| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154361812_154363756delinsCA | CA341137 | FLNA | c.2280+266_2827-25delinsTG c.2199+266_2746-25delinsTG c.2337+266_2884-25delinsTG c.279+1680_279+3624delinsTG c.2559+266_3106-25delinsTG c.2236+266_2783-25delinsTG c.2079+266_2626-25delinsTG | ClinVar |
| X | g.154362726G>A | CA415237466 | FLNA | c.2339C>T (p.Ala780Val) c.2258C>T (p.Ala753Val) c.2396C>T (n.2396C>T) c.279+2710C>T c.2618C>T (n.2618C>T) c.2295C>T (n.2295C>T) c.2138C>T (p.Ala713Val) | |
| X | g.154362726G>C | CA415237468 | FLNA | c.2339C>G (p.Ala780Gly) c.2258C>G (p.Ala753Gly) c.2396C>G (n.2396C>G) c.279+2710C>G c.2618C>G (n.2618C>G) c.2295C>G (n.2295C>G) c.2138C>G (p.Ala713Gly) | |
| X | g.154362726G>T | CA415237470 | FLNA | c.2339C>A (p.Ala780Asp) c.2258C>A (p.Ala753Asp) c.2396C>A (n.2396C>A) c.279+2710C>A c.2618C>A (n.2618C>A) c.2295C>A (n.2295C>A) c.2138C>A (p.Ala713Asp) | |
| X | g.154362727C>A | CA415237477 | FLNA | c.2338G>T (p.Ala780Ser) c.2257G>T (p.Ala753Ser) c.2395G>T (n.2395G>T) c.279+2709G>T c.2617G>T (n.2617G>T) c.2294G>T (n.2294G>T) c.2137G>T (p.Ala713Ser) | |
| X | g.154362727C>G | CA415237475 | FLNA | c.2338G>C (p.Ala780Pro) c.2257G>C (p.Ala753Pro) c.2395G>C (n.2395G>C) c.279+2709G>C c.2617G>C (n.2617G>C) c.2294G>C (n.2294G>C) c.2137G>C (p.Ala713Pro) | |
| X | g.154362727C>T | CA415237473 | FLNA | c.2338G>A (p.Ala780Thr) c.2257G>A (p.Ala753Thr) c.2395G>A (n.2395G>A) c.279+2709G>A c.2617G>A (n.2617G>A) c.2294G>A (n.2294G>A) c.2137G>A (p.Ala713Thr) | |
| X | g.154362728T>A | CA519709039 | FLNA | c.2337A>T (p.Val779=) c.2256A>T (p.Val752=) c.2394A>T (n.2394A>T) c.279+2708A>T c.2616A>T (n.2616A>T) c.2293A>T (n.2293A>T) c.2136A>T (p.Val712=) | |
| X | g.154362728T>C | CA519709040 | FLNA | c.2337A>G (p.Val779=) c.2256A>G (p.Val752=) c.2394A>G (n.2394A>G) c.279+2708A>G c.2616A>G (n.2616A>G) c.2293A>G (n.2293A>G) c.2136A>G (p.Val712=) | |
| X | g.154362728T>G | CA519709041 | FLNA | c.2337A>C (p.Val779=) c.2256A>C (p.Val752=) c.2394A>C (n.2394A>C) c.279+2708A>C c.2616A>C (n.2616A>C) c.2293A>C (n.2293A>C) c.2136A>C (p.Val712=) | |
| X | g.154362729A>C | CA415237479 | FLNA | c.2336T>G (p.Val779Gly) c.2255T>G (p.Val752Gly) c.2393T>G (n.2393T>G) c.279+2707T>G c.2615T>G (n.2615T>G) c.2292T>G (n.2292T>G) c.2135T>G (p.Val712Gly) | |
| X | g.154362729A>G | CA415237480 | FLNA | c.2336T>C (p.Val779Ala) c.2255T>C (p.Val752Ala) c.2393T>C (n.2393T>C) c.279+2707T>C c.2615T>C (n.2615T>C) c.2292T>C (n.2292T>C) c.2135T>C (p.Val712Ala) | |
| X | g.154362729A>T | CA415237481 | FLNA | c.2336T>A (p.Val779Glu) c.2255T>A (p.Val752Glu) c.2393T>A (n.2393T>A) c.279+2707T>A c.2615T>A (n.2615T>A) c.2292T>A (n.2292T>A) c.2135T>A (p.Val712Glu) | |
| X | g.154362730C>A | CA415237482 | FLNA | c.2335G>T (p.Val779Leu) c.2254G>T (p.Val752Leu) c.2392G>T (n.2392G>T) c.279+2706G>T c.2614G>T (n.2614G>T) c.2291G>T (n.2291G>T) c.2134G>T (p.Val712Leu) | dbSNP gnomAD v2 |
| X | g.154362730C= | CA2466656955 | FLNA | c.2335G= (p.Val779=) c.2254G= (p.Val752=) c.2392G= (n.2392G=) c.279+2706G= c.2614G= (n.2614G=) c.2291G= (n.2291G=) c.2134G= (p.Val712=) | |
| X | g.154362730C>G | CA415237483 | FLNA | c.2335G>C (p.Val779Leu) c.2254G>C (p.Val752Leu) c.2392G>C (n.2392G>C) c.279+2706G>C c.2614G>C (n.2614G>C) c.2291G>C (n.2291G>C) c.2134G>C (p.Val712Leu) | |
| X | g.154362730C>T | CA337281863 | FLNA | c.2335G>A (p.Val779Ile) c.2254G>A (p.Val752Ile) c.2392G>A (n.2392G>A) c.279+2706G>A c.2614G>A (n.2614G>A) c.2291G>A (n.2291G>A) c.2134G>A (p.Val712Ile) | dbSNP |
| X | g.154362731T>A | CA519709048 | FLNA | c.2334A>T (p.Gly778=) c.2253A>T (p.Gly751=) c.2391A>T (n.2391A>T) c.279+2705A>T c.2613A>T (n.2613A>T) c.2290A>T (n.2290A>T) c.2133A>T (p.Gly711=) | |
| X | g.154362731T>C | CA519709050 | FLNA | c.2334A>G (p.Gly778=) c.2253A>G (p.Gly751=) c.2391A>G (n.2391A>G) c.279+2705A>G c.2613A>G (n.2613A>G) c.2290A>G (n.2290A>G) c.2133A>G (p.Gly711=) | |
| X | g.154362731T>G | CA519709052 | FLNA | c.2334A>C (p.Gly778=) c.2253A>C (p.Gly751=) c.2391A>C (n.2391A>C) c.279+2705A>C c.2613A>C (n.2613A>C) c.2290A>C (n.2290A>C) c.2133A>C (p.Gly711=) | |
| X | g.154362732C>A | CA415237484 | FLNA | c.2333G>T (p.Gly778Val) c.2252G>T (p.Gly751Val) c.2390G>T (n.2390G>T) c.279+2704G>T c.2612G>T (n.2612G>T) c.2289G>T (n.2289G>T) c.2132G>T (p.Gly711Val) | COSMIC COSMIC |
| X | g.154362732C>G | CA415237486 | FLNA | c.2333G>C (p.Gly778Ala) c.2252G>C (p.Gly751Ala) c.2390G>C (n.2390G>C) c.279+2704G>C c.2612G>C (n.2612G>C) c.2289G>C (n.2289G>C) c.2132G>C (p.Gly711Ala) | |
| X | g.154362732C>T | CA415237485 | FLNA | c.2333G>A (p.Gly778Glu) c.2252G>A (p.Gly751Glu) c.2390G>A (n.2390G>A) c.279+2704G>A c.2612G>A (n.2612G>A) c.2289G>A (n.2289G>A) c.2132G>A (p.Gly711Glu) | |
| X | g.154362733C>A | CA415237487 | FLNA | c.2332G>T (p.Gly778Ter) c.2251G>T (p.Gly751Ter) c.2389G>T (n.2389G>T) c.279+2703G>T c.2611G>T (n.2611G>T) c.2288G>T (n.2288G>T) c.2131G>T (p.Gly711Ter) | |
| X | g.154362733C>G | CA415237488 | FLNA | c.2332G>C (p.Gly778Arg) c.2251G>C (p.Gly751Arg) c.2389G>C (n.2389G>C) c.279+2703G>C c.2611G>C (n.2611G>C) c.2288G>C (n.2288G>C) c.2131G>C (p.Gly711Arg) | |
| X | g.154362733C>T | CA415237489 | FLNA | c.2332G>A (p.Gly778Arg) c.2251G>A (p.Gly751Arg) c.2389G>A (n.2389G>A) c.279+2703G>A c.2611G>A (n.2611G>A) c.2288G>A (n.2288G>A) c.2131G>A (p.Gly711Arg) | ClinVar dbSNP |
| X | g.154362734G>A | CA10560953 | FLNA | c.2331C>T (p.Pro777=) c.2250C>T (p.Pro750=) c.2388C>T (n.2388C>T) c.279+2702C>T c.2610C>T (n.2610C>T) c.2287C>T (n.2287C>T) c.2130C>T (p.Pro710=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154362734G>C | CA519709058 | FLNA | c.2331C>G (p.Pro777=) c.2250C>G (p.Pro750=) c.2388C>G (n.2388C>G) c.279+2702C>G c.2610C>G (n.2610C>G) c.2287C>G (n.2287C>G) c.2130C>G (p.Pro710=) | |
| X | g.154362734G= | CA2466656956 | FLNA | c.2331C= (p.Pro777=) c.2250C= (p.Pro750=) c.2388C= (n.2388C=) c.279+2702C= c.2610C= (n.2610C=) c.2287C= (n.2287C=) c.2130C= (p.Pro710=) | |
| X | g.154362734G>T | CA519709059 | FLNA | c.2331C>A (p.Pro777=) c.2250C>A (p.Pro750=) c.2388C>A (n.2388C>A) c.279+2702C>A c.2610C>A (n.2610C>A) c.2287C>A (n.2287C>A) c.2130C>A (p.Pro710=) | gnomAD v4 |
| X | g.154362735G>A | CA415237490 | FLNA | c.2330C>T (p.Pro777Leu) c.2249C>T (p.Pro750Leu) c.2387C>T (n.2387C>T) c.279+2701C>T c.2609C>T (n.2609C>T) c.2286C>T (n.2286C>T) c.2129C>T (p.Pro710Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154362735G>C | CA322832 | FLNA | c.2330C>G (p.Pro777Arg) c.2249C>G (p.Pro750Arg) c.2387C>G (n.2387C>G) c.279+2701C>G c.2609C>G (n.2609C>G) c.2286C>G (n.2286C>G) c.2129C>G (p.Pro710Arg) | ClinVar dbSNP |
| X | g.154362735G= | CA2466656957 | FLNA | c.2330C= (p.Pro777=) c.2249C= (p.Pro750=) c.2387C= (n.2387C=) c.279+2701C= c.2609C= (n.2609C=) c.2286C= (n.2286C=) c.2129C= (p.Pro710=) | |
| X | g.154362735G>T | CA415237491 | FLNA | c.2330C>A (p.Pro777His) c.2249C>A (p.Pro750His) c.2387C>A (n.2387C>A) c.279+2701C>A c.2609C>A (n.2609C>A) c.2286C>A (n.2286C>A) c.2129C>A (p.Pro710His) | |
| X | g.154362736G>A | CA415237492 | FLNA | c.2329C>T (p.Pro777Ser) c.2248C>T (p.Pro750Ser) c.2386C>T (n.2386C>T) c.279+2700C>T c.2608C>T (n.2608C>T) c.2285C>T (n.2285C>T) c.2128C>T (p.Pro710Ser) | |
| X | g.154362736G>C | CA415237493 | FLNA | c.2329C>G (p.Pro777Ala) c.2248C>G (p.Pro750Ala) c.2386C>G (n.2386C>G) c.279+2700C>G c.2608C>G (n.2608C>G) c.2285C>G (n.2285C>G) c.2128C>G (p.Pro710Ala) | |
| X | g.154362736G>T | CA415237494 | FLNA | c.2329C>A (p.Pro777Thr) c.2248C>A (p.Pro750Thr) c.2386C>A (n.2386C>A) c.279+2700C>A c.2608C>A (n.2608C>A) c.2285C>A (n.2285C>A) c.2128C>A (p.Pro710Thr) | |
| X | g.154362737G>A | CA519709064 | FLNA | c.2328C>T (p.Gly776=) c.2247C>T (p.Gly749=) c.2385C>T (n.2385C>T) c.279+2699C>T c.2607C>T (n.2607C>T) c.2284C>T (n.2284C>T) c.2127C>T (p.Gly709=) | |
| X | g.154362737G>C | CA519709066 | FLNA | c.2328C>G (p.Gly776=) c.2247C>G (p.Gly749=) c.2385C>G (n.2385C>G) c.279+2699C>G c.2607C>G (n.2607C>G) c.2284C>G (n.2284C>G) c.2127C>G (p.Gly709=) | |
| X | g.154362737G>T | CA519709068 | FLNA | c.2328C>A (p.Gly776=) c.2247C>A (p.Gly749=) c.2385C>A (n.2385C>A) c.279+2699C>A c.2607C>A (n.2607C>A) c.2284C>A (n.2284C>A) c.2127C>A (p.Gly709=) | gnomAD v4 |
| X | g.154362738C>A | CA415237497 | FLNA | c.2327G>T (p.Gly776Val) c.2246G>T (p.Gly749Val) c.2384G>T (n.2384G>T) c.279+2698G>T c.2606G>T (n.2606G>T) c.2283G>T (n.2283G>T) c.2126G>T (p.Gly709Val) | COSMIC COSMIC |
| X | g.154362738C>G | CA415237496 | FLNA | c.2327G>C (p.Gly776Ala) c.2246G>C (p.Gly749Ala) c.2384G>C (n.2384G>C) c.279+2698G>C c.2606G>C (n.2606G>C) c.2283G>C (n.2283G>C) c.2126G>C (p.Gly709Ala) | |
| X | g.154362738C>T | CA415237495 | FLNA | c.2327G>A (p.Gly776Asp) c.2246G>A (p.Gly749Asp) c.2384G>A (n.2384G>A) c.279+2698G>A c.2606G>A (n.2606G>A) c.2283G>A (n.2283G>A) c.2126G>A (p.Gly709Asp) | |
| X | g.154362739C>A | CA415237498 | FLNA | c.2326G>T (p.Gly776Cys) c.2245G>T (p.Gly749Cys) c.2383G>T (n.2383G>T) c.279+2697G>T c.2605G>T (n.2605G>T) c.2282G>T (n.2282G>T) c.2125G>T (p.Gly709Cys) | |
| X | g.154362739C= | CA2466656958 | FLNA | c.2326G= (p.Gly776=) c.2245G= (p.Gly749=) c.2383G= (n.2383G=) c.279+2697G= c.2605G= (n.2605G=) c.2282G= (n.2282G=) c.2125G= (p.Gly709=) | |
| X | g.154362739C>G | CA415237500 | FLNA | c.2326G>C (p.Gly776Arg) c.2245G>C (p.Gly749Arg) c.2383G>C (n.2383G>C) c.279+2697G>C c.2605G>C (n.2605G>C) c.2282G>C (n.2282G>C) c.2125G>C (p.Gly709Arg) | |
| X | g.154362739C>T | CA415237499 | FLNA | c.2326G>A (p.Gly776Ser) c.2245G>A (p.Gly749Ser) c.2383G>A (n.2383G>A) c.279+2697G>A c.2605G>A (n.2605G>A) c.2282G>A (n.2282G>A) c.2125G>A (p.Gly709Ser) | dbSNP gnomAD v4 |
| X | g.154362740G>A | CA10560954 | FLNA | c.2325C>T (p.Tyr775=) c.2244C>T (p.Tyr748=) c.2382C>T (n.2382C>T) c.279+2696C>T c.2604C>T (n.2604C>T) c.2281C>T (n.2281C>T) c.2124C>T (p.Tyr708=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154362740G>C | CA415237501 | FLNA | c.2325C>G (p.Tyr775Ter) c.2244C>G (p.Tyr748Ter) c.2382C>G (n.2382C>G) c.279+2696C>G c.2604C>G (n.2604C>G) c.2281C>G (n.2281C>G) c.2124C>G (p.Tyr708Ter) | |
| X | g.154362740G= | CA2466656959 | FLNA | c.2325C= (p.Tyr775=) c.2244C= (p.Tyr748=) c.2382C= (n.2382C=) c.279+2696C= c.2604C= (n.2604C=) c.2281C= (n.2281C=) c.2124C= (p.Tyr708=) |