| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.43048202G>A | CA3813985 | CUL7,KLC4 | c.2115C>T (p.His705=) n.2398C>T c.2211C>T (p.His737=) n.2414C>T c.64C>T n.2449C>T c.607C>T c.-553+4694G>A (n.-553+4694G>A) c.2367C>T (p.His789=) c.2271C>T (p.His757=) c.-68C>T (n.-68C>T) c.2394C>T (p.His798=) c.2298C>T (p.His766=) c.2238C>T (p.His746=) c.2142C>T (p.His714=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.43048202G>C | CA364218411 | CUL7,KLC4 | c.2115C>G (p.His705Gln) n.2398C>G c.2211C>G (p.His737Gln) n.2414C>G c.64C>G n.2449C>G c.607C>G c.-553+4694G>C (n.-553+4694G>C) c.2367C>G (p.His789Gln) c.2271C>G (p.His757Gln) c.-68C>G (n.-68C>G) c.2394C>G (p.His798Gln) c.2298C>G (p.His766Gln) c.2238C>G (p.His746Gln) c.2142C>G (p.His714Gln) | |
| 6 | g.43048202G= | CA1624357251 | CUL7,KLC4 | c.2115C= (p.His705=) n.2398C= c.2211C= (p.His737=) n.2414C= c.64C= n.2449C= c.607C= c.-553+4694G= (n.-553+4694G=) c.2367C= (p.His789=) c.2271C= (p.His757=) c.-68C= (n.-68C=) c.2394C= (p.His798=) c.2298C= (p.His766=) c.2238C= (p.His746=) c.2142C= (p.His714=) | |
| 6 | g.43048202G>T | CA364218414 | CUL7,KLC4 | c.2115C>A (p.His705Gln) n.2398C>A c.2211C>A (p.His737Gln) n.2414C>A c.64C>A n.2449C>A c.607C>A c.-553+4694G>T (n.-553+4694G>T) c.2367C>A (p.His789Gln) c.2271C>A (p.His757Gln) c.-68C>A (n.-68C>A) c.2394C>A (p.His798Gln) c.2298C>A (p.His766Gln) c.2238C>A (p.His746Gln) c.2142C>A (p.His714Gln) | gnomAD v4 |
| 6 | g.43048203T>A | CA364218416 | CUL7,KLC4 | c.2114A>T (p.His705Leu) n.2397A>T c.2210A>T (p.His737Leu) n.2413A>T c.63A>T n.2448A>T c.606A>T c.-553+4695T>A (n.-553+4695T>A) c.2366A>T (p.His789Leu) c.2270A>T (p.His757Leu) c.-69A>T (n.-69A>T) c.2393A>T (p.His798Leu) c.2297A>T (p.His766Leu) c.2237A>T (p.His746Leu) c.2141A>T (p.His714Leu) | |
| 6 | g.43048203T>C | CA364218421 | CUL7,KLC4 | c.2114A>G (p.His705Arg) n.2397A>G c.2210A>G (p.His737Arg) n.2413A>G c.63A>G n.2448A>G c.606A>G c.-553+4695T>C (n.-553+4695T>C) c.2366A>G (p.His789Arg) c.2270A>G (p.His757Arg) c.-69A>G (n.-69A>G) c.2393A>G (p.His798Arg) c.2297A>G (p.His766Arg) c.2237A>G (p.His746Arg) c.2141A>G (p.His714Arg) | gnomAD v4 |
| 6 | g.43048203T>G | CA364218418 | CUL7,KLC4 | c.2114A>C (p.His705Pro) n.2397A>C c.2210A>C (p.His737Pro) n.2413A>C c.63A>C n.2448A>C c.606A>C c.-553+4695T>G (n.-553+4695T>G) c.2366A>C (p.His789Pro) c.2270A>C (p.His757Pro) c.-69A>C (n.-69A>C) c.2393A>C (p.His798Pro) c.2297A>C (p.His766Pro) c.2237A>C (p.His746Pro) c.2141A>C (p.His714Pro) | |
| 6 | g.43048204G>A | CA364218423 | CUL7,KLC4 | c.2113C>T (p.His705Tyr) n.2396C>T c.2209C>T (p.His737Tyr) n.2412C>T c.62C>T n.2447C>T c.605C>T c.-553+4696G>A (n.-553+4696G>A) c.2365C>T (p.His789Tyr) c.2269C>T (p.His757Tyr) c.-70C>T (n.-70C>T) c.2392C>T (p.His798Tyr) c.2296C>T (p.His766Tyr) c.2236C>T (p.His746Tyr) c.2140C>T (p.His714Tyr) | dbSNP |
| 6 | g.43048204G>C | CA364218425 | CUL7,KLC4 | c.2113C>G (p.His705Asp) n.2396C>G c.2209C>G (p.His737Asp) n.2412C>G c.62C>G n.2447C>G c.605C>G c.-553+4696G>C (n.-553+4696G>C) c.2365C>G (p.His789Asp) c.2269C>G (p.His757Asp) c.-70C>G (n.-70C>G) c.2392C>G (p.His798Asp) c.2296C>G (p.His766Asp) c.2236C>G (p.His746Asp) c.2140C>G (p.His714Asp) | |
| 6 | g.43048204G= | CA1624357252 | CUL7,KLC4 | c.2113C= (p.His705=) n.2396C= c.2209C= (p.His737=) n.2412C= c.62C= n.2447C= c.605C= c.-553+4696G= (n.-553+4696G=) c.2365C= (p.His789=) c.2269C= (p.His757=) c.-70C= (n.-70C=) c.2392C= (p.His798=) c.2296C= (p.His766=) c.2236C= (p.His746=) c.2140C= (p.His714=) | |
| 6 | g.43048204G>T | CA364218426 | CUL7,KLC4 | c.2113C>A (p.His705Asn) n.2396C>A c.2209C>A (p.His737Asn) n.2412C>A c.62C>A n.2447C>A c.605C>A c.-553+4696G>T (n.-553+4696G>T) c.2365C>A (p.His789Asn) c.2269C>A (p.His757Asn) c.-70C>A (n.-70C>A) c.2392C>A (p.His798Asn) c.2296C>A (p.His766Asn) c.2236C>A (p.His746Asn) c.2140C>A (p.His714Asn) | gnomAD v4 |
| 6 | g.43048205C>A | CA364218429 | CUL7,KLC4 | c.2112G>T (p.Trp704Cys) n.2395G>T c.2208G>T (p.Trp736Cys) n.2411G>T c.61G>T n.2446G>T c.604G>T c.-553+4697C>A (n.-553+4697C>A) c.2364G>T (p.Trp788Cys) c.2268G>T (p.Trp756Cys) c.-71G>T (n.-71G>T) c.2391G>T (p.Trp797Cys) c.2295G>T (p.Trp765Cys) c.2235G>T (p.Trp745Cys) c.2139G>T (p.Trp713Cys) | |
| 6 | g.43048205C= | CA1624357253 | CUL7,KLC4 | c.2112G= (p.Trp704=) n.2395G= c.2208G= (p.Trp736=) n.2411G= c.61G= n.2446G= c.604G= c.-553+4697C= (n.-553+4697C=) c.2364G= (p.Trp788=) c.2268G= (p.Trp756=) c.-71G= (n.-71G=) c.2391G= (p.Trp797=) c.2295G= (p.Trp765=) c.2235G= (p.Trp745=) c.2139G= (p.Trp713=) | |
| 6 | g.43048205C>G | CA364218432 | CUL7,KLC4 | c.2112G>C (p.Trp704Cys) n.2395G>C c.2208G>C (p.Trp736Cys) n.2411G>C c.61G>C n.2446G>C c.604G>C c.-553+4697C>G (n.-553+4697C>G) c.2364G>C (p.Trp788Cys) c.2268G>C (p.Trp756Cys) c.-71G>C (n.-71G>C) c.2391G>C (p.Trp797Cys) c.2295G>C (p.Trp765Cys) c.2235G>C (p.Trp745Cys) c.2139G>C (p.Trp713Cys) | |
| 6 | g.43048205C>T | CA364218434 | CUL7,KLC4 | c.2112G>A (p.Trp704Ter) n.2395G>A c.2208G>A (p.Trp736Ter) n.2411G>A c.61G>A n.2446G>A c.604G>A c.-553+4697C>T (n.-553+4697C>T) c.2364G>A (p.Trp788Ter) c.2268G>A (p.Trp756Ter) c.-71G>A (n.-71G>A) c.2391G>A (p.Trp797Ter) c.2295G>A (p.Trp765Ter) c.2235G>A (p.Trp745Ter) c.2139G>A (p.Trp713Ter) | ClinVar dbSNP |
| 6 | g.43048206C>A | CA364218437 | CUL7,KLC4 | c.2111G>T (p.Trp704Leu) n.2394G>T c.2207G>T (p.Trp736Leu) n.2410G>T c.60G>T n.2445G>T c.603G>T c.-553+4698C>A (n.-553+4698C>A) c.2363G>T (p.Trp788Leu) c.2267G>T (p.Trp756Leu) c.-72G>T (n.-72G>T) c.2390G>T (p.Trp797Leu) c.2294G>T (p.Trp765Leu) c.2234G>T (p.Trp745Leu) c.2138G>T (p.Trp713Leu) | |
| 6 | g.43048206C= | CA1624357254 | CUL7,KLC4 | c.2111G= (p.Trp704=) n.2394G= c.2207G= (p.Trp736=) n.2410G= c.60G= n.2445G= c.603G= c.-553+4698C= (n.-553+4698C=) c.2363G= (p.Trp788=) c.2267G= (p.Trp756=) c.-72G= (n.-72G=) c.2390G= (p.Trp797=) c.2294G= (p.Trp765=) c.2234G= (p.Trp745=) c.2138G= (p.Trp713=) | |
| 6 | g.43048206C>G | CA364218438 | CUL7,KLC4 | c.2111G>C (p.Trp704Ser) n.2394G>C c.2207G>C (p.Trp736Ser) n.2410G>C c.60G>C n.2445G>C c.603G>C c.-553+4698C>G (n.-553+4698C>G) c.2363G>C (p.Trp788Ser) c.2267G>C (p.Trp756Ser) c.-72G>C (n.-72G>C) c.2390G>C (p.Trp797Ser) c.2294G>C (p.Trp765Ser) c.2234G>C (p.Trp745Ser) c.2138G>C (p.Trp713Ser) | |
| 6 | g.43048206C>T | CA364218440 | CUL7,KLC4 | c.2111G>A (p.Trp704Ter) n.2394G>A c.2207G>A (p.Trp736Ter) n.2410G>A c.60G>A n.2445G>A c.603G>A c.-553+4698C>T (n.-553+4698C>T) c.2363G>A (p.Trp788Ter) c.2267G>A (p.Trp756Ter) c.-72G>A (n.-72G>A) c.2390G>A (p.Trp797Ter) c.2294G>A (p.Trp765Ter) c.2234G>A (p.Trp745Ter) c.2138G>A (p.Trp713Ter) | dbSNP gnomAD v4 |
| 6 | g.43048207A>C | CA364218442 | CUL7,KLC4 | c.2110T>G (p.Trp704Gly) n.2393T>G c.2206T>G (p.Trp736Gly) n.2409T>G c.59T>G n.2444T>G c.602T>G c.-553+4699A>C (n.-553+4699A>C) c.2362T>G (p.Trp788Gly) c.2266T>G (p.Trp756Gly) c.-73T>G (n.-73T>G) c.2389T>G (p.Trp797Gly) c.2293T>G (p.Trp765Gly) c.2233T>G (p.Trp745Gly) c.2137T>G (p.Trp713Gly) | |
| 6 | g.43048207A>G | CA364218445 | CUL7,KLC4 | c.2110T>C (p.Trp704Arg) n.2393T>C c.2206T>C (p.Trp736Arg) n.2409T>C c.59T>C n.2444T>C c.602T>C c.-553+4699A>G (n.-553+4699A>G) c.2362T>C (p.Trp788Arg) c.2266T>C (p.Trp756Arg) c.-73T>C (n.-73T>C) c.2389T>C (p.Trp797Arg) c.2293T>C (p.Trp765Arg) c.2233T>C (p.Trp745Arg) c.2137T>C (p.Trp713Arg) | |
| 6 | g.43048207A>T | CA364218446 | CUL7,KLC4 | c.2110T>A (p.Trp704Arg) n.2393T>A c.2206T>A (p.Trp736Arg) n.2409T>A c.59T>A n.2444T>A c.602T>A c.-553+4699A>T (n.-553+4699A>T) c.2362T>A (p.Trp788Arg) c.2266T>A (p.Trp756Arg) c.-73T>A (n.-73T>A) c.2389T>A (p.Trp797Arg) c.2293T>A (p.Trp765Arg) c.2233T>A (p.Trp745Arg) c.2137T>A (p.Trp713Arg) | |
| 6 | g.43048208G>A | CA450261563 | CUL7,KLC4 | c.2109C>T (p.Pro703=) n.2392C>T c.2205C>T (p.Pro735=) n.2408C>T c.58C>T n.2443C>T c.601C>T c.-553+4700G>A (n.-553+4700G>A) c.2361C>T (p.Pro787=) c.2265C>T (p.Pro755=) c.-74C>T (n.-74C>T) c.2388C>T (p.Pro796=) c.2292C>T (p.Pro764=) c.2232C>T (p.Pro744=) c.2136C>T (p.Pro712=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.43048208G>C | CA450261569 | CUL7,KLC4 | c.2109C>G (p.Pro703=) n.2392C>G c.2205C>G (p.Pro735=) n.2408C>G c.58C>G n.2443C>G c.601C>G c.-553+4700G>C (n.-553+4700G>C) c.2361C>G (p.Pro787=) c.2265C>G (p.Pro755=) c.-74C>G (n.-74C>G) c.2388C>G (p.Pro796=) c.2292C>G (p.Pro764=) c.2232C>G (p.Pro744=) c.2136C>G (p.Pro712=) | |
| 6 | g.43048208G= | CA1624357255 | CUL7,KLC4 | c.2109C= (p.Pro703=) n.2392C= c.2205C= (p.Pro735=) n.2408C= c.58C= n.2443C= c.601C= c.-553+4700G= (n.-553+4700G=) c.2361C= (p.Pro787=) c.2265C= (p.Pro755=) c.-74C= (n.-74C=) c.2388C= (p.Pro796=) c.2292C= (p.Pro764=) c.2232C= (p.Pro744=) c.2136C= (p.Pro712=) | |
| 6 | g.43048208G>T | CA450261564 | CUL7,KLC4 | c.2109C>A (p.Pro703=) n.2392C>A c.2205C>A (p.Pro735=) n.2408C>A c.58C>A n.2443C>A c.601C>A c.-553+4700G>T (n.-553+4700G>T) c.2361C>A (p.Pro787=) c.2265C>A (p.Pro755=) c.-74C>A (n.-74C>A) c.2388C>A (p.Pro796=) c.2292C>A (p.Pro764=) c.2232C>A (p.Pro744=) c.2136C>A (p.Pro712=) | |
| 6 | g.43048209G>A | CA364218451 | CUL7,KLC4 | c.2108C>T (p.Pro703Leu) n.2391C>T c.2204C>T (p.Pro735Leu) n.2407C>T c.57C>T n.2442C>T c.600C>T c.-553+4701G>A (n.-553+4701G>A) c.2360C>T (p.Pro787Leu) c.2264C>T (p.Pro755Leu) c.-75C>T (n.-75C>T) c.2387C>T (p.Pro796Leu) c.2291C>T (p.Pro764Leu) c.2231C>T (p.Pro744Leu) c.2135C>T (p.Pro712Leu) | |
| 6 | g.43048209G>C | CA364218456 | CUL7,KLC4 | c.2108C>G (p.Pro703Arg) n.2391C>G c.2204C>G (p.Pro735Arg) n.2407C>G c.57C>G n.2442C>G c.600C>G c.-553+4701G>C (n.-553+4701G>C) c.2360C>G (p.Pro787Arg) c.2264C>G (p.Pro755Arg) c.-75C>G (n.-75C>G) c.2387C>G (p.Pro796Arg) c.2291C>G (p.Pro764Arg) c.2231C>G (p.Pro744Arg) c.2135C>G (p.Pro712Arg) | |
| 6 | g.43048209G>T | CA364218453 | CUL7,KLC4 | c.2108C>A (p.Pro703His) n.2391C>A c.2204C>A (p.Pro735His) n.2407C>A c.57C>A n.2442C>A c.600C>A c.-553+4701G>T (n.-553+4701G>T) c.2360C>A (p.Pro787His) c.2264C>A (p.Pro755His) c.-75C>A (n.-75C>A) c.2387C>A (p.Pro796His) c.2291C>A (p.Pro764His) c.2231C>A (p.Pro744His) c.2135C>A (p.Pro712His) | |
| 6 | g.43048210G>A | CA364218459 | CUL7,KLC4 | c.2107C>T (p.Pro703Ser) n.2390C>T c.2203C>T (p.Pro735Ser) n.2406C>T c.56C>T n.2441C>T c.599C>T c.-553+4702G>A (n.-553+4702G>A) c.2359C>T (p.Pro787Ser) c.2263C>T (p.Pro755Ser) c.-76C>T (n.-76C>T) c.2386C>T (p.Pro796Ser) c.2290C>T (p.Pro764Ser) c.2230C>T (p.Pro744Ser) c.2134C>T (p.Pro712Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.43048210G>C | CA364218461 | CUL7,KLC4 | c.2107C>G (p.Pro703Ala) n.2390C>G c.2203C>G (p.Pro735Ala) n.2406C>G c.56C>G n.2441C>G c.599C>G c.-553+4702G>C (n.-553+4702G>C) c.2359C>G (p.Pro787Ala) c.2263C>G (p.Pro755Ala) c.-76C>G (n.-76C>G) c.2386C>G (p.Pro796Ala) c.2290C>G (p.Pro764Ala) c.2230C>G (p.Pro744Ala) c.2134C>G (p.Pro712Ala) | |
| 6 | g.43048210G= | CA1624357256 | CUL7,KLC4 | c.2107C= (p.Pro703=) n.2390C= c.2203C= (p.Pro735=) n.2406C= c.56C= n.2441C= c.599C= c.-553+4702G= (n.-553+4702G=) c.2359C= (p.Pro787=) c.2263C= (p.Pro755=) c.-76C= (n.-76C=) c.2386C= (p.Pro796=) c.2290C= (p.Pro764=) c.2230C= (p.Pro744=) c.2134C= (p.Pro712=) | |
| 6 | g.43048210G>T | CA364218464 | CUL7,KLC4 | c.2107C>A (p.Pro703Thr) n.2390C>A c.2203C>A (p.Pro735Thr) n.2406C>A c.56C>A n.2441C>A c.599C>A c.-553+4702G>T (n.-553+4702G>T) c.2359C>A (p.Pro787Thr) c.2263C>A (p.Pro755Thr) c.-76C>A (n.-76C>A) c.2386C>A (p.Pro796Thr) c.2290C>A (p.Pro764Thr) c.2230C>A (p.Pro744Thr) c.2134C>A (p.Pro712Thr) | |
| 6 | g.43048211G>A | CA450261574 | CUL7,KLC4 | c.2106C>T (p.Leu702=) n.2389C>T c.2202C>T (p.Leu734=) n.2405C>T c.55C>T n.2440C>T c.598C>T c.-553+4703G>A (n.-553+4703G>A) c.2358C>T (p.Leu786=) c.2262C>T (p.Leu754=) c.-77C>T (n.-77C>T) c.2385C>T (p.Leu795=) c.2289C>T (p.Leu763=) c.2229C>T (p.Leu743=) c.2133C>T (p.Leu711=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.43048211G>C | CA450261575 | CUL7,KLC4 | c.2106C>G (p.Leu702=) n.2389C>G c.2202C>G (p.Leu734=) n.2405C>G c.55C>G n.2440C>G c.598C>G c.-553+4703G>C (n.-553+4703G>C) c.2358C>G (p.Leu786=) c.2262C>G (p.Leu754=) c.-77C>G (n.-77C>G) c.2385C>G (p.Leu795=) c.2289C>G (p.Leu763=) c.2229C>G (p.Leu743=) c.2133C>G (p.Leu711=) | |
| 6 | g.43048211G= | CA1624357257 | CUL7,KLC4 | c.2106C= (p.Leu702=) n.2389C= c.2202C= (p.Leu734=) n.2405C= c.55C= n.2440C= c.598C= c.-553+4703G= (n.-553+4703G=) c.2358C= (p.Leu786=) c.2262C= (p.Leu754=) c.-77C= (n.-77C=) c.2385C= (p.Leu795=) c.2289C= (p.Leu763=) c.2229C= (p.Leu743=) c.2133C= (p.Leu711=) | |
| 6 | g.43048211G>T | CA450261576 | CUL7,KLC4 | c.2106C>A (p.Leu702=) n.2389C>A c.2202C>A (p.Leu734=) n.2405C>A c.55C>A n.2440C>A c.598C>A c.-553+4703G>T (n.-553+4703G>T) c.2358C>A (p.Leu786=) c.2262C>A (p.Leu754=) c.-77C>A (n.-77C>A) c.2385C>A (p.Leu795=) c.2289C>A (p.Leu763=) c.2229C>A (p.Leu743=) c.2133C>A (p.Leu711=) | |
| 6 | g.43048212A>C | CA364218467 | CUL7,KLC4 | c.2105T>G (p.Leu702Arg) n.2388T>G c.2201T>G (p.Leu734Arg) n.2404T>G c.54T>G n.2439T>G c.597T>G c.-553+4704A>C (n.-553+4704A>C) c.2357T>G (p.Leu786Arg) c.2261T>G (p.Leu754Arg) c.-78T>G (n.-78T>G) c.2384T>G (p.Leu795Arg) c.2288T>G (p.Leu763Arg) c.2228T>G (p.Leu743Arg) c.2132T>G (p.Leu711Arg) | gnomAD v4 |
| 6 | g.43048212A>G | CA364218468 | CUL7,KLC4 | c.2105T>C (p.Leu702Pro) n.2388T>C c.2201T>C (p.Leu734Pro) n.2404T>C c.54T>C n.2439T>C c.597T>C c.-553+4704A>G (n.-553+4704A>G) c.2357T>C (p.Leu786Pro) c.2261T>C (p.Leu754Pro) c.-78T>C (n.-78T>C) c.2384T>C (p.Leu795Pro) c.2288T>C (p.Leu763Pro) c.2228T>C (p.Leu743Pro) c.2132T>C (p.Leu711Pro) | |
| 6 | g.43048212A>T | CA364218471 | CUL7,KLC4 | c.2105T>A (p.Leu702His) n.2388T>A c.2201T>A (p.Leu734His) n.2404T>A c.54T>A n.2439T>A c.597T>A c.-553+4704A>T (n.-553+4704A>T) c.2357T>A (p.Leu786His) c.2261T>A (p.Leu754His) c.-78T>A (n.-78T>A) c.2384T>A (p.Leu795His) c.2288T>A (p.Leu763His) c.2228T>A (p.Leu743His) c.2132T>A (p.Leu711His) | |
| 6 | g.43048213G>A | CA364218475 | CUL7,KLC4 | c.2104C>T (p.Leu702Phe) n.2387C>T c.2200C>T (p.Leu734Phe) n.2403C>T c.53C>T n.2438C>T c.596C>T c.-553+4705G>A (n.-553+4705G>A) c.2356C>T (p.Leu786Phe) c.2260C>T (p.Leu754Phe) c.-79C>T (n.-79C>T) c.2383C>T (p.Leu795Phe) c.2287C>T (p.Leu763Phe) c.2227C>T (p.Leu743Phe) c.2131C>T (p.Leu711Phe) | |
| 6 | g.43048213G>C | CA364218477 | CUL7,KLC4 | c.2104C>G (p.Leu702Val) n.2387C>G c.2200C>G (p.Leu734Val) n.2403C>G c.53C>G n.2438C>G c.596C>G c.-553+4705G>C (n.-553+4705G>C) c.2356C>G (p.Leu786Val) c.2260C>G (p.Leu754Val) c.-79C>G (n.-79C>G) c.2383C>G (p.Leu795Val) c.2287C>G (p.Leu763Val) c.2227C>G (p.Leu743Val) c.2131C>G (p.Leu711Val) | |
| 6 | g.43048213G>T | CA364218481 | CUL7,KLC4 | c.2104C>A (p.Leu702Ile) n.2387C>A c.2200C>A (p.Leu734Ile) n.2403C>A c.53C>A n.2438C>A c.596C>A c.-553+4705G>T (n.-553+4705G>T) c.2356C>A (p.Leu786Ile) c.2260C>A (p.Leu754Ile) c.-79C>A (n.-79C>A) c.2383C>A (p.Leu795Ile) c.2287C>A (p.Leu763Ile) c.2227C>A (p.Leu743Ile) c.2131C>A (p.Leu711Ile) | |
| 6 | g.43048214C>A | CA450261581 | CUL7,KLC4 | c.2103G>T (p.Leu701=) n.2386G>T c.2199G>T (p.Leu733=) n.2402G>T c.52G>T n.2437G>T c.595G>T c.-553+4706C>A (n.-553+4706C>A) c.2355G>T (p.Leu785=) c.2259G>T (p.Leu753=) c.-80G>T (n.-80G>T) c.2382G>T (p.Leu794=) c.2286G>T (p.Leu762=) c.2226G>T (p.Leu742=) c.2130G>T (p.Leu710=) | |
| 6 | g.43048214C= | CA1624357258 | CUL7,KLC4 | c.2103G= (p.Leu701=) n.2386G= c.2199G= (p.Leu733=) n.2402G= c.52G= n.2437G= c.595G= c.-553+4706C= (n.-553+4706C=) c.2355G= (p.Leu785=) c.2259G= (p.Leu753=) c.-80G= (n.-80G=) c.2382G= (p.Leu794=) c.2286G= (p.Leu762=) c.2226G= (p.Leu742=) c.2130G= (p.Leu710=) | |
| 6 | g.43048214C>G | CA450261582 | CUL7,KLC4 | c.2103G>C (p.Leu701=) n.2386G>C c.2199G>C (p.Leu733=) n.2402G>C c.52G>C n.2437G>C c.595G>C c.-553+4706C>G (n.-553+4706C>G) c.2355G>C (p.Leu785=) c.2259G>C (p.Leu753=) c.-80G>C (n.-80G>C) c.2382G>C (p.Leu794=) c.2286G>C (p.Leu762=) c.2226G>C (p.Leu742=) c.2130G>C (p.Leu710=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.43048214C>T | CA450261583 | CUL7,KLC4 | c.2103G>A (p.Leu701=) n.2386G>A c.2199G>A (p.Leu733=) n.2402G>A c.52G>A n.2437G>A c.595G>A c.-553+4706C>T (n.-553+4706C>T) c.2355G>A (p.Leu785=) c.2259G>A (p.Leu753=) c.-80G>A (n.-80G>A) c.2382G>A (p.Leu794=) c.2286G>A (p.Leu762=) c.2226G>A (p.Leu742=) c.2130G>A (p.Leu710=) | dbSNP |
| 6 | g.43048215A>C | CA364218484 | CUL7,KLC4 | c.2102T>G (p.Leu701Arg) n.2385T>G c.2198T>G (p.Leu733Arg) n.2401T>G c.51T>G n.2436T>G c.594T>G c.-553+4707A>C (n.-553+4707A>C) c.2354T>G (p.Leu785Arg) c.2258T>G (p.Leu753Arg) c.-81T>G (n.-81T>G) c.2381T>G (p.Leu794Arg) c.2285T>G (p.Leu762Arg) c.2225T>G (p.Leu742Arg) c.2129T>G (p.Leu710Arg) | |
| 6 | g.43048215A>G | CA364218485 | CUL7,KLC4 | c.2102T>C (p.Leu701Pro) n.2385T>C c.2198T>C (p.Leu733Pro) n.2401T>C c.51T>C n.2436T>C c.594T>C c.-553+4707A>G (n.-553+4707A>G) c.2354T>C (p.Leu785Pro) c.2258T>C (p.Leu753Pro) c.-81T>C (n.-81T>C) c.2381T>C (p.Leu794Pro) c.2285T>C (p.Leu762Pro) c.2225T>C (p.Leu742Pro) c.2129T>C (p.Leu710Pro) | |
| 6 | g.43048215A>T | CA364218487 | CUL7,KLC4 | c.2102T>A (p.Leu701Gln) n.2385T>A c.2198T>A (p.Leu733Gln) n.2401T>A c.51T>A n.2436T>A c.594T>A c.-553+4707A>T (n.-553+4707A>T) c.2354T>A (p.Leu785Gln) c.2258T>A (p.Leu753Gln) c.-81T>A (n.-81T>A) c.2381T>A (p.Leu794Gln) c.2285T>A (p.Leu762Gln) c.2225T>A (p.Leu742Gln) c.2129T>A (p.Leu710Gln) |