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 |
|---|---|---|---|---|---|
| 6 | g.43048350A>C | CA364218841 | CUL7,KLC4 | c.2045T>G (p.Leu682Arg) n.2328T>G c.2141T>G (p.Leu714Arg) n.2344T>G n.2379T>G c.537T>G c.-553+4842A>C (n.-553+4842A>C) c.2297T>G (p.Leu766Arg) c.2201T>G (p.Leu734Arg) c.-138T>G (n.-138T>G) c.2324T>G (p.Leu775Arg) c.2228T>G (p.Leu743Arg) c.2168T>G (p.Leu723Arg) c.2072T>G (p.Leu691Arg) | |
| 6 | g.43048350A>G | CA364218836 | CUL7,KLC4 | c.2045T>C (p.Leu682Pro) n.2328T>C c.2141T>C (p.Leu714Pro) n.2344T>C n.2379T>C c.537T>C c.-553+4842A>G (n.-553+4842A>G) c.2297T>C (p.Leu766Pro) c.2201T>C (p.Leu734Pro) c.-138T>C (n.-138T>C) c.2324T>C (p.Leu775Pro) c.2228T>C (p.Leu743Pro) c.2168T>C (p.Leu723Pro) c.2072T>C (p.Leu691Pro) | |
| 6 | g.43048350A>T | CA364218839 | CUL7,KLC4 | c.2045T>A (p.Leu682Gln) n.2328T>A c.2141T>A (p.Leu714Gln) n.2344T>A n.2379T>A c.537T>A c.-553+4842A>T (n.-553+4842A>T) c.2297T>A (p.Leu766Gln) c.2201T>A (p.Leu734Gln) c.-138T>A (n.-138T>A) c.2324T>A (p.Leu775Gln) c.2228T>A (p.Leu743Gln) c.2168T>A (p.Leu723Gln) c.2072T>A (p.Leu691Gln) | |
| 6 | g.43048351G>A | CA138249211 | CUL7,KLC4 | c.2044C>T (p.Leu682=) n.2327C>T c.2140C>T (p.Leu714=) n.2343C>T n.2378C>T c.536C>T c.-553+4843G>A (n.-553+4843G>A) c.2296C>T (p.Leu766=) c.2200C>T (p.Leu734=) c.-139C>T (n.-139C>T) c.2323C>T (p.Leu775=) c.2227C>T (p.Leu743=) c.2167C>T (p.Leu723=) c.2071C>T (p.Leu691=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.43048351G>C | CA364218845 | CUL7,KLC4 | c.2044C>G (p.Leu682Val) n.2327C>G c.2140C>G (p.Leu714Val) n.2343C>G n.2378C>G c.536C>G c.-553+4843G>C (n.-553+4843G>C) c.2296C>G (p.Leu766Val) c.2200C>G (p.Leu734Val) c.-139C>G (n.-139C>G) c.2323C>G (p.Leu775Val) c.2227C>G (p.Leu743Val) c.2167C>G (p.Leu723Val) c.2071C>G (p.Leu691Val) | |
| 6 | g.43048351G= | CA1624357324 | CUL7,KLC4 | c.2044C= (p.Leu682=) n.2327C= c.2140C= (p.Leu714=) n.2343C= n.2378C= c.536C= c.-553+4843G= (n.-553+4843G=) c.2296C= (p.Leu766=) c.2200C= (p.Leu734=) c.-139C= (n.-139C=) c.2323C= (p.Leu775=) c.2227C= (p.Leu743=) c.2167C= (p.Leu723=) c.2071C= (p.Leu691=) | |
| 6 | g.43048351G>T | CA364218848 | CUL7,KLC4 | c.2044C>A (p.Leu682Met) n.2327C>A c.2140C>A (p.Leu714Met) n.2343C>A n.2378C>A c.536C>A c.-553+4843G>T (n.-553+4843G>T) c.2296C>A (p.Leu766Met) c.2200C>A (p.Leu734Met) c.-139C>A (n.-139C>A) c.2323C>A (p.Leu775Met) c.2227C>A (p.Leu743Met) c.2167C>A (p.Leu723Met) c.2071C>A (p.Leu691Met) | |
| 6 | g.43048352G>A | CA3814009 | CUL7,KLC4 | c.2043C>T (p.Thr681=) n.2326C>T c.2139C>T (p.Thr713=) n.2342C>T n.2377C>T c.535C>T c.-553+4844G>A (n.-553+4844G>A) c.2295C>T (p.Thr765=) c.2199C>T (p.Thr733=) c.-140C>T (n.-140C>T) c.2322C>T (p.Thr774=) c.2226C>T (p.Thr742=) c.2166C>T (p.Thr722=) c.2070C>T (p.Thr690=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.43048352G>C | CA3814008 | CUL7,KLC4 | c.2043C>G (p.Thr681=) n.2326C>G c.2139C>G (p.Thr713=) n.2342C>G n.2377C>G c.535C>G c.-553+4844G>C (n.-553+4844G>C) c.2295C>G (p.Thr765=) c.2199C>G (p.Thr733=) c.-140C>G (n.-140C>G) c.2322C>G (p.Thr774=) c.2226C>G (p.Thr742=) c.2166C>G (p.Thr722=) c.2070C>G (p.Thr690=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.43048352G= | CA1624357325 | CUL7,KLC4 | c.2043C= (p.Thr681=) n.2326C= c.2139C= (p.Thr713=) n.2342C= n.2377C= c.535C= c.-553+4844G= (n.-553+4844G=) c.2295C= (p.Thr765=) c.2199C= (p.Thr733=) c.-140C= (n.-140C=) c.2322C= (p.Thr774=) c.2226C= (p.Thr742=) c.2166C= (p.Thr722=) c.2070C= (p.Thr690=) | |
| 6 | g.43048352G>T | CA3814010 | CUL7,KLC4 | c.2043C>A (p.Thr681=) n.2326C>A c.2139C>A (p.Thr713=) n.2342C>A n.2377C>A c.535C>A c.-553+4844G>T (n.-553+4844G>T) c.2295C>A (p.Thr765=) c.2199C>A (p.Thr733=) c.-140C>A (n.-140C>A) c.2322C>A (p.Thr774=) c.2226C>A (p.Thr742=) c.2166C>A (p.Thr722=) c.2070C>A (p.Thr690=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.43048353G>A | CA364218855 | CUL7,KLC4 | c.2042C>T (p.Thr681Ile) n.2325C>T c.2138C>T (p.Thr713Ile) n.2341C>T n.2376C>T c.534C>T c.-553+4845G>A (n.-553+4845G>A) c.2294C>T (p.Thr765Ile) c.2198C>T (p.Thr733Ile) c.-141C>T (n.-141C>T) c.2321C>T (p.Thr774Ile) c.2225C>T (p.Thr742Ile) c.2165C>T (p.Thr722Ile) c.2069C>T (p.Thr690Ile) | |
| 6 | g.43048353G>C | CA364218856 | CUL7,KLC4 | c.2042C>G (p.Thr681Ser) n.2325C>G c.2138C>G (p.Thr713Ser) n.2341C>G n.2376C>G c.534C>G c.-553+4845G>C (n.-553+4845G>C) c.2294C>G (p.Thr765Ser) c.2198C>G (p.Thr733Ser) c.-141C>G (n.-141C>G) c.2321C>G (p.Thr774Ser) c.2225C>G (p.Thr742Ser) c.2165C>G (p.Thr722Ser) c.2069C>G (p.Thr690Ser) | |
| 6 | g.43048353G>T | CA364218859 | CUL7,KLC4 | c.2042C>A (p.Thr681Asn) n.2325C>A c.2138C>A (p.Thr713Asn) n.2341C>A n.2376C>A c.534C>A c.-553+4845G>T (n.-553+4845G>T) c.2294C>A (p.Thr765Asn) c.2198C>A (p.Thr733Asn) c.-141C>A (n.-141C>A) c.2321C>A (p.Thr774Asn) c.2225C>A (p.Thr742Asn) c.2165C>A (p.Thr722Asn) c.2069C>A (p.Thr690Asn) | |
| 6 | g.43048354T>A | CA364218861 | CUL7,KLC4 | c.2041A>T (p.Thr681Ser) n.2324A>T c.2137A>T (p.Thr713Ser) n.2340A>T n.2375A>T c.533A>T c.-553+4846T>A (n.-553+4846T>A) c.2293A>T (p.Thr765Ser) c.2197A>T (p.Thr733Ser) c.-142A>T (n.-142A>T) c.2320A>T (p.Thr774Ser) c.2224A>T (p.Thr742Ser) c.2164A>T (p.Thr722Ser) c.2068A>T (p.Thr690Ser) | |
| 6 | g.43048354T>C | CA364218863 | CUL7,KLC4 | c.2041A>G (p.Thr681Ala) n.2324A>G c.2137A>G (p.Thr713Ala) n.2340A>G n.2375A>G c.533A>G c.-553+4846T>C (n.-553+4846T>C) c.2293A>G (p.Thr765Ala) c.2197A>G (p.Thr733Ala) c.-142A>G (n.-142A>G) c.2320A>G (p.Thr774Ala) c.2224A>G (p.Thr742Ala) c.2164A>G (p.Thr722Ala) c.2068A>G (p.Thr690Ala) | |
| 6 | g.43048354T>G | CA364218866 | CUL7,KLC4 | c.2041A>C (p.Thr681Pro) n.2324A>C c.2137A>C (p.Thr713Pro) n.2340A>C n.2375A>C c.533A>C c.-553+4846T>G (n.-553+4846T>G) c.2293A>C (p.Thr765Pro) c.2197A>C (p.Thr733Pro) c.-142A>C (n.-142A>C) c.2320A>C (p.Thr774Pro) c.2224A>C (p.Thr742Pro) c.2164A>C (p.Thr722Pro) c.2068A>C (p.Thr690Pro) | |
| 6 | g.43048355C>A | CA364218869 | CUL7,KLC4 | c.2040G>T (p.Arg680Ser) n.2323G>T c.2136G>T (p.Arg712Ser) n.2339G>T n.2374G>T c.532G>T c.-553+4847C>A (n.-553+4847C>A) c.2292G>T (p.Arg764Ser) c.2196G>T (p.Arg732Ser) c.-143G>T (n.-143G>T) c.2319G>T (p.Arg773Ser) c.2223G>T (p.Arg741Ser) c.2163G>T (p.Arg721Ser) c.2067G>T (p.Arg689Ser) | COSMIC COSMIC |
| 6 | g.43048355C>G | CA364218872 | CUL7,KLC4 | c.2040G>C (p.Arg680Ser) n.2323G>C c.2136G>C (p.Arg712Ser) n.2339G>C n.2374G>C c.532G>C c.-553+4847C>G (n.-553+4847C>G) c.2292G>C (p.Arg764Ser) c.2196G>C (p.Arg732Ser) c.-143G>C (n.-143G>C) c.2319G>C (p.Arg773Ser) c.2223G>C (p.Arg741Ser) c.2163G>C (p.Arg721Ser) c.2067G>C (p.Arg689Ser) | gnomAD v4 |
| 6 | g.43048355C>T | CA450261695 | CUL7,KLC4 | c.2040G>A (p.Arg680=) n.2323G>A c.2136G>A (p.Arg712=) n.2339G>A n.2374G>A c.532G>A c.-553+4847C>T (n.-553+4847C>T) c.2292G>A (p.Arg764=) c.2196G>A (p.Arg732=) c.-143G>A (n.-143G>A) c.2319G>A (p.Arg773=) c.2223G>A (p.Arg741=) c.2163G>A (p.Arg721=) c.2067G>A (p.Arg689=) | |
| 6 | g.43048356C>A | CA364218875 | CUL7,KLC4 | c.2039G>T (p.Arg680Met) n.2322G>T c.2135G>T (p.Arg712Met) n.2338G>T n.2373G>T c.531G>T c.-553+4848C>A (n.-553+4848C>A) c.2291G>T (p.Arg764Met) c.2195G>T (p.Arg732Met) c.-144G>T (n.-144G>T) c.2318G>T (p.Arg773Met) c.2222G>T (p.Arg741Met) c.2162G>T (p.Arg721Met) c.2066G>T (p.Arg689Met) | |
| 6 | g.43048356C= | CA1624357326 | CUL7,KLC4 | c.2039G= (p.Arg680=) n.2322G= c.2135G= (p.Arg712=) n.2338G= n.2373G= c.531G= c.-553+4848C= (n.-553+4848C=) c.2291G= (p.Arg764=) c.2195G= (p.Arg732=) c.-144G= (n.-144G=) c.2318G= (p.Arg773=) c.2222G= (p.Arg741=) c.2162G= (p.Arg721=) c.2066G= (p.Arg689=) | |
| 6 | g.43048356C>G | CA364218877 | CUL7,KLC4 | c.2039G>C (p.Arg680Thr) n.2322G>C c.2135G>C (p.Arg712Thr) n.2338G>C n.2373G>C c.531G>C c.-553+4848C>G (n.-553+4848C>G) c.2291G>C (p.Arg764Thr) c.2195G>C (p.Arg732Thr) c.-144G>C (n.-144G>C) c.2318G>C (p.Arg773Thr) c.2222G>C (p.Arg741Thr) c.2162G>C (p.Arg721Thr) c.2066G>C (p.Arg689Thr) | |
| 6 | g.43048356C>T | CA3814011 | CUL7,KLC4 | c.2039G>A (p.Arg680Lys) n.2322G>A c.2135G>A (p.Arg712Lys) n.2338G>A n.2373G>A c.531G>A c.-553+4848C>T (n.-553+4848C>T) c.2291G>A (p.Arg764Lys) c.2195G>A (p.Arg732Lys) c.-144G>A (n.-144G>A) c.2318G>A (p.Arg773Lys) c.2222G>A (p.Arg741Lys) c.2162G>A (p.Arg721Lys) c.2066G>A (p.Arg689Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.43048357T>A | CA364218883 | CUL7,KLC4 | c.2038A>T (p.Arg680Trp) n.2321A>T c.2134A>T (p.Arg712Trp) n.2337A>T n.2372A>T c.530A>T c.-553+4849T>A (n.-553+4849T>A) c.2290A>T (p.Arg764Trp) c.2194A>T (p.Arg732Trp) c.-145A>T (n.-145A>T) c.2317A>T (p.Arg773Trp) c.2221A>T (p.Arg741Trp) c.2161A>T (p.Arg721Trp) c.2065A>T (p.Arg689Trp) | |
| 6 | g.43048357T>C | CA364218886 | CUL7,KLC4 | c.2038A>G (p.Arg680Gly) n.2321A>G c.2134A>G (p.Arg712Gly) n.2337A>G n.2372A>G c.530A>G c.-553+4849T>C (n.-553+4849T>C) c.2290A>G (p.Arg764Gly) c.2194A>G (p.Arg732Gly) c.-145A>G (n.-145A>G) c.2317A>G (p.Arg773Gly) c.2221A>G (p.Arg741Gly) c.2161A>G (p.Arg721Gly) c.2065A>G (p.Arg689Gly) | |
| 6 | g.43048357T>G | CA450261697 | CUL7,KLC4 | c.2038A>C (p.Arg680=) n.2321A>C c.2134A>C (p.Arg712=) n.2337A>C n.2372A>C c.530A>C c.-553+4849T>G (n.-553+4849T>G) c.2290A>C (p.Arg764=) c.2194A>C (p.Arg732=) c.-145A>C (n.-145A>C) c.2317A>C (p.Arg773=) c.2221A>C (p.Arg741=) c.2161A>C (p.Arg721=) c.2065A>C (p.Arg689=) | |
| 6 | g.43048358G>A | CA3814013 | CUL7,KLC4 | c.2037C>T (p.Asn679=) n.2320C>T c.2133C>T (p.Asn711=) n.2336C>T n.2371C>T c.529C>T c.-553+4850G>A (n.-553+4850G>A) c.2289C>T (p.Asn763=) c.2193C>T (p.Asn731=) c.-146C>T (n.-146C>T) c.2316C>T (p.Asn772=) c.2220C>T (p.Asn740=) c.2160C>T (p.Asn720=) c.2064C>T (p.Asn688=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.43048358G>C | CA3814012 | CUL7,KLC4 | c.2037C>G (p.Asn679Lys) n.2320C>G c.2133C>G (p.Asn711Lys) n.2336C>G n.2371C>G c.529C>G c.-553+4850G>C (n.-553+4850G>C) c.2289C>G (p.Asn763Lys) c.2193C>G (p.Asn731Lys) c.-146C>G (n.-146C>G) c.2316C>G (p.Asn772Lys) c.2220C>G (p.Asn740Lys) c.2160C>G (p.Asn720Lys) c.2064C>G (p.Asn688Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.43048358G= | CA1624357327 | CUL7,KLC4 | c.2037C= (p.Asn679=) n.2320C= c.2133C= (p.Asn711=) n.2336C= n.2371C= c.529C= c.-553+4850G= (n.-553+4850G=) c.2289C= (p.Asn763=) c.2193C= (p.Asn731=) c.-146C= (n.-146C=) c.2316C= (p.Asn772=) c.2220C= (p.Asn740=) c.2160C= (p.Asn720=) c.2064C= (p.Asn688=) | |
| 6 | g.43048358G>T | CA364218892 | CUL7,KLC4 | c.2037C>A (p.Asn679Lys) n.2320C>A c.2133C>A (p.Asn711Lys) n.2336C>A n.2371C>A c.529C>A c.-553+4850G>T (n.-553+4850G>T) c.2289C>A (p.Asn763Lys) c.2193C>A (p.Asn731Lys) c.-146C>A (n.-146C>A) c.2316C>A (p.Asn772Lys) c.2220C>A (p.Asn740Lys) c.2160C>A (p.Asn720Lys) c.2064C>A (p.Asn688Lys) | |
| 6 | g.43048359T>A | CA364218893 | CUL7,KLC4 | c.2036A>T (p.Asn679Ile) n.2319A>T c.2132A>T (p.Asn711Ile) n.2335A>T n.2370A>T c.528A>T c.-553+4851T>A (n.-553+4851T>A) c.2288A>T (p.Asn763Ile) c.2192A>T (p.Asn731Ile) c.-147A>T (n.-147A>T) c.2315A>T (p.Asn772Ile) c.2219A>T (p.Asn740Ile) c.2159A>T (p.Asn720Ile) c.2063A>T (p.Asn688Ile) | |
| 6 | g.43048359T>C | CA364218896 | CUL7,KLC4 | c.2036A>G (p.Asn679Ser) n.2319A>G c.2132A>G (p.Asn711Ser) n.2335A>G n.2370A>G c.528A>G c.-553+4851T>C (n.-553+4851T>C) c.2288A>G (p.Asn763Ser) c.2192A>G (p.Asn731Ser) c.-147A>G (n.-147A>G) c.2315A>G (p.Asn772Ser) c.2219A>G (p.Asn740Ser) c.2159A>G (p.Asn720Ser) c.2063A>G (p.Asn688Ser) | |
| 6 | g.43048359T>G | CA364218900 | CUL7,KLC4 | c.2036A>C (p.Asn679Thr) n.2319A>C c.2132A>C (p.Asn711Thr) n.2335A>C n.2370A>C c.528A>C c.-553+4851T>G (n.-553+4851T>G) c.2288A>C (p.Asn763Thr) c.2192A>C (p.Asn731Thr) c.-147A>C (n.-147A>C) c.2315A>C (p.Asn772Thr) c.2219A>C (p.Asn740Thr) c.2159A>C (p.Asn720Thr) c.2063A>C (p.Asn688Thr) | |
| 6 | g.43048360T>A | CA364218907 | CUL7,KLC4 | c.2035A>T (p.Asn679Tyr) n.2318A>T c.2131A>T (p.Asn711Tyr) n.2334A>T n.2369A>T c.527A>T c.-553+4852T>A (n.-553+4852T>A) c.2287A>T (p.Asn763Tyr) c.2191A>T (p.Asn731Tyr) c.-148A>T (n.-148A>T) c.2314A>T (p.Asn772Tyr) c.2218A>T (p.Asn740Tyr) c.2158A>T (p.Asn720Tyr) c.2062A>T (p.Asn688Tyr) | |
| 6 | g.43048360T>C | CA364218904 | CUL7,KLC4 | c.2035A>G (p.Asn679Asp) n.2318A>G c.2131A>G (p.Asn711Asp) n.2334A>G n.2369A>G c.527A>G c.-553+4852T>C (n.-553+4852T>C) c.2287A>G (p.Asn763Asp) c.2191A>G (p.Asn731Asp) c.-148A>G (n.-148A>G) c.2314A>G (p.Asn772Asp) c.2218A>G (p.Asn740Asp) c.2158A>G (p.Asn720Asp) c.2062A>G (p.Asn688Asp) | |
| 6 | g.43048360T>G | CA364218902 | CUL7,KLC4 | c.2035A>C (p.Asn679His) n.2318A>C c.2131A>C (p.Asn711His) n.2334A>C n.2369A>C c.527A>C c.-553+4852T>G (n.-553+4852T>G) c.2287A>C (p.Asn763His) c.2191A>C (p.Asn731His) c.-148A>C (n.-148A>C) c.2314A>C (p.Asn772His) c.2218A>C (p.Asn740His) c.2158A>C (p.Asn720His) c.2062A>C (p.Asn688His) | |
| 6 | g.43048361A>C | CA450261700 | CUL7,KLC4 | c.2034T>G (p.Thr678=) n.2317T>G c.2130T>G (p.Thr710=) n.2333T>G n.2368T>G c.526T>G c.-553+4853A>C (n.-553+4853A>C) c.2286T>G (p.Thr762=) c.2190T>G (p.Thr730=) c.-149T>G (n.-149T>G) c.2313T>G (p.Thr771=) c.2217T>G (p.Thr739=) c.2157T>G (p.Thr719=) c.2061T>G (p.Thr687=) | gnomAD v4 |
| 6 | g.43048361A>G | CA450261703 | CUL7,KLC4 | c.2034T>C (p.Thr678=) n.2317T>C c.2130T>C (p.Thr710=) n.2333T>C n.2368T>C c.526T>C c.-553+4853A>G (n.-553+4853A>G) c.2286T>C (p.Thr762=) c.2190T>C (p.Thr730=) c.-149T>C (n.-149T>C) c.2313T>C (p.Thr771=) c.2217T>C (p.Thr739=) c.2157T>C (p.Thr719=) c.2061T>C (p.Thr687=) | |
| 6 | g.43048361A>T | CA450261702 | CUL7,KLC4 | c.2034T>A (p.Thr678=) n.2317T>A c.2130T>A (p.Thr710=) n.2333T>A n.2368T>A c.526T>A c.-553+4853A>T (n.-553+4853A>T) c.2286T>A (p.Thr762=) c.2190T>A (p.Thr730=) c.-149T>A (n.-149T>A) c.2313T>A (p.Thr771=) c.2217T>A (p.Thr739=) c.2157T>A (p.Thr719=) c.2061T>A (p.Thr687=) | gnomAD v4 |
| 6 | g.43048362G>A | CA364218911 | CUL7,KLC4 | c.2033C>T (p.Thr678Ile) n.2316C>T c.2129C>T (p.Thr710Ile) n.2332C>T n.2367C>T c.525C>T c.-553+4854G>A (n.-553+4854G>A) c.2285C>T (p.Thr762Ile) c.2189C>T (p.Thr730Ile) c.-150C>T (n.-150C>T) c.2312C>T (p.Thr771Ile) c.2216C>T (p.Thr739Ile) c.2156C>T (p.Thr719Ile) c.2060C>T (p.Thr687Ile) | |
| 6 | g.43048362G>C | CA364218913 | CUL7,KLC4 | c.2033C>G (p.Thr678Ser) n.2316C>G c.2129C>G (p.Thr710Ser) n.2332C>G n.2367C>G c.525C>G c.-553+4854G>C (n.-553+4854G>C) c.2285C>G (p.Thr762Ser) c.2189C>G (p.Thr730Ser) c.-150C>G (n.-150C>G) c.2312C>G (p.Thr771Ser) c.2216C>G (p.Thr739Ser) c.2156C>G (p.Thr719Ser) c.2060C>G (p.Thr687Ser) | dbSNP |
| 6 | g.43048362G= | CA1624357328 | CUL7,KLC4 | c.2033C= (p.Thr678=) n.2316C= c.2129C= (p.Thr710=) n.2332C= n.2367C= c.525C= c.-553+4854G= (n.-553+4854G=) c.2285C= (p.Thr762=) c.2189C= (p.Thr730=) c.-150C= (n.-150C=) c.2312C= (p.Thr771=) c.2216C= (p.Thr739=) c.2156C= (p.Thr719=) c.2060C= (p.Thr687=) | |
| 6 | g.43048362G>T | CA364218915 | CUL7,KLC4 | c.2033C>A (p.Thr678Asn) n.2316C>A c.2129C>A (p.Thr710Asn) n.2332C>A n.2367C>A c.525C>A c.-553+4854G>T (n.-553+4854G>T) c.2285C>A (p.Thr762Asn) c.2189C>A (p.Thr730Asn) c.-150C>A (n.-150C>A) c.2312C>A (p.Thr771Asn) c.2216C>A (p.Thr739Asn) c.2156C>A (p.Thr719Asn) c.2060C>A (p.Thr687Asn) | gnomAD v4 |
| 6 | g.43048363T>A | CA364218917 | CUL7,KLC4 | c.2032A>T (p.Thr678Ser) n.2315A>T c.2128A>T (p.Thr710Ser) n.2331A>T n.2366A>T c.524A>T c.-553+4855T>A (n.-553+4855T>A) c.2284A>T (p.Thr762Ser) c.2188A>T (p.Thr730Ser) c.-151A>T (n.-151A>T) c.2311A>T (p.Thr771Ser) c.2215A>T (p.Thr739Ser) c.2155A>T (p.Thr719Ser) c.2059A>T (p.Thr687Ser) | |
| 6 | g.43048363T>C | CA138249226 | CUL7,KLC4 | c.2032A>G (p.Thr678Ala) n.2315A>G c.2128A>G (p.Thr710Ala) n.2331A>G n.2366A>G c.524A>G c.-553+4855T>C (n.-553+4855T>C) c.2284A>G (p.Thr762Ala) c.2188A>G (p.Thr730Ala) c.-151A>G (n.-151A>G) c.2311A>G (p.Thr771Ala) c.2215A>G (p.Thr739Ala) c.2155A>G (p.Thr719Ala) c.2059A>G (p.Thr687Ala) | dbSNP gnomAD v4 |
| 6 | g.43048363T>G | CA364218921 | CUL7,KLC4 | c.2032A>C (p.Thr678Pro) n.2315A>C c.2128A>C (p.Thr710Pro) n.2331A>C n.2366A>C c.524A>C c.-553+4855T>G (n.-553+4855T>G) c.2284A>C (p.Thr762Pro) c.2188A>C (p.Thr730Pro) c.-151A>C (n.-151A>C) c.2311A>C (p.Thr771Pro) c.2215A>C (p.Thr739Pro) c.2155A>C (p.Thr719Pro) c.2059A>C (p.Thr687Pro) | gnomAD v4 |
| 6 | g.43048363T= | CA1624357329 | CUL7,KLC4 | c.2032A= (p.Thr678=) n.2315A= c.2128A= (p.Thr710=) n.2331A= n.2366A= c.524A= c.-553+4855T= (n.-553+4855T=) c.2284A= (p.Thr762=) c.2188A= (p.Thr730=) c.-151A= (n.-151A=) c.2311A= (p.Thr771=) c.2215A= (p.Thr739=) c.2155A= (p.Thr719=) c.2059A= (p.Thr687=) | |
| 6 | g.43048364C>A | CA364218924 | CUL7,KLC4 | c.2031G>T (p.Glu677Asp) n.2314G>T c.2127G>T (p.Glu709Asp) n.2330G>T n.2365G>T c.523G>T c.-553+4856C>A (n.-553+4856C>A) c.2283G>T (p.Glu761Asp) c.2187G>T (p.Glu729Asp) c.-152G>T (n.-152G>T) c.2310G>T (p.Glu770Asp) c.2214G>T (p.Glu738Asp) c.2154G>T (p.Glu718Asp) c.2058G>T (p.Glu686Asp) | |
| 6 | g.43048364C>G | CA364218927 | CUL7,KLC4 | c.2031G>C (p.Glu677Asp) n.2314G>C c.2127G>C (p.Glu709Asp) n.2330G>C n.2365G>C c.523G>C c.-553+4856C>G (n.-553+4856C>G) c.2283G>C (p.Glu761Asp) c.2187G>C (p.Glu729Asp) c.-152G>C (n.-152G>C) c.2310G>C (p.Glu770Asp) c.2214G>C (p.Glu738Asp) c.2154G>C (p.Glu718Asp) c.2058G>C (p.Glu686Asp) |