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.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 |
| 16 | g.53470829C>A | CA495783756 | RBL2 | c.2610C>A (p.Thr870=) n.4401C>A n.2309C>A c.1740C>A (p.Thr580=) c.2388C>A (p.Thr796=) c.1962C>A (p.Thr654=) c.2463C>A (p.Thr821=) | |
| 16 | g.53470829C>G | CA495783758 | RBL2 | c.2610C>G (p.Thr870=) n.4401C>G n.2309C>G c.1740C>G (p.Thr580=) c.2388C>G (p.Thr796=) c.1962C>G (p.Thr654=) c.2463C>G (p.Thr821=) | |
| 16 | g.53470829C>T | CA495783757 | RBL2 | c.2610C>T (p.Thr870=) n.4401C>T n.2309C>T c.1740C>T (p.Thr580=) c.2388C>T (p.Thr796=) c.1962C>T (p.Thr654=) c.2463C>T (p.Thr821=) | gnomAD v4 |
| 16 | g.53470830T>A | CA395913837 | RBL2 | c.2611T>A (p.Cys871Ser) n.4402T>A n.2310T>A c.1741T>A (p.Cys581Ser) c.2389T>A (p.Cys797Ser) c.1963T>A (p.Cys655Ser) c.2464T>A (p.Cys822Ser) | |
| 16 | g.53470830T>C | CA395913838 | RBL2 | c.2611T>C (p.Cys871Arg) n.4402T>C n.2310T>C c.1741T>C (p.Cys581Arg) c.2389T>C (p.Cys797Arg) c.1963T>C (p.Cys655Arg) c.2464T>C (p.Cys822Arg) | |
| 16 | g.53470830T>G | CA395913839 | RBL2 | c.2611T>G (p.Cys871Gly) n.4402T>G n.2310T>G c.1741T>G (p.Cys581Gly) c.2389T>G (p.Cys797Gly) c.1963T>G (p.Cys655Gly) c.2464T>G (p.Cys822Gly) | |
| 16 | g.53470831G>A | CA395913840 | RBL2 | c.2612G>A (p.Cys871Tyr) n.4403G>A n.2311G>A c.1742G>A (p.Cys581Tyr) c.2390G>A (p.Cys797Tyr) c.1964G>A (p.Cys655Tyr) c.2465G>A (p.Cys822Tyr) | |
| 16 | g.53470831G>C | CA395913841 | RBL2 | c.2612G>C (p.Cys871Ser) n.4403G>C n.2311G>C c.1742G>C (p.Cys581Ser) c.2390G>C (p.Cys797Ser) c.1964G>C (p.Cys655Ser) c.2465G>C (p.Cys822Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.53470831G= | CA2223144031 | RBL2 | c.2612G= (p.Cys871=) n.4403G= n.2311G= c.1742G= (p.Cys581=) c.2390G= (p.Cys797=) c.1964G= (p.Cys655=) c.2465G= (p.Cys822=) | |
| 16 | g.53470831G>T | CA395913842 | RBL2 | c.2612G>T (p.Cys871Phe) n.4403G>T n.2311G>T c.1742G>T (p.Cys581Phe) c.2390G>T (p.Cys797Phe) c.1964G>T (p.Cys655Phe) c.2465G>T (p.Cys822Phe) | |
| 16 | g.53470832C>A | CA395913844 | RBL2 | c.2613C>A (p.Cys871Ter) n.4404C>A n.2312C>A c.1743C>A (p.Cys581Ter) c.2391C>A (p.Cys797Ter) c.1965C>A (p.Cys655Ter) c.2466C>A (p.Cys822Ter) | |
| 16 | g.53470832C>G | CA395913843 | RBL2 | c.2613C>G (p.Cys871Trp) n.4404C>G n.2312C>G c.1743C>G (p.Cys581Trp) c.2391C>G (p.Cys797Trp) c.1965C>G (p.Cys655Trp) c.2466C>G (p.Cys822Trp) | |
| 16 | g.53470832C>T | CA495783761 | RBL2 | c.2613C>T (p.Cys871=) n.4404C>T n.2312C>T c.1743C>T (p.Cys581=) c.2391C>T (p.Cys797=) c.1965C>T (p.Cys655=) c.2466C>T (p.Cys822=) | |
| 16 | g.53470833T>A | CA395913845 | RBL2 | c.2614T>A (p.Phe872Ile) n.4405T>A n.2313T>A c.1744T>A (p.Phe582Ile) c.2392T>A (p.Phe798Ile) c.1966T>A (p.Phe656Ile) c.2467T>A (p.Phe823Ile) | |
| 16 | g.53470833T>C | CA395913846 | RBL2 | c.2614T>C (p.Phe872Leu) n.4405T>C n.2313T>C c.1744T>C (p.Phe582Leu) c.2392T>C (p.Phe798Leu) c.1966T>C (p.Phe656Leu) c.2467T>C (p.Phe823Leu) | |
| 16 | g.53470833T>G | CA395913847 | RBL2 | c.2614T>G (p.Phe872Val) n.4405T>G n.2313T>G c.1744T>G (p.Phe582Val) c.2392T>G (p.Phe798Val) c.1966T>G (p.Phe656Val) c.2467T>G (p.Phe823Val) | |
| 16 | g.53470834T>A | CA395913848 | RBL2 | c.2615T>A (p.Phe872Tyr) n.4406T>A n.2314T>A c.1745T>A (p.Phe582Tyr) c.2393T>A (p.Phe798Tyr) c.1967T>A (p.Phe656Tyr) c.2468T>A (p.Phe823Tyr) | |
| 16 | g.53470834T>C | CA395913849 | RBL2 | c.2615T>C (p.Phe872Ser) n.4406T>C n.2314T>C c.1745T>C (p.Phe582Ser) c.2393T>C (p.Phe798Ser) c.1967T>C (p.Phe656Ser) c.2468T>C (p.Phe823Ser) | |
| 16 | g.53470834T>G | CA8056588 | RBL2 | c.2615T>G (p.Phe872Cys) n.4406T>G n.2314T>G c.1745T>G (p.Phe582Cys) c.2393T>G (p.Phe798Cys) c.1967T>G (p.Phe656Cys) c.2468T>G (p.Phe823Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.53470834T= | CA2223144037 | RBL2 | c.2615T= (p.Phe872=) n.4406T= n.2314T= c.1745T= (p.Phe582=) c.2393T= (p.Phe798=) c.1967T= (p.Phe656=) c.2468T= (p.Phe823=) | |
| 16 | g.53470835T>A | CA395913850 | RBL2 | c.2616T>A (p.Phe872Leu) n.4407T>A n.2315T>A c.1746T>A (p.Phe582Leu) c.2394T>A (p.Phe798Leu) c.1968T>A (p.Phe656Leu) c.2469T>A (p.Phe823Leu) | |
| 16 | g.53470835T>C | CA495783762 | RBL2 | c.2616T>C (p.Phe872=) n.4407T>C n.2315T>C c.1746T>C (p.Phe582=) c.2394T>C (p.Phe798=) c.1968T>C (p.Phe656=) c.2469T>C (p.Phe823=) |