UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.77508365C>A | CA413703416 | ATRX | c.7465G>T (p.Gly2489Trp) c.2563G>T (p.Gly855Trp) c.7351G>T (p.Gly2451Trp) c.*7093G>T (n.*7093G>T) n.5785G>T c.7462G>T (p.Gly2488Trp) c.7378G>T (p.Gly2460Trp) c.7348G>T (p.Gly2450Trp) c.7300G>T (p.Gly2434Trp) c.7261G>T (p.Gly2421Trp) c.7186G>T (p.Gly2396Trp) n.9057G>T c.7375G>T (p.Gly2459Trp) c.7345G>T (p.Gly2449Trp) c.7297G>T (p.Gly2433Trp) c.7264G>T (p.Gly2422Trp) c.7234G>T (p.Gly2412Trp) c.7231G>T (p.Gly2411Trp) c.7183G>T (p.Gly2395Trp) c.7147G>T (p.Gly2383Trp) c.7144G>T (p.Gly2382Trp) c.7099G>T (p.Gly2367Trp) n.7764G>T | |
| X | g.77508365C>G | CA413703426 | ATRX | c.7465G>C (p.Gly2489Arg) c.2563G>C (p.Gly855Arg) c.7351G>C (p.Gly2451Arg) c.*7093G>C (n.*7093G>C) n.5785G>C c.7462G>C (p.Gly2488Arg) c.7378G>C (p.Gly2460Arg) c.7348G>C (p.Gly2450Arg) c.7300G>C (p.Gly2434Arg) c.7261G>C (p.Gly2421Arg) c.7186G>C (p.Gly2396Arg) n.9057G>C c.7375G>C (p.Gly2459Arg) c.7345G>C (p.Gly2449Arg) c.7297G>C (p.Gly2433Arg) c.7264G>C (p.Gly2422Arg) c.7234G>C (p.Gly2412Arg) c.7231G>C (p.Gly2411Arg) c.7183G>C (p.Gly2395Arg) c.7147G>C (p.Gly2383Arg) c.7144G>C (p.Gly2382Arg) c.7099G>C (p.Gly2367Arg) n.7764G>C | |
| X | g.77508365C>T | CA413703428 | ATRX | c.7465G>A (p.Gly2489Arg) c.2563G>A (p.Gly855Arg) c.7351G>A (p.Gly2451Arg) c.*7093G>A (n.*7093G>A) n.5785G>A c.7462G>A (p.Gly2488Arg) c.7378G>A (p.Gly2460Arg) c.7348G>A (p.Gly2450Arg) c.7300G>A (p.Gly2434Arg) c.7261G>A (p.Gly2421Arg) c.7186G>A (p.Gly2396Arg) n.9057G>A c.7375G>A (p.Gly2459Arg) c.7345G>A (p.Gly2449Arg) c.7297G>A (p.Gly2433Arg) c.7264G>A (p.Gly2422Arg) c.7234G>A (p.Gly2412Arg) c.7231G>A (p.Gly2411Arg) c.7183G>A (p.Gly2395Arg) c.7147G>A (p.Gly2383Arg) c.7144G>A (p.Gly2382Arg) c.7099G>A (p.Gly2367Arg) n.7764G>A | |
| X | g.77508366T>A | CA413703431 | ATRX | c.7464A>T (p.Gln2488His) c.2562A>T (p.Gln854His) c.7350A>T (p.Gln2450His) c.*7092A>T (n.*7092A>T) n.5784A>T c.7461A>T (p.Gln2487His) c.7377A>T (p.Gln2459His) c.7347A>T (p.Gln2449His) c.7299A>T (p.Gln2433His) c.7260A>T (p.Gln2420His) c.7185A>T (p.Gln2395His) n.9056A>T c.7374A>T (p.Gln2458His) c.7344A>T (p.Gln2448His) c.7296A>T (p.Gln2432His) c.7263A>T (p.Gln2421His) c.7233A>T (p.Gln2411His) c.7230A>T (p.Gln2410His) c.7182A>T (p.Gln2394His) c.7146A>T (p.Gln2382His) c.7143A>T (p.Gln2381His) c.7098A>T (p.Gln2366His) n.7763A>T | COSMIC COSMIC |
| X | g.77508366T>C | CA517373962 | ATRX | c.7464A>G (p.Gln2488=) c.2562A>G (p.Gln854=) c.7350A>G (p.Gln2450=) c.*7092A>G (n.*7092A>G) n.5784A>G c.7461A>G (p.Gln2487=) c.7377A>G (p.Gln2459=) c.7347A>G (p.Gln2449=) c.7299A>G (p.Gln2433=) c.7260A>G (p.Gln2420=) c.7185A>G (p.Gln2395=) n.9056A>G c.7374A>G (p.Gln2458=) c.7344A>G (p.Gln2448=) c.7296A>G (p.Gln2432=) c.7263A>G (p.Gln2421=) c.7233A>G (p.Gln2411=) c.7230A>G (p.Gln2410=) c.7182A>G (p.Gln2394=) c.7146A>G (p.Gln2382=) c.7143A>G (p.Gln2381=) c.7098A>G (p.Gln2366=) n.7763A>G | |
| X | g.77508366T>G | CA413703434 | ATRX | c.7464A>C (p.Gln2488His) c.2562A>C (p.Gln854His) c.7350A>C (p.Gln2450His) c.*7092A>C (n.*7092A>C) n.5784A>C c.7461A>C (p.Gln2487His) c.7377A>C (p.Gln2459His) c.7347A>C (p.Gln2449His) c.7299A>C (p.Gln2433His) c.7260A>C (p.Gln2420His) c.7185A>C (p.Gln2395His) n.9056A>C c.7374A>C (p.Gln2458His) c.7344A>C (p.Gln2448His) c.7296A>C (p.Gln2432His) c.7263A>C (p.Gln2421His) c.7233A>C (p.Gln2411His) c.7230A>C (p.Gln2410His) c.7182A>C (p.Gln2394His) c.7146A>C (p.Gln2382His) c.7143A>C (p.Gln2381His) c.7098A>C (p.Gln2366His) n.7763A>C | |
| X | g.77508367T>A | CA413703444 | ATRX | c.7463A>T (p.Gln2488Leu) c.2561A>T (p.Gln854Leu) c.7349A>T (p.Gln2450Leu) c.*7091A>T (n.*7091A>T) n.5783A>T c.7460A>T (p.Gln2487Leu) c.7376A>T (p.Gln2459Leu) c.7346A>T (p.Gln2449Leu) c.7298A>T (p.Gln2433Leu) c.7259A>T (p.Gln2420Leu) c.7184A>T (p.Gln2395Leu) n.9055A>T c.7373A>T (p.Gln2458Leu) c.7343A>T (p.Gln2448Leu) c.7295A>T (p.Gln2432Leu) c.7262A>T (p.Gln2421Leu) c.7232A>T (p.Gln2411Leu) c.7229A>T (p.Gln2410Leu) c.7181A>T (p.Gln2394Leu) c.7145A>T (p.Gln2382Leu) c.7142A>T (p.Gln2381Leu) c.7097A>T (p.Gln2366Leu) n.7762A>T | |
| X | g.77508367T>C | CA413703439 | ATRX | c.7463A>G (p.Gln2488Arg) c.2561A>G (p.Gln854Arg) c.7349A>G (p.Gln2450Arg) c.*7091A>G (n.*7091A>G) n.5783A>G c.7460A>G (p.Gln2487Arg) c.7376A>G (p.Gln2459Arg) c.7346A>G (p.Gln2449Arg) c.7298A>G (p.Gln2433Arg) c.7259A>G (p.Gln2420Arg) c.7184A>G (p.Gln2395Arg) n.9055A>G c.7373A>G (p.Gln2458Arg) c.7343A>G (p.Gln2448Arg) c.7295A>G (p.Gln2432Arg) c.7262A>G (p.Gln2421Arg) c.7232A>G (p.Gln2411Arg) c.7229A>G (p.Gln2410Arg) c.7181A>G (p.Gln2394Arg) c.7145A>G (p.Gln2382Arg) c.7142A>G (p.Gln2381Arg) c.7097A>G (p.Gln2366Arg) n.7762A>G | |
| X | g.77508367T>G | CA413703442 | ATRX | c.7463A>C (p.Gln2488Pro) c.2561A>C (p.Gln854Pro) c.7349A>C (p.Gln2450Pro) c.*7091A>C (n.*7091A>C) n.5783A>C c.7460A>C (p.Gln2487Pro) c.7376A>C (p.Gln2459Pro) c.7346A>C (p.Gln2449Pro) c.7298A>C (p.Gln2433Pro) c.7259A>C (p.Gln2420Pro) c.7184A>C (p.Gln2395Pro) n.9055A>C c.7373A>C (p.Gln2458Pro) c.7343A>C (p.Gln2448Pro) c.7295A>C (p.Gln2432Pro) c.7262A>C (p.Gln2421Pro) c.7232A>C (p.Gln2411Pro) c.7229A>C (p.Gln2410Pro) c.7181A>C (p.Gln2394Pro) c.7145A>C (p.Gln2382Pro) c.7142A>C (p.Gln2381Pro) c.7097A>C (p.Gln2366Pro) n.7762A>C | |
| X | g.77508368G>A | CA413703447 | ATRX | c.7462C>T (p.Gln2488Ter) c.2560C>T (p.Gln854Ter) c.7348C>T (p.Gln2450Ter) c.*7090C>T (n.*7090C>T) n.5782C>T c.7459C>T (p.Gln2487Ter) c.7375C>T (p.Gln2459Ter) c.7345C>T (p.Gln2449Ter) c.7297C>T (p.Gln2433Ter) c.7258C>T (p.Gln2420Ter) c.7183C>T (p.Gln2395Ter) n.9054C>T c.7372C>T (p.Gln2458Ter) c.7342C>T (p.Gln2448Ter) c.7294C>T (p.Gln2432Ter) c.7261C>T (p.Gln2421Ter) c.7231C>T (p.Gln2411Ter) c.7228C>T (p.Gln2410Ter) c.7180C>T (p.Gln2394Ter) c.7144C>T (p.Gln2382Ter) c.7141C>T (p.Gln2381Ter) c.7096C>T (p.Gln2366Ter) n.7761C>T | |
| X | g.77508368G>C | CA413703450 | ATRX | c.7462C>G (p.Gln2488Glu) c.2560C>G (p.Gln854Glu) c.7348C>G (p.Gln2450Glu) c.*7090C>G (n.*7090C>G) n.5782C>G c.7459C>G (p.Gln2487Glu) c.7375C>G (p.Gln2459Glu) c.7345C>G (p.Gln2449Glu) c.7297C>G (p.Gln2433Glu) c.7258C>G (p.Gln2420Glu) c.7183C>G (p.Gln2395Glu) n.9054C>G c.7372C>G (p.Gln2458Glu) c.7342C>G (p.Gln2448Glu) c.7294C>G (p.Gln2432Glu) c.7261C>G (p.Gln2421Glu) c.7231C>G (p.Gln2411Glu) c.7228C>G (p.Gln2410Glu) c.7180C>G (p.Gln2394Glu) c.7144C>G (p.Gln2382Glu) c.7141C>G (p.Gln2381Glu) c.7096C>G (p.Gln2366Glu) n.7761C>G | |
| X | g.77508368G>T | CA413703453 | ATRX | c.7462C>A (p.Gln2488Lys) c.2560C>A (p.Gln854Lys) c.7348C>A (p.Gln2450Lys) c.*7090C>A (n.*7090C>A) n.5782C>A c.7459C>A (p.Gln2487Lys) c.7375C>A (p.Gln2459Lys) c.7345C>A (p.Gln2449Lys) c.7297C>A (p.Gln2433Lys) c.7258C>A (p.Gln2420Lys) c.7183C>A (p.Gln2395Lys) n.9054C>A c.7372C>A (p.Gln2458Lys) c.7342C>A (p.Gln2448Lys) c.7294C>A (p.Gln2432Lys) c.7261C>A (p.Gln2421Lys) c.7231C>A (p.Gln2411Lys) c.7228C>A (p.Gln2410Lys) c.7180C>A (p.Gln2394Lys) c.7144C>A (p.Gln2382Lys) c.7141C>A (p.Gln2381Lys) c.7096C>A (p.Gln2366Lys) n.7761C>A | |
| X | g.77508369G>A | CA517373964 | ATRX | c.7461C>T (p.Ser2487=) c.2559C>T (p.Ser853=) c.7347C>T (p.Ser2449=) c.*7089C>T (n.*7089C>T) n.5781C>T c.7458C>T (p.Ser2486=) c.7374C>T (p.Ser2458=) c.7344C>T (p.Ser2448=) c.7296C>T (p.Ser2432=) c.7257C>T (p.Ser2419=) c.7182C>T (p.Ser2394=) n.9053C>T c.7371C>T (p.Ser2457=) c.7341C>T (p.Ser2447=) c.7293C>T (p.Ser2431=) c.7260C>T (p.Ser2420=) c.7230C>T (p.Ser2410=) c.7227C>T (p.Ser2409=) c.7179C>T (p.Ser2393=) c.7143C>T (p.Ser2381=) c.7140C>T (p.Ser2380=) c.7095C>T (p.Ser2365=) n.7760C>T | COSMIC COSMIC |
| X | g.77508369G>C | CA517373965 | ATRX | c.7461C>G (p.Ser2487=) c.2559C>G (p.Ser853=) c.7347C>G (p.Ser2449=) c.*7089C>G (n.*7089C>G) n.5781C>G c.7458C>G (p.Ser2486=) c.7374C>G (p.Ser2458=) c.7344C>G (p.Ser2448=) c.7296C>G (p.Ser2432=) c.7257C>G (p.Ser2419=) c.7182C>G (p.Ser2394=) n.9053C>G c.7371C>G (p.Ser2457=) c.7341C>G (p.Ser2447=) c.7293C>G (p.Ser2431=) c.7260C>G (p.Ser2420=) c.7230C>G (p.Ser2410=) c.7227C>G (p.Ser2409=) c.7179C>G (p.Ser2393=) c.7143C>G (p.Ser2381=) c.7140C>G (p.Ser2380=) c.7095C>G (p.Ser2365=) n.7760C>G | |
| X | g.77508369G>T | CA517373966 | ATRX | c.7461C>A (p.Ser2487=) c.2559C>A (p.Ser853=) c.7347C>A (p.Ser2449=) c.*7089C>A (n.*7089C>A) n.5781C>A c.7458C>A (p.Ser2486=) c.7374C>A (p.Ser2458=) c.7344C>A (p.Ser2448=) c.7296C>A (p.Ser2432=) c.7257C>A (p.Ser2419=) c.7182C>A (p.Ser2394=) n.9053C>A c.7371C>A (p.Ser2457=) c.7341C>A (p.Ser2447=) c.7293C>A (p.Ser2431=) c.7260C>A (p.Ser2420=) c.7230C>A (p.Ser2410=) c.7227C>A (p.Ser2409=) c.7179C>A (p.Ser2393=) c.7143C>A (p.Ser2381=) c.7140C>A (p.Ser2380=) c.7095C>A (p.Ser2365=) n.7760C>A | dbSNP |
| X | g.77508370G>A | CA413703454 | ATRX | c.7460C>T (p.Ser2487Phe) c.2558C>T (p.Ser853Phe) c.7346C>T (p.Ser2449Phe) c.*7088C>T (n.*7088C>T) n.5780C>T c.7457C>T (p.Ser2486Phe) c.7373C>T (p.Ser2458Phe) c.7343C>T (p.Ser2448Phe) c.7295C>T (p.Ser2432Phe) c.7256C>T (p.Ser2419Phe) c.7181C>T (p.Ser2394Phe) n.9052C>T c.7370C>T (p.Ser2457Phe) c.7340C>T (p.Ser2447Phe) c.7292C>T (p.Ser2431Phe) c.7259C>T (p.Ser2420Phe) c.7229C>T (p.Ser2410Phe) c.7226C>T (p.Ser2409Phe) c.7178C>T (p.Ser2393Phe) c.7142C>T (p.Ser2381Phe) c.7139C>T (p.Ser2380Phe) c.7094C>T (p.Ser2365Phe) n.7759C>T | dbSNP |
| X | g.77508370G>C | CA413703455 | ATRX | c.7460C>G (p.Ser2487Cys) c.2558C>G (p.Ser853Cys) c.7346C>G (p.Ser2449Cys) c.*7088C>G (n.*7088C>G) n.5780C>G c.7457C>G (p.Ser2486Cys) c.7373C>G (p.Ser2458Cys) c.7343C>G (p.Ser2448Cys) c.7295C>G (p.Ser2432Cys) c.7256C>G (p.Ser2419Cys) c.7181C>G (p.Ser2394Cys) n.9052C>G c.7370C>G (p.Ser2457Cys) c.7340C>G (p.Ser2447Cys) c.7292C>G (p.Ser2431Cys) c.7259C>G (p.Ser2420Cys) c.7229C>G (p.Ser2410Cys) c.7226C>G (p.Ser2409Cys) c.7178C>G (p.Ser2393Cys) c.7142C>G (p.Ser2381Cys) c.7139C>G (p.Ser2380Cys) c.7094C>G (p.Ser2365Cys) n.7759C>G | |
| X | g.77508370G= | CA2438929019 | ATRX | c.7460C= (p.Ser2487=) c.2558C= (p.Ser853=) c.7346C= (p.Ser2449=) c.*7088C= (n.*7088C=) n.5780C= c.7457C= (p.Ser2486=) c.7373C= (p.Ser2458=) c.7343C= (p.Ser2448=) c.7295C= (p.Ser2432=) c.7256C= (p.Ser2419=) c.7181C= (p.Ser2394=) n.9052C= c.7370C= (p.Ser2457=) c.7340C= (p.Ser2447=) c.7292C= (p.Ser2431=) c.7259C= (p.Ser2420=) c.7229C= (p.Ser2410=) c.7226C= (p.Ser2409=) c.7178C= (p.Ser2393=) c.7142C= (p.Ser2381=) c.7139C= (p.Ser2380=) c.7094C= (p.Ser2365=) n.7759C= | |
| X | g.77508370G>T | CA413703456 | ATRX | c.7460C>A (p.Ser2487Tyr) c.2558C>A (p.Ser853Tyr) c.7346C>A (p.Ser2449Tyr) c.*7088C>A (n.*7088C>A) n.5780C>A c.7457C>A (p.Ser2486Tyr) c.7373C>A (p.Ser2458Tyr) c.7343C>A (p.Ser2448Tyr) c.7295C>A (p.Ser2432Tyr) c.7256C>A (p.Ser2419Tyr) c.7181C>A (p.Ser2394Tyr) n.9052C>A c.7370C>A (p.Ser2457Tyr) c.7340C>A (p.Ser2447Tyr) c.7292C>A (p.Ser2431Tyr) c.7259C>A (p.Ser2420Tyr) c.7229C>A (p.Ser2410Tyr) c.7226C>A (p.Ser2409Tyr) c.7178C>A (p.Ser2393Tyr) c.7142C>A (p.Ser2381Tyr) c.7139C>A (p.Ser2380Tyr) c.7094C>A (p.Ser2365Tyr) n.7759C>A | |
| X | g.77508371A= | CA2438929020 | ATRX | c.7459T= (p.Ser2487=) c.2557T= (p.Ser853=) c.7345T= (p.Ser2449=) c.*7087T= (n.*7087T=) n.5779T= c.7456T= (p.Ser2486=) c.7372T= (p.Ser2458=) c.7342T= (p.Ser2448=) c.7294T= (p.Ser2432=) c.7255T= (p.Ser2419=) c.7180T= (p.Ser2394=) n.9051T= c.7369T= (p.Ser2457=) c.7339T= (p.Ser2447=) c.7291T= (p.Ser2431=) c.7258T= (p.Ser2420=) c.7228T= (p.Ser2410=) c.7225T= (p.Ser2409=) c.7177T= (p.Ser2393=) c.7141T= (p.Ser2381=) c.7138T= (p.Ser2380=) c.7093T= (p.Ser2365=) n.7758T= | |
| X | g.77508371A>C | CA413703459 | ATRX | c.7459T>G (p.Ser2487Ala) c.2557T>G (p.Ser853Ala) c.7345T>G (p.Ser2449Ala) c.*7087T>G (n.*7087T>G) n.5779T>G c.7456T>G (p.Ser2486Ala) c.7372T>G (p.Ser2458Ala) c.7342T>G (p.Ser2448Ala) c.7294T>G (p.Ser2432Ala) c.7255T>G (p.Ser2419Ala) c.7180T>G (p.Ser2394Ala) n.9051T>G c.7369T>G (p.Ser2457Ala) c.7339T>G (p.Ser2447Ala) c.7291T>G (p.Ser2431Ala) c.7258T>G (p.Ser2420Ala) c.7228T>G (p.Ser2410Ala) c.7225T>G (p.Ser2409Ala) c.7177T>G (p.Ser2393Ala) c.7141T>G (p.Ser2381Ala) c.7138T>G (p.Ser2380Ala) c.7093T>G (p.Ser2365Ala) n.7758T>G | |
| X | g.77508371A>G | CA331560032 | ATRX | c.7459T>C (p.Ser2487Pro) c.2557T>C (p.Ser853Pro) c.7345T>C (p.Ser2449Pro) c.*7087T>C (n.*7087T>C) n.5779T>C c.7456T>C (p.Ser2486Pro) c.7372T>C (p.Ser2458Pro) c.7342T>C (p.Ser2448Pro) c.7294T>C (p.Ser2432Pro) c.7255T>C (p.Ser2419Pro) c.7180T>C (p.Ser2394Pro) n.9051T>C c.7369T>C (p.Ser2457Pro) c.7339T>C (p.Ser2447Pro) c.7291T>C (p.Ser2431Pro) c.7258T>C (p.Ser2420Pro) c.7228T>C (p.Ser2410Pro) c.7225T>C (p.Ser2409Pro) c.7177T>C (p.Ser2393Pro) c.7141T>C (p.Ser2381Pro) c.7138T>C (p.Ser2380Pro) c.7093T>C (p.Ser2365Pro) n.7758T>C | dbSNP |
| X | g.77508371A>T | CA413703457 | ATRX | c.7459T>A (p.Ser2487Thr) c.2557T>A (p.Ser853Thr) c.7345T>A (p.Ser2449Thr) c.*7087T>A (n.*7087T>A) n.5779T>A c.7456T>A (p.Ser2486Thr) c.7372T>A (p.Ser2458Thr) c.7342T>A (p.Ser2448Thr) c.7294T>A (p.Ser2432Thr) c.7255T>A (p.Ser2419Thr) c.7180T>A (p.Ser2394Thr) n.9051T>A c.7369T>A (p.Ser2457Thr) c.7339T>A (p.Ser2447Thr) c.7291T>A (p.Ser2431Thr) c.7258T>A (p.Ser2420Thr) c.7228T>A (p.Ser2410Thr) c.7225T>A (p.Ser2409Thr) c.7177T>A (p.Ser2393Thr) c.7141T>A (p.Ser2381Thr) c.7138T>A (p.Ser2380Thr) c.7093T>A (p.Ser2365Thr) n.7758T>A | |
| X | g.77508372A>C | CA517373971 | ATRX | c.7458T>G (p.Pro2486=) c.2556T>G (p.Pro852=) c.7344T>G (p.Pro2448=) c.*7086T>G (n.*7086T>G) n.5778T>G c.7455T>G (p.Pro2485=) c.7371T>G (p.Pro2457=) c.7341T>G (p.Pro2447=) c.7293T>G (p.Pro2431=) c.7254T>G (p.Pro2418=) c.7179T>G (p.Pro2393=) n.9050T>G c.7368T>G (p.Pro2456=) c.7338T>G (p.Pro2446=) c.7290T>G (p.Pro2430=) c.7257T>G (p.Pro2419=) c.7227T>G (p.Pro2409=) c.7224T>G (p.Pro2408=) c.7176T>G (p.Pro2392=) c.7140T>G (p.Pro2380=) c.7137T>G (p.Pro2379=) c.7092T>G (p.Pro2364=) n.7757T>G | |
| X | g.77508372A>G | CA517373969 | ATRX | c.7458T>C (p.Pro2486=) c.2556T>C (p.Pro852=) c.7344T>C (p.Pro2448=) c.*7086T>C (n.*7086T>C) n.5778T>C c.7455T>C (p.Pro2485=) c.7371T>C (p.Pro2457=) c.7341T>C (p.Pro2447=) c.7293T>C (p.Pro2431=) c.7254T>C (p.Pro2418=) c.7179T>C (p.Pro2393=) n.9050T>C c.7368T>C (p.Pro2456=) c.7338T>C (p.Pro2446=) c.7290T>C (p.Pro2430=) c.7257T>C (p.Pro2419=) c.7227T>C (p.Pro2409=) c.7224T>C (p.Pro2408=) c.7176T>C (p.Pro2392=) c.7140T>C (p.Pro2380=) c.7137T>C (p.Pro2379=) c.7092T>C (p.Pro2364=) n.7757T>C | |
| X | g.77508372A>T | CA517373970 | ATRX | c.7458T>A (p.Pro2486=) c.2556T>A (p.Pro852=) c.7344T>A (p.Pro2448=) c.*7086T>A (n.*7086T>A) n.5778T>A c.7455T>A (p.Pro2485=) c.7371T>A (p.Pro2457=) c.7341T>A (p.Pro2447=) c.7293T>A (p.Pro2431=) c.7254T>A (p.Pro2418=) c.7179T>A (p.Pro2393=) n.9050T>A c.7368T>A (p.Pro2456=) c.7338T>A (p.Pro2446=) c.7290T>A (p.Pro2430=) c.7257T>A (p.Pro2419=) c.7227T>A (p.Pro2409=) c.7224T>A (p.Pro2408=) c.7176T>A (p.Pro2392=) c.7140T>A (p.Pro2380=) c.7137T>A (p.Pro2379=) c.7092T>A (p.Pro2364=) n.7757T>A | |
| X | g.77508373G>A | CA413703467 | ATRX | c.7457C>T (p.Pro2486Leu) c.2555C>T (p.Pro852Leu) c.7343C>T (p.Pro2448Leu) c.*7085C>T (n.*7085C>T) n.5777C>T c.7454C>T (p.Pro2485Leu) c.7370C>T (p.Pro2457Leu) c.7340C>T (p.Pro2447Leu) c.7292C>T (p.Pro2431Leu) c.7253C>T (p.Pro2418Leu) c.7178C>T (p.Pro2393Leu) n.9049C>T c.7367C>T (p.Pro2456Leu) c.7337C>T (p.Pro2446Leu) c.7289C>T (p.Pro2430Leu) c.7256C>T (p.Pro2419Leu) c.7226C>T (p.Pro2409Leu) c.7223C>T (p.Pro2408Leu) c.7175C>T (p.Pro2392Leu) c.7139C>T (p.Pro2380Leu) c.7136C>T (p.Pro2379Leu) c.7091C>T (p.Pro2364Leu) n.7756C>T | |
| X | g.77508373G>C | CA413703463 | ATRX | c.7457C>G (p.Pro2486Arg) c.2555C>G (p.Pro852Arg) c.7343C>G (p.Pro2448Arg) c.*7085C>G (n.*7085C>G) n.5777C>G c.7454C>G (p.Pro2485Arg) c.7370C>G (p.Pro2457Arg) c.7340C>G (p.Pro2447Arg) c.7292C>G (p.Pro2431Arg) c.7253C>G (p.Pro2418Arg) c.7178C>G (p.Pro2393Arg) n.9049C>G c.7367C>G (p.Pro2456Arg) c.7337C>G (p.Pro2446Arg) c.7289C>G (p.Pro2430Arg) c.7256C>G (p.Pro2419Arg) c.7226C>G (p.Pro2409Arg) c.7223C>G (p.Pro2408Arg) c.7175C>G (p.Pro2392Arg) c.7139C>G (p.Pro2380Arg) c.7136C>G (p.Pro2379Arg) c.7091C>G (p.Pro2364Arg) n.7756C>G | |
| X | g.77508373G>T | CA413703465 | ATRX | c.7457C>A (p.Pro2486His) c.2555C>A (p.Pro852His) c.7343C>A (p.Pro2448His) c.*7085C>A (n.*7085C>A) n.5777C>A c.7454C>A (p.Pro2485His) c.7370C>A (p.Pro2457His) c.7340C>A (p.Pro2447His) c.7292C>A (p.Pro2431His) c.7253C>A (p.Pro2418His) c.7178C>A (p.Pro2393His) n.9049C>A c.7367C>A (p.Pro2456His) c.7337C>A (p.Pro2446His) c.7289C>A (p.Pro2430His) c.7256C>A (p.Pro2419His) c.7226C>A (p.Pro2409His) c.7223C>A (p.Pro2408His) c.7175C>A (p.Pro2392His) c.7139C>A (p.Pro2380His) c.7136C>A (p.Pro2379His) c.7091C>A (p.Pro2364His) n.7756C>A | |
| X | g.77508374G>A | CA413703470 | ATRX | c.7456C>T (p.Pro2486Ser) c.2554C>T (p.Pro852Ser) c.7342C>T (p.Pro2448Ser) c.*7084C>T (n.*7084C>T) n.5776C>T c.7453C>T (p.Pro2485Ser) c.7369C>T (p.Pro2457Ser) c.7339C>T (p.Pro2447Ser) c.7291C>T (p.Pro2431Ser) c.7252C>T (p.Pro2418Ser) c.7177C>T (p.Pro2393Ser) n.9048C>T c.7366C>T (p.Pro2456Ser) c.7336C>T (p.Pro2446Ser) c.7288C>T (p.Pro2430Ser) c.7255C>T (p.Pro2419Ser) c.7225C>T (p.Pro2409Ser) c.7222C>T (p.Pro2408Ser) c.7174C>T (p.Pro2392Ser) c.7138C>T (p.Pro2380Ser) c.7135C>T (p.Pro2379Ser) c.7090C>T (p.Pro2364Ser) n.7755C>T | |
| X | g.77508374G>C | CA413703473 | ATRX | c.7456C>G (p.Pro2486Ala) c.2554C>G (p.Pro852Ala) c.7342C>G (p.Pro2448Ala) c.*7084C>G (n.*7084C>G) n.5776C>G c.7453C>G (p.Pro2485Ala) c.7369C>G (p.Pro2457Ala) c.7339C>G (p.Pro2447Ala) c.7291C>G (p.Pro2431Ala) c.7252C>G (p.Pro2418Ala) c.7177C>G (p.Pro2393Ala) n.9048C>G c.7366C>G (p.Pro2456Ala) c.7336C>G (p.Pro2446Ala) c.7288C>G (p.Pro2430Ala) c.7255C>G (p.Pro2419Ala) c.7225C>G (p.Pro2409Ala) c.7222C>G (p.Pro2408Ala) c.7174C>G (p.Pro2392Ala) c.7138C>G (p.Pro2380Ala) c.7135C>G (p.Pro2379Ala) c.7090C>G (p.Pro2364Ala) n.7755C>G | |
| X | g.77508374G>T | CA413703476 | ATRX | c.7456C>A (p.Pro2486Thr) c.2554C>A (p.Pro852Thr) c.7342C>A (p.Pro2448Thr) c.*7084C>A (n.*7084C>A) n.5776C>A c.7453C>A (p.Pro2485Thr) c.7369C>A (p.Pro2457Thr) c.7339C>A (p.Pro2447Thr) c.7291C>A (p.Pro2431Thr) c.7252C>A (p.Pro2418Thr) c.7177C>A (p.Pro2393Thr) n.9048C>A c.7366C>A (p.Pro2456Thr) c.7336C>A (p.Pro2446Thr) c.7288C>A (p.Pro2430Thr) c.7255C>A (p.Pro2419Thr) c.7225C>A (p.Pro2409Thr) c.7222C>A (p.Pro2408Thr) c.7174C>A (p.Pro2392Thr) c.7138C>A (p.Pro2380Thr) c.7135C>A (p.Pro2379Thr) c.7090C>A (p.Pro2364Thr) n.7755C>A | |
| X | g.77508375T>A | CA517373973 | ATRX | c.7455A>T (p.Gly2485=) c.2553A>T (p.Gly851=) c.7341A>T (p.Gly2447=) c.*7083A>T (n.*7083A>T) n.5775A>T c.7452A>T (p.Gly2484=) c.7368A>T (p.Gly2456=) c.7338A>T (p.Gly2446=) c.7290A>T (p.Gly2430=) c.7251A>T (p.Gly2417=) c.7176A>T (p.Gly2392=) n.9047A>T c.7365A>T (p.Gly2455=) c.7335A>T (p.Gly2445=) c.7287A>T (p.Gly2429=) c.7254A>T (p.Gly2418=) c.7224A>T (p.Gly2408=) c.7221A>T (p.Gly2407=) c.7173A>T (p.Gly2391=) c.7137A>T (p.Gly2379=) c.7134A>T (p.Gly2378=) c.7089A>T (p.Gly2363=) n.7754A>T | |
| X | g.77508375T>C | CA517373974 | ATRX | c.7455A>G (p.Gly2485=) c.2553A>G (p.Gly851=) c.7341A>G (p.Gly2447=) c.*7083A>G (n.*7083A>G) n.5775A>G c.7452A>G (p.Gly2484=) c.7368A>G (p.Gly2456=) c.7338A>G (p.Gly2446=) c.7290A>G (p.Gly2430=) c.7251A>G (p.Gly2417=) c.7176A>G (p.Gly2392=) n.9047A>G c.7365A>G (p.Gly2455=) c.7335A>G (p.Gly2445=) c.7287A>G (p.Gly2429=) c.7254A>G (p.Gly2418=) c.7224A>G (p.Gly2408=) c.7221A>G (p.Gly2407=) c.7173A>G (p.Gly2391=) c.7137A>G (p.Gly2379=) c.7134A>G (p.Gly2378=) c.7089A>G (p.Gly2363=) n.7754A>G | |
| X | g.77508375T>G | CA517373975 | ATRX | c.7455A>C (p.Gly2485=) c.2553A>C (p.Gly851=) c.7341A>C (p.Gly2447=) c.*7083A>C (n.*7083A>C) n.5775A>C c.7452A>C (p.Gly2484=) c.7368A>C (p.Gly2456=) c.7338A>C (p.Gly2446=) c.7290A>C (p.Gly2430=) c.7251A>C (p.Gly2417=) c.7176A>C (p.Gly2392=) n.9047A>C c.7365A>C (p.Gly2455=) c.7335A>C (p.Gly2445=) c.7287A>C (p.Gly2429=) c.7254A>C (p.Gly2418=) c.7224A>C (p.Gly2408=) c.7221A>C (p.Gly2407=) c.7173A>C (p.Gly2391=) c.7137A>C (p.Gly2379=) c.7134A>C (p.Gly2378=) c.7089A>C (p.Gly2363=) n.7754A>C | |
| X | g.77508376C>A | CA413703479 | ATRX | c.7454G>T (p.Gly2485Val) c.2552G>T (p.Gly851Val) c.7340G>T (p.Gly2447Val) c.*7082G>T (n.*7082G>T) n.5774G>T c.7451G>T (p.Gly2484Val) c.7367G>T (p.Gly2456Val) c.7337G>T (p.Gly2446Val) c.7289G>T (p.Gly2430Val) c.7250G>T (p.Gly2417Val) c.7175G>T (p.Gly2392Val) n.9046G>T c.7364G>T (p.Gly2455Val) c.7334G>T (p.Gly2445Val) c.7286G>T (p.Gly2429Val) c.7253G>T (p.Gly2418Val) c.7223G>T (p.Gly2408Val) c.7220G>T (p.Gly2407Val) c.7172G>T (p.Gly2391Val) c.7136G>T (p.Gly2379Val) c.7133G>T (p.Gly2378Val) c.7088G>T (p.Gly2363Val) n.7753G>T | |
| X | g.77508376C= | CA2438929021 | ATRX | c.7454G= (p.Gly2485=) c.2552G= (p.Gly851=) c.7340G= (p.Gly2447=) c.*7082G= (n.*7082G=) n.5774G= c.7451G= (p.Gly2484=) c.7367G= (p.Gly2456=) c.7337G= (p.Gly2446=) c.7289G= (p.Gly2430=) c.7250G= (p.Gly2417=) c.7175G= (p.Gly2392=) n.9046G= c.7364G= (p.Gly2455=) c.7334G= (p.Gly2445=) c.7286G= (p.Gly2429=) c.7253G= (p.Gly2418=) c.7223G= (p.Gly2408=) c.7220G= (p.Gly2407=) c.7172G= (p.Gly2391=) c.7136G= (p.Gly2379=) c.7133G= (p.Gly2378=) c.7088G= (p.Gly2363=) n.7753G= | |
| X | g.77508376C>G | CA413703481 | ATRX | c.7454G>C (p.Gly2485Ala) c.2552G>C (p.Gly851Ala) c.7340G>C (p.Gly2447Ala) c.*7082G>C (n.*7082G>C) n.5774G>C c.7451G>C (p.Gly2484Ala) c.7367G>C (p.Gly2456Ala) c.7337G>C (p.Gly2446Ala) c.7289G>C (p.Gly2430Ala) c.7250G>C (p.Gly2417Ala) c.7175G>C (p.Gly2392Ala) n.9046G>C c.7364G>C (p.Gly2455Ala) c.7334G>C (p.Gly2445Ala) c.7286G>C (p.Gly2429Ala) c.7253G>C (p.Gly2418Ala) c.7223G>C (p.Gly2408Ala) c.7220G>C (p.Gly2407Ala) c.7172G>C (p.Gly2391Ala) c.7136G>C (p.Gly2379Ala) c.7133G>C (p.Gly2378Ala) c.7088G>C (p.Gly2363Ala) n.7753G>C | |
| X | g.77508376C>T | CA10457374 | ATRX | c.7454G>A (p.Gly2485Glu) c.2552G>A (p.Gly851Glu) c.7340G>A (p.Gly2447Glu) c.*7082G>A (n.*7082G>A) n.5774G>A c.7451G>A (p.Gly2484Glu) c.7367G>A (p.Gly2456Glu) c.7337G>A (p.Gly2446Glu) c.7289G>A (p.Gly2430Glu) c.7250G>A (p.Gly2417Glu) c.7175G>A (p.Gly2392Glu) n.9046G>A c.7364G>A (p.Gly2455Glu) c.7334G>A (p.Gly2445Glu) c.7286G>A (p.Gly2429Glu) c.7253G>A (p.Gly2418Glu) c.7223G>A (p.Gly2408Glu) c.7220G>A (p.Gly2407Glu) c.7172G>A (p.Gly2391Glu) c.7136G>A (p.Gly2379Glu) c.7133G>A (p.Gly2378Glu) c.7088G>A (p.Gly2363Glu) n.7753G>A | ClinVar dbSNP ExAC gnomAD v2 |
| X | g.77508377C>A | CA413703487 | ATRX | c.7453G>T (p.Gly2485Ter) c.2551G>T (p.Gly851Ter) c.7339G>T (p.Gly2447Ter) c.*7081G>T (n.*7081G>T) n.5773G>T c.7450G>T (p.Gly2484Ter) c.7366G>T (p.Gly2456Ter) c.7336G>T (p.Gly2446Ter) c.7288G>T (p.Gly2430Ter) c.7249G>T (p.Gly2417Ter) c.7174G>T (p.Gly2392Ter) n.9045G>T c.7363G>T (p.Gly2455Ter) c.7333G>T (p.Gly2445Ter) c.7285G>T (p.Gly2429Ter) c.7252G>T (p.Gly2418Ter) c.7222G>T (p.Gly2408Ter) c.7219G>T (p.Gly2407Ter) c.7171G>T (p.Gly2391Ter) c.7135G>T (p.Gly2379Ter) c.7132G>T (p.Gly2378Ter) c.7087G>T (p.Gly2363Ter) n.7752G>T | |
| X | g.77508377C>G | CA413703489 | ATRX | c.7453G>C (p.Gly2485Arg) c.2551G>C (p.Gly851Arg) c.7339G>C (p.Gly2447Arg) c.*7081G>C (n.*7081G>C) n.5773G>C c.7450G>C (p.Gly2484Arg) c.7366G>C (p.Gly2456Arg) c.7336G>C (p.Gly2446Arg) c.7288G>C (p.Gly2430Arg) c.7249G>C (p.Gly2417Arg) c.7174G>C (p.Gly2392Arg) n.9045G>C c.7363G>C (p.Gly2455Arg) c.7333G>C (p.Gly2445Arg) c.7285G>C (p.Gly2429Arg) c.7252G>C (p.Gly2418Arg) c.7222G>C (p.Gly2408Arg) c.7219G>C (p.Gly2407Arg) c.7171G>C (p.Gly2391Arg) c.7135G>C (p.Gly2379Arg) c.7132G>C (p.Gly2378Arg) c.7087G>C (p.Gly2363Arg) n.7752G>C | |
| X | g.77508377C>T | CA413703490 | ATRX | c.7453G>A (p.Gly2485Arg) c.2551G>A (p.Gly851Arg) c.7339G>A (p.Gly2447Arg) c.*7081G>A (n.*7081G>A) n.5773G>A c.7450G>A (p.Gly2484Arg) c.7366G>A (p.Gly2456Arg) c.7336G>A (p.Gly2446Arg) c.7288G>A (p.Gly2430Arg) c.7249G>A (p.Gly2417Arg) c.7174G>A (p.Gly2392Arg) n.9045G>A c.7363G>A (p.Gly2455Arg) c.7333G>A (p.Gly2445Arg) c.7285G>A (p.Gly2429Arg) c.7252G>A (p.Gly2418Arg) c.7222G>A (p.Gly2408Arg) c.7219G>A (p.Gly2407Arg) c.7171G>A (p.Gly2391Arg) c.7135G>A (p.Gly2379Arg) c.7132G>A (p.Gly2378Arg) c.7087G>A (p.Gly2363Arg) n.7752G>A | |
| X | g.77508378T>A | CA517373977 | ATRX | c.7452A>T (p.Pro2484=) c.2550A>T (p.Pro850=) c.7338A>T (p.Pro2446=) c.*7080A>T (n.*7080A>T) n.5772A>T c.7449A>T (p.Pro2483=) c.7365A>T (p.Pro2455=) c.7335A>T (p.Pro2445=) c.7287A>T (p.Pro2429=) c.7248A>T (p.Pro2416=) c.7173A>T (p.Pro2391=) n.9044A>T c.7362A>T (p.Pro2454=) c.7332A>T (p.Pro2444=) c.7284A>T (p.Pro2428=) c.7251A>T (p.Pro2417=) c.7221A>T (p.Pro2407=) c.7218A>T (p.Pro2406=) c.7170A>T (p.Pro2390=) c.7134A>T (p.Pro2378=) c.7131A>T (p.Pro2377=) c.7086A>T (p.Pro2362=) n.7751A>T | |
| X | g.77508378T>C | CA517373978 | ATRX | c.7452A>G (p.Pro2484=) c.2550A>G (p.Pro850=) c.7338A>G (p.Pro2446=) c.*7080A>G (n.*7080A>G) n.5772A>G c.7449A>G (p.Pro2483=) c.7365A>G (p.Pro2455=) c.7335A>G (p.Pro2445=) c.7287A>G (p.Pro2429=) c.7248A>G (p.Pro2416=) c.7173A>G (p.Pro2391=) n.9044A>G c.7362A>G (p.Pro2454=) c.7332A>G (p.Pro2444=) c.7284A>G (p.Pro2428=) c.7251A>G (p.Pro2417=) c.7221A>G (p.Pro2407=) c.7218A>G (p.Pro2406=) c.7170A>G (p.Pro2390=) c.7134A>G (p.Pro2378=) c.7131A>G (p.Pro2377=) c.7086A>G (p.Pro2362=) n.7751A>G | |
| X | g.77508378T>G | CA517373979 | ATRX | c.7452A>C (p.Pro2484=) c.2550A>C (p.Pro850=) c.7338A>C (p.Pro2446=) c.*7080A>C (n.*7080A>C) n.5772A>C c.7449A>C (p.Pro2483=) c.7365A>C (p.Pro2455=) c.7335A>C (p.Pro2445=) c.7287A>C (p.Pro2429=) c.7248A>C (p.Pro2416=) c.7173A>C (p.Pro2391=) n.9044A>C c.7362A>C (p.Pro2454=) c.7332A>C (p.Pro2444=) c.7284A>C (p.Pro2428=) c.7251A>C (p.Pro2417=) c.7221A>C (p.Pro2407=) c.7218A>C (p.Pro2406=) c.7170A>C (p.Pro2390=) c.7134A>C (p.Pro2378=) c.7131A>C (p.Pro2377=) c.7086A>C (p.Pro2362=) n.7751A>C | |
| X | g.77508379G>A | CA413703497 | ATRX | c.7451C>T (p.Pro2484Leu) c.2549C>T (p.Pro850Leu) c.7337C>T (p.Pro2446Leu) c.*7079C>T (n.*7079C>T) n.5771C>T c.7448C>T (p.Pro2483Leu) c.7364C>T (p.Pro2455Leu) c.7334C>T (p.Pro2445Leu) c.7286C>T (p.Pro2429Leu) c.7247C>T (p.Pro2416Leu) c.7172C>T (p.Pro2391Leu) n.9043C>T c.7361C>T (p.Pro2454Leu) c.7331C>T (p.Pro2444Leu) c.7283C>T (p.Pro2428Leu) c.7250C>T (p.Pro2417Leu) c.7220C>T (p.Pro2407Leu) c.7217C>T (p.Pro2406Leu) c.7169C>T (p.Pro2390Leu) c.7133C>T (p.Pro2378Leu) c.7130C>T (p.Pro2377Leu) c.7085C>T (p.Pro2362Leu) n.7750C>T | |
| X | g.77508379G>C | CA413703493 | ATRX | c.7451C>G (p.Pro2484Arg) c.2549C>G (p.Pro850Arg) c.7337C>G (p.Pro2446Arg) c.*7079C>G (n.*7079C>G) n.5771C>G c.7448C>G (p.Pro2483Arg) c.7364C>G (p.Pro2455Arg) c.7334C>G (p.Pro2445Arg) c.7286C>G (p.Pro2429Arg) c.7247C>G (p.Pro2416Arg) c.7172C>G (p.Pro2391Arg) n.9043C>G c.7361C>G (p.Pro2454Arg) c.7331C>G (p.Pro2444Arg) c.7283C>G (p.Pro2428Arg) c.7250C>G (p.Pro2417Arg) c.7220C>G (p.Pro2407Arg) c.7217C>G (p.Pro2406Arg) c.7169C>G (p.Pro2390Arg) c.7133C>G (p.Pro2378Arg) c.7130C>G (p.Pro2377Arg) c.7085C>G (p.Pro2362Arg) n.7750C>G | dbSNP |
| X | g.77508379G>T | CA413703491 | ATRX | c.7451C>A (p.Pro2484Gln) c.2549C>A (p.Pro850Gln) c.7337C>A (p.Pro2446Gln) c.*7079C>A (n.*7079C>A) n.5771C>A c.7448C>A (p.Pro2483Gln) c.7364C>A (p.Pro2455Gln) c.7334C>A (p.Pro2445Gln) c.7286C>A (p.Pro2429Gln) c.7247C>A (p.Pro2416Gln) c.7172C>A (p.Pro2391Gln) n.9043C>A c.7361C>A (p.Pro2454Gln) c.7331C>A (p.Pro2444Gln) c.7283C>A (p.Pro2428Gln) c.7250C>A (p.Pro2417Gln) c.7220C>A (p.Pro2407Gln) c.7217C>A (p.Pro2406Gln) c.7169C>A (p.Pro2390Gln) c.7133C>A (p.Pro2378Gln) c.7130C>A (p.Pro2377Gln) c.7085C>A (p.Pro2362Gln) n.7750C>A | |
| X | g.77508380G>A | CA413703500 | ATRX | c.7450C>T (p.Pro2484Ser) c.2548C>T (p.Pro850Ser) c.7336C>T (p.Pro2446Ser) c.*7078C>T (n.*7078C>T) n.5770C>T c.7447C>T (p.Pro2483Ser) c.7363C>T (p.Pro2455Ser) c.7333C>T (p.Pro2445Ser) c.7285C>T (p.Pro2429Ser) c.7246C>T (p.Pro2416Ser) c.7171C>T (p.Pro2391Ser) n.9042C>T c.7360C>T (p.Pro2454Ser) c.7330C>T (p.Pro2444Ser) c.7282C>T (p.Pro2428Ser) c.7249C>T (p.Pro2417Ser) c.7219C>T (p.Pro2407Ser) c.7216C>T (p.Pro2406Ser) c.7168C>T (p.Pro2390Ser) c.7132C>T (p.Pro2378Ser) c.7129C>T (p.Pro2377Ser) c.7084C>T (p.Pro2362Ser) n.7749C>T | |
| X | g.77508380G>C | CA413703503 | ATRX | c.7450C>G (p.Pro2484Ala) c.2548C>G (p.Pro850Ala) c.7336C>G (p.Pro2446Ala) c.*7078C>G (n.*7078C>G) n.5770C>G c.7447C>G (p.Pro2483Ala) c.7363C>G (p.Pro2455Ala) c.7333C>G (p.Pro2445Ala) c.7285C>G (p.Pro2429Ala) c.7246C>G (p.Pro2416Ala) c.7171C>G (p.Pro2391Ala) n.9042C>G c.7360C>G (p.Pro2454Ala) c.7330C>G (p.Pro2444Ala) c.7282C>G (p.Pro2428Ala) c.7249C>G (p.Pro2417Ala) c.7219C>G (p.Pro2407Ala) c.7216C>G (p.Pro2406Ala) c.7168C>G (p.Pro2390Ala) c.7132C>G (p.Pro2378Ala) c.7129C>G (p.Pro2377Ala) c.7084C>G (p.Pro2362Ala) n.7749C>G | gnomAD v4 |