T>A (n.2752T>A) c.3141T>A (p.Leu1047=) c.*3093T>A (n.*3093T>A) c.3033T>A (p.Leu1011=) c.3087T>A (p.Leu1029=) c.1440T>A c.*2409T>A (n.*2409T>A) c.230+9709T>A c.3117T>A (p.Leu1039=) c.3012T>A (p.Leu1004=) c.3003T>A (p.Leu1001=) c.2964T>A (p.Leu988=) c.2910T>A (p.Leu970=) c.2814T>A (p.Leu938=) c.2784T>A (p.Leu928=) c.2709T>A (p.Leu903=) c.2607T>A (p.Leu869=) c.2238T>A (p.Leu746=) | |
| 5 | g.112838681T>C | CA445963169 | APC | c.2752T>C (n.2752T>C) c.3141T>C (p.Leu1047=) c.*3093T>C (n.*3093T>C) c.3033T>C (p.Leu1011=) c.3087T>C (p.Leu1029=) c.1440T>C c.*2409T>C (n.*2409T>C) c.230+9709T>C c.3117T>C (p.Leu1039=) c.3012T>C (p.Leu1004=) c.3003T>C (p.Leu1001=) c.2964T>C (p.Leu988=) c.2910T>C (p.Leu970=) c.2814T>C (p.Leu938=) c.2784T>C (p.Leu928=) c.2709T>C (p.Leu903=) c.2607T>C (p.Leu869=) c.2238T>C (p.Leu746=) | ClinVar |
| 5 | g.112838681T>G | CA445963168 | APC | c.2752T>G (n.2752T>G) c.3141T>G (p.Leu1047=) c.*3093T>G (n.*3093T>G) c.3033T>G (p.Leu1011=) c.3087T>G (p.Leu1029=) c.1440T>G c.*2409T>G (n.*2409T>G) c.230+9709T>G c.3117T>G (p.Leu1039=) c.3012T>G (p.Leu1004=) c.3003T>G (p.Leu1001=) c.2964T>G (p.Leu988=) c.2910T>G (p.Leu970=) c.2814T>G (p.Leu938=) c.2784T>G (p.Leu928=) c.2709T>G (p.Leu903=) c.2607T>G (p.Leu869=) c.2238T>G (p.Leu746=) | COSMIC |
| 5 | g.112838681T= | CA1573485925 | APC | c.2752T= (n.2752T=) c.3141T= (p.Leu1047=) c.*3093T= (n.*3093T=) c.3033T= (p.Leu1011=) c.3087T= (p.Leu1029=) c.1440T= c.*2409T= (n.*2409T=) c.230+9709T= c.3117T= (p.Leu1039=) c.3012T= (p.Leu1004=) c.3003T= (p.Leu1001=) c.2964T= (p.Leu988=) c.2910T= (p.Leu970=) c.2814T= (p.Leu938=) c.2784T= (p.Leu928=) c.2709T= (p.Leu903=) c.2607T= (p.Leu869=) c.2238T= (p.Leu746=) | |
| 5 | g.112838682A= | CA1573485933 | APC | c.2753A= (n.2753A=) c.3142A= (p.Lys1048=) c.*3094A= (n.*3094A=) c.3034A= (p.Lys1012=) c.3088A= (p.Lys1030=) c.1441A= c.*2410A= (n.*2410A=) c.230+9710A= c.3118A= (p.Lys1040=) c.3013A= (p.Lys1005=) c.3004A= (p.Lys1002=) c.2965A= (p.Lys989=) c.2911A= (p.Lys971=) c.2815A= (p.Lys939=) c.2785A= (p.Lys929=) c.2710A= (p.Lys904=) c.2608A= (p.Lys870=) c.2239A= (p.Lys747=) | |
| 5 | g.112838682A>C | CA16028094 | APC | c.2753A>C (n.2753A>C) c.3142A>C (p.Lys1048Gln) c.*3094A>C (n.*3094A>C) c.3034A>C (p.Lys1012Gln) c.3088A>C (p.Lys1030Gln) c.1441A>C c.*2410A>C (n.*2410A>C) c.230+9710A>C c.3118A>C (p.Lys1040Gln) c.3013A>C (p.Lys1005Gln) c.3004A>C (p.Lys1002Gln) c.2965A>C (p.Lys989Gln) c.2911A>C (p.Lys971Gln) c.2815A>C (p.Lys939Gln) c.2785A>C (p.Lys929Gln) c.2710A>C (p.Lys904Gln) c.2608A>C (p.Lys870Gln) c.2239A>C (p.Lys747Gln) | ClinVar dbSNP |
| 5 | g.112838682A>G | CA16028095 | APC | c.2753A>G (n.2753A>G) c.3142A>G (p.Lys1048Glu) c.*3094A>G (n.*3094A>G) c.3034A>G (p.Lys1012Glu) c.3088A>G (p.Lys1030Glu) c.1441A>G c.*2410A>G (n.*2410A>G) c.230+9710A>G c.3118A>G (p.Lys1040Glu) c.3013A>G (p.Lys1005Glu) c.3004A>G (p.Lys1002Glu) c.2965A>G (p.Lys989Glu) c.2911A>G (p.Lys971Glu) c.2815A>G (p.Lys939Glu) c.2785A>G (p.Lys929Glu) c.2710A>G (p.Lys904Glu) c.2608A>G (p.Lys870Glu) c.2239A>G (p.Lys747Glu) | dbSNP |
| 5 | g.112838682A>T | CA008039 | APC | c.2753A>T (n.2753A>T) c.3142A>T (p.Lys1048Ter) c.*3094A>T (n.*3094A>T) c.3034A>T (p.Lys1012Ter) c.3088A>T (p.Lys1030Ter) c.1441A>T c.*2410A>T (n.*2410A>T) c.230+9710A>T c.3118A>T (p.Lys1040Ter) c.3013A>T (p.Lys1005Ter) c.3004A>T (p.Lys1002Ter) c.2965A>T (p.Lys989Ter) c.2911A>T (p.Lys971Ter) c.2815A>T (p.Lys939Ter) c.2785A>T (p.Lys929Ter) c.2710A>T (p.Lys904Ter) c.2608A>T (p.Lys870Ter) c.2239A>T (p.Lys747Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 5 | g.112838684dup | CA658655908 | APC | c.2755dup (n.2755dup) c.3144dup (p.Tyr1049IlefsTer4) c.*3096dup (n.*3096dup) c.3036dup (p.Tyr1013IlefsTer4) c.3090dup (p.Tyr1031IlefsTer4) c.1443dup c.*2412dup (n.*2412dup) c.230+9712dup c.3120dup (p.Tyr1041IlefsTer4) c.3015dup (p.Tyr1006IlefsTer4) c.3006dup (p.Tyr1003IlefsTer4) c.2967dup (p.Tyr990IlefsTer4) c.2913dup (p.Tyr972IlefsTer4) c.2817dup (p.Tyr940IlefsTer4) c.2787dup (p.Tyr930IlefsTer4) c.2712dup (p.Tyr905IlefsTer4) c.2610dup (p.Tyr871IlefsTer4) c.2241dup (p.Tyr748IlefsTer4) | ClinVar dbSNP |
| 5 | g.112838683A>C | CA16028096 | APC | c.2754A>C (n.2754A>C) c.3143A>C (p.Lys1048Thr) c.*3095A>C (n.*3095A>C) c.3035A>C (p.Lys1012Thr) c.3089A>C (p.Lys1030Thr) c.1442A>C c.*2411A>C (n.*2411A>C) c.230+9711A>C c.3119A>C (p.Lys1040Thr) c.3014A>C (p.Lys1005Thr) c.3005A>C (p.Lys1002Thr) c.2966A>C (p.Lys989Thr) c.2912A>C (p.Lys971Thr) c.2816A>C (p.Lys939Thr) c.2786A>C (p.Lys929Thr) c.2711A>C (p.Lys904Thr) c.2609A>C (p.Lys870Thr) c.2240A>C (p.Lys747Thr) | |
| 5 | g.112838683A>G | CA16028097 | APC | c.2754A>G (n.2754A>G) c.3143A>G (p.Lys1048Arg) c.*3095A>G (n.*3095A>G) c.3035A>G (p.Lys1012Arg) c.3089A>G (p.Lys1030Arg) c.1442A>G c.*2411A>G (n.*2411A>G) c.230+9711A>G c.3119A>G (p.Lys1040Arg) c.3014A>G (p.Lys1005Arg) c.3005A>G (p.Lys1002Arg) c.2966A>G (p.Lys989Arg) c.2912A>G (p.Lys971Arg) c.2816A>G (p.Lys939Arg) c.2786A>G (p.Lys929Arg) c.2711A>G (p.Lys904Arg) c.2609A>G (p.Lys870Arg) c.2240A>G (p.Lys747Arg) | |
| 5 | g.112838683A>T | CA16028098 | APC | c.2754A>T (n.2754A>T) c.3143A>T (p.Lys1048Ile) c.*3095A>T (n.*3095A>T) c.3035A>T (p.Lys1012Ile) c.3089A>T (p.Lys1030Ile) c.1442A>T c.*2411A>T (n.*2411A>T) c.230+9711A>T c.3119A>T (p.Lys1040Ile) c.3014A>T (p.Lys1005Ile) c.3005A>T (p.Lys1002Ile) c.2966A>T (p.Lys989Ile) c.2912A>T (p.Lys971Ile) c.2816A>T (p.Lys939Ile) c.2786A>T (p.Lys929Ile) c.2711A>T (p.Lys904Ile) c.2609A>T (p.Lys870Ile) c.2240A>T (p.Lys747Ile) | dbSNP |
| 5 | g.112838684A>C | CA16028099 | APC | c.2755A>C (n.2755A>C) c.3144A>C (p.Lys1048Asn) c.*3096A>C (n.*3096A>C) c.3036A>C (p.Lys1012Asn) c.3090A>C (p.Lys1030Asn) c.1443A>C c.*2412A>C (n.*2412A>C) c.230+9712A>C c.3120A>C (p.Lys1040Asn) c.3015A>C (p.Lys1005Asn) c.3006A>C (p.Lys1002Asn) c.2967A>C (p.Lys989Asn) c.2913A>C (p.Lys971Asn) c.2817A>C (p.Lys939Asn) c.2787A>C (p.Lys929Asn) c.2712A>C (p.Lys904Asn) c.2610A>C (p.Lys870Asn) c.2241A>C (p.Lys747Asn) | |
| 5 | g.112838684A>G | CA445963170 | APC | c.2755A>G (n.2755A>G) c.3144A>G (p.Lys1048=) c.*3096A>G (n.*3096A>G) c.3036A>G (p.Lys1012=) c.3090A>G (p.Lys1030=) c.1443A>G c.*2412A>G (n.*2412A>G) c.230+9712A>G c.3120A>G (p.Lys1040=) c.3015A>G (p.Lys1005=) c.3006A>G (p.Lys1002=) c.2967A>G (p.Lys989=) c.2913A>G (p.Lys971=) c.2817A>G (p.Lys939=) c.2787A>G (p.Lys929=) c.2712A>G (p.Lys904=) c.2610A>G (p.Lys870=) c.2241A>G (p.Lys747=) | dbSNP |
| 5 | g.112838684A>T | CA16028100 | APC | c.2755A>T (n.2755A>T) c.3144A>T (p.Lys1048Asn) c.*3096A>T (n.*3096A>T) c.3036A>T (p.Lys1012Asn) c.3090A>T (p.Lys1030Asn) c.1443A>T c.*2412A>T (n.*2412A>T) c.230+9712A>T c.3120A>T (p.Lys1040Asn) c.3015A>T (p.Lys1005Asn) c.3006A>T (p.Lys1002Asn) c.2967A>T (p.Lys989Asn) c.2913A>T (p.Lys971Asn) c.2817A>T (p.Lys939Asn) c.2787A>T (p.Lys929Asn) c.2712A>T (p.Lys904Asn) c.2610A>T (p.Lys870Asn) c.2241A>T (p.Lys747Asn) | ClinVar dbSNP |
| 5 | g.112838685del | CA2695204887 | APC | c.2756del (n.2756del) c.3145del (p.Tyr1049IlefsTer6) c.*3097del (n.*3097del) c.3037del (p.Tyr1013IlefsTer6) c.3091del (p.Tyr1031IlefsTer6) c.1444del c.*2413del (n.*2413del) c.230+9713del c.3121del (p.Tyr1041IlefsTer6) c.3016del (p.Tyr1006IlefsTer6) c.3007del (p.Tyr1003IlefsTer6) c.2968del (p.Tyr990IlefsTer6) c.2914del (p.Tyr972IlefsTer6) c.2818del (p.Tyr940IlefsTer6) c.2788del (p.Tyr930IlefsTer6) c.2713del (p.Tyr905IlefsTer6) c.2611del (p.Tyr871IlefsTer6) c.2242del (p.Tyr748IlefsTer6) | |
| 5 | g.112838685T>A | CA16028101 | APC | c.2756T>A (n.2756T>A) c.3145T>A (p.Tyr1049Asn) c.*3097T>A (n.*3097T>A) c.3037T>A (p.Tyr1013Asn) c.3091T>A (p.Tyr1031Asn) c.1444T>A c.*2413T>A (n.*2413T>A) c.230+9713T>A c.3121T>A (p.Tyr1041Asn) c.3016T>A (p.Tyr1006Asn) c.3007T>A (p.Tyr1003Asn) c.2968T>A (p.Tyr990Asn) c.2914T>A (p.Tyr972Asn) c.2818T>A (p.Tyr940Asn) c.2788T>A (p.Tyr930Asn) c.2713T>A (p.Tyr905Asn) c.2611T>A (p.Tyr871Asn) c.2242T>A (p.Tyr748Asn) | dbSNP |
| 5 | g.112838685T>C | CA16028102 | APC | c.2756T>C (n.2756T>C) c.3145T>C (p.Tyr1049His) c.*3097T>C (n.*3097T>C) c.3037T>C (p.Tyr1013His) c.3091T>C (p.Tyr1031His) c.1444T>C c.*2413T>C (n.*2413T>C) c.230+9713T>C c.3121T>C (p.Tyr1041His) c.3016T>C (p.Tyr1006His) c.3007T>C (p.Tyr1003His) c.2968T>C (p.Tyr990His) c.2914T>C (p.Tyr972His) c.2818T>C (p.Tyr940His) c.2788T>C (p.Tyr930His) c.2713T>C (p.Tyr905His) c.2611T>C (p.Tyr871His) c.2242T>C (p.Tyr748His) | dbSNP |
| 5 | g.112838685T>G | CA16028103 | APC | c.2756T>G (n.2756T>G) c.3145T>G (p.Tyr1049Asp) c.*3097T>G (n.*3097T>G) c.3037T>G (p.Tyr1013Asp) c.3091T>G (p.Tyr1031Asp) c.1444T>G c.*2413T>G (n.*2413T>G) c.230+9713T>G c.3121T>G (p.Tyr1041Asp) c.3016T>G (p.Tyr1006Asp) c.3007T>G (p.Tyr1003Asp) c.2968T>G (p.Tyr990Asp) c.2914T>G (p.Tyr972Asp) c.2818T>G (p.Tyr940Asp) c.2788T>G (p.Tyr930Asp) c.2713T>G (p.Tyr905Asp) c.2611T>G (p.Tyr871Asp) c.2242T>G (p.Tyr748Asp) | |
| 5 | g.112838686A>C | CA16028104 | APC | c.2757A>C (n.2757A>C) c.3146A>C (p.Tyr1049Ser) c.*3098A>C (n.*3098A>C) c.3038A>C (p.Tyr1013Ser) c.3092A>C (p.Tyr1031Ser) c.1445A>C c.*2414A>C (n.*2414A>C) c.230+9714A>C c.3122A>C (p.Tyr1041Ser) c.3017A>C (p.Tyr1006Ser) c.3008A>C (p.Tyr1003Ser) c.2969A>C (p.Tyr990Ser) c.2915A>C (p.Tyr972Ser) c.2819A>C (p.Tyr940Ser) c.2789A>C (p.Tyr930Ser) c.2714A>C (p.Tyr905Ser) c.2612A>C (p.Tyr871Ser) c.2243A>C (p.Tyr748Ser) | dbSNP |
| 5 | g.112838686A>G | CA16028105 | APC | c.2757A>G (n.2757A>G) c.3146A>G (p.Tyr1049Cys) c.*3098A>G (n.*3098A>G) c.3038A>G (p.Tyr1013Cys) c.3092A>G (p.Tyr1031Cys) c.1445A>G c.*2414A>G (n.*2414A>G) c.230+9714A>G c.3122A>G (p.Tyr1041Cys) c.3017A>G (p.Tyr1006Cys) c.3008A>G (p.Tyr1003Cys) c.2969A>G (p.Tyr990Cys) c.2915A>G (p.Tyr972Cys) c.2819A>G (p.Tyr940Cys) c.2789A>G (p.Tyr930Cys) c.2714A>G (p.Tyr905Cys) c.2612A>G (p.Tyr871Cys) c.2243A>G (p.Tyr748Cys) | ClinVar dbSNP |
| 5 | g.112838686A>T | CA16028106 | APC | c.2757A>T (n.2757A>T) c.3146A>T (p.Tyr1049Phe) c.*3098A>T (n.*3098A>T) c.3038A>T (p.Tyr1013Phe) c.3092A>T (p.Tyr1031Phe) c.1445A>T c.*2414A>T (n.*2414A>T) c.230+9714A>T c.3122A>T (p.Tyr1041Phe) c.3017A>T (p.Tyr1006Phe) c.3008A>T (p.Tyr1003Phe) c.2969A>T (p.Tyr990Phe) c.2915A>T (p.Tyr972Phe) c.2819A>T (p.Tyr940Phe) c.2789A>T (p.Tyr930Phe) c.2714A>T (p.Tyr905Phe) c.2612A>T (p.Tyr871Phe) c.2243A>T (p.Tyr748Phe) | dbSNP |
| 5 | g.112838687T>A | CA16028107 | APC | c.2758T>A (n.2758T>A) c.3147T>A (p.Tyr1049Ter) c.*3099T>A (n.*3099T>A) c.3039T>A (p.Tyr1013Ter) c.3093T>A (p.Tyr1031Ter) c.1446T>A c.*2415T>A (n.*2415T>A) c.230+9715T>A c.3123T>A (p.Tyr1041Ter) c.3018T>A (p.Tyr1006Ter) c.3009T>A (p.Tyr1003Ter) c.2970T>A (p.Tyr990Ter) c.2916T>A (p.Tyr972Ter) c.2820T>A (p.Tyr940Ter) c.2790T>A (p.Tyr930Ter) c.2715T>A (p.Tyr905Ter) c.2613T>A (p.Tyr871Ter) c.2244T>A (p.Tyr748Ter) | dbSNP COSMIC |
| 5 | g.112838687T>C | CA445963171 | APC | c.2758T>C (n.2758T>C) c.3147T>C (p.Tyr1049=) c.*3099T>C (n.*3099T>C) c.3039T>C (p.Tyr1013=) c.3093T>C (p.Tyr1031=) c.1446T>C c.*2415T>C (n.*2415T>C) c.230+9715T>C c.3123T>C (p.Tyr1041=) c.3018T>C (p.Tyr1006=) c.3009T>C (p.Tyr1003=) c.2970T>C (p.Tyr990=) c.2916T>C (p.Tyr972=) c.2820T>C (p.Tyr940=) c.2790T>C (p.Tyr930=) c.2715T>C (p.Tyr905=) c.2613T>C (p.Tyr871=) c.2244T>C (p.Tyr748=) | dbSNP gnomAD v4 |
| 5 | g.112838687T>G | CA16028108 | APC | c.2758T>G (n.2758T>G) c.3147T>G (p.Tyr1049Ter) c.*3099T>G (n.*3099T>G) c.3039T>G (p.Tyr1013Ter) c.3093T>G (p.Tyr1031Ter) c.1446T>G c.*2415T>G (n.*2415T>G) c.230+9715T>G c.3123T>G (p.Tyr1041Ter) c.3018T>G (p.Tyr1006Ter) c.3009T>G (p.Tyr1003Ter) c.2970T>G (p.Tyr990Ter) c.2916T>G (p.Tyr972Ter) c.2820T>G (p.Tyr940Ter) c.2790T>G (p.Tyr930Ter) c.2715T>G (p.Tyr905Ter) c.2613T>G (p.Tyr871Ter) c.2244T>G (p.Tyr748Ter) | ClinVar COSMIC |
| 5 | g.112838688T>A | CA16028109 | APC | c.2759T>A (n.2759T>A) c.3148T>A (p.Ser1050Thr) c.*3100T>A (n.*3100T>A) c.3040T>A (p.Ser1014Thr) c.3094T>A (p.Ser1032Thr) c.1447T>A c.*2416T>A (n.*2416T>A) c.230+9716T>A c.3124T>A (p.Ser1042Thr) c.3019T>A (p.Ser1007Thr) c.3010T>A (p.Ser1004Thr) c.2971T>A (p.Ser991Thr) c.2917T>A (p.Ser973Thr) c.2821T>A (p.Ser941Thr) c.2791T>A (p.Ser931Thr) c.2716T>A (p.Ser906Thr) c.2614T>A (p.Ser872Thr) c.2245T>A (p.Ser749Thr) | dbSNP |
| 5 | g.112838688T>C | CA16028110 | APC | c.2759T>C (n.2759T>C) c.3148T>C (p.Ser1050Pro) c.*3100T>C (n.*3100T>C) c.3040T>C (p.Ser1014Pro) c.3094T>C (p.Ser1032Pro) c.1447T>C c.*2416T>C (n.*2416T>C) c.230+9716T>C c.3124T>C (p.Ser1042Pro) c.3019T>C (p.Ser1007Pro) c.3010T>C (p.Ser1004Pro) c.2971T>C (p.Ser991Pro) c.2917T>C (p.Ser973Pro) c.2821T>C (p.Ser941Pro) c.2791T>C (p.Ser931Pro) c.2716T>C (p.Ser906Pro) c.2614T>C (p.Ser872Pro) c.2245T>C (p.Ser749Pro) | dbSNP |
| 5 | g.112838688T>G | CA16028111 | APC | c.2759T>G (n.2759T>G) c.3148T>G (p.Ser1050Ala) c.*3100T>G (n.*3100T>G) c.3040T>G (p.Ser1014Ala) c.3094T>G (p.Ser1032Ala) c.1447T>G c.*2416T>G (n.*2416T>G) c.230+9716T>G c.3124T>G (p.Ser1042Ala) c.3019T>G (p.Ser1007Ala) c.3010T>G (p.Ser1004Ala) c.2971T>G (p.Ser991Ala) c.2917T>G (p.Ser973Ala) c.2821T>G (p.Ser941Ala) c.2791T>G (p.Ser931Ala) c.2716T>G (p.Ser906Ala) c.2614T>G (p.Ser872Ala) c.2245T>G (p.Ser749Ala) | |
| 5 | g.112838689C>A | CA16028112 | APC | c.2760C>A (n.2760C>A) c.3149C>A (p.Ser1050Ter) c.*3101C>A (n.*3101C>A) c.3041C>A (p.Ser1014Ter) c.3095C>A (p.Ser1032Ter) c.1448C>A c.*2417C>A (n.*2417C>A) c.230+9717C>A c.3125C>A (p.Ser1042Ter) c.3020C>A (p.Ser1007Ter) c.3011C>A (p.Ser1004Ter) c.2972C>A (p.Ser991Ter) c.2918C>A (p.Ser973Ter) c.2822C>A (p.Ser941Ter) c.2792C>A (p.Ser931Ter) c.2717C>A (p.Ser906Ter) c.2615C>A (p.Ser872Ter) c.2246C>A (p.Ser749Ter) | dbSNP |
| 5 | g.112838689C>G | CA16028113 | APC | c.2760C>G (n.2760C>G) c.3149C>G (p.Ser1050Ter) c.*3101C>G (n.*3101C>G) c.3041C>G (p.Ser1014Ter) c.3095C>G (p.Ser1032Ter) c.1448C>G c.*2417C>G (n.*2417C>G) c.230+9717C>G c.3125C>G (p.Ser1042Ter) c.3020C>G (p.Ser1007Ter) c.3011C>G (p.Ser1004Ter) c.2972C>G (p.Ser991Ter) c.2918C>G (p.Ser973Ter) c.2822C>G (p.Ser941Ter) c.2792C>G (p.Ser931Ter) c.2717C>G (p.Ser906Ter) c.2615C>G (p.Ser872Ter) c.2246C>G (p.Ser749Ter) | ClinVar dbSNP COSMIC |
| 5 | g.112838689C>T | CA16028114 | APC | c.2760C>T (n.2760C>T) c.3149C>T (p.Ser1050Leu) c.*3101C>T (n.*3101C>T) c.3041C>T (p.Ser1014Leu) c.3095C>T (p.Ser1032Leu) c.1448C>T c.*2417C>T (n.*2417C>T) c.230+9717C>T c.3125C>T (p.Ser1042Leu) c.3020C>T (p.Ser1007Leu) c.3011C>T (p.Ser1004Leu) c.2972C>T (p.Ser991Leu) c.2918C>T (p.Ser973Leu) c.2822C>T (p.Ser941Leu) c.2792C>T (p.Ser931Leu) c.2717C>T (p.Ser906Leu) c.2615C>T (p.Ser872Leu) c.2246C>T (p.Ser749Leu) | ClinVar dbSNP |
| 5 | g.112838690del | CA2573138670 | APC | c.2761del (n.2761del) c.3150del (p.Asp1051MetfsTer4) c.*3102del (n.*3102del) c.3042del (p.Asp1015MetfsTer4) c.3096del (p.Asp1033MetfsTer4) c.1449del c.*2418del (n.*2418del) c.230+9718del c.3126del (p.Asp1043MetfsTer4) c.3021del (p.Asp1008MetfsTer4) c.3012del (p.Asp1005MetfsTer4) c.2973del (p.Asp992MetfsTer4) c.2919del (p.Asp974MetfsTer4) c.2823del (p.Asp942MetfsTer4) c.2793del (p.Asp932MetfsTer4) c.2718del (p.Asp907MetfsTer4) c.2616del (p.Asp873MetfsTer4) c.2247del (p.Asp750MetfsTer4) | ClinVar dbSNP |
| 5 | g.112838690A>C | CA445963172 | APC | c.2761A>C (n.2761A>C) c.3150A>C (p.Ser1050=) c.*3102A>C (n.*3102A>C) c.3042A>C (p.Ser1014=) c.3096A>C (p.Ser1032=) c.1449A>C c.*2418A>C (n.*2418A>C) c.230+9718A>C c.3126A>C (p.Ser1042=) c.3021A>C (p.Ser1007=) c.3012A>C (p.Ser1004=) c.2973A>C (p.Ser991=) c.2919A>C (p.Ser973=) c.2823A>C (p.Ser941=) c.2793A>C (p.Ser931=) c.2718A>C (p.Ser906=) c.2616A>C (p.Ser872=) c.2247A>C (p.Ser749=) | |
| 5 | g.112838690A>G | CA445963173 | APC | c.2761A>G (n.2761A>G) c.3150A>G (p.Ser1050=) c.*3102A>G (n.*3102A>G) c.3042A>G (p.Ser1014=) c.3096A>G (p.Ser1032=) c.1449A>G c.*2418A>G (n.*2418A>G) c.230+9718A>G c.3126A>G (p.Ser1042=) c.3021A>G (p.Ser1007=) c.3012A>G (p.Ser1004=) c.2973A>G (p.Ser991=) c.2919A>G (p.Ser973=) c.2823A>G (p.Ser941=) c.2793A>G (p.Ser931=) c.2718A>G (p.Ser906=) c.2616A>G (p.Ser872=) c.2247A>G (p.Ser749=) | ClinVar dbSNP |
| 5 | g.112838690A>T | CA445963174 | APC | c.2761A>T (n.2761A>T) c.3150A>T (p.Ser1050=) c.*3102A>T (n.*3102A>T) c.3042A>T (p.Ser1014=) c.3096A>T (p.Ser1032=) c.1449A>T c.*2418A>T (n.*2418A>T) c.230+9718A>T c.3126A>T (p.Ser1042=) c.3021A>T (p.Ser1007=) c.3012A>T (p.Ser1004=) c.2973A>T (p.Ser991=) c.2919A>T (p.Ser973=) c.2823A>T (p.Ser941=) c.2793A>T (p.Ser931=) c.2718A>T (p.Ser906=) c.2616A>T (p.Ser872=) c.2247A>T (p.Ser749=) | dbSNP |