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.112838412_112838415del | CA658760838 | APC | c.2483_2486del (n.2483_2486del) c.2872_2875del (p.Ser958LysfsTer14) c.*2824_*2827del (n.*2824_*2827del) c.2764_2767del (p.Ser922LysfsTer14) c.2818_2821del (p.Ser940LysfsTer14) c.1171_1174del c.*2140_*2143del (n.*2140_*2143del) c.230+9440_230+9443del c.2848_2851del (p.Ser950LysfsTer14) c.2743_2746del (p.Ser915LysfsTer14) c.2734_2737del (p.Ser912LysfsTer14) c.2695_2698del (p.Ser899LysfsTer14) c.2641_2644del (p.Ser881LysfsTer14) c.2545_2548del (p.Ser849LysfsTer14) c.2515_2518del (p.Ser839LysfsTer14) c.2440_2443del (p.Ser814LysfsTer14) c.2338_2341del (p.Ser780LysfsTer14) c.1969_1972del (p.Ser657LysfsTer14) | |
| 5 | g.112838412T>A | CA16027475 | APC | c.2483T>A (n.2483T>A) c.2872T>A (p.Ser958Thr) c.*2824T>A (n.*2824T>A) c.2764T>A (p.Ser922Thr) c.2818T>A (p.Ser940Thr) c.1171T>A c.*2140T>A (n.*2140T>A) c.230+9440T>A c.2848T>A (p.Ser950Thr) c.2743T>A (p.Ser915Thr) c.2734T>A (p.Ser912Thr) c.2695T>A (p.Ser899Thr) c.2641T>A (p.Ser881Thr) c.2545T>A (p.Ser849Thr) c.2515T>A (p.Ser839Thr) c.2440T>A (p.Ser814Thr) c.2338T>A (p.Ser780Thr) c.1969T>A (p.Ser657Thr) | dbSNP |
| 5 | g.112838412T>C | CA16027476 | APC | c.2483T>C (n.2483T>C) c.2872T>C (p.Ser958Pro) c.*2824T>C (n.*2824T>C) c.2764T>C (p.Ser922Pro) c.2818T>C (p.Ser940Pro) c.1171T>C c.*2140T>C (n.*2140T>C) c.230+9440T>C c.2848T>C (p.Ser950Pro) c.2743T>C (p.Ser915Pro) c.2734T>C (p.Ser912Pro) c.2695T>C (p.Ser899Pro) c.2641T>C (p.Ser881Pro) c.2545T>C (p.Ser849Pro) c.2515T>C (p.Ser839Pro) c.2440T>C (p.Ser814Pro) c.2338T>C (p.Ser780Pro) c.1969T>C (p.Ser657Pro) | |
| 5 | g.112838412T>G | CA16027477 | APC | c.2483T>G (n.2483T>G) c.2872T>G (p.Ser958Ala) c.*2824T>G (n.*2824T>G) c.2764T>G (p.Ser922Ala) c.2818T>G (p.Ser940Ala) c.1171T>G c.*2140T>G (n.*2140T>G) c.230+9440T>G c.2848T>G (p.Ser950Ala) c.2743T>G (p.Ser915Ala) c.2734T>G (p.Ser912Ala) c.2695T>G (p.Ser899Ala) c.2641T>G (p.Ser881Ala) c.2545T>G (p.Ser849Ala) c.2515T>G (p.Ser839Ala) c.2440T>G (p.Ser814Ala) c.2338T>G (p.Ser780Ala) c.1969T>G (p.Ser657Ala) | dbSNP |
| 5 | g.112838412_112838413delinsTC | CA1573484264 | APC | c.2483_2484delinsTC (n.2483_2484delinsTC) c.2872_2873delinsTC (p.Ser958=) c.*2824_*2825delinsTC (n.*2824_*2825delinsTC) c.2764_2765delinsTC (p.Ser922=) c.2818_2819delinsTC (p.Ser940=) c.1171_1172delinsTC c.*2140_*2141delinsTC (n.*2140_*2141delinsTC) c.230+9440_230+9441delinsTC c.2848_2849delinsTC (p.Ser950=) c.2743_2744delinsTC (p.Ser915=) c.2734_2735delinsTC (p.Ser912=) c.2695_2696delinsTC (p.Ser899=) c.2641_2642delinsTC (p.Ser881=) c.2545_2546delinsTC (p.Ser849=) c.2515_2516delinsTC (p.Ser839=) c.2440_2441delinsTC (p.Ser814=) c.2338_2339delinsTC (p.Ser780=) c.1969_1970delinsTC (p.Ser657=) | |
| 5 | g.112838413del | CA645372780 | APC | c.2484del (n.2484del) c.2873del (p.Ser958TrpfsTer15) c.*2825del (n.*2825del) c.2765del (p.Ser922TrpfsTer15) c.2819del (p.Ser940TrpfsTer15) c.1172del c.*2141del (n.*2141del) c.230+9441del c.2849del (p.Ser950TrpfsTer15) c.2744del (p.Ser915TrpfsTer15) c.2735del (p.Ser912TrpfsTer15) c.2696del (p.Ser899TrpfsTer15) c.2642del (p.Ser881TrpfsTer15) c.2546del (p.Ser849TrpfsTer15) c.2516del (p.Ser839TrpfsTer15) c.2441del (p.Ser814TrpfsTer15) c.2339del (p.Ser780TrpfsTer15) c.1970del (p.Ser657TrpfsTer15) | ClinVar dbSNP |
| 5 | g.112838413C>A | CA16027478 | APC | c.2484C>A (n.2484C>A) c.2873C>A (p.Ser958Ter) c.*2825C>A (n.*2825C>A) c.2765C>A (p.Ser922Ter) c.2819C>A (p.Ser940Ter) c.1172C>A c.*2141C>A (n.*2141C>A) c.230+9441C>A c.2849C>A (p.Ser950Ter) c.2744C>A (p.Ser915Ter) c.2735C>A (p.Ser912Ter) c.2696C>A (p.Ser899Ter) c.2642C>A (p.Ser881Ter) c.2546C>A (p.Ser849Ter) c.2516C>A (p.Ser839Ter) c.2441C>A (p.Ser814Ter) c.2339C>A (p.Ser780Ter) c.1970C>A (p.Ser657Ter) | dbSNP gnomAD v4 COSMIC |
| 5 | g.112838413C= | CA1573484270 | APC | c.2484C= (n.2484C=) c.2873C= (p.Ser958=) c.*2825C= (n.*2825C=) c.2765C= (p.Ser922=) c.2819C= (p.Ser940=) c.1172C= c.*2141C= (n.*2141C=) c.230+9441C= c.2849C= (p.Ser950=) c.2744C= (p.Ser915=) c.2735C= (p.Ser912=) c.2696C= (p.Ser899=) c.2642C= (p.Ser881=) c.2546C= (p.Ser849=) c.2516C= (p.Ser839=) c.2441C= (p.Ser814=) c.2339C= (p.Ser780=) c.1970C= (p.Ser657=) | |
| 5 | g.112838413C>G | CA16027479 | APC | c.2484C>G (n.2484C>G) c.2873C>G (p.Ser958Trp) c.*2825C>G (n.*2825C>G) c.2765C>G (p.Ser922Trp) c.2819C>G (p.Ser940Trp) c.1172C>G c.*2141C>G (n.*2141C>G) c.230+9441C>G c.2849C>G (p.Ser950Trp) c.2744C>G (p.Ser915Trp) c.2735C>G (p.Ser912Trp) c.2696C>G (p.Ser899Trp) c.2642C>G (p.Ser881Trp) c.2546C>G (p.Ser849Trp) c.2516C>G (p.Ser839Trp) c.2441C>G (p.Ser814Trp) c.2339C>G (p.Ser780Trp) c.1970C>G (p.Ser657Trp) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112838413C>T | CA16027480 | APC | c.2484C>T (n.2484C>T) c.2873C>T (p.Ser958Leu) c.*2825C>T (n.*2825C>T) c.2765C>T (p.Ser922Leu) c.2819C>T (p.Ser940Leu) c.1172C>T c.*2141C>T (n.*2141C>T) c.230+9441C>T c.2849C>T (p.Ser950Leu) c.2744C>T (p.Ser915Leu) c.2735C>T (p.Ser912Leu) c.2696C>T (p.Ser899Leu) c.2642C>T (p.Ser881Leu) c.2546C>T (p.Ser849Leu) c.2516C>T (p.Ser839Leu) c.2441C>T (p.Ser814Leu) c.2339C>T (p.Ser780Leu) c.1970C>T (p.Ser657Leu) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112838414G>A | CA033599 | APC | c.2485G>A (n.2485G>A) c.2874G>A (p.Ser958=) c.*2826G>A (n.*2826G>A) c.2766G>A (p.Ser922=) c.2820G>A (p.Ser940=) c.1173G>A c.*2142G>A (n.*2142G>A) c.230+9442G>A c.2850G>A (p.Ser950=) c.2745G>A (p.Ser915=) c.2736G>A (p.Ser912=) c.2697G>A (p.Ser899=) c.2643G>A (p.Ser881=) c.2547G>A (p.Ser849=) c.2517G>A (p.Ser839=) c.2442G>A (p.Ser814=) c.2340G>A (p.Ser780=) c.1971G>A (p.Ser657=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112838414G>C | CA445962918 | APC | c.2485G>C (n.2485G>C) c.2874G>C (p.Ser958=) c.*2826G>C (n.*2826G>C) c.2766G>C (p.Ser922=) c.2820G>C (p.Ser940=) c.1173G>C c.*2142G>C (n.*2142G>C) c.230+9442G>C c.2850G>C (p.Ser950=) c.2745G>C (p.Ser915=) c.2736G>C (p.Ser912=) c.2697G>C (p.Ser899=) c.2643G>C (p.Ser881=) c.2547G>C (p.Ser849=) c.2517G>C (p.Ser839=) c.2442G>C (p.Ser814=) c.2340G>C (p.Ser780=) c.1971G>C (p.Ser657=) | dbSNP |
| 5 | g.112838414G= | CA1573484279 | APC | c.2485G= (n.2485G=) c.2874G= (p.Ser958=) c.*2826G= (n.*2826G=) c.2766G= (p.Ser922=) c.2820G= (p.Ser940=) c.1173G= c.*2142G= (n.*2142G=) c.230+9442G= c.2850G= (p.Ser950=) c.2745G= (p.Ser915=) c.2736G= (p.Ser912=) c.2697G= (p.Ser899=) c.2643G= (p.Ser881=) c.2547G= (p.Ser849=) c.2517G= (p.Ser839=) c.2442G= (p.Ser814=) c.2340G= (p.Ser780=) c.1971G= (p.Ser657=) | |
| 5 | g.112838414G>T | CA445962919 | APC | c.2485G>T (n.2485G>T) c.2874G>T (p.Ser958=) c.*2826G>T (n.*2826G>T) c.2766G>T (p.Ser922=) c.2820G>T (p.Ser940=) c.1173G>T c.*2142G>T (n.*2142G>T) c.230+9442G>T c.2850G>T (p.Ser950=) c.2745G>T (p.Ser915=) c.2736G>T (p.Ser912=) c.2697G>T (p.Ser899=) c.2643G>T (p.Ser881=) c.2547G>T (p.Ser849=) c.2517G>T (p.Ser839=) c.2442G>T (p.Ser814=) c.2340G>T (p.Ser780=) c.1971G>T (p.Ser657=) | dbSNP |
| 5 | g.112838415G>A | CA16027481 | APC | c.2486G>A (n.2486G>A) c.2875G>A (p.Glu959Lys) c.*2827G>A (n.*2827G>A) c.2767G>A (p.Glu923Lys) c.2821G>A (p.Glu941Lys) c.1174G>A c.*2143G>A (n.*2143G>A) c.230+9443G>A c.2851G>A (p.Glu951Lys) c.2746G>A (p.Glu916Lys) c.2737G>A (p.Glu913Lys) c.2698G>A (p.Glu900Lys) c.2644G>A (p.Glu882Lys) c.2548G>A (p.Glu850Lys) c.2518G>A (p.Glu840Lys) c.2443G>A (p.Glu815Lys) c.2341G>A (p.Glu781Lys) c.1972G>A (p.Glu658Lys) | dbSNP |
| 5 | g.112838415G>C | CA16027482 | APC | c.2486G>C (n.2486G>C) c.2875G>C (p.Glu959Gln) c.*2827G>C (n.*2827G>C) c.2767G>C (p.Glu923Gln) c.2821G>C (p.Glu941Gln) c.1174G>C c.*2143G>C (n.*2143G>C) c.230+9443G>C c.2851G>C (p.Glu951Gln) c.2746G>C (p.Glu916Gln) c.2737G>C (p.Glu913Gln) c.2698G>C (p.Glu900Gln) c.2644G>C (p.Glu882Gln) c.2548G>C (p.Glu850Gln) c.2518G>C (p.Glu840Gln) c.2443G>C (p.Glu815Gln) c.2341G>C (p.Glu781Gln) c.1972G>C (p.Glu658Gln) | |
| 5 | g.112838415G>T | CA16027483 | APC | c.2486G>T (n.2486G>T) c.2875G>T (p.Glu959Ter) c.*2827G>T (n.*2827G>T) c.2767G>T (p.Glu923Ter) c.2821G>T (p.Glu941Ter) c.1174G>T c.*2143G>T (n.*2143G>T) c.230+9443G>T c.2851G>T (p.Glu951Ter) c.2746G>T (p.Glu916Ter) c.2737G>T (p.Glu913Ter) c.2698G>T (p.Glu900Ter) c.2644G>T (p.Glu882Ter) c.2548G>T (p.Glu850Ter) c.2518G>T (p.Glu840Ter) c.2443G>T (p.Glu815Ter) c.2341G>T (p.Glu781Ter) c.1972G>T (p.Glu658Ter) | ClinVar COSMIC |
| 5 | g.112838415_112838416delinsGA | CA1573484283 | APC | c.2486_2487delinsGA (n.2486_2487delinsGA) c.2875_2876delinsGA (p.Glu959=) c.*2827_*2828delinsGA (n.*2827_*2828delinsGA) c.2767_2768delinsGA (p.Glu923=) c.2821_2822delinsGA (p.Glu941=) c.1174_1175delinsGA c.*2143_*2144delinsGA (n.*2143_*2144delinsGA) c.230+9443_230+9444delinsGA c.2851_2852delinsGA (p.Glu951=) c.2746_2747delinsGA (p.Glu916=) c.2737_2738delinsGA (p.Glu913=) c.2698_2699delinsGA (p.Glu900=) c.2644_2645delinsGA (p.Glu882=) c.2548_2549delinsGA (p.Glu850=) c.2518_2519delinsGA (p.Glu840=) c.2443_2444delinsGA (p.Glu815=) c.2341_2342delinsGA (p.Glu781=) c.1972_1973delinsGA (p.Glu658=) | |
| 5 | g.112838416A>C | CA16027484 | APC | c.2487A>C (n.2487A>C) c.2876A>C (p.Glu959Ala) c.*2828A>C (n.*2828A>C) c.2768A>C (p.Glu923Ala) c.2822A>C (p.Glu941Ala) c.1175A>C c.*2144A>C (n.*2144A>C) c.230+9444A>C c.2852A>C (p.Glu951Ala) c.2747A>C (p.Glu916Ala) c.2738A>C (p.Glu913Ala) c.2699A>C (p.Glu900Ala) c.2645A>C (p.Glu882Ala) c.2549A>C (p.Glu850Ala) c.2519A>C (p.Glu840Ala) c.2444A>C (p.Glu815Ala) c.2342A>C (p.Glu781Ala) c.1973A>C (p.Glu658Ala) | |
| 5 | g.112838416A>G | CA16027485 | APC | c.2487A>G (n.2487A>G) c.2876A>G (p.Glu959Gly) c.*2828A>G (n.*2828A>G) c.2768A>G (p.Glu923Gly) c.2822A>G (p.Glu941Gly) c.1175A>G c.*2144A>G (n.*2144A>G) c.230+9444A>G c.2852A>G (p.Glu951Gly) c.2747A>G (p.Glu916Gly) c.2738A>G (p.Glu913Gly) c.2699A>G (p.Glu900Gly) c.2645A>G (p.Glu882Gly) c.2549A>G (p.Glu850Gly) c.2519A>G (p.Glu840Gly) c.2444A>G (p.Glu815Gly) c.2342A>G (p.Glu781Gly) c.1973A>G (p.Glu658Gly) | dbSNP gnomAD v4 |
| 5 | g.112838416A>T | CA16027486 | APC | c.2487A>T (n.2487A>T) c.2876A>T (p.Glu959Val) c.*2828A>T (n.*2828A>T) c.2768A>T (p.Glu923Val) c.2822A>T (p.Glu941Val) c.1175A>T c.*2144A>T (n.*2144A>T) c.230+9444A>T c.2852A>T (p.Glu951Val) c.2747A>T (p.Glu916Val) c.2738A>T (p.Glu913Val) c.2699A>T (p.Glu900Val) c.2645A>T (p.Glu882Val) c.2549A>T (p.Glu850Val) c.2519A>T (p.Glu840Val) c.2444A>T (p.Glu815Val) c.2342A>T (p.Glu781Val) c.1973A>T (p.Glu658Val) | dbSNP |
| 5 | g.112838419del | CA658683399 | APC | c.2490del (n.2490del) c.2879del (p.Asn960IlefsTer13) c.*2831del (n.*2831del) c.2771del (p.Asn924IlefsTer13) c.2825del (p.Asn942IlefsTer13) c.1178del c.*2147del (n.*2147del) c.230+9447del c.2855del (p.Asn952IlefsTer13) c.2750del (p.Asn917IlefsTer13) c.2741del (p.Asn914IlefsTer13) c.2702del (p.Asn901IlefsTer13) c.2648del (p.Asn883IlefsTer13) c.2552del (p.Asn851IlefsTer13) c.2522del (p.Asn841IlefsTer13) c.2447del (p.Asn816IlefsTer13) c.2345del (p.Asn782IlefsTer13) c.1976del (p.Asn659IlefsTer13) | ClinVar dbSNP |
| 5 | g.112838417A= | CA1573484291 | APC | c.2488A= (n.2488A=) c.2877A= (p.Glu959=) c.*2829A= (n.*2829A=) c.2769A= (p.Glu923=) c.2823A= (p.Glu941=) c.1176A= c.*2145A= (n.*2145A=) c.230+9445A= c.2853A= (p.Glu951=) c.2748A= (p.Glu916=) c.2739A= (p.Glu913=) c.2700A= (p.Glu900=) c.2646A= (p.Glu882=) c.2550A= (p.Glu850=) c.2520A= (p.Glu840=) c.2445A= (p.Glu815=) c.2343A= (p.Glu781=) c.1974A= (p.Glu658=) | |
| 5 | g.112838417A>C | CA16027487 | APC | c.2488A>C (n.2488A>C) c.2877A>C (p.Glu959Asp) c.*2829A>C (n.*2829A>C) c.2769A>C (p.Glu923Asp) c.2823A>C (p.Glu941Asp) c.1176A>C c.*2145A>C (n.*2145A>C) c.230+9445A>C c.2853A>C (p.Glu951Asp) c.2748A>C (p.Glu916Asp) c.2739A>C (p.Glu913Asp) c.2700A>C (p.Glu900Asp) c.2646A>C (p.Glu882Asp) c.2550A>C (p.Glu850Asp) c.2520A>C (p.Glu840Asp) c.2445A>C (p.Glu815Asp) c.2343A>C (p.Glu781Asp) c.1974A>C (p.Glu658Asp) | |
| 5 | g.112838417A>G | CA445962921 | APC | c.2488A>G (n.2488A>G) c.2877A>G (p.Glu959=) c.*2829A>G (n.*2829A>G) c.2769A>G (p.Glu923=) c.2823A>G (p.Glu941=) c.1176A>G c.*2145A>G (n.*2145A>G) c.230+9445A>G c.2853A>G (p.Glu951=) c.2748A>G (p.Glu916=) c.2739A>G (p.Glu913=) c.2700A>G (p.Glu900=) c.2646A>G (p.Glu882=) c.2550A>G (p.Glu850=) c.2520A>G (p.Glu840=) c.2445A>G (p.Glu815=) c.2343A>G (p.Glu781=) c.1974A>G (p.Glu658=) | ClinVar |
| 5 | g.112838417A>T | CA16027488 | APC | c.2488A>T (n.2488A>T) c.2877A>T (p.Glu959Asp) c.*2829A>T (n.*2829A>T) c.2769A>T (p.Glu923Asp) c.2823A>T (p.Glu941Asp) c.1176A>T c.*2145A>T (n.*2145A>T) c.230+9445A>T c.2853A>T (p.Glu951Asp) c.2748A>T (p.Glu916Asp) c.2739A>T (p.Glu913Asp) c.2700A>T (p.Glu900Asp) c.2646A>T (p.Glu882Asp) c.2550A>T (p.Glu850Asp) c.2520A>T (p.Glu840Asp) c.2445A>T (p.Glu815Asp) c.2343A>T (p.Glu781Asp) c.1974A>T (p.Glu658Asp) | ClinVar dbSNP |
| 5 | g.112838418A= | CA1573484300 | APC | c.2489A= (n.2489A=) c.2878A= (p.Asn960=) c.*2830A= (n.*2830A=) c.2770A= (p.Asn924=) c.2824A= (p.Asn942=) c.1177A= c.*2146A= (n.*2146A=) c.230+9446A= c.2854A= (p.Asn952=) c.2749A= (p.Asn917=) c.2740A= (p.Asn914=) c.2701A= (p.Asn901=) c.2647A= (p.Asn883=) c.2551A= (p.Asn851=) c.2521A= (p.Asn841=) c.2446A= (p.Asn816=) c.2344A= (p.Asn782=) c.1975A= (p.Asn659=) | |
| 5 | g.112838418A>C | CA16027489 | APC | c.2489A>C (n.2489A>C) c.2878A>C (p.Asn960His) c.*2830A>C (n.*2830A>C) c.2770A>C (p.Asn924His) c.2824A>C (p.Asn942His) c.1177A>C c.*2146A>C (n.*2146A>C) c.230+9446A>C c.2854A>C (p.Asn952His) c.2749A>C (p.Asn917His) c.2740A>C (p.Asn914His) c.2701A>C (p.Asn901His) c.2647A>C (p.Asn883His) c.2551A>C (p.Asn851His) c.2521A>C (p.Asn841His) c.2446A>C (p.Asn816His) c.2344A>C (p.Asn782His) c.1975A>C (p.Asn659His) | |
| 5 | g.112838418A>G | CA16027490 | APC | c.2489A>G (n.2489A>G) c.2878A>G (p.Asn960Asp) c.*2830A>G (n.*2830A>G) c.2770A>G (p.Asn924Asp) c.2824A>G (p.Asn942Asp) c.1177A>G c.*2146A>G (n.*2146A>G) c.230+9446A>G c.2854A>G (p.Asn952Asp) c.2749A>G (p.Asn917Asp) c.2740A>G (p.Asn914Asp) c.2701A>G (p.Asn901Asp) c.2647A>G (p.Asn883Asp) c.2551A>G (p.Asn851Asp) c.2521A>G (p.Asn841Asp) c.2446A>G (p.Asn816Asp) c.2344A>G (p.Asn782Asp) c.1975A>G (p.Asn659Asp) | dbSNP COSMIC |
| 5 | g.112838418A>T | CA16027491 | APC | c.2489A>T (n.2489A>T) c.2878A>T (p.Asn960Tyr) c.*2830A>T (n.*2830A>T) c.2770A>T (p.Asn924Tyr) c.2824A>T (p.Asn942Tyr) c.1177A>T c.*2146A>T (n.*2146A>T) c.230+9446A>T c.2854A>T (p.Asn952Tyr) c.2749A>T (p.Asn917Tyr) c.2740A>T (p.Asn914Tyr) c.2701A>T (p.Asn901Tyr) c.2647A>T (p.Asn883Tyr) c.2551A>T (p.Asn851Tyr) c.2521A>T (p.Asn841Tyr) c.2446A>T (p.Asn816Tyr) c.2344A>T (p.Asn782Tyr) c.1975A>T (p.Asn659Tyr) | ClinVar dbSNP |
| 5 | g.112838419A>C | CA16027492 | APC | c.2490A>C (n.2490A>C) c.2879A>C (p.Asn960Thr) c.*2831A>C (n.*2831A>C) c.2771A>C (p.Asn924Thr) c.2825A>C (p.Asn942Thr) c.1178A>C c.*2147A>C (n.*2147A>C) c.230+9447A>C c.2855A>C (p.Asn952Thr) c.2750A>C (p.Asn917Thr) c.2741A>C (p.Asn914Thr) c.2702A>C (p.Asn901Thr) c.2648A>C (p.Asn883Thr) c.2552A>C (p.Asn851Thr) c.2522A>C (p.Asn841Thr) c.2447A>C (p.Asn816Thr) c.2345A>C (p.Asn782Thr) c.1976A>C (p.Asn659Thr) | |
| 5 | g.112838419A>G | CA16027493 | APC | c.2490A>G (n.2490A>G) c.2879A>G (p.Asn960Ser) c.*2831A>G (n.*2831A>G) c.2771A>G (p.Asn924Ser) c.2825A>G (p.Asn942Ser) c.1178A>G c.*2147A>G (n.*2147A>G) c.230+9447A>G c.2855A>G (p.Asn952Ser) c.2750A>G (p.Asn917Ser) c.2741A>G (p.Asn914Ser) c.2702A>G (p.Asn901Ser) c.2648A>G (p.Asn883Ser) c.2552A>G (p.Asn851Ser) c.2522A>G (p.Asn841Ser) c.2447A>G (p.Asn816Ser) c.2345A>G (p.Asn782Ser) c.1976A>G (p.Asn659Ser) | dbSNP |
| 5 | g.112838419A>T | CA16027494 | APC | c.2490A>T (n.2490A>T) c.2879A>T (p.Asn960Ile) c.*2831A>T (n.*2831A>T) c.2771A>T (p.Asn924Ile) c.2825A>T (p.Asn942Ile) c.1178A>T c.*2147A>T (n.*2147A>T) c.230+9447A>T c.2855A>T (p.Asn952Ile) c.2750A>T (p.Asn917Ile) c.2741A>T (p.Asn914Ile) c.2702A>T (p.Asn901Ile) c.2648A>T (p.Asn883Ile) c.2552A>T (p.Asn851Ile) c.2522A>T (p.Asn841Ile) c.2447A>T (p.Asn816Ile) c.2345A>T (p.Asn782Ile) c.1976A>T (p.Asn659Ile) | dbSNP |
| 5 | g.112838420T>A | CA16027495 | APC | c.2491T>A (n.2491T>A) c.2880T>A (p.Asn960Lys) c.*2832T>A (n.*2832T>A) c.2772T>A (p.Asn924Lys) c.2826T>A (p.Asn942Lys) c.1179T>A c.*2148T>A (n.*2148T>A) c.230+9448T>A c.2856T>A (p.Asn952Lys) c.2751T>A (p.Asn917Lys) c.2742T>A (p.Asn914Lys) c.2703T>A (p.Asn901Lys) c.2649T>A (p.Asn883Lys) c.2553T>A (p.Asn851Lys) c.2523T>A (p.Asn841Lys) c.2448T>A (p.Asn816Lys) c.2346T>A (p.Asn782Lys) c.1977T>A (p.Asn659Lys) | dbSNP |
| 5 | g.112838420T>C | CA445962922 | APC | c.2491T>C (n.2491T>C) c.2880T>C (p.Asn960=) c.*2832T>C (n.*2832T>C) c.2772T>C (p.Asn924=) c.2826T>C (p.Asn942=) c.1179T>C c.*2148T>C (n.*2148T>C) c.230+9448T>C c.2856T>C (p.Asn952=) c.2751T>C (p.Asn917=) c.2742T>C (p.Asn914=) c.2703T>C (p.Asn901=) c.2649T>C (p.Asn883=) c.2553T>C (p.Asn851=) c.2523T>C (p.Asn841=) c.2448T>C (p.Asn816=) c.2346T>C (p.Asn782=) c.1977T>C (p.Asn659=) | dbSNP |
| 5 | g.112838420T>G | CA16027496 | APC | c.2491T>G (n.2491T>G) c.2880T>G (p.Asn960Lys) c.*2832T>G (n.*2832T>G) c.2772T>G (p.Asn924Lys) c.2826T>G (p.Asn942Lys) c.1179T>G c.*2148T>G (n.*2148T>G) c.230+9448T>G c.2856T>G (p.Asn952Lys) c.2751T>G (p.Asn917Lys) c.2742T>G (p.Asn914Lys) c.2703T>G (p.Asn901Lys) c.2649T>G (p.Asn883Lys) c.2553T>G (p.Asn851Lys) c.2523T>G (p.Asn841Lys) c.2448T>G (p.Asn816Lys) c.2346T>G (p.Asn782Lys) c.1977T>G (p.Asn659Lys) | dbSNP |
| 5 | g.112838420T= | CA1573484310 | APC | c.2491T= (n.2491T=) c.2880T= (p.Asn960=) c.*2832T= (n.*2832T=) c.2772T= (p.Asn924=) c.2826T= (p.Asn942=) c.1179T= c.*2148T= (n.*2148T=) c.230+9448T= c.2856T= (p.Asn952=) c.2751T= (p.Asn917=) c.2742T= (p.Asn914=) c.2703T= (p.Asn901=) c.2649T= (p.Asn883=) c.2553T= (p.Asn851=) c.2523T= (p.Asn841=) c.2448T= (p.Asn816=) c.2346T= (p.Asn782=) c.1977T= (p.Asn659=) | |
| 5 | g.112838421del | CA445962923 | APC | c.2492del (n.2492del) c.2881del (p.Ser961GlnfsTer12) c.*2833del (n.*2833del) c.2773del (p.Ser925GlnfsTer12) c.2827del (p.Ser943GlnfsTer12) c.1180del c.*2149del (n.*2149del) c.230+9449del c.2857del (p.Ser953GlnfsTer12) c.2752del (p.Ser918GlnfsTer12) c.2743del (p.Ser915GlnfsTer12) c.2704del (p.Ser902GlnfsTer12) c.2650del (p.Ser884GlnfsTer12) c.2554del (p.Ser852GlnfsTer12) c.2524del (p.Ser842GlnfsTer12) c.2449del (p.Ser817GlnfsTer12) c.2347del (p.Ser783GlnfsTer12) c.1978del (p.Ser660GlnfsTer12) | COSMIC |
| 5 | g.112838421T>A | CA16027497 | APC | c.2492T>A (n.2492T>A) c.2881T>A (p.Ser961Thr) c.*2833T>A (n.*2833T>A) c.2773T>A (p.Ser925Thr) c.2827T>A (p.Ser943Thr) c.1180T>A c.*2149T>A (n.*2149T>A) c.230+9449T>A c.2857T>A (p.Ser953Thr) c.2752T>A (p.Ser918Thr) c.2743T>A (p.Ser915Thr) c.2704T>A (p.Ser902Thr) c.2650T>A (p.Ser884Thr) c.2554T>A (p.Ser852Thr) c.2524T>A (p.Ser842Thr) c.2449T>A (p.Ser817Thr) c.2347T>A (p.Ser783Thr) c.1978T>A (p.Ser660Thr) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112838421T>C | CA16027498 | APC | c.2492T>C (n.2492T>C) c.2881T>C (p.Ser961Pro) c.*2833T>C (n.*2833T>C) c.2773T>C (p.Ser925Pro) c.2827T>C (p.Ser943Pro) c.1180T>C c.*2149T>C (n.*2149T>C) c.230+9449T>C c.2857T>C (p.Ser953Pro) c.2752T>C (p.Ser918Pro) c.2743T>C (p.Ser915Pro) c.2704T>C (p.Ser902Pro) c.2650T>C (p.Ser884Pro) c.2554T>C (p.Ser852Pro) c.2524T>C (p.Ser842Pro) c.2449T>C (p.Ser817Pro) c.2347T>C (p.Ser783Pro) c.1978T>C (p.Ser660Pro) | dbSNP |
| 5 | g.112838421T>G | CA16027499 | APC | c.2492T>G (n.2492T>G) c.2881T>G (p.Ser961Ala) c.*2833T>G (n.*2833T>G) c.2773T>G (p.Ser925Ala) c.2827T>G (p.Ser943Ala) c.1180T>G c.*2149T>G (n.*2149T>G) c.230+9449T>G c.2857T>G (p.Ser953Ala) c.2752T>G (p.Ser918Ala) c.2743T>G (p.Ser915Ala) c.2704T>G (p.Ser902Ala) c.2650T>G (p.Ser884Ala) c.2554T>G (p.Ser852Ala) c.2524T>G (p.Ser842Ala) c.2449T>G (p.Ser817Ala) c.2347T>G (p.Ser783Ala) c.1978T>G (p.Ser660Ala) | |
| 5 | g.112838421T= | CA1573484314 | APC | c.2492T= (n.2492T=) c.2881T= (p.Ser961=) c.*2833T= (n.*2833T=) c.2773T= (p.Ser925=) c.2827T= (p.Ser943=) c.1180T= c.*2149T= (n.*2149T=) c.230+9449T= c.2857T= (p.Ser953=) c.2752T= (p.Ser918=) c.2743T= (p.Ser915=) c.2704T= (p.Ser902=) c.2650T= (p.Ser884=) c.2554T= (p.Ser852=) c.2524T= (p.Ser842=) c.2449T= (p.Ser817=) c.2347T= (p.Ser783=) c.1978T= (p.Ser660=) | |
| 5 | g.112838422C>A | CA16027500 | APC | c.2493C>A (n.2493C>A) c.2882C>A (p.Ser961Ter) c.*2834C>A (n.*2834C>A) c.2774C>A (p.Ser925Ter) c.2828C>A (p.Ser943Ter) c.1181C>A c.*2150C>A (n.*2150C>A) c.230+9450C>A c.2858C>A (p.Ser953Ter) c.2753C>A (p.Ser918Ter) c.2744C>A (p.Ser915Ter) c.2705C>A (p.Ser902Ter) c.2651C>A (p.Ser884Ter) c.2555C>A (p.Ser852Ter) c.2525C>A (p.Ser842Ter) c.2450C>A (p.Ser817Ter) c.2348C>A (p.Ser783Ter) c.1979C>A (p.Ser660Ter) | ClinVar dbSNP COSMIC |
| 5 | g.112838422C= | CA1573484327 | APC | c.2493C= (n.2493C=) c.2882C= (p.Ser961=) c.*2834C= (n.*2834C=) c.2774C= (p.Ser925=) c.2828C= (p.Ser943=) c.1181C= c.*2150C= (n.*2150C=) c.230+9450C= c.2858C= (p.Ser953=) c.2753C= (p.Ser918=) c.2744C= (p.Ser915=) c.2705C= (p.Ser902=) c.2651C= (p.Ser884=) c.2555C= (p.Ser852=) c.2525C= (p.Ser842=) c.2450C= (p.Ser817=) c.2348C= (p.Ser783=) c.1979C= (p.Ser660=) | |
| 5 | g.112838422C>G | CA16027501 | APC | c.2493C>G (n.2493C>G) c.2882C>G (p.Ser961Ter) c.*2834C>G (n.*2834C>G) c.2774C>G (p.Ser925Ter) c.2828C>G (p.Ser943Ter) c.1181C>G c.*2150C>G (n.*2150C>G) c.230+9450C>G c.2858C>G (p.Ser953Ter) c.2753C>G (p.Ser918Ter) c.2744C>G (p.Ser915Ter) c.2705C>G (p.Ser902Ter) c.2651C>G (p.Ser884Ter) c.2555C>G (p.Ser852Ter) c.2525C>G (p.Ser842Ter) c.2450C>G (p.Ser817Ter) c.2348C>G (p.Ser783Ter) c.1979C>G (p.Ser660Ter) | ClinVar dbSNP COSMIC |
| 5 | g.112838422C>T | CA16027502 | APC | c.2493C>T (n.2493C>T) c.2882C>T (p.Ser961Leu) c.*2834C>T (n.*2834C>T) c.2774C>T (p.Ser925Leu) c.2828C>T (p.Ser943Leu) c.1181C>T c.*2150C>T (n.*2150C>T) c.230+9450C>T c.2858C>T (p.Ser953Leu) c.2753C>T (p.Ser918Leu) c.2744C>T (p.Ser915Leu) c.2705C>T (p.Ser902Leu) c.2651C>T (p.Ser884Leu) c.2555C>T (p.Ser852Leu) c.2525C>T (p.Ser842Leu) c.2450C>T (p.Ser817Leu) c.2348C>T (p.Ser783Leu) c.1979C>T (p.Ser660Leu) | dbSNP COSMIC |
| 5 | g.112838423A= | CA1573484345 | APC | c.2494A= (n.2494A=) c.2883A= (p.Ser961=) c.*2835A= (n.*2835A=) c.2775A= (p.Ser925=) c.2829A= (p.Ser943=) c.1182A= c.*2151A= (n.*2151A=) c.230+9451A= c.2859A= (p.Ser953=) c.2754A= (p.Ser918=) c.2745A= (p.Ser915=) c.2706A= (p.Ser902=) c.2652A= (p.Ser884=) c.2556A= (p.Ser852=) c.2526A= (p.Ser842=) c.2451A= (p.Ser817=) c.2349A= (p.Ser783=) c.1980A= (p.Ser660=) | |
| 5 | g.112838423A>C | CA445962929 | APC | c.2494A>C (n.2494A>C) c.2883A>C (p.Ser961=) c.*2835A>C (n.*2835A>C) c.2775A>C (p.Ser925=) c.2829A>C (p.Ser943=) c.1182A>C c.*2151A>C (n.*2151A>C) c.230+9451A>C c.2859A>C (p.Ser953=) c.2754A>C (p.Ser918=) c.2745A>C (p.Ser915=) c.2706A>C (p.Ser902=) c.2652A>C (p.Ser884=) c.2556A>C (p.Ser852=) c.2526A>C (p.Ser842=) c.2451A>C (p.Ser817=) c.2349A>C (p.Ser783=) c.1980A>C (p.Ser660=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112838423A>G | CA445962927 | APC | c.2494A>G (n.2494A>G) c.2883A>G (p.Ser961=) c.*2835A>G (n.*2835A>G) c.2775A>G (p.Ser925=) c.2829A>G (p.Ser943=) c.1182A>G c.*2151A>G (n.*2151A>G) c.230+9451A>G c.2859A>G (p.Ser953=) c.2754A>G (p.Ser918=) c.2745A>G (p.Ser915=) c.2706A>G (p.Ser902=) c.2652A>G (p.Ser884=) c.2556A>G (p.Ser852=) c.2526A>G (p.Ser842=) c.2451A>G (p.Ser817=) c.2349A>G (p.Ser783=) c.1980A>G (p.Ser660=) | dbSNP |
| 5 | g.112838423A>T | CA445962928 | APC | c.2494A>T (n.2494A>T) c.2883A>T (p.Ser961=) c.*2835A>T (n.*2835A>T) c.2775A>T (p.Ser925=) c.2829A>T (p.Ser943=) c.1182A>T c.*2151A>T (n.*2151A>T) c.230+9451A>T c.2859A>T (p.Ser953=) c.2754A>T (p.Ser918=) c.2745A>T (p.Ser915=) c.2706A>T (p.Ser902=) c.2652A>T (p.Ser884=) c.2556A>T (p.Ser852=) c.2526A>T (p.Ser842=) c.2451A>T (p.Ser817=) c.2349A>T (p.Ser783=) c.1980A>T (p.Ser660=) | dbSNP |