| 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.53470804_53470809delinsATGAAT | CA2223143962 | RBL2 | c.2585_2590delinsATGAAT (p.Asp862=) n.4376_4381delinsATGAAT n.2284_2289delinsATGAAT c.1715_1720delinsATGAAT (p.Asp572=) c.2363_2368delinsATGAAT (p.Asp788=) c.1937_1942delinsATGAAT (p.Asp646=) c.2438_2443delinsATGAAT (p.Asp813=) | |
| 16 | g.53470808_53470812del | CA2223143994 | RBL2 | c.2589_2593del (p.Leu864GlufsTer8) n.4380_4384del n.2288_2292del c.1719_1723del (p.Leu574GlufsTer8) c.2367_2371del (p.Leu790GlufsTer8) c.1941_1945del (p.Leu648GlufsTer8) c.2442_2446del (p.Leu815GlufsTer8) | dbSNP gnomAD v4 |
| 16 | g.53470809T>A | CA395913786 | RBL2 | c.2590T>A (p.Leu864Met) n.4381T>A n.2289T>A c.1720T>A (p.Leu574Met) c.2368T>A (p.Leu790Met) c.1942T>A (p.Leu648Met) c.2443T>A (p.Leu815Met) | |
| 16 | g.53470809T>C | CA8056586 | RBL2 | c.2590T>C (p.Leu864=) n.4381T>C n.2289T>C c.1720T>C (p.Leu574=) c.2368T>C (p.Leu790=) c.1942T>C (p.Leu648=) c.2443T>C (p.Leu815=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.53470809T>G | CA395913787 | RBL2 | c.2590T>G (p.Leu864Val) n.4381T>G n.2289T>G c.1720T>G (p.Leu574Val) c.2368T>G (p.Leu790Val) c.1942T>G (p.Leu648Val) c.2443T>G (p.Leu815Val) | gnomAD v4 |
| 16 | g.53470809T= | CA2223144002 | RBL2 | c.2590T= (p.Leu864=) n.4381T= n.2289T= c.1720T= (p.Leu574=) c.2368T= (p.Leu790=) c.1942T= (p.Leu648=) c.2443T= (p.Leu815=) | |
| 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.53470810T>A | CA395913788 | RBL2 | c.2591T>A (p.Leu864Ter) n.4382T>A n.2290T>A c.1721T>A (p.Leu574Ter) c.2369T>A (p.Leu790Ter) c.1943T>A (p.Leu648Ter) c.2444T>A (p.Leu815Ter) | gnomAD v4 |
| 16 | g.53470810T>C | CA395913789 | RBL2 | c.2591T>C (p.Leu864Ser) n.4382T>C n.2290T>C c.1721T>C (p.Leu574Ser) c.2369T>C (p.Leu790Ser) c.1943T>C (p.Leu648Ser) c.2444T>C (p.Leu815Ser) | |
| 16 | g.53470810T>G | CA395913790 | RBL2 | c.2591T>G (p.Leu864Trp) n.4382T>G n.2290T>G c.1721T>G (p.Leu574Trp) c.2369T>G (p.Leu790Trp) c.1943T>G (p.Leu648Trp) c.2444T>G (p.Leu815Trp) | |
| 16 | g.53470811G>A | CA495783736 | RBL2 | c.2592G>A (p.Leu864=) n.4383G>A n.2291G>A c.1722G>A (p.Leu574=) c.2370G>A (p.Leu790=) c.1944G>A (p.Leu648=) c.2445G>A (p.Leu815=) | gnomAD v4 |
| 16 | g.53470811G>C | CA395913791 | RBL2 | c.2592G>C (p.Leu864Phe) n.4383G>C n.2291G>C c.1722G>C (p.Leu574Phe) c.2370G>C (p.Leu790Phe) c.1944G>C (p.Leu648Phe) c.2445G>C (p.Leu815Phe) | dbSNP |
| 16 | g.53470811G>T | CA395913792 | RBL2 | c.2592G>T (p.Leu864Phe) n.4383G>T n.2291G>T c.1722G>T (p.Leu574Phe) c.2370G>T (p.Leu790Phe) c.1944G>T (p.Leu648Phe) c.2445G>T (p.Leu815Phe) | |
| 16 | g.53470812A>C | CA495783737 | RBL2 | c.2593A>C (p.Arg865=) n.4384A>C n.2292A>C c.1723A>C (p.Arg575=) c.2371A>C (p.Arg791=) c.1945A>C (p.Arg649=) c.2446A>C (p.Arg816=) | |
| 16 | g.53470812A>G | CA395913793 | RBL2 | c.2593A>G (p.Arg865Gly) n.4384A>G n.2292A>G c.1723A>G (p.Arg575Gly) c.2371A>G (p.Arg791Gly) c.1945A>G (p.Arg649Gly) c.2446A>G (p.Arg816Gly) | |
| 16 | g.53470812A>T | CA395913794 | RBL2 | c.2593A>T (p.Arg865Trp) n.4384A>T n.2292A>T c.1723A>T (p.Arg575Trp) c.2371A>T (p.Arg791Trp) c.1945A>T (p.Arg649Trp) c.2446A>T (p.Arg816Trp) | |
| 16 | g.53470813G>A | CA395913795 | RBL2 | c.2594G>A (p.Arg865Lys) n.4385G>A n.2293G>A c.1724G>A (p.Arg575Lys) c.2372G>A (p.Arg791Lys) c.1946G>A (p.Arg649Lys) c.2447G>A (p.Arg816Lys) | gnomAD v4 |
| 16 | g.53470813G>C | CA395913796 | RBL2 | c.2594G>C (p.Arg865Thr) n.4385G>C n.2293G>C c.1724G>C (p.Arg575Thr) c.2372G>C (p.Arg791Thr) c.1946G>C (p.Arg649Thr) c.2447G>C (p.Arg816Thr) | |
| 16 | g.53470813G>T | CA395913797 | RBL2 | c.2594G>T (p.Arg865Met) n.4385G>T n.2293G>T c.1724G>T (p.Arg575Met) c.2372G>T (p.Arg791Met) c.1946G>T (p.Arg649Met) c.2447G>T (p.Arg816Met) | |
| 16 | g.53470814G>A | CA281337105 | RBL2 | c.2595G>A (p.Arg865=) n.4386G>A n.2294G>A c.1725G>A (p.Arg575=) c.2373G>A (p.Arg791=) c.1947G>A (p.Arg649=) c.2448G>A (p.Arg816=) | dbSNP gnomAD v4 |
| 16 | g.53470814G>C | CA395913799 | RBL2 | c.2595G>C (p.Arg865Ser) n.4386G>C n.2294G>C c.1725G>C (p.Arg575Ser) c.2373G>C (p.Arg791Ser) c.1947G>C (p.Arg649Ser) c.2448G>C (p.Arg816Ser) | |
| 16 | g.53470814G= | CA2223144009 | RBL2 | c.2595G= (p.Arg865=) n.4386G= n.2294G= c.1725G= (p.Arg575=) c.2373G= (p.Arg791=) c.1947G= (p.Arg649=) c.2448G= (p.Arg816=) | |
| 16 | g.53470814G>T | CA395913798 | RBL2 | c.2595G>T (p.Arg865Ser) n.4386G>T n.2294G>T c.1725G>T (p.Arg575Ser) c.2373G>T (p.Arg791Ser) c.1947G>T (p.Arg649Ser) c.2448G>T (p.Arg816Ser) | |
| 16 | g.53470815A>C | CA395913800 | RBL2 | c.2596A>C (p.Lys866Gln) n.4387A>C n.2295A>C c.1726A>C (p.Lys576Gln) c.2374A>C (p.Lys792Gln) c.1948A>C (p.Lys650Gln) c.2449A>C (p.Lys817Gln) | |
| 16 | g.53470815A>G | CA395913801 | RBL2 | c.2596A>G (p.Lys866Glu) n.4387A>G n.2295A>G c.1726A>G (p.Lys576Glu) c.2374A>G (p.Lys792Glu) c.1948A>G (p.Lys650Glu) c.2449A>G (p.Lys817Glu) | gnomAD v4 |
| 16 | g.53470815A>T | CA395913802 | RBL2 | c.2596A>T (p.Lys866Ter) n.4387A>T n.2295A>T c.1726A>T (p.Lys576Ter) c.2374A>T (p.Lys792Ter) c.1948A>T (p.Lys650Ter) c.2449A>T (p.Lys817Ter) | |
| 16 | g.53470816A>C | CA395913803 | RBL2 | c.2597A>C (p.Lys866Thr) n.4388A>C n.2296A>C c.1727A>C (p.Lys576Thr) c.2375A>C (p.Lys792Thr) c.1949A>C (p.Lys650Thr) c.2450A>C (p.Lys817Thr) | |
| 16 | g.53470816A>G | CA395913804 | RBL2 | c.2597A>G (p.Lys866Arg) n.4388A>G n.2296A>G c.1727A>G (p.Lys576Arg) c.2375A>G (p.Lys792Arg) c.1949A>G (p.Lys650Arg) c.2450A>G (p.Lys817Arg) | |
| 16 | g.53470816A>T | CA395913805 | RBL2 | c.2597A>T (p.Lys866Ile) n.4388A>T n.2296A>T c.1727A>T (p.Lys576Ile) c.2375A>T (p.Lys792Ile) c.1949A>T (p.Lys650Ile) c.2450A>T (p.Lys817Ile) | |
| 16 | g.53470817A>C | CA395913806 | RBL2 | c.2598A>C (p.Lys866Asn) n.4389A>C n.2297A>C c.1728A>C (p.Lys576Asn) c.2376A>C (p.Lys792Asn) c.1950A>C (p.Lys650Asn) c.2451A>C (p.Lys817Asn) | |
| 16 | g.53470817A>G | CA495783741 | RBL2 | c.2598A>G (p.Lys866=) n.4389A>G n.2297A>G c.1728A>G (p.Lys576=) c.2376A>G (p.Lys792=) c.1950A>G (p.Lys650=) c.2451A>G (p.Lys817=) | |
| 16 | g.53470817A>T | CA395913807 | RBL2 | c.2598A>T (p.Lys866Asn) n.4389A>T n.2297A>T c.1728A>T (p.Lys576Asn) c.2376A>T (p.Lys792Asn) c.1950A>T (p.Lys650Asn) c.2451A>T (p.Lys817Asn) | |
| 16 | g.53470818A>C | CA395913808 | RBL2 | c.2599A>C (p.Lys867Gln) n.4390A>C n.2298A>C c.1729A>C (p.Lys577Gln) c.2377A>C (p.Lys793Gln) c.1951A>C (p.Lys651Gln) c.2452A>C (p.Lys818Gln) | |
| 16 | g.53470818A>G | CA395913809 | RBL2 | c.2599A>G (p.Lys867Glu) n.4390A>G n.2298A>G c.1729A>G (p.Lys577Glu) c.2377A>G (p.Lys793Glu) c.1951A>G (p.Lys651Glu) c.2452A>G (p.Lys818Glu) | |
| 16 | g.53470818A>T | CA395913810 | RBL2 | c.2599A>T (p.Lys867Ter) n.4390A>T n.2298A>T c.1729A>T (p.Lys577Ter) c.2377A>T (p.Lys793Ter) c.1951A>T (p.Lys651Ter) c.2452A>T (p.Lys818Ter) | |
| 16 | g.53470819A>C | CA395913811 | RBL2 | c.2600A>C (p.Lys867Thr) n.4391A>C n.2299A>C c.1730A>C (p.Lys577Thr) c.2378A>C (p.Lys793Thr) c.1952A>C (p.Lys651Thr) c.2453A>C (p.Lys818Thr) | |
| 16 | g.53470819A>G | CA395913812 | RBL2 | c.2600A>G (p.Lys867Arg) n.4391A>G n.2299A>G c.1730A>G (p.Lys577Arg) c.2378A>G (p.Lys793Arg) c.1952A>G (p.Lys651Arg) c.2453A>G (p.Lys818Arg) | gnomAD v4 |
| 16 | g.53470819A>T | CA395913813 | RBL2 | c.2600A>T (p.Lys867Ile) n.4391A>T n.2299A>T c.1730A>T (p.Lys577Ile) c.2378A>T (p.Lys793Ile) c.1952A>T (p.Lys651Ile) c.2453A>T (p.Lys818Ile) | |
| 16 | g.53470820A>C | CA395913815 | RBL2 | c.2601A>C (p.Lys867Asn) n.4392A>C n.2300A>C c.1731A>C (p.Lys577Asn) c.2379A>C (p.Lys793Asn) c.1953A>C (p.Lys651Asn) c.2454A>C (p.Lys818Asn) | |
| 16 | g.53470820A>G | CA495783745 | RBL2 | c.2601A>G (p.Lys867=) n.4392A>G n.2300A>G c.1731A>G (p.Lys577=) c.2379A>G (p.Lys793=) c.1953A>G (p.Lys651=) c.2454A>G (p.Lys818=) | |
| 16 | g.53470820A>T | CA395913814 | RBL2 | c.2601A>T (p.Lys867Asn) n.4392A>T n.2300A>T c.1731A>T (p.Lys577Asn) c.2379A>T (p.Lys793Asn) c.1953A>T (p.Lys651Asn) c.2454A>T (p.Lys818Asn) | 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=) |