| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.27963423G>A | CA8923148 | CDH2 | c.2448C>T (p.Ala816=) c.2193C>T (p.Ala731=) n.2413C>T c.1085C>T c.400C>T c.*763C>T (n.*763C>T) n.2179C>T c.2355C>T (p.Ala785=) c.2394C>T (p.Ala798=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.27963423G>C | CA8923149 | CDH2 | c.2448C>G (p.Ala816=) c.2193C>G (p.Ala731=) n.2413C>G c.1085C>G c.400C>G c.*763C>G (n.*763C>G) n.2179C>G c.2355C>G (p.Ala785=) c.2394C>G (p.Ala798=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.27963423G= | CA2292143236 | CDH2 | c.2448C= (p.Ala816=) c.2193C= (p.Ala731=) n.2413C= c.1085C= c.400C= c.*763C= (n.*763C=) n.2179C= c.2355C= (p.Ala785=) c.2394C= (p.Ala798=) | dbSNP |
| 18 | g.27963423G>T | CA503380782 | CDH2 | c.2448C>A (p.Ala816=) c.2193C>A (p.Ala731=) n.2413C>A c.1085C>A c.400C>A c.*763C>A (n.*763C>A) n.2179C>A c.2355C>A (p.Ala785=) c.2394C>A (p.Ala798=) | |
| 18 | g.27963424G>A | CA402103946 | CDH2 | c.2447C>T (p.Ala816Val) c.2192C>T (p.Ala731Val) n.2412C>T c.1084C>T c.399C>T c.*762C>T (n.*762C>T) n.2178C>T c.2354C>T (p.Ala785Val) c.2393C>T (p.Ala798Val) | |
| 18 | g.27963424G>C | CA402103948 | CDH2 | c.2447C>G (p.Ala816Gly) c.2192C>G (p.Ala731Gly) n.2412C>G c.1084C>G c.399C>G c.*762C>G (n.*762C>G) n.2178C>G c.2354C>G (p.Ala785Gly) c.2393C>G (p.Ala798Gly) | |
| 18 | g.27963424G>T | CA402103950 | CDH2 | c.2447C>A (p.Ala816Asp) c.2192C>A (p.Ala731Asp) n.2412C>A c.1084C>A c.399C>A c.*762C>A (n.*762C>A) n.2178C>A c.2354C>A (p.Ala785Asp) c.2393C>A (p.Ala798Asp) | |
| 18 | g.27963425C>A | CA402103953 | CDH2 | c.2446G>T (p.Ala816Ser) c.2191G>T (p.Ala731Ser) n.2411G>T c.1083G>T c.398G>T c.*761G>T (n.*761G>T) n.2177G>T c.2353G>T (p.Ala785Ser) c.2392G>T (p.Ala798Ser) | |
| 18 | g.27963425C= | CA2292143237 | CDH2 | c.2446G= (p.Ala816=) c.2191G= (p.Ala731=) n.2411G= c.1083G= c.398G= c.*761G= (n.*761G=) n.2177G= c.2353G= (p.Ala785=) c.2392G= (p.Ala798=) | dbSNP |
| 18 | g.27963425C>G | CA402103955 | CDH2 | c.2446G>C (p.Ala816Pro) c.2191G>C (p.Ala731Pro) n.2411G>C c.1083G>C c.398G>C c.*761G>C (n.*761G>C) n.2177G>C c.2353G>C (p.Ala785Pro) c.2392G>C (p.Ala798Pro) | |
| 18 | g.27963425C>T | CA8923150 | CDH2 | c.2446G>A (p.Ala816Thr) c.2191G>A (p.Ala731Thr) n.2411G>A c.1083G>A c.398G>A c.*761G>A (n.*761G>A) n.2177G>A c.2353G>A (p.Ala785Thr) c.2392G>A (p.Ala798Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.27963426G>A | CA8923151 | CDH2 | c.2445C>T (p.His815=) c.2190C>T (p.His730=) n.2410C>T c.1082C>T c.397C>T c.*760C>T (n.*760C>T) n.2176C>T c.2352C>T (p.His784=) c.2391C>T (p.His797=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.27963426G>C | CA402103961 | CDH2 | c.2445C>G (p.His815Gln) c.2190C>G (p.His730Gln) n.2410C>G c.1082C>G c.397C>G c.*760C>G (n.*760C>G) n.2176C>G c.2352C>G (p.His784Gln) c.2391C>G (p.His797Gln) | |
| 18 | g.27963426G= | CA2292143238 | CDH2 | c.2445C= (p.His815=) c.2190C= (p.His730=) n.2410C= c.1082C= c.397C= c.*760C= (n.*760C=) n.2176C= c.2352C= (p.His784=) c.2391C= (p.His797=) | dbSNP |
| 18 | g.27963426G>T | CA297662266 | CDH2 | c.2445C>A (p.His815Gln) c.2190C>A (p.His730Gln) n.2410C>A c.1082C>A c.397C>A c.*760C>A (n.*760C>A) n.2176C>A c.2352C>A (p.His784Gln) c.2391C>A (p.His797Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.27963427T>A | CA402103971 | CDH2 | c.2444A>T (p.His815Leu) c.2189A>T (p.His730Leu) n.2409A>T c.1081A>T c.396A>T c.*759A>T (n.*759A>T) n.2175A>T c.2351A>T (p.His784Leu) c.2390A>T (p.His797Leu) | |
| 18 | g.27963427T>C | CA402103967 | CDH2 | c.2444A>G (p.His815Arg) c.2189A>G (p.His730Arg) n.2409A>G c.1081A>G c.396A>G c.*759A>G (n.*759A>G) n.2175A>G c.2351A>G (p.His784Arg) c.2390A>G (p.His797Arg) | |
| 18 | g.27963427T>G | CA402103969 | CDH2 | c.2444A>C (p.His815Pro) c.2189A>C (p.His730Pro) n.2409A>C c.1081A>C c.396A>C c.*759A>C (n.*759A>C) n.2175A>C c.2351A>C (p.His784Pro) c.2390A>C (p.His797Pro) | |
| 18 | g.27963428G>A | CA402103975 | CDH2 | c.2443C>T (p.His815Tyr) c.2188C>T (p.His730Tyr) n.2408C>T c.1080C>T c.395C>T c.*758C>T (n.*758C>T) n.2174C>T c.2350C>T (p.His784Tyr) c.2389C>T (p.His797Tyr) | ClinVar dbSNP |
| 18 | g.27963428G>C | CA402103977 | CDH2 | c.2443C>G (p.His815Asp) c.2188C>G (p.His730Asp) n.2408C>G c.1080C>G c.395C>G c.*758C>G (n.*758C>G) n.2174C>G c.2350C>G (p.His784Asp) c.2389C>G (p.His797Asp) | |
| 18 | g.27963428G= | CA2292143239 | CDH2 | c.2443C= (p.His815=) c.2188C= (p.His730=) n.2408C= c.1080C= c.395C= c.*758C= (n.*758C=) n.2174C= c.2350C= (p.His784=) c.2389C= (p.His797=) | dbSNP |
| 18 | g.27963428G>T | CA402103979 | CDH2 | c.2443C>A (p.His815Asn) c.2188C>A (p.His730Asn) n.2408C>A c.1080C>A c.395C>A c.*758C>A (n.*758C>A) n.2174C>A c.2350C>A (p.His784Asn) c.2389C>A (p.His797Asn) | |
| 18 | g.27963429G>A | CA297662271 | CDH2 | c.2442C>T (p.Ile814=) c.2187C>T (p.Ile729=) n.2407C>T c.1079C>T c.394C>T c.*757C>T (n.*757C>T) n.2173C>T c.2349C>T (p.Ile783=) c.2388C>T (p.Ile796=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.27963429G>C | CA297662272 | CDH2 | c.2442C>G (p.Ile814Met) c.2187C>G (p.Ile729Met) n.2407C>G c.1079C>G c.394C>G c.*757C>G (n.*757C>G) n.2173C>G c.2349C>G (p.Ile783Met) c.2388C>G (p.Ile796Met) | ClinVar dbSNP gnomAD v4 |
| 18 | g.27963429G= | CA2292143240 | CDH2 | c.2442C= (p.Ile814=) c.2187C= (p.Ile729=) n.2407C= c.1079C= c.394C= c.*757C= (n.*757C=) n.2173C= c.2349C= (p.Ile783=) c.2388C= (p.Ile796=) | dbSNP |
| 18 | g.27963429G>T | CA503380785 | CDH2 | c.2442C>A (p.Ile814=) c.2187C>A (p.Ile729=) n.2407C>A c.1079C>A c.394C>A c.*757C>A (n.*757C>A) n.2173C>A c.2349C>A (p.Ile783=) c.2388C>A (p.Ile796=) | |
| 18 | g.27963430A= | CA2292143241 | CDH2 | c.2441T= (p.Ile814=) c.2186T= (p.Ile729=) n.2406T= c.1078T= c.393T= c.*756T= (n.*756T=) n.2172T= c.2348T= (p.Ile783=) c.2387T= (p.Ile796=) | dbSNP |
| 18 | g.27963430A>C | CA402103987 | CDH2 | c.2441T>G (p.Ile814Ser) c.2186T>G (p.Ile729Ser) n.2406T>G c.1078T>G c.393T>G c.*756T>G (n.*756T>G) n.2172T>G c.2348T>G (p.Ile783Ser) c.2387T>G (p.Ile796Ser) | |
| 18 | g.27963430A>G | CA402103990 | CDH2 | c.2441T>C (p.Ile814Thr) c.2186T>C (p.Ile729Thr) n.2406T>C c.1078T>C c.393T>C c.*756T>C (n.*756T>C) n.2172T>C c.2348T>C (p.Ile783Thr) c.2387T>C (p.Ile796Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.27963430A>T | CA402103992 | CDH2 | c.2441T>A (p.Ile814Asn) c.2186T>A (p.Ile729Asn) n.2406T>A c.1078T>A c.393T>A c.*756T>A (n.*756T>A) n.2172T>A c.2348T>A (p.Ile783Asn) c.2387T>A (p.Ile796Asn) | |
| 18 | g.27963431T>A | CA402103995 | CDH2 | c.2440A>T (p.Ile814Phe) c.2185A>T (p.Ile729Phe) n.2405A>T c.1077A>T c.392A>T c.*755A>T (n.*755A>T) n.2171A>T c.2347A>T (p.Ile783Phe) c.2386A>T (p.Ile796Phe) | |
| 18 | g.27963431T>C | CA8923152 | CDH2 | c.2440A>G (p.Ile814Val) c.2185A>G (p.Ile729Val) n.2405A>G c.1077A>G c.392A>G c.*755A>G (n.*755A>G) n.2171A>G c.2347A>G (p.Ile783Val) c.2386A>G (p.Ile796Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.27963431T>G | CA402103998 | CDH2 | c.2440A>C (p.Ile814Leu) c.2185A>C (p.Ile729Leu) n.2405A>C c.1077A>C c.392A>C c.*755A>C (n.*755A>C) n.2171A>C c.2347A>C (p.Ile783Leu) c.2386A>C (p.Ile796Leu) | |
| 18 | g.27963431T= | CA2292143242 | CDH2 | c.2440A= (p.Ile814=) c.2185A= (p.Ile729=) n.2405A= c.1077A= c.392A= c.*755A= (n.*755A=) n.2171A= c.2347A= (p.Ile783=) c.2386A= (p.Ile796=) | dbSNP |
| 18 | g.27963432G>A | CA503380786 | CDH2 | c.2439C>T (p.Pro813=) c.2184C>T (p.Pro728=) n.2404C>T c.1076C>T c.391C>T c.*754C>T (n.*754C>T) n.2170C>T c.2346C>T (p.Pro782=) c.2385C>T (p.Pro795=) | |
| 18 | g.27963432G>C | CA503380787 | CDH2 | c.2439C>G (p.Pro813=) c.2184C>G (p.Pro728=) n.2404C>G c.1076C>G c.391C>G c.*754C>G (n.*754C>G) n.2170C>G c.2346C>G (p.Pro782=) c.2385C>G (p.Pro795=) | ClinVar dbSNP |
| 18 | g.27963432G= | CA3231777522 | CDH2 | c.2439C= (p.Pro813=) c.2184C= (p.Pro728=) n.2404C= c.1076C= c.391C= c.*754C= (n.*754C=) n.2170C= c.2346C= (p.Pro782=) c.2385C= (p.Pro795=) | dbSNP |
| 18 | g.27963432G>T | CA503380788 | CDH2 | c.2439C>A (p.Pro813=) c.2184C>A (p.Pro728=) n.2404C>A c.1076C>A c.391C>A c.*754C>A (n.*754C>A) n.2170C>A c.2346C>A (p.Pro782=) c.2385C>A (p.Pro795=) | |
| 18 | g.27963433G>A | CA402104003 | CDH2 | c.2438C>T (p.Pro813Leu) c.2183C>T (p.Pro728Leu) n.2403C>T c.1075C>T c.390C>T c.*753C>T (n.*753C>T) n.2169C>T c.2345C>T (p.Pro782Leu) c.2384C>T (p.Pro795Leu) | |
| 18 | g.27963433G>C | CA402104002 | CDH2 | c.2438C>G (p.Pro813Arg) c.2183C>G (p.Pro728Arg) n.2403C>G c.1075C>G c.390C>G c.*753C>G (n.*753C>G) n.2169C>G c.2345C>G (p.Pro782Arg) c.2384C>G (p.Pro795Arg) | |
| 18 | g.27963433G>T | CA402104000 | CDH2 | c.2438C>A (p.Pro813His) c.2183C>A (p.Pro728His) n.2403C>A c.1075C>A c.390C>A c.*753C>A (n.*753C>A) n.2169C>A c.2345C>A (p.Pro782His) c.2384C>A (p.Pro795His) | |
| 18 | g.27963434G>A | CA402104006 | CDH2 | c.2437C>T (p.Pro813Ser) c.2182C>T (p.Pro728Ser) n.2402C>T c.1074C>T c.389C>T c.*752C>T (n.*752C>T) n.2168C>T c.2344C>T (p.Pro782Ser) c.2383C>T (p.Pro795Ser) | |
| 18 | g.27963434G>C | CA402104008 | CDH2 | c.2437C>G (p.Pro813Ala) c.2182C>G (p.Pro728Ala) n.2402C>G c.1074C>G c.389C>G c.*752C>G (n.*752C>G) n.2168C>G c.2344C>G (p.Pro782Ala) c.2383C>G (p.Pro795Ala) | |
| 18 | g.27963434G>T | CA402104010 | CDH2 | c.2437C>A (p.Pro813Thr) c.2182C>A (p.Pro728Thr) n.2402C>A c.1074C>A c.389C>A c.*752C>A (n.*752C>A) n.2168C>A c.2344C>A (p.Pro782Thr) c.2383C>A (p.Pro795Thr) | |
| 18 | g.27963435T>A | CA402104013 | CDH2 | c.2436A>T (p.Arg812Ser) c.2181A>T (p.Arg727Ser) n.2401A>T c.1073A>T c.388A>T c.*751A>T (n.*751A>T) n.2167A>T c.2343A>T (p.Arg781Ser) c.2382A>T (p.Arg794Ser) | |
| 18 | g.27963435T>C | CA503380789 | CDH2 | c.2436A>G (p.Arg812=) c.2181A>G (p.Arg727=) n.2401A>G c.1073A>G c.388A>G c.*751A>G (n.*751A>G) n.2167A>G c.2343A>G (p.Arg781=) c.2382A>G (p.Arg794=) | |
| 18 | g.27963435T>G | CA402104015 | CDH2 | c.2436A>C (p.Arg812Ser) c.2181A>C (p.Arg727Ser) n.2401A>C c.1073A>C c.388A>C c.*751A>C (n.*751A>C) n.2167A>C c.2343A>C (p.Arg781Ser) c.2382A>C (p.Arg794Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.27963435T= | CA2292143243 | CDH2 | c.2436A= (p.Arg812=) c.2181A= (p.Arg727=) n.2401A= c.1073A= c.388A= c.*751A= (n.*751A=) n.2167A= c.2343A= (p.Arg781=) c.2382A= (p.Arg794=) | dbSNP |
| 18 | g.27963436C>A | CA402104018 | CDH2 | c.2435G>T (p.Arg812Ile) c.2180G>T (p.Arg727Ile) n.2400G>T c.1072G>T c.387G>T c.*750G>T (n.*750G>T) n.2166G>T c.2342G>T (p.Arg781Ile) c.2381G>T (p.Arg794Ile) | ClinVar dbSNP |
| 18 | g.27963436C= | CA3231777578 | CDH2 | c.2435G= (p.Arg812=) c.2180G= (p.Arg727=) n.2400G= c.1072G= c.387G= c.*750G= (n.*750G=) n.2166G= c.2342G= (p.Arg781=) c.2381G= (p.Arg794=) | dbSNP |