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.53470619A>CCA395913541RBL2c.2482A>C (p.Asn828His)
n.4273A>C
n.2181A>C
c.1612A>C (p.Asn538His)
c.2260A>C (p.Asn754His)
c.1834A>C (p.Asn612His)
c.2379+103A>C (n.2379+103A>C)
16g.53470619A>GCA395913542RBL2c.2482A>G (p.Asn828Asp)
n.4273A>G
n.2181A>G
c.1612A>G (p.Asn538Asp)
c.2260A>G (p.Asn754Asp)
c.1834A>G (p.Asn612Asp)
c.2379+103A>G (n.2379+103A>G)
16g.53470619A>TCA395913543RBL2c.2482A>T (p.Asn828Tyr)
n.4273A>T
n.2181A>T
c.1612A>T (p.Asn538Tyr)
c.2260A>T (p.Asn754Tyr)
c.1834A>T (p.Asn612Tyr)
c.2379+103A>T (n.2379+103A>T)
16g.53470620A>CCA395913544RBL2c.2483A>C (p.Asn828Thr)
n.4274A>C
n.2182A>C
c.1613A>C (p.Asn538Thr)
c.2261A>C (p.Asn754Thr)
c.1835A>C (p.Asn612Thr)
c.2379+104A>C (n.2379+104A>C)
16g.53470620A>GCA395913545RBL2c.2483A>G (p.Asn828Ser)
n.4274A>G
n.2182A>G
c.1613A>G (p.Asn538Ser)
c.2261A>G (p.Asn754Ser)
c.1835A>G (p.Asn612Ser)
c.2379+104A>G (n.2379+104A>G)
 gnomAD v4
16g.53470620A>TCA395913546RBL2c.2483A>T (p.Asn828Ile)
n.4274A>T
n.2182A>T
c.1613A>T (p.Asn538Ile)
c.2261A>T (p.Asn754Ile)
c.1835A>T (p.Asn612Ile)
c.2379+104A>T (n.2379+104A>T)
16g.53470621T>ACA395913547RBL2c.2484T>A (p.Asn828Lys)
n.4275T>A
n.2183T>A
c.1614T>A (p.Asn538Lys)
c.2262T>A (p.Asn754Lys)
c.1836T>A (p.Asn612Lys)
c.2379+105T>A (n.2379+105T>A)
16g.53470621T>CCA8056557RBL2c.2484T>C (p.Asn828=)
n.4275T>C
n.2183T>C
c.1614T>C (p.Asn538=)
c.2262T>C (p.Asn754=)
c.1836T>C (p.Asn612=)
c.2379+105T>C (n.2379+105T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.53470621T>GCA395913548RBL2c.2484T>G (p.Asn828Lys)
n.4275T>G
n.2183T>G
c.1614T>G (p.Asn538Lys)
c.2262T>G (p.Asn754Lys)
c.1836T>G (p.Asn612Lys)
c.2379+105T>G (n.2379+105T>G)
16g.53470621T=CA2223143420RBL2c.2484T= (p.Asn828=)
n.4275T=
n.2183T=
c.1614T= (p.Asn538=)
c.2262T= (p.Asn754=)
c.1836T= (p.Asn612=)
c.2379+105T= (n.2379+105T=)
16g.53470622A>CCA495784037RBL2c.2485A>C (p.Arg829=)
n.4276A>C
n.2184A>C
c.1615A>C (p.Arg539=)
c.2263A>C (p.Arg755=)
c.1837A>C (p.Arg613=)
c.2379+106A>C (n.2379+106A>C)
16g.53470622A>GCA395913549RBL2c.2485A>G (p.Arg829Gly)
n.4276A>G
n.2184A>G
c.1615A>G (p.Arg539Gly)
c.2263A>G (p.Arg755Gly)
c.1837A>G (p.Arg613Gly)
c.2379+106A>G (n.2379+106A>G)
 gnomAD v4
16g.53470622A>TCA395913550RBL2c.2485A>T (p.Arg829Ter)
n.4276A>T
n.2184A>T
c.1615A>T (p.Arg539Ter)
c.2263A>T (p.Arg755Ter)
c.1837A>T (p.Arg613Ter)
c.2379+106A>T (n.2379+106A>T)
16g.53470623G>ACA395913553RBL2c.2486G>A (p.Arg829Lys)
n.4277G>A
n.2185G>A
c.1616G>A (p.Arg539Lys)
c.2264G>A (p.Arg755Lys)
c.1838G>A (p.Arg613Lys)
c.2379+107G>A (n.2379+107G>A)
 COSMIC
16g.53470623G>CCA395913552RBL2c.2486G>C (p.Arg829Thr)
n.4277G>C
n.2185G>C
c.1616G>C (p.Arg539Thr)
c.2264G>C (p.Arg755Thr)
c.1838G>C (p.Arg613Thr)
c.2379+107G>C (n.2379+107G>C)
 dbSNP
16g.53470623G=CA2223143441RBL2c.2486G= (p.Arg829=)
n.4277G=
n.2185G=
c.1616G= (p.Arg539=)
c.2264G= (p.Arg755=)
c.1838G= (p.Arg613=)
c.2379+107G= (n.2379+107G=)
16g.53470623G>TCA395913551RBL2c.2486G>T (p.Arg829Ile)
n.4277G>T
n.2185G>T
c.1616G>T (p.Arg539Ile)
c.2264G>T (p.Arg755Ile)
c.1838G>T (p.Arg613Ile)
c.2379+107G>T (n.2379+107G>T)
16g.53470624A=CA2223143451RBL2c.2487A= (p.Arg829=)
n.4278A=
n.2186A=
c.1617A= (p.Arg539=)
c.2265A= (p.Arg755=)
c.1839A= (p.Arg613=)
c.2379+108A= (n.2379+108A=)
16g.53470624A>CCA395913554RBL2c.2487A>C (p.Arg829Ser)
n.4278A>C
n.2186A>C
c.1617A>C (p.Arg539Ser)
c.2265A>C (p.Arg755Ser)
c.1839A>C (p.Arg613Ser)
c.2379+108A>C (n.2379+108A>C)
16g.53470624A>GCA495784041RBL2c.2487A>G (p.Arg829=)
n.4278A>G
n.2186A>G
c.1617A>G (p.Arg539=)
c.2265A>G (p.Arg755=)
c.1839A>G (p.Arg613=)
c.2379+108A>G (n.2379+108A>G)
16g.53470624A>TCA8056558RBL2c.2487A>T (p.Arg829Ser)
n.4278A>T
n.2186A>T
c.1617A>T (p.Arg539Ser)
c.2265A>T (p.Arg755Ser)
c.1839A>T (p.Arg613Ser)
c.2379+108A>T (n.2379+108A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.53470625C>ACA8056559RBL2c.2488C>A (p.Pro830Thr)
n.4279C>A
n.2187C>A
c.1618C>A (p.Pro540Thr)
c.2266C>A (p.Pro756Thr)
c.1840C>A (p.Pro614Thr)
c.2379+109C>A (n.2379+109C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.53470625C=CA2223143461RBL2c.2488C= (p.Pro830=)
n.4279C=
n.2187C=
c.1618C= (p.Pro540=)
c.2266C= (p.Pro756=)
c.1840C= (p.Pro614=)
c.2379+109C= (n.2379+109C=)
16g.53470625C>GCA395913555RBL2c.2488C>G (p.Pro830Ala)
n.4279C>G
n.2187C>G
c.1618C>G (p.Pro540Ala)
c.2266C>G (p.Pro756Ala)
c.1840C>G (p.Pro614Ala)
c.2379+109C>G (n.2379+109C>G)
16g.53470625C>TCA395913556RBL2c.2488C>T (p.Pro830Ser)
n.4279C>T
n.2187C>T
c.1618C>T (p.Pro540Ser)
c.2266C>T (p.Pro756Ser)
c.1840C>T (p.Pro614Ser)
c.2379+109C>T (n.2379+109C>T)
16g.53470627delCA2633231657RBL2c.2490del (p.Arg831GlyfsTer16)
n.4281del
n.2189del
c.1620del (p.Arg541GlyfsTer16)
c.2268del (p.Arg757GlyfsTer16)
c.1842del (p.Arg615GlyfsTer16)
c.2379+111del (n.2379+111del)
 gnomAD v4
16g.53470626C>ACA395913557RBL2c.2489C>A (p.Pro830His)
n.4280C>A
n.2188C>A
c.1619C>A (p.Pro540His)
c.2267C>A (p.Pro756His)
c.1841C>A (p.Pro614His)
c.2379+110C>A (n.2379+110C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.53470626C=CA2223143479RBL2c.2489C= (p.Pro830=)
n.4280C=
n.2188C=
c.1619C= (p.Pro540=)
c.2267C= (p.Pro756=)
c.1841C= (p.Pro614=)
c.2379+110C= (n.2379+110C=)
16g.53470626C>GCA395913558RBL2c.2489C>G (p.Pro830Arg)
n.4280C>G
n.2188C>G
c.1619C>G (p.Pro540Arg)
c.2267C>G (p.Pro756Arg)
c.1841C>G (p.Pro614Arg)
c.2379+110C>G (n.2379+110C>G)
 gnomAD v4
16g.53470626C>TCA395913559RBL2c.2489C>T (p.Pro830Leu)
n.4280C>T
n.2188C>T
c.1619C>T (p.Pro540Leu)
c.2267C>T (p.Pro756Leu)
c.1841C>T (p.Pro614Leu)
c.2379+110C>T (n.2379+110C>T)
 gnomAD v4
16g.53470627C>ACA495784042RBL2c.2490C>A (p.Pro830=)
n.4281C>A
n.2189C>A
c.1620C>A (p.Pro540=)
c.2268C>A (p.Pro756=)
c.1842C>A (p.Pro614=)
c.2379+111C>A (n.2379+111C>A)
16g.53470627C>GCA495784045RBL2c.2490C>G (p.Pro830=)
n.4281C>G
n.2189C>G
c.1620C>G (p.Pro540=)
c.2268C>G (p.Pro756=)
c.1842C>G (p.Pro614=)
c.2379+111C>G (n.2379+111C>G)
16g.53470627C>TCA495784043RBL2c.2490C>T (p.Pro830=)
n.4281C>T
n.2189C>T
c.1620C>T (p.Pro540=)
c.2268C>T (p.Pro756=)
c.1842C>T (p.Pro614=)
c.2379+111C>T (n.2379+111C>T)
 gnomAD v4
16g.53470628A>CCA495784046RBL2c.2491A>C (p.Arg831=)
n.4282A>C
n.2190A>C
c.1621A>C (p.Arg541=)
c.2269A>C (p.Arg757=)
c.1843A>C (p.Arg615=)
c.2379+112A>C (n.2379+112A>C)
16g.53470628A>GCA395913560RBL2c.2491A>G (p.Arg831Gly)
n.4282A>G
n.2190A>G
c.1621A>G (p.Arg541Gly)
c.2269A>G (p.Arg757Gly)
c.1843A>G (p.Arg615Gly)
c.2379+112A>G (n.2379+112A>G)
16g.53470628A>TCA395913561RBL2c.2491A>T (p.Arg831Trp)
n.4282A>T
n.2190A>T
c.1621A>T (p.Arg541Trp)
c.2269A>T (p.Arg757Trp)
c.1843A>T (p.Arg615Trp)
c.2379+112A>T (n.2379+112A>T)
16g.53470629G>ACA395913562RBL2c.2492G>A (p.Arg831Lys)
n.4283G>A
n.2191G>A
c.1622G>A (p.Arg541Lys)
c.2270G>A (p.Arg757Lys)
c.1844G>A (p.Arg615Lys)
c.2379+113G>A (n.2379+113G>A)
16g.53470629G>CCA395913563RBL2c.2492G>C (p.Arg831Thr)
n.4283G>C
n.2191G>C
c.1622G>C (p.Arg541Thr)
c.2270G>C (p.Arg757Thr)
c.1844G>C (p.Arg615Thr)
c.2379+113G>C (n.2379+113G>C)
16g.53470629G>TCA395913564RBL2c.2492G>T (p.Arg831Met)
n.4283G>T
n.2191G>T
c.1622G>T (p.Arg541Met)
c.2270G>T (p.Arg757Met)
c.1844G>T (p.Arg615Met)
c.2379+113G>T (n.2379+113G>T)
16g.53470630G>ACA495784049RBL2c.2493G>A (p.Arg831=)
n.4284G>A
n.2192G>A
c.1623G>A (p.Arg541=)
c.2271G>A (p.Arg757=)
c.1845G>A (p.Arg615=)
c.2379+114G>A (n.2379+114G>A)
16g.53470630G>CCA395913565RBL2c.2493G>C (p.Arg831Ser)
n.4284G>C
n.2192G>C
c.1623G>C (p.Arg541Ser)
c.2271G>C (p.Arg757Ser)
c.1845G>C (p.Arg615Ser)
c.2379+114G>C (n.2379+114G>C)
16g.53470630G>TCA395913566RBL2c.2493G>T (p.Arg831Ser)
n.4284G>T
n.2192G>T
c.1623G>T (p.Arg541Ser)
c.2271G>T (p.Arg757Ser)
c.1845G>T (p.Arg615Ser)
c.2379+114G>T (n.2379+114G>T)
16g.53470631A=CA2223143489RBL2c.2494A= (p.Lys832=)
n.4285A=
n.2193A=
c.1624A= (p.Lys542=)
c.2272A= (p.Lys758=)
c.1846A= (p.Lys616=)
c.2380-115A= (n.2380-115A=)
16g.53470631A>CCA395913567RBL2c.2494A>C (p.Lys832Gln)
n.4285A>C
n.2193A>C
c.1624A>C (p.Lys542Gln)
c.2272A>C (p.Lys758Gln)
c.1846A>C (p.Lys616Gln)
c.2380-115A>C (n.2380-115A>C)
16g.53470631A>GCA281336933RBL2c.2494A>G (p.Lys832Glu)
n.4285A>G
n.2193A>G
c.1624A>G (p.Lys542Glu)
c.2272A>G (p.Lys758Glu)
c.1846A>G (p.Lys616Glu)
c.2380-115A>G (n.2380-115A>G)
 dbSNP gnomAD v3 gnomAD v4
16g.53470631A>TCA395913568RBL2c.2494A>T (p.Lys832Ter)
n.4285A>T
n.2193A>T
c.1624A>T (p.Lys542Ter)
c.2272A>T (p.Lys758Ter)
c.1846A>T (p.Lys616Ter)
c.2380-115A>T (n.2380-115A>T)
16g.53470632A=CA2223143496RBL2c.2495A= (p.Lys832=)
n.4286A=
n.2194A=
c.1625A= (p.Lys542=)
c.2273A= (p.Lys758=)
c.1847A= (p.Lys616=)
c.2380-114A= (n.2380-114A=)
16g.53470632A>CCA395913569RBL2c.2495A>C (p.Lys832Thr)
n.4286A>C
n.2194A>C
c.1625A>C (p.Lys542Thr)
c.2273A>C (p.Lys758Thr)
c.1847A>C (p.Lys616Thr)
c.2380-114A>C (n.2380-114A>C)
 dbSNP gnomAD v3 gnomAD v4
16g.53470632A>GCA395913570RBL2c.2495A>G (p.Lys832Arg)
n.4286A>G
n.2194A>G
c.1625A>G (p.Lys542Arg)
c.2273A>G (p.Lys758Arg)
c.1847A>G (p.Lys616Arg)
c.2380-114A>G (n.2380-114A>G)

Number of alleles fetched