Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.53465439_53470922delCA2741808828RBL2c.1700_2703del
n.1839_4494del
n.1399_2402del
c.830_1833del
c.1478_2481del
c.1052_2055del
c.1700_2556del
 ClinVar
16g.53470641C>ACA395913590RBL2c.2504C>A (p.Ser835Tyr)
n.4295C>A
n.2203C>A
c.1634C>A (p.Ser545Tyr)
c.2282C>A (p.Ser761Tyr)
c.1856C>A (p.Ser619Tyr)
c.2380-105C>A (n.2380-105C>A)
16g.53470641C=CA2223143510RBL2c.2504C= (p.Ser835=)
n.4295C=
n.2203C=
c.1634C= (p.Ser545=)
c.2282C= (p.Ser761=)
c.1856C= (p.Ser619=)
c.2380-105C= (n.2380-105C=)
16g.53470641C>GCA395913591RBL2c.2504C>G (p.Ser835Cys)
n.4295C>G
n.2203C>G
c.1634C>G (p.Ser545Cys)
c.2282C>G (p.Ser761Cys)
c.1856C>G (p.Ser619Cys)
c.2380-105C>G (n.2380-105C>G)
 gnomAD v4
16g.53470641C>TCA395913592RBL2c.2504C>T (p.Ser835Phe)
n.4295C>T
n.2203C>T
c.1634C>T (p.Ser545Phe)
c.2282C>T (p.Ser761Phe)
c.1856C>T (p.Ser619Phe)
c.2380-105C>T (n.2380-105C>T)
16g.53470642T>ACA495784067RBL2c.2505T>A (p.Ser835=)
n.4296T>A
n.2204T>A
c.1635T>A (p.Ser545=)
c.2283T>A (p.Ser761=)
c.1857T>A (p.Ser619=)
c.2380-104T>A (n.2380-104T>A)
16g.53470642T>CCA495784063RBL2c.2505T>C (p.Ser835=)
n.4296T>C
n.2204T>C
c.1635T>C (p.Ser545=)
c.2283T>C (p.Ser761=)
c.1857T>C (p.Ser619=)
c.2380-104T>C (n.2380-104T>C)
 dbSNP gnomAD v3 gnomAD v4
16g.53470642T>GCA495784064RBL2c.2505T>G (p.Ser835=)
n.4296T>G
n.2204T>G
c.1635T>G (p.Ser545=)
c.2283T>G (p.Ser761=)
c.1857T>G (p.Ser619=)
c.2380-104T>G (n.2380-104T>G)
16g.53470642T=CA2223143513RBL2c.2505T= (p.Ser835=)
n.4296T=
n.2204T=
c.1635T= (p.Ser545=)
c.2283T= (p.Ser761=)
c.1857T= (p.Ser619=)
c.2380-104T= (n.2380-104T=)
16g.53470644dupCA977418479RBL2c.2507dup (p.Leu836PhefsTer6)
n.4298dup
n.2206dup
c.1637dup (p.Leu546PhefsTer6)
c.2285dup (p.Leu762PhefsTer6)
c.1859dup (p.Leu620PhefsTer6)
c.2380-102dup (n.2380-102dup)
 dbSNP gnomAD v3 gnomAD v4
16g.53470643T>ACA395913593RBL2c.2506T>A (p.Leu836Ile)
n.4297T>A
n.2205T>A
c.1636T>A (p.Leu546Ile)
c.2284T>A (p.Leu762Ile)
c.1858T>A (p.Leu620Ile)
c.2380-103T>A (n.2380-103T>A)
16g.53470643T>CCA495784069RBL2c.2506T>C (p.Leu836=)
n.4297T>C
n.2205T>C
c.1636T>C (p.Leu546=)
c.2284T>C (p.Leu762=)
c.1858T>C (p.Leu620=)
c.2380-103T>C (n.2380-103T>C)
16g.53470643T>GCA395913594RBL2c.2506T>G (p.Leu836Val)
n.4297T>G
n.2205T>G
c.1636T>G (p.Leu546Val)
c.2284T>G (p.Leu762Val)
c.1858T>G (p.Leu620Val)
c.2380-103T>G (n.2380-103T>G)
16g.53470644T>ACA395913595RBL2c.2507T>A (p.Leu836Ter)
n.4298T>A
n.2206T>A
c.1637T>A (p.Leu546Ter)
c.2285T>A (p.Leu762Ter)
c.1859T>A (p.Leu620Ter)
c.2380-102T>A (n.2380-102T>A)
16g.53470644T>CCA395913597RBL2c.2507T>C (p.Leu836Ser)
n.4298T>C
n.2206T>C
c.1637T>C (p.Leu546Ser)
c.2285T>C (p.Leu762Ser)
c.1859T>C (p.Leu620Ser)
c.2380-102T>C (n.2380-102T>C)
16g.53470644T>GCA395913596RBL2c.2507T>G (p.Leu836Ter)
n.4298T>G
n.2206T>G
c.1637T>G (p.Leu546Ter)
c.2285T>G (p.Leu762Ter)
c.1859T>G (p.Leu620Ter)
c.2380-102T>G (n.2380-102T>G)
16g.53470645A=CA2223143518RBL2c.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=)
16g.53470645A>CCA395913598RBL2c.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)
16g.53470645A>GCA495784073RBL2c.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
16g.53470645A>TCA395913599RBL2c.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)
16g.53470646T>ACA395913600RBL2c.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)
16g.53470646T>CCA395913601RBL2c.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)
16g.53470646T>GCA395913602RBL2c.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)
16g.53470647C>ACA395913603RBL2c.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)
16g.53470647C=CA2223143522RBL2c.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=)
16g.53470647C>GCA395913604RBL2c.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)
16g.53470647C>TCA8056561RBL2c.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
16g.53470648G>ACA8056562RBL2c.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
16g.53470648G>CCA495784078RBL2c.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)
16g.53470648G=CA2223143528RBL2c.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=)
16g.53470648G>TCA495784079RBL2c.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)
16g.53470649C>ACA395913605RBL2c.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)
16g.53470649C>GCA395913606RBL2c.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)
16g.53470649C>TCA395913607RBL2c.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
16g.53470650T>ACA395913610RBL2c.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)
16g.53470650T>CCA395913608RBL2c.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)
16g.53470650T>GCA395913609RBL2c.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)
16g.53470651T>ACA495784083RBL2c.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)
16g.53470651T>CCA495784084RBL2c.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)
16g.53470651T>GCA495784085RBL2c.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)
16g.53470652T>ACA395913611RBL2c.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)
16g.53470652T>CCA395913612RBL2c.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)
16g.53470652T>GCA395913613RBL2c.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)
16g.53470653T>ACA395913614RBL2c.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)
16g.53470653T>CCA395913615RBL2c.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)
16g.53470653T>GCA395913616RBL2c.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)
16g.53470654C>ACA395913617RBL2c.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)
16g.53470654C>GCA395913618RBL2c.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)
16g.53470654C>TCA495784090RBL2c.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)
16g.53470655T>ACA395913619RBL2c.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)

Number of alleles fetched