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.53470645A= | CA2223143518 | RBL2 | c.2508A= (p.Leu836=) n.4299A= n.2207A= c.1638A= (p.Leu546=) c.2286A= (p.Leu762=) c.1860A= (p.Leu620=) c.2380-101A= (n.2380-101A=) | |
| 16 | g.53470645A>C | CA395913598 | RBL2 | c.2508A>C (p.Leu836Phe) n.4299A>C n.2207A>C c.1638A>C (p.Leu546Phe) c.2286A>C (p.Leu762Phe) c.1860A>C (p.Leu620Phe) c.2380-101A>C (n.2380-101A>C) | |
| 16 | g.53470645A>G | CA495784073 | RBL2 | c.2508A>G (p.Leu836=) n.4299A>G n.2207A>G c.1638A>G (p.Leu546=) c.2286A>G (p.Leu762=) c.1860A>G (p.Leu620=) c.2380-101A>G (n.2380-101A>G) | dbSNP gnomAD v4 |
| 16 | g.53470645A>T | CA395913599 | RBL2 | c.2508A>T (p.Leu836Phe) n.4299A>T n.2207A>T c.1638A>T (p.Leu546Phe) c.2286A>T (p.Leu762Phe) c.1860A>T (p.Leu620Phe) c.2380-101A>T (n.2380-101A>T) | |
| 16 | g.53470646T>A | CA395913600 | RBL2 | c.2509T>A (p.Ser837Thr) n.4300T>A n.2208T>A c.1639T>A (p.Ser547Thr) c.2287T>A (p.Ser763Thr) c.1861T>A (p.Ser621Thr) c.2380-100T>A (n.2380-100T>A) | |
| 16 | g.53470646T>C | CA395913601 | RBL2 | c.2509T>C (p.Ser837Pro) n.4300T>C n.2208T>C c.1639T>C (p.Ser547Pro) c.2287T>C (p.Ser763Pro) c.1861T>C (p.Ser621Pro) c.2380-100T>C (n.2380-100T>C) | |
| 16 | g.53470646T>G | CA395913602 | RBL2 | c.2509T>G (p.Ser837Ala) n.4300T>G n.2208T>G c.1639T>G (p.Ser547Ala) c.2287T>G (p.Ser763Ala) c.1861T>G (p.Ser621Ala) c.2380-100T>G (n.2380-100T>G) | |
| 16 | g.53470647C>A | CA395913603 | RBL2 | c.2510C>A (p.Ser837Ter) n.4301C>A n.2209C>A c.1640C>A (p.Ser547Ter) c.2288C>A (p.Ser763Ter) c.1862C>A (p.Ser621Ter) c.2380-99C>A (n.2380-99C>A) | |
| 16 | g.53470647C= | CA2223143522 | RBL2 | c.2510C= (p.Ser837=) n.4301C= n.2209C= c.1640C= (p.Ser547=) c.2288C= (p.Ser763=) c.1862C= (p.Ser621=) c.2380-99C= (n.2380-99C=) | |
| 16 | g.53470647C>G | CA395913604 | RBL2 | c.2510C>G (p.Ser837Trp) n.4301C>G n.2209C>G c.1640C>G (p.Ser547Trp) c.2288C>G (p.Ser763Trp) c.1862C>G (p.Ser621Trp) c.2380-99C>G (n.2380-99C>G) | |
| 16 | g.53470647C>T | CA8056561 | RBL2 | c.2510C>T (p.Ser837Leu) n.4301C>T n.2209C>T c.1640C>T (p.Ser547Leu) c.2288C>T (p.Ser763Leu) c.1862C>T (p.Ser621Leu) c.2380-99C>T (n.2380-99C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.53470648G>A | CA8056562 | RBL2 | c.2511G>A (p.Ser837=) n.4302G>A n.2210G>A c.1641G>A (p.Ser547=) c.2289G>A (p.Ser763=) c.1863G>A (p.Ser621=) c.2380-98G>A (n.2380-98G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.53470648G>C | CA495784078 | RBL2 | c.2511G>C (p.Ser837=) n.4302G>C n.2210G>C c.1641G>C (p.Ser547=) c.2289G>C (p.Ser763=) c.1863G>C (p.Ser621=) c.2380-98G>C (n.2380-98G>C) | |
| 16 | g.53470648G= | CA2223143528 | RBL2 | c.2511G= (p.Ser837=) n.4302G= n.2210G= c.1641G= (p.Ser547=) c.2289G= (p.Ser763=) c.1863G= (p.Ser621=) c.2380-98G= (n.2380-98G=) | |
| 16 | g.53470648G>T | CA495784079 | RBL2 | c.2511G>T (p.Ser837=) n.4302G>T n.2210G>T c.1641G>T (p.Ser547=) c.2289G>T (p.Ser763=) c.1863G>T (p.Ser621=) c.2380-98G>T (n.2380-98G>T) | |
| 16 | g.53470649C>A | CA395913605 | RBL2 | c.2512C>A (p.Leu838Ile) n.4303C>A n.2211C>A c.1642C>A (p.Leu548Ile) c.2290C>A (p.Leu764Ile) c.1864C>A (p.Leu622Ile) c.2380-97C>A (n.2380-97C>A) | |
| 16 | g.53470649C>G | CA395913606 | RBL2 | c.2512C>G (p.Leu838Val) n.4303C>G n.2211C>G c.1642C>G (p.Leu548Val) c.2290C>G (p.Leu764Val) c.1864C>G (p.Leu622Val) c.2380-97C>G (n.2380-97C>G) | |
| 16 | g.53470649C>T | CA395913607 | RBL2 | c.2512C>T (p.Leu838Phe) n.4303C>T n.2211C>T c.1642C>T (p.Leu548Phe) c.2290C>T (p.Leu764Phe) c.1864C>T (p.Leu622Phe) c.2380-97C>T (n.2380-97C>T) | gnomAD v4 |
| 16 | g.53470650T>A | CA395913610 | RBL2 | c.2513T>A (p.Leu838His) n.4304T>A n.2212T>A c.1643T>A (p.Leu548His) c.2291T>A (p.Leu764His) c.1865T>A (p.Leu622His) c.2380-96T>A (n.2380-96T>A) | |
| 16 | g.53470650T>C | CA395913608 | RBL2 | c.2513T>C (p.Leu838Pro) n.4304T>C n.2212T>C c.1643T>C (p.Leu548Pro) c.2291T>C (p.Leu764Pro) c.1865T>C (p.Leu622Pro) c.2380-96T>C (n.2380-96T>C) | |
| 16 | g.53470650T>G | CA395913609 | RBL2 | c.2513T>G (p.Leu838Arg) n.4304T>G n.2212T>G c.1643T>G (p.Leu548Arg) c.2291T>G (p.Leu764Arg) c.1865T>G (p.Leu622Arg) c.2380-96T>G (n.2380-96T>G) | |
| 16 | g.53470651T>A | CA495784083 | RBL2 | c.2514T>A (p.Leu838=) n.4305T>A n.2213T>A c.1644T>A (p.Leu548=) c.2292T>A (p.Leu764=) c.1866T>A (p.Leu622=) c.2380-95T>A (n.2380-95T>A) | |
| 16 | g.53470651T>C | CA495784084 | RBL2 | c.2514T>C (p.Leu838=) n.4305T>C n.2213T>C c.1644T>C (p.Leu548=) c.2292T>C (p.Leu764=) c.1866T>C (p.Leu622=) c.2380-95T>C (n.2380-95T>C) | |
| 16 | g.53470651T>G | CA495784085 | RBL2 | c.2514T>G (p.Leu838=) n.4305T>G n.2213T>G c.1644T>G (p.Leu548=) c.2292T>G (p.Leu764=) c.1866T>G (p.Leu622=) c.2380-95T>G (n.2380-95T>G) | |
| 16 | g.53470652T>A | CA395913611 | RBL2 | c.2515T>A (p.Phe839Ile) n.4306T>A n.2214T>A c.1645T>A (p.Phe549Ile) c.2293T>A (p.Phe765Ile) c.1867T>A (p.Phe623Ile) c.2380-94T>A (n.2380-94T>A) | |
| 16 | g.53470652T>C | CA395913612 | RBL2 | c.2515T>C (p.Phe839Leu) n.4306T>C n.2214T>C c.1645T>C (p.Phe549Leu) c.2293T>C (p.Phe765Leu) c.1867T>C (p.Phe623Leu) c.2380-94T>C (n.2380-94T>C) | |
| 16 | g.53470652T>G | CA395913613 | RBL2 | c.2515T>G (p.Phe839Val) n.4306T>G n.2214T>G c.1645T>G (p.Phe549Val) c.2293T>G (p.Phe765Val) c.1867T>G (p.Phe623Val) c.2380-94T>G (n.2380-94T>G) | |
| 16 | g.53470653T>A | CA395913614 | RBL2 | c.2516T>A (p.Phe839Tyr) n.4307T>A n.2215T>A c.1646T>A (p.Phe549Tyr) c.2294T>A (p.Phe765Tyr) c.1868T>A (p.Phe623Tyr) c.2380-93T>A (n.2380-93T>A) | |
| 16 | g.53470653T>C | CA395913615 | RBL2 | c.2516T>C (p.Phe839Ser) n.4307T>C n.2215T>C c.1646T>C (p.Phe549Ser) c.2294T>C (p.Phe765Ser) c.1868T>C (p.Phe623Ser) c.2380-93T>C (n.2380-93T>C) | |
| 16 | g.53470653T>G | CA395913616 | RBL2 | c.2516T>G (p.Phe839Cys) n.4307T>G n.2215T>G c.1646T>G (p.Phe549Cys) c.2294T>G (p.Phe765Cys) c.1868T>G (p.Phe623Cys) c.2380-93T>G (n.2380-93T>G) | |
| 16 | g.53470654C>A | CA395913617 | RBL2 | c.2517C>A (p.Phe839Leu) n.4308C>A n.2216C>A c.1647C>A (p.Phe549Leu) c.2295C>A (p.Phe765Leu) c.1869C>A (p.Phe623Leu) c.2380-92C>A (n.2380-92C>A) | |
| 16 | g.53470654C>G | CA395913618 | RBL2 | c.2517C>G (p.Phe839Leu) n.4308C>G n.2216C>G c.1647C>G (p.Phe549Leu) c.2295C>G (p.Phe765Leu) c.1869C>G (p.Phe623Leu) c.2380-92C>G (n.2380-92C>G) | |
| 16 | g.53470654C>T | CA495784090 | RBL2 | c.2517C>T (p.Phe839=) n.4308C>T n.2216C>T c.1647C>T (p.Phe549=) c.2295C>T (p.Phe765=) c.1869C>T (p.Phe623=) c.2380-92C>T (n.2380-92C>T) | |
| 16 | g.53470655T>A | CA395913619 | RBL2 | c.2518T>A (p.Phe840Ile) n.4309T>A n.2217T>A c.1648T>A (p.Phe550Ile) c.2296T>A (p.Phe766Ile) c.1870T>A (p.Phe624Ile) c.2380-91T>A (n.2380-91T>A) | |
| 16 | g.53470655T>C | CA395913620 | RBL2 | c.2518T>C (p.Phe840Leu) n.4309T>C n.2217T>C c.1648T>C (p.Phe550Leu) c.2296T>C (p.Phe766Leu) c.1870T>C (p.Phe624Leu) c.2380-91T>C (n.2380-91T>C) | |
| 16 | g.53470655T>G | CA395913621 | RBL2 | c.2518T>G (p.Phe840Val) n.4309T>G n.2217T>G c.1648T>G (p.Phe550Val) c.2296T>G (p.Phe766Val) c.1870T>G (p.Phe624Val) c.2380-91T>G (n.2380-91T>G) | |
| 16 | g.53470656T>A | CA395913624 | RBL2 | c.2519T>A (p.Phe840Tyr) n.4310T>A n.2218T>A c.1649T>A (p.Phe550Tyr) c.2297T>A (p.Phe766Tyr) c.1871T>A (p.Phe624Tyr) c.2380-90T>A (n.2380-90T>A) | |
| 16 | g.53470656T>C | CA395913623 | RBL2 | c.2519T>C (p.Phe840Ser) n.4310T>C n.2218T>C c.1649T>C (p.Phe550Ser) c.2297T>C (p.Phe766Ser) c.1871T>C (p.Phe624Ser) c.2380-90T>C (n.2380-90T>C) | |
| 16 | g.53470656T>G | CA395913622 | RBL2 | c.2519T>G (p.Phe840Cys) n.4310T>G n.2218T>G c.1649T>G (p.Phe550Cys) c.2297T>G (p.Phe766Cys) c.1871T>G (p.Phe624Cys) c.2380-90T>G (n.2380-90T>G) | gnomAD v4 |
| 16 | g.53470657T>A | CA395913625 | RBL2 | c.2520T>A (p.Phe840Leu) n.4311T>A n.2219T>A c.1650T>A (p.Phe550Leu) c.2298T>A (p.Phe766Leu) c.1872T>A (p.Phe624Leu) c.2380-89T>A (n.2380-89T>A) | |
| 16 | g.53470657T>C | CA495784092 | RBL2 | c.2520T>C (p.Phe840=) n.4311T>C n.2219T>C c.1650T>C (p.Phe550=) c.2298T>C (p.Phe766=) c.1872T>C (p.Phe624=) c.2380-89T>C (n.2380-89T>C) | |
| 16 | g.53470657T>G | CA395913626 | RBL2 | c.2520T>G (p.Phe840Leu) n.4311T>G n.2219T>G c.1650T>G (p.Phe550Leu) c.2298T>G (p.Phe766Leu) c.1872T>G (p.Phe624Leu) c.2380-89T>G (n.2380-89T>G) | |
| 16 | g.53470658A>C | CA495784094 | RBL2 | c.2521A>C (p.Arg841=) n.4312A>C n.2220A>C c.1651A>C (p.Arg551=) c.2299A>C (p.Arg767=) c.1873A>C (p.Arg625=) c.2380-88A>C (n.2380-88A>C) | |
| 16 | g.53470658A>G | CA395913627 | RBL2 | c.2521A>G (p.Arg841Gly) n.4312A>G n.2220A>G c.1651A>G (p.Arg551Gly) c.2299A>G (p.Arg767Gly) c.1873A>G (p.Arg625Gly) c.2380-88A>G (n.2380-88A>G) | |
| 16 | g.53470658A>T | CA395913628 | RBL2 | c.2521A>T (p.Arg841Ter) n.4312A>T n.2220A>T c.1651A>T (p.Arg551Ter) c.2299A>T (p.Arg767Ter) c.1873A>T (p.Arg625Ter) c.2380-88A>T (n.2380-88A>T) | |
| 16 | g.53470659G>A | CA395913629 | RBL2 | c.2522G>A (p.Arg841Lys) n.4313G>A n.2221G>A c.1652G>A (p.Arg551Lys) c.2300G>A (p.Arg767Lys) c.1874G>A (p.Arg625Lys) c.2380-87G>A (n.2380-87G>A) | |
| 16 | g.53470659G>C | CA395913630 | RBL2 | c.2522G>C (p.Arg841Thr) n.4313G>C n.2221G>C c.1652G>C (p.Arg551Thr) c.2300G>C (p.Arg767Thr) c.1874G>C (p.Arg625Thr) c.2380-87G>C (n.2380-87G>C) | |
| 16 | g.53470659G>T | CA395913631 | RBL2 | c.2522G>T (p.Arg841Ile) n.4313G>T n.2221G>T c.1652G>T (p.Arg551Ile) c.2300G>T (p.Arg767Ile) c.1874G>T (p.Arg625Ile) c.2380-87G>T (n.2380-87G>T) | |
| 16 | g.53470660A>C | CA395913632 | RBL2 | c.2523A>C (p.Arg841Ser) n.4314A>C n.2222A>C c.1653A>C (p.Arg551Ser) c.2301A>C (p.Arg767Ser) c.1875A>C (p.Arg625Ser) c.2380-86A>C (n.2380-86A>C) |