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.53470745G>A | CA395913651 | RBL2 | c.2527-1G>A (n.2527-1G>A) n.4318-1G>A n.2226-1G>A c.1657-1G>A (n.1657-1G>A) c.2305-1G>A (n.2305-1G>A) c.1879-1G>A (n.1879-1G>A) c.2380-1G>A (n.2380-1G>A) | |
16 | g.53470745G>C | CA8056571 | RBL2 | c.2527-1G>C (n.2527-1G>C) n.4318-1G>C n.2226-1G>C c.1657-1G>C (n.1657-1G>C) c.2305-1G>C (n.2305-1G>C) c.1879-1G>C (n.1879-1G>C) c.2380-1G>C (n.2380-1G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.53470745G= | CA2223143789 | RBL2 | c.2527-1G= (n.2527-1G=) n.4318-1G= n.2226-1G= c.1657-1G= (n.1657-1G=) c.2305-1G= (n.2305-1G=) c.1879-1G= (n.1879-1G=) c.2380-1G= (n.2380-1G=) | |
16 | g.53470745G>T | CA395913652 | RBL2 | c.2527-1G>T (n.2527-1G>T) n.4318-1G>T n.2226-1G>T c.1657-1G>T (n.1657-1G>T) c.2305-1G>T (n.2305-1G>T) c.1879-1G>T (n.1879-1G>T) c.2380-1G>T (n.2380-1G>T) | |
16 | g.53470746G>A | CA8056572 | RBL2 | c.2527G>A (p.Val843Ile) n.4318G>A n.2226G>A c.1657G>A (p.Val553Ile) c.2305G>A (p.Val769Ile) c.1879G>A (p.Val627Ile) c.2380G>A (p.Val794Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.53470746G>C | CA395913653 | RBL2 | c.2527G>C (p.Val843Leu) n.4318G>C n.2226G>C c.1657G>C (p.Val553Leu) c.2305G>C (p.Val769Leu) c.1879G>C (p.Val627Leu) c.2380G>C (p.Val794Leu) | |
16 | g.53470746G= | CA2223143799 | RBL2 | c.2527G= (p.Val843=) n.4318G= n.2226G= c.1657G= (p.Val553=) c.2305G= (p.Val769=) c.1879G= (p.Val627=) c.2380G= (p.Val794=) | |
16 | g.53470746G>T | CA8056573 | RBL2 | c.2527G>T (p.Val843Leu) n.4318G>T n.2226G>T c.1657G>T (p.Val553Leu) c.2305G>T (p.Val769Leu) c.1879G>T (p.Val627Leu) c.2380G>T (p.Val794Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.53470747T>A | CA395913654 | RBL2 | c.2528T>A (p.Val843Glu) n.4319T>A n.2227T>A c.1658T>A (p.Val553Glu) c.2306T>A (p.Val769Glu) c.1880T>A (p.Val627Glu) c.2381T>A (p.Val794Glu) | |
16 | g.53470747T>C | CA395913655 | RBL2 | c.2528T>C (p.Val843Ala) n.4319T>C n.2227T>C c.1658T>C (p.Val553Ala) c.2306T>C (p.Val769Ala) c.1880T>C (p.Val627Ala) c.2381T>C (p.Val794Ala) | COSMIC |
16 | g.53470747T>G | CA395913656 | RBL2 | c.2528T>G (p.Val843Gly) n.4319T>G n.2227T>G c.1658T>G (p.Val553Gly) c.2306T>G (p.Val769Gly) c.1880T>G (p.Val627Gly) c.2381T>G (p.Val794Gly) | |
16 | g.53470748A= | CA2223143802 | RBL2 | c.2529A= (p.Val843=) n.4320A= n.2228A= c.1659A= (p.Val553=) c.2307A= (p.Val769=) c.1881A= (p.Val627=) c.2382A= (p.Val794=) | |
16 | g.53470748A>C | CA495783666 | RBL2 | c.2529A>C (p.Val843=) n.4320A>C n.2228A>C c.1659A>C (p.Val553=) c.2307A>C (p.Val769=) c.1881A>C (p.Val627=) c.2382A>C (p.Val794=) | |
16 | g.53470748A>G | CA8056574 | RBL2 | c.2529A>G (p.Val843=) n.4320A>G n.2228A>G c.1659A>G (p.Val553=) c.2307A>G (p.Val769=) c.1881A>G (p.Val627=) c.2382A>G (p.Val794=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.53470748A>T | CA495783667 | RBL2 | c.2529A>T (p.Val843=) n.4320A>T n.2228A>T c.1659A>T (p.Val553=) c.2307A>T (p.Val769=) c.1881A>T (p.Val627=) c.2382A>T (p.Val794=) | |
16 | g.53470749T>A | CA395913659 | RBL2 | c.2530T>A (p.Tyr844Asn) n.4321T>A n.2229T>A c.1660T>A (p.Tyr554Asn) c.2308T>A (p.Tyr770Asn) c.1882T>A (p.Tyr628Asn) c.2383T>A (p.Tyr795Asn) | |
16 | g.53470749T>C | CA395913658 | RBL2 | c.2530T>C (p.Tyr844His) n.4321T>C n.2229T>C c.1660T>C (p.Tyr554His) c.2308T>C (p.Tyr770His) c.1882T>C (p.Tyr628His) c.2383T>C (p.Tyr795His) | gnomAD v4 |
16 | g.53470749T>G | CA395913657 | RBL2 | c.2530T>G (p.Tyr844Asp) n.4321T>G n.2229T>G c.1660T>G (p.Tyr554Asp) c.2308T>G (p.Tyr770Asp) c.1882T>G (p.Tyr628Asp) c.2383T>G (p.Tyr795Asp) | |
16 | g.53470750A>C | CA395913660 | RBL2 | c.2531A>C (p.Tyr844Ser) n.4322A>C n.2230A>C c.1661A>C (p.Tyr554Ser) c.2309A>C (p.Tyr770Ser) c.1883A>C (p.Tyr628Ser) c.2384A>C (p.Tyr795Ser) | |
16 | g.53470750A>G | CA395913661 | RBL2 | c.2531A>G (p.Tyr844Cys) n.4322A>G n.2230A>G c.1661A>G (p.Tyr554Cys) c.2309A>G (p.Tyr770Cys) c.1883A>G (p.Tyr628Cys) c.2384A>G (p.Tyr795Cys) | |
16 | g.53470750A>T | CA395913662 | RBL2 | c.2531A>T (p.Tyr844Phe) n.4322A>T n.2230A>T c.1661A>T (p.Tyr554Phe) c.2309A>T (p.Tyr770Phe) c.1883A>T (p.Tyr628Phe) c.2384A>T (p.Tyr795Phe) | |
16 | g.53470751C>A | CA395913663 | RBL2 | c.2532C>A (p.Tyr844Ter) n.4323C>A n.2231C>A c.1662C>A (p.Tyr554Ter) c.2310C>A (p.Tyr770Ter) c.1884C>A (p.Tyr628Ter) c.2385C>A (p.Tyr795Ter) | |
16 | g.53470751C>G | CA395913664 | RBL2 | c.2532C>G (p.Tyr844Ter) n.4323C>G n.2231C>G c.1662C>G (p.Tyr554Ter) c.2310C>G (p.Tyr770Ter) c.1884C>G (p.Tyr628Ter) c.2385C>G (p.Tyr795Ter) | |
16 | g.53470751C>T | CA495783669 | RBL2 | c.2532C>T (p.Tyr844=) n.4323C>T n.2231C>T c.1662C>T (p.Tyr554=) c.2310C>T (p.Tyr770=) c.1884C>T (p.Tyr628=) c.2385C>T (p.Tyr795=) | |
16 | g.53470752C>A | CA395913665 | RBL2 | c.2533C>A (p.His845Asn) n.4324C>A n.2232C>A c.1663C>A (p.His555Asn) c.2311C>A (p.His771Asn) c.1885C>A (p.His629Asn) c.2386C>A (p.His796Asn) | gnomAD v4 |
16 | g.53470752C>G | CA395913666 | RBL2 | c.2533C>G (p.His845Asp) n.4324C>G n.2232C>G c.1663C>G (p.His555Asp) c.2311C>G (p.His771Asp) c.1885C>G (p.His629Asp) c.2386C>G (p.His796Asp) | |
16 | g.53470752C>T | CA395913667 | RBL2 | c.2533C>T (p.His845Tyr) n.4324C>T n.2232C>T c.1663C>T (p.His555Tyr) c.2311C>T (p.His771Tyr) c.1885C>T (p.His629Tyr) c.2386C>T (p.His796Tyr) | |
16 | g.53470753A>C | CA395913668 | RBL2 | c.2534A>C (p.His845Pro) n.4325A>C n.2233A>C c.1664A>C (p.His555Pro) c.2312A>C (p.His771Pro) c.1886A>C (p.His629Pro) c.2387A>C (p.His796Pro) | |
16 | g.53470753A>G | CA395913669 | RBL2 | c.2534A>G (p.His845Arg) n.4325A>G n.2233A>G c.1664A>G (p.His555Arg) c.2312A>G (p.His771Arg) c.1886A>G (p.His629Arg) c.2387A>G (p.His796Arg) | gnomAD v4 |
16 | g.53470753A>T | CA395913670 | RBL2 | c.2534A>T (p.His845Leu) n.4325A>T n.2233A>T c.1664A>T (p.His555Leu) c.2312A>T (p.His771Leu) c.1886A>T (p.His629Leu) c.2387A>T (p.His796Leu) | |
16 | g.53470754T>A | CA395913671 | RBL2 | c.2535T>A (p.His845Gln) n.4326T>A n.2234T>A c.1665T>A (p.His555Gln) c.2313T>A (p.His771Gln) c.1887T>A (p.His629Gln) c.2388T>A (p.His796Gln) | |
16 | g.53470754T>C | CA495783670 | RBL2 | c.2535T>C (p.His845=) n.4326T>C n.2234T>C c.1665T>C (p.His555=) c.2313T>C (p.His771=) c.1887T>C (p.His629=) c.2388T>C (p.His796=) | |
16 | g.53470754T>G | CA395913672 | RBL2 | c.2535T>G (p.His845Gln) n.4326T>G n.2234T>G c.1665T>G (p.His555Gln) c.2313T>G (p.His771Gln) c.1887T>G (p.His629Gln) c.2388T>G (p.His796Gln) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.53470754T= | CA2223143806 | RBL2 | c.2535T= (p.His845=) n.4326T= n.2234T= c.1665T= (p.His555=) c.2313T= (p.His771=) c.1887T= (p.His629=) c.2388T= (p.His796=) | |
16 | g.53470755T>A | CA395913673 | RBL2 | c.2536T>A (p.Leu846Ile) n.4327T>A n.2235T>A c.1666T>A (p.Leu556Ile) c.2314T>A (p.Leu772Ile) c.1888T>A (p.Leu630Ile) c.2389T>A (p.Leu797Ile) | |
16 | g.53470755T>C | CA495783672 | RBL2 | c.2536T>C (p.Leu846=) n.4327T>C n.2235T>C c.1666T>C (p.Leu556=) c.2314T>C (p.Leu772=) c.1888T>C (p.Leu630=) c.2389T>C (p.Leu797=) | |
16 | g.53470755T>G | CA395913674 | RBL2 | c.2536T>G (p.Leu846Val) n.4327T>G n.2235T>G c.1666T>G (p.Leu556Val) c.2314T>G (p.Leu772Val) c.1888T>G (p.Leu630Val) c.2389T>G (p.Leu797Val) | |
16 | g.53470756T>A | CA395913675 | RBL2 | c.2537T>A (p.Leu846Ter) n.4328T>A n.2236T>A c.1667T>A (p.Leu556Ter) c.2315T>A (p.Leu772Ter) c.1889T>A (p.Leu630Ter) c.2390T>A (p.Leu797Ter) | |
16 | g.53470756T>C | CA395913676 | RBL2 | c.2537T>C (p.Leu846Ser) n.4328T>C n.2236T>C c.1667T>C (p.Leu556Ser) c.2315T>C (p.Leu772Ser) c.1889T>C (p.Leu630Ser) c.2390T>C (p.Leu797Ser) | |
16 | g.53470756T>G | CA395913677 | RBL2 | c.2537T>G (p.Leu846Ter) n.4328T>G n.2236T>G c.1667T>G (p.Leu556Ter) c.2315T>G (p.Leu772Ter) c.1889T>G (p.Leu630Ter) c.2390T>G (p.Leu797Ter) | |
16 | g.53470757A>C | CA395913678 | RBL2 | c.2538A>C (p.Leu846Phe) n.4329A>C n.2237A>C c.1668A>C (p.Leu556Phe) c.2316A>C (p.Leu772Phe) c.1890A>C (p.Leu630Phe) c.2391A>C (p.Leu797Phe) | |
16 | g.53470757A>G | CA495783675 | RBL2 | c.2538A>G (p.Leu846=) n.4329A>G n.2237A>G c.1668A>G (p.Leu556=) c.2316A>G (p.Leu772=) c.1890A>G (p.Leu630=) c.2391A>G (p.Leu797=) | |
16 | g.53470757A>T | CA395913679 | RBL2 | c.2538A>T (p.Leu846Phe) n.4329A>T n.2237A>T c.1668A>T (p.Leu556Phe) c.2316A>T (p.Leu772Phe) c.1890A>T (p.Leu630Phe) c.2391A>T (p.Leu797Phe) | |
16 | g.53470758G>A | CA395913682 | RBL2 | c.2539G>A (p.Ala847Thr) n.4330G>A n.2238G>A c.1669G>A (p.Ala557Thr) c.2317G>A (p.Ala773Thr) c.1891G>A (p.Ala631Thr) c.2392G>A (p.Ala798Thr) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.53470758G>C | CA395913681 | RBL2 | c.2539G>C (p.Ala847Pro) n.4330G>C n.2238G>C c.1669G>C (p.Ala557Pro) c.2317G>C (p.Ala773Pro) c.1891G>C (p.Ala631Pro) c.2392G>C (p.Ala798Pro) | |
16 | g.53470758G= | CA2223143812 | RBL2 | c.2539G= (p.Ala847=) n.4330G= n.2238G= c.1669G= (p.Ala557=) c.2317G= (p.Ala773=) c.1891G= (p.Ala631=) c.2392G= (p.Ala798=) | |
16 | g.53470758G>T | CA395913680 | RBL2 | c.2539G>T (p.Ala847Ser) n.4330G>T n.2238G>T c.1669G>T (p.Ala557Ser) c.2317G>T (p.Ala773Ser) c.1891G>T (p.Ala631Ser) c.2392G>T (p.Ala798Ser) | |
16 | g.53470759C>A | CA395913683 | RBL2 | c.2540C>A (p.Ala847Glu) n.4331C>A n.2239C>A c.1670C>A (p.Ala557Glu) c.2318C>A (p.Ala773Glu) c.1892C>A (p.Ala631Glu) c.2393C>A (p.Ala798Glu) | |
16 | g.53470759C= | CA2223143814 | RBL2 | c.2540C= (p.Ala847=) n.4331C= n.2239C= c.1670C= (p.Ala557=) c.2318C= (p.Ala773=) c.1892C= (p.Ala631=) c.2393C= (p.Ala798=) |