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.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)
16g.53470632A>TCA395913571RBL2c.2495A>T (p.Lys832Met)
n.4286A>T
n.2194A>T
c.1625A>T (p.Lys542Met)
c.2273A>T (p.Lys758Met)
c.1847A>T (p.Lys616Met)
c.2380-114A>T (n.2380-114A>T)
16g.53470633G>ACA495784052RBL2c.2496G>A (p.Lys832=)
n.4287G>A
n.2195G>A
c.1626G>A (p.Lys542=)
c.2274G>A (p.Lys758=)
c.1848G>A (p.Lys616=)
c.2380-113G>A (n.2380-113G>A)
 gnomAD v4
16g.53470633G>CCA395913573RBL2c.2496G>C (p.Lys832Asn)
n.4287G>C
n.2195G>C
c.1626G>C (p.Lys542Asn)
c.2274G>C (p.Lys758Asn)
c.1848G>C (p.Lys616Asn)
c.2380-113G>C (n.2380-113G>C)
16g.53470633G=CA2223143502RBL2c.2496G= (p.Lys832=)
n.4287G=
n.2195G=
c.1626G= (p.Lys542=)
c.2274G= (p.Lys758=)
c.1848G= (p.Lys616=)
c.2380-113G= (n.2380-113G=)
16g.53470633G>TCA395913572RBL2c.2496G>T (p.Lys832Asn)
n.4287G>T
n.2195G>T
c.1626G>T (p.Lys542Asn)
c.2274G>T (p.Lys758Asn)
c.1848G>T (p.Lys616Asn)
c.2380-113G>T (n.2380-113G>T)
 dbSNP gnomAD v4
16g.53470634A>CCA395913574RBL2c.2497A>C (p.Thr833Pro)
n.4288A>C
n.2196A>C
c.1627A>C (p.Thr543Pro)
c.2275A>C (p.Thr759Pro)
c.1849A>C (p.Thr617Pro)
c.2380-112A>C (n.2380-112A>C)
16g.53470634A>GCA395913575RBL2c.2497A>G (p.Thr833Ala)
n.4288A>G
n.2196A>G
c.1627A>G (p.Thr543Ala)
c.2275A>G (p.Thr759Ala)
c.1849A>G (p.Thr617Ala)
c.2380-112A>G (n.2380-112A>G)
16g.53470634A>TCA395913576RBL2c.2497A>T (p.Thr833Ser)
n.4288A>T
n.2196A>T
c.1627A>T (p.Thr543Ser)
c.2275A>T (p.Thr759Ser)
c.1849A>T (p.Thr617Ser)
c.2380-112A>T (n.2380-112A>T)
16g.53470635C>ACA395913577RBL2c.2498C>A (p.Thr833Asn)
n.4289C>A
n.2197C>A
c.1628C>A (p.Thr543Asn)
c.2276C>A (p.Thr759Asn)
c.1850C>A (p.Thr617Asn)
c.2380-111C>A (n.2380-111C>A)
16g.53470635C=CA2223143505RBL2c.2498C= (p.Thr833=)
n.4289C=
n.2197C=
c.1628C= (p.Thr543=)
c.2276C= (p.Thr759=)
c.1850C= (p.Thr617=)
c.2380-111C= (n.2380-111C=)
16g.53470635C>GCA395913578RBL2c.2498C>G (p.Thr833Ser)
n.4289C>G
n.2197C>G
c.1628C>G (p.Thr543Ser)
c.2276C>G (p.Thr759Ser)
c.1850C>G (p.Thr617Ser)
c.2380-111C>G (n.2380-111C>G)
16g.53470635C>TCA8056560RBL2c.2498C>T (p.Thr833Ile)
n.4289C>T
n.2197C>T
c.1628C>T (p.Thr543Ile)
c.2276C>T (p.Thr759Ile)
c.1850C>T (p.Thr617Ile)
c.2380-111C>T (n.2380-111C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.53470636C>ACA495784055RBL2c.2499C>A (p.Thr833=)
n.4290C>A
n.2198C>A
c.1629C>A (p.Thr543=)
c.2277C>A (p.Thr759=)
c.1851C>A (p.Thr617=)
c.2380-110C>A (n.2380-110C>A)
16g.53470636C>GCA495784056RBL2c.2499C>G (p.Thr833=)
n.4290C>G
n.2198C>G
c.1629C>G (p.Thr543=)
c.2277C>G (p.Thr759=)
c.1851C>G (p.Thr617=)
c.2380-110C>G (n.2380-110C>G)
16g.53470636C>TCA495784057RBL2c.2499C>T (p.Thr833=)
n.4290C>T
n.2198C>T
c.1629C>T (p.Thr543=)
c.2277C>T (p.Thr759=)
c.1851C>T (p.Thr617=)
c.2380-110C>T (n.2380-110C>T)
16g.53470637A>CCA395913581RBL2c.2500A>C (p.Ser834Arg)
n.4291A>C
n.2199A>C
c.1630A>C (p.Ser544Arg)
c.2278A>C (p.Ser760Arg)
c.1852A>C (p.Ser618Arg)
c.2380-109A>C (n.2380-109A>C)
16g.53470637A>GCA395913579RBL2c.2500A>G (p.Ser834Gly)
n.4291A>G
n.2199A>G
c.1630A>G (p.Ser544Gly)
c.2278A>G (p.Ser760Gly)
c.1852A>G (p.Ser618Gly)
c.2380-109A>G (n.2380-109A>G)
16g.53470637A>TCA395913580RBL2c.2500A>T (p.Ser834Cys)
n.4291A>T
n.2199A>T
c.1630A>T (p.Ser544Cys)
c.2278A>T (p.Ser760Cys)
c.1852A>T (p.Ser618Cys)
c.2380-109A>T (n.2380-109A>T)
16g.53470638G>ACA395913582RBL2c.2501G>A (p.Ser834Asn)
n.4292G>A
n.2200G>A
c.1631G>A (p.Ser544Asn)
c.2279G>A (p.Ser760Asn)
c.1853G>A (p.Ser618Asn)
c.2380-108G>A (n.2380-108G>A)
16g.53470638G>CCA395913583RBL2c.2501G>C (p.Ser834Thr)
n.4292G>C
n.2200G>C
c.1631G>C (p.Ser544Thr)
c.2279G>C (p.Ser760Thr)
c.1853G>C (p.Ser618Thr)
c.2380-108G>C (n.2380-108G>C)
16g.53470638G>TCA395913584RBL2c.2501G>T (p.Ser834Ile)
n.4292G>T
n.2200G>T
c.1631G>T (p.Ser544Ile)
c.2279G>T (p.Ser760Ile)
c.1853G>T (p.Ser618Ile)
c.2380-108G>T (n.2380-108G>T)
16g.53470639C>ACA395913585RBL2c.2502C>A (p.Ser834Arg)
n.4293C>A
n.2201C>A
c.1632C>A (p.Ser544Arg)
c.2280C>A (p.Ser760Arg)
c.1854C>A (p.Ser618Arg)
c.2380-107C>A (n.2380-107C>A)
16g.53470639C>GCA395913586RBL2c.2502C>G (p.Ser834Arg)
n.4293C>G
n.2201C>G
c.1632C>G (p.Ser544Arg)
c.2280C>G (p.Ser760Arg)
c.1854C>G (p.Ser618Arg)
c.2380-107C>G (n.2380-107C>G)
16g.53470639C>TCA495784060RBL2c.2502C>T (p.Ser834=)
n.4293C>T
n.2201C>T
c.1632C>T (p.Ser544=)
c.2280C>T (p.Ser760=)
c.1854C>T (p.Ser618=)
c.2380-107C>T (n.2380-107C>T)
16g.53470640T>ACA395913587RBL2c.2503T>A (p.Ser835Thr)
n.4294T>A
n.2202T>A
c.1633T>A (p.Ser545Thr)
c.2281T>A (p.Ser761Thr)
c.1855T>A (p.Ser619Thr)
c.2380-106T>A (n.2380-106T>A)
16g.53470640T>CCA395913588RBL2c.2503T>C (p.Ser835Pro)
n.4294T>C
n.2202T>C
c.1633T>C (p.Ser545Pro)
c.2281T>C (p.Ser761Pro)
c.1855T>C (p.Ser619Pro)
c.2380-106T>C (n.2380-106T>C)
16g.53470640T>GCA395913589RBL2c.2503T>G (p.Ser835Ala)
n.4294T>G
n.2202T>G
c.1633T>G (p.Ser545Ala)
c.2281T>G (p.Ser761Ala)
c.1855T>G (p.Ser619Ala)
c.2380-106T>G (n.2380-106T>G)
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

Number of alleles fetched