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 |
|---|---|---|---|---|---|
| 16 | g.53465439_53470922del | CA2741808828 | RBL2 | c.1700_2703del n.1839_4494del n.1399_2402del c.830_1833del c.1478_2481del c.1052_2055del c.1700_2556del | ClinVar |
| 16 | g.53470809_53470822del | CA2633231980 | RBL2 | c.2590_2603del (p.Arg865AspfsTer4) n.4381_4394del n.2289_2302del c.1720_1733del (p.Arg575AspfsTer4) c.2368_2381del (p.Arg791AspfsTer4) c.1942_1955del (p.Arg649AspfsTer4) c.2443_2456del (p.Arg816AspfsTer4) | gnomAD v4 |
| 16 | g.53470814G>A | CA281337105 | RBL2 | c.2595G>A (p.Arg865=) n.4386G>A n.2294G>A c.1725G>A (p.Arg575=) c.2373G>A (p.Arg791=) c.1947G>A (p.Arg649=) c.2448G>A (p.Arg816=) | dbSNP gnomAD v4 |
| 16 | g.53470814G>C | CA395913799 | RBL2 | c.2595G>C (p.Arg865Ser) n.4386G>C n.2294G>C c.1725G>C (p.Arg575Ser) c.2373G>C (p.Arg791Ser) c.1947G>C (p.Arg649Ser) c.2448G>C (p.Arg816Ser) | |
| 16 | g.53470814G= | CA2223144009 | RBL2 | c.2595G= (p.Arg865=) n.4386G= n.2294G= c.1725G= (p.Arg575=) c.2373G= (p.Arg791=) c.1947G= (p.Arg649=) c.2448G= (p.Arg816=) | |
| 16 | g.53470814G>T | CA395913798 | RBL2 | c.2595G>T (p.Arg865Ser) n.4386G>T n.2294G>T c.1725G>T (p.Arg575Ser) c.2373G>T (p.Arg791Ser) c.1947G>T (p.Arg649Ser) c.2448G>T (p.Arg816Ser) | |
| 16 | g.53470815A>C | CA395913800 | RBL2 | c.2596A>C (p.Lys866Gln) n.4387A>C n.2295A>C c.1726A>C (p.Lys576Gln) c.2374A>C (p.Lys792Gln) c.1948A>C (p.Lys650Gln) c.2449A>C (p.Lys817Gln) | |
| 16 | g.53470815A>G | CA395913801 | RBL2 | c.2596A>G (p.Lys866Glu) n.4387A>G n.2295A>G c.1726A>G (p.Lys576Glu) c.2374A>G (p.Lys792Glu) c.1948A>G (p.Lys650Glu) c.2449A>G (p.Lys817Glu) | gnomAD v4 |
| 16 | g.53470815A>T | CA395913802 | RBL2 | c.2596A>T (p.Lys866Ter) n.4387A>T n.2295A>T c.1726A>T (p.Lys576Ter) c.2374A>T (p.Lys792Ter) c.1948A>T (p.Lys650Ter) c.2449A>T (p.Lys817Ter) | |
| 16 | g.53470816A>C | CA395913803 | RBL2 | c.2597A>C (p.Lys866Thr) n.4388A>C n.2296A>C c.1727A>C (p.Lys576Thr) c.2375A>C (p.Lys792Thr) c.1949A>C (p.Lys650Thr) c.2450A>C (p.Lys817Thr) | |
| 16 | g.53470816A>G | CA395913804 | RBL2 | c.2597A>G (p.Lys866Arg) n.4388A>G n.2296A>G c.1727A>G (p.Lys576Arg) c.2375A>G (p.Lys792Arg) c.1949A>G (p.Lys650Arg) c.2450A>G (p.Lys817Arg) | |
| 16 | g.53470816A>T | CA395913805 | RBL2 | c.2597A>T (p.Lys866Ile) n.4388A>T n.2296A>T c.1727A>T (p.Lys576Ile) c.2375A>T (p.Lys792Ile) c.1949A>T (p.Lys650Ile) c.2450A>T (p.Lys817Ile) | |
| 16 | g.53470817A>C | CA395913806 | RBL2 | c.2598A>C (p.Lys866Asn) n.4389A>C n.2297A>C c.1728A>C (p.Lys576Asn) c.2376A>C (p.Lys792Asn) c.1950A>C (p.Lys650Asn) c.2451A>C (p.Lys817Asn) | |
| 16 | g.53470817A>G | CA495783741 | RBL2 | c.2598A>G (p.Lys866=) n.4389A>G n.2297A>G c.1728A>G (p.Lys576=) c.2376A>G (p.Lys792=) c.1950A>G (p.Lys650=) c.2451A>G (p.Lys817=) | |
| 16 | g.53470817A>T | CA395913807 | RBL2 | c.2598A>T (p.Lys866Asn) n.4389A>T n.2297A>T c.1728A>T (p.Lys576Asn) c.2376A>T (p.Lys792Asn) c.1950A>T (p.Lys650Asn) c.2451A>T (p.Lys817Asn) | |
| 16 | g.53470818A>C | CA395913808 | RBL2 | c.2599A>C (p.Lys867Gln) n.4390A>C n.2298A>C c.1729A>C (p.Lys577Gln) c.2377A>C (p.Lys793Gln) c.1951A>C (p.Lys651Gln) c.2452A>C (p.Lys818Gln) | |
| 16 | g.53470818A>G | CA395913809 | RBL2 | c.2599A>G (p.Lys867Glu) n.4390A>G n.2298A>G c.1729A>G (p.Lys577Glu) c.2377A>G (p.Lys793Glu) c.1951A>G (p.Lys651Glu) c.2452A>G (p.Lys818Glu) | |
| 16 | g.53470818A>T | CA395913810 | RBL2 | c.2599A>T (p.Lys867Ter) n.4390A>T n.2298A>T c.1729A>T (p.Lys577Ter) c.2377A>T (p.Lys793Ter) c.1951A>T (p.Lys651Ter) c.2452A>T (p.Lys818Ter) | |
| 16 | g.53470819A>C | CA395913811 | RBL2 | c.2600A>C (p.Lys867Thr) n.4391A>C n.2299A>C c.1730A>C (p.Lys577Thr) c.2378A>C (p.Lys793Thr) c.1952A>C (p.Lys651Thr) c.2453A>C (p.Lys818Thr) | |
| 16 | g.53470819A>G | CA395913812 | RBL2 | c.2600A>G (p.Lys867Arg) n.4391A>G n.2299A>G c.1730A>G (p.Lys577Arg) c.2378A>G (p.Lys793Arg) c.1952A>G (p.Lys651Arg) c.2453A>G (p.Lys818Arg) | gnomAD v4 |
| 16 | g.53470819A>T | CA395913813 | RBL2 | c.2600A>T (p.Lys867Ile) n.4391A>T n.2299A>T c.1730A>T (p.Lys577Ile) c.2378A>T (p.Lys793Ile) c.1952A>T (p.Lys651Ile) c.2453A>T (p.Lys818Ile) | |
| 16 | g.53470820A>C | CA395913815 | RBL2 | c.2601A>C (p.Lys867Asn) n.4392A>C n.2300A>C c.1731A>C (p.Lys577Asn) c.2379A>C (p.Lys793Asn) c.1953A>C (p.Lys651Asn) c.2454A>C (p.Lys818Asn) | |
| 16 | g.53470820A>G | CA495783745 | RBL2 | c.2601A>G (p.Lys867=) n.4392A>G n.2300A>G c.1731A>G (p.Lys577=) c.2379A>G (p.Lys793=) c.1953A>G (p.Lys651=) c.2454A>G (p.Lys818=) | |
| 16 | g.53470820A>T | CA395913814 | RBL2 | c.2601A>T (p.Lys867Asn) n.4392A>T n.2300A>T c.1731A>T (p.Lys577Asn) c.2379A>T (p.Lys793Asn) c.1953A>T (p.Lys651Asn) c.2454A>T (p.Lys818Asn) | gnomAD v4 |
| 16 | g.53470821A>C | CA395913816 | RBL2 | c.2602A>C (p.Ile868Leu) n.4393A>C n.2301A>C c.1732A>C (p.Ile578Leu) c.2380A>C (p.Ile794Leu) c.1954A>C (p.Ile652Leu) c.2455A>C (p.Ile819Leu) | |
| 16 | g.53470821A>G | CA395913817 | RBL2 | c.2602A>G (p.Ile868Val) n.4393A>G n.2301A>G c.1732A>G (p.Ile578Val) c.2380A>G (p.Ile794Val) c.1954A>G (p.Ile652Val) c.2455A>G (p.Ile819Val) | gnomAD v4 |
| 16 | g.53470821A>T | CA395913818 | RBL2 | c.2602A>T (p.Ile868Phe) n.4393A>T n.2301A>T c.1732A>T (p.Ile578Phe) c.2380A>T (p.Ile794Phe) c.1954A>T (p.Ile652Phe) c.2455A>T (p.Ile819Phe) | |
| 16 | g.53470822T>A | CA395913819 | RBL2 | c.2603T>A (p.Ile868Asn) n.4394T>A n.2302T>A c.1733T>A (p.Ile578Asn) c.2381T>A (p.Ile794Asn) c.1955T>A (p.Ile652Asn) c.2456T>A (p.Ile819Asn) | |
| 16 | g.53470822T>C | CA395913820 | RBL2 | c.2603T>C (p.Ile868Thr) n.4394T>C n.2302T>C c.1733T>C (p.Ile578Thr) c.2381T>C (p.Ile794Thr) c.1955T>C (p.Ile652Thr) c.2456T>C (p.Ile819Thr) | |
| 16 | g.53470822T>G | CA395913821 | RBL2 | c.2603T>G (p.Ile868Ser) n.4394T>G n.2302T>G c.1733T>G (p.Ile578Ser) c.2381T>G (p.Ile794Ser) c.1955T>G (p.Ile652Ser) c.2456T>G (p.Ile819Ser) | |
| 16 | g.53470823C>A | CA495783749 | RBL2 | c.2604C>A (p.Ile868=) n.4395C>A n.2303C>A c.1734C>A (p.Ile578=) c.2382C>A (p.Ile794=) c.1956C>A (p.Ile652=) c.2457C>A (p.Ile819=) | |
| 16 | g.53470823C= | CA2223144020 | RBL2 | c.2604C= (p.Ile868=) n.4395C= n.2303C= c.1734C= (p.Ile578=) c.2382C= (p.Ile794=) c.1956C= (p.Ile652=) c.2457C= (p.Ile819=) | |
| 16 | g.53470823C>G | CA8056587 | RBL2 | c.2604C>G (p.Ile868Met) n.4395C>G n.2303C>G c.1734C>G (p.Ile578Met) c.2382C>G (p.Ile794Met) c.1956C>G (p.Ile652Met) c.2457C>G (p.Ile819Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.53470823C>T | CA495783748 | RBL2 | c.2604C>T (p.Ile868=) n.4395C>T n.2303C>T c.1734C>T (p.Ile578=) c.2382C>T (p.Ile794=) c.1956C>T (p.Ile652=) c.2457C>T (p.Ile819=) | |
| 16 | g.53470824T>A | CA395913822 | RBL2 | c.2605T>A (p.Trp869Arg) n.4396T>A n.2304T>A c.1735T>A (p.Trp579Arg) c.2383T>A (p.Trp795Arg) c.1957T>A (p.Trp653Arg) c.2458T>A (p.Trp820Arg) | |
| 16 | g.53470824T>C | CA395913823 | RBL2 | c.2605T>C (p.Trp869Arg) n.4396T>C n.2304T>C c.1735T>C (p.Trp579Arg) c.2383T>C (p.Trp795Arg) c.1957T>C (p.Trp653Arg) c.2458T>C (p.Trp820Arg) | |
| 16 | g.53470824T>G | CA395913824 | RBL2 | c.2605T>G (p.Trp869Gly) n.4396T>G n.2304T>G c.1735T>G (p.Trp579Gly) c.2383T>G (p.Trp795Gly) c.1957T>G (p.Trp653Gly) c.2458T>G (p.Trp820Gly) | |
| 16 | g.53470825G>A | CA395913825 | RBL2 | c.2606G>A (p.Trp869Ter) n.4397G>A n.2305G>A c.1736G>A (p.Trp579Ter) c.2384G>A (p.Trp795Ter) c.1958G>A (p.Trp653Ter) c.2459G>A (p.Trp820Ter) | |
| 16 | g.53470825G>C | CA395913826 | RBL2 | c.2606G>C (p.Trp869Ser) n.4397G>C n.2305G>C c.1736G>C (p.Trp579Ser) c.2384G>C (p.Trp795Ser) c.1958G>C (p.Trp653Ser) c.2459G>C (p.Trp820Ser) | |
| 16 | g.53470825G>T | CA395913827 | RBL2 | c.2606G>T (p.Trp869Leu) n.4397G>T n.2305G>T c.1736G>T (p.Trp579Leu) c.2384G>T (p.Trp795Leu) c.1958G>T (p.Trp653Leu) c.2459G>T (p.Trp820Leu) | |
| 16 | g.53470826G>A | CA395913828 | RBL2 | c.2607G>A (p.Trp869Ter) n.4398G>A n.2306G>A c.1737G>A (p.Trp579Ter) c.2385G>A (p.Trp795Ter) c.1959G>A (p.Trp653Ter) c.2460G>A (p.Trp820Ter) | |
| 16 | g.53470826G>C | CA395913830 | RBL2 | c.2607G>C (p.Trp869Cys) n.4398G>C n.2306G>C c.1737G>C (p.Trp579Cys) c.2385G>C (p.Trp795Cys) c.1959G>C (p.Trp653Cys) c.2460G>C (p.Trp820Cys) | |
| 16 | g.53470826G>T | CA395913829 | RBL2 | c.2607G>T (p.Trp869Cys) n.4398G>T n.2306G>T c.1737G>T (p.Trp579Cys) c.2385G>T (p.Trp795Cys) c.1959G>T (p.Trp653Cys) c.2460G>T (p.Trp820Cys) | |
| 16 | g.53470827A>C | CA395913831 | RBL2 | c.2608A>C (p.Thr870Pro) n.4399A>C n.2307A>C c.1738A>C (p.Thr580Pro) c.2386A>C (p.Thr796Pro) c.1960A>C (p.Thr654Pro) c.2461A>C (p.Thr821Pro) | |
| 16 | g.53470827A>G | CA395913832 | RBL2 | c.2608A>G (p.Thr870Ala) n.4399A>G n.2307A>G c.1738A>G (p.Thr580Ala) c.2386A>G (p.Thr796Ala) c.1960A>G (p.Thr654Ala) c.2461A>G (p.Thr821Ala) | |
| 16 | g.53470827A>T | CA395913833 | RBL2 | c.2608A>T (p.Thr870Ser) n.4399A>T n.2307A>T c.1738A>T (p.Thr580Ser) c.2386A>T (p.Thr796Ser) c.1960A>T (p.Thr654Ser) c.2461A>T (p.Thr821Ser) | |
| 16 | g.53470828C>A | CA395913834 | RBL2 | c.2609C>A (p.Thr870Asn) n.4400C>A n.2308C>A c.1739C>A (p.Thr580Asn) c.2387C>A (p.Thr796Asn) c.1961C>A (p.Thr654Asn) c.2462C>A (p.Thr821Asn) | |
| 16 | g.53470828C= | CA2223144027 | RBL2 | c.2609C= (p.Thr870=) n.4400C= n.2308C= c.1739C= (p.Thr580=) c.2387C= (p.Thr796=) c.1961C= (p.Thr654=) c.2462C= (p.Thr821=) | |
| 16 | g.53470828C>G | CA395913835 | RBL2 | c.2609C>G (p.Thr870Ser) n.4400C>G n.2308C>G c.1739C>G (p.Thr580Ser) c.2387C>G (p.Thr796Ser) c.1961C>G (p.Thr654Ser) c.2462C>G (p.Thr821Ser) | |
| 16 | g.53470828C>T | CA395913836 | RBL2 | c.2609C>T (p.Thr870Ile) n.4400C>T n.2308C>T c.1739C>T (p.Thr580Ile) c.2387C>T (p.Thr796Ile) c.1961C>T (p.Thr654Ile) c.2462C>T (p.Thr821Ile) | dbSNP |