Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
X | g.77508380G>T | CA413703506 | ATRX | c.7450C>A (p.Pro2484Thr) c.2548C>A (p.Pro850Thr) c.7336C>A (p.Pro2446Thr) c.*7078C>A (n.*7078C>A) n.5770C>A c.7447C>A (p.Pro2483Thr) c.7363C>A (p.Pro2455Thr) c.7333C>A (p.Pro2445Thr) c.7285C>A (p.Pro2429Thr) c.7246C>A (p.Pro2416Thr) c.7171C>A (p.Pro2391Thr) n.9042C>A c.7360C>A (p.Pro2454Thr) c.7330C>A (p.Pro2444Thr) c.7282C>A (p.Pro2428Thr) c.7249C>A (p.Pro2417Thr) c.7219C>A (p.Pro2407Thr) c.7216C>A (p.Pro2406Thr) c.7168C>A (p.Pro2390Thr) c.7132C>A (p.Pro2378Thr) c.7129C>A (p.Pro2377Thr) c.7084C>A (p.Pro2362Thr) n.7749C>A | |
X | g.77508381del | CA645602237 | ATRX | c.7449del (p.Pro2484GlnfsTer16) c.2547del (p.Pro850GlnfsTer16) c.7335del (p.Pro2446GlnfsTer16) c.*7077del (n.*7077del) n.5769del c.7446del (p.Pro2483GlnfsTer16) c.7362del (p.Pro2455GlnfsTer16) c.7332del (p.Pro2445GlnfsTer16) c.7284del (p.Pro2429GlnfsTer16) c.7245del (p.Pro2416GlnfsTer16) c.7170del (p.Pro2391GlnfsTer16) n.9041del c.7359del (p.Pro2454GlnfsTer16) c.7329del (p.Pro2444GlnfsTer16) c.7281del (p.Pro2428GlnfsTer16) c.7248del (p.Pro2417GlnfsTer16) c.7218del (p.Pro2407GlnfsTer16) c.7215del (p.Pro2406GlnfsTer16) c.7167del (p.Pro2390GlnfsTer16) c.7131del (p.Pro2378GlnfsTer16) c.7128del (p.Pro2377GlnfsTer16) c.7083del (p.Pro2362GlnfsTer16) n.7748del | COSMIC |
X | g.77508381A>C | CA413703509 | ATRX | c.7449T>G (p.Asn2483Lys) c.2547T>G (p.Asn849Lys) c.7335T>G (p.Asn2445Lys) c.*7077T>G (n.*7077T>G) n.5769T>G c.7446T>G (p.Asn2482Lys) c.7362T>G (p.Asn2454Lys) c.7332T>G (p.Asn2444Lys) c.7284T>G (p.Asn2428Lys) c.7245T>G (p.Asn2415Lys) c.7170T>G (p.Asn2390Lys) n.9041T>G c.7359T>G (p.Asn2453Lys) c.7329T>G (p.Asn2443Lys) c.7281T>G (p.Asn2427Lys) c.7248T>G (p.Asn2416Lys) c.7218T>G (p.Asn2406Lys) c.7215T>G (p.Asn2405Lys) c.7167T>G (p.Asn2389Lys) c.7131T>G (p.Asn2377Lys) c.7128T>G (p.Asn2376Lys) c.7083T>G (p.Asn2361Lys) n.7748T>G | |
X | g.77508381A>G | CA517373981 | ATRX | c.7449T>C (p.Asn2483=) c.2547T>C (p.Asn849=) c.7335T>C (p.Asn2445=) c.*7077T>C (n.*7077T>C) n.5769T>C c.7446T>C (p.Asn2482=) c.7362T>C (p.Asn2454=) c.7332T>C (p.Asn2444=) c.7284T>C (p.Asn2428=) c.7245T>C (p.Asn2415=) c.7170T>C (p.Asn2390=) n.9041T>C c.7359T>C (p.Asn2453=) c.7329T>C (p.Asn2443=) c.7281T>C (p.Asn2427=) c.7248T>C (p.Asn2416=) c.7218T>C (p.Asn2406=) c.7215T>C (p.Asn2405=) c.7167T>C (p.Asn2389=) c.7131T>C (p.Asn2377=) c.7128T>C (p.Asn2376=) c.7083T>C (p.Asn2361=) n.7748T>C | |
X | g.77508381A>T | CA413703510 | ATRX | c.7449T>A (p.Asn2483Lys) c.2547T>A (p.Asn849Lys) c.7335T>A (p.Asn2445Lys) c.*7077T>A (n.*7077T>A) n.5769T>A c.7446T>A (p.Asn2482Lys) c.7362T>A (p.Asn2454Lys) c.7332T>A (p.Asn2444Lys) c.7284T>A (p.Asn2428Lys) c.7245T>A (p.Asn2415Lys) c.7170T>A (p.Asn2390Lys) n.9041T>A c.7359T>A (p.Asn2453Lys) c.7329T>A (p.Asn2443Lys) c.7281T>A (p.Asn2427Lys) c.7248T>A (p.Asn2416Lys) c.7218T>A (p.Asn2406Lys) c.7215T>A (p.Asn2405Lys) c.7167T>A (p.Asn2389Lys) c.7131T>A (p.Asn2377Lys) c.7128T>A (p.Asn2376Lys) c.7083T>A (p.Asn2361Lys) n.7748T>A | |
X | g.77508382T>A | CA413703515 | ATRX | c.7448A>T (p.Asn2483Ile) c.2546A>T (p.Asn849Ile) c.7334A>T (p.Asn2445Ile) c.*7076A>T (n.*7076A>T) n.5768A>T c.7445A>T (p.Asn2482Ile) c.7361A>T (p.Asn2454Ile) c.7331A>T (p.Asn2444Ile) c.7283A>T (p.Asn2428Ile) c.7244A>T (p.Asn2415Ile) c.7169A>T (p.Asn2390Ile) n.9040A>T c.7358A>T (p.Asn2453Ile) c.7328A>T (p.Asn2443Ile) c.7280A>T (p.Asn2427Ile) c.7247A>T (p.Asn2416Ile) c.7217A>T (p.Asn2406Ile) c.7214A>T (p.Asn2405Ile) c.7166A>T (p.Asn2389Ile) c.7130A>T (p.Asn2377Ile) c.7127A>T (p.Asn2376Ile) c.7082A>T (p.Asn2361Ile) n.7747A>T | |
X | g.77508382T>C | CA413703518 | ATRX | c.7448A>G (p.Asn2483Ser) c.2546A>G (p.Asn849Ser) c.7334A>G (p.Asn2445Ser) c.*7076A>G (n.*7076A>G) n.5768A>G c.7445A>G (p.Asn2482Ser) c.7361A>G (p.Asn2454Ser) c.7331A>G (p.Asn2444Ser) c.7283A>G (p.Asn2428Ser) c.7244A>G (p.Asn2415Ser) c.7169A>G (p.Asn2390Ser) n.9040A>G c.7358A>G (p.Asn2453Ser) c.7328A>G (p.Asn2443Ser) c.7280A>G (p.Asn2427Ser) c.7247A>G (p.Asn2416Ser) c.7217A>G (p.Asn2406Ser) c.7214A>G (p.Asn2405Ser) c.7166A>G (p.Asn2389Ser) c.7130A>G (p.Asn2377Ser) c.7127A>G (p.Asn2376Ser) c.7082A>G (p.Asn2361Ser) n.7747A>G | |
X | g.77508382T>G | CA413703521 | ATRX | c.7448A>C (p.Asn2483Thr) c.2546A>C (p.Asn849Thr) c.7334A>C (p.Asn2445Thr) c.*7076A>C (n.*7076A>C) n.5768A>C c.7445A>C (p.Asn2482Thr) c.7361A>C (p.Asn2454Thr) c.7331A>C (p.Asn2444Thr) c.7283A>C (p.Asn2428Thr) c.7244A>C (p.Asn2415Thr) c.7169A>C (p.Asn2390Thr) n.9040A>C c.7358A>C (p.Asn2453Thr) c.7328A>C (p.Asn2443Thr) c.7280A>C (p.Asn2427Thr) c.7247A>C (p.Asn2416Thr) c.7217A>C (p.Asn2406Thr) c.7214A>C (p.Asn2405Thr) c.7166A>C (p.Asn2389Thr) c.7130A>C (p.Asn2377Thr) c.7127A>C (p.Asn2376Thr) c.7082A>C (p.Asn2361Thr) n.7747A>C | |
X | g.77508386dup | CA2579648637 | ATRX | c.7448dup (p.Asn2483LysfsTer15) c.2546dup (p.Asn849LysfsTer15) c.7334dup (p.Asn2445LysfsTer15) c.*7076dup (n.*7076dup) n.5768dup c.7445dup (p.Asn2482LysfsTer15) c.7361dup (p.Asn2454LysfsTer15) c.7331dup (p.Asn2444LysfsTer15) c.7283dup (p.Asn2428LysfsTer15) c.7244dup (p.Asn2415LysfsTer15) c.7169dup (p.Asn2390LysfsTer15) n.9040dup c.7358dup (p.Asn2453LysfsTer15) c.7328dup (p.Asn2443LysfsTer15) c.7280dup (p.Asn2427LysfsTer15) c.7247dup (p.Asn2416LysfsTer15) c.7217dup (p.Asn2406LysfsTer15) c.7214dup (p.Asn2405LysfsTer15) c.7166dup (p.Asn2389LysfsTer15) c.7130dup (p.Asn2377LysfsTer15) c.7127dup (p.Asn2376LysfsTer15) c.7082dup (p.Asn2361LysfsTer15) n.7747dup | |
X | g.77508383T>A | CA413703524 | ATRX | c.7447A>T (p.Asn2483Tyr) c.2545A>T (p.Asn849Tyr) c.7333A>T (p.Asn2445Tyr) c.*7075A>T (n.*7075A>T) n.5767A>T c.7444A>T (p.Asn2482Tyr) c.7360A>T (p.Asn2454Tyr) c.7330A>T (p.Asn2444Tyr) c.7282A>T (p.Asn2428Tyr) c.7243A>T (p.Asn2415Tyr) c.7168A>T (p.Asn2390Tyr) n.9039A>T c.7357A>T (p.Asn2453Tyr) c.7327A>T (p.Asn2443Tyr) c.7279A>T (p.Asn2427Tyr) c.7246A>T (p.Asn2416Tyr) c.7216A>T (p.Asn2406Tyr) c.7213A>T (p.Asn2405Tyr) c.7165A>T (p.Asn2389Tyr) c.7129A>T (p.Asn2377Tyr) c.7126A>T (p.Asn2376Tyr) c.7081A>T (p.Asn2361Tyr) n.7746A>T | |
X | g.77508383T>C | CA413703527 | ATRX | c.7447A>G (p.Asn2483Asp) c.2545A>G (p.Asn849Asp) c.7333A>G (p.Asn2445Asp) c.*7075A>G (n.*7075A>G) n.5767A>G c.7444A>G (p.Asn2482Asp) c.7360A>G (p.Asn2454Asp) c.7330A>G (p.Asn2444Asp) c.7282A>G (p.Asn2428Asp) c.7243A>G (p.Asn2415Asp) c.7168A>G (p.Asn2390Asp) n.9039A>G c.7357A>G (p.Asn2453Asp) c.7327A>G (p.Asn2443Asp) c.7279A>G (p.Asn2427Asp) c.7246A>G (p.Asn2416Asp) c.7216A>G (p.Asn2406Asp) c.7213A>G (p.Asn2405Asp) c.7165A>G (p.Asn2389Asp) c.7129A>G (p.Asn2377Asp) c.7126A>G (p.Asn2376Asp) c.7081A>G (p.Asn2361Asp) n.7746A>G | |
X | g.77508383T>G | CA413703530 | ATRX | c.7447A>C (p.Asn2483His) c.2545A>C (p.Asn849His) c.7333A>C (p.Asn2445His) c.*7075A>C (n.*7075A>C) n.5767A>C c.7444A>C (p.Asn2482His) c.7360A>C (p.Asn2454His) c.7330A>C (p.Asn2444His) c.7282A>C (p.Asn2428His) c.7243A>C (p.Asn2415His) c.7168A>C (p.Asn2390His) n.9039A>C c.7357A>C (p.Asn2453His) c.7327A>C (p.Asn2443His) c.7279A>C (p.Asn2427His) c.7246A>C (p.Asn2416His) c.7216A>C (p.Asn2406His) c.7213A>C (p.Asn2405His) c.7165A>C (p.Asn2389His) c.7129A>C (p.Asn2377His) c.7126A>C (p.Asn2376His) c.7081A>C (p.Asn2361His) n.7746A>C | |
X | g.77508384T>A | CA413703533 | ATRX | c.7446A>T (p.Lys2482Asn) c.2544A>T (p.Lys848Asn) c.7332A>T (p.Lys2444Asn) c.*7074A>T (n.*7074A>T) n.5766A>T c.7443A>T (p.Lys2481Asn) c.7359A>T (p.Lys2453Asn) c.7329A>T (p.Lys2443Asn) c.7281A>T (p.Lys2427Asn) c.7242A>T (p.Lys2414Asn) c.7167A>T (p.Lys2389Asn) n.9038A>T c.7356A>T (p.Lys2452Asn) c.7326A>T (p.Lys2442Asn) c.7278A>T (p.Lys2426Asn) c.7245A>T (p.Lys2415Asn) c.7215A>T (p.Lys2405Asn) c.7212A>T (p.Lys2404Asn) c.7164A>T (p.Lys2388Asn) c.7128A>T (p.Lys2376Asn) c.7125A>T (p.Lys2375Asn) c.7080A>T (p.Lys2360Asn) n.7745A>T | |
X | g.77508384T>C | CA517373983 | ATRX | c.7446A>G (p.Lys2482=) c.2544A>G (p.Lys848=) c.7332A>G (p.Lys2444=) c.*7074A>G (n.*7074A>G) n.5766A>G c.7443A>G (p.Lys2481=) c.7359A>G (p.Lys2453=) c.7329A>G (p.Lys2443=) c.7281A>G (p.Lys2427=) c.7242A>G (p.Lys2414=) c.7167A>G (p.Lys2389=) n.9038A>G c.7356A>G (p.Lys2452=) c.7326A>G (p.Lys2442=) c.7278A>G (p.Lys2426=) c.7245A>G (p.Lys2415=) c.7215A>G (p.Lys2405=) c.7212A>G (p.Lys2404=) c.7164A>G (p.Lys2388=) c.7128A>G (p.Lys2376=) c.7125A>G (p.Lys2375=) c.7080A>G (p.Lys2360=) n.7745A>G | |
X | g.77508384T>G | CA413703537 | ATRX | c.7446A>C (p.Lys2482Asn) c.2544A>C (p.Lys848Asn) c.7332A>C (p.Lys2444Asn) c.*7074A>C (n.*7074A>C) n.5766A>C c.7443A>C (p.Lys2481Asn) c.7359A>C (p.Lys2453Asn) c.7329A>C (p.Lys2443Asn) c.7281A>C (p.Lys2427Asn) c.7242A>C (p.Lys2414Asn) c.7167A>C (p.Lys2389Asn) n.9038A>C c.7356A>C (p.Lys2452Asn) c.7326A>C (p.Lys2442Asn) c.7278A>C (p.Lys2426Asn) c.7245A>C (p.Lys2415Asn) c.7215A>C (p.Lys2405Asn) c.7212A>C (p.Lys2404Asn) c.7164A>C (p.Lys2388Asn) c.7128A>C (p.Lys2376Asn) c.7125A>C (p.Lys2375Asn) c.7080A>C (p.Lys2360Asn) n.7745A>C | |
X | g.77508385T>A | CA413703545 | ATRX | c.7445A>T (p.Lys2482Ile) c.2543A>T (p.Lys848Ile) c.7331A>T (p.Lys2444Ile) c.*7073A>T (n.*7073A>T) n.5765A>T c.7442A>T (p.Lys2481Ile) c.7358A>T (p.Lys2453Ile) c.7328A>T (p.Lys2443Ile) c.7280A>T (p.Lys2427Ile) c.7241A>T (p.Lys2414Ile) c.7166A>T (p.Lys2389Ile) n.9037A>T c.7355A>T (p.Lys2452Ile) c.7325A>T (p.Lys2442Ile) c.7277A>T (p.Lys2426Ile) c.7244A>T (p.Lys2415Ile) c.7214A>T (p.Lys2405Ile) c.7211A>T (p.Lys2404Ile) c.7163A>T (p.Lys2388Ile) c.7127A>T (p.Lys2376Ile) c.7124A>T (p.Lys2375Ile) c.7079A>T (p.Lys2360Ile) n.7744A>T | |
X | g.77508385T>C | CA413703549 | ATRX | c.7445A>G (p.Lys2482Arg) c.2543A>G (p.Lys848Arg) c.7331A>G (p.Lys2444Arg) c.*7073A>G (n.*7073A>G) n.5765A>G c.7442A>G (p.Lys2481Arg) c.7358A>G (p.Lys2453Arg) c.7328A>G (p.Lys2443Arg) c.7280A>G (p.Lys2427Arg) c.7241A>G (p.Lys2414Arg) c.7166A>G (p.Lys2389Arg) n.9037A>G c.7355A>G (p.Lys2452Arg) c.7325A>G (p.Lys2442Arg) c.7277A>G (p.Lys2426Arg) c.7244A>G (p.Lys2415Arg) c.7214A>G (p.Lys2405Arg) c.7211A>G (p.Lys2404Arg) c.7163A>G (p.Lys2388Arg) c.7127A>G (p.Lys2376Arg) c.7124A>G (p.Lys2375Arg) c.7079A>G (p.Lys2360Arg) n.7744A>G | dbSNP |
X | g.77508385T>G | CA413703542 | ATRX | c.7445A>C (p.Lys2482Thr) c.2543A>C (p.Lys848Thr) c.7331A>C (p.Lys2444Thr) c.*7073A>C (n.*7073A>C) n.5765A>C c.7442A>C (p.Lys2481Thr) c.7358A>C (p.Lys2453Thr) c.7328A>C (p.Lys2443Thr) c.7280A>C (p.Lys2427Thr) c.7241A>C (p.Lys2414Thr) c.7166A>C (p.Lys2389Thr) n.9037A>C c.7355A>C (p.Lys2452Thr) c.7325A>C (p.Lys2442Thr) c.7277A>C (p.Lys2426Thr) c.7244A>C (p.Lys2415Thr) c.7214A>C (p.Lys2405Thr) c.7211A>C (p.Lys2404Thr) c.7163A>C (p.Lys2388Thr) c.7127A>C (p.Lys2376Thr) c.7124A>C (p.Lys2375Thr) c.7079A>C (p.Lys2360Thr) n.7744A>C | dbSNP |
X | g.77508385T= | CA2438929022 | ATRX | c.7445A= (p.Lys2482=) c.2543A= (p.Lys848=) c.7331A= (p.Lys2444=) c.*7073A= (n.*7073A=) n.5765A= c.7442A= (p.Lys2481=) c.7358A= (p.Lys2453=) c.7328A= (p.Lys2443=) c.7280A= (p.Lys2427=) c.7241A= (p.Lys2414=) c.7166A= (p.Lys2389=) n.9037A= c.7355A= (p.Lys2452=) c.7325A= (p.Lys2442=) c.7277A= (p.Lys2426=) c.7244A= (p.Lys2415=) c.7214A= (p.Lys2405=) c.7211A= (p.Lys2404=) c.7163A= (p.Lys2388=) c.7127A= (p.Lys2376=) c.7124A= (p.Lys2375=) c.7079A= (p.Lys2360=) n.7744A= | |
X | g.77508386T>A | CA413703553 | ATRX | c.7444A>T (p.Lys2482Ter) c.2542A>T (p.Lys848Ter) c.7330A>T (p.Lys2444Ter) c.*7072A>T (n.*7072A>T) n.5764A>T c.7441A>T (p.Lys2481Ter) c.7357A>T (p.Lys2453Ter) c.7327A>T (p.Lys2443Ter) c.7279A>T (p.Lys2427Ter) c.7240A>T (p.Lys2414Ter) c.7165A>T (p.Lys2389Ter) n.9036A>T c.7354A>T (p.Lys2452Ter) c.7324A>T (p.Lys2442Ter) c.7276A>T (p.Lys2426Ter) c.7243A>T (p.Lys2415Ter) c.7213A>T (p.Lys2405Ter) c.7210A>T (p.Lys2404Ter) c.7162A>T (p.Lys2388Ter) c.7126A>T (p.Lys2376Ter) c.7123A>T (p.Lys2375Ter) c.7078A>T (p.Lys2360Ter) n.7743A>T | |
X | g.77508386T>C | CA413703555 | ATRX | c.7444A>G (p.Lys2482Glu) c.2542A>G (p.Lys848Glu) c.7330A>G (p.Lys2444Glu) c.*7072A>G (n.*7072A>G) n.5764A>G c.7441A>G (p.Lys2481Glu) c.7357A>G (p.Lys2453Glu) c.7327A>G (p.Lys2443Glu) c.7279A>G (p.Lys2427Glu) c.7240A>G (p.Lys2414Glu) c.7165A>G (p.Lys2389Glu) n.9036A>G c.7354A>G (p.Lys2452Glu) c.7324A>G (p.Lys2442Glu) c.7276A>G (p.Lys2426Glu) c.7243A>G (p.Lys2415Glu) c.7213A>G (p.Lys2405Glu) c.7210A>G (p.Lys2404Glu) c.7162A>G (p.Lys2388Glu) c.7126A>G (p.Lys2376Glu) c.7123A>G (p.Lys2375Glu) c.7078A>G (p.Lys2360Glu) n.7743A>G | |
X | g.77508386T>G | CA413703557 | ATRX | c.7444A>C (p.Lys2482Gln) c.2542A>C (p.Lys848Gln) c.7330A>C (p.Lys2444Gln) c.*7072A>C (n.*7072A>C) n.5764A>C c.7441A>C (p.Lys2481Gln) c.7357A>C (p.Lys2453Gln) c.7327A>C (p.Lys2443Gln) c.7279A>C (p.Lys2427Gln) c.7240A>C (p.Lys2414Gln) c.7165A>C (p.Lys2389Gln) n.9036A>C c.7354A>C (p.Lys2452Gln) c.7324A>C (p.Lys2442Gln) c.7276A>C (p.Lys2426Gln) c.7243A>C (p.Lys2415Gln) c.7213A>C (p.Lys2405Gln) c.7210A>C (p.Lys2404Gln) c.7162A>C (p.Lys2388Gln) c.7126A>C (p.Lys2376Gln) c.7123A>C (p.Lys2375Gln) c.7078A>C (p.Lys2360Gln) n.7743A>C | |
X | g.77508387G>A | CA517373985 | ATRX | c.7443C>T (p.Ser2481=) c.2541C>T (p.Ser847=) c.7329C>T (p.Ser2443=) c.*7071C>T (n.*7071C>T) n.5763C>T c.7440C>T (p.Ser2480=) c.7356C>T (p.Ser2452=) c.7326C>T (p.Ser2442=) c.7278C>T (p.Ser2426=) c.7239C>T (p.Ser2413=) c.7164C>T (p.Ser2388=) n.9035C>T c.7353C>T (p.Ser2451=) c.7323C>T (p.Ser2441=) c.7275C>T (p.Ser2425=) c.7242C>T (p.Ser2414=) c.7212C>T (p.Ser2404=) c.7209C>T (p.Ser2403=) c.7161C>T (p.Ser2387=) c.7125C>T (p.Ser2375=) c.7122C>T (p.Ser2374=) c.7077C>T (p.Ser2359=) n.7742C>T | |
X | g.77508387G>C | CA413703560 | ATRX | c.7443C>G (p.Ser2481Arg) c.2541C>G (p.Ser847Arg) c.7329C>G (p.Ser2443Arg) c.*7071C>G (n.*7071C>G) n.5763C>G c.7440C>G (p.Ser2480Arg) c.7356C>G (p.Ser2452Arg) c.7326C>G (p.Ser2442Arg) c.7278C>G (p.Ser2426Arg) c.7239C>G (p.Ser2413Arg) c.7164C>G (p.Ser2388Arg) n.9035C>G c.7353C>G (p.Ser2451Arg) c.7323C>G (p.Ser2441Arg) c.7275C>G (p.Ser2425Arg) c.7242C>G (p.Ser2414Arg) c.7212C>G (p.Ser2404Arg) c.7209C>G (p.Ser2403Arg) c.7161C>G (p.Ser2387Arg) c.7125C>G (p.Ser2375Arg) c.7122C>G (p.Ser2374Arg) c.7077C>G (p.Ser2359Arg) n.7742C>G | |
X | g.77508387G>T | CA413703565 | ATRX | c.7443C>A (p.Ser2481Arg) c.2541C>A (p.Ser847Arg) c.7329C>A (p.Ser2443Arg) c.*7071C>A (n.*7071C>A) n.5763C>A c.7440C>A (p.Ser2480Arg) c.7356C>A (p.Ser2452Arg) c.7326C>A (p.Ser2442Arg) c.7278C>A (p.Ser2426Arg) c.7239C>A (p.Ser2413Arg) c.7164C>A (p.Ser2388Arg) n.9035C>A c.7353C>A (p.Ser2451Arg) c.7323C>A (p.Ser2441Arg) c.7275C>A (p.Ser2425Arg) c.7242C>A (p.Ser2414Arg) c.7212C>A (p.Ser2404Arg) c.7209C>A (p.Ser2403Arg) c.7161C>A (p.Ser2387Arg) c.7125C>A (p.Ser2375Arg) c.7122C>A (p.Ser2374Arg) c.7077C>A (p.Ser2359Arg) n.7742C>A | |
X | g.77508388C>A | CA413703567 | ATRX | c.7442G>T (p.Ser2481Ile) c.2540G>T (p.Ser847Ile) c.7328G>T (p.Ser2443Ile) c.*7070G>T (n.*7070G>T) n.5762G>T c.7439G>T (p.Ser2480Ile) c.7355G>T (p.Ser2452Ile) c.7325G>T (p.Ser2442Ile) c.7277G>T (p.Ser2426Ile) c.7238G>T (p.Ser2413Ile) c.7163G>T (p.Ser2388Ile) n.9034G>T c.7352G>T (p.Ser2451Ile) c.7322G>T (p.Ser2441Ile) c.7274G>T (p.Ser2425Ile) c.7241G>T (p.Ser2414Ile) c.7211G>T (p.Ser2404Ile) c.7208G>T (p.Ser2403Ile) c.7160G>T (p.Ser2387Ile) c.7124G>T (p.Ser2375Ile) c.7121G>T (p.Ser2374Ile) c.7076G>T (p.Ser2359Ile) n.7741G>T | |
X | g.77508388C>G | CA413703568 | ATRX | c.7442G>C (p.Ser2481Thr) c.2540G>C (p.Ser847Thr) c.7328G>C (p.Ser2443Thr) c.*7070G>C (n.*7070G>C) n.5762G>C c.7439G>C (p.Ser2480Thr) c.7355G>C (p.Ser2452Thr) c.7325G>C (p.Ser2442Thr) c.7277G>C (p.Ser2426Thr) c.7238G>C (p.Ser2413Thr) c.7163G>C (p.Ser2388Thr) n.9034G>C c.7352G>C (p.Ser2451Thr) c.7322G>C (p.Ser2441Thr) c.7274G>C (p.Ser2425Thr) c.7241G>C (p.Ser2414Thr) c.7211G>C (p.Ser2404Thr) c.7208G>C (p.Ser2403Thr) c.7160G>C (p.Ser2387Thr) c.7124G>C (p.Ser2375Thr) c.7121G>C (p.Ser2374Thr) c.7076G>C (p.Ser2359Thr) n.7741G>C | |
X | g.77508388C>T | CA413703569 | ATRX | c.7442G>A (p.Ser2481Asn) c.2540G>A (p.Ser847Asn) c.7328G>A (p.Ser2443Asn) c.*7070G>A (n.*7070G>A) n.5762G>A c.7439G>A (p.Ser2480Asn) c.7355G>A (p.Ser2452Asn) c.7325G>A (p.Ser2442Asn) c.7277G>A (p.Ser2426Asn) c.7238G>A (p.Ser2413Asn) c.7163G>A (p.Ser2388Asn) n.9034G>A c.7352G>A (p.Ser2451Asn) c.7322G>A (p.Ser2441Asn) c.7274G>A (p.Ser2425Asn) c.7241G>A (p.Ser2414Asn) c.7211G>A (p.Ser2404Asn) c.7208G>A (p.Ser2403Asn) c.7160G>A (p.Ser2387Asn) c.7124G>A (p.Ser2375Asn) c.7121G>A (p.Ser2374Asn) c.7076G>A (p.Ser2359Asn) n.7741G>A | |
X | g.77508389T>A | CA413703572 | ATRX | c.7441A>T (p.Ser2481Cys) c.2539A>T (p.Ser847Cys) c.7327A>T (p.Ser2443Cys) c.*7069A>T (n.*7069A>T) n.5761A>T c.7438A>T (p.Ser2480Cys) c.7354A>T (p.Ser2452Cys) c.7324A>T (p.Ser2442Cys) c.7276A>T (p.Ser2426Cys) c.7237A>T (p.Ser2413Cys) c.7162A>T (p.Ser2388Cys) n.9033A>T c.7351A>T (p.Ser2451Cys) c.7321A>T (p.Ser2441Cys) c.7273A>T (p.Ser2425Cys) c.7240A>T (p.Ser2414Cys) c.7210A>T (p.Ser2404Cys) c.7207A>T (p.Ser2403Cys) c.7159A>T (p.Ser2387Cys) c.7123A>T (p.Ser2375Cys) c.7120A>T (p.Ser2374Cys) c.7075A>T (p.Ser2359Cys) n.7740A>T | |
X | g.77508389T>C | CA413703578 | ATRX | c.7441A>G (p.Ser2481Gly) c.2539A>G (p.Ser847Gly) c.7327A>G (p.Ser2443Gly) c.*7069A>G (n.*7069A>G) n.5761A>G c.7438A>G (p.Ser2480Gly) c.7354A>G (p.Ser2452Gly) c.7324A>G (p.Ser2442Gly) c.7276A>G (p.Ser2426Gly) c.7237A>G (p.Ser2413Gly) c.7162A>G (p.Ser2388Gly) n.9033A>G c.7351A>G (p.Ser2451Gly) c.7321A>G (p.Ser2441Gly) c.7273A>G (p.Ser2425Gly) c.7240A>G (p.Ser2414Gly) c.7210A>G (p.Ser2404Gly) c.7207A>G (p.Ser2403Gly) c.7159A>G (p.Ser2387Gly) c.7123A>G (p.Ser2375Gly) c.7120A>G (p.Ser2374Gly) c.7075A>G (p.Ser2359Gly) n.7740A>G | |
X | g.77508389T>G | CA413703580 | ATRX | c.7441A>C (p.Ser2481Arg) c.2539A>C (p.Ser847Arg) c.7327A>C (p.Ser2443Arg) c.*7069A>C (n.*7069A>C) n.5761A>C c.7438A>C (p.Ser2480Arg) c.7354A>C (p.Ser2452Arg) c.7324A>C (p.Ser2442Arg) c.7276A>C (p.Ser2426Arg) c.7237A>C (p.Ser2413Arg) c.7162A>C (p.Ser2388Arg) n.9033A>C c.7351A>C (p.Ser2451Arg) c.7321A>C (p.Ser2441Arg) c.7273A>C (p.Ser2425Arg) c.7240A>C (p.Ser2414Arg) c.7210A>C (p.Ser2404Arg) c.7207A>C (p.Ser2403Arg) c.7159A>C (p.Ser2387Arg) c.7123A>C (p.Ser2375Arg) c.7120A>C (p.Ser2374Arg) c.7075A>C (p.Ser2359Arg) n.7740A>C | |
X | g.77508390T>A | CA413703584 | ATRX | c.7440A>T (p.Arg2480Ser) c.2538A>T (p.Arg846Ser) c.7326A>T (p.Arg2442Ser) c.*7068A>T (n.*7068A>T) n.5760A>T c.7437A>T (p.Arg2479Ser) c.7353A>T (p.Arg2451Ser) c.7323A>T (p.Arg2441Ser) c.7275A>T (p.Arg2425Ser) c.7236A>T (p.Arg2412Ser) c.7161A>T (p.Arg2387Ser) n.9032A>T c.7350A>T (p.Arg2450Ser) c.7320A>T (p.Arg2440Ser) c.7272A>T (p.Arg2424Ser) c.7239A>T (p.Arg2413Ser) c.7209A>T (p.Arg2403Ser) c.7206A>T (p.Arg2402Ser) c.7158A>T (p.Arg2386Ser) c.7122A>T (p.Arg2374Ser) c.7119A>T (p.Arg2373Ser) c.7074A>T (p.Arg2358Ser) n.7739A>T | |
X | g.77508390T>C | CA517373989 | ATRX | c.7440A>G (p.Arg2480=) c.2538A>G (p.Arg846=) c.7326A>G (p.Arg2442=) c.*7068A>G (n.*7068A>G) n.5760A>G c.7437A>G (p.Arg2479=) c.7353A>G (p.Arg2451=) c.7323A>G (p.Arg2441=) c.7275A>G (p.Arg2425=) c.7236A>G (p.Arg2412=) c.7161A>G (p.Arg2387=) n.9032A>G c.7350A>G (p.Arg2450=) c.7320A>G (p.Arg2440=) c.7272A>G (p.Arg2424=) c.7239A>G (p.Arg2413=) c.7209A>G (p.Arg2403=) c.7206A>G (p.Arg2402=) c.7158A>G (p.Arg2386=) c.7122A>G (p.Arg2374=) c.7119A>G (p.Arg2373=) c.7074A>G (p.Arg2358=) n.7739A>G | |
X | g.77508390T>G | CA413703586 | ATRX | c.7440A>C (p.Arg2480Ser) c.2538A>C (p.Arg846Ser) c.7326A>C (p.Arg2442Ser) c.*7068A>C (n.*7068A>C) n.5760A>C c.7437A>C (p.Arg2479Ser) c.7353A>C (p.Arg2451Ser) c.7323A>C (p.Arg2441Ser) c.7275A>C (p.Arg2425Ser) c.7236A>C (p.Arg2412Ser) c.7161A>C (p.Arg2387Ser) n.9032A>C c.7350A>C (p.Arg2450Ser) c.7320A>C (p.Arg2440Ser) c.7272A>C (p.Arg2424Ser) c.7239A>C (p.Arg2413Ser) c.7209A>C (p.Arg2403Ser) c.7206A>C (p.Arg2402Ser) c.7158A>C (p.Arg2386Ser) c.7122A>C (p.Arg2374Ser) c.7119A>C (p.Arg2373Ser) c.7074A>C (p.Arg2358Ser) n.7739A>C | |
X | g.77508391C>A | CA413703599 | ATRX | c.7439G>T (p.Arg2480Ile) c.2537G>T (p.Arg846Ile) c.7325G>T (p.Arg2442Ile) c.*7067G>T (n.*7067G>T) n.5759G>T c.7436G>T (p.Arg2479Ile) c.7352G>T (p.Arg2451Ile) c.7322G>T (p.Arg2441Ile) c.7274G>T (p.Arg2425Ile) c.7235G>T (p.Arg2412Ile) c.7160G>T (p.Arg2387Ile) n.9031G>T c.7349G>T (p.Arg2450Ile) c.7319G>T (p.Arg2440Ile) c.7271G>T (p.Arg2424Ile) c.7238G>T (p.Arg2413Ile) c.7208G>T (p.Arg2403Ile) c.7205G>T (p.Arg2402Ile) c.7157G>T (p.Arg2386Ile) c.7121G>T (p.Arg2374Ile) c.7118G>T (p.Arg2373Ile) c.7073G>T (p.Arg2358Ile) n.7738G>T | |
X | g.77508391C= | CA2438929023 | ATRX | c.7439G= (p.Arg2480=) c.2537G= (p.Arg846=) c.7325G= (p.Arg2442=) c.*7067G= (n.*7067G=) n.5759G= c.7436G= (p.Arg2479=) c.7352G= (p.Arg2451=) c.7322G= (p.Arg2441=) c.7274G= (p.Arg2425=) c.7235G= (p.Arg2412=) c.7160G= (p.Arg2387=) n.9031G= c.7349G= (p.Arg2450=) c.7319G= (p.Arg2440=) c.7271G= (p.Arg2424=) c.7238G= (p.Arg2413=) c.7208G= (p.Arg2403=) c.7205G= (p.Arg2402=) c.7157G= (p.Arg2386=) c.7121G= (p.Arg2374=) c.7118G= (p.Arg2373=) c.7073G= (p.Arg2358=) n.7738G= | |
X | g.77508391C>G | CA413703596 | ATRX | c.7439G>C (p.Arg2480Thr) c.2537G>C (p.Arg846Thr) c.7325G>C (p.Arg2442Thr) c.*7067G>C (n.*7067G>C) n.5759G>C c.7436G>C (p.Arg2479Thr) c.7352G>C (p.Arg2451Thr) c.7322G>C (p.Arg2441Thr) c.7274G>C (p.Arg2425Thr) c.7235G>C (p.Arg2412Thr) c.7160G>C (p.Arg2387Thr) n.9031G>C c.7349G>C (p.Arg2450Thr) c.7319G>C (p.Arg2440Thr) c.7271G>C (p.Arg2424Thr) c.7238G>C (p.Arg2413Thr) c.7208G>C (p.Arg2403Thr) c.7205G>C (p.Arg2402Thr) c.7157G>C (p.Arg2386Thr) c.7121G>C (p.Arg2374Thr) c.7118G>C (p.Arg2373Thr) c.7073G>C (p.Arg2358Thr) n.7738G>C | |
X | g.77508391C>T | CA10457375 | ATRX | c.7439G>A (p.Arg2480Lys) c.2537G>A (p.Arg846Lys) c.7325G>A (p.Arg2442Lys) c.*7067G>A (n.*7067G>A) n.5759G>A c.7436G>A (p.Arg2479Lys) c.7352G>A (p.Arg2451Lys) c.7322G>A (p.Arg2441Lys) c.7274G>A (p.Arg2425Lys) c.7235G>A (p.Arg2412Lys) c.7160G>A (p.Arg2387Lys) n.9031G>A c.7349G>A (p.Arg2450Lys) c.7319G>A (p.Arg2440Lys) c.7271G>A (p.Arg2424Lys) c.7238G>A (p.Arg2413Lys) c.7208G>A (p.Arg2403Lys) c.7205G>A (p.Arg2402Lys) c.7157G>A (p.Arg2386Lys) c.7121G>A (p.Arg2374Lys) c.7118G>A (p.Arg2373Lys) c.7073G>A (p.Arg2358Lys) n.7738G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.77508392T>A | CA413703602 | ATRX | c.7438A>T (p.Arg2480Ter) c.2536A>T (p.Arg846Ter) c.7324A>T (p.Arg2442Ter) c.*7066A>T (n.*7066A>T) n.5758A>T c.7435A>T (p.Arg2479Ter) c.7351A>T (p.Arg2451Ter) c.7321A>T (p.Arg2441Ter) c.7273A>T (p.Arg2425Ter) c.7234A>T (p.Arg2412Ter) c.7159A>T (p.Arg2387Ter) n.9030A>T c.7348A>T (p.Arg2450Ter) c.7318A>T (p.Arg2440Ter) c.7270A>T (p.Arg2424Ter) c.7237A>T (p.Arg2413Ter) c.7207A>T (p.Arg2403Ter) c.7204A>T (p.Arg2402Ter) c.7156A>T (p.Arg2386Ter) c.7120A>T (p.Arg2374Ter) c.7117A>T (p.Arg2373Ter) c.7072A>T (p.Arg2358Ter) n.7737A>T | |
X | g.77508392T>C | CA413703604 | ATRX | c.7438A>G (p.Arg2480Gly) c.2536A>G (p.Arg846Gly) c.7324A>G (p.Arg2442Gly) c.*7066A>G (n.*7066A>G) n.5758A>G c.7435A>G (p.Arg2479Gly) c.7351A>G (p.Arg2451Gly) c.7321A>G (p.Arg2441Gly) c.7273A>G (p.Arg2425Gly) c.7234A>G (p.Arg2412Gly) c.7159A>G (p.Arg2387Gly) n.9030A>G c.7348A>G (p.Arg2450Gly) c.7318A>G (p.Arg2440Gly) c.7270A>G (p.Arg2424Gly) c.7237A>G (p.Arg2413Gly) c.7207A>G (p.Arg2403Gly) c.7204A>G (p.Arg2402Gly) c.7156A>G (p.Arg2386Gly) c.7120A>G (p.Arg2374Gly) c.7117A>G (p.Arg2373Gly) c.7072A>G (p.Arg2358Gly) n.7737A>G | |
X | g.77508392T>G | CA517373991 | ATRX | c.7438A>C (p.Arg2480=) c.2536A>C (p.Arg846=) c.7324A>C (p.Arg2442=) c.*7066A>C (n.*7066A>C) n.5758A>C c.7435A>C (p.Arg2479=) c.7351A>C (p.Arg2451=) c.7321A>C (p.Arg2441=) c.7273A>C (p.Arg2425=) c.7234A>C (p.Arg2412=) c.7159A>C (p.Arg2387=) n.9030A>C c.7348A>C (p.Arg2450=) c.7318A>C (p.Arg2440=) c.7270A>C (p.Arg2424=) c.7237A>C (p.Arg2413=) c.7207A>C (p.Arg2403=) c.7204A>C (p.Arg2402=) c.7156A>C (p.Arg2386=) c.7120A>C (p.Arg2374=) c.7117A>C (p.Arg2373=) c.7072A>C (p.Arg2358=) n.7737A>C | |
X | g.77508393C>A | CA413703607 | ATRX | c.7437G>T (p.Met2479Ile) c.2535G>T (p.Met845Ile) c.7323G>T (p.Met2441Ile) c.*7065G>T (n.*7065G>T) n.5757G>T c.7434G>T (p.Met2478Ile) c.7350G>T (p.Met2450Ile) c.7320G>T (p.Met2440Ile) c.7272G>T (p.Met2424Ile) c.7233G>T (p.Met2411Ile) c.7158G>T (p.Met2386Ile) n.9029G>T c.7347G>T (p.Met2449Ile) c.7317G>T (p.Met2439Ile) c.7269G>T (p.Met2423Ile) c.7236G>T (p.Met2412Ile) c.7206G>T (p.Met2402Ile) c.7203G>T (p.Met2401Ile) c.7155G>T (p.Met2385Ile) c.7119G>T (p.Met2373Ile) c.7116G>T (p.Met2372Ile) c.7071G>T (p.Met2357Ile) n.7736G>T | dbSNP |
X | g.77508393C>G | CA413703614 | ATRX | c.7437G>C (p.Met2479Ile) c.2535G>C (p.Met845Ile) c.7323G>C (p.Met2441Ile) c.*7065G>C (n.*7065G>C) n.5757G>C c.7434G>C (p.Met2478Ile) c.7350G>C (p.Met2450Ile) c.7320G>C (p.Met2440Ile) c.7272G>C (p.Met2424Ile) c.7233G>C (p.Met2411Ile) c.7158G>C (p.Met2386Ile) n.9029G>C c.7347G>C (p.Met2449Ile) c.7317G>C (p.Met2439Ile) c.7269G>C (p.Met2423Ile) c.7236G>C (p.Met2412Ile) c.7206G>C (p.Met2402Ile) c.7203G>C (p.Met2401Ile) c.7155G>C (p.Met2385Ile) c.7119G>C (p.Met2373Ile) c.7116G>C (p.Met2372Ile) c.7071G>C (p.Met2357Ile) n.7736G>C | |
X | g.77508393C>T | CA413703616 | ATRX | c.7437G>A (p.Met2479Ile) c.2535G>A (p.Met845Ile) c.7323G>A (p.Met2441Ile) c.*7065G>A (n.*7065G>A) n.5757G>A c.7434G>A (p.Met2478Ile) c.7350G>A (p.Met2450Ile) c.7320G>A (p.Met2440Ile) c.7272G>A (p.Met2424Ile) c.7233G>A (p.Met2411Ile) c.7158G>A (p.Met2386Ile) n.9029G>A c.7347G>A (p.Met2449Ile) c.7317G>A (p.Met2439Ile) c.7269G>A (p.Met2423Ile) c.7236G>A (p.Met2412Ile) c.7206G>A (p.Met2402Ile) c.7203G>A (p.Met2401Ile) c.7155G>A (p.Met2385Ile) c.7119G>A (p.Met2373Ile) c.7116G>A (p.Met2372Ile) c.7071G>A (p.Met2357Ile) n.7736G>A | |
X | g.77508394A>C | CA413703622 | ATRX | c.7436T>G (p.Met2479Arg) c.2534T>G (p.Met845Arg) c.7322T>G (p.Met2441Arg) c.*7064T>G (n.*7064T>G) n.5756T>G c.7433T>G (p.Met2478Arg) c.7349T>G (p.Met2450Arg) c.7319T>G (p.Met2440Arg) c.7271T>G (p.Met2424Arg) c.7232T>G (p.Met2411Arg) c.7157T>G (p.Met2386Arg) n.9028T>G c.7346T>G (p.Met2449Arg) c.7316T>G (p.Met2439Arg) c.7268T>G (p.Met2423Arg) c.7235T>G (p.Met2412Arg) c.7205T>G (p.Met2402Arg) c.7202T>G (p.Met2401Arg) c.7154T>G (p.Met2385Arg) c.7118T>G (p.Met2373Arg) c.7115T>G (p.Met2372Arg) c.7070T>G (p.Met2357Arg) n.7735T>G | |
X | g.77508394A>G | CA413703629 | ATRX | c.7436T>C (p.Met2479Thr) c.2534T>C (p.Met845Thr) c.7322T>C (p.Met2441Thr) c.*7064T>C (n.*7064T>C) n.5756T>C c.7433T>C (p.Met2478Thr) c.7349T>C (p.Met2450Thr) c.7319T>C (p.Met2440Thr) c.7271T>C (p.Met2424Thr) c.7232T>C (p.Met2411Thr) c.7157T>C (p.Met2386Thr) n.9028T>C c.7346T>C (p.Met2449Thr) c.7316T>C (p.Met2439Thr) c.7268T>C (p.Met2423Thr) c.7235T>C (p.Met2412Thr) c.7205T>C (p.Met2402Thr) c.7202T>C (p.Met2401Thr) c.7154T>C (p.Met2385Thr) c.7118T>C (p.Met2373Thr) c.7115T>C (p.Met2372Thr) c.7070T>C (p.Met2357Thr) n.7735T>C | ClinVar |
X | g.77508394A>T | CA413703632 | ATRX | c.7436T>A (p.Met2479Lys) c.2534T>A (p.Met845Lys) c.7322T>A (p.Met2441Lys) c.*7064T>A (n.*7064T>A) n.5756T>A c.7433T>A (p.Met2478Lys) c.7349T>A (p.Met2450Lys) c.7319T>A (p.Met2440Lys) c.7271T>A (p.Met2424Lys) c.7232T>A (p.Met2411Lys) c.7157T>A (p.Met2386Lys) n.9028T>A c.7346T>A (p.Met2449Lys) c.7316T>A (p.Met2439Lys) c.7268T>A (p.Met2423Lys) c.7235T>A (p.Met2412Lys) c.7205T>A (p.Met2402Lys) c.7202T>A (p.Met2401Lys) c.7154T>A (p.Met2385Lys) c.7118T>A (p.Met2373Lys) c.7115T>A (p.Met2372Lys) c.7070T>A (p.Met2357Lys) n.7735T>A | |
X | g.77508395T>A | CA413703638 | ATRX | c.7435A>T (p.Met2479Leu) c.2533A>T (p.Met845Leu) c.7321A>T (p.Met2441Leu) c.*7063A>T (n.*7063A>T) n.5755A>T c.7432A>T (p.Met2478Leu) c.7348A>T (p.Met2450Leu) c.7318A>T (p.Met2440Leu) c.7270A>T (p.Met2424Leu) c.7231A>T (p.Met2411Leu) c.7156A>T (p.Met2386Leu) n.9027A>T c.7345A>T (p.Met2449Leu) c.7315A>T (p.Met2439Leu) c.7267A>T (p.Met2423Leu) c.7234A>T (p.Met2412Leu) c.7204A>T (p.Met2402Leu) c.7201A>T (p.Met2401Leu) c.7153A>T (p.Met2385Leu) c.7117A>T (p.Met2373Leu) c.7114A>T (p.Met2372Leu) c.7069A>T (p.Met2357Leu) n.7734A>T | |
X | g.77508395T>C | CA10457376 | ATRX | c.7435A>G (p.Met2479Val) c.2533A>G (p.Met845Val) c.7321A>G (p.Met2441Val) c.*7063A>G (n.*7063A>G) n.5755A>G c.7432A>G (p.Met2478Val) c.7348A>G (p.Met2450Val) c.7318A>G (p.Met2440Val) c.7270A>G (p.Met2424Val) c.7231A>G (p.Met2411Val) c.7156A>G (p.Met2386Val) n.9027A>G c.7345A>G (p.Met2449Val) c.7315A>G (p.Met2439Val) c.7267A>G (p.Met2423Val) c.7234A>G (p.Met2412Val) c.7204A>G (p.Met2402Val) c.7201A>G (p.Met2401Val) c.7153A>G (p.Met2385Val) c.7117A>G (p.Met2373Val) c.7114A>G (p.Met2372Val) c.7069A>G (p.Met2357Val) n.7734A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.77508395T>G | CA413703644 | ATRX | c.7435A>C (p.Met2479Leu) c.2533A>C (p.Met845Leu) c.7321A>C (p.Met2441Leu) c.*7063A>C (n.*7063A>C) n.5755A>C c.7432A>C (p.Met2478Leu) c.7348A>C (p.Met2450Leu) c.7318A>C (p.Met2440Leu) c.7270A>C (p.Met2424Leu) c.7231A>C (p.Met2411Leu) c.7156A>C (p.Met2386Leu) n.9027A>C c.7345A>C (p.Met2449Leu) c.7315A>C (p.Met2439Leu) c.7267A>C (p.Met2423Leu) c.7234A>C (p.Met2412Leu) c.7204A>C (p.Met2402Leu) c.7201A>C (p.Met2401Leu) c.7153A>C (p.Met2385Leu) c.7117A>C (p.Met2373Leu) c.7114A>C (p.Met2372Leu) c.7069A>C (p.Met2357Leu) n.7734A>C | |
X | g.77508395T= | CA2438929024 | ATRX | c.7435A= (p.Met2479=) c.2533A= (p.Met845=) c.7321A= (p.Met2441=) c.*7063A= (n.*7063A=) n.5755A= c.7432A= (p.Met2478=) c.7348A= (p.Met2450=) c.7318A= (p.Met2440=) c.7270A= (p.Met2424=) c.7231A= (p.Met2411=) c.7156A= (p.Met2386=) n.9027A= c.7345A= (p.Met2449=) c.7315A= (p.Met2439=) c.7267A= (p.Met2423=) c.7234A= (p.Met2412=) c.7204A= (p.Met2402=) c.7201A= (p.Met2401=) c.7153A= (p.Met2385=) c.7117A= (p.Met2373=) c.7114A= (p.Met2372=) c.7069A= (p.Met2357=) n.7734A= | |
X | g.77508396T>A | CA517373995 | ATRX | c.7434A>T (p.Pro2478=) c.2532A>T (p.Pro844=) c.7320A>T (p.Pro2440=) c.*7062A>T (n.*7062A>T) n.5754A>T c.7431A>T (p.Pro2477=) c.7347A>T (p.Pro2449=) c.7317A>T (p.Pro2439=) c.7269A>T (p.Pro2423=) c.7230A>T (p.Pro2410=) c.7155A>T (p.Pro2385=) n.9026A>T c.7344A>T (p.Pro2448=) c.7314A>T (p.Pro2438=) c.7266A>T (p.Pro2422=) c.7233A>T (p.Pro2411=) c.7203A>T (p.Pro2401=) c.7200A>T (p.Pro2400=) c.7152A>T (p.Pro2384=) c.7116A>T (p.Pro2372=) c.7113A>T (p.Pro2371=) c.7068A>T (p.Pro2356=) n.7733A>T | |
X | g.77508396T>C | CA517373996 | ATRX | c.7434A>G (p.Pro2478=) c.2532A>G (p.Pro844=) c.7320A>G (p.Pro2440=) c.*7062A>G (n.*7062A>G) n.5754A>G c.7431A>G (p.Pro2477=) c.7347A>G (p.Pro2449=) c.7317A>G (p.Pro2439=) c.7269A>G (p.Pro2423=) c.7230A>G (p.Pro2410=) c.7155A>G (p.Pro2385=) n.9026A>G c.7344A>G (p.Pro2448=) c.7314A>G (p.Pro2438=) c.7266A>G (p.Pro2422=) c.7233A>G (p.Pro2411=) c.7203A>G (p.Pro2401=) c.7200A>G (p.Pro2400=) c.7152A>G (p.Pro2384=) c.7116A>G (p.Pro2372=) c.7113A>G (p.Pro2371=) c.7068A>G (p.Pro2356=) n.7733A>G | |
X | g.77508396T>G | CA517373997 | ATRX | c.7434A>C (p.Pro2478=) c.2532A>C (p.Pro844=) c.7320A>C (p.Pro2440=) c.*7062A>C (n.*7062A>C) n.5754A>C c.7431A>C (p.Pro2477=) c.7347A>C (p.Pro2449=) c.7317A>C (p.Pro2439=) c.7269A>C (p.Pro2423=) c.7230A>C (p.Pro2410=) c.7155A>C (p.Pro2385=) n.9026A>C c.7344A>C (p.Pro2448=) c.7314A>C (p.Pro2438=) c.7266A>C (p.Pro2422=) c.7233A>C (p.Pro2411=) c.7203A>C (p.Pro2401=) c.7200A>C (p.Pro2400=) c.7152A>C (p.Pro2384=) c.7116A>C (p.Pro2372=) c.7113A>C (p.Pro2371=) c.7068A>C (p.Pro2356=) n.7733A>C | dbSNP gnomAD v2 |
X | g.77508396T= | CA2438929025 | ATRX | c.7434A= (p.Pro2478=) c.2532A= (p.Pro844=) c.7320A= (p.Pro2440=) c.*7062A= (n.*7062A=) n.5754A= c.7431A= (p.Pro2477=) c.7347A= (p.Pro2449=) c.7317A= (p.Pro2439=) c.7269A= (p.Pro2423=) c.7230A= (p.Pro2410=) c.7155A= (p.Pro2385=) n.9026A= c.7344A= (p.Pro2448=) c.7314A= (p.Pro2438=) c.7266A= (p.Pro2422=) c.7233A= (p.Pro2411=) c.7203A= (p.Pro2401=) c.7200A= (p.Pro2400=) c.7152A= (p.Pro2384=) c.7116A= (p.Pro2372=) c.7113A= (p.Pro2371=) c.7068A= (p.Pro2356=) n.7733A= | |
X | g.77508397G>A | CA413703647 | ATRX | c.7433C>T (p.Pro2478Leu) c.2531C>T (p.Pro844Leu) c.7319C>T (p.Pro2440Leu) c.*7061C>T (n.*7061C>T) n.5753C>T c.7430C>T (p.Pro2477Leu) c.7346C>T (p.Pro2449Leu) c.7316C>T (p.Pro2439Leu) c.7268C>T (p.Pro2423Leu) c.7229C>T (p.Pro2410Leu) c.7154C>T (p.Pro2385Leu) n.9025C>T c.7343C>T (p.Pro2448Leu) c.7313C>T (p.Pro2438Leu) c.7265C>T (p.Pro2422Leu) c.7232C>T (p.Pro2411Leu) c.7202C>T (p.Pro2401Leu) c.7199C>T (p.Pro2400Leu) c.7151C>T (p.Pro2384Leu) c.7115C>T (p.Pro2372Leu) c.7112C>T (p.Pro2371Leu) c.7067C>T (p.Pro2356Leu) n.7732C>T | dbSNP gnomAD v3 gnomAD v4 |
X | g.77508397G>C | CA413703653 | ATRX | c.7433C>G (p.Pro2478Arg) c.2531C>G (p.Pro844Arg) c.7319C>G (p.Pro2440Arg) c.*7061C>G (n.*7061C>G) n.5753C>G c.7430C>G (p.Pro2477Arg) c.7346C>G (p.Pro2449Arg) c.7316C>G (p.Pro2439Arg) c.7268C>G (p.Pro2423Arg) c.7229C>G (p.Pro2410Arg) c.7154C>G (p.Pro2385Arg) n.9025C>G c.7343C>G (p.Pro2448Arg) c.7313C>G (p.Pro2438Arg) c.7265C>G (p.Pro2422Arg) c.7232C>G (p.Pro2411Arg) c.7202C>G (p.Pro2401Arg) c.7199C>G (p.Pro2400Arg) c.7151C>G (p.Pro2384Arg) c.7115C>G (p.Pro2372Arg) c.7112C>G (p.Pro2371Arg) c.7067C>G (p.Pro2356Arg) n.7732C>G | |
X | g.77508397G= | CA2438929026 | ATRX | c.7433C= (p.Pro2478=) c.2531C= (p.Pro844=) c.7319C= (p.Pro2440=) c.*7061C= (n.*7061C=) n.5753C= c.7430C= (p.Pro2477=) c.7346C= (p.Pro2449=) c.7316C= (p.Pro2439=) c.7268C= (p.Pro2423=) c.7229C= (p.Pro2410=) c.7154C= (p.Pro2385=) n.9025C= c.7343C= (p.Pro2448=) c.7313C= (p.Pro2438=) c.7265C= (p.Pro2422=) c.7232C= (p.Pro2411=) c.7202C= (p.Pro2401=) c.7199C= (p.Pro2400=) c.7151C= (p.Pro2384=) c.7115C= (p.Pro2372=) c.7112C= (p.Pro2371=) c.7067C= (p.Pro2356=) n.7732C= | |
X | g.77508397G>T | CA413703656 | ATRX | c.7433C>A (p.Pro2478Gln) c.2531C>A (p.Pro844Gln) c.7319C>A (p.Pro2440Gln) c.*7061C>A (n.*7061C>A) n.5753C>A c.7430C>A (p.Pro2477Gln) c.7346C>A (p.Pro2449Gln) c.7316C>A (p.Pro2439Gln) c.7268C>A (p.Pro2423Gln) c.7229C>A (p.Pro2410Gln) c.7154C>A (p.Pro2385Gln) n.9025C>A c.7343C>A (p.Pro2448Gln) c.7313C>A (p.Pro2438Gln) c.7265C>A (p.Pro2422Gln) c.7232C>A (p.Pro2411Gln) c.7202C>A (p.Pro2401Gln) c.7199C>A (p.Pro2400Gln) c.7151C>A (p.Pro2384Gln) c.7115C>A (p.Pro2372Gln) c.7112C>A (p.Pro2371Gln) c.7067C>A (p.Pro2356Gln) n.7732C>A | |
X | g.77508401dup | CA2555169002 | ATRX | c.7433dup (p.Met2479AsnfsTer19) c.2531dup (p.Met845AsnfsTer19) c.7319dup (p.Met2441AsnfsTer19) c.*7061dup (n.*7061dup) n.5753dup c.7430dup (p.Met2478AsnfsTer19) c.7346dup (p.Met2450AsnfsTer19) c.7316dup (p.Met2440AsnfsTer19) c.7268dup (p.Met2424AsnfsTer19) c.7229dup (p.Met2411AsnfsTer19) c.7154dup (p.Met2386AsnfsTer19) n.9025dup c.7343dup (p.Met2449AsnfsTer19) c.7313dup (p.Met2439AsnfsTer19) c.7265dup (p.Met2423AsnfsTer19) c.7232dup (p.Met2412AsnfsTer19) c.7202dup (p.Met2402AsnfsTer19) c.7199dup (p.Met2401AsnfsTer19) c.7151dup (p.Met2385AsnfsTer19) c.7115dup (p.Met2373AsnfsTer19) c.7112dup (p.Met2372AsnfsTer19) c.7067dup (p.Met2357AsnfsTer19) n.7732dup | |
X | g.77508401del | CA2520397795 | ATRX | c.7433del (p.Pro2478GlnfsTer2) c.2531del (p.Pro844GlnfsTer2) c.7319del (p.Pro2440GlnfsTer2) c.*7061del (n.*7061del) n.5753del c.7430del (p.Pro2477GlnfsTer2) c.7346del (p.Pro2449GlnfsTer2) c.7316del (p.Pro2439GlnfsTer2) c.7268del (p.Pro2423GlnfsTer2) c.7229del (p.Pro2410GlnfsTer2) c.7154del (p.Pro2385GlnfsTer2) n.9025del c.7343del (p.Pro2448GlnfsTer2) c.7313del (p.Pro2438GlnfsTer2) c.7265del (p.Pro2422GlnfsTer2) c.7232del (p.Pro2411GlnfsTer2) c.7202del (p.Pro2401GlnfsTer2) c.7199del (p.Pro2400GlnfsTer2) c.7151del (p.Pro2384GlnfsTer2) c.7115del (p.Pro2372GlnfsTer2) c.7112del (p.Pro2371GlnfsTer2) c.7067del (p.Pro2356GlnfsTer2) n.7732del | dbSNP |
X | g.77508398G>A | CA10457378 | ATRX | c.7432C>T (p.Pro2478Ser) c.2530C>T (p.Pro844Ser) c.7318C>T (p.Pro2440Ser) c.*7060C>T (n.*7060C>T) n.5752C>T c.7429C>T (p.Pro2477Ser) c.7345C>T (p.Pro2449Ser) c.7315C>T (p.Pro2439Ser) c.7267C>T (p.Pro2423Ser) c.7228C>T (p.Pro2410Ser) c.7153C>T (p.Pro2385Ser) n.9024C>T c.7342C>T (p.Pro2448Ser) c.7312C>T (p.Pro2438Ser) c.7264C>T (p.Pro2422Ser) c.7231C>T (p.Pro2411Ser) c.7201C>T (p.Pro2401Ser) c.7198C>T (p.Pro2400Ser) c.7150C>T (p.Pro2384Ser) c.7114C>T (p.Pro2372Ser) c.7111C>T (p.Pro2371Ser) c.7066C>T (p.Pro2356Ser) n.7731C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.77508398G>C | CA10457377 | ATRX | c.7432C>G (p.Pro2478Ala) c.2530C>G (p.Pro844Ala) c.7318C>G (p.Pro2440Ala) c.*7060C>G (n.*7060C>G) n.5752C>G c.7429C>G (p.Pro2477Ala) c.7345C>G (p.Pro2449Ala) c.7315C>G (p.Pro2439Ala) c.7267C>G (p.Pro2423Ala) c.7228C>G (p.Pro2410Ala) c.7153C>G (p.Pro2385Ala) n.9024C>G c.7342C>G (p.Pro2448Ala) c.7312C>G (p.Pro2438Ala) c.7264C>G (p.Pro2422Ala) c.7231C>G (p.Pro2411Ala) c.7201C>G (p.Pro2401Ala) c.7198C>G (p.Pro2400Ala) c.7150C>G (p.Pro2384Ala) c.7114C>G (p.Pro2372Ala) c.7111C>G (p.Pro2371Ala) c.7066C>G (p.Pro2356Ala) n.7731C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.77508398G= | CA2438929027 | ATRX | c.7432C= (p.Pro2478=) c.2530C= (p.Pro844=) c.7318C= (p.Pro2440=) c.*7060C= (n.*7060C=) n.5752C= c.7429C= (p.Pro2477=) c.7345C= (p.Pro2449=) c.7315C= (p.Pro2439=) c.7267C= (p.Pro2423=) c.7228C= (p.Pro2410=) c.7153C= (p.Pro2385=) n.9024C= c.7342C= (p.Pro2448=) c.7312C= (p.Pro2438=) c.7264C= (p.Pro2422=) c.7231C= (p.Pro2411=) c.7201C= (p.Pro2401=) c.7198C= (p.Pro2400=) c.7150C= (p.Pro2384=) c.7114C= (p.Pro2372=) c.7111C= (p.Pro2371=) c.7066C= (p.Pro2356=) n.7731C= | |
X | g.77508398G>T | CA413703661 | ATRX | c.7432C>A (p.Pro2478Thr) c.2530C>A (p.Pro844Thr) c.7318C>A (p.Pro2440Thr) c.*7060C>A (n.*7060C>A) n.5752C>A c.7429C>A (p.Pro2477Thr) c.7345C>A (p.Pro2449Thr) c.7315C>A (p.Pro2439Thr) c.7267C>A (p.Pro2423Thr) c.7228C>A (p.Pro2410Thr) c.7153C>A (p.Pro2385Thr) n.9024C>A c.7342C>A (p.Pro2448Thr) c.7312C>A (p.Pro2438Thr) c.7264C>A (p.Pro2422Thr) c.7231C>A (p.Pro2411Thr) c.7201C>A (p.Pro2401Thr) c.7198C>A (p.Pro2400Thr) c.7150C>A (p.Pro2384Thr) c.7114C>A (p.Pro2372Thr) c.7111C>A (p.Pro2371Thr) c.7066C>A (p.Pro2356Thr) n.7731C>A | dbSNP |
X | g.77508399G>A | CA517374000 | ATRX | c.7431C>T (p.Pro2477=) c.2529C>T (p.Pro843=) c.7317C>T (p.Pro2439=) c.*7059C>T (n.*7059C>T) n.5751C>T c.7428C>T (p.Pro2476=) c.7344C>T (p.Pro2448=) c.7314C>T (p.Pro2438=) c.7266C>T (p.Pro2422=) c.7227C>T (p.Pro2409=) c.7152C>T (p.Pro2384=) n.9023C>T c.7341C>T (p.Pro2447=) c.7311C>T (p.Pro2437=) c.7263C>T (p.Pro2421=) c.7230C>T (p.Pro2410=) c.7200C>T (p.Pro2400=) c.7197C>T (p.Pro2399=) c.7149C>T (p.Pro2383=) c.7113C>T (p.Pro2371=) c.7110C>T (p.Pro2370=) c.7065C>T (p.Pro2355=) n.7730C>T | ClinVar |
X | g.77508399G>C | CA517373999 | ATRX | c.7431C>G (p.Pro2477=) c.2529C>G (p.Pro843=) c.7317C>G (p.Pro2439=) c.*7059C>G (n.*7059C>G) n.5751C>G c.7428C>G (p.Pro2476=) c.7344C>G (p.Pro2448=) c.7314C>G (p.Pro2438=) c.7266C>G (p.Pro2422=) c.7227C>G (p.Pro2409=) c.7152C>G (p.Pro2384=) n.9023C>G c.7341C>G (p.Pro2447=) c.7311C>G (p.Pro2437=) c.7263C>G (p.Pro2421=) c.7230C>G (p.Pro2410=) c.7200C>G (p.Pro2400=) c.7197C>G (p.Pro2399=) c.7149C>G (p.Pro2383=) c.7113C>G (p.Pro2371=) c.7110C>G (p.Pro2370=) c.7065C>G (p.Pro2355=) n.7730C>G | |
X | g.77508399G>T | CA517374001 | ATRX | c.7431C>A (p.Pro2477=) c.2529C>A (p.Pro843=) c.7317C>A (p.Pro2439=) c.*7059C>A (n.*7059C>A) n.5751C>A c.7428C>A (p.Pro2476=) c.7344C>A (p.Pro2448=) c.7314C>A (p.Pro2438=) c.7266C>A (p.Pro2422=) c.7227C>A (p.Pro2409=) c.7152C>A (p.Pro2384=) n.9023C>A c.7341C>A (p.Pro2447=) c.7311C>A (p.Pro2437=) c.7263C>A (p.Pro2421=) c.7230C>A (p.Pro2410=) c.7200C>A (p.Pro2400=) c.7197C>A (p.Pro2399=) c.7149C>A (p.Pro2383=) c.7113C>A (p.Pro2371=) c.7110C>A (p.Pro2370=) c.7065C>A (p.Pro2355=) n.7730C>A | |
X | g.77508400G>A | CA413703674 | ATRX | c.7430C>T (p.Pro2477Leu) c.2528C>T (p.Pro843Leu) c.7316C>T (p.Pro2439Leu) c.*7058C>T (n.*7058C>T) n.5750C>T c.7427C>T (p.Pro2476Leu) c.7343C>T (p.Pro2448Leu) c.7313C>T (p.Pro2438Leu) c.7265C>T (p.Pro2422Leu) c.7226C>T (p.Pro2409Leu) c.7151C>T (p.Pro2384Leu) n.9022C>T c.7340C>T (p.Pro2447Leu) c.7310C>T (p.Pro2437Leu) c.7262C>T (p.Pro2421Leu) c.7229C>T (p.Pro2410Leu) c.7199C>T (p.Pro2400Leu) c.7196C>T (p.Pro2399Leu) c.7148C>T (p.Pro2383Leu) c.7112C>T (p.Pro2371Leu) c.7109C>T (p.Pro2370Leu) c.7064C>T (p.Pro2355Leu) n.7729C>T | |
X | g.77508400G>C | CA413703668 | ATRX | c.7430C>G (p.Pro2477Arg) c.2528C>G (p.Pro843Arg) c.7316C>G (p.Pro2439Arg) c.*7058C>G (n.*7058C>G) n.5750C>G c.7427C>G (p.Pro2476Arg) c.7343C>G (p.Pro2448Arg) c.7313C>G (p.Pro2438Arg) c.7265C>G (p.Pro2422Arg) c.7226C>G (p.Pro2409Arg) c.7151C>G (p.Pro2384Arg) n.9022C>G c.7340C>G (p.Pro2447Arg) c.7310C>G (p.Pro2437Arg) c.7262C>G (p.Pro2421Arg) c.7229C>G (p.Pro2410Arg) c.7199C>G (p.Pro2400Arg) c.7196C>G (p.Pro2399Arg) c.7148C>G (p.Pro2383Arg) c.7112C>G (p.Pro2371Arg) c.7109C>G (p.Pro2370Arg) c.7064C>G (p.Pro2355Arg) n.7729C>G | |
X | g.77508400G>T | CA413703671 | ATRX | c.7430C>A (p.Pro2477His) c.2528C>A (p.Pro843His) c.7316C>A (p.Pro2439His) c.*7058C>A (n.*7058C>A) n.5750C>A c.7427C>A (p.Pro2476His) c.7343C>A (p.Pro2448His) c.7313C>A (p.Pro2438His) c.7265C>A (p.Pro2422His) c.7226C>A (p.Pro2409His) c.7151C>A (p.Pro2384His) n.9022C>A c.7340C>A (p.Pro2447His) c.7310C>A (p.Pro2437His) c.7262C>A (p.Pro2421His) c.7229C>A (p.Pro2410His) c.7199C>A (p.Pro2400His) c.7196C>A (p.Pro2399His) c.7148C>A (p.Pro2383His) c.7112C>A (p.Pro2371His) c.7109C>A (p.Pro2370His) c.7064C>A (p.Pro2355His) n.7729C>A | COSMIC COSMIC |
X | g.77508401G>A | CA413703683 | ATRX | c.7429C>T (p.Pro2477Ser) c.2527C>T (p.Pro843Ser) c.7315C>T (p.Pro2439Ser) c.*7057C>T (n.*7057C>T) n.5749C>T c.7426C>T (p.Pro2476Ser) c.7342C>T (p.Pro2448Ser) c.7312C>T (p.Pro2438Ser) c.7264C>T (p.Pro2422Ser) c.7225C>T (p.Pro2409Ser) c.7150C>T (p.Pro2384Ser) n.9021C>T c.7339C>T (p.Pro2447Ser) c.7309C>T (p.Pro2437Ser) c.7261C>T (p.Pro2421Ser) c.7228C>T (p.Pro2410Ser) c.7198C>T (p.Pro2400Ser) c.7195C>T (p.Pro2399Ser) c.7147C>T (p.Pro2383Ser) c.7111C>T (p.Pro2371Ser) c.7108C>T (p.Pro2370Ser) c.7063C>T (p.Pro2355Ser) n.7728C>T | |
X | g.77508401G>C | CA413703686 | ATRX | c.7429C>G (p.Pro2477Ala) c.2527C>G (p.Pro843Ala) c.7315C>G (p.Pro2439Ala) c.*7057C>G (n.*7057C>G) n.5749C>G c.7426C>G (p.Pro2476Ala) c.7342C>G (p.Pro2448Ala) c.7312C>G (p.Pro2438Ala) c.7264C>G (p.Pro2422Ala) c.7225C>G (p.Pro2409Ala) c.7150C>G (p.Pro2384Ala) n.9021C>G c.7339C>G (p.Pro2447Ala) c.7309C>G (p.Pro2437Ala) c.7261C>G (p.Pro2421Ala) c.7228C>G (p.Pro2410Ala) c.7198C>G (p.Pro2400Ala) c.7195C>G (p.Pro2399Ala) c.7147C>G (p.Pro2383Ala) c.7111C>G (p.Pro2371Ala) c.7108C>G (p.Pro2370Ala) c.7063C>G (p.Pro2355Ala) n.7728C>G | |
X | g.77508401G= | CA2438929028 | ATRX | c.7429C= (p.Pro2477=) c.2527C= (p.Pro843=) c.7315C= (p.Pro2439=) c.*7057C= (n.*7057C=) n.5749C= c.7426C= (p.Pro2476=) c.7342C= (p.Pro2448=) c.7312C= (p.Pro2438=) c.7264C= (p.Pro2422=) c.7225C= (p.Pro2409=) c.7150C= (p.Pro2384=) n.9021C= c.7339C= (p.Pro2447=) c.7309C= (p.Pro2437=) c.7261C= (p.Pro2421=) c.7228C= (p.Pro2410=) c.7198C= (p.Pro2400=) c.7195C= (p.Pro2399=) c.7147C= (p.Pro2383=) c.7111C= (p.Pro2371=) c.7108C= (p.Pro2370=) c.7063C= (p.Pro2355=) n.7728C= | |
X | g.77508401G>T | CA413703690 | ATRX | c.7429C>A (p.Pro2477Thr) c.2527C>A (p.Pro843Thr) c.7315C>A (p.Pro2439Thr) c.*7057C>A (n.*7057C>A) n.5749C>A c.7426C>A (p.Pro2476Thr) c.7342C>A (p.Pro2448Thr) c.7312C>A (p.Pro2438Thr) c.7264C>A (p.Pro2422Thr) c.7225C>A (p.Pro2409Thr) c.7150C>A (p.Pro2384Thr) n.9021C>A c.7339C>A (p.Pro2447Thr) c.7309C>A (p.Pro2437Thr) c.7261C>A (p.Pro2421Thr) c.7228C>A (p.Pro2410Thr) c.7198C>A (p.Pro2400Thr) c.7195C>A (p.Pro2399Thr) c.7147C>A (p.Pro2383Thr) c.7111C>A (p.Pro2371Thr) c.7108C>A (p.Pro2370Thr) c.7063C>A (p.Pro2355Thr) n.7728C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.77508402T>A | CA517374003 | ATRX | c.7428A>T (p.Pro2476=) c.2526A>T (p.Pro842=) c.7314A>T (p.Pro2438=) c.*7056A>T (n.*7056A>T) n.5748A>T c.7425A>T (p.Pro2475=) c.7341A>T (p.Pro2447=) c.7311A>T (p.Pro2437=) c.7263A>T (p.Pro2421=) c.7224A>T (p.Pro2408=) c.7149A>T (p.Pro2383=) n.9020A>T c.7338A>T (p.Pro2446=) c.7308A>T (p.Pro2436=) c.7260A>T (p.Pro2420=) c.7227A>T (p.Pro2409=) c.7197A>T (p.Pro2399=) c.7194A>T (p.Pro2398=) c.7146A>T (p.Pro2382=) c.7110A>T (p.Pro2370=) c.7107A>T (p.Pro2369=) c.7062A>T (p.Pro2354=) n.7727A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.77508402T>C | CA517374004 | ATRX | c.7428A>G (p.Pro2476=) c.2526A>G (p.Pro842=) c.7314A>G (p.Pro2438=) c.*7056A>G (n.*7056A>G) n.5748A>G c.7425A>G (p.Pro2475=) c.7341A>G (p.Pro2447=) c.7311A>G (p.Pro2437=) c.7263A>G (p.Pro2421=) c.7224A>G (p.Pro2408=) c.7149A>G (p.Pro2383=) n.9020A>G c.7338A>G (p.Pro2446=) c.7308A>G (p.Pro2436=) c.7260A>G (p.Pro2420=) c.7227A>G (p.Pro2409=) c.7197A>G (p.Pro2399=) c.7194A>G (p.Pro2398=) c.7146A>G (p.Pro2382=) c.7110A>G (p.Pro2370=) c.7107A>G (p.Pro2369=) c.7062A>G (p.Pro2354=) n.7727A>G | dbSNP |
X | g.77508402T>G | CA517374005 | ATRX | c.7428A>C (p.Pro2476=) c.2526A>C (p.Pro842=) c.7314A>C (p.Pro2438=) c.*7056A>C (n.*7056A>C) n.5748A>C c.7425A>C (p.Pro2475=) c.7341A>C (p.Pro2447=) c.7311A>C (p.Pro2437=) c.7263A>C (p.Pro2421=) c.7224A>C (p.Pro2408=) c.7149A>C (p.Pro2383=) n.9020A>C c.7338A>C (p.Pro2446=) c.7308A>C (p.Pro2436=) c.7260A>C (p.Pro2420=) c.7227A>C (p.Pro2409=) c.7197A>C (p.Pro2399=) c.7194A>C (p.Pro2398=) c.7146A>C (p.Pro2382=) c.7110A>C (p.Pro2370=) c.7107A>C (p.Pro2369=) c.7062A>C (p.Pro2354=) n.7727A>C | |
X | g.77508402T= | CA2438929029 | ATRX | c.7428A= (p.Pro2476=) c.2526A= (p.Pro842=) c.7314A= (p.Pro2438=) c.*7056A= (n.*7056A=) n.5748A= c.7425A= (p.Pro2475=) c.7341A= (p.Pro2447=) c.7311A= (p.Pro2437=) c.7263A= (p.Pro2421=) c.7224A= (p.Pro2408=) c.7149A= (p.Pro2383=) n.9020A= c.7338A= (p.Pro2446=) c.7308A= (p.Pro2436=) c.7260A= (p.Pro2420=) c.7227A= (p.Pro2409=) c.7197A= (p.Pro2399=) c.7194A= (p.Pro2398=) c.7146A= (p.Pro2382=) c.7110A= (p.Pro2370=) c.7107A= (p.Pro2369=) c.7062A= (p.Pro2354=) n.7727A= | |
X | g.77508403G>A | CA413703701 | ATRX | c.7427C>T (p.Pro2476Leu) c.2525C>T (p.Pro842Leu) c.7313C>T (p.Pro2438Leu) c.*7055C>T (n.*7055C>T) n.5747C>T c.7424C>T (p.Pro2475Leu) c.7340C>T (p.Pro2447Leu) c.7310C>T (p.Pro2437Leu) c.7262C>T (p.Pro2421Leu) c.7223C>T (p.Pro2408Leu) c.7148C>T (p.Pro2383Leu) n.9019C>T c.7337C>T (p.Pro2446Leu) c.7307C>T (p.Pro2436Leu) c.7259C>T (p.Pro2420Leu) c.7226C>T (p.Pro2409Leu) c.7196C>T (p.Pro2399Leu) c.7193C>T (p.Pro2398Leu) c.7145C>T (p.Pro2382Leu) c.7109C>T (p.Pro2370Leu) c.7106C>T (p.Pro2369Leu) c.7061C>T (p.Pro2354Leu) n.7726C>T | dbSNP |
X | g.77508403G>C | CA413703698 | ATRX | c.7427C>G (p.Pro2476Arg) c.2525C>G (p.Pro842Arg) c.7313C>G (p.Pro2438Arg) c.*7055C>G (n.*7055C>G) n.5747C>G c.7424C>G (p.Pro2475Arg) c.7340C>G (p.Pro2447Arg) c.7310C>G (p.Pro2437Arg) c.7262C>G (p.Pro2421Arg) c.7223C>G (p.Pro2408Arg) c.7148C>G (p.Pro2383Arg) n.9019C>G c.7337C>G (p.Pro2446Arg) c.7307C>G (p.Pro2436Arg) c.7259C>G (p.Pro2420Arg) c.7226C>G (p.Pro2409Arg) c.7196C>G (p.Pro2399Arg) c.7193C>G (p.Pro2398Arg) c.7145C>G (p.Pro2382Arg) c.7109C>G (p.Pro2370Arg) c.7106C>G (p.Pro2369Arg) c.7061C>G (p.Pro2354Arg) n.7726C>G | |
X | g.77508403G>T | CA413703694 | ATRX | c.7427C>A (p.Pro2476Gln) c.2525C>A (p.Pro842Gln) c.7313C>A (p.Pro2438Gln) c.*7055C>A (n.*7055C>A) n.5747C>A c.7424C>A (p.Pro2475Gln) c.7340C>A (p.Pro2447Gln) c.7310C>A (p.Pro2437Gln) c.7262C>A (p.Pro2421Gln) c.7223C>A (p.Pro2408Gln) c.7148C>A (p.Pro2383Gln) n.9019C>A c.7337C>A (p.Pro2446Gln) c.7307C>A (p.Pro2436Gln) c.7259C>A (p.Pro2420Gln) c.7226C>A (p.Pro2409Gln) c.7196C>A (p.Pro2399Gln) c.7193C>A (p.Pro2398Gln) c.7145C>A (p.Pro2382Gln) c.7109C>A (p.Pro2370Gln) c.7106C>A (p.Pro2369Gln) c.7061C>A (p.Pro2354Gln) n.7726C>A | |
X | g.77508404G>A | CA413703702 | ATRX | c.7426C>T (p.Pro2476Ser) c.2524C>T (p.Pro842Ser) c.7312C>T (p.Pro2438Ser) c.*7054C>T (n.*7054C>T) n.5746C>T c.7423C>T (p.Pro2475Ser) c.7339C>T (p.Pro2447Ser) c.7309C>T (p.Pro2437Ser) c.7261C>T (p.Pro2421Ser) c.7222C>T (p.Pro2408Ser) c.7147C>T (p.Pro2383Ser) n.9018C>T c.7336C>T (p.Pro2446Ser) c.7306C>T (p.Pro2436Ser) c.7258C>T (p.Pro2420Ser) c.7225C>T (p.Pro2409Ser) c.7195C>T (p.Pro2399Ser) c.7192C>T (p.Pro2398Ser) c.7144C>T (p.Pro2382Ser) c.7108C>T (p.Pro2370Ser) c.7105C>T (p.Pro2369Ser) c.7060C>T (p.Pro2354Ser) n.7725C>T | |
X | g.77508404G>C | CA413703703 | ATRX | c.7426C>G (p.Pro2476Ala) c.2524C>G (p.Pro842Ala) c.7312C>G (p.Pro2438Ala) c.*7054C>G (n.*7054C>G) n.5746C>G c.7423C>G (p.Pro2475Ala) c.7339C>G (p.Pro2447Ala) c.7309C>G (p.Pro2437Ala) c.7261C>G (p.Pro2421Ala) c.7222C>G (p.Pro2408Ala) c.7147C>G (p.Pro2383Ala) n.9018C>G c.7336C>G (p.Pro2446Ala) c.7306C>G (p.Pro2436Ala) c.7258C>G (p.Pro2420Ala) c.7225C>G (p.Pro2409Ala) c.7195C>G (p.Pro2399Ala) c.7192C>G (p.Pro2398Ala) c.7144C>G (p.Pro2382Ala) c.7108C>G (p.Pro2370Ala) c.7105C>G (p.Pro2369Ala) c.7060C>G (p.Pro2354Ala) n.7725C>G | |
X | g.77508404G>T | CA413703704 | ATRX | c.7426C>A (p.Pro2476Thr) c.2524C>A (p.Pro842Thr) c.7312C>A (p.Pro2438Thr) c.*7054C>A (n.*7054C>A) n.5746C>A c.7423C>A (p.Pro2475Thr) c.7339C>A (p.Pro2447Thr) c.7309C>A (p.Pro2437Thr) c.7261C>A (p.Pro2421Thr) c.7222C>A (p.Pro2408Thr) c.7147C>A (p.Pro2383Thr) n.9018C>A c.7336C>A (p.Pro2446Thr) c.7306C>A (p.Pro2436Thr) c.7258C>A (p.Pro2420Thr) c.7225C>A (p.Pro2409Thr) c.7195C>A (p.Pro2399Thr) c.7192C>A (p.Pro2398Thr) c.7144C>A (p.Pro2382Thr) c.7108C>A (p.Pro2370Thr) c.7105C>A (p.Pro2369Thr) c.7060C>A (p.Pro2354Thr) n.7725C>A | |
X | g.77508405T>A | CA517374007 | ATRX | c.7425A>T (p.Ala2475=) c.2523A>T (p.Ala841=) c.7311A>T (p.Ala2437=) c.*7053A>T (n.*7053A>T) n.5745A>T c.7422A>T (p.Ala2474=) c.7338A>T (p.Ala2446=) c.7308A>T (p.Ala2436=) c.7260A>T (p.Ala2420=) c.7221A>T (p.Ala2407=) c.7146A>T (p.Ala2382=) n.9017A>T c.7335A>T (p.Ala2445=) c.7305A>T (p.Ala2435=) c.7257A>T (p.Ala2419=) c.7224A>T (p.Ala2408=) c.7194A>T (p.Ala2398=) c.7191A>T (p.Ala2397=) c.7143A>T (p.Ala2381=) c.7107A>T (p.Ala2369=) c.7104A>T (p.Ala2368=) c.7059A>T (p.Ala2353=) n.7724A>T | |
X | g.77508405T>C | CA331560033 | ATRX | c.7425A>G (p.Ala2475=) c.2523A>G (p.Ala841=) c.7311A>G (p.Ala2437=) c.*7053A>G (n.*7053A>G) n.5745A>G c.7422A>G (p.Ala2474=) c.7338A>G (p.Ala2446=) c.7308A>G (p.Ala2436=) c.7260A>G (p.Ala2420=) c.7221A>G (p.Ala2407=) c.7146A>G (p.Ala2382=) n.9017A>G c.7335A>G (p.Ala2445=) c.7305A>G (p.Ala2435=) c.7257A>G (p.Ala2419=) c.7224A>G (p.Ala2408=) c.7194A>G (p.Ala2398=) c.7191A>G (p.Ala2397=) c.7143A>G (p.Ala2381=) c.7107A>G (p.Ala2369=) c.7104A>G (p.Ala2368=) c.7059A>G (p.Ala2353=) n.7724A>G | ClinVar dbSNP |
X | g.77508405T>G | CA517374008 | ATRX | c.7425A>C (p.Ala2475=) c.2523A>C (p.Ala841=) c.7311A>C (p.Ala2437=) c.*7053A>C (n.*7053A>C) n.5745A>C c.7422A>C (p.Ala2474=) c.7338A>C (p.Ala2446=) c.7308A>C (p.Ala2436=) c.7260A>C (p.Ala2420=) c.7221A>C (p.Ala2407=) c.7146A>C (p.Ala2382=) n.9017A>C c.7335A>C (p.Ala2445=) c.7305A>C (p.Ala2435=) c.7257A>C (p.Ala2419=) c.7224A>C (p.Ala2408=) c.7194A>C (p.Ala2398=) c.7191A>C (p.Ala2397=) c.7143A>C (p.Ala2381=) c.7107A>C (p.Ala2369=) c.7104A>C (p.Ala2368=) c.7059A>C (p.Ala2353=) n.7724A>C | |
X | g.77508405T= | CA2438929030 | ATRX | c.7425A= (p.Ala2475=) c.2523A= (p.Ala841=) c.7311A= (p.Ala2437=) c.*7053A= (n.*7053A=) n.5745A= c.7422A= (p.Ala2474=) c.7338A= (p.Ala2446=) c.7308A= (p.Ala2436=) c.7260A= (p.Ala2420=) c.7221A= (p.Ala2407=) c.7146A= (p.Ala2382=) n.9017A= c.7335A= (p.Ala2445=) c.7305A= (p.Ala2435=) c.7257A= (p.Ala2419=) c.7224A= (p.Ala2408=) c.7194A= (p.Ala2398=) c.7191A= (p.Ala2397=) c.7143A= (p.Ala2381=) c.7107A= (p.Ala2369=) c.7104A= (p.Ala2368=) c.7059A= (p.Ala2353=) n.7724A= | |
X | g.77508406G>A | CA413703707 | ATRX | c.7424C>T (p.Ala2475Val) c.2522C>T (p.Ala841Val) c.7310C>T (p.Ala2437Val) c.*7052C>T (n.*7052C>T) n.5744C>T c.7421C>T (p.Ala2474Val) c.7337C>T (p.Ala2446Val) c.7307C>T (p.Ala2436Val) c.7259C>T (p.Ala2420Val) c.7220C>T (p.Ala2407Val) c.7145C>T (p.Ala2382Val) n.9016C>T c.7334C>T (p.Ala2445Val) c.7304C>T (p.Ala2435Val) c.7256C>T (p.Ala2419Val) c.7223C>T (p.Ala2408Val) c.7193C>T (p.Ala2398Val) c.7190C>T (p.Ala2397Val) c.7142C>T (p.Ala2381Val) c.7106C>T (p.Ala2369Val) c.7103C>T (p.Ala2368Val) c.7058C>T (p.Ala2353Val) n.7723C>T | dbSNP gnomAD v4 |
X | g.77508406G>C | CA413703710 | ATRX | c.7424C>G (p.Ala2475Gly) c.2522C>G (p.Ala841Gly) c.7310C>G (p.Ala2437Gly) c.*7052C>G (n.*7052C>G) n.5744C>G c.7421C>G (p.Ala2474Gly) c.7337C>G (p.Ala2446Gly) c.7307C>G (p.Ala2436Gly) c.7259C>G (p.Ala2420Gly) c.7220C>G (p.Ala2407Gly) c.7145C>G (p.Ala2382Gly) n.9016C>G c.7334C>G (p.Ala2445Gly) c.7304C>G (p.Ala2435Gly) c.7256C>G (p.Ala2419Gly) c.7223C>G (p.Ala2408Gly) c.7193C>G (p.Ala2398Gly) c.7190C>G (p.Ala2397Gly) c.7142C>G (p.Ala2381Gly) c.7106C>G (p.Ala2369Gly) c.7103C>G (p.Ala2368Gly) c.7058C>G (p.Ala2353Gly) n.7723C>G | |
X | g.77508406G>T | CA413703712 | ATRX | c.7424C>A (p.Ala2475Glu) c.2522C>A (p.Ala841Glu) c.7310C>A (p.Ala2437Glu) c.*7052C>A (n.*7052C>A) n.5744C>A c.7421C>A (p.Ala2474Glu) c.7337C>A (p.Ala2446Glu) c.7307C>A (p.Ala2436Glu) c.7259C>A (p.Ala2420Glu) c.7220C>A (p.Ala2407Glu) c.7145C>A (p.Ala2382Glu) n.9016C>A c.7334C>A (p.Ala2445Glu) c.7304C>A (p.Ala2435Glu) c.7256C>A (p.Ala2419Glu) c.7223C>A (p.Ala2408Glu) c.7193C>A (p.Ala2398Glu) c.7190C>A (p.Ala2397Glu) c.7142C>A (p.Ala2381Glu) c.7106C>A (p.Ala2369Glu) c.7103C>A (p.Ala2368Glu) c.7058C>A (p.Ala2353Glu) n.7723C>A | |
X | g.77508407C>A | CA413703717 | ATRX | c.7423G>T (p.Ala2475Ser) c.2521G>T (p.Ala841Ser) c.7309G>T (p.Ala2437Ser) c.*7051G>T (n.*7051G>T) n.5743G>T c.7420G>T (p.Ala2474Ser) c.7336G>T (p.Ala2446Ser) c.7306G>T (p.Ala2436Ser) c.7258G>T (p.Ala2420Ser) c.7219G>T (p.Ala2407Ser) c.7144G>T (p.Ala2382Ser) n.9015G>T c.7333G>T (p.Ala2445Ser) c.7303G>T (p.Ala2435Ser) c.7255G>T (p.Ala2419Ser) c.7222G>T (p.Ala2408Ser) c.7192G>T (p.Ala2398Ser) c.7189G>T (p.Ala2397Ser) c.7141G>T (p.Ala2381Ser) c.7105G>T (p.Ala2369Ser) c.7102G>T (p.Ala2368Ser) c.7057G>T (p.Ala2353Ser) n.7722G>T | |
X | g.77508407C= | CA2438929031 | ATRX | c.7423G= (p.Ala2475=) c.2521G= (p.Ala841=) c.7309G= (p.Ala2437=) c.*7051G= (n.*7051G=) n.5743G= c.7420G= (p.Ala2474=) c.7336G= (p.Ala2446=) c.7306G= (p.Ala2436=) c.7258G= (p.Ala2420=) c.7219G= (p.Ala2407=) c.7144G= (p.Ala2382=) n.9015G= c.7333G= (p.Ala2445=) c.7303G= (p.Ala2435=) c.7255G= (p.Ala2419=) c.7222G= (p.Ala2408=) c.7192G= (p.Ala2398=) c.7189G= (p.Ala2397=) c.7141G= (p.Ala2381=) c.7105G= (p.Ala2369=) c.7102G= (p.Ala2368=) c.7057G= (p.Ala2353=) n.7722G= | |
X | g.77508407C>G | CA413703722 | ATRX | c.7423G>C (p.Ala2475Pro) c.2521G>C (p.Ala841Pro) c.7309G>C (p.Ala2437Pro) c.*7051G>C (n.*7051G>C) n.5743G>C c.7420G>C (p.Ala2474Pro) c.7336G>C (p.Ala2446Pro) c.7306G>C (p.Ala2436Pro) c.7258G>C (p.Ala2420Pro) c.7219G>C (p.Ala2407Pro) c.7144G>C (p.Ala2382Pro) n.9015G>C c.7333G>C (p.Ala2445Pro) c.7303G>C (p.Ala2435Pro) c.7255G>C (p.Ala2419Pro) c.7222G>C (p.Ala2408Pro) c.7192G>C (p.Ala2398Pro) c.7189G>C (p.Ala2397Pro) c.7141G>C (p.Ala2381Pro) c.7105G>C (p.Ala2369Pro) c.7102G>C (p.Ala2368Pro) c.7057G>C (p.Ala2353Pro) n.7722G>C | dbSNP |
X | g.77508407C>T | CA413703719 | ATRX | c.7423G>A (p.Ala2475Thr) c.2521G>A (p.Ala841Thr) c.7309G>A (p.Ala2437Thr) c.*7051G>A (n.*7051G>A) n.5743G>A c.7420G>A (p.Ala2474Thr) c.7336G>A (p.Ala2446Thr) c.7306G>A (p.Ala2436Thr) c.7258G>A (p.Ala2420Thr) c.7219G>A (p.Ala2407Thr) c.7144G>A (p.Ala2382Thr) n.9015G>A c.7333G>A (p.Ala2445Thr) c.7303G>A (p.Ala2435Thr) c.7255G>A (p.Ala2419Thr) c.7222G>A (p.Ala2408Thr) c.7192G>A (p.Ala2398Thr) c.7189G>A (p.Ala2397Thr) c.7141G>A (p.Ala2381Thr) c.7105G>A (p.Ala2369Thr) c.7102G>A (p.Ala2368Thr) c.7057G>A (p.Ala2353Thr) n.7722G>A | dbSNP |
X | g.77508408A>C | CA517374010 | ATRX | c.7422T>G (p.Arg2474=) c.2520T>G (p.Arg840=) c.7308T>G (p.Arg2436=) c.*7050T>G (n.*7050T>G) n.5742T>G c.7419T>G (p.Arg2473=) c.7335T>G (p.Arg2445=) c.7305T>G (p.Arg2435=) c.7257T>G (p.Arg2419=) c.7218T>G (p.Arg2406=) c.7143T>G (p.Arg2381=) n.9014T>G c.7332T>G (p.Arg2444=) c.7302T>G (p.Arg2434=) c.7254T>G (p.Arg2418=) c.7221T>G (p.Arg2407=) c.7191T>G (p.Arg2397=) c.7188T>G (p.Arg2396=) c.7140T>G (p.Arg2380=) c.7104T>G (p.Arg2368=) c.7101T>G (p.Arg2367=) c.7056T>G (p.Arg2352=) n.7721T>G | |
X | g.77508408A>G | CA517374011 | ATRX | c.7422T>C (p.Arg2474=) c.2520T>C (p.Arg840=) c.7308T>C (p.Arg2436=) c.*7050T>C (n.*7050T>C) n.5742T>C c.7419T>C (p.Arg2473=) c.7335T>C (p.Arg2445=) c.7305T>C (p.Arg2435=) c.7257T>C (p.Arg2419=) c.7218T>C (p.Arg2406=) c.7143T>C (p.Arg2381=) n.9014T>C c.7332T>C (p.Arg2444=) c.7302T>C (p.Arg2434=) c.7254T>C (p.Arg2418=) c.7221T>C (p.Arg2407=) c.7191T>C (p.Arg2397=) c.7188T>C (p.Arg2396=) c.7140T>C (p.Arg2380=) c.7104T>C (p.Arg2368=) c.7101T>C (p.Arg2367=) c.7056T>C (p.Arg2352=) n.7721T>C | ClinVar |
X | g.77508408A>T | CA517374012 | ATRX | c.7422T>A (p.Arg2474=) c.2520T>A (p.Arg840=) c.7308T>A (p.Arg2436=) c.*7050T>A (n.*7050T>A) n.5742T>A c.7419T>A (p.Arg2473=) c.7335T>A (p.Arg2445=) c.7305T>A (p.Arg2435=) c.7257T>A (p.Arg2419=) c.7218T>A (p.Arg2406=) c.7143T>A (p.Arg2381=) n.9014T>A c.7332T>A (p.Arg2444=) c.7302T>A (p.Arg2434=) c.7254T>A (p.Arg2418=) c.7221T>A (p.Arg2407=) c.7191T>A (p.Arg2397=) c.7188T>A (p.Arg2396=) c.7140T>A (p.Arg2380=) c.7104T>A (p.Arg2368=) c.7101T>A (p.Arg2367=) c.7056T>A (p.Arg2352=) n.7721T>A | |
X | g.77508409C>A | CA413703725 | ATRX | c.7421G>T (p.Arg2474Leu) c.2519G>T (p.Arg840Leu) c.7307G>T (p.Arg2436Leu) c.*7049G>T (n.*7049G>T) n.5741G>T c.7418G>T (p.Arg2473Leu) c.7334G>T (p.Arg2445Leu) c.7304G>T (p.Arg2435Leu) c.7256G>T (p.Arg2419Leu) c.7217G>T (p.Arg2406Leu) c.7142G>T (p.Arg2381Leu) n.9013G>T c.7331G>T (p.Arg2444Leu) c.7301G>T (p.Arg2434Leu) c.7253G>T (p.Arg2418Leu) c.7220G>T (p.Arg2407Leu) c.7190G>T (p.Arg2397Leu) c.7187G>T (p.Arg2396Leu) c.7139G>T (p.Arg2380Leu) c.7103G>T (p.Arg2368Leu) c.7100G>T (p.Arg2367Leu) c.7055G>T (p.Arg2352Leu) n.7720G>T | gnomAD v4 |
X | g.77508409C= | CA2438929032 | ATRX | c.7421G= (p.Arg2474=) c.2519G= (p.Arg840=) c.7307G= (p.Arg2436=) c.*7049G= (n.*7049G=) n.5741G= c.7418G= (p.Arg2473=) c.7334G= (p.Arg2445=) c.7304G= (p.Arg2435=) c.7256G= (p.Arg2419=) c.7217G= (p.Arg2406=) c.7142G= (p.Arg2381=) n.9013G= c.7331G= (p.Arg2444=) c.7301G= (p.Arg2434=) c.7253G= (p.Arg2418=) c.7220G= (p.Arg2407=) c.7190G= (p.Arg2397=) c.7187G= (p.Arg2396=) c.7139G= (p.Arg2380=) c.7103G= (p.Arg2368=) c.7100G= (p.Arg2367=) c.7055G= (p.Arg2352=) n.7720G= | |
X | g.77508409C>G | CA413703734 | ATRX | c.7421G>C (p.Arg2474Pro) c.2519G>C (p.Arg840Pro) c.7307G>C (p.Arg2436Pro) c.*7049G>C (n.*7049G>C) n.5741G>C c.7418G>C (p.Arg2473Pro) c.7334G>C (p.Arg2445Pro) c.7304G>C (p.Arg2435Pro) c.7256G>C (p.Arg2419Pro) c.7217G>C (p.Arg2406Pro) c.7142G>C (p.Arg2381Pro) n.9013G>C c.7331G>C (p.Arg2444Pro) c.7301G>C (p.Arg2434Pro) c.7253G>C (p.Arg2418Pro) c.7220G>C (p.Arg2407Pro) c.7190G>C (p.Arg2397Pro) c.7187G>C (p.Arg2396Pro) c.7139G>C (p.Arg2380Pro) c.7103G>C (p.Arg2368Pro) c.7100G>C (p.Arg2367Pro) c.7055G>C (p.Arg2352Pro) n.7720G>C | |
X | g.77508409C>T | CA10457379 | ATRX | c.7421G>A (p.Arg2474His) c.2519G>A (p.Arg840His) c.7307G>A (p.Arg2436His) c.*7049G>A (n.*7049G>A) n.5741G>A c.7418G>A (p.Arg2473His) c.7334G>A (p.Arg2445His) c.7304G>A (p.Arg2435His) c.7256G>A (p.Arg2419His) c.7217G>A (p.Arg2406His) c.7142G>A (p.Arg2381His) n.9013G>A c.7331G>A (p.Arg2444His) c.7301G>A (p.Arg2434His) c.7253G>A (p.Arg2418His) c.7220G>A (p.Arg2407His) c.7190G>A (p.Arg2397His) c.7187G>A (p.Arg2396His) c.7139G>A (p.Arg2380His) c.7103G>A (p.Arg2368His) c.7100G>A (p.Arg2367His) c.7055G>A (p.Arg2352His) n.7720G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.77508410G>A | CA413703741 | ATRX | c.7420C>T (p.Arg2474Cys) c.2518C>T (p.Arg840Cys) c.7306C>T (p.Arg2436Cys) c.*7048C>T (n.*7048C>T) n.5740C>T c.7417C>T (p.Arg2473Cys) c.7333C>T (p.Arg2445Cys) c.7303C>T (p.Arg2435Cys) c.7255C>T (p.Arg2419Cys) c.7216C>T (p.Arg2406Cys) c.7141C>T (p.Arg2381Cys) n.9012C>T c.7330C>T (p.Arg2444Cys) c.7300C>T (p.Arg2434Cys) c.7252C>T (p.Arg2418Cys) c.7219C>T (p.Arg2407Cys) c.7189C>T (p.Arg2397Cys) c.7186C>T (p.Arg2396Cys) c.7138C>T (p.Arg2380Cys) c.7102C>T (p.Arg2368Cys) c.7099C>T (p.Arg2367Cys) c.7054C>T (p.Arg2352Cys) n.7719C>T | dbSNP gnomAD v4 COSMIC COSMIC |
X | g.77508410G>C | CA413703745 | ATRX | c.7420C>G (p.Arg2474Gly) c.2518C>G (p.Arg840Gly) c.7306C>G (p.Arg2436Gly) c.*7048C>G (n.*7048C>G) n.5740C>G c.7417C>G (p.Arg2473Gly) c.7333C>G (p.Arg2445Gly) c.7303C>G (p.Arg2435Gly) c.7255C>G (p.Arg2419Gly) c.7216C>G (p.Arg2406Gly) c.7141C>G (p.Arg2381Gly) n.9012C>G c.7330C>G (p.Arg2444Gly) c.7300C>G (p.Arg2434Gly) c.7252C>G (p.Arg2418Gly) c.7219C>G (p.Arg2407Gly) c.7189C>G (p.Arg2397Gly) c.7186C>G (p.Arg2396Gly) c.7138C>G (p.Arg2380Gly) c.7102C>G (p.Arg2368Gly) c.7099C>G (p.Arg2367Gly) c.7054C>G (p.Arg2352Gly) n.7719C>G | |
X | g.77508410G>T | CA413703749 | ATRX | c.7420C>A (p.Arg2474Ser) c.2518C>A (p.Arg840Ser) c.7306C>A (p.Arg2436Ser) c.*7048C>A (n.*7048C>A) n.5740C>A c.7417C>A (p.Arg2473Ser) c.7333C>A (p.Arg2445Ser) c.7303C>A (p.Arg2435Ser) c.7255C>A (p.Arg2419Ser) c.7216C>A (p.Arg2406Ser) c.7141C>A (p.Arg2381Ser) n.9012C>A c.7330C>A (p.Arg2444Ser) c.7300C>A (p.Arg2434Ser) c.7252C>A (p.Arg2418Ser) c.7219C>A (p.Arg2407Ser) c.7189C>A (p.Arg2397Ser) c.7186C>A (p.Arg2396Ser) c.7138C>A (p.Arg2380Ser) c.7102C>A (p.Arg2368Ser) c.7099C>A (p.Arg2367Ser) c.7054C>A (p.Arg2352Ser) n.7719C>A | |
X | g.77508411C>A | CA413703752 | ATRX | c.7419G>T (p.Gln2473His) c.2517G>T (p.Gln839His) c.7305G>T (p.Gln2435His) c.*7047G>T (n.*7047G>T) n.5739G>T c.7416G>T (p.Gln2472His) c.7332G>T (p.Gln2444His) c.7302G>T (p.Gln2434His) c.7254G>T (p.Gln2418His) c.7215G>T (p.Gln2405His) c.7140G>T (p.Gln2380His) n.9011G>T c.7329G>T (p.Gln2443His) c.7299G>T (p.Gln2433His) c.7251G>T (p.Gln2417His) c.7218G>T (p.Gln2406His) c.7188G>T (p.Gln2396His) c.7185G>T (p.Gln2395His) c.7137G>T (p.Gln2379His) c.7101G>T (p.Gln2367His) c.7098G>T (p.Gln2366His) c.7053G>T (p.Gln2351His) n.7718G>T | |
X | g.77508411C>G | CA413703755 | ATRX | c.7419G>C (p.Gln2473His) c.2517G>C (p.Gln839His) c.7305G>C (p.Gln2435His) c.*7047G>C (n.*7047G>C) n.5739G>C c.7416G>C (p.Gln2472His) c.7332G>C (p.Gln2444His) c.7302G>C (p.Gln2434His) c.7254G>C (p.Gln2418His) c.7215G>C (p.Gln2405His) c.7140G>C (p.Gln2380His) n.9011G>C c.7329G>C (p.Gln2443His) c.7299G>C (p.Gln2433His) c.7251G>C (p.Gln2417His) c.7218G>C (p.Gln2406His) c.7188G>C (p.Gln2396His) c.7185G>C (p.Gln2395His) c.7137G>C (p.Gln2379His) c.7101G>C (p.Gln2367His) c.7098G>C (p.Gln2366His) c.7053G>C (p.Gln2351His) n.7718G>C | |
X | g.77508411C>T | CA517374015 | ATRX | c.7419G>A (p.Gln2473=) c.2517G>A (p.Gln839=) c.7305G>A (p.Gln2435=) c.*7047G>A (n.*7047G>A) n.5739G>A c.7416G>A (p.Gln2472=) c.7332G>A (p.Gln2444=) c.7302G>A (p.Gln2434=) c.7254G>A (p.Gln2418=) c.7215G>A (p.Gln2405=) c.7140G>A (p.Gln2380=) n.9011G>A c.7329G>A (p.Gln2443=) c.7299G>A (p.Gln2433=) c.7251G>A (p.Gln2417=) c.7218G>A (p.Gln2406=) c.7188G>A (p.Gln2396=) c.7185G>A (p.Gln2395=) c.7137G>A (p.Gln2379=) c.7101G>A (p.Gln2367=) c.7098G>A (p.Gln2366=) c.7053G>A (p.Gln2351=) n.7718G>A | |
X | g.77508412T>A | CA413703762 | ATRX | c.7418A>T (p.Gln2473Leu) c.2516A>T (p.Gln839Leu) c.7304A>T (p.Gln2435Leu) c.*7046A>T (n.*7046A>T) n.5738A>T c.7415A>T (p.Gln2472Leu) c.7331A>T (p.Gln2444Leu) c.7301A>T (p.Gln2434Leu) c.7253A>T (p.Gln2418Leu) c.7214A>T (p.Gln2405Leu) c.7139A>T (p.Gln2380Leu) n.9010A>T c.7328A>T (p.Gln2443Leu) c.7298A>T (p.Gln2433Leu) c.7250A>T (p.Gln2417Leu) c.7217A>T (p.Gln2406Leu) c.7187A>T (p.Gln2396Leu) c.7184A>T (p.Gln2395Leu) c.7136A>T (p.Gln2379Leu) c.7100A>T (p.Gln2367Leu) c.7097A>T (p.Gln2366Leu) c.7052A>T (p.Gln2351Leu) n.7717A>T | |
X | g.77508412T>C | CA413703766 | ATRX | c.7418A>G (p.Gln2473Arg) c.2516A>G (p.Gln839Arg) c.7304A>G (p.Gln2435Arg) c.*7046A>G (n.*7046A>G) n.5738A>G c.7415A>G (p.Gln2472Arg) c.7331A>G (p.Gln2444Arg) c.7301A>G (p.Gln2434Arg) c.7253A>G (p.Gln2418Arg) c.7214A>G (p.Gln2405Arg) c.7139A>G (p.Gln2380Arg) n.9010A>G c.7328A>G (p.Gln2443Arg) c.7298A>G (p.Gln2433Arg) c.7250A>G (p.Gln2417Arg) c.7217A>G (p.Gln2406Arg) c.7187A>G (p.Gln2396Arg) c.7184A>G (p.Gln2395Arg) c.7136A>G (p.Gln2379Arg) c.7100A>G (p.Gln2367Arg) c.7097A>G (p.Gln2366Arg) c.7052A>G (p.Gln2351Arg) n.7717A>G | |
X | g.77508412T>G | CA413703770 | ATRX | c.7418A>C (p.Gln2473Pro) c.2516A>C (p.Gln839Pro) c.7304A>C (p.Gln2435Pro) c.*7046A>C (n.*7046A>C) n.5738A>C c.7415A>C (p.Gln2472Pro) c.7331A>C (p.Gln2444Pro) c.7301A>C (p.Gln2434Pro) c.7253A>C (p.Gln2418Pro) c.7214A>C (p.Gln2405Pro) c.7139A>C (p.Gln2380Pro) n.9010A>C c.7328A>C (p.Gln2443Pro) c.7298A>C (p.Gln2433Pro) c.7250A>C (p.Gln2417Pro) c.7217A>C (p.Gln2406Pro) c.7187A>C (p.Gln2396Pro) c.7184A>C (p.Gln2395Pro) c.7136A>C (p.Gln2379Pro) c.7100A>C (p.Gln2367Pro) c.7097A>C (p.Gln2366Pro) c.7052A>C (p.Gln2351Pro) n.7717A>C | |
X | g.77508413G>A | CA413703775 | ATRX | c.7417C>T (p.Gln2473Ter) c.2515C>T (p.Gln839Ter) c.7303C>T (p.Gln2435Ter) c.*7045C>T (n.*7045C>T) n.5737C>T c.7414C>T (p.Gln2472Ter) c.7330C>T (p.Gln2444Ter) c.7300C>T (p.Gln2434Ter) c.7252C>T (p.Gln2418Ter) c.7213C>T (p.Gln2405Ter) c.7138C>T (p.Gln2380Ter) n.9009C>T c.7327C>T (p.Gln2443Ter) c.7297C>T (p.Gln2433Ter) c.7249C>T (p.Gln2417Ter) c.7216C>T (p.Gln2406Ter) c.7186C>T (p.Gln2396Ter) c.7183C>T (p.Gln2395Ter) c.7135C>T (p.Gln2379Ter) c.7099C>T (p.Gln2367Ter) c.7096C>T (p.Gln2366Ter) c.7051C>T (p.Gln2351Ter) n.7716C>T | dbSNP |
X | g.77508413G>C | CA413703774 | ATRX | c.7417C>G (p.Gln2473Glu) c.2515C>G (p.Gln839Glu) c.7303C>G (p.Gln2435Glu) c.*7045C>G (n.*7045C>G) n.5737C>G c.7414C>G (p.Gln2472Glu) c.7330C>G (p.Gln2444Glu) c.7300C>G (p.Gln2434Glu) c.7252C>G (p.Gln2418Glu) c.7213C>G (p.Gln2405Glu) c.7138C>G (p.Gln2380Glu) n.9009C>G c.7327C>G (p.Gln2443Glu) c.7297C>G (p.Gln2433Glu) c.7249C>G (p.Gln2417Glu) c.7216C>G (p.Gln2406Glu) c.7186C>G (p.Gln2396Glu) c.7183C>G (p.Gln2395Glu) c.7135C>G (p.Gln2379Glu) c.7099C>G (p.Gln2367Glu) c.7096C>G (p.Gln2366Glu) c.7051C>G (p.Gln2351Glu) n.7716C>G | |
X | g.77508413G>T | CA413703773 | ATRX | c.7417C>A (p.Gln2473Lys) c.2515C>A (p.Gln839Lys) c.7303C>A (p.Gln2435Lys) c.*7045C>A (n.*7045C>A) n.5737C>A c.7414C>A (p.Gln2472Lys) c.7330C>A (p.Gln2444Lys) c.7300C>A (p.Gln2434Lys) c.7252C>A (p.Gln2418Lys) c.7213C>A (p.Gln2405Lys) c.7138C>A (p.Gln2380Lys) n.9009C>A c.7327C>A (p.Gln2443Lys) c.7297C>A (p.Gln2433Lys) c.7249C>A (p.Gln2417Lys) c.7216C>A (p.Gln2406Lys) c.7186C>A (p.Gln2396Lys) c.7183C>A (p.Gln2395Lys) c.7135C>A (p.Gln2379Lys) c.7099C>A (p.Gln2367Lys) c.7096C>A (p.Gln2366Lys) c.7051C>A (p.Gln2351Lys) n.7716C>A | |
X | g.77508414T>A | CA413703778 | ATRX | c.7416A>T (p.Leu2472Phe) c.2514A>T (p.Leu838Phe) c.7302A>T (p.Leu2434Phe) c.*7044A>T (n.*7044A>T) n.5736A>T c.7413A>T (p.Leu2471Phe) c.7329A>T (p.Leu2443Phe) c.7299A>T (p.Leu2433Phe) c.7251A>T (p.Leu2417Phe) c.7212A>T (p.Leu2404Phe) c.7137A>T (p.Leu2379Phe) n.9008A>T c.7326A>T (p.Leu2442Phe) c.7296A>T (p.Leu2432Phe) c.7248A>T (p.Leu2416Phe) c.7215A>T (p.Leu2405Phe) c.7185A>T (p.Leu2395Phe) c.7182A>T (p.Leu2394Phe) c.7134A>T (p.Leu2378Phe) c.7098A>T (p.Leu2366Phe) c.7095A>T (p.Leu2365Phe) c.7050A>T (p.Leu2350Phe) n.7715A>T | |
X | g.77508414T>C | CA517374019 | ATRX | c.7416A>G (p.Leu2472=) c.2514A>G (p.Leu838=) c.7302A>G (p.Leu2434=) c.*7044A>G (n.*7044A>G) n.5736A>G c.7413A>G (p.Leu2471=) c.7329A>G (p.Leu2443=) c.7299A>G (p.Leu2433=) c.7251A>G (p.Leu2417=) c.7212A>G (p.Leu2404=) c.7137A>G (p.Leu2379=) n.9008A>G c.7326A>G (p.Leu2442=) c.7296A>G (p.Leu2432=) c.7248A>G (p.Leu2416=) c.7215A>G (p.Leu2405=) c.7185A>G (p.Leu2395=) c.7182A>G (p.Leu2394=) c.7134A>G (p.Leu2378=) c.7098A>G (p.Leu2366=) c.7095A>G (p.Leu2365=) c.7050A>G (p.Leu2350=) n.7715A>G | |
X | g.77508414T>G | CA413703776 | ATRX | c.7416A>C (p.Leu2472Phe) c.2514A>C (p.Leu838Phe) c.7302A>C (p.Leu2434Phe) c.*7044A>C (n.*7044A>C) n.5736A>C c.7413A>C (p.Leu2471Phe) c.7329A>C (p.Leu2443Phe) c.7299A>C (p.Leu2433Phe) c.7251A>C (p.Leu2417Phe) c.7212A>C (p.Leu2404Phe) c.7137A>C (p.Leu2379Phe) n.9008A>C c.7326A>C (p.Leu2442Phe) c.7296A>C (p.Leu2432Phe) c.7248A>C (p.Leu2416Phe) c.7215A>C (p.Leu2405Phe) c.7185A>C (p.Leu2395Phe) c.7182A>C (p.Leu2394Phe) c.7134A>C (p.Leu2378Phe) c.7098A>C (p.Leu2366Phe) c.7095A>C (p.Leu2365Phe) c.7050A>C (p.Leu2350Phe) n.7715A>C | |
X | g.77508415A>C | CA413703787 | ATRX | c.7415T>G (p.Leu2472Ter) c.2513T>G (p.Leu838Ter) c.7301T>G (p.Leu2434Ter) c.*7043T>G (n.*7043T>G) n.5735T>G c.7412T>G (p.Leu2471Ter) c.7328T>G (p.Leu2443Ter) c.7298T>G (p.Leu2433Ter) c.7250T>G (p.Leu2417Ter) c.7211T>G (p.Leu2404Ter) c.7136T>G (p.Leu2379Ter) n.9007T>G c.7325T>G (p.Leu2442Ter) c.7295T>G (p.Leu2432Ter) c.7247T>G (p.Leu2416Ter) c.7214T>G (p.Leu2405Ter) c.7184T>G (p.Leu2395Ter) c.7181T>G (p.Leu2394Ter) c.7133T>G (p.Leu2378Ter) c.7097T>G (p.Leu2366Ter) c.7094T>G (p.Leu2365Ter) c.7049T>G (p.Leu2350Ter) n.7714T>G | |
X | g.77508415A>G | CA413703790 | ATRX | c.7415T>C (p.Leu2472Ser) c.2513T>C (p.Leu838Ser) c.7301T>C (p.Leu2434Ser) c.*7043T>C (n.*7043T>C) n.5735T>C c.7412T>C (p.Leu2471Ser) c.7328T>C (p.Leu2443Ser) c.7298T>C (p.Leu2433Ser) c.7250T>C (p.Leu2417Ser) c.7211T>C (p.Leu2404Ser) c.7136T>C (p.Leu2379Ser) n.9007T>C c.7325T>C (p.Leu2442Ser) c.7295T>C (p.Leu2432Ser) c.7247T>C (p.Leu2416Ser) c.7214T>C (p.Leu2405Ser) c.7184T>C (p.Leu2395Ser) c.7181T>C (p.Leu2394Ser) c.7133T>C (p.Leu2378Ser) c.7097T>C (p.Leu2366Ser) c.7094T>C (p.Leu2365Ser) c.7049T>C (p.Leu2350Ser) n.7714T>C | gnomAD v4 |
X | g.77508415A>T | CA413703805 | ATRX | c.7415T>A (p.Leu2472Ter) c.2513T>A (p.Leu838Ter) c.7301T>A (p.Leu2434Ter) c.*7043T>A (n.*7043T>A) n.5735T>A c.7412T>A (p.Leu2471Ter) c.7328T>A (p.Leu2443Ter) c.7298T>A (p.Leu2433Ter) c.7250T>A (p.Leu2417Ter) c.7211T>A (p.Leu2404Ter) c.7136T>A (p.Leu2379Ter) n.9007T>A c.7325T>A (p.Leu2442Ter) c.7295T>A (p.Leu2432Ter) c.7247T>A (p.Leu2416Ter) c.7214T>A (p.Leu2405Ter) c.7184T>A (p.Leu2395Ter) c.7181T>A (p.Leu2394Ter) c.7133T>A (p.Leu2378Ter) c.7097T>A (p.Leu2366Ter) c.7094T>A (p.Leu2365Ter) c.7049T>A (p.Leu2350Ter) n.7714T>A | |
X | g.77508416A>C | CA413703807 | ATRX | c.7414T>G (p.Leu2472Val) c.2512T>G (p.Leu838Val) c.7300T>G (p.Leu2434Val) c.*7042T>G (n.*7042T>G) n.5734T>G c.7411T>G (p.Leu2471Val) c.7327T>G (p.Leu2443Val) c.7297T>G (p.Leu2433Val) c.7249T>G (p.Leu2417Val) c.7210T>G (p.Leu2404Val) c.7135T>G (p.Leu2379Val) n.9006T>G c.7324T>G (p.Leu2442Val) c.7294T>G (p.Leu2432Val) c.7246T>G (p.Leu2416Val) c.7213T>G (p.Leu2405Val) c.7183T>G (p.Leu2395Val) c.7180T>G (p.Leu2394Val) c.7132T>G (p.Leu2378Val) c.7096T>G (p.Leu2366Val) c.7093T>G (p.Leu2365Val) c.7048T>G (p.Leu2350Val) n.7713T>G | |
X | g.77508416A>G | CA517374021 | ATRX | c.7414T>C (p.Leu2472=) c.2512T>C (p.Leu838=) c.7300T>C (p.Leu2434=) c.*7042T>C (n.*7042T>C) n.5734T>C c.7411T>C (p.Leu2471=) c.7327T>C (p.Leu2443=) c.7297T>C (p.Leu2433=) c.7249T>C (p.Leu2417=) c.7210T>C (p.Leu2404=) c.7135T>C (p.Leu2379=) n.9006T>C c.7324T>C (p.Leu2442=) c.7294T>C (p.Leu2432=) c.7246T>C (p.Leu2416=) c.7213T>C (p.Leu2405=) c.7183T>C (p.Leu2395=) c.7180T>C (p.Leu2394=) c.7132T>C (p.Leu2378=) c.7096T>C (p.Leu2366=) c.7093T>C (p.Leu2365=) c.7048T>C (p.Leu2350=) n.7713T>C | |
X | g.77508416A>T | CA413703809 | ATRX | c.7414T>A (p.Leu2472Ile) c.2512T>A (p.Leu838Ile) c.7300T>A (p.Leu2434Ile) c.*7042T>A (n.*7042T>A) n.5734T>A c.7411T>A (p.Leu2471Ile) c.7327T>A (p.Leu2443Ile) c.7297T>A (p.Leu2433Ile) c.7249T>A (p.Leu2417Ile) c.7210T>A (p.Leu2404Ile) c.7135T>A (p.Leu2379Ile) n.9006T>A c.7324T>A (p.Leu2442Ile) c.7294T>A (p.Leu2432Ile) c.7246T>A (p.Leu2416Ile) c.7213T>A (p.Leu2405Ile) c.7183T>A (p.Leu2395Ile) c.7180T>A (p.Leu2394Ile) c.7132T>A (p.Leu2378Ile) c.7096T>A (p.Leu2366Ile) c.7093T>A (p.Leu2365Ile) c.7048T>A (p.Leu2350Ile) n.7713T>A | |
X | g.77508417T>A | CA517374022 | ATRX | c.7413A>T (p.Pro2471=) c.2511A>T (p.Pro837=) c.7299A>T (p.Pro2433=) c.*7041A>T (n.*7041A>T) n.5733A>T c.7410A>T (p.Pro2470=) c.7326A>T (p.Pro2442=) c.7296A>T (p.Pro2432=) c.7248A>T (p.Pro2416=) c.7209A>T (p.Pro2403=) c.7134A>T (p.Pro2378=) n.9005A>T c.7323A>T (p.Pro2441=) c.7293A>T (p.Pro2431=) c.7245A>T (p.Pro2415=) c.7212A>T (p.Pro2404=) c.7182A>T (p.Pro2394=) c.7179A>T (p.Pro2393=) c.7131A>T (p.Pro2377=) c.7095A>T (p.Pro2365=) c.7092A>T (p.Pro2364=) c.7047A>T (p.Pro2349=) n.7712A>T | |
X | g.77508417T>C | CA517374023 | ATRX | c.7413A>G (p.Pro2471=) c.2511A>G (p.Pro837=) c.7299A>G (p.Pro2433=) c.*7041A>G (n.*7041A>G) n.5733A>G c.7410A>G (p.Pro2470=) c.7326A>G (p.Pro2442=) c.7296A>G (p.Pro2432=) c.7248A>G (p.Pro2416=) c.7209A>G (p.Pro2403=) c.7134A>G (p.Pro2378=) n.9005A>G c.7323A>G (p.Pro2441=) c.7293A>G (p.Pro2431=) c.7245A>G (p.Pro2415=) c.7212A>G (p.Pro2404=) c.7182A>G (p.Pro2394=) c.7179A>G (p.Pro2393=) c.7131A>G (p.Pro2377=) c.7095A>G (p.Pro2365=) c.7092A>G (p.Pro2364=) c.7047A>G (p.Pro2349=) n.7712A>G | ClinVar |
X | g.77508417T>G | CA517374024 | ATRX | c.7413A>C (p.Pro2471=) c.2511A>C (p.Pro837=) c.7299A>C (p.Pro2433=) c.*7041A>C (n.*7041A>C) n.5733A>C c.7410A>C (p.Pro2470=) c.7326A>C (p.Pro2442=) c.7296A>C (p.Pro2432=) c.7248A>C (p.Pro2416=) c.7209A>C (p.Pro2403=) c.7134A>C (p.Pro2378=) n.9005A>C c.7323A>C (p.Pro2441=) c.7293A>C (p.Pro2431=) c.7245A>C (p.Pro2415=) c.7212A>C (p.Pro2404=) c.7182A>C (p.Pro2394=) c.7179A>C (p.Pro2393=) c.7131A>C (p.Pro2377=) c.7095A>C (p.Pro2365=) c.7092A>C (p.Pro2364=) c.7047A>C (p.Pro2349=) n.7712A>C | |
X | g.77508418G>A | CA413703812 | ATRX | c.7412C>T (p.Pro2471Leu) c.2510C>T (p.Pro837Leu) c.7298C>T (p.Pro2433Leu) c.*7040C>T (n.*7040C>T) n.5732C>T c.7409C>T (p.Pro2470Leu) c.7325C>T (p.Pro2442Leu) c.7295C>T (p.Pro2432Leu) c.7247C>T (p.Pro2416Leu) c.7208C>T (p.Pro2403Leu) c.7133C>T (p.Pro2378Leu) n.9004C>T c.7322C>T (p.Pro2441Leu) c.7292C>T (p.Pro2431Leu) c.7244C>T (p.Pro2415Leu) c.7211C>T (p.Pro2404Leu) c.7181C>T (p.Pro2394Leu) c.7178C>T (p.Pro2393Leu) c.7130C>T (p.Pro2377Leu) c.7094C>T (p.Pro2365Leu) c.7091C>T (p.Pro2364Leu) c.7046C>T (p.Pro2349Leu) n.7711C>T | COSMIC COSMIC |
X | g.77508418G>C | CA413703813 | ATRX | c.7412C>G (p.Pro2471Arg) c.2510C>G (p.Pro837Arg) c.7298C>G (p.Pro2433Arg) c.*7040C>G (n.*7040C>G) n.5732C>G c.7409C>G (p.Pro2470Arg) c.7325C>G (p.Pro2442Arg) c.7295C>G (p.Pro2432Arg) c.7247C>G (p.Pro2416Arg) c.7208C>G (p.Pro2403Arg) c.7133C>G (p.Pro2378Arg) n.9004C>G c.7322C>G (p.Pro2441Arg) c.7292C>G (p.Pro2431Arg) c.7244C>G (p.Pro2415Arg) c.7211C>G (p.Pro2404Arg) c.7181C>G (p.Pro2394Arg) c.7178C>G (p.Pro2393Arg) c.7130C>G (p.Pro2377Arg) c.7094C>G (p.Pro2365Arg) c.7091C>G (p.Pro2364Arg) c.7046C>G (p.Pro2349Arg) n.7711C>G | |
X | g.77508418G>T | CA413703814 | ATRX | c.7412C>A (p.Pro2471Gln) c.2510C>A (p.Pro837Gln) c.7298C>A (p.Pro2433Gln) c.*7040C>A (n.*7040C>A) n.5732C>A c.7409C>A (p.Pro2470Gln) c.7325C>A (p.Pro2442Gln) c.7295C>A (p.Pro2432Gln) c.7247C>A (p.Pro2416Gln) c.7208C>A (p.Pro2403Gln) c.7133C>A (p.Pro2378Gln) n.9004C>A c.7322C>A (p.Pro2441Gln) c.7292C>A (p.Pro2431Gln) c.7244C>A (p.Pro2415Gln) c.7211C>A (p.Pro2404Gln) c.7181C>A (p.Pro2394Gln) c.7178C>A (p.Pro2393Gln) c.7130C>A (p.Pro2377Gln) c.7094C>A (p.Pro2365Gln) c.7091C>A (p.Pro2364Gln) c.7046C>A (p.Pro2349Gln) n.7711C>A | COSMIC COSMIC |
X | g.77508419G>A | CA413703817 | ATRX | c.7411C>T (p.Pro2471Ser) c.2509C>T (p.Pro837Ser) c.7297C>T (p.Pro2433Ser) c.*7039C>T (n.*7039C>T) n.5731C>T c.7408C>T (p.Pro2470Ser) c.7324C>T (p.Pro2442Ser) c.7294C>T (p.Pro2432Ser) c.7246C>T (p.Pro2416Ser) c.7207C>T (p.Pro2403Ser) c.7132C>T (p.Pro2378Ser) n.9003C>T c.7321C>T (p.Pro2441Ser) c.7291C>T (p.Pro2431Ser) c.7243C>T (p.Pro2415Ser) c.7210C>T (p.Pro2404Ser) c.7180C>T (p.Pro2394Ser) c.7177C>T (p.Pro2393Ser) c.7129C>T (p.Pro2377Ser) c.7093C>T (p.Pro2365Ser) c.7090C>T (p.Pro2364Ser) c.7045C>T (p.Pro2349Ser) n.7710C>T | dbSNP |
X | g.77508419G>C | CA413703819 | ATRX | c.7411C>G (p.Pro2471Ala) c.2509C>G (p.Pro837Ala) c.7297C>G (p.Pro2433Ala) c.*7039C>G (n.*7039C>G) n.5731C>G c.7408C>G (p.Pro2470Ala) c.7324C>G (p.Pro2442Ala) c.7294C>G (p.Pro2432Ala) c.7246C>G (p.Pro2416Ala) c.7207C>G (p.Pro2403Ala) c.7132C>G (p.Pro2378Ala) n.9003C>G c.7321C>G (p.Pro2441Ala) c.7291C>G (p.Pro2431Ala) c.7243C>G (p.Pro2415Ala) c.7210C>G (p.Pro2404Ala) c.7180C>G (p.Pro2394Ala) c.7177C>G (p.Pro2393Ala) c.7129C>G (p.Pro2377Ala) c.7093C>G (p.Pro2365Ala) c.7090C>G (p.Pro2364Ala) c.7045C>G (p.Pro2349Ala) n.7710C>G | dbSNP |
X | g.77508419G>T | CA413703822 | ATRX | c.7411C>A (p.Pro2471Thr) c.2509C>A (p.Pro837Thr) c.7297C>A (p.Pro2433Thr) c.*7039C>A (n.*7039C>A) n.5731C>A c.7408C>A (p.Pro2470Thr) c.7324C>A (p.Pro2442Thr) c.7294C>A (p.Pro2432Thr) c.7246C>A (p.Pro2416Thr) c.7207C>A (p.Pro2403Thr) c.7132C>A (p.Pro2378Thr) n.9003C>A c.7321C>A (p.Pro2441Thr) c.7291C>A (p.Pro2431Thr) c.7243C>A (p.Pro2415Thr) c.7210C>A (p.Pro2404Thr) c.7180C>A (p.Pro2394Thr) c.7177C>A (p.Pro2393Thr) c.7129C>A (p.Pro2377Thr) c.7093C>A (p.Pro2365Thr) c.7090C>A (p.Pro2364Thr) c.7045C>A (p.Pro2349Thr) n.7710C>A | |
X | g.77508420T>A | CA517374026 | ATRX | c.7410A>T (p.Pro2470=) c.2508A>T (p.Pro836=) c.7296A>T (p.Pro2432=) c.*7038A>T (n.*7038A>T) n.5730A>T c.7407A>T (p.Pro2469=) c.7323A>T (p.Pro2441=) c.7293A>T (p.Pro2431=) c.7245A>T (p.Pro2415=) c.7206A>T (p.Pro2402=) c.7131A>T (p.Pro2377=) n.9002A>T c.7320A>T (p.Pro2440=) c.7290A>T (p.Pro2430=) c.7242A>T (p.Pro2414=) c.7209A>T (p.Pro2403=) c.7179A>T (p.Pro2393=) c.7176A>T (p.Pro2392=) c.7128A>T (p.Pro2376=) c.7092A>T (p.Pro2364=) c.7089A>T (p.Pro2363=) c.7044A>T (p.Pro2348=) n.7709A>T | |
X | g.77508420T>C | CA517374027 | ATRX | c.7410A>G (p.Pro2470=) c.2508A>G (p.Pro836=) c.7296A>G (p.Pro2432=) c.*7038A>G (n.*7038A>G) n.5730A>G c.7407A>G (p.Pro2469=) c.7323A>G (p.Pro2441=) c.7293A>G (p.Pro2431=) c.7245A>G (p.Pro2415=) c.7206A>G (p.Pro2402=) c.7131A>G (p.Pro2377=) n.9002A>G c.7320A>G (p.Pro2440=) c.7290A>G (p.Pro2430=) c.7242A>G (p.Pro2414=) c.7209A>G (p.Pro2403=) c.7179A>G (p.Pro2393=) c.7176A>G (p.Pro2392=) c.7128A>G (p.Pro2376=) c.7092A>G (p.Pro2364=) c.7089A>G (p.Pro2363=) c.7044A>G (p.Pro2348=) n.7709A>G | gnomAD v4 |
X | g.77508420T>G | CA517374025 | ATRX | c.7410A>C (p.Pro2470=) c.2508A>C (p.Pro836=) c.7296A>C (p.Pro2432=) c.*7038A>C (n.*7038A>C) n.5730A>C c.7407A>C (p.Pro2469=) c.7323A>C (p.Pro2441=) c.7293A>C (p.Pro2431=) c.7245A>C (p.Pro2415=) c.7206A>C (p.Pro2402=) c.7131A>C (p.Pro2377=) n.9002A>C c.7320A>C (p.Pro2440=) c.7290A>C (p.Pro2430=) c.7242A>C (p.Pro2414=) c.7209A>C (p.Pro2403=) c.7179A>C (p.Pro2393=) c.7176A>C (p.Pro2392=) c.7128A>C (p.Pro2376=) c.7092A>C (p.Pro2364=) c.7089A>C (p.Pro2363=) c.7044A>C (p.Pro2348=) n.7709A>C | |
X | g.77508421G>A | CA413703827 | ATRX | c.7409C>T (p.Pro2470Leu) c.2507C>T (p.Pro836Leu) c.7295C>T (p.Pro2432Leu) c.*7037C>T (n.*7037C>T) n.5729C>T c.7406C>T (p.Pro2469Leu) c.7322C>T (p.Pro2441Leu) c.7292C>T (p.Pro2431Leu) c.7244C>T (p.Pro2415Leu) c.7205C>T (p.Pro2402Leu) c.7130C>T (p.Pro2377Leu) n.9001C>T c.7319C>T (p.Pro2440Leu) c.7289C>T (p.Pro2430Leu) c.7241C>T (p.Pro2414Leu) c.7208C>T (p.Pro2403Leu) c.7178C>T (p.Pro2393Leu) c.7175C>T (p.Pro2392Leu) c.7127C>T (p.Pro2376Leu) c.7091C>T (p.Pro2364Leu) c.7088C>T (p.Pro2363Leu) c.7043C>T (p.Pro2348Leu) n.7708C>T | dbSNP |
X | g.77508421G>C | CA413703829 | ATRX | c.7409C>G (p.Pro2470Arg) c.2507C>G (p.Pro836Arg) c.7295C>G (p.Pro2432Arg) c.*7037C>G (n.*7037C>G) n.5729C>G c.7406C>G (p.Pro2469Arg) c.7322C>G (p.Pro2441Arg) c.7292C>G (p.Pro2431Arg) c.7244C>G (p.Pro2415Arg) c.7205C>G (p.Pro2402Arg) c.7130C>G (p.Pro2377Arg) n.9001C>G c.7319C>G (p.Pro2440Arg) c.7289C>G (p.Pro2430Arg) c.7241C>G (p.Pro2414Arg) c.7208C>G (p.Pro2403Arg) c.7178C>G (p.Pro2393Arg) c.7175C>G (p.Pro2392Arg) c.7127C>G (p.Pro2376Arg) c.7091C>G (p.Pro2364Arg) c.7088C>G (p.Pro2363Arg) c.7043C>G (p.Pro2348Arg) n.7708C>G | |
X | g.77508421G>T | CA413703825 | ATRX | c.7409C>A (p.Pro2470Gln) c.2507C>A (p.Pro836Gln) c.7295C>A (p.Pro2432Gln) c.*7037C>A (n.*7037C>A) n.5729C>A c.7406C>A (p.Pro2469Gln) c.7322C>A (p.Pro2441Gln) c.7292C>A (p.Pro2431Gln) c.7244C>A (p.Pro2415Gln) c.7205C>A (p.Pro2402Gln) c.7130C>A (p.Pro2377Gln) n.9001C>A c.7319C>A (p.Pro2440Gln) c.7289C>A (p.Pro2430Gln) c.7241C>A (p.Pro2414Gln) c.7208C>A (p.Pro2403Gln) c.7178C>A (p.Pro2393Gln) c.7175C>A (p.Pro2392Gln) c.7127C>A (p.Pro2376Gln) c.7091C>A (p.Pro2364Gln) c.7088C>A (p.Pro2363Gln) c.7043C>A (p.Pro2348Gln) n.7708C>A | |
X | g.77508422del | CA2738724161 | ATRX | c.7409del (p.Pro2470HisfsTer10) c.2507del (p.Pro836HisfsTer10) c.7295del (p.Pro2432HisfsTer10) c.*7037del (n.*7037del) n.5729del c.7406del (p.Pro2469HisfsTer10) c.7322del (p.Pro2441HisfsTer10) c.7292del (p.Pro2431HisfsTer10) c.7244del (p.Pro2415HisfsTer10) c.7205del (p.Pro2402HisfsTer10) c.7130del (p.Pro2377HisfsTer10) n.9001del c.7319del (p.Pro2440HisfsTer10) c.7289del (p.Pro2430HisfsTer10) c.7241del (p.Pro2414HisfsTer10) c.7208del (p.Pro2403HisfsTer10) c.7178del (p.Pro2393HisfsTer10) c.7175del (p.Pro2392HisfsTer10) c.7127del (p.Pro2376HisfsTer10) c.7091del (p.Pro2364HisfsTer10) c.7088del (p.Pro2363HisfsTer10) c.7043del (p.Pro2348HisfsTer10) n.7708del | dbSNP |
X | g.77508422G>A | CA413703835 | ATRX | c.7408C>T (p.Pro2470Ser) c.2506C>T (p.Pro836Ser) c.7294C>T (p.Pro2432Ser) c.*7036C>T (n.*7036C>T) n.5728C>T c.7405C>T (p.Pro2469Ser) c.7321C>T (p.Pro2441Ser) c.7291C>T (p.Pro2431Ser) c.7243C>T (p.Pro2415Ser) c.7204C>T (p.Pro2402Ser) c.7129C>T (p.Pro2377Ser) n.9000C>T c.7318C>T (p.Pro2440Ser) c.7288C>T (p.Pro2430Ser) c.7240C>T (p.Pro2414Ser) c.7207C>T (p.Pro2403Ser) c.7177C>T (p.Pro2393Ser) c.7174C>T (p.Pro2392Ser) c.7126C>T (p.Pro2376Ser) c.7090C>T (p.Pro2364Ser) c.7087C>T (p.Pro2363Ser) c.7042C>T (p.Pro2348Ser) n.7707C>T | dbSNP gnomAD v4 |
X | g.77508422G>C | CA413703838 | ATRX | c.7408C>G (p.Pro2470Ala) c.2506C>G (p.Pro836Ala) c.7294C>G (p.Pro2432Ala) c.*7036C>G (n.*7036C>G) n.5728C>G c.7405C>G (p.Pro2469Ala) c.7321C>G (p.Pro2441Ala) c.7291C>G (p.Pro2431Ala) c.7243C>G (p.Pro2415Ala) c.7204C>G (p.Pro2402Ala) c.7129C>G (p.Pro2377Ala) n.9000C>G c.7318C>G (p.Pro2440Ala) c.7288C>G (p.Pro2430Ala) c.7240C>G (p.Pro2414Ala) c.7207C>G (p.Pro2403Ala) c.7177C>G (p.Pro2393Ala) c.7174C>G (p.Pro2392Ala) c.7126C>G (p.Pro2376Ala) c.7090C>G (p.Pro2364Ala) c.7087C>G (p.Pro2363Ala) c.7042C>G (p.Pro2348Ala) n.7707C>G | |
X | g.77508422G>T | CA413703840 | ATRX | c.7408C>A (p.Pro2470Thr) c.2506C>A (p.Pro836Thr) c.7294C>A (p.Pro2432Thr) c.*7036C>A (n.*7036C>A) n.5728C>A c.7405C>A (p.Pro2469Thr) c.7321C>A (p.Pro2441Thr) c.7291C>A (p.Pro2431Thr) c.7243C>A (p.Pro2415Thr) c.7204C>A (p.Pro2402Thr) c.7129C>A (p.Pro2377Thr) n.9000C>A c.7318C>A (p.Pro2440Thr) c.7288C>A (p.Pro2430Thr) c.7240C>A (p.Pro2414Thr) c.7207C>A (p.Pro2403Thr) c.7177C>A (p.Pro2393Thr) c.7174C>A (p.Pro2392Thr) c.7126C>A (p.Pro2376Thr) c.7090C>A (p.Pro2364Thr) c.7087C>A (p.Pro2363Thr) c.7042C>A (p.Pro2348Thr) n.7707C>A | |
X | g.77508423T>A | CA517374033 | ATRX | c.7407A>T (p.Pro2469=) c.2505A>T (p.Pro835=) c.7293A>T (p.Pro2431=) c.*7035A>T (n.*7035A>T) n.5727A>T c.7404A>T (p.Pro2468=) c.7320A>T (p.Pro2440=) c.7290A>T (p.Pro2430=) c.7242A>T (p.Pro2414=) c.7203A>T (p.Pro2401=) c.7128A>T (p.Pro2376=) n.8999A>T c.7317A>T (p.Pro2439=) c.7287A>T (p.Pro2429=) c.7239A>T (p.Pro2413=) c.7206A>T (p.Pro2402=) c.7176A>T (p.Pro2392=) c.7173A>T (p.Pro2391=) c.7125A>T (p.Pro2375=) c.7089A>T (p.Pro2363=) c.7086A>T (p.Pro2362=) c.7041A>T (p.Pro2347=) n.7706A>T | |
X | g.77508423T>C | CA517374032 | ATRX | c.7407A>G (p.Pro2469=) c.2505A>G (p.Pro835=) c.7293A>G (p.Pro2431=) c.*7035A>G (n.*7035A>G) n.5727A>G c.7404A>G (p.Pro2468=) c.7320A>G (p.Pro2440=) c.7290A>G (p.Pro2430=) c.7242A>G (p.Pro2414=) c.7203A>G (p.Pro2401=) c.7128A>G (p.Pro2376=) n.8999A>G c.7317A>G (p.Pro2439=) c.7287A>G (p.Pro2429=) c.7239A>G (p.Pro2413=) c.7206A>G (p.Pro2402=) c.7176A>G (p.Pro2392=) c.7173A>G (p.Pro2391=) c.7125A>G (p.Pro2375=) c.7089A>G (p.Pro2363=) c.7086A>G (p.Pro2362=) c.7041A>G (p.Pro2347=) n.7706A>G | |
X | g.77508423T>G | CA517374031 | ATRX | c.7407A>C (p.Pro2469=) c.2505A>C (p.Pro835=) c.7293A>C (p.Pro2431=) c.*7035A>C (n.*7035A>C) n.5727A>C c.7404A>C (p.Pro2468=) c.7320A>C (p.Pro2440=) c.7290A>C (p.Pro2430=) c.7242A>C (p.Pro2414=) c.7203A>C (p.Pro2401=) c.7128A>C (p.Pro2376=) n.8999A>C c.7317A>C (p.Pro2439=) c.7287A>C (p.Pro2429=) c.7239A>C (p.Pro2413=) c.7206A>C (p.Pro2402=) c.7176A>C (p.Pro2392=) c.7173A>C (p.Pro2391=) c.7125A>C (p.Pro2375=) c.7089A>C (p.Pro2363=) c.7086A>C (p.Pro2362=) c.7041A>C (p.Pro2347=) n.7706A>C | |
X | g.77508424G>A | CA413703844 | ATRX | c.7406C>T (p.Pro2469Leu) c.2504C>T (p.Pro835Leu) c.7292C>T (p.Pro2431Leu) c.*7034C>T (n.*7034C>T) n.5726C>T c.7403C>T (p.Pro2468Leu) c.7319C>T (p.Pro2440Leu) c.7289C>T (p.Pro2430Leu) c.7241C>T (p.Pro2414Leu) c.7202C>T (p.Pro2401Leu) c.7127C>T (p.Pro2376Leu) n.8998C>T c.7316C>T (p.Pro2439Leu) c.7286C>T (p.Pro2429Leu) c.7238C>T (p.Pro2413Leu) c.7205C>T (p.Pro2402Leu) c.7175C>T (p.Pro2392Leu) c.7172C>T (p.Pro2391Leu) c.7124C>T (p.Pro2375Leu) c.7088C>T (p.Pro2363Leu) c.7085C>T (p.Pro2362Leu) c.7040C>T (p.Pro2347Leu) n.7705C>T | ClinVar |
X | g.77508424G>C | CA10457380 | ATRX | c.7406C>G (p.Pro2469Arg) c.2504C>G (p.Pro835Arg) c.7292C>G (p.Pro2431Arg) c.*7034C>G (n.*7034C>G) n.5726C>G c.7403C>G (p.Pro2468Arg) c.7319C>G (p.Pro2440Arg) c.7289C>G (p.Pro2430Arg) c.7241C>G (p.Pro2414Arg) c.7202C>G (p.Pro2401Arg) c.7127C>G (p.Pro2376Arg) n.8998C>G c.7316C>G (p.Pro2439Arg) c.7286C>G (p.Pro2429Arg) c.7238C>G (p.Pro2413Arg) c.7205C>G (p.Pro2402Arg) c.7175C>G (p.Pro2392Arg) c.7172C>G (p.Pro2391Arg) c.7124C>G (p.Pro2375Arg) c.7088C>G (p.Pro2363Arg) c.7085C>G (p.Pro2362Arg) c.7040C>G (p.Pro2347Arg) n.7705C>G | dbSNP ExAC |
X | g.77508424G= | CA2438929033 | ATRX | c.7406C= (p.Pro2469=) c.2504C= (p.Pro835=) c.7292C= (p.Pro2431=) c.*7034C= (n.*7034C=) n.5726C= c.7403C= (p.Pro2468=) c.7319C= (p.Pro2440=) c.7289C= (p.Pro2430=) c.7241C= (p.Pro2414=) c.7202C= (p.Pro2401=) c.7127C= (p.Pro2376=) n.8998C= c.7316C= (p.Pro2439=) c.7286C= (p.Pro2429=) c.7238C= (p.Pro2413=) c.7205C= (p.Pro2402=) c.7175C= (p.Pro2392=) c.7172C= (p.Pro2391=) c.7124C= (p.Pro2375=) c.7088C= (p.Pro2363=) c.7085C= (p.Pro2362=) c.7040C= (p.Pro2347=) n.7705C= | |
X | g.77508424G>T | CA413703847 | ATRX | c.7406C>A (p.Pro2469Gln) c.2504C>A (p.Pro835Gln) c.7292C>A (p.Pro2431Gln) c.*7034C>A (n.*7034C>A) n.5726C>A c.7403C>A (p.Pro2468Gln) c.7319C>A (p.Pro2440Gln) c.7289C>A (p.Pro2430Gln) c.7241C>A (p.Pro2414Gln) c.7202C>A (p.Pro2401Gln) c.7127C>A (p.Pro2376Gln) n.8998C>A c.7316C>A (p.Pro2439Gln) c.7286C>A (p.Pro2429Gln) c.7238C>A (p.Pro2413Gln) c.7205C>A (p.Pro2402Gln) c.7175C>A (p.Pro2392Gln) c.7172C>A (p.Pro2391Gln) c.7124C>A (p.Pro2375Gln) c.7088C>A (p.Pro2363Gln) c.7085C>A (p.Pro2362Gln) c.7040C>A (p.Pro2347Gln) n.7705C>A | |
X | g.77508425G>A | CA413703849 | ATRX | c.7405C>T (p.Pro2469Ser) c.2503C>T (p.Pro835Ser) c.7291C>T (p.Pro2431Ser) c.*7033C>T (n.*7033C>T) n.5725C>T c.7402C>T (p.Pro2468Ser) c.7318C>T (p.Pro2440Ser) c.7288C>T (p.Pro2430Ser) c.7240C>T (p.Pro2414Ser) c.7201C>T (p.Pro2401Ser) c.7126C>T (p.Pro2376Ser) n.8997C>T c.7315C>T (p.Pro2439Ser) c.7285C>T (p.Pro2429Ser) c.7237C>T (p.Pro2413Ser) c.7204C>T (p.Pro2402Ser) c.7174C>T (p.Pro2392Ser) c.7171C>T (p.Pro2391Ser) c.7123C>T (p.Pro2375Ser) c.7087C>T (p.Pro2363Ser) c.7084C>T (p.Pro2362Ser) c.7039C>T (p.Pro2347Ser) n.7704C>T | dbSNP |
X | g.77508425G>C | CA413703853 | ATRX | c.7405C>G (p.Pro2469Ala) c.2503C>G (p.Pro835Ala) c.7291C>G (p.Pro2431Ala) c.*7033C>G (n.*7033C>G) n.5725C>G c.7402C>G (p.Pro2468Ala) c.7318C>G (p.Pro2440Ala) c.7288C>G (p.Pro2430Ala) c.7240C>G (p.Pro2414Ala) c.7201C>G (p.Pro2401Ala) c.7126C>G (p.Pro2376Ala) n.8997C>G c.7315C>G (p.Pro2439Ala) c.7285C>G (p.Pro2429Ala) c.7237C>G (p.Pro2413Ala) c.7204C>G (p.Pro2402Ala) c.7174C>G (p.Pro2392Ala) c.7171C>G (p.Pro2391Ala) c.7123C>G (p.Pro2375Ala) c.7087C>G (p.Pro2363Ala) c.7084C>G (p.Pro2362Ala) c.7039C>G (p.Pro2347Ala) n.7704C>G | |
X | g.77508425G>T | CA413703851 | ATRX | c.7405C>A (p.Pro2469Thr) c.2503C>A (p.Pro835Thr) c.7291C>A (p.Pro2431Thr) c.*7033C>A (n.*7033C>A) n.5725C>A c.7402C>A (p.Pro2468Thr) c.7318C>A (p.Pro2440Thr) c.7288C>A (p.Pro2430Thr) c.7240C>A (p.Pro2414Thr) c.7201C>A (p.Pro2401Thr) c.7126C>A (p.Pro2376Thr) n.8997C>A c.7315C>A (p.Pro2439Thr) c.7285C>A (p.Pro2429Thr) c.7237C>A (p.Pro2413Thr) c.7204C>A (p.Pro2402Thr) c.7174C>A (p.Pro2392Thr) c.7171C>A (p.Pro2391Thr) c.7123C>A (p.Pro2375Thr) c.7087C>A (p.Pro2363Thr) c.7084C>A (p.Pro2362Thr) c.7039C>A (p.Pro2347Thr) n.7704C>A | dbSNP |
X | g.77508426C>A | CA413703856 | ATRX | c.7404G>T (p.Gln2468His) c.2502G>T (p.Gln834His) c.7290G>T (p.Gln2430His) c.*7032G>T (n.*7032G>T) n.5724G>T c.7401G>T (p.Gln2467His) c.7317G>T (p.Gln2439His) c.7287G>T (p.Gln2429His) c.7239G>T (p.Gln2413His) c.7200G>T (p.Gln2400His) c.7125G>T (p.Gln2375His) n.8996G>T c.7314G>T (p.Gln2438His) c.7284G>T (p.Gln2428His) c.7236G>T (p.Gln2412His) c.7203G>T (p.Gln2401His) c.7173G>T (p.Gln2391His) c.7170G>T (p.Gln2390His) c.7122G>T (p.Gln2374His) c.7086G>T (p.Gln2362His) c.7083G>T (p.Gln2361His) c.7038G>T (p.Gln2346His) n.7703G>T | dbSNP |
X | g.77508426C>G | CA413703860 | ATRX | c.7404G>C (p.Gln2468His) c.2502G>C (p.Gln834His) c.7290G>C (p.Gln2430His) c.*7032G>C (n.*7032G>C) n.5724G>C c.7401G>C (p.Gln2467His) c.7317G>C (p.Gln2439His) c.7287G>C (p.Gln2429His) c.7239G>C (p.Gln2413His) c.7200G>C (p.Gln2400His) c.7125G>C (p.Gln2375His) n.8996G>C c.7314G>C (p.Gln2438His) c.7284G>C (p.Gln2428His) c.7236G>C (p.Gln2412His) c.7203G>C (p.Gln2401His) c.7173G>C (p.Gln2391His) c.7170G>C (p.Gln2390His) c.7122G>C (p.Gln2374His) c.7086G>C (p.Gln2362His) c.7083G>C (p.Gln2361His) c.7038G>C (p.Gln2346His) n.7703G>C | dbSNP |
X | g.77508426C>T | CA517374035 | ATRX | c.7404G>A (p.Gln2468=) c.2502G>A (p.Gln834=) c.7290G>A (p.Gln2430=) c.*7032G>A (n.*7032G>A) n.5724G>A c.7401G>A (p.Gln2467=) c.7317G>A (p.Gln2439=) c.7287G>A (p.Gln2429=) c.7239G>A (p.Gln2413=) c.7200G>A (p.Gln2400=) c.7125G>A (p.Gln2375=) n.8996G>A c.7314G>A (p.Gln2438=) c.7284G>A (p.Gln2428=) c.7236G>A (p.Gln2412=) c.7203G>A (p.Gln2401=) c.7173G>A (p.Gln2391=) c.7170G>A (p.Gln2390=) c.7122G>A (p.Gln2374=) c.7086G>A (p.Gln2362=) c.7083G>A (p.Gln2361=) c.7038G>A (p.Gln2346=) n.7703G>A | dbSNP |
X | g.77508427T>A | CA413703864 | ATRX | c.7403A>T (p.Gln2468Leu) c.2501A>T (p.Gln834Leu) c.7289A>T (p.Gln2430Leu) c.*7031A>T (n.*7031A>T) n.5723A>T c.7400A>T (p.Gln2467Leu) c.7316A>T (p.Gln2439Leu) c.7286A>T (p.Gln2429Leu) c.7238A>T (p.Gln2413Leu) c.7199A>T (p.Gln2400Leu) c.7124A>T (p.Gln2375Leu) n.8995A>T c.7313A>T (p.Gln2438Leu) c.7283A>T (p.Gln2428Leu) c.7235A>T (p.Gln2412Leu) c.7202A>T (p.Gln2401Leu) c.7172A>T (p.Gln2391Leu) c.7169A>T (p.Gln2390Leu) c.7121A>T (p.Gln2374Leu) c.7085A>T (p.Gln2362Leu) c.7082A>T (p.Gln2361Leu) c.7037A>T (p.Gln2346Leu) n.7702A>T | |
X | g.77508427T>C | CA413703870 | ATRX | c.7403A>G (p.Gln2468Arg) c.2501A>G (p.Gln834Arg) c.7289A>G (p.Gln2430Arg) c.*7031A>G (n.*7031A>G) n.5723A>G c.7400A>G (p.Gln2467Arg) c.7316A>G (p.Gln2439Arg) c.7286A>G (p.Gln2429Arg) c.7238A>G (p.Gln2413Arg) c.7199A>G (p.Gln2400Arg) c.7124A>G (p.Gln2375Arg) n.8995A>G c.7313A>G (p.Gln2438Arg) c.7283A>G (p.Gln2428Arg) c.7235A>G (p.Gln2412Arg) c.7202A>G (p.Gln2401Arg) c.7172A>G (p.Gln2391Arg) c.7169A>G (p.Gln2390Arg) c.7121A>G (p.Gln2374Arg) c.7085A>G (p.Gln2362Arg) c.7082A>G (p.Gln2361Arg) c.7037A>G (p.Gln2346Arg) n.7702A>G | dbSNP |
X | g.77508427T>G | CA413703874 | ATRX | c.7403A>C (p.Gln2468Pro) c.2501A>C (p.Gln834Pro) c.7289A>C (p.Gln2430Pro) c.*7031A>C (n.*7031A>C) n.5723A>C c.7400A>C (p.Gln2467Pro) c.7316A>C (p.Gln2439Pro) c.7286A>C (p.Gln2429Pro) c.7238A>C (p.Gln2413Pro) c.7199A>C (p.Gln2400Pro) c.7124A>C (p.Gln2375Pro) n.8995A>C c.7313A>C (p.Gln2438Pro) c.7283A>C (p.Gln2428Pro) c.7235A>C (p.Gln2412Pro) c.7202A>C (p.Gln2401Pro) c.7172A>C (p.Gln2391Pro) c.7169A>C (p.Gln2390Pro) c.7121A>C (p.Gln2374Pro) c.7085A>C (p.Gln2362Pro) c.7082A>C (p.Gln2361Pro) c.7037A>C (p.Gln2346Pro) n.7702A>C | |
X | g.77508428G>A | CA413703886 | ATRX | c.7402C>T (p.Gln2468Ter) c.2500C>T (p.Gln834Ter) c.7288C>T (p.Gln2430Ter) c.*7030C>T (n.*7030C>T) n.5722C>T c.7399C>T (p.Gln2467Ter) c.7315C>T (p.Gln2439Ter) c.7285C>T (p.Gln2429Ter) c.7237C>T (p.Gln2413Ter) c.7198C>T (p.Gln2400Ter) c.7123C>T (p.Gln2375Ter) n.8994C>T c.7312C>T (p.Gln2438Ter) c.7282C>T (p.Gln2428Ter) c.7234C>T (p.Gln2412Ter) c.7201C>T (p.Gln2401Ter) c.7171C>T (p.Gln2391Ter) c.7168C>T (p.Gln2390Ter) c.7120C>T (p.Gln2374Ter) c.7084C>T (p.Gln2362Ter) c.7081C>T (p.Gln2361Ter) c.7036C>T (p.Gln2346Ter) n.7701C>T | dbSNP |
X | g.77508428G>C | CA10457381 | ATRX | c.7402C>G (p.Gln2468Glu) c.2500C>G (p.Gln834Glu) c.7288C>G (p.Gln2430Glu) c.*7030C>G (n.*7030C>G) n.5722C>G c.7399C>G (p.Gln2467Glu) c.7315C>G (p.Gln2439Glu) c.7285C>G (p.Gln2429Glu) c.7237C>G (p.Gln2413Glu) c.7198C>G (p.Gln2400Glu) c.7123C>G (p.Gln2375Glu) n.8994C>G c.7312C>G (p.Gln2438Glu) c.7282C>G (p.Gln2428Glu) c.7234C>G (p.Gln2412Glu) c.7201C>G (p.Gln2401Glu) c.7171C>G (p.Gln2391Glu) c.7168C>G (p.Gln2390Glu) c.7120C>G (p.Gln2374Glu) c.7084C>G (p.Gln2362Glu) c.7081C>G (p.Gln2361Glu) c.7036C>G (p.Gln2346Glu) n.7701C>G | dbSNP ExAC |
X | g.77508428G= | CA2438929034 | ATRX | c.7402C= (p.Gln2468=) c.2500C= (p.Gln834=) c.7288C= (p.Gln2430=) c.*7030C= (n.*7030C=) n.5722C= c.7399C= (p.Gln2467=) c.7315C= (p.Gln2439=) c.7285C= (p.Gln2429=) c.7237C= (p.Gln2413=) c.7198C= (p.Gln2400=) c.7123C= (p.Gln2375=) n.8994C= c.7312C= (p.Gln2438=) c.7282C= (p.Gln2428=) c.7234C= (p.Gln2412=) c.7201C= (p.Gln2401=) c.7171C= (p.Gln2391=) c.7168C= (p.Gln2390=) c.7120C= (p.Gln2374=) c.7084C= (p.Gln2362=) c.7081C= (p.Gln2361=) c.7036C= (p.Gln2346=) n.7701C= | |
X | g.77508428G>T | CA10457382 | ATRX | c.7402C>A (p.Gln2468Lys) c.2500C>A (p.Gln834Lys) c.7288C>A (p.Gln2430Lys) c.*7030C>A (n.*7030C>A) n.5722C>A c.7399C>A (p.Gln2467Lys) c.7315C>A (p.Gln2439Lys) c.7285C>A (p.Gln2429Lys) c.7237C>A (p.Gln2413Lys) c.7198C>A (p.Gln2400Lys) c.7123C>A (p.Gln2375Lys) n.8994C>A c.7312C>A (p.Gln2438Lys) c.7282C>A (p.Gln2428Lys) c.7234C>A (p.Gln2412Lys) c.7201C>A (p.Gln2401Lys) c.7171C>A (p.Gln2391Lys) c.7168C>A (p.Gln2390Lys) c.7120C>A (p.Gln2374Lys) c.7084C>A (p.Gln2362Lys) c.7081C>A (p.Gln2361Lys) c.7036C>A (p.Gln2346Lys) n.7701C>A | dbSNP ExAC |
X | g.77508429C>A | CA413703889 | ATRX | c.7401G>T (p.Met2467Ile) c.2499G>T (p.Met833Ile) c.7287G>T (p.Met2429Ile) c.*7029G>T (n.*7029G>T) n.5721G>T c.7398G>T (p.Met2466Ile) c.7314G>T (p.Met2438Ile) c.7284G>T (p.Met2428Ile) c.7236G>T (p.Met2412Ile) c.7197G>T (p.Met2399Ile) c.7122G>T (p.Met2374Ile) n.8993G>T c.7311G>T (p.Met2437Ile) c.7281G>T (p.Met2427Ile) c.7233G>T (p.Met2411Ile) c.7200G>T (p.Met2400Ile) c.7170G>T (p.Met2390Ile) c.7167G>T (p.Met2389Ile) c.7119G>T (p.Met2373Ile) c.7083G>T (p.Met2361Ile) c.7080G>T (p.Met2360Ile) c.7035G>T (p.Met2345Ile) n.7700G>T | |
X | g.77508429C= | CA2438929035 | ATRX | c.7401G= (p.Met2467=) c.2499G= (p.Met833=) c.7287G= (p.Met2429=) c.*7029G= (n.*7029G=) n.5721G= c.7398G= (p.Met2466=) c.7314G= (p.Met2438=) c.7284G= (p.Met2428=) c.7236G= (p.Met2412=) c.7197G= (p.Met2399=) c.7122G= (p.Met2374=) n.8993G= c.7311G= (p.Met2437=) c.7281G= (p.Met2427=) c.7233G= (p.Met2411=) c.7200G= (p.Met2400=) c.7170G= (p.Met2390=) c.7167G= (p.Met2389=) c.7119G= (p.Met2373=) c.7083G= (p.Met2361=) c.7080G= (p.Met2360=) c.7035G= (p.Met2345=) n.7700G= | |
X | g.77508429C>G | CA413703890 | ATRX | c.7401G>C (p.Met2467Ile) c.2499G>C (p.Met833Ile) c.7287G>C (p.Met2429Ile) c.*7029G>C (n.*7029G>C) n.5721G>C c.7398G>C (p.Met2466Ile) c.7314G>C (p.Met2438Ile) c.7284G>C (p.Met2428Ile) c.7236G>C (p.Met2412Ile) c.7197G>C (p.Met2399Ile) c.7122G>C (p.Met2374Ile) n.8993G>C c.7311G>C (p.Met2437Ile) c.7281G>C (p.Met2427Ile) c.7233G>C (p.Met2411Ile) c.7200G>C (p.Met2400Ile) c.7170G>C (p.Met2390Ile) c.7167G>C (p.Met2389Ile) c.7119G>C (p.Met2373Ile) c.7083G>C (p.Met2361Ile) c.7080G>C (p.Met2360Ile) c.7035G>C (p.Met2345Ile) n.7700G>C | dbSNP |
X | g.77508429C>T | CA10457383 | ATRX | c.7401G>A (p.Met2467Ile) c.2499G>A (p.Met833Ile) c.7287G>A (p.Met2429Ile) c.*7029G>A (n.*7029G>A) n.5721G>A c.7398G>A (p.Met2466Ile) c.7314G>A (p.Met2438Ile) c.7284G>A (p.Met2428Ile) c.7236G>A (p.Met2412Ile) c.7197G>A (p.Met2399Ile) c.7122G>A (p.Met2374Ile) n.8993G>A c.7311G>A (p.Met2437Ile) c.7281G>A (p.Met2427Ile) c.7233G>A (p.Met2411Ile) c.7200G>A (p.Met2400Ile) c.7170G>A (p.Met2390Ile) c.7167G>A (p.Met2389Ile) c.7119G>A (p.Met2373Ile) c.7083G>A (p.Met2361Ile) c.7080G>A (p.Met2360Ile) c.7035G>A (p.Met2345Ile) n.7700G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.77508430del | CA2579648638 | ATRX | c.7400del (p.Met2467SerfsTer13) c.2498del (p.Met833SerfsTer13) c.7286del (p.Met2429SerfsTer13) c.*7028del (n.*7028del) n.5720del c.7397del (p.Met2466SerfsTer13) c.7313del (p.Met2438SerfsTer13) c.7283del (p.Met2428SerfsTer13) c.7235del (p.Met2412SerfsTer13) c.7196del (p.Met2399SerfsTer13) c.7121del (p.Met2374SerfsTer13) n.8992del c.7310del (p.Met2437SerfsTer13) c.7280del (p.Met2427SerfsTer13) c.7232del (p.Met2411SerfsTer13) c.7199del (p.Met2400SerfsTer13) c.7169del (p.Met2390SerfsTer13) c.7166del (p.Met2389SerfsTer13) c.7118del (p.Met2373SerfsTer13) c.7082del (p.Met2361SerfsTer13) c.7079del (p.Met2360SerfsTer13) c.7034del (p.Met2345SerfsTer13) n.7699del | |
X | g.77508430A= | CA2438929036 | ATRX | c.7400T= (p.Met2467=) c.2498T= (p.Met833=) c.7286T= (p.Met2429=) c.*7028T= (n.*7028T=) n.5720T= c.7397T= (p.Met2466=) c.7313T= (p.Met2438=) c.7283T= (p.Met2428=) c.7235T= (p.Met2412=) c.7196T= (p.Met2399=) c.7121T= (p.Met2374=) n.8992T= c.7310T= (p.Met2437=) c.7280T= (p.Met2427=) c.7232T= (p.Met2411=) c.7199T= (p.Met2400=) c.7169T= (p.Met2390=) c.7166T= (p.Met2389=) c.7118T= (p.Met2373=) c.7082T= (p.Met2361=) c.7079T= (p.Met2360=) c.7034T= (p.Met2345=) n.7699T= | |
X | g.77508430A>C | CA10457386 | ATRX | c.7400T>G (p.Met2467Arg) c.2498T>G (p.Met833Arg) c.7286T>G (p.Met2429Arg) c.*7028T>G (n.*7028T>G) n.5720T>G c.7397T>G (p.Met2466Arg) c.7313T>G (p.Met2438Arg) c.7283T>G (p.Met2428Arg) c.7235T>G (p.Met2412Arg) c.7196T>G (p.Met2399Arg) c.7121T>G (p.Met2374Arg) n.8992T>G c.7310T>G (p.Met2437Arg) c.7280T>G (p.Met2427Arg) c.7232T>G (p.Met2411Arg) c.7199T>G (p.Met2400Arg) c.7169T>G (p.Met2390Arg) c.7166T>G (p.Met2389Arg) c.7118T>G (p.Met2373Arg) c.7082T>G (p.Met2361Arg) c.7079T>G (p.Met2360Arg) c.7034T>G (p.Met2345Arg) n.7699T>G | dbSNP ExAC gnomAD v4 |
X | g.77508430A>G | CA10457384 | ATRX | c.7400T>C (p.Met2467Thr) c.2498T>C (p.Met833Thr) c.7286T>C (p.Met2429Thr) c.*7028T>C (n.*7028T>C) n.5720T>C c.7397T>C (p.Met2466Thr) c.7313T>C (p.Met2438Thr) c.7283T>C (p.Met2428Thr) c.7235T>C (p.Met2412Thr) c.7196T>C (p.Met2399Thr) c.7121T>C (p.Met2374Thr) n.8992T>C c.7310T>C (p.Met2437Thr) c.7280T>C (p.Met2427Thr) c.7232T>C (p.Met2411Thr) c.7199T>C (p.Met2400Thr) c.7169T>C (p.Met2390Thr) c.7166T>C (p.Met2389Thr) c.7118T>C (p.Met2373Thr) c.7082T>C (p.Met2361Thr) c.7079T>C (p.Met2360Thr) c.7034T>C (p.Met2345Thr) n.7699T>C | ClinVar dbSNP ExAC gnomAD v2 |
X | g.77508430A>T | CA10457385 | ATRX | c.7400T>A (p.Met2467Lys) c.2498T>A (p.Met833Lys) c.7286T>A (p.Met2429Lys) c.*7028T>A (n.*7028T>A) n.5720T>A c.7397T>A (p.Met2466Lys) c.7313T>A (p.Met2438Lys) c.7283T>A (p.Met2428Lys) c.7235T>A (p.Met2412Lys) c.7196T>A (p.Met2399Lys) c.7121T>A (p.Met2374Lys) n.8992T>A c.7310T>A (p.Met2437Lys) c.7280T>A (p.Met2427Lys) c.7232T>A (p.Met2411Lys) c.7199T>A (p.Met2400Lys) c.7169T>A (p.Met2390Lys) c.7166T>A (p.Met2389Lys) c.7118T>A (p.Met2373Lys) c.7082T>A (p.Met2361Lys) c.7079T>A (p.Met2360Lys) c.7034T>A (p.Met2345Lys) n.7699T>A | dbSNP ExAC |
X | g.77508431T>A | CA10457387 | ATRX | c.7399A>T (p.Met2467Leu) c.2497A>T (p.Met833Leu) c.7285A>T (p.Met2429Leu) c.*7027A>T (n.*7027A>T) n.5719A>T c.7396A>T (p.Met2466Leu) c.7312A>T (p.Met2438Leu) c.7282A>T (p.Met2428Leu) c.7234A>T (p.Met2412Leu) c.7195A>T (p.Met2399Leu) c.7120A>T (p.Met2374Leu) n.8991A>T c.7309A>T (p.Met2437Leu) c.7279A>T (p.Met2427Leu) c.7231A>T (p.Met2411Leu) c.7198A>T (p.Met2400Leu) c.7168A>T (p.Met2390Leu) c.7165A>T (p.Met2389Leu) c.7117A>T (p.Met2373Leu) c.7081A>T (p.Met2361Leu) c.7078A>T (p.Met2360Leu) c.7033A>T (p.Met2345Leu) n.7698A>T | dbSNP ExAC |
X | g.77508431T>C | CA413703903 | ATRX | c.7399A>G (p.Met2467Val) c.2497A>G (p.Met833Val) c.7285A>G (p.Met2429Val) c.*7027A>G (n.*7027A>G) n.5719A>G c.7396A>G (p.Met2466Val) c.7312A>G (p.Met2438Val) c.7282A>G (p.Met2428Val) c.7234A>G (p.Met2412Val) c.7195A>G (p.Met2399Val) c.7120A>G (p.Met2374Val) n.8991A>G c.7309A>G (p.Met2437Val) c.7279A>G (p.Met2427Val) c.7231A>G (p.Met2411Val) c.7198A>G (p.Met2400Val) c.7168A>G (p.Met2390Val) c.7165A>G (p.Met2389Val) c.7117A>G (p.Met2373Val) c.7081A>G (p.Met2361Val) c.7078A>G (p.Met2360Val) c.7033A>G (p.Met2345Val) n.7698A>G | |
X | g.77508431T>G | CA413703906 | ATRX | c.7399A>C (p.Met2467Leu) c.2497A>C (p.Met833Leu) c.7285A>C (p.Met2429Leu) c.*7027A>C (n.*7027A>C) n.5719A>C c.7396A>C (p.Met2466Leu) c.7312A>C (p.Met2438Leu) c.7282A>C (p.Met2428Leu) c.7234A>C (p.Met2412Leu) c.7195A>C (p.Met2399Leu) c.7120A>C (p.Met2374Leu) n.8991A>C c.7309A>C (p.Met2437Leu) c.7279A>C (p.Met2427Leu) c.7231A>C (p.Met2411Leu) c.7198A>C (p.Met2400Leu) c.7168A>C (p.Met2390Leu) c.7165A>C (p.Met2389Leu) c.7117A>C (p.Met2373Leu) c.7081A>C (p.Met2361Leu) c.7078A>C (p.Met2360Leu) c.7033A>C (p.Met2345Leu) n.7698A>C | |
X | g.77508431T= | CA2438929037 | ATRX | c.7399A= (p.Met2467=) c.2497A= (p.Met833=) c.7285A= (p.Met2429=) c.*7027A= (n.*7027A=) n.5719A= c.7396A= (p.Met2466=) c.7312A= (p.Met2438=) c.7282A= (p.Met2428=) c.7234A= (p.Met2412=) c.7195A= (p.Met2399=) c.7120A= (p.Met2374=) n.8991A= c.7309A= (p.Met2437=) c.7279A= (p.Met2427=) c.7231A= (p.Met2411=) c.7198A= (p.Met2400=) c.7168A= (p.Met2390=) c.7165A= (p.Met2389=) c.7117A= (p.Met2373=) c.7081A= (p.Met2361=) c.7078A= (p.Met2360=) c.7033A= (p.Met2345=) n.7698A= | |
X | g.77508432A= | CA2438929038 | ATRX | c.7398T= (p.Gly2466=) c.2496T= (p.Gly832=) c.7284T= (p.Gly2428=) c.*7026T= (n.*7026T=) n.5718T= c.7395T= (p.Gly2465=) c.7311T= (p.Gly2437=) c.7281T= (p.Gly2427=) c.7233T= (p.Gly2411=) c.7194T= (p.Gly2398=) c.7119T= (p.Gly2373=) n.8990T= c.7308T= (p.Gly2436=) c.7278T= (p.Gly2426=) c.7230T= (p.Gly2410=) c.7197T= (p.Gly2399=) c.7167T= (p.Gly2389=) c.7164T= (p.Gly2388=) c.7116T= (p.Gly2372=) c.7080T= (p.Gly2360=) c.7077T= (p.Gly2359=) c.7032T= (p.Gly2344=) n.7697T= | |
X | g.77508432A>C | CA10457388 | ATRX | c.7398T>G (p.Gly2466=) c.2496T>G (p.Gly832=) c.7284T>G (p.Gly2428=) c.*7026T>G (n.*7026T>G) n.5718T>G c.7395T>G (p.Gly2465=) c.7311T>G (p.Gly2437=) c.7281T>G (p.Gly2427=) c.7233T>G (p.Gly2411=) c.7194T>G (p.Gly2398=) c.7119T>G (p.Gly2373=) n.8990T>G c.7308T>G (p.Gly2436=) c.7278T>G (p.Gly2426=) c.7230T>G (p.Gly2410=) c.7197T>G (p.Gly2399=) c.7167T>G (p.Gly2389=) c.7164T>G (p.Gly2388=) c.7116T>G (p.Gly2372=) c.7080T>G (p.Gly2360=) c.7077T>G (p.Gly2359=) c.7032T>G (p.Gly2344=) n.7697T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.77508432A>G | CA517374039 | ATRX | c.7398T>C (p.Gly2466=) c.2496T>C (p.Gly832=) c.7284T>C (p.Gly2428=) c.*7026T>C (n.*7026T>C) n.5718T>C c.7395T>C (p.Gly2465=) c.7311T>C (p.Gly2437=) c.7281T>C (p.Gly2427=) c.7233T>C (p.Gly2411=) c.7194T>C (p.Gly2398=) c.7119T>C (p.Gly2373=) n.8990T>C c.7308T>C (p.Gly2436=) c.7278T>C (p.Gly2426=) c.7230T>C (p.Gly2410=) c.7197T>C (p.Gly2399=) c.7167T>C (p.Gly2389=) c.7164T>C (p.Gly2388=) c.7116T>C (p.Gly2372=) c.7080T>C (p.Gly2360=) c.7077T>C (p.Gly2359=) c.7032T>C (p.Gly2344=) n.7697T>C | dbSNP |
X | g.77508432A>T | CA517374040 | ATRX | c.7398T>A (p.Gly2466=) c.2496T>A (p.Gly832=) c.7284T>A (p.Gly2428=) c.*7026T>A (n.*7026T>A) n.5718T>A c.7395T>A (p.Gly2465=) c.7311T>A (p.Gly2437=) c.7281T>A (p.Gly2427=) c.7233T>A (p.Gly2411=) c.7194T>A (p.Gly2398=) c.7119T>A (p.Gly2373=) n.8990T>A c.7308T>A (p.Gly2436=) c.7278T>A (p.Gly2426=) c.7230T>A (p.Gly2410=) c.7197T>A (p.Gly2399=) c.7167T>A (p.Gly2389=) c.7164T>A (p.Gly2388=) c.7116T>A (p.Gly2372=) c.7080T>A (p.Gly2360=) c.7077T>A (p.Gly2359=) c.7032T>A (p.Gly2344=) n.7697T>A | dbSNP |
X | g.77508433C>A | CA413703914 | ATRX | c.7397G>T (p.Gly2466Val) c.2495G>T (p.Gly832Val) c.7283G>T (p.Gly2428Val) c.*7025G>T (n.*7025G>T) n.5717G>T c.7394G>T (p.Gly2465Val) c.7310G>T (p.Gly2437Val) c.7280G>T (p.Gly2427Val) c.7232G>T (p.Gly2411Val) c.7193G>T (p.Gly2398Val) c.7118G>T (p.Gly2373Val) n.8989G>T c.7307G>T (p.Gly2436Val) c.7277G>T (p.Gly2426Val) c.7229G>T (p.Gly2410Val) c.7196G>T (p.Gly2399Val) c.7166G>T (p.Gly2389Val) c.7163G>T (p.Gly2388Val) c.7115G>T (p.Gly2372Val) c.7079G>T (p.Gly2360Val) c.7076G>T (p.Gly2359Val) c.7031G>T (p.Gly2344Val) n.7696G>T | dbSNP |
X | g.77508433C= | CA2438929039 | ATRX | c.7397G= (p.Gly2466=) c.2495G= (p.Gly832=) c.7283G= (p.Gly2428=) c.*7025G= (n.*7025G=) n.5717G= c.7394G= (p.Gly2465=) c.7310G= (p.Gly2437=) c.7280G= (p.Gly2427=) c.7232G= (p.Gly2411=) c.7193G= (p.Gly2398=) c.7118G= (p.Gly2373=) n.8989G= c.7307G= (p.Gly2436=) c.7277G= (p.Gly2426=) c.7229G= (p.Gly2410=) c.7196G= (p.Gly2399=) c.7166G= (p.Gly2389=) c.7163G= (p.Gly2388=) c.7115G= (p.Gly2372=) c.7079G= (p.Gly2360=) c.7076G= (p.Gly2359=) c.7031G= (p.Gly2344=) n.7696G= | |
X | g.77508433C>G | CA413703916 | ATRX | c.7397G>C (p.Gly2466Ala) c.2495G>C (p.Gly832Ala) c.7283G>C (p.Gly2428Ala) c.*7025G>C (n.*7025G>C) n.5717G>C c.7394G>C (p.Gly2465Ala) c.7310G>C (p.Gly2437Ala) c.7280G>C (p.Gly2427Ala) c.7232G>C (p.Gly2411Ala) c.7193G>C (p.Gly2398Ala) c.7118G>C (p.Gly2373Ala) n.8989G>C c.7307G>C (p.Gly2436Ala) c.7277G>C (p.Gly2426Ala) c.7229G>C (p.Gly2410Ala) c.7196G>C (p.Gly2399Ala) c.7166G>C (p.Gly2389Ala) c.7163G>C (p.Gly2388Ala) c.7115G>C (p.Gly2372Ala) c.7079G>C (p.Gly2360Ala) c.7076G>C (p.Gly2359Ala) c.7031G>C (p.Gly2344Ala) n.7696G>C | dbSNP |
X | g.77508433C>T | CA413703925 | ATRX | c.7397G>A (p.Gly2466Asp) c.2495G>A (p.Gly832Asp) c.7283G>A (p.Gly2428Asp) c.*7025G>A (n.*7025G>A) n.5717G>A c.7394G>A (p.Gly2465Asp) c.7310G>A (p.Gly2437Asp) c.7280G>A (p.Gly2427Asp) c.7232G>A (p.Gly2411Asp) c.7193G>A (p.Gly2398Asp) c.7118G>A (p.Gly2373Asp) n.8989G>A c.7307G>A (p.Gly2436Asp) c.7277G>A (p.Gly2426Asp) c.7229G>A (p.Gly2410Asp) c.7196G>A (p.Gly2399Asp) c.7166G>A (p.Gly2389Asp) c.7163G>A (p.Gly2388Asp) c.7115G>A (p.Gly2372Asp) c.7079G>A (p.Gly2360Asp) c.7076G>A (p.Gly2359Asp) c.7031G>A (p.Gly2344Asp) n.7696G>A | gnomAD v4 |
X | g.77508434C>A | CA331560034 | ATRX | c.7396G>T (p.Gly2466Cys) c.2494G>T (p.Gly832Cys) c.7282G>T (p.Gly2428Cys) c.*7024G>T (n.*7024G>T) n.5716G>T c.7393G>T (p.Gly2465Cys) c.7309G>T (p.Gly2437Cys) c.7279G>T (p.Gly2427Cys) c.7231G>T (p.Gly2411Cys) c.7192G>T (p.Gly2398Cys) c.7117G>T (p.Gly2373Cys) n.8988G>T c.7306G>T (p.Gly2436Cys) c.7276G>T (p.Gly2426Cys) c.7228G>T (p.Gly2410Cys) c.7195G>T (p.Gly2399Cys) c.7165G>T (p.Gly2389Cys) c.7162G>T (p.Gly2388Cys) c.7114G>T (p.Gly2372Cys) c.7078G>T (p.Gly2360Cys) c.7075G>T (p.Gly2359Cys) c.7030G>T (p.Gly2344Cys) n.7695G>T | ClinVar dbSNP |
X | g.77508434C= | CA2438929040 | ATRX | c.7396G= (p.Gly2466=) c.2494G= (p.Gly832=) c.7282G= (p.Gly2428=) c.*7024G= (n.*7024G=) n.5716G= c.7393G= (p.Gly2465=) c.7309G= (p.Gly2437=) c.7279G= (p.Gly2427=) c.7231G= (p.Gly2411=) c.7192G= (p.Gly2398=) c.7117G= (p.Gly2373=) n.8988G= c.7306G= (p.Gly2436=) c.7276G= (p.Gly2426=) c.7228G= (p.Gly2410=) c.7195G= (p.Gly2399=) c.7165G= (p.Gly2389=) c.7162G= (p.Gly2388=) c.7114G= (p.Gly2372=) c.7078G= (p.Gly2360=) c.7075G= (p.Gly2359=) c.7030G= (p.Gly2344=) n.7695G= | |
X | g.77508434C>G | CA413703933 | ATRX | c.7396G>C (p.Gly2466Arg) c.2494G>C (p.Gly832Arg) c.7282G>C (p.Gly2428Arg) c.*7024G>C (n.*7024G>C) n.5716G>C c.7393G>C (p.Gly2465Arg) c.7309G>C (p.Gly2437Arg) c.7279G>C (p.Gly2427Arg) c.7231G>C (p.Gly2411Arg) c.7192G>C (p.Gly2398Arg) c.7117G>C (p.Gly2373Arg) n.8988G>C c.7306G>C (p.Gly2436Arg) c.7276G>C (p.Gly2426Arg) c.7228G>C (p.Gly2410Arg) c.7195G>C (p.Gly2399Arg) c.7165G>C (p.Gly2389Arg) c.7162G>C (p.Gly2388Arg) c.7114G>C (p.Gly2372Arg) c.7078G>C (p.Gly2360Arg) c.7075G>C (p.Gly2359Arg) c.7030G>C (p.Gly2344Arg) n.7695G>C | |
X | g.77508434C>T | CA413703929 | ATRX | c.7396G>A (p.Gly2466Ser) c.2494G>A (p.Gly832Ser) c.7282G>A (p.Gly2428Ser) c.*7024G>A (n.*7024G>A) n.5716G>A c.7393G>A (p.Gly2465Ser) c.7309G>A (p.Gly2437Ser) c.7279G>A (p.Gly2427Ser) c.7231G>A (p.Gly2411Ser) c.7192G>A (p.Gly2398Ser) c.7117G>A (p.Gly2373Ser) n.8988G>A c.7306G>A (p.Gly2436Ser) c.7276G>A (p.Gly2426Ser) c.7228G>A (p.Gly2410Ser) c.7195G>A (p.Gly2399Ser) c.7165G>A (p.Gly2389Ser) c.7162G>A (p.Gly2388Ser) c.7114G>A (p.Gly2372Ser) c.7078G>A (p.Gly2360Ser) c.7075G>A (p.Gly2359Ser) c.7030G>A (p.Gly2344Ser) n.7695G>A | ClinVar dbSNP gnomAD v4 |
X | g.77508436_77508454del | CA2694139231 | ATRX | c.7378_7396del (p.Tyr2460ValfsTer14) c.2476_2494del (p.Tyr826ValfsTer14) c.7264_7282del (p.Tyr2422ValfsTer14) c.*7006_*7024del (n.*7006_*7024del) n.5698_5716del c.7375_7393del (p.Tyr2459ValfsTer14) c.7291_7309del (p.Tyr2431ValfsTer14) c.7261_7279del (p.Tyr2421ValfsTer14) c.7213_7231del (p.Tyr2405ValfsTer14) c.7174_7192del (p.Tyr2392ValfsTer14) c.7099_7117del (p.Tyr2367ValfsTer14) n.8970_8988del c.7288_7306del (p.Tyr2430ValfsTer14) c.7258_7276del (p.Tyr2420ValfsTer14) c.7210_7228del (p.Tyr2404ValfsTer14) c.7177_7195del (p.Tyr2393ValfsTer14) c.7147_7165del (p.Tyr2383ValfsTer14) c.7144_7162del (p.Tyr2382ValfsTer14) c.7096_7114del (p.Tyr2366ValfsTer14) c.7060_7078del (p.Tyr2354ValfsTer14) c.7057_7075del (p.Tyr2353ValfsTer14) c.7012_7030del (p.Tyr2338ValfsTer14) n.7677_7695del | gnomAD v4 |
X | g.77508435A= | CA2438929042 | ATRX | c.7395T= (p.Gly2465=) c.2493T= (p.Gly831=) c.7281T= (p.Gly2427=) c.*7023T= (n.*7023T=) n.5715T= c.7392T= (p.Gly2464=) c.7308T= (p.Gly2436=) c.7278T= (p.Gly2426=) c.7230T= (p.Gly2410=) c.7191T= (p.Gly2397=) c.7116T= (p.Gly2372=) n.8987T= c.7305T= (p.Gly2435=) c.7275T= (p.Gly2425=) c.7227T= (p.Gly2409=) c.7194T= (p.Gly2398=) c.7164T= (p.Gly2388=) c.7161T= (p.Gly2387=) c.7113T= (p.Gly2371=) c.7077T= (p.Gly2359=) c.7074T= (p.Gly2358=) c.7029T= (p.Gly2343=) n.7694T= | |
X | g.77508435A>C | CA10457389 | ATRX | c.7395T>G (p.Gly2465=) c.2493T>G (p.Gly831=) c.7281T>G (p.Gly2427=) c.*7023T>G (n.*7023T>G) n.5715T>G c.7392T>G (p.Gly2464=) c.7308T>G (p.Gly2436=) c.7278T>G (p.Gly2426=) c.7230T>G (p.Gly2410=) c.7191T>G (p.Gly2397=) c.7116T>G (p.Gly2372=) n.8987T>G c.7305T>G (p.Gly2435=) c.7275T>G (p.Gly2425=) c.7227T>G (p.Gly2409=) c.7194T>G (p.Gly2398=) c.7164T>G (p.Gly2388=) c.7161T>G (p.Gly2387=) c.7113T>G (p.Gly2371=) c.7077T>G (p.Gly2359=) c.7074T>G (p.Gly2358=) c.7029T>G (p.Gly2343=) n.7694T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.77508435A>G | CA517374044 | ATRX | c.7395T>C (p.Gly2465=) c.2493T>C (p.Gly831=) c.7281T>C (p.Gly2427=) c.*7023T>C (n.*7023T>C) n.5715T>C c.7392T>C (p.Gly2464=) c.7308T>C (p.Gly2436=) c.7278T>C (p.Gly2426=) c.7230T>C (p.Gly2410=) c.7191T>C (p.Gly2397=) c.7116T>C (p.Gly2372=) n.8987T>C c.7305T>C (p.Gly2435=) c.7275T>C (p.Gly2425=) c.7227T>C (p.Gly2409=) c.7194T>C (p.Gly2398=) c.7164T>C (p.Gly2388=) c.7161T>C (p.Gly2387=) c.7113T>C (p.Gly2371=) c.7077T>C (p.Gly2359=) c.7074T>C (p.Gly2358=) c.7029T>C (p.Gly2343=) n.7694T>C | dbSNP |
X | g.77508435A>T | CA517374045 | ATRX | c.7395T>A (p.Gly2465=) c.2493T>A (p.Gly831=) c.7281T>A (p.Gly2427=) c.*7023T>A (n.*7023T>A) n.5715T>A c.7392T>A (p.Gly2464=) c.7308T>A (p.Gly2436=) c.7278T>A (p.Gly2426=) c.7230T>A (p.Gly2410=) c.7191T>A (p.Gly2397=) c.7116T>A (p.Gly2372=) n.8987T>A c.7305T>A (p.Gly2435=) c.7275T>A (p.Gly2425=) c.7227T>A (p.Gly2409=) c.7194T>A (p.Gly2398=) c.7164T>A (p.Gly2388=) c.7161T>A (p.Gly2387=) c.7113T>A (p.Gly2371=) c.7077T>A (p.Gly2359=) c.7074T>A (p.Gly2358=) c.7029T>A (p.Gly2343=) n.7694T>A | |
X | g.77508435_77508436delinsAC | CA2438929041 | ATRX | c.7394_7395delinsGT (p.Gly2465=) c.2492_2493delinsGT (p.Gly831=) c.7280_7281delinsGT (p.Gly2427=) c.*7022_*7023delinsGT (n.*7022_*7023delinsGT) n.5714_5715delinsGT c.7391_7392delinsGT (p.Gly2464=) c.7307_7308delinsGT (p.Gly2436=) c.7277_7278delinsGT (p.Gly2426=) c.7229_7230delinsGT (p.Gly2410=) c.7190_7191delinsGT (p.Gly2397=) c.7115_7116delinsGT (p.Gly2372=) n.8986_8987delinsGT c.7304_7305delinsGT (p.Gly2435=) c.7274_7275delinsGT (p.Gly2425=) c.7226_7227delinsGT (p.Gly2409=) c.7193_7194delinsGT (p.Gly2398=) c.7163_7164delinsGT (p.Gly2388=) c.7160_7161delinsGT (p.Gly2387=) c.7112_7113delinsGT (p.Gly2371=) c.7076_7077delinsGT (p.Gly2359=) c.7073_7074delinsGT (p.Gly2358=) c.7028_7029delinsGT (p.Gly2343=) n.7693_7694delinsGT | |
X | g.77508436C>A | CA413703952 | ATRX | c.7394G>T (p.Gly2465Val) c.2492G>T (p.Gly831Val) c.7280G>T (p.Gly2427Val) c.*7022G>T (n.*7022G>T) n.5714G>T c.7391G>T (p.Gly2464Val) c.7307G>T (p.Gly2436Val) c.7277G>T (p.Gly2426Val) c.7229G>T (p.Gly2410Val) c.7190G>T (p.Gly2397Val) c.7115G>T (p.Gly2372Val) n.8986G>T c.7304G>T (p.Gly2435Val) c.7274G>T (p.Gly2425Val) c.7226G>T (p.Gly2409Val) c.7193G>T (p.Gly2398Val) c.7163G>T (p.Gly2388Val) c.7160G>T (p.Gly2387Val) c.7112G>T (p.Gly2371Val) c.7076G>T (p.Gly2359Val) c.7073G>T (p.Gly2358Val) c.7028G>T (p.Gly2343Val) n.7693G>T | |
X | g.77508436C>G | CA413703955 | ATRX | c.7394G>C (p.Gly2465Ala) c.2492G>C (p.Gly831Ala) c.7280G>C (p.Gly2427Ala) c.*7022G>C (n.*7022G>C) n.5714G>C c.7391G>C (p.Gly2464Ala) c.7307G>C (p.Gly2436Ala) c.7277G>C (p.Gly2426Ala) c.7229G>C (p.Gly2410Ala) c.7190G>C (p.Gly2397Ala) c.7115G>C (p.Gly2372Ala) n.8986G>C c.7304G>C (p.Gly2435Ala) c.7274G>C (p.Gly2425Ala) c.7226G>C (p.Gly2409Ala) c.7193G>C (p.Gly2398Ala) c.7163G>C (p.Gly2388Ala) c.7160G>C (p.Gly2387Ala) c.7112G>C (p.Gly2371Ala) c.7076G>C (p.Gly2359Ala) c.7073G>C (p.Gly2358Ala) c.7028G>C (p.Gly2343Ala) n.7693G>C | gnomAD v4 |
X | g.77508436C>T | CA413703956 | ATRX | c.7394G>A (p.Gly2465Asp) c.2492G>A (p.Gly831Asp) c.7280G>A (p.Gly2427Asp) c.*7022G>A (n.*7022G>A) n.5714G>A c.7391G>A (p.Gly2464Asp) c.7307G>A (p.Gly2436Asp) c.7277G>A (p.Gly2426Asp) c.7229G>A (p.Gly2410Asp) c.7190G>A (p.Gly2397Asp) c.7115G>A (p.Gly2372Asp) n.8986G>A c.7304G>A (p.Gly2435Asp) c.7274G>A (p.Gly2425Asp) c.7226G>A (p.Gly2409Asp) c.7193G>A (p.Gly2398Asp) c.7163G>A (p.Gly2388Asp) c.7160G>A (p.Gly2387Asp) c.7112G>A (p.Gly2371Asp) c.7076G>A (p.Gly2359Asp) c.7073G>A (p.Gly2358Asp) c.7028G>A (p.Gly2343Asp) n.7693G>A | gnomAD v4 |
X | g.77508437del | CA221006 | ATRX | c.7394del (p.Gly2465ValfsTer15) c.2492del (p.Gly831ValfsTer15) c.7280del (p.Gly2427ValfsTer15) c.*7022del (n.*7022del) n.5714del c.7391del (p.Gly2464ValfsTer15) c.7307del (p.Gly2436ValfsTer15) c.7277del (p.Gly2426ValfsTer15) c.7229del (p.Gly2410ValfsTer15) c.7190del (p.Gly2397ValfsTer15) c.7115del (p.Gly2372ValfsTer15) n.8986del c.7304del (p.Gly2435ValfsTer15) c.7274del (p.Gly2425ValfsTer15) c.7226del (p.Gly2409ValfsTer15) c.7193del (p.Gly2398ValfsTer15) c.7163del (p.Gly2388ValfsTer15) c.7160del (p.Gly2387ValfsTer15) c.7112del (p.Gly2371ValfsTer15) c.7076del (p.Gly2359ValfsTer15) c.7073del (p.Gly2358ValfsTer15) c.7028del (p.Gly2343ValfsTer15) n.7693del | ClinVar dbSNP |
X | g.77508437C>A | CA413703960 | ATRX | c.7393G>T (p.Gly2465Cys) c.2491G>T (p.Gly831Cys) c.7279G>T (p.Gly2427Cys) c.*7021G>T (n.*7021G>T) n.5713G>T c.7390G>T (p.Gly2464Cys) c.7306G>T (p.Gly2436Cys) c.7276G>T (p.Gly2426Cys) c.7228G>T (p.Gly2410Cys) c.7189G>T (p.Gly2397Cys) c.7114G>T (p.Gly2372Cys) n.8985G>T c.7303G>T (p.Gly2435Cys) c.7273G>T (p.Gly2425Cys) c.7225G>T (p.Gly2409Cys) c.7192G>T (p.Gly2398Cys) c.7162G>T (p.Gly2388Cys) c.7159G>T (p.Gly2387Cys) c.7111G>T (p.Gly2371Cys) c.7075G>T (p.Gly2359Cys) c.7072G>T (p.Gly2358Cys) c.7027G>T (p.Gly2343Cys) n.7692G>T | dbSNP |
X | g.77508437C= | CA2438929043 | ATRX | c.7393G= (p.Gly2465=) c.2491G= (p.Gly831=) c.7279G= (p.Gly2427=) c.*7021G= (n.*7021G=) n.5713G= c.7390G= (p.Gly2464=) c.7306G= (p.Gly2436=) c.7276G= (p.Gly2426=) c.7228G= (p.Gly2410=) c.7189G= (p.Gly2397=) c.7114G= (p.Gly2372=) n.8985G= c.7303G= (p.Gly2435=) c.7273G= (p.Gly2425=) c.7225G= (p.Gly2409=) c.7192G= (p.Gly2398=) c.7162G= (p.Gly2388=) c.7159G= (p.Gly2387=) c.7111G= (p.Gly2371=) c.7075G= (p.Gly2359=) c.7072G= (p.Gly2358=) c.7027G= (p.Gly2343=) n.7692G= | |
X | g.77508437C>G | CA413703963 | ATRX | c.7393G>C (p.Gly2465Arg) c.2491G>C (p.Gly831Arg) c.7279G>C (p.Gly2427Arg) c.*7021G>C (n.*7021G>C) n.5713G>C c.7390G>C (p.Gly2464Arg) c.7306G>C (p.Gly2436Arg) c.7276G>C (p.Gly2426Arg) c.7228G>C (p.Gly2410Arg) c.7189G>C (p.Gly2397Arg) c.7114G>C (p.Gly2372Arg) n.8985G>C c.7303G>C (p.Gly2435Arg) c.7273G>C (p.Gly2425Arg) c.7225G>C (p.Gly2409Arg) c.7192G>C (p.Gly2398Arg) c.7162G>C (p.Gly2388Arg) c.7159G>C (p.Gly2387Arg) c.7111G>C (p.Gly2371Arg) c.7075G>C (p.Gly2359Arg) c.7072G>C (p.Gly2358Arg) c.7027G>C (p.Gly2343Arg) n.7692G>C | |
X | g.77508437C>T | CA10457390 | ATRX | c.7393G>A (p.Gly2465Ser) c.2491G>A (p.Gly831Ser) c.7279G>A (p.Gly2427Ser) c.*7021G>A (n.*7021G>A) n.5713G>A c.7390G>A (p.Gly2464Ser) c.7306G>A (p.Gly2436Ser) c.7276G>A (p.Gly2426Ser) c.7228G>A (p.Gly2410Ser) c.7189G>A (p.Gly2397Ser) c.7114G>A (p.Gly2372Ser) n.8985G>A c.7303G>A (p.Gly2435Ser) c.7273G>A (p.Gly2425Ser) c.7225G>A (p.Gly2409Ser) c.7192G>A (p.Gly2398Ser) c.7162G>A (p.Gly2388Ser) c.7159G>A (p.Gly2387Ser) c.7111G>A (p.Gly2371Ser) c.7075G>A (p.Gly2359Ser) c.7072G>A (p.Gly2358Ser) c.7027G>A (p.Gly2343Ser) n.7692G>A | dbSNP ExAC gnomAD v2 |
X | g.77508438_77508460del | CA2580612367 | ATRX | c.7371_7393del (p.Gly2458TrpfsTer?) c.2469_2491del (p.Gly824TrpfsTer?) c.7257_7279del (p.Gly2420TrpfsTer?) c.*6999_*7021del (n.*6999_*7021del) n.5691_5713del c.7368_7390del (p.Gly2457TrpfsTer?) c.7284_7306del (p.Gly2429TrpfsTer?) c.7254_7276del (p.Gly2419TrpfsTer?) c.7206_7228del (p.Gly2403TrpfsTer?) c.7167_7189del (p.Gly2390TrpfsTer?) c.7092_7114del (p.Gly2365TrpfsTer?) n.8963_8985del c.7281_7303del (p.Gly2428TrpfsTer?) c.7251_7273del (p.Gly2418TrpfsTer?) c.7203_7225del (p.Gly2402TrpfsTer?) c.7170_7192del (p.Gly2391TrpfsTer?) c.7140_7162del (p.Gly2381TrpfsTer?) c.7137_7159del (p.Gly2380TrpfsTer?) c.7089_7111del (p.Gly2364TrpfsTer?) c.7053_7075del (p.Gly2352TrpfsTer?) c.7050_7072del (p.Gly2351TrpfsTer?) c.7005_7027del (p.Gly2336TrpfsTer?) n.7670_7692del | ClinVar |
X | g.77508438A>C | CA517374049 | ATRX | c.7392T>G (p.Ala2464=) c.2490T>G (p.Ala830=) c.7278T>G (p.Ala2426=) c.*7020T>G (n.*7020T>G) n.5712T>G c.7389T>G (p.Ala2463=) c.7305T>G (p.Ala2435=) c.7275T>G (p.Ala2425=) c.7227T>G (p.Ala2409=) c.7188T>G (p.Ala2396=) c.7113T>G (p.Ala2371=) n.8984T>G c.7302T>G (p.Ala2434=) c.7272T>G (p.Ala2424=) c.7224T>G (p.Ala2408=) c.7191T>G (p.Ala2397=) c.7161T>G (p.Ala2387=) c.7158T>G (p.Ala2386=) c.7110T>G (p.Ala2370=) c.7074T>G (p.Ala2358=) c.7071T>G (p.Ala2357=) c.7026T>G (p.Ala2342=) n.7691T>G | |
X | g.77508438A>G | CA517374050 | ATRX | c.7392T>C (p.Ala2464=) c.2490T>C (p.Ala830=) c.7278T>C (p.Ala2426=) c.*7020T>C (n.*7020T>C) n.5712T>C c.7389T>C (p.Ala2463=) c.7305T>C (p.Ala2435=) c.7275T>C (p.Ala2425=) c.7227T>C (p.Ala2409=) c.7188T>C (p.Ala2396=) c.7113T>C (p.Ala2371=) n.8984T>C c.7302T>C (p.Ala2434=) c.7272T>C (p.Ala2424=) c.7224T>C (p.Ala2408=) c.7191T>C (p.Ala2397=) c.7161T>C (p.Ala2387=) c.7158T>C (p.Ala2386=) c.7110T>C (p.Ala2370=) c.7074T>C (p.Ala2358=) c.7071T>C (p.Ala2357=) c.7026T>C (p.Ala2342=) n.7691T>C | dbSNP |
X | g.77508438A>T | CA517374052 | ATRX | c.7392T>A (p.Ala2464=) c.2490T>A (p.Ala830=) c.7278T>A (p.Ala2426=) c.*7020T>A (n.*7020T>A) n.5712T>A c.7389T>A (p.Ala2463=) c.7305T>A (p.Ala2435=) c.7275T>A (p.Ala2425=) c.7227T>A (p.Ala2409=) c.7188T>A (p.Ala2396=) c.7113T>A (p.Ala2371=) n.8984T>A c.7302T>A (p.Ala2434=) c.7272T>A (p.Ala2424=) c.7224T>A (p.Ala2408=) c.7191T>A (p.Ala2397=) c.7161T>A (p.Ala2387=) c.7158T>A (p.Ala2386=) c.7110T>A (p.Ala2370=) c.7074T>A (p.Ala2358=) c.7071T>A (p.Ala2357=) c.7026T>A (p.Ala2342=) n.7691T>A | |
X | g.77508439G>A | CA413703965 | ATRX | c.7391C>T (p.Ala2464Val) c.2489C>T (p.Ala830Val) c.7277C>T (p.Ala2426Val) c.*7019C>T (n.*7019C>T) n.5711C>T c.7388C>T (p.Ala2463Val) c.7304C>T (p.Ala2435Val) c.7274C>T (p.Ala2425Val) c.7226C>T (p.Ala2409Val) c.7187C>T (p.Ala2396Val) c.7112C>T (p.Ala2371Val) n.8983C>T c.7301C>T (p.Ala2434Val) c.7271C>T (p.Ala2424Val) c.7223C>T (p.Ala2408Val) c.7190C>T (p.Ala2397Val) c.7160C>T (p.Ala2387Val) c.7157C>T (p.Ala2386Val) c.7109C>T (p.Ala2370Val) c.7073C>T (p.Ala2358Val) c.7070C>T (p.Ala2357Val) c.7025C>T (p.Ala2342Val) n.7690C>T | |
X | g.77508439G>C | CA413703966 | ATRX | c.7391C>G (p.Ala2464Gly) c.2489C>G (p.Ala830Gly) c.7277C>G (p.Ala2426Gly) c.*7019C>G (n.*7019C>G) n.5711C>G c.7388C>G (p.Ala2463Gly) c.7304C>G (p.Ala2435Gly) c.7274C>G (p.Ala2425Gly) c.7226C>G (p.Ala2409Gly) c.7187C>G (p.Ala2396Gly) c.7112C>G (p.Ala2371Gly) n.8983C>G c.7301C>G (p.Ala2434Gly) c.7271C>G (p.Ala2424Gly) c.7223C>G (p.Ala2408Gly) c.7190C>G (p.Ala2397Gly) c.7160C>G (p.Ala2387Gly) c.7157C>G (p.Ala2386Gly) c.7109C>G (p.Ala2370Gly) c.7073C>G (p.Ala2358Gly) c.7070C>G (p.Ala2357Gly) c.7025C>G (p.Ala2342Gly) n.7690C>G | dbSNP |
X | g.77508439G>T | CA413703968 | ATRX | c.7391C>A (p.Ala2464Asp) c.2489C>A (p.Ala830Asp) c.7277C>A (p.Ala2426Asp) c.*7019C>A (n.*7019C>A) n.5711C>A c.7388C>A (p.Ala2463Asp) c.7304C>A (p.Ala2435Asp) c.7274C>A (p.Ala2425Asp) c.7226C>A (p.Ala2409Asp) c.7187C>A (p.Ala2396Asp) c.7112C>A (p.Ala2371Asp) n.8983C>A c.7301C>A (p.Ala2434Asp) c.7271C>A (p.Ala2424Asp) c.7223C>A (p.Ala2408Asp) c.7190C>A (p.Ala2397Asp) c.7160C>A (p.Ala2387Asp) c.7157C>A (p.Ala2386Asp) c.7109C>A (p.Ala2370Asp) c.7073C>A (p.Ala2358Asp) c.7070C>A (p.Ala2357Asp) c.7025C>A (p.Ala2342Asp) n.7690C>A | |
X | g.77508440C>A | CA413703969 | ATRX | c.7390G>T (p.Ala2464Ser) c.2488G>T (p.Ala830Ser) c.7276G>T (p.Ala2426Ser) c.*7018G>T (n.*7018G>T) n.5710G>T c.7387G>T (p.Ala2463Ser) c.7303G>T (p.Ala2435Ser) c.7273G>T (p.Ala2425Ser) c.7225G>T (p.Ala2409Ser) c.7186G>T (p.Ala2396Ser) c.7111G>T (p.Ala2371Ser) n.8982G>T c.7300G>T (p.Ala2434Ser) c.7270G>T (p.Ala2424Ser) c.7222G>T (p.Ala2408Ser) c.7189G>T (p.Ala2397Ser) c.7159G>T (p.Ala2387Ser) c.7156G>T (p.Ala2386Ser) c.7108G>T (p.Ala2370Ser) c.7072G>T (p.Ala2358Ser) c.7069G>T (p.Ala2357Ser) c.7024G>T (p.Ala2342Ser) n.7689G>T | dbSNP |
X | g.77508440C>G | CA413703971 | ATRX | c.7390G>C (p.Ala2464Pro) c.2488G>C (p.Ala830Pro) c.7276G>C (p.Ala2426Pro) c.*7018G>C (n.*7018G>C) n.5710G>C c.7387G>C (p.Ala2463Pro) c.7303G>C (p.Ala2435Pro) c.7273G>C (p.Ala2425Pro) c.7225G>C (p.Ala2409Pro) c.7186G>C (p.Ala2396Pro) c.7111G>C (p.Ala2371Pro) n.8982G>C c.7300G>C (p.Ala2434Pro) c.7270G>C (p.Ala2424Pro) c.7222G>C (p.Ala2408Pro) c.7189G>C (p.Ala2397Pro) c.7159G>C (p.Ala2387Pro) c.7156G>C (p.Ala2386Pro) c.7108G>C (p.Ala2370Pro) c.7072G>C (p.Ala2358Pro) c.7069G>C (p.Ala2357Pro) c.7024G>C (p.Ala2342Pro) n.7689G>C | |
X | g.77508440C>T | CA413703972 | ATRX | c.7390G>A (p.Ala2464Thr) c.2488G>A (p.Ala830Thr) c.7276G>A (p.Ala2426Thr) c.*7018G>A (n.*7018G>A) n.5710G>A c.7387G>A (p.Ala2463Thr) c.7303G>A (p.Ala2435Thr) c.7273G>A (p.Ala2425Thr) c.7225G>A (p.Ala2409Thr) c.7186G>A (p.Ala2396Thr) c.7111G>A (p.Ala2371Thr) n.8982G>A c.7300G>A (p.Ala2434Thr) c.7270G>A (p.Ala2424Thr) c.7222G>A (p.Ala2408Thr) c.7189G>A (p.Ala2397Thr) c.7159G>A (p.Ala2387Thr) c.7156G>A (p.Ala2386Thr) c.7108G>A (p.Ala2370Thr) c.7072G>A (p.Ala2358Thr) c.7069G>A (p.Ala2357Thr) c.7024G>A (p.Ala2342Thr) n.7689G>A | ClinVar |
X | g.77508441C>A | CA517374053 | ATRX | c.7389G>T (p.Val2463=) c.2487G>T (p.Val829=) c.7275G>T (p.Val2425=) c.*7017G>T (n.*7017G>T) n.5709G>T c.7386G>T (p.Val2462=) c.7302G>T (p.Val2434=) c.7272G>T (p.Val2424=) c.7224G>T (p.Val2408=) c.7185G>T (p.Val2395=) c.7110G>T (p.Val2370=) n.8981G>T c.7299G>T (p.Val2433=) c.7269G>T (p.Val2423=) c.7221G>T (p.Val2407=) c.7188G>T (p.Val2396=) c.7158G>T (p.Val2386=) c.7155G>T (p.Val2385=) c.7107G>T (p.Val2369=) c.7071G>T (p.Val2357=) c.7068G>T (p.Val2356=) c.7023G>T (p.Val2341=) n.7688G>T | |
X | g.77508441C>G | CA517374055 | ATRX | c.7389G>C (p.Val2463=) c.2487G>C (p.Val829=) c.7275G>C (p.Val2425=) c.*7017G>C (n.*7017G>C) n.5709G>C c.7386G>C (p.Val2462=) c.7302G>C (p.Val2434=) c.7272G>C (p.Val2424=) c.7224G>C (p.Val2408=) c.7185G>C (p.Val2395=) c.7110G>C (p.Val2370=) n.8981G>C c.7299G>C (p.Val2433=) c.7269G>C (p.Val2423=) c.7221G>C (p.Val2407=) c.7188G>C (p.Val2396=) c.7158G>C (p.Val2386=) c.7155G>C (p.Val2385=) c.7107G>C (p.Val2369=) c.7071G>C (p.Val2357=) c.7068G>C (p.Val2356=) c.7023G>C (p.Val2341=) n.7688G>C | |
X | g.77508441C>T | CA517374054 | ATRX | c.7389G>A (p.Val2463=) c.2487G>A (p.Val829=) c.7275G>A (p.Val2425=) c.*7017G>A (n.*7017G>A) n.5709G>A c.7386G>A (p.Val2462=) c.7302G>A (p.Val2434=) c.7272G>A (p.Val2424=) c.7224G>A (p.Val2408=) c.7185G>A (p.Val2395=) c.7110G>A (p.Val2370=) n.8981G>A c.7299G>A (p.Val2433=) c.7269G>A (p.Val2423=) c.7221G>A (p.Val2407=) c.7188G>A (p.Val2396=) c.7158G>A (p.Val2386=) c.7155G>A (p.Val2385=) c.7107G>A (p.Val2369=) c.7071G>A (p.Val2357=) c.7068G>A (p.Val2356=) c.7023G>A (p.Val2341=) n.7688G>A | dbSNP gnomAD v4 |
X | g.77508442A>C | CA413703975 | ATRX | c.7388T>G (p.Val2463Gly) c.2486T>G (p.Val829Gly) c.7274T>G (p.Val2425Gly) c.*7016T>G (n.*7016T>G) n.5708T>G c.7385T>G (p.Val2462Gly) c.7301T>G (p.Val2434Gly) c.7271T>G (p.Val2424Gly) c.7223T>G (p.Val2408Gly) c.7184T>G (p.Val2395Gly) c.7109T>G (p.Val2370Gly) n.8980T>G c.7298T>G (p.Val2433Gly) c.7268T>G (p.Val2423Gly) c.7220T>G (p.Val2407Gly) c.7187T>G (p.Val2396Gly) c.7157T>G (p.Val2386Gly) c.7154T>G (p.Val2385Gly) c.7106T>G (p.Val2369Gly) c.7070T>G (p.Val2357Gly) c.7067T>G (p.Val2356Gly) c.7022T>G (p.Val2341Gly) n.7687T>G | |
X | g.77508442A>G | CA413703974 | ATRX | c.7388T>C (p.Val2463Ala) c.2486T>C (p.Val829Ala) c.7274T>C (p.Val2425Ala) c.*7016T>C (n.*7016T>C) n.5708T>C c.7385T>C (p.Val2462Ala) c.7301T>C (p.Val2434Ala) c.7271T>C (p.Val2424Ala) c.7223T>C (p.Val2408Ala) c.7184T>C (p.Val2395Ala) c.7109T>C (p.Val2370Ala) n.8980T>C c.7298T>C (p.Val2433Ala) c.7268T>C (p.Val2423Ala) c.7220T>C (p.Val2407Ala) c.7187T>C (p.Val2396Ala) c.7157T>C (p.Val2386Ala) c.7154T>C (p.Val2385Ala) c.7106T>C (p.Val2369Ala) c.7070T>C (p.Val2357Ala) c.7067T>C (p.Val2356Ala) c.7022T>C (p.Val2341Ala) n.7687T>C | |
X | g.77508442A>T | CA413703973 | ATRX | c.7388T>A (p.Val2463Glu) c.2486T>A (p.Val829Glu) c.7274T>A (p.Val2425Glu) c.*7016T>A (n.*7016T>A) n.5708T>A c.7385T>A (p.Val2462Glu) c.7301T>A (p.Val2434Glu) c.7271T>A (p.Val2424Glu) c.7223T>A (p.Val2408Glu) c.7184T>A (p.Val2395Glu) c.7109T>A (p.Val2370Glu) n.8980T>A c.7298T>A (p.Val2433Glu) c.7268T>A (p.Val2423Glu) c.7220T>A (p.Val2407Glu) c.7187T>A (p.Val2396Glu) c.7157T>A (p.Val2386Glu) c.7154T>A (p.Val2385Glu) c.7106T>A (p.Val2369Glu) c.7070T>A (p.Val2357Glu) c.7067T>A (p.Val2356Glu) c.7022T>A (p.Val2341Glu) n.7687T>A | dbSNP |
X | g.77508443C>A | CA413703976 | ATRX | c.7387G>T (p.Val2463Leu) c.2485G>T (p.Val829Leu) c.7273G>T (p.Val2425Leu) c.*7015G>T (n.*7015G>T) n.5707G>T c.7384G>T (p.Val2462Leu) c.7300G>T (p.Val2434Leu) c.7270G>T (p.Val2424Leu) c.7222G>T (p.Val2408Leu) c.7183G>T (p.Val2395Leu) c.7108G>T (p.Val2370Leu) n.8979G>T c.7297G>T (p.Val2433Leu) c.7267G>T (p.Val2423Leu) c.7219G>T (p.Val2407Leu) c.7186G>T (p.Val2396Leu) c.7156G>T (p.Val2386Leu) c.7153G>T (p.Val2385Leu) c.7105G>T (p.Val2369Leu) c.7069G>T (p.Val2357Leu) c.7066G>T (p.Val2356Leu) c.7021G>T (p.Val2341Leu) n.7686G>T | |
X | g.77508443C>G | CA413703977 | ATRX | c.7387G>C (p.Val2463Leu) c.2485G>C (p.Val829Leu) c.7273G>C (p.Val2425Leu) c.*7015G>C (n.*7015G>C) n.5707G>C c.7384G>C (p.Val2462Leu) c.7300G>C (p.Val2434Leu) c.7270G>C (p.Val2424Leu) c.7222G>C (p.Val2408Leu) c.7183G>C (p.Val2395Leu) c.7108G>C (p.Val2370Leu) n.8979G>C c.7297G>C (p.Val2433Leu) c.7267G>C (p.Val2423Leu) c.7219G>C (p.Val2407Leu) c.7186G>C (p.Val2396Leu) c.7156G>C (p.Val2386Leu) c.7153G>C (p.Val2385Leu) c.7105G>C (p.Val2369Leu) c.7069G>C (p.Val2357Leu) c.7066G>C (p.Val2356Leu) c.7021G>C (p.Val2341Leu) n.7686G>C | |
X | g.77508443C>T | CA413703978 | ATRX | c.7387G>A (p.Val2463Met) c.2485G>A (p.Val829Met) c.7273G>A (p.Val2425Met) c.*7015G>A (n.*7015G>A) n.5707G>A c.7384G>A (p.Val2462Met) c.7300G>A (p.Val2434Met) c.7270G>A (p.Val2424Met) c.7222G>A (p.Val2408Met) c.7183G>A (p.Val2395Met) c.7108G>A (p.Val2370Met) n.8979G>A c.7297G>A (p.Val2433Met) c.7267G>A (p.Val2423Met) c.7219G>A (p.Val2407Met) c.7186G>A (p.Val2396Met) c.7156G>A (p.Val2386Met) c.7153G>A (p.Val2385Met) c.7105G>A (p.Val2369Met) c.7069G>A (p.Val2357Met) c.7066G>A (p.Val2356Met) c.7021G>A (p.Val2341Met) n.7686G>A | |
X | g.77508444T>A | CA517374056 | ATRX | c.7386A>T (p.Pro2462=) c.2484A>T (p.Pro828=) c.7272A>T (p.Pro2424=) c.*7014A>T (n.*7014A>T) n.5706A>T c.7383A>T (p.Pro2461=) c.7299A>T (p.Pro2433=) c.7269A>T (p.Pro2423=) c.7221A>T (p.Pro2407=) c.7182A>T (p.Pro2394=) c.7107A>T (p.Pro2369=) n.8978A>T c.7296A>T (p.Pro2432=) c.7266A>T (p.Pro2422=) c.7218A>T (p.Pro2406=) c.7185A>T (p.Pro2395=) c.7155A>T (p.Pro2385=) c.7152A>T (p.Pro2384=) c.7104A>T (p.Pro2368=) c.7068A>T (p.Pro2356=) c.7065A>T (p.Pro2355=) c.7020A>T (p.Pro2340=) n.7685A>T | |
X | g.77508444T>C | CA517374057 | ATRX | c.7386A>G (p.Pro2462=) c.2484A>G (p.Pro828=) c.7272A>G (p.Pro2424=) c.*7014A>G (n.*7014A>G) n.5706A>G c.7383A>G (p.Pro2461=) c.7299A>G (p.Pro2433=) c.7269A>G (p.Pro2423=) c.7221A>G (p.Pro2407=) c.7182A>G (p.Pro2394=) c.7107A>G (p.Pro2369=) n.8978A>G c.7296A>G (p.Pro2432=) c.7266A>G (p.Pro2422=) c.7218A>G (p.Pro2406=) c.7185A>G (p.Pro2395=) c.7155A>G (p.Pro2385=) c.7152A>G (p.Pro2384=) c.7104A>G (p.Pro2368=) c.7068A>G (p.Pro2356=) c.7065A>G (p.Pro2355=) c.7020A>G (p.Pro2340=) n.7685A>G | |
X | g.77508444T>G | CA517374058 | ATRX | c.7386A>C (p.Pro2462=) c.2484A>C (p.Pro828=) c.7272A>C (p.Pro2424=) c.*7014A>C (n.*7014A>C) n.5706A>C c.7383A>C (p.Pro2461=) c.7299A>C (p.Pro2433=) c.7269A>C (p.Pro2423=) c.7221A>C (p.Pro2407=) c.7182A>C (p.Pro2394=) c.7107A>C (p.Pro2369=) n.8978A>C c.7296A>C (p.Pro2432=) c.7266A>C (p.Pro2422=) c.7218A>C (p.Pro2406=) c.7185A>C (p.Pro2395=) c.7155A>C (p.Pro2385=) c.7152A>C (p.Pro2384=) c.7104A>C (p.Pro2368=) c.7068A>C (p.Pro2356=) c.7065A>C (p.Pro2355=) c.7020A>C (p.Pro2340=) n.7685A>C | |
X | g.77508445G>A | CA413703980 | ATRX | c.7385C>T (p.Pro2462Leu) c.2483C>T (p.Pro828Leu) c.7271C>T (p.Pro2424Leu) c.*7013C>T (n.*7013C>T) n.5705C>T c.7382C>T (p.Pro2461Leu) c.7298C>T (p.Pro2433Leu) c.7268C>T (p.Pro2423Leu) c.7220C>T (p.Pro2407Leu) c.7181C>T (p.Pro2394Leu) c.7106C>T (p.Pro2369Leu) n.8977C>T c.7295C>T (p.Pro2432Leu) c.7265C>T (p.Pro2422Leu) c.7217C>T (p.Pro2406Leu) c.7184C>T (p.Pro2395Leu) c.7154C>T (p.Pro2385Leu) c.7151C>T (p.Pro2384Leu) c.7103C>T (p.Pro2368Leu) c.7067C>T (p.Pro2356Leu) c.7064C>T (p.Pro2355Leu) c.7019C>T (p.Pro2340Leu) n.7684C>T | |
X | g.77508445G>C | CA413703982 | ATRX | c.7385C>G (p.Pro2462Arg) c.2483C>G (p.Pro828Arg) c.7271C>G (p.Pro2424Arg) c.*7013C>G (n.*7013C>G) n.5705C>G c.7382C>G (p.Pro2461Arg) c.7298C>G (p.Pro2433Arg) c.7268C>G (p.Pro2423Arg) c.7220C>G (p.Pro2407Arg) c.7181C>G (p.Pro2394Arg) c.7106C>G (p.Pro2369Arg) n.8977C>G c.7295C>G (p.Pro2432Arg) c.7265C>G (p.Pro2422Arg) c.7217C>G (p.Pro2406Arg) c.7184C>G (p.Pro2395Arg) c.7154C>G (p.Pro2385Arg) c.7151C>G (p.Pro2384Arg) c.7103C>G (p.Pro2368Arg) c.7067C>G (p.Pro2356Arg) c.7064C>G (p.Pro2355Arg) c.7019C>G (p.Pro2340Arg) n.7684C>G | |
X | g.77508445G>T | CA413703984 | ATRX | c.7385C>A (p.Pro2462Gln) c.2483C>A (p.Pro828Gln) c.7271C>A (p.Pro2424Gln) c.*7013C>A (n.*7013C>A) n.5705C>A c.7382C>A (p.Pro2461Gln) c.7298C>A (p.Pro2433Gln) c.7268C>A (p.Pro2423Gln) c.7220C>A (p.Pro2407Gln) c.7181C>A (p.Pro2394Gln) c.7106C>A (p.Pro2369Gln) n.8977C>A c.7295C>A (p.Pro2432Gln) c.7265C>A (p.Pro2422Gln) c.7217C>A (p.Pro2406Gln) c.7184C>A (p.Pro2395Gln) c.7154C>A (p.Pro2385Gln) c.7151C>A (p.Pro2384Gln) c.7103C>A (p.Pro2368Gln) c.7067C>A (p.Pro2356Gln) c.7064C>A (p.Pro2355Gln) c.7019C>A (p.Pro2340Gln) n.7684C>A | |
X | g.77508446del | CA2738724188 | ATRX | c.7385del (p.Pro2462GlnfsTer18) c.2483del (p.Pro828GlnfsTer18) c.7271del (p.Pro2424GlnfsTer18) c.*7013del (n.*7013del) n.5705del c.7382del (p.Pro2461GlnfsTer18) c.7298del (p.Pro2433GlnfsTer18) c.7268del (p.Pro2423GlnfsTer18) c.7220del (p.Pro2407GlnfsTer18) c.7181del (p.Pro2394GlnfsTer18) c.7106del (p.Pro2369GlnfsTer18) n.8977del c.7295del (p.Pro2432GlnfsTer18) c.7265del (p.Pro2422GlnfsTer18) c.7217del (p.Pro2406GlnfsTer18) c.7184del (p.Pro2395GlnfsTer18) c.7154del (p.Pro2385GlnfsTer18) c.7151del (p.Pro2384GlnfsTer18) c.7103del (p.Pro2368GlnfsTer18) c.7067del (p.Pro2356GlnfsTer18) c.7064del (p.Pro2355GlnfsTer18) c.7019del (p.Pro2340GlnfsTer18) n.7684del | dbSNP |
X | g.77508446G>A | CA413703992 | ATRX | c.7384C>T (p.Pro2462Ser) c.2482C>T (p.Pro828Ser) c.7270C>T (p.Pro2424Ser) c.*7012C>T (n.*7012C>T) n.5704C>T c.7381C>T (p.Pro2461Ser) c.7297C>T (p.Pro2433Ser) c.7267C>T (p.Pro2423Ser) c.7219C>T (p.Pro2407Ser) c.7180C>T (p.Pro2394Ser) c.7105C>T (p.Pro2369Ser) n.8976C>T c.7294C>T (p.Pro2432Ser) c.7264C>T (p.Pro2422Ser) c.7216C>T (p.Pro2406Ser) c.7183C>T (p.Pro2395Ser) c.7153C>T (p.Pro2385Ser) c.7150C>T (p.Pro2384Ser) c.7102C>T (p.Pro2368Ser) c.7066C>T (p.Pro2356Ser) c.7063C>T (p.Pro2355Ser) c.7018C>T (p.Pro2340Ser) n.7683C>T | dbSNP gnomAD v4 |
X | g.77508446G>C | CA413703986 | ATRX | c.7384C>G (p.Pro2462Ala) c.2482C>G (p.Pro828Ala) c.7270C>G (p.Pro2424Ala) c.*7012C>G (n.*7012C>G) n.5704C>G c.7381C>G (p.Pro2461Ala) c.7297C>G (p.Pro2433Ala) c.7267C>G (p.Pro2423Ala) c.7219C>G (p.Pro2407Ala) c.7180C>G (p.Pro2394Ala) c.7105C>G (p.Pro2369Ala) n.8976C>G c.7294C>G (p.Pro2432Ala) c.7264C>G (p.Pro2422Ala) c.7216C>G (p.Pro2406Ala) c.7183C>G (p.Pro2395Ala) c.7153C>G (p.Pro2385Ala) c.7150C>G (p.Pro2384Ala) c.7102C>G (p.Pro2368Ala) c.7066C>G (p.Pro2356Ala) c.7063C>G (p.Pro2355Ala) c.7018C>G (p.Pro2340Ala) n.7683C>G | dbSNP |
X | g.77508446G= | CA2438929044 | ATRX | c.7384C= (p.Pro2462=) c.2482C= (p.Pro828=) c.7270C= (p.Pro2424=) c.*7012C= (n.*7012C=) n.5704C= c.7381C= (p.Pro2461=) c.7297C= (p.Pro2433=) c.7267C= (p.Pro2423=) c.7219C= (p.Pro2407=) c.7180C= (p.Pro2394=) c.7105C= (p.Pro2369=) n.8976C= c.7294C= (p.Pro2432=) c.7264C= (p.Pro2422=) c.7216C= (p.Pro2406=) c.7183C= (p.Pro2395=) c.7153C= (p.Pro2385=) c.7150C= (p.Pro2384=) c.7102C= (p.Pro2368=) c.7066C= (p.Pro2356=) c.7063C= (p.Pro2355=) c.7018C= (p.Pro2340=) n.7683C= | |
X | g.77508446G>T | CA413703989 | ATRX | c.7384C>A (p.Pro2462Thr) c.2482C>A (p.Pro828Thr) c.7270C>A (p.Pro2424Thr) c.*7012C>A (n.*7012C>A) n.5704C>A c.7381C>A (p.Pro2461Thr) c.7297C>A (p.Pro2433Thr) c.7267C>A (p.Pro2423Thr) c.7219C>A (p.Pro2407Thr) c.7180C>A (p.Pro2394Thr) c.7105C>A (p.Pro2369Thr) n.8976C>A c.7294C>A (p.Pro2432Thr) c.7264C>A (p.Pro2422Thr) c.7216C>A (p.Pro2406Thr) c.7183C>A (p.Pro2395Thr) c.7153C>A (p.Pro2385Thr) c.7150C>A (p.Pro2384Thr) c.7102C>A (p.Pro2368Thr) c.7066C>A (p.Pro2356Thr) c.7063C>A (p.Pro2355Thr) c.7018C>A (p.Pro2340Thr) n.7683C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.77508447C>A | CA413703995 | ATRX | c.7383G>T (p.Gln2461His) c.2481G>T (p.Gln827His) c.7269G>T (p.Gln2423His) c.*7011G>T (n.*7011G>T) n.5703G>T c.7380G>T (p.Gln2460His) c.7296G>T (p.Gln2432His) c.7266G>T (p.Gln2422His) c.7218G>T (p.Gln2406His) c.7179G>T (p.Gln2393His) c.7104G>T (p.Gln2368His) n.8975G>T c.7293G>T (p.Gln2431His) c.7263G>T (p.Gln2421His) c.7215G>T (p.Gln2405His) c.7182G>T (p.Gln2394His) c.7152G>T (p.Gln2384His) c.7149G>T (p.Gln2383His) c.7101G>T (p.Gln2367His) c.7065G>T (p.Gln2355His) c.7062G>T (p.Gln2354His) c.7017G>T (p.Gln2339His) n.7682G>T | |
X | g.77508447C>G | CA413703998 | ATRX | c.7383G>C (p.Gln2461His) c.2481G>C (p.Gln827His) c.7269G>C (p.Gln2423His) c.*7011G>C (n.*7011G>C) n.5703G>C c.7380G>C (p.Gln2460His) c.7296G>C (p.Gln2432His) c.7266G>C (p.Gln2422His) c.7218G>C (p.Gln2406His) c.7179G>C (p.Gln2393His) c.7104G>C (p.Gln2368His) n.8975G>C c.7293G>C (p.Gln2431His) c.7263G>C (p.Gln2421His) c.7215G>C (p.Gln2405His) c.7182G>C (p.Gln2394His) c.7152G>C (p.Gln2384His) c.7149G>C (p.Gln2383His) c.7101G>C (p.Gln2367His) c.7065G>C (p.Gln2355His) c.7062G>C (p.Gln2354His) c.7017G>C (p.Gln2339His) n.7682G>C | |
X | g.77508447C>T | CA517374060 | ATRX | c.7383G>A (p.Gln2461=) c.2481G>A (p.Gln827=) c.7269G>A (p.Gln2423=) c.*7011G>A (n.*7011G>A) n.5703G>A c.7380G>A (p.Gln2460=) c.7296G>A (p.Gln2432=) c.7266G>A (p.Gln2422=) c.7218G>A (p.Gln2406=) c.7179G>A (p.Gln2393=) c.7104G>A (p.Gln2368=) n.8975G>A c.7293G>A (p.Gln2431=) c.7263G>A (p.Gln2421=) c.7215G>A (p.Gln2405=) c.7182G>A (p.Gln2394=) c.7152G>A (p.Gln2384=) c.7149G>A (p.Gln2383=) c.7101G>A (p.Gln2367=) c.7065G>A (p.Gln2355=) c.7062G>A (p.Gln2354=) c.7017G>A (p.Gln2339=) n.7682G>A | |
X | g.77508448T>A | CA413704002 | ATRX | c.7382A>T (p.Gln2461Leu) c.2480A>T (p.Gln827Leu) c.7268A>T (p.Gln2423Leu) c.*7010A>T (n.*7010A>T) n.5702A>T c.7379A>T (p.Gln2460Leu) c.7295A>T (p.Gln2432Leu) c.7265A>T (p.Gln2422Leu) c.7217A>T (p.Gln2406Leu) c.7178A>T (p.Gln2393Leu) c.7103A>T (p.Gln2368Leu) n.8974A>T c.7292A>T (p.Gln2431Leu) c.7262A>T (p.Gln2421Leu) c.7214A>T (p.Gln2405Leu) c.7181A>T (p.Gln2394Leu) c.7151A>T (p.Gln2384Leu) c.7148A>T (p.Gln2383Leu) c.7100A>T (p.Gln2367Leu) c.7064A>T (p.Gln2355Leu) c.7061A>T (p.Gln2354Leu) c.7016A>T (p.Gln2339Leu) n.7681A>T | |
X | g.77508448T>C | CA413704004 | ATRX | c.7382A>G (p.Gln2461Arg) c.2480A>G (p.Gln827Arg) c.7268A>G (p.Gln2423Arg) c.*7010A>G (n.*7010A>G) n.5702A>G c.7379A>G (p.Gln2460Arg) c.7295A>G (p.Gln2432Arg) c.7265A>G (p.Gln2422Arg) c.7217A>G (p.Gln2406Arg) c.7178A>G (p.Gln2393Arg) c.7103A>G (p.Gln2368Arg) n.8974A>G c.7292A>G (p.Gln2431Arg) c.7262A>G (p.Gln2421Arg) c.7214A>G (p.Gln2405Arg) c.7181A>G (p.Gln2394Arg) c.7151A>G (p.Gln2384Arg) c.7148A>G (p.Gln2383Arg) c.7100A>G (p.Gln2367Arg) c.7064A>G (p.Gln2355Arg) c.7061A>G (p.Gln2354Arg) c.7016A>G (p.Gln2339Arg) n.7681A>G | |
X | g.77508448T>G | CA413704006 | ATRX | c.7382A>C (p.Gln2461Pro) c.2480A>C (p.Gln827Pro) c.7268A>C (p.Gln2423Pro) c.*7010A>C (n.*7010A>C) n.5702A>C c.7379A>C (p.Gln2460Pro) c.7295A>C (p.Gln2432Pro) c.7265A>C (p.Gln2422Pro) c.7217A>C (p.Gln2406Pro) c.7178A>C (p.Gln2393Pro) c.7103A>C (p.Gln2368Pro) n.8974A>C c.7292A>C (p.Gln2431Pro) c.7262A>C (p.Gln2421Pro) c.7214A>C (p.Gln2405Pro) c.7181A>C (p.Gln2394Pro) c.7151A>C (p.Gln2384Pro) c.7148A>C (p.Gln2383Pro) c.7100A>C (p.Gln2367Pro) c.7064A>C (p.Gln2355Pro) c.7061A>C (p.Gln2354Pro) c.7016A>C (p.Gln2339Pro) n.7681A>C | |
X | g.77508449G>A | CA413704008 | ATRX | c.7381C>T (p.Gln2461Ter) c.2479C>T (p.Gln827Ter) c.7267C>T (p.Gln2423Ter) c.*7009C>T (n.*7009C>T) n.5701C>T c.7378C>T (p.Gln2460Ter) c.7294C>T (p.Gln2432Ter) c.7264C>T (p.Gln2422Ter) c.7216C>T (p.Gln2406Ter) c.7177C>T (p.Gln2393Ter) c.7102C>T (p.Gln2368Ter) n.8973C>T c.7291C>T (p.Gln2431Ter) c.7261C>T (p.Gln2421Ter) c.7213C>T (p.Gln2405Ter) c.7180C>T (p.Gln2394Ter) c.7150C>T (p.Gln2384Ter) c.7147C>T (p.Gln2383Ter) c.7099C>T (p.Gln2367Ter) c.7063C>T (p.Gln2355Ter) c.7060C>T (p.Gln2354Ter) c.7015C>T (p.Gln2339Ter) n.7680C>T | dbSNP |
X | g.77508449G>C | CA413704012 | ATRX | c.7381C>G (p.Gln2461Glu) c.2479C>G (p.Gln827Glu) c.7267C>G (p.Gln2423Glu) c.*7009C>G (n.*7009C>G) n.5701C>G c.7378C>G (p.Gln2460Glu) c.7294C>G (p.Gln2432Glu) c.7264C>G (p.Gln2422Glu) c.7216C>G (p.Gln2406Glu) c.7177C>G (p.Gln2393Glu) c.7102C>G (p.Gln2368Glu) n.8973C>G c.7291C>G (p.Gln2431Glu) c.7261C>G (p.Gln2421Glu) c.7213C>G (p.Gln2405Glu) c.7180C>G (p.Gln2394Glu) c.7150C>G (p.Gln2384Glu) c.7147C>G (p.Gln2383Glu) c.7099C>G (p.Gln2367Glu) c.7063C>G (p.Gln2355Glu) c.7060C>G (p.Gln2354Glu) c.7015C>G (p.Gln2339Glu) n.7680C>G | dbSNP |
X | g.77508449G= | CA2438929045 | ATRX | c.7381C= (p.Gln2461=) c.2479C= (p.Gln827=) c.7267C= (p.Gln2423=) c.*7009C= (n.*7009C=) n.5701C= c.7378C= (p.Gln2460=) c.7294C= (p.Gln2432=) c.7264C= (p.Gln2422=) c.7216C= (p.Gln2406=) c.7177C= (p.Gln2393=) c.7102C= (p.Gln2368=) n.8973C= c.7291C= (p.Gln2431=) c.7261C= (p.Gln2421=) c.7213C= (p.Gln2405=) c.7180C= (p.Gln2394=) c.7150C= (p.Gln2384=) c.7147C= (p.Gln2383=) c.7099C= (p.Gln2367=) c.7063C= (p.Gln2355=) c.7060C= (p.Gln2354=) c.7015C= (p.Gln2339=) n.7680C= | |
X | g.77508449G>T | CA413704010 | ATRX | c.7381C>A (p.Gln2461Lys) c.2479C>A (p.Gln827Lys) c.7267C>A (p.Gln2423Lys) c.*7009C>A (n.*7009C>A) n.5701C>A c.7378C>A (p.Gln2460Lys) c.7294C>A (p.Gln2432Lys) c.7264C>A (p.Gln2422Lys) c.7216C>A (p.Gln2406Lys) c.7177C>A (p.Gln2393Lys) c.7102C>A (p.Gln2368Lys) n.8973C>A c.7291C>A (p.Gln2431Lys) c.7261C>A (p.Gln2421Lys) c.7213C>A (p.Gln2405Lys) c.7180C>A (p.Gln2394Lys) c.7150C>A (p.Gln2384Lys) c.7147C>A (p.Gln2383Lys) c.7099C>A (p.Gln2367Lys) c.7063C>A (p.Gln2355Lys) c.7060C>A (p.Gln2354Lys) c.7015C>A (p.Gln2339Lys) n.7680C>A | dbSNP gnomAD v3 gnomAD v4 |
X | g.77508450A>C | CA413704014 | ATRX | c.7380T>G (p.Tyr2460Ter) c.2478T>G (p.Tyr826Ter) c.7266T>G (p.Tyr2422Ter) c.*7008T>G (n.*7008T>G) n.5700T>G c.7377T>G (p.Tyr2459Ter) c.7293T>G (p.Tyr2431Ter) c.7263T>G (p.Tyr2421Ter) c.7215T>G (p.Tyr2405Ter) c.7176T>G (p.Tyr2392Ter) c.7101T>G (p.Tyr2367Ter) n.8972T>G c.7290T>G (p.Tyr2430Ter) c.7260T>G (p.Tyr2420Ter) c.7212T>G (p.Tyr2404Ter) c.7179T>G (p.Tyr2393Ter) c.7149T>G (p.Tyr2383Ter) c.7146T>G (p.Tyr2382Ter) c.7098T>G (p.Tyr2366Ter) c.7062T>G (p.Tyr2354Ter) c.7059T>G (p.Tyr2353Ter) c.7014T>G (p.Tyr2338Ter) n.7679T>G | |
X | g.77508450A>G | CA517374063 | ATRX | c.7380T>C (p.Tyr2460=) c.2478T>C (p.Tyr826=) c.7266T>C (p.Tyr2422=) c.*7008T>C (n.*7008T>C) n.5700T>C c.7377T>C (p.Tyr2459=) c.7293T>C (p.Tyr2431=) c.7263T>C (p.Tyr2421=) c.7215T>C (p.Tyr2405=) c.7176T>C (p.Tyr2392=) c.7101T>C (p.Tyr2367=) n.8972T>C c.7290T>C (p.Tyr2430=) c.7260T>C (p.Tyr2420=) c.7212T>C (p.Tyr2404=) c.7179T>C (p.Tyr2393=) c.7149T>C (p.Tyr2383=) c.7146T>C (p.Tyr2382=) c.7098T>C (p.Tyr2366=) c.7062T>C (p.Tyr2354=) c.7059T>C (p.Tyr2353=) c.7014T>C (p.Tyr2338=) n.7679T>C | dbSNP |
X | g.77508450A>T | CA413704016 | ATRX | c.7380T>A (p.Tyr2460Ter) c.2478T>A (p.Tyr826Ter) c.7266T>A (p.Tyr2422Ter) c.*7008T>A (n.*7008T>A) n.5700T>A c.7377T>A (p.Tyr2459Ter) c.7293T>A (p.Tyr2431Ter) c.7263T>A (p.Tyr2421Ter) c.7215T>A (p.Tyr2405Ter) c.7176T>A (p.Tyr2392Ter) c.7101T>A (p.Tyr2367Ter) n.8972T>A c.7290T>A (p.Tyr2430Ter) c.7260T>A (p.Tyr2420Ter) c.7212T>A (p.Tyr2404Ter) c.7179T>A (p.Tyr2393Ter) c.7149T>A (p.Tyr2383Ter) c.7146T>A (p.Tyr2382Ter) c.7098T>A (p.Tyr2366Ter) c.7062T>A (p.Tyr2354Ter) c.7059T>A (p.Tyr2353Ter) c.7014T>A (p.Tyr2338Ter) n.7679T>A | |
X | g.77508451T>A | CA413704018 | ATRX | c.7379A>T (p.Tyr2460Phe) c.2477A>T (p.Tyr826Phe) c.7265A>T (p.Tyr2422Phe) c.*7007A>T (n.*7007A>T) n.5699A>T c.7376A>T (p.Tyr2459Phe) c.7292A>T (p.Tyr2431Phe) c.7262A>T (p.Tyr2421Phe) c.7214A>T (p.Tyr2405Phe) c.7175A>T (p.Tyr2392Phe) c.7100A>T (p.Tyr2367Phe) n.8971A>T c.7289A>T (p.Tyr2430Phe) c.7259A>T (p.Tyr2420Phe) c.7211A>T (p.Tyr2404Phe) c.7178A>T (p.Tyr2393Phe) c.7148A>T (p.Tyr2383Phe) c.7145A>T (p.Tyr2382Phe) c.7097A>T (p.Tyr2366Phe) c.7061A>T (p.Tyr2354Phe) c.7058A>T (p.Tyr2353Phe) c.7013A>T (p.Tyr2338Phe) n.7678A>T | |
X | g.77508451T>C | CA10457391 | ATRX | c.7379A>G (p.Tyr2460Cys) c.2477A>G (p.Tyr826Cys) c.7265A>G (p.Tyr2422Cys) c.*7007A>G (n.*7007A>G) n.5699A>G c.7376A>G (p.Tyr2459Cys) c.7292A>G (p.Tyr2431Cys) c.7262A>G (p.Tyr2421Cys) c.7214A>G (p.Tyr2405Cys) c.7175A>G (p.Tyr2392Cys) c.7100A>G (p.Tyr2367Cys) n.8971A>G c.7289A>G (p.Tyr2430Cys) c.7259A>G (p.Tyr2420Cys) c.7211A>G (p.Tyr2404Cys) c.7178A>G (p.Tyr2393Cys) c.7148A>G (p.Tyr2383Cys) c.7145A>G (p.Tyr2382Cys) c.7097A>G (p.Tyr2366Cys) c.7061A>G (p.Tyr2354Cys) c.7058A>G (p.Tyr2353Cys) c.7013A>G (p.Tyr2338Cys) n.7678A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.77508451T>G | CA413704022 | ATRX | c.7379A>C (p.Tyr2460Ser) c.2477A>C (p.Tyr826Ser) c.7265A>C (p.Tyr2422Ser) c.*7007A>C (n.*7007A>C) n.5699A>C c.7376A>C (p.Tyr2459Ser) c.7292A>C (p.Tyr2431Ser) c.7262A>C (p.Tyr2421Ser) c.7214A>C (p.Tyr2405Ser) c.7175A>C (p.Tyr2392Ser) c.7100A>C (p.Tyr2367Ser) n.8971A>C c.7289A>C (p.Tyr2430Ser) c.7259A>C (p.Tyr2420Ser) c.7211A>C (p.Tyr2404Ser) c.7178A>C (p.Tyr2393Ser) c.7148A>C (p.Tyr2383Ser) c.7145A>C (p.Tyr2382Ser) c.7097A>C (p.Tyr2366Ser) c.7061A>C (p.Tyr2354Ser) c.7058A>C (p.Tyr2353Ser) c.7013A>C (p.Tyr2338Ser) n.7678A>C | dbSNP |
X | g.77508451T= | CA2438929046 | ATRX | c.7379A= (p.Tyr2460=) c.2477A= (p.Tyr826=) c.7265A= (p.Tyr2422=) c.*7007A= (n.*7007A=) n.5699A= c.7376A= (p.Tyr2459=) c.7292A= (p.Tyr2431=) c.7262A= (p.Tyr2421=) c.7214A= (p.Tyr2405=) c.7175A= (p.Tyr2392=) c.7100A= (p.Tyr2367=) n.8971A= c.7289A= (p.Tyr2430=) c.7259A= (p.Tyr2420=) c.7211A= (p.Tyr2404=) c.7178A= (p.Tyr2393=) c.7148A= (p.Tyr2383=) c.7145A= (p.Tyr2382=) c.7097A= (p.Tyr2366=) c.7061A= (p.Tyr2354=) c.7058A= (p.Tyr2353=) c.7013A= (p.Tyr2338=) n.7678A= | |
X | g.77508452A>C | CA413704025 | ATRX | c.7378T>G (p.Tyr2460Asp) c.2476T>G (p.Tyr826Asp) c.7264T>G (p.Tyr2422Asp) c.*7006T>G (n.*7006T>G) n.5698T>G c.7375T>G (p.Tyr2459Asp) c.7291T>G (p.Tyr2431Asp) c.7261T>G (p.Tyr2421Asp) c.7213T>G (p.Tyr2405Asp) c.7174T>G (p.Tyr2392Asp) c.7099T>G (p.Tyr2367Asp) n.8970T>G c.7288T>G (p.Tyr2430Asp) c.7258T>G (p.Tyr2420Asp) c.7210T>G (p.Tyr2404Asp) c.7177T>G (p.Tyr2393Asp) c.7147T>G (p.Tyr2383Asp) c.7144T>G (p.Tyr2382Asp) c.7096T>G (p.Tyr2366Asp) c.7060T>G (p.Tyr2354Asp) c.7057T>G (p.Tyr2353Asp) c.7012T>G (p.Tyr2338Asp) n.7677T>G | |
X | g.77508452A>G | CA413704026 | ATRX | c.7378T>C (p.Tyr2460His) c.2476T>C (p.Tyr826His) c.7264T>C (p.Tyr2422His) c.*7006T>C (n.*7006T>C) n.5698T>C c.7375T>C (p.Tyr2459His) c.7291T>C (p.Tyr2431His) c.7261T>C (p.Tyr2421His) c.7213T>C (p.Tyr2405His) c.7174T>C (p.Tyr2392His) c.7099T>C (p.Tyr2367His) n.8970T>C c.7288T>C (p.Tyr2430His) c.7258T>C (p.Tyr2420His) c.7210T>C (p.Tyr2404His) c.7177T>C (p.Tyr2393His) c.7147T>C (p.Tyr2383His) c.7144T>C (p.Tyr2382His) c.7096T>C (p.Tyr2366His) c.7060T>C (p.Tyr2354His) c.7057T>C (p.Tyr2353His) c.7012T>C (p.Tyr2338His) n.7677T>C | |
X | g.77508452A>T | CA413704027 | ATRX | c.7378T>A (p.Tyr2460Asn) c.2476T>A (p.Tyr826Asn) c.7264T>A (p.Tyr2422Asn) c.*7006T>A (n.*7006T>A) n.5698T>A c.7375T>A (p.Tyr2459Asn) c.7291T>A (p.Tyr2431Asn) c.7261T>A (p.Tyr2421Asn) c.7213T>A (p.Tyr2405Asn) c.7174T>A (p.Tyr2392Asn) c.7099T>A (p.Tyr2367Asn) n.8970T>A c.7288T>A (p.Tyr2430Asn) c.7258T>A (p.Tyr2420Asn) c.7210T>A (p.Tyr2404Asn) c.7177T>A (p.Tyr2393Asn) c.7147T>A (p.Tyr2383Asn) c.7144T>A (p.Tyr2382Asn) c.7096T>A (p.Tyr2366Asn) c.7060T>A (p.Tyr2354Asn) c.7057T>A (p.Tyr2353Asn) c.7012T>A (p.Tyr2338Asn) n.7677T>A | dbSNP |
X | g.77508452dup | CA2695234701 | ATRX | c.7378dup (p.Tyr2460LeufsTer?) c.2476dup (p.Tyr826LeufsTer?) c.7264dup (p.Tyr2422LeufsTer?) c.*7006dup (n.*7006dup) n.5698dup c.7375dup (p.Tyr2459LeufsTer?) c.7291dup (p.Tyr2431LeufsTer?) c.7261dup (p.Tyr2421LeufsTer?) c.7213dup (p.Tyr2405LeufsTer?) c.7174dup (p.Tyr2392LeufsTer?) c.7099dup (p.Tyr2367LeufsTer?) n.8970dup c.7288dup (p.Tyr2430LeufsTer?) c.7258dup (p.Tyr2420LeufsTer?) c.7210dup (p.Tyr2404LeufsTer?) c.7177dup (p.Tyr2393LeufsTer?) c.7147dup (p.Tyr2383LeufsTer?) c.7144dup (p.Tyr2382LeufsTer?) c.7096dup (p.Tyr2366LeufsTer?) c.7060dup (p.Tyr2354LeufsTer?) c.7057dup (p.Tyr2353LeufsTer?) c.7012dup (p.Tyr2338LeufsTer?) n.7677dup | |
X | g.77508453C>A | CA413704029 | ATRX | c.7377G>T (p.Met2459Ile) c.2475G>T (p.Met825Ile) c.7263G>T (p.Met2421Ile) c.*7005G>T (n.*7005G>T) n.5697G>T c.7374G>T (p.Met2458Ile) c.7290G>T (p.Met2430Ile) c.7260G>T (p.Met2420Ile) c.7212G>T (p.Met2404Ile) c.7173G>T (p.Met2391Ile) c.7098G>T (p.Met2366Ile) n.8969G>T c.7287G>T (p.Met2429Ile) c.7257G>T (p.Met2419Ile) c.7209G>T (p.Met2403Ile) c.7176G>T (p.Met2392Ile) c.7146G>T (p.Met2382Ile) c.7143G>T (p.Met2381Ile) c.7095G>T (p.Met2365Ile) c.7059G>T (p.Met2353Ile) c.7056G>T (p.Met2352Ile) c.7011G>T (p.Met2337Ile) n.7676G>T | |
X | g.77508453C>G | CA413704031 | ATRX | c.7377G>C (p.Met2459Ile) c.2475G>C (p.Met825Ile) c.7263G>C (p.Met2421Ile) c.*7005G>C (n.*7005G>C) n.5697G>C c.7374G>C (p.Met2458Ile) c.7290G>C (p.Met2430Ile) c.7260G>C (p.Met2420Ile) c.7212G>C (p.Met2404Ile) c.7173G>C (p.Met2391Ile) c.7098G>C (p.Met2366Ile) n.8969G>C c.7287G>C (p.Met2429Ile) c.7257G>C (p.Met2419Ile) c.7209G>C (p.Met2403Ile) c.7176G>C (p.Met2392Ile) c.7146G>C (p.Met2382Ile) c.7143G>C (p.Met2381Ile) c.7095G>C (p.Met2365Ile) c.7059G>C (p.Met2353Ile) c.7056G>C (p.Met2352Ile) c.7011G>C (p.Met2337Ile) n.7676G>C | |
X | g.77508453C>T | CA413704034 | ATRX | c.7377G>A (p.Met2459Ile) c.2475G>A (p.Met825Ile) c.7263G>A (p.Met2421Ile) c.*7005G>A (n.*7005G>A) n.5697G>A c.7374G>A (p.Met2458Ile) c.7290G>A (p.Met2430Ile) c.7260G>A (p.Met2420Ile) c.7212G>A (p.Met2404Ile) c.7173G>A (p.Met2391Ile) c.7098G>A (p.Met2366Ile) n.8969G>A c.7287G>A (p.Met2429Ile) c.7257G>A (p.Met2419Ile) c.7209G>A (p.Met2403Ile) c.7176G>A (p.Met2392Ile) c.7146G>A (p.Met2382Ile) c.7143G>A (p.Met2381Ile) c.7095G>A (p.Met2365Ile) c.7059G>A (p.Met2353Ile) c.7056G>A (p.Met2352Ile) c.7011G>A (p.Met2337Ile) n.7676G>A | ClinVar dbSNP |
X | g.77508454del | CA2695234703 | ATRX | c.7376del (p.Met2459SerfsTer21) c.2474del (p.Met825SerfsTer21) c.7262del (p.Met2421SerfsTer21) c.*7004del (n.*7004del) n.5696del c.7373del (p.Met2458SerfsTer21) c.7289del (p.Met2430SerfsTer21) c.7259del (p.Met2420SerfsTer21) c.7211del (p.Met2404SerfsTer21) c.7172del (p.Met2391SerfsTer21) c.7097del (p.Met2366SerfsTer21) n.8968del c.7286del (p.Met2429SerfsTer21) c.7256del (p.Met2419SerfsTer21) c.7208del (p.Met2403SerfsTer21) c.7175del (p.Met2392SerfsTer21) c.7145del (p.Met2382SerfsTer21) c.7142del (p.Met2381SerfsTer21) c.7094del (p.Met2365SerfsTer21) c.7058del (p.Met2353SerfsTer21) c.7055del (p.Met2352SerfsTer21) c.7010del (p.Met2337SerfsTer21) n.7675del | |
X | g.77508454A>C | CA413704037 | ATRX | c.7376T>G (p.Met2459Arg) c.2474T>G (p.Met825Arg) c.7262T>G (p.Met2421Arg) c.*7004T>G (n.*7004T>G) n.5696T>G c.7373T>G (p.Met2458Arg) c.7289T>G (p.Met2430Arg) c.7259T>G (p.Met2420Arg) c.7211T>G (p.Met2404Arg) c.7172T>G (p.Met2391Arg) c.7097T>G (p.Met2366Arg) n.8968T>G c.7286T>G (p.Met2429Arg) c.7256T>G (p.Met2419Arg) c.7208T>G (p.Met2403Arg) c.7175T>G (p.Met2392Arg) c.7145T>G (p.Met2382Arg) c.7142T>G (p.Met2381Arg) c.7094T>G (p.Met2365Arg) c.7058T>G (p.Met2353Arg) c.7055T>G (p.Met2352Arg) c.7010T>G (p.Met2337Arg) n.7675T>G | |
X | g.77508454A>G | CA413704035 | ATRX | c.7376T>C (p.Met2459Thr) c.2474T>C (p.Met825Thr) c.7262T>C (p.Met2421Thr) c.*7004T>C (n.*7004T>C) n.5696T>C c.7373T>C (p.Met2458Thr) c.7289T>C (p.Met2430Thr) c.7259T>C (p.Met2420Thr) c.7211T>C (p.Met2404Thr) c.7172T>C (p.Met2391Thr) c.7097T>C (p.Met2366Thr) n.8968T>C c.7286T>C (p.Met2429Thr) c.7256T>C (p.Met2419Thr) c.7208T>C (p.Met2403Thr) c.7175T>C (p.Met2392Thr) c.7145T>C (p.Met2382Thr) c.7142T>C (p.Met2381Thr) c.7094T>C (p.Met2365Thr) c.7058T>C (p.Met2353Thr) c.7055T>C (p.Met2352Thr) c.7010T>C (p.Met2337Thr) n.7675T>C | |
X | g.77508454A>T | CA413704036 | ATRX | c.7376T>A (p.Met2459Lys) c.2474T>A (p.Met825Lys) c.7262T>A (p.Met2421Lys) c.*7004T>A (n.*7004T>A) n.5696T>A c.7373T>A (p.Met2458Lys) c.7289T>A (p.Met2430Lys) c.7259T>A (p.Met2420Lys) c.7211T>A (p.Met2404Lys) c.7172T>A (p.Met2391Lys) c.7097T>A (p.Met2366Lys) n.8968T>A c.7286T>A (p.Met2429Lys) c.7256T>A (p.Met2419Lys) c.7208T>A (p.Met2403Lys) c.7175T>A (p.Met2392Lys) c.7145T>A (p.Met2382Lys) c.7142T>A (p.Met2381Lys) c.7094T>A (p.Met2365Lys) c.7058T>A (p.Met2353Lys) c.7055T>A (p.Met2352Lys) c.7010T>A (p.Met2337Lys) n.7675T>A | |
X | g.77508455T>A | CA413704041 | ATRX | c.7375A>T (p.Met2459Leu) c.2473A>T (p.Met825Leu) c.7261A>T (p.Met2421Leu) c.*7003A>T (n.*7003A>T) n.5695A>T c.7372A>T (p.Met2458Leu) c.7288A>T (p.Met2430Leu) c.7258A>T (p.Met2420Leu) c.7210A>T (p.Met2404Leu) c.7171A>T (p.Met2391Leu) c.7096A>T (p.Met2366Leu) n.8967A>T c.7285A>T (p.Met2429Leu) c.7255A>T (p.Met2419Leu) c.7207A>T (p.Met2403Leu) c.7174A>T (p.Met2392Leu) c.7144A>T (p.Met2382Leu) c.7141A>T (p.Met2381Leu) c.7093A>T (p.Met2365Leu) c.7057A>T (p.Met2353Leu) c.7054A>T (p.Met2352Leu) c.7009A>T (p.Met2337Leu) n.7674A>T | |
X | g.77508455T>C | CA413704043 | ATRX | c.7375A>G (p.Met2459Val) c.2473A>G (p.Met825Val) c.7261A>G (p.Met2421Val) c.*7003A>G (n.*7003A>G) n.5695A>G c.7372A>G (p.Met2458Val) c.7288A>G (p.Met2430Val) c.7258A>G (p.Met2420Val) c.7210A>G (p.Met2404Val) c.7171A>G (p.Met2391Val) c.7096A>G (p.Met2366Val) n.8967A>G c.7285A>G (p.Met2429Val) c.7255A>G (p.Met2419Val) c.7207A>G (p.Met2403Val) c.7174A>G (p.Met2392Val) c.7144A>G (p.Met2382Val) c.7141A>G (p.Met2381Val) c.7093A>G (p.Met2365Val) c.7057A>G (p.Met2353Val) c.7054A>G (p.Met2352Val) c.7009A>G (p.Met2337Val) n.7674A>G | gnomAD v4 |
X | g.77508455T>G | CA413704045 | ATRX | c.7375A>C (p.Met2459Leu) c.2473A>C (p.Met825Leu) c.7261A>C (p.Met2421Leu) c.*7003A>C (n.*7003A>C) n.5695A>C c.7372A>C (p.Met2458Leu) c.7288A>C (p.Met2430Leu) c.7258A>C (p.Met2420Leu) c.7210A>C (p.Met2404Leu) c.7171A>C (p.Met2391Leu) c.7096A>C (p.Met2366Leu) n.8967A>C c.7285A>C (p.Met2429Leu) c.7255A>C (p.Met2419Leu) c.7207A>C (p.Met2403Leu) c.7174A>C (p.Met2392Leu) c.7144A>C (p.Met2382Leu) c.7141A>C (p.Met2381Leu) c.7093A>C (p.Met2365Leu) c.7057A>C (p.Met2353Leu) c.7054A>C (p.Met2352Leu) c.7009A>C (p.Met2337Leu) n.7674A>C | gnomAD v4 |
X | g.77508456T>A | CA517374070 | ATRX | c.7374A>T (p.Gly2458=) c.2472A>T (p.Gly824=) c.7260A>T (p.Gly2420=) c.*7002A>T (n.*7002A>T) n.5694A>T c.7371A>T (p.Gly2457=) c.7287A>T (p.Gly2429=) c.7257A>T (p.Gly2419=) c.7209A>T (p.Gly2403=) c.7170A>T (p.Gly2390=) c.7095A>T (p.Gly2365=) n.8966A>T c.7284A>T (p.Gly2428=) c.7254A>T (p.Gly2418=) c.7206A>T (p.Gly2402=) c.7173A>T (p.Gly2391=) c.7143A>T (p.Gly2381=) c.7140A>T (p.Gly2380=) c.7092A>T (p.Gly2364=) c.7056A>T (p.Gly2352=) c.7053A>T (p.Gly2351=) c.7008A>T (p.Gly2336=) n.7673A>T | |
X | g.77508456T>C | CA517374066 | ATRX | c.7374A>G (p.Gly2458=) c.2472A>G (p.Gly824=) c.7260A>G (p.Gly2420=) c.*7002A>G (n.*7002A>G) n.5694A>G c.7371A>G (p.Gly2457=) c.7287A>G (p.Gly2429=) c.7257A>G (p.Gly2419=) c.7209A>G (p.Gly2403=) c.7170A>G (p.Gly2390=) c.7095A>G (p.Gly2365=) n.8966A>G c.7284A>G (p.Gly2428=) c.7254A>G (p.Gly2418=) c.7206A>G (p.Gly2402=) c.7173A>G (p.Gly2391=) c.7143A>G (p.Gly2381=) c.7140A>G (p.Gly2380=) c.7092A>G (p.Gly2364=) c.7056A>G (p.Gly2352=) c.7053A>G (p.Gly2351=) c.7008A>G (p.Gly2336=) n.7673A>G | |
X | g.77508456T>G | CA517374068 | ATRX | c.7374A>C (p.Gly2458=) c.2472A>C (p.Gly824=) c.7260A>C (p.Gly2420=) c.*7002A>C (n.*7002A>C) n.5694A>C c.7371A>C (p.Gly2457=) c.7287A>C (p.Gly2429=) c.7257A>C (p.Gly2419=) c.7209A>C (p.Gly2403=) c.7170A>C (p.Gly2390=) c.7095A>C (p.Gly2365=) n.8966A>C c.7284A>C (p.Gly2428=) c.7254A>C (p.Gly2418=) c.7206A>C (p.Gly2402=) c.7173A>C (p.Gly2391=) c.7143A>C (p.Gly2381=) c.7140A>C (p.Gly2380=) c.7092A>C (p.Gly2364=) c.7056A>C (p.Gly2352=) c.7053A>C (p.Gly2351=) c.7008A>C (p.Gly2336=) n.7673A>C | |
X | g.77508457C>A | CA413704048 | ATRX | c.7373G>T (p.Gly2458Val) c.2471G>T (p.Gly824Val) c.7259G>T (p.Gly2420Val) c.*7001G>T (n.*7001G>T) n.5693G>T c.7370G>T (p.Gly2457Val) c.7286G>T (p.Gly2429Val) c.7256G>T (p.Gly2419Val) c.7208G>T (p.Gly2403Val) c.7169G>T (p.Gly2390Val) c.7094G>T (p.Gly2365Val) n.8965G>T c.7283G>T (p.Gly2428Val) c.7253G>T (p.Gly2418Val) c.7205G>T (p.Gly2402Val) c.7172G>T (p.Gly2391Val) c.7142G>T (p.Gly2381Val) c.7139G>T (p.Gly2380Val) c.7091G>T (p.Gly2364Val) c.7055G>T (p.Gly2352Val) c.7052G>T (p.Gly2351Val) c.7007G>T (p.Gly2336Val) n.7672G>T | ClinVar |
X | g.77508457C>G | CA413704050 | ATRX | c.7373G>C (p.Gly2458Ala) c.2471G>C (p.Gly824Ala) c.7259G>C (p.Gly2420Ala) c.*7001G>C (n.*7001G>C) n.5693G>C c.7370G>C (p.Gly2457Ala) c.7286G>C (p.Gly2429Ala) c.7256G>C (p.Gly2419Ala) c.7208G>C (p.Gly2403Ala) c.7169G>C (p.Gly2390Ala) c.7094G>C (p.Gly2365Ala) n.8965G>C c.7283G>C (p.Gly2428Ala) c.7253G>C (p.Gly2418Ala) c.7205G>C (p.Gly2402Ala) c.7172G>C (p.Gly2391Ala) c.7142G>C (p.Gly2381Ala) c.7139G>C (p.Gly2380Ala) c.7091G>C (p.Gly2364Ala) c.7055G>C (p.Gly2352Ala) c.7052G>C (p.Gly2351Ala) c.7007G>C (p.Gly2336Ala) n.7672G>C | dbSNP |
X | g.77508457C>T | CA413704053 | ATRX | c.7373G>A (p.Gly2458Glu) c.2471G>A (p.Gly824Glu) c.7259G>A (p.Gly2420Glu) c.*7001G>A (n.*7001G>A) n.5693G>A c.7370G>A (p.Gly2457Glu) c.7286G>A (p.Gly2429Glu) c.7256G>A (p.Gly2419Glu) c.7208G>A (p.Gly2403Glu) c.7169G>A (p.Gly2390Glu) c.7094G>A (p.Gly2365Glu) n.8965G>A c.7283G>A (p.Gly2428Glu) c.7253G>A (p.Gly2418Glu) c.7205G>A (p.Gly2402Glu) c.7172G>A (p.Gly2391Glu) c.7142G>A (p.Gly2381Glu) c.7139G>A (p.Gly2380Glu) c.7091G>A (p.Gly2364Glu) c.7055G>A (p.Gly2352Glu) c.7052G>A (p.Gly2351Glu) c.7007G>A (p.Gly2336Glu) n.7672G>A | dbSNP |
X | g.77508458del | CA2738724190 | ATRX | c.7373del (p.Gly2458GlufsTer22) c.2471del (p.Gly824GlufsTer22) c.7259del (p.Gly2420GlufsTer22) c.*7001del (n.*7001del) n.5693del c.7370del (p.Gly2457GlufsTer22) c.7286del (p.Gly2429GlufsTer22) c.7256del (p.Gly2419GlufsTer22) c.7208del (p.Gly2403GlufsTer22) c.7169del (p.Gly2390GlufsTer22) c.7094del (p.Gly2365GlufsTer22) n.8965del c.7283del (p.Gly2428GlufsTer22) c.7253del (p.Gly2418GlufsTer22) c.7205del (p.Gly2402GlufsTer22) c.7172del (p.Gly2391GlufsTer22) c.7142del (p.Gly2381GlufsTer22) c.7139del (p.Gly2380GlufsTer22) c.7091del (p.Gly2364GlufsTer22) c.7055del (p.Gly2352GlufsTer22) c.7052del (p.Gly2351GlufsTer22) c.7007del (p.Gly2336GlufsTer22) n.7672del | dbSNP |
X | g.77508458C>A | CA413704062 | ATRX | c.7372G>T (p.Gly2458Ter) c.2470G>T (p.Gly824Ter) c.7258G>T (p.Gly2420Ter) c.*7000G>T (n.*7000G>T) n.5692G>T c.7369G>T (p.Gly2457Ter) c.7285G>T (p.Gly2429Ter) c.7255G>T (p.Gly2419Ter) c.7207G>T (p.Gly2403Ter) c.7168G>T (p.Gly2390Ter) c.7093G>T (p.Gly2365Ter) n.8964G>T c.7282G>T (p.Gly2428Ter) c.7252G>T (p.Gly2418Ter) c.7204G>T (p.Gly2402Ter) c.7171G>T (p.Gly2391Ter) c.7141G>T (p.Gly2381Ter) c.7138G>T (p.Gly2380Ter) c.7090G>T (p.Gly2364Ter) c.7054G>T (p.Gly2352Ter) c.7051G>T (p.Gly2351Ter) c.7006G>T (p.Gly2336Ter) n.7671G>T | |
X | g.77508458C>G | CA413704059 | ATRX | c.7372G>C (p.Gly2458Arg) c.2470G>C (p.Gly824Arg) c.7258G>C (p.Gly2420Arg) c.*7000G>C (n.*7000G>C) n.5692G>C c.7369G>C (p.Gly2457Arg) c.7285G>C (p.Gly2429Arg) c.7255G>C (p.Gly2419Arg) c.7207G>C (p.Gly2403Arg) c.7168G>C (p.Gly2390Arg) c.7093G>C (p.Gly2365Arg) n.8964G>C c.7282G>C (p.Gly2428Arg) c.7252G>C (p.Gly2418Arg) c.7204G>C (p.Gly2402Arg) c.7171G>C (p.Gly2391Arg) c.7141G>C (p.Gly2381Arg) c.7138G>C (p.Gly2380Arg) c.7090G>C (p.Gly2364Arg) c.7054G>C (p.Gly2352Arg) c.7051G>C (p.Gly2351Arg) c.7006G>C (p.Gly2336Arg) n.7671G>C | |
X | g.77508458C>T | CA413704057 | ATRX | c.7372G>A (p.Gly2458Arg) c.2470G>A (p.Gly824Arg) c.7258G>A (p.Gly2420Arg) c.*7000G>A (n.*7000G>A) n.5692G>A c.7369G>A (p.Gly2457Arg) c.7285G>A (p.Gly2429Arg) c.7255G>A (p.Gly2419Arg) c.7207G>A (p.Gly2403Arg) c.7168G>A (p.Gly2390Arg) c.7093G>A (p.Gly2365Arg) n.8964G>A c.7282G>A (p.Gly2428Arg) c.7252G>A (p.Gly2418Arg) c.7204G>A (p.Gly2402Arg) c.7171G>A (p.Gly2391Arg) c.7141G>A (p.Gly2381Arg) c.7138G>A (p.Gly2380Arg) c.7090G>A (p.Gly2364Arg) c.7054G>A (p.Gly2352Arg) c.7051G>A (p.Gly2351Arg) c.7006G>A (p.Gly2336Arg) n.7671G>A | dbSNP COSMIC COSMIC |
X | g.77508461_77508462del | CA2821942719 | ATRX | c.7371_7372del (p.Gly2458AsnfsTer?) c.2469_2470del (p.Gly824AsnfsTer?) c.7257_7258del (p.Gly2420AsnfsTer?) c.*6999_*7000del (n.*6999_*7000del) n.5691_5692del c.7368_7369del (p.Gly2457AsnfsTer?) c.7284_7285del (p.Gly2429AsnfsTer?) c.7254_7255del (p.Gly2419AsnfsTer?) c.7206_7207del (p.Gly2403AsnfsTer?) c.7167_7168del (p.Gly2390AsnfsTer?) c.7092_7093del (p.Gly2365AsnfsTer?) n.8963_8964del c.7281_7282del (p.Gly2428AsnfsTer?) c.7251_7252del (p.Gly2418AsnfsTer?) c.7203_7204del (p.Gly2402AsnfsTer?) c.7170_7171del (p.Gly2391AsnfsTer?) c.7140_7141del (p.Gly2381AsnfsTer?) c.7137_7138del (p.Gly2380AsnfsTer?) c.7089_7090del (p.Gly2364AsnfsTer?) c.7053_7054del (p.Gly2352AsnfsTer?) c.7050_7051del (p.Gly2351AsnfsTer?) c.7005_7006del (p.Gly2336AsnfsTer?) n.7670_7671del | |
X | g.77508459T>A | CA413704065 | ATRX | c.7371A>T (p.Arg2457Ser) c.2469A>T (p.Arg823Ser) c.7257A>T (p.Arg2419Ser) c.*6999A>T (n.*6999A>T) n.5691A>T c.7368A>T (p.Arg2456Ser) c.7284A>T (p.Arg2428Ser) c.7254A>T (p.Arg2418Ser) c.7206A>T (p.Arg2402Ser) c.7167A>T (p.Arg2389Ser) c.7092A>T (p.Arg2364Ser) n.8963A>T c.7281A>T (p.Arg2427Ser) c.7251A>T (p.Arg2417Ser) c.7203A>T (p.Arg2401Ser) c.7170A>T (p.Arg2390Ser) c.7140A>T (p.Arg2380Ser) c.7137A>T (p.Arg2379Ser) c.7089A>T (p.Arg2363Ser) c.7053A>T (p.Arg2351Ser) c.7050A>T (p.Arg2350Ser) c.7005A>T (p.Arg2335Ser) n.7670A>T | |
X | g.77508459T>C | CA517374072 | ATRX | c.7371A>G (p.Arg2457=) c.2469A>G (p.Arg823=) c.7257A>G (p.Arg2419=) c.*6999A>G (n.*6999A>G) n.5691A>G c.7368A>G (p.Arg2456=) c.7284A>G (p.Arg2428=) c.7254A>G (p.Arg2418=) c.7206A>G (p.Arg2402=) c.7167A>G (p.Arg2389=) c.7092A>G (p.Arg2364=) n.8963A>G c.7281A>G (p.Arg2427=) c.7251A>G (p.Arg2417=) c.7203A>G (p.Arg2401=) c.7170A>G (p.Arg2390=) c.7140A>G (p.Arg2380=) c.7137A>G (p.Arg2379=) c.7089A>G (p.Arg2363=) c.7053A>G (p.Arg2351=) c.7050A>G (p.Arg2350=) c.7005A>G (p.Arg2335=) n.7670A>G | |
X | g.77508459T>G | CA413704068 | ATRX | c.7371A>C (p.Arg2457Ser) c.2469A>C (p.Arg823Ser) c.7257A>C (p.Arg2419Ser) c.*6999A>C (n.*6999A>C) n.5691A>C c.7368A>C (p.Arg2456Ser) c.7284A>C (p.Arg2428Ser) c.7254A>C (p.Arg2418Ser) c.7206A>C (p.Arg2402Ser) c.7167A>C (p.Arg2389Ser) c.7092A>C (p.Arg2364Ser) n.8963A>C c.7281A>C (p.Arg2427Ser) c.7251A>C (p.Arg2417Ser) c.7203A>C (p.Arg2401Ser) c.7170A>C (p.Arg2390Ser) c.7140A>C (p.Arg2380Ser) c.7137A>C (p.Arg2379Ser) c.7089A>C (p.Arg2363Ser) c.7053A>C (p.Arg2351Ser) c.7050A>C (p.Arg2350Ser) c.7005A>C (p.Arg2335Ser) n.7670A>C | |
X | g.77508460_77508464del | CA2695234704 | ATRX | c.7367_7371del (p.Met2456ArgfsTer?) c.2465_2469del (p.Met822ArgfsTer?) c.7253_7257del (p.Met2418ArgfsTer?) c.*6995_*6999del (n.*6995_*6999del) n.5687_5691del c.7364_7368del (p.Met2455ArgfsTer?) c.7280_7284del (p.Met2427ArgfsTer?) c.7250_7254del (p.Met2417ArgfsTer?) c.7202_7206del (p.Met2401ArgfsTer?) c.7163_7167del (p.Met2388ArgfsTer?) c.7088_7092del (p.Met2363ArgfsTer?) n.8959_8963del c.7277_7281del (p.Met2426ArgfsTer?) c.7247_7251del (p.Met2416ArgfsTer?) c.7199_7203del (p.Met2400ArgfsTer?) c.7166_7170del (p.Met2389ArgfsTer?) c.7136_7140del (p.Met2379ArgfsTer?) c.7133_7137del (p.Met2378ArgfsTer?) c.7085_7089del (p.Met2362ArgfsTer?) c.7049_7053del (p.Met2350ArgfsTer?) c.7046_7050del (p.Met2349ArgfsTer?) c.7001_7005del (p.Met2334ArgfsTer?) n.7666_7670del | |
X | g.77508460C>A | CA413704072 | ATRX | c.7370G>T (p.Arg2457Ile) c.2468G>T (p.Arg823Ile) c.7256G>T (p.Arg2419Ile) c.*6998G>T (n.*6998G>T) n.5690G>T c.7367G>T (p.Arg2456Ile) c.7283G>T (p.Arg2428Ile) c.7253G>T (p.Arg2418Ile) c.7205G>T (p.Arg2402Ile) c.7166G>T (p.Arg2389Ile) c.7091G>T (p.Arg2364Ile) n.8962G>T c.7280G>T (p.Arg2427Ile) c.7250G>T (p.Arg2417Ile) c.7202G>T (p.Arg2401Ile) c.7169G>T (p.Arg2390Ile) c.7139G>T (p.Arg2380Ile) c.7136G>T (p.Arg2379Ile) c.7088G>T (p.Arg2363Ile) c.7052G>T (p.Arg2351Ile) c.7049G>T (p.Arg2350Ile) c.7004G>T (p.Arg2335Ile) n.7669G>T | |
X | g.77508460C>G | CA413704074 | ATRX | c.7370G>C (p.Arg2457Thr) c.2468G>C (p.Arg823Thr) c.7256G>C (p.Arg2419Thr) c.*6998G>C (n.*6998G>C) n.5690G>C c.7367G>C (p.Arg2456Thr) c.7283G>C (p.Arg2428Thr) c.7253G>C (p.Arg2418Thr) c.7205G>C (p.Arg2402Thr) c.7166G>C (p.Arg2389Thr) c.7091G>C (p.Arg2364Thr) n.8962G>C c.7280G>C (p.Arg2427Thr) c.7250G>C (p.Arg2417Thr) c.7202G>C (p.Arg2401Thr) c.7169G>C (p.Arg2390Thr) c.7139G>C (p.Arg2380Thr) c.7136G>C (p.Arg2379Thr) c.7088G>C (p.Arg2363Thr) c.7052G>C (p.Arg2351Thr) c.7049G>C (p.Arg2350Thr) c.7004G>C (p.Arg2335Thr) n.7669G>C | dbSNP |
X | g.77508460C>T | CA413704076 | ATRX | c.7370G>A (p.Arg2457Lys) c.2468G>A (p.Arg823Lys) c.7256G>A (p.Arg2419Lys) c.*6998G>A (n.*6998G>A) n.5690G>A c.7367G>A (p.Arg2456Lys) c.7283G>A (p.Arg2428Lys) c.7253G>A (p.Arg2418Lys) c.7205G>A (p.Arg2402Lys) c.7166G>A (p.Arg2389Lys) c.7091G>A (p.Arg2364Lys) n.8962G>A c.7280G>A (p.Arg2427Lys) c.7250G>A (p.Arg2417Lys) c.7202G>A (p.Arg2401Lys) c.7169G>A (p.Arg2390Lys) c.7139G>A (p.Arg2380Lys) c.7136G>A (p.Arg2379Lys) c.7088G>A (p.Arg2363Lys) c.7052G>A (p.Arg2351Lys) c.7049G>A (p.Arg2350Lys) c.7004G>A (p.Arg2335Lys) n.7669G>A | dbSNP |
X | g.77508461T>A | CA413704079 | ATRX | c.7369A>T (p.Arg2457Ter) c.2467A>T (p.Arg823Ter) c.7255A>T (p.Arg2419Ter) c.*6997A>T (n.*6997A>T) n.5689A>T c.7366A>T (p.Arg2456Ter) c.7282A>T (p.Arg2428Ter) c.7252A>T (p.Arg2418Ter) c.7204A>T (p.Arg2402Ter) c.7165A>T (p.Arg2389Ter) c.7090A>T (p.Arg2364Ter) n.8961A>T c.7279A>T (p.Arg2427Ter) c.7249A>T (p.Arg2417Ter) c.7201A>T (p.Arg2401Ter) c.7168A>T (p.Arg2390Ter) c.7138A>T (p.Arg2380Ter) c.7135A>T (p.Arg2379Ter) c.7087A>T (p.Arg2363Ter) c.7051A>T (p.Arg2351Ter) c.7048A>T (p.Arg2350Ter) c.7003A>T (p.Arg2335Ter) n.7668A>T | |
X | g.77508461T>C | CA413704082 | ATRX | c.7369A>G (p.Arg2457Gly) c.2467A>G (p.Arg823Gly) c.7255A>G (p.Arg2419Gly) c.*6997A>G (n.*6997A>G) n.5689A>G c.7366A>G (p.Arg2456Gly) c.7282A>G (p.Arg2428Gly) c.7252A>G (p.Arg2418Gly) c.7204A>G (p.Arg2402Gly) c.7165A>G (p.Arg2389Gly) c.7090A>G (p.Arg2364Gly) n.8961A>G c.7279A>G (p.Arg2427Gly) c.7249A>G (p.Arg2417Gly) c.7201A>G (p.Arg2401Gly) c.7168A>G (p.Arg2390Gly) c.7138A>G (p.Arg2380Gly) c.7135A>G (p.Arg2379Gly) c.7087A>G (p.Arg2363Gly) c.7051A>G (p.Arg2351Gly) c.7048A>G (p.Arg2350Gly) c.7003A>G (p.Arg2335Gly) n.7668A>G | dbSNP |
X | g.77508461T>G | CA517374074 | ATRX | c.7369A>C (p.Arg2457=) c.2467A>C (p.Arg823=) c.7255A>C (p.Arg2419=) c.*6997A>C (n.*6997A>C) n.5689A>C c.7366A>C (p.Arg2456=) c.7282A>C (p.Arg2428=) c.7252A>C (p.Arg2418=) c.7204A>C (p.Arg2402=) c.7165A>C (p.Arg2389=) c.7090A>C (p.Arg2364=) n.8961A>C c.7279A>C (p.Arg2427=) c.7249A>C (p.Arg2417=) c.7201A>C (p.Arg2401=) c.7168A>C (p.Arg2390=) c.7138A>C (p.Arg2380=) c.7135A>C (p.Arg2379=) c.7087A>C (p.Arg2363=) c.7051A>C (p.Arg2351=) c.7048A>C (p.Arg2350=) c.7003A>C (p.Arg2335=) n.7668A>C | gnomAD v4 |
X | g.77508462C>A | CA413704085 | ATRX | c.7368G>T (p.Met2456Ile) c.2466G>T (p.Met822Ile) c.7254G>T (p.Met2418Ile) c.*6996G>T (n.*6996G>T) n.5688G>T c.7365G>T (p.Met2455Ile) c.7281G>T (p.Met2427Ile) c.7251G>T (p.Met2417Ile) c.7203G>T (p.Met2401Ile) c.7164G>T (p.Met2388Ile) c.7089G>T (p.Met2363Ile) n.8960G>T c.7278G>T (p.Met2426Ile) c.7248G>T (p.Met2416Ile) c.7200G>T (p.Met2400Ile) c.7167G>T (p.Met2389Ile) c.7137G>T (p.Met2379Ile) c.7134G>T (p.Met2378Ile) c.7086G>T (p.Met2362Ile) c.7050G>T (p.Met2350Ile) c.7047G>T (p.Met2349Ile) c.7002G>T (p.Met2334Ile) n.7667G>T | dbSNP |
X | g.77508462C>G | CA413704094 | ATRX | c.7368G>C (p.Met2456Ile) c.2466G>C (p.Met822Ile) c.7254G>C (p.Met2418Ile) c.*6996G>C (n.*6996G>C) n.5688G>C c.7365G>C (p.Met2455Ile) c.7281G>C (p.Met2427Ile) c.7251G>C (p.Met2417Ile) c.7203G>C (p.Met2401Ile) c.7164G>C (p.Met2388Ile) c.7089G>C (p.Met2363Ile) n.8960G>C c.7278G>C (p.Met2426Ile) c.7248G>C (p.Met2416Ile) c.7200G>C (p.Met2400Ile) c.7167G>C (p.Met2389Ile) c.7137G>C (p.Met2379Ile) c.7134G>C (p.Met2378Ile) c.7086G>C (p.Met2362Ile) c.7050G>C (p.Met2350Ile) c.7047G>C (p.Met2349Ile) c.7002G>C (p.Met2334Ile) n.7667G>C | |
X | g.77508462C>T | CA413704089 | ATRX | c.7368G>A (p.Met2456Ile) c.2466G>A (p.Met822Ile) c.7254G>A (p.Met2418Ile) c.*6996G>A (n.*6996G>A) n.5688G>A c.7365G>A (p.Met2455Ile) c.7281G>A (p.Met2427Ile) c.7251G>A (p.Met2417Ile) c.7203G>A (p.Met2401Ile) c.7164G>A (p.Met2388Ile) c.7089G>A (p.Met2363Ile) n.8960G>A c.7278G>A (p.Met2426Ile) c.7248G>A (p.Met2416Ile) c.7200G>A (p.Met2400Ile) c.7167G>A (p.Met2389Ile) c.7137G>A (p.Met2379Ile) c.7134G>A (p.Met2378Ile) c.7086G>A (p.Met2362Ile) c.7050G>A (p.Met2350Ile) c.7047G>A (p.Met2349Ile) c.7002G>A (p.Met2334Ile) n.7667G>A | ClinVar dbSNP |
X | g.77508462_77508464delinsCAT | CA2438929047 | ATRX | c.7366_7368delinsATG (p.Met2456=) c.2464_2466delinsATG (p.Met822=) c.7252_7254delinsATG (p.Met2418=) c.*6994_*6996delinsATG (n.*6994_*6996delinsATG) n.5686_5688delinsATG c.7363_7365delinsATG (p.Met2455=) c.7279_7281delinsATG (p.Met2427=) c.7249_7251delinsATG (p.Met2417=) c.7201_7203delinsATG (p.Met2401=) c.7162_7164delinsATG (p.Met2388=) c.7087_7089delinsATG (p.Met2363=) n.8958_8960delinsATG c.7276_7278delinsATG (p.Met2426=) c.7246_7248delinsATG (p.Met2416=) c.7198_7200delinsATG (p.Met2400=) c.7165_7167delinsATG (p.Met2389=) c.7135_7137delinsATG (p.Met2379=) c.7132_7134delinsATG (p.Met2378=) c.7084_7086delinsATG (p.Met2362=) c.7048_7050delinsATG (p.Met2350=) c.7045_7047delinsATG (p.Met2349=) c.7000_7002delinsATG (p.Met2334=) n.7665_7667delinsATG | |
X | g.77508463A>C | CA413704098 | ATRX | c.7367T>G (p.Met2456Arg) c.2465T>G (p.Met822Arg) c.7253T>G (p.Met2418Arg) c.*6995T>G (n.*6995T>G) n.5687T>G c.7364T>G (p.Met2455Arg) c.7280T>G (p.Met2427Arg) c.7250T>G (p.Met2417Arg) c.7202T>G (p.Met2401Arg) c.7163T>G (p.Met2388Arg) c.7088T>G (p.Met2363Arg) n.8959T>G c.7277T>G (p.Met2426Arg) c.7247T>G (p.Met2416Arg) c.7199T>G (p.Met2400Arg) c.7166T>G (p.Met2389Arg) c.7136T>G (p.Met2379Arg) c.7133T>G (p.Met2378Arg) c.7085T>G (p.Met2362Arg) c.7049T>G (p.Met2350Arg) c.7046T>G (p.Met2349Arg) c.7001T>G (p.Met2334Arg) n.7666T>G | ClinVar |
X | g.77508463A>G | CA413704101 | ATRX | c.7367T>C (p.Met2456Thr) c.2465T>C (p.Met822Thr) c.7253T>C (p.Met2418Thr) c.*6995T>C (n.*6995T>C) n.5687T>C c.7364T>C (p.Met2455Thr) c.7280T>C (p.Met2427Thr) c.7250T>C (p.Met2417Thr) c.7202T>C (p.Met2401Thr) c.7163T>C (p.Met2388Thr) c.7088T>C (p.Met2363Thr) n.8959T>C c.7277T>C (p.Met2426Thr) c.7247T>C (p.Met2416Thr) c.7199T>C (p.Met2400Thr) c.7166T>C (p.Met2389Thr) c.7136T>C (p.Met2379Thr) c.7133T>C (p.Met2378Thr) c.7085T>C (p.Met2362Thr) c.7049T>C (p.Met2350Thr) c.7046T>C (p.Met2349Thr) c.7001T>C (p.Met2334Thr) n.7666T>C | ClinVar dbSNP gnomAD v4 |
X | g.77508463A>T | CA413704104 | ATRX | c.7367T>A (p.Met2456Lys) c.2465T>A (p.Met822Lys) c.7253T>A (p.Met2418Lys) c.*6995T>A (n.*6995T>A) n.5687T>A c.7364T>A (p.Met2455Lys) c.7280T>A (p.Met2427Lys) c.7250T>A (p.Met2417Lys) c.7202T>A (p.Met2401Lys) c.7163T>A (p.Met2388Lys) c.7088T>A (p.Met2363Lys) n.8959T>A c.7277T>A (p.Met2426Lys) c.7247T>A (p.Met2416Lys) c.7199T>A (p.Met2400Lys) c.7166T>A (p.Met2389Lys) c.7136T>A (p.Met2379Lys) c.7133T>A (p.Met2378Lys) c.7085T>A (p.Met2362Lys) c.7049T>A (p.Met2350Lys) c.7046T>A (p.Met2349Lys) c.7001T>A (p.Met2334Lys) n.7666T>A | dbSNP gnomAD v4 |
X | g.77508465_77508466del | CA275226 | ATRX | c.7366_7367del (p.Met2456GlufsTer?) c.2464_2465del (p.Met822GlufsTer?) c.7252_7253del (p.Met2418GlufsTer?) c.*6994_*6995del (n.*6994_*6995del) n.5686_5687del c.7363_7364del (p.Met2455GlufsTer?) c.7279_7280del (p.Met2427GlufsTer?) c.7249_7250del (p.Met2417GlufsTer?) c.7201_7202del (p.Met2401GlufsTer?) c.7162_7163del (p.Met2388GlufsTer?) c.7087_7088del (p.Met2363GlufsTer?) n.8958_8959del c.7276_7277del (p.Met2426GlufsTer?) c.7246_7247del (p.Met2416GlufsTer?) c.7198_7199del (p.Met2400GlufsTer?) c.7165_7166del (p.Met2389GlufsTer?) c.7135_7136del (p.Met2379GlufsTer?) c.7132_7133del (p.Met2378GlufsTer?) c.7084_7085del (p.Met2362GlufsTer?) c.7048_7049del (p.Met2350GlufsTer?) c.7045_7046del (p.Met2349GlufsTer?) c.7000_7001del (p.Met2334GlufsTer?) n.7665_7666del | ClinVar dbSNP |
X | g.77508464T>A | CA413704110 | ATRX | c.7366A>T (p.Met2456Leu) c.2464A>T (p.Met822Leu) c.7252A>T (p.Met2418Leu) c.*6994A>T (n.*6994A>T) n.5686A>T c.7363A>T (p.Met2455Leu) c.7279A>T (p.Met2427Leu) c.7249A>T (p.Met2417Leu) c.7201A>T (p.Met2401Leu) c.7162A>T (p.Met2388Leu) c.7087A>T (p.Met2363Leu) n.8958A>T c.7276A>T (p.Met2426Leu) c.7246A>T (p.Met2416Leu) c.7198A>T (p.Met2400Leu) c.7165A>T (p.Met2389Leu) c.7135A>T (p.Met2379Leu) c.7132A>T (p.Met2378Leu) c.7084A>T (p.Met2362Leu) c.7048A>T (p.Met2350Leu) c.7045A>T (p.Met2349Leu) c.7000A>T (p.Met2334Leu) n.7665A>T | |
X | g.77508464T>C | CA413704113 | ATRX | c.7366A>G (p.Met2456Val) c.2464A>G (p.Met822Val) c.7252A>G (p.Met2418Val) c.*6994A>G (n.*6994A>G) n.5686A>G c.7363A>G (p.Met2455Val) c.7279A>G (p.Met2427Val) c.7249A>G (p.Met2417Val) c.7201A>G (p.Met2401Val) c.7162A>G (p.Met2388Val) c.7087A>G (p.Met2363Val) n.8958A>G c.7276A>G (p.Met2426Val) c.7246A>G (p.Met2416Val) c.7198A>G (p.Met2400Val) c.7165A>G (p.Met2389Val) c.7135A>G (p.Met2379Val) c.7132A>G (p.Met2378Val) c.7084A>G (p.Met2362Val) c.7048A>G (p.Met2350Val) c.7045A>G (p.Met2349Val) c.7000A>G (p.Met2334Val) n.7665A>G | gnomAD v4 |
X | g.77508464T>G | CA413704115 | ATRX | c.7366A>C (p.Met2456Leu) c.2464A>C (p.Met822Leu) c.7252A>C (p.Met2418Leu) c.*6994A>C (n.*6994A>C) n.5686A>C c.7363A>C (p.Met2455Leu) c.7279A>C (p.Met2427Leu) c.7249A>C (p.Met2417Leu) c.7201A>C (p.Met2401Leu) c.7162A>C (p.Met2388Leu) c.7087A>C (p.Met2363Leu) n.8958A>C c.7276A>C (p.Met2426Leu) c.7246A>C (p.Met2416Leu) c.7198A>C (p.Met2400Leu) c.7165A>C (p.Met2389Leu) c.7135A>C (p.Met2379Leu) c.7132A>C (p.Met2378Leu) c.7084A>C (p.Met2362Leu) c.7048A>C (p.Met2350Leu) c.7045A>C (p.Met2349Leu) c.7000A>C (p.Met2334Leu) n.7665A>C | |
X | g.77508464dup | CA2580101392 | ATRX | c.7366dup (p.Met2456AsnfsTer?) c.2464dup (p.Met822AsnfsTer?) c.7252dup (p.Met2418AsnfsTer?) c.*6994dup (n.*6994dup) n.5686dup c.7363dup (p.Met2455AsnfsTer?) c.7279dup (p.Met2427AsnfsTer?) c.7249dup (p.Met2417AsnfsTer?) c.7201dup (p.Met2401AsnfsTer?) c.7162dup (p.Met2388AsnfsTer?) c.7087dup (p.Met2363AsnfsTer?) n.8958dup c.7276dup (p.Met2426AsnfsTer?) c.7246dup (p.Met2416AsnfsTer?) c.7198dup (p.Met2400AsnfsTer?) c.7165dup (p.Met2389AsnfsTer?) c.7135dup (p.Met2379AsnfsTer?) c.7132dup (p.Met2378AsnfsTer?) c.7084dup (p.Met2362AsnfsTer?) c.7048dup (p.Met2350AsnfsTer?) c.7045dup (p.Met2349AsnfsTer?) c.7000dup (p.Met2334AsnfsTer?) n.7665dup | ClinVar |
X | g.77508465A>C | CA413704118 | ATRX | c.7365T>G (p.Asp2455Glu) c.2463T>G (p.Asp821Glu) c.7251T>G (p.Asp2417Glu) c.*6993T>G (n.*6993T>G) n.5685T>G c.7362T>G (p.Asp2454Glu) c.7278T>G (p.Asp2426Glu) c.7248T>G (p.Asp2416Glu) c.7200T>G (p.Asp2400Glu) c.7161T>G (p.Asp2387Glu) c.7086T>G (p.Asp2362Glu) n.8957T>G c.7275T>G (p.Asp2425Glu) c.7245T>G (p.Asp2415Glu) c.7197T>G (p.Asp2399Glu) c.7164T>G (p.Asp2388Glu) c.7134T>G (p.Asp2378Glu) c.7131T>G (p.Asp2377Glu) c.7083T>G (p.Asp2361Glu) c.7047T>G (p.Asp2349Glu) c.7044T>G (p.Asp2348Glu) c.6999T>G (p.Asp2333Glu) n.7664T>G | |
X | g.77508465A>G | CA517374079 | ATRX | c.7365T>C (p.Asp2455=) c.2463T>C (p.Asp821=) c.7251T>C (p.Asp2417=) c.*6993T>C (n.*6993T>C) n.5685T>C c.7362T>C (p.Asp2454=) c.7278T>C (p.Asp2426=) c.7248T>C (p.Asp2416=) c.7200T>C (p.Asp2400=) c.7161T>C (p.Asp2387=) c.7086T>C (p.Asp2362=) n.8957T>C c.7275T>C (p.Asp2425=) c.7245T>C (p.Asp2415=) c.7197T>C (p.Asp2399=) c.7164T>C (p.Asp2388=) c.7134T>C (p.Asp2378=) c.7131T>C (p.Asp2377=) c.7083T>C (p.Asp2361=) c.7047T>C (p.Asp2349=) c.7044T>C (p.Asp2348=) c.6999T>C (p.Asp2333=) n.7664T>C | |
X | g.77508465A>T | CA413704119 | ATRX | c.7365T>A (p.Asp2455Glu) c.2463T>A (p.Asp821Glu) c.7251T>A (p.Asp2417Glu) c.*6993T>A (n.*6993T>A) n.5685T>A c.7362T>A (p.Asp2454Glu) c.7278T>A (p.Asp2426Glu) c.7248T>A (p.Asp2416Glu) c.7200T>A (p.Asp2400Glu) c.7161T>A (p.Asp2387Glu) c.7086T>A (p.Asp2362Glu) n.8957T>A c.7275T>A (p.Asp2425Glu) c.7245T>A (p.Asp2415Glu) c.7197T>A (p.Asp2399Glu) c.7164T>A (p.Asp2388Glu) c.7134T>A (p.Asp2378Glu) c.7131T>A (p.Asp2377Glu) c.7083T>A (p.Asp2361Glu) c.7047T>A (p.Asp2349Glu) c.7044T>A (p.Asp2348Glu) c.6999T>A (p.Asp2333Glu) n.7664T>A | dbSNP |
X | g.77508466T>A | CA413704122 | ATRX | c.7364A>T (p.Asp2455Val) c.2462A>T (p.Asp821Val) c.7250A>T (p.Asp2417Val) c.*6992A>T (n.*6992A>T) n.5684A>T c.7361A>T (p.Asp2454Val) c.7277A>T (p.Asp2426Val) c.7247A>T (p.Asp2416Val) c.7199A>T (p.Asp2400Val) c.7160A>T (p.Asp2387Val) c.7085A>T (p.Asp2362Val) n.8956A>T c.7274A>T (p.Asp2425Val) c.7244A>T (p.Asp2415Val) c.7196A>T (p.Asp2399Val) c.7163A>T (p.Asp2388Val) c.7133A>T (p.Asp2378Val) c.7130A>T (p.Asp2377Val) c.7082A>T (p.Asp2361Val) c.7046A>T (p.Asp2349Val) c.7043A>T (p.Asp2348Val) c.6998A>T (p.Asp2333Val) n.7663A>T | |
X | g.77508466T>C | CA413704126 | ATRX | c.7364A>G (p.Asp2455Gly) c.2462A>G (p.Asp821Gly) c.7250A>G (p.Asp2417Gly) c.*6992A>G (n.*6992A>G) n.5684A>G c.7361A>G (p.Asp2454Gly) c.7277A>G (p.Asp2426Gly) c.7247A>G (p.Asp2416Gly) c.7199A>G (p.Asp2400Gly) c.7160A>G (p.Asp2387Gly) c.7085A>G (p.Asp2362Gly) n.8956A>G c.7274A>G (p.Asp2425Gly) c.7244A>G (p.Asp2415Gly) c.7196A>G (p.Asp2399Gly) c.7163A>G (p.Asp2388Gly) c.7133A>G (p.Asp2378Gly) c.7130A>G (p.Asp2377Gly) c.7082A>G (p.Asp2361Gly) c.7046A>G (p.Asp2349Gly) c.7043A>G (p.Asp2348Gly) c.6998A>G (p.Asp2333Gly) n.7663A>G | |
X | g.77508466T>G | CA413704128 | ATRX | c.7364A>C (p.Asp2455Ala) c.2462A>C (p.Asp821Ala) c.7250A>C (p.Asp2417Ala) c.*6992A>C (n.*6992A>C) n.5684A>C c.7361A>C (p.Asp2454Ala) c.7277A>C (p.Asp2426Ala) c.7247A>C (p.Asp2416Ala) c.7199A>C (p.Asp2400Ala) c.7160A>C (p.Asp2387Ala) c.7085A>C (p.Asp2362Ala) n.8956A>C c.7274A>C (p.Asp2425Ala) c.7244A>C (p.Asp2415Ala) c.7196A>C (p.Asp2399Ala) c.7163A>C (p.Asp2388Ala) c.7133A>C (p.Asp2378Ala) c.7130A>C (p.Asp2377Ala) c.7082A>C (p.Asp2361Ala) c.7046A>C (p.Asp2349Ala) c.7043A>C (p.Asp2348Ala) c.6998A>C (p.Asp2333Ala) n.7663A>C | |
X | g.77508467C>A | CA413704131 | ATRX | c.7363G>T (p.Asp2455Tyr) c.2461G>T (p.Asp821Tyr) c.7249G>T (p.Asp2417Tyr) c.*6991G>T (n.*6991G>T) n.5683G>T c.7360G>T (p.Asp2454Tyr) c.7276G>T (p.Asp2426Tyr) c.7246G>T (p.Asp2416Tyr) c.7198G>T (p.Asp2400Tyr) c.7159G>T (p.Asp2387Tyr) c.7084G>T (p.Asp2362Tyr) n.8955G>T c.7273G>T (p.Asp2425Tyr) c.7243G>T (p.Asp2415Tyr) c.7195G>T (p.Asp2399Tyr) c.7162G>T (p.Asp2388Tyr) c.7132G>T (p.Asp2378Tyr) c.7129G>T (p.Asp2377Tyr) c.7081G>T (p.Asp2361Tyr) c.7045G>T (p.Asp2349Tyr) c.7042G>T (p.Asp2348Tyr) c.6997G>T (p.Asp2333Tyr) n.7662G>T | dbSNP |
X | g.77508467C>G | CA413704136 | ATRX | c.7363G>C (p.Asp2455His) c.2461G>C (p.Asp821His) c.7249G>C (p.Asp2417His) c.*6991G>C (n.*6991G>C) n.5683G>C c.7360G>C (p.Asp2454His) c.7276G>C (p.Asp2426His) c.7246G>C (p.Asp2416His) c.7198G>C (p.Asp2400His) c.7159G>C (p.Asp2387His) c.7084G>C (p.Asp2362His) n.8955G>C c.7273G>C (p.Asp2425His) c.7243G>C (p.Asp2415His) c.7195G>C (p.Asp2399His) c.7162G>C (p.Asp2388His) c.7132G>C (p.Asp2378His) c.7129G>C (p.Asp2377His) c.7081G>C (p.Asp2361His) c.7045G>C (p.Asp2349His) c.7042G>C (p.Asp2348His) c.6997G>C (p.Asp2333His) n.7662G>C | dbSNP |
X | g.77508467C>T | CA413704133 | ATRX | c.7363G>A (p.Asp2455Asn) c.2461G>A (p.Asp821Asn) c.7249G>A (p.Asp2417Asn) c.*6991G>A (n.*6991G>A) n.5683G>A c.7360G>A (p.Asp2454Asn) c.7276G>A (p.Asp2426Asn) c.7246G>A (p.Asp2416Asn) c.7198G>A (p.Asp2400Asn) c.7159G>A (p.Asp2387Asn) c.7084G>A (p.Asp2362Asn) n.8955G>A c.7273G>A (p.Asp2425Asn) c.7243G>A (p.Asp2415Asn) c.7195G>A (p.Asp2399Asn) c.7162G>A (p.Asp2388Asn) c.7132G>A (p.Asp2378Asn) c.7129G>A (p.Asp2377Asn) c.7081G>A (p.Asp2361Asn) c.7045G>A (p.Asp2349Asn) c.7042G>A (p.Asp2348Asn) c.6997G>A (p.Asp2333Asn) n.7662G>A | dbSNP |
X | g.77508468A= | CA2438929048 | ATRX | c.7362T= (p.Ile2454=) c.2460T= (p.Ile820=) c.7248T= (p.Ile2416=) c.*6990T= (n.*6990T=) n.5682T= c.7359T= (p.Ile2453=) c.7275T= (p.Ile2425=) c.7245T= (p.Ile2415=) c.7197T= (p.Ile2399=) c.7158T= (p.Ile2386=) c.7083T= (p.Ile2361=) n.8954T= c.7272T= (p.Ile2424=) c.7242T= (p.Ile2414=) c.7194T= (p.Ile2398=) c.7161T= (p.Ile2387=) c.7131T= (p.Ile2377=) c.7128T= (p.Ile2376=) c.7080T= (p.Ile2360=) c.7044T= (p.Ile2348=) c.7041T= (p.Ile2347=) c.6996T= (p.Ile2332=) n.7661T= | |
X | g.77508468A>C | CA413704137 | ATRX | c.7362T>G (p.Ile2454Met) c.2460T>G (p.Ile820Met) c.7248T>G (p.Ile2416Met) c.*6990T>G (n.*6990T>G) n.5682T>G c.7359T>G (p.Ile2453Met) c.7275T>G (p.Ile2425Met) c.7245T>G (p.Ile2415Met) c.7197T>G (p.Ile2399Met) c.7158T>G (p.Ile2386Met) c.7083T>G (p.Ile2361Met) n.8954T>G c.7272T>G (p.Ile2424Met) c.7242T>G (p.Ile2414Met) c.7194T>G (p.Ile2398Met) c.7161T>G (p.Ile2387Met) c.7131T>G (p.Ile2377Met) c.7128T>G (p.Ile2376Met) c.7080T>G (p.Ile2360Met) c.7044T>G (p.Ile2348Met) c.7041T>G (p.Ile2347Met) c.6996T>G (p.Ile2332Met) n.7661T>G | |
X | g.77508468A>G | CA517374080 | ATRX | c.7362T>C (p.Ile2454=) c.2460T>C (p.Ile820=) c.7248T>C (p.Ile2416=) c.*6990T>C (n.*6990T>C) n.5682T>C c.7359T>C (p.Ile2453=) c.7275T>C (p.Ile2425=) c.7245T>C (p.Ile2415=) c.7197T>C (p.Ile2399=) c.7158T>C (p.Ile2386=) c.7083T>C (p.Ile2361=) n.8954T>C c.7272T>C (p.Ile2424=) c.7242T>C (p.Ile2414=) c.7194T>C (p.Ile2398=) c.7161T>C (p.Ile2387=) c.7131T>C (p.Ile2377=) c.7128T>C (p.Ile2376=) c.7080T>C (p.Ile2360=) c.7044T>C (p.Ile2348=) c.7041T>C (p.Ile2347=) c.6996T>C (p.Ile2332=) n.7661T>C | |
X | g.77508468A>T | CA517374081 | ATRX | c.7362T>A (p.Ile2454=) c.2460T>A (p.Ile820=) c.7248T>A (p.Ile2416=) c.*6990T>A (n.*6990T>A) n.5682T>A c.7359T>A (p.Ile2453=) c.7275T>A (p.Ile2425=) c.7245T>A (p.Ile2415=) c.7197T>A (p.Ile2399=) c.7158T>A (p.Ile2386=) c.7083T>A (p.Ile2361=) n.8954T>A c.7272T>A (p.Ile2424=) c.7242T>A (p.Ile2414=) c.7194T>A (p.Ile2398=) c.7161T>A (p.Ile2387=) c.7131T>A (p.Ile2377=) c.7128T>A (p.Ile2376=) c.7080T>A (p.Ile2360=) c.7044T>A (p.Ile2348=) c.7041T>A (p.Ile2347=) c.6996T>A (p.Ile2332=) n.7661T>A | dbSNP |
X | g.77508469A>C | CA413704139 | ATRX | c.7361T>G (p.Ile2454Ser) c.2459T>G (p.Ile820Ser) c.7247T>G (p.Ile2416Ser) c.*6989T>G (n.*6989T>G) n.5681T>G c.7358T>G (p.Ile2453Ser) c.7274T>G (p.Ile2425Ser) c.7244T>G (p.Ile2415Ser) c.7196T>G (p.Ile2399Ser) c.7157T>G (p.Ile2386Ser) c.7082T>G (p.Ile2361Ser) n.8953T>G c.7271T>G (p.Ile2424Ser) c.7241T>G (p.Ile2414Ser) c.7193T>G (p.Ile2398Ser) c.7160T>G (p.Ile2387Ser) c.7130T>G (p.Ile2377Ser) c.7127T>G (p.Ile2376Ser) c.7079T>G (p.Ile2360Ser) c.7043T>G (p.Ile2348Ser) c.7040T>G (p.Ile2347Ser) c.6995T>G (p.Ile2332Ser) n.7660T>G | |
X | g.77508469A>G | CA413704140 | ATRX | c.7361T>C (p.Ile2454Thr) c.2459T>C (p.Ile820Thr) c.7247T>C (p.Ile2416Thr) c.*6989T>C (n.*6989T>C) n.5681T>C c.7358T>C (p.Ile2453Thr) c.7274T>C (p.Ile2425Thr) c.7244T>C (p.Ile2415Thr) c.7196T>C (p.Ile2399Thr) c.7157T>C (p.Ile2386Thr) c.7082T>C (p.Ile2361Thr) n.8953T>C c.7271T>C (p.Ile2424Thr) c.7241T>C (p.Ile2414Thr) c.7193T>C (p.Ile2398Thr) c.7160T>C (p.Ile2387Thr) c.7130T>C (p.Ile2377Thr) c.7127T>C (p.Ile2376Thr) c.7079T>C (p.Ile2360Thr) c.7043T>C (p.Ile2348Thr) c.7040T>C (p.Ile2347Thr) c.6995T>C (p.Ile2332Thr) n.7660T>C | |
X | g.77508469A>T | CA413704142 | ATRX | c.7361T>A (p.Ile2454Asn) c.2459T>A (p.Ile820Asn) c.7247T>A (p.Ile2416Asn) c.*6989T>A (n.*6989T>A) n.5681T>A c.7358T>A (p.Ile2453Asn) c.7274T>A (p.Ile2425Asn) c.7244T>A (p.Ile2415Asn) c.7196T>A (p.Ile2399Asn) c.7157T>A (p.Ile2386Asn) c.7082T>A (p.Ile2361Asn) n.8953T>A c.7271T>A (p.Ile2424Asn) c.7241T>A (p.Ile2414Asn) c.7193T>A (p.Ile2398Asn) c.7160T>A (p.Ile2387Asn) c.7130T>A (p.Ile2377Asn) c.7127T>A (p.Ile2376Asn) c.7079T>A (p.Ile2360Asn) c.7043T>A (p.Ile2348Asn) c.7040T>A (p.Ile2347Asn) c.6995T>A (p.Ile2332Asn) n.7660T>A | |
X | g.77508470T>A | CA413704145 | ATRX | c.7360A>T (p.Ile2454Phe) c.2458A>T (p.Ile820Phe) c.7246A>T (p.Ile2416Phe) c.*6988A>T (n.*6988A>T) n.5680A>T c.7357A>T (p.Ile2453Phe) c.7273A>T (p.Ile2425Phe) c.7243A>T (p.Ile2415Phe) c.7195A>T (p.Ile2399Phe) c.7156A>T (p.Ile2386Phe) c.7081A>T (p.Ile2361Phe) n.8952A>T c.7270A>T (p.Ile2424Phe) c.7240A>T (p.Ile2414Phe) c.7192A>T (p.Ile2398Phe) c.7159A>T (p.Ile2387Phe) c.7129A>T (p.Ile2377Phe) c.7126A>T (p.Ile2376Phe) c.7078A>T (p.Ile2360Phe) c.7042A>T (p.Ile2348Phe) c.7039A>T (p.Ile2347Phe) c.6994A>T (p.Ile2332Phe) n.7659A>T | |
X | g.77508470T>C | CA413704147 | ATRX | c.7360A>G (p.Ile2454Val) c.2458A>G (p.Ile820Val) c.7246A>G (p.Ile2416Val) c.*6988A>G (n.*6988A>G) n.5680A>G c.7357A>G (p.Ile2453Val) c.7273A>G (p.Ile2425Val) c.7243A>G (p.Ile2415Val) c.7195A>G (p.Ile2399Val) c.7156A>G (p.Ile2386Val) c.7081A>G (p.Ile2361Val) n.8952A>G c.7270A>G (p.Ile2424Val) c.7240A>G (p.Ile2414Val) c.7192A>G (p.Ile2398Val) c.7159A>G (p.Ile2387Val) c.7129A>G (p.Ile2377Val) c.7126A>G (p.Ile2376Val) c.7078A>G (p.Ile2360Val) c.7042A>G (p.Ile2348Val) c.7039A>G (p.Ile2347Val) c.6994A>G (p.Ile2332Val) n.7659A>G | gnomAD v4 |
X | g.77508470T>G | CA413704149 | ATRX | c.7360A>C (p.Ile2454Leu) c.2458A>C (p.Ile820Leu) c.7246A>C (p.Ile2416Leu) c.*6988A>C (n.*6988A>C) n.5680A>C c.7357A>C (p.Ile2453Leu) c.7273A>C (p.Ile2425Leu) c.7243A>C (p.Ile2415Leu) c.7195A>C (p.Ile2399Leu) c.7156A>C (p.Ile2386Leu) c.7081A>C (p.Ile2361Leu) n.8952A>C c.7270A>C (p.Ile2424Leu) c.7240A>C (p.Ile2414Leu) c.7192A>C (p.Ile2398Leu) c.7159A>C (p.Ile2387Leu) c.7129A>C (p.Ile2377Leu) c.7126A>C (p.Ile2376Leu) c.7078A>C (p.Ile2360Leu) c.7042A>C (p.Ile2348Leu) c.7039A>C (p.Ile2347Leu) c.6994A>C (p.Ile2332Leu) n.7659A>C | |
X | g.77508471C>A | CA413704152 | ATRX | c.7359G>T (p.Gln2453His) c.2457G>T (p.Gln819His) c.7245G>T (p.Gln2415His) c.*6987G>T (n.*6987G>T) n.5679G>T c.7356G>T (p.Gln2452His) c.7272G>T (p.Gln2424His) c.7242G>T (p.Gln2414His) c.7194G>T (p.Gln2398His) c.7155G>T (p.Gln2385His) c.7080G>T (p.Gln2360His) n.8951G>T c.7269G>T (p.Gln2423His) c.7239G>T (p.Gln2413His) c.7191G>T (p.Gln2397His) c.7158G>T (p.Gln2386His) c.7128G>T (p.Gln2376His) c.7125G>T (p.Gln2375His) c.7077G>T (p.Gln2359His) c.7041G>T (p.Gln2347His) c.7038G>T (p.Gln2346His) c.6993G>T (p.Gln2331His) n.7658G>T | dbSNP |
X | g.77508471C= | CA2438929049 | ATRX | c.7359G= (p.Gln2453=) c.2457G= (p.Gln819=) c.7245G= (p.Gln2415=) c.*6987G= (n.*6987G=) n.5679G= c.7356G= (p.Gln2452=) c.7272G= (p.Gln2424=) c.7242G= (p.Gln2414=) c.7194G= (p.Gln2398=) c.7155G= (p.Gln2385=) c.7080G= (p.Gln2360=) n.8951G= c.7269G= (p.Gln2423=) c.7239G= (p.Gln2413=) c.7191G= (p.Gln2397=) c.7158G= (p.Gln2386=) c.7128G= (p.Gln2376=) c.7125G= (p.Gln2375=) c.7077G= (p.Gln2359=) c.7041G= (p.Gln2347=) c.7038G= (p.Gln2346=) c.6993G= (p.Gln2331=) n.7658G= | |
X | g.77508471C>G | CA413704154 | ATRX | c.7359G>C (p.Gln2453His) c.2457G>C (p.Gln819His) c.7245G>C (p.Gln2415His) c.*6987G>C (n.*6987G>C) n.5679G>C c.7356G>C (p.Gln2452His) c.7272G>C (p.Gln2424His) c.7242G>C (p.Gln2414His) c.7194G>C (p.Gln2398His) c.7155G>C (p.Gln2385His) c.7080G>C (p.Gln2360His) n.8951G>C c.7269G>C (p.Gln2423His) c.7239G>C (p.Gln2413His) c.7191G>C (p.Gln2397His) c.7158G>C (p.Gln2386His) c.7128G>C (p.Gln2376His) c.7125G>C (p.Gln2375His) c.7077G>C (p.Gln2359His) c.7041G>C (p.Gln2347His) c.7038G>C (p.Gln2346His) c.6993G>C (p.Gln2331His) n.7658G>C | dbSNP |
X | g.77508471C>T | CA517374083 | ATRX | c.7359G>A (p.Gln2453=) c.2457G>A (p.Gln819=) c.7245G>A (p.Gln2415=) c.*6987G>A (n.*6987G>A) n.5679G>A c.7356G>A (p.Gln2452=) c.7272G>A (p.Gln2424=) c.7242G>A (p.Gln2414=) c.7194G>A (p.Gln2398=) c.7155G>A (p.Gln2385=) c.7080G>A (p.Gln2360=) n.8951G>A c.7269G>A (p.Gln2423=) c.7239G>A (p.Gln2413=) c.7191G>A (p.Gln2397=) c.7158G>A (p.Gln2386=) c.7128G>A (p.Gln2376=) c.7125G>A (p.Gln2375=) c.7077G>A (p.Gln2359=) c.7041G>A (p.Gln2347=) c.7038G>A (p.Gln2346=) c.6993G>A (p.Gln2331=) n.7658G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.77508472T>A | CA413704157 | ATRX | c.7358A>T (p.Gln2453Leu) c.2456A>T (p.Gln819Leu) c.7244A>T (p.Gln2415Leu) c.*6986A>T (n.*6986A>T) n.5678A>T c.7355A>T (p.Gln2452Leu) c.7271A>T (p.Gln2424Leu) c.7241A>T (p.Gln2414Leu) c.7193A>T (p.Gln2398Leu) c.7154A>T (p.Gln2385Leu) c.7079A>T (p.Gln2360Leu) n.8950A>T c.7268A>T (p.Gln2423Leu) c.7238A>T (p.Gln2413Leu) c.7190A>T (p.Gln2397Leu) c.7157A>T (p.Gln2386Leu) c.7127A>T (p.Gln2376Leu) c.7124A>T (p.Gln2375Leu) c.7076A>T (p.Gln2359Leu) c.7040A>T (p.Gln2347Leu) c.7037A>T (p.Gln2346Leu) c.6992A>T (p.Gln2331Leu) n.7657A>T | |
X | g.77508472T>C | CA413704161 | ATRX | c.7358A>G (p.Gln2453Arg) c.2456A>G (p.Gln819Arg) c.7244A>G (p.Gln2415Arg) c.*6986A>G (n.*6986A>G) n.5678A>G c.7355A>G (p.Gln2452Arg) c.7271A>G (p.Gln2424Arg) c.7241A>G (p.Gln2414Arg) c.7193A>G (p.Gln2398Arg) c.7154A>G (p.Gln2385Arg) c.7079A>G (p.Gln2360Arg) n.8950A>G c.7268A>G (p.Gln2423Arg) c.7238A>G (p.Gln2413Arg) c.7190A>G (p.Gln2397Arg) c.7157A>G (p.Gln2386Arg) c.7127A>G (p.Gln2376Arg) c.7124A>G (p.Gln2375Arg) c.7076A>G (p.Gln2359Arg) c.7040A>G (p.Gln2347Arg) c.7037A>G (p.Gln2346Arg) c.6992A>G (p.Gln2331Arg) n.7657A>G | |
X | g.77508472T>G | CA413704162 | ATRX | c.7358A>C (p.Gln2453Pro) c.2456A>C (p.Gln819Pro) c.7244A>C (p.Gln2415Pro) c.*6986A>C (n.*6986A>C) n.5678A>C c.7355A>C (p.Gln2452Pro) c.7271A>C (p.Gln2424Pro) c.7241A>C (p.Gln2414Pro) c.7193A>C (p.Gln2398Pro) c.7154A>C (p.Gln2385Pro) c.7079A>C (p.Gln2360Pro) n.8950A>C c.7268A>C (p.Gln2423Pro) c.7238A>C (p.Gln2413Pro) c.7190A>C (p.Gln2397Pro) c.7157A>C (p.Gln2386Pro) c.7127A>C (p.Gln2376Pro) c.7124A>C (p.Gln2375Pro) c.7076A>C (p.Gln2359Pro) c.7040A>C (p.Gln2347Pro) c.7037A>C (p.Gln2346Pro) c.6992A>C (p.Gln2331Pro) n.7657A>C | |
X | g.77508473G>A | CA413704164 | ATRX | c.7357C>T (p.Gln2453Ter) c.2455C>T (p.Gln819Ter) c.7243C>T (p.Gln2415Ter) c.*6985C>T (n.*6985C>T) n.5677C>T c.7354C>T (p.Gln2452Ter) c.7270C>T (p.Gln2424Ter) c.7240C>T (p.Gln2414Ter) c.7192C>T (p.Gln2398Ter) c.7153C>T (p.Gln2385Ter) c.7078C>T (p.Gln2360Ter) n.8949C>T c.7267C>T (p.Gln2423Ter) c.7237C>T (p.Gln2413Ter) c.7189C>T (p.Gln2397Ter) c.7156C>T (p.Gln2386Ter) c.7126C>T (p.Gln2376Ter) c.7123C>T (p.Gln2375Ter) c.7075C>T (p.Gln2359Ter) c.7039C>T (p.Gln2347Ter) c.7036C>T (p.Gln2346Ter) c.6991C>T (p.Gln2331Ter) n.7656C>T | dbSNP |
X | g.77508473G>C | CA413704168 | ATRX | c.7357C>G (p.Gln2453Glu) c.2455C>G (p.Gln819Glu) c.7243C>G (p.Gln2415Glu) c.*6985C>G (n.*6985C>G) n.5677C>G c.7354C>G (p.Gln2452Glu) c.7270C>G (p.Gln2424Glu) c.7240C>G (p.Gln2414Glu) c.7192C>G (p.Gln2398Glu) c.7153C>G (p.Gln2385Glu) c.7078C>G (p.Gln2360Glu) n.8949C>G c.7267C>G (p.Gln2423Glu) c.7237C>G (p.Gln2413Glu) c.7189C>G (p.Gln2397Glu) c.7156C>G (p.Gln2386Glu) c.7126C>G (p.Gln2376Glu) c.7123C>G (p.Gln2375Glu) c.7075C>G (p.Gln2359Glu) c.7039C>G (p.Gln2347Glu) c.7036C>G (p.Gln2346Glu) c.6991C>G (p.Gln2331Glu) n.7656C>G | dbSNP |
X | g.77508473G>T | CA413704163 | ATRX | c.7357C>A (p.Gln2453Lys) c.2455C>A (p.Gln819Lys) c.7243C>A (p.Gln2415Lys) c.*6985C>A (n.*6985C>A) n.5677C>A c.7354C>A (p.Gln2452Lys) c.7270C>A (p.Gln2424Lys) c.7240C>A (p.Gln2414Lys) c.7192C>A (p.Gln2398Lys) c.7153C>A (p.Gln2385Lys) c.7078C>A (p.Gln2360Lys) n.8949C>A c.7267C>A (p.Gln2423Lys) c.7237C>A (p.Gln2413Lys) c.7189C>A (p.Gln2397Lys) c.7156C>A (p.Gln2386Lys) c.7126C>A (p.Gln2376Lys) c.7123C>A (p.Gln2375Lys) c.7075C>A (p.Gln2359Lys) c.7039C>A (p.Gln2347Lys) c.7036C>A (p.Gln2346Lys) c.6991C>A (p.Gln2331Lys) n.7656C>A | |
X | g.77508474C>A | CA413704171 | ATRX | c.7356G>T (p.Gln2452His) c.2454G>T (p.Gln818His) c.7242G>T (p.Gln2414His) c.*6984G>T (n.*6984G>T) n.5676G>T c.7353G>T (p.Gln2451His) c.7269G>T (p.Gln2423His) c.7239G>T (p.Gln2413His) c.7191G>T (p.Gln2397His) c.7152G>T (p.Gln2384His) c.7077G>T (p.Gln2359His) n.8948G>T c.7266G>T (p.Gln2422His) c.7236G>T (p.Gln2412His) c.7188G>T (p.Gln2396His) c.7155G>T (p.Gln2385His) c.7125G>T (p.Gln2375His) c.7122G>T (p.Gln2374His) c.7074G>T (p.Gln2358His) c.7038G>T (p.Gln2346His) c.7035G>T (p.Gln2345His) c.6990G>T (p.Gln2330His) n.7655G>T | dbSNP |
X | g.77508474C>G | CA413704172 | ATRX | c.7356G>C (p.Gln2452His) c.2454G>C (p.Gln818His) c.7242G>C (p.Gln2414His) c.*6984G>C (n.*6984G>C) n.5676G>C c.7353G>C (p.Gln2451His) c.7269G>C (p.Gln2423His) c.7239G>C (p.Gln2413His) c.7191G>C (p.Gln2397His) c.7152G>C (p.Gln2384His) c.7077G>C (p.Gln2359His) n.8948G>C c.7266G>C (p.Gln2422His) c.7236G>C (p.Gln2412His) c.7188G>C (p.Gln2396His) c.7155G>C (p.Gln2385His) c.7125G>C (p.Gln2375His) c.7122G>C (p.Gln2374His) c.7074G>C (p.Gln2358His) c.7038G>C (p.Gln2346His) c.7035G>C (p.Gln2345His) c.6990G>C (p.Gln2330His) n.7655G>C | dbSNP |
X | g.77508474C>T | CA517374085 | ATRX | c.7356G>A (p.Gln2452=) c.2454G>A (p.Gln818=) c.7242G>A (p.Gln2414=) c.*6984G>A (n.*6984G>A) n.5676G>A c.7353G>A (p.Gln2451=) c.7269G>A (p.Gln2423=) c.7239G>A (p.Gln2413=) c.7191G>A (p.Gln2397=) c.7152G>A (p.Gln2384=) c.7077G>A (p.Gln2359=) n.8948G>A c.7266G>A (p.Gln2422=) c.7236G>A (p.Gln2412=) c.7188G>A (p.Gln2396=) c.7155G>A (p.Gln2385=) c.7125G>A (p.Gln2375=) c.7122G>A (p.Gln2374=) c.7074G>A (p.Gln2358=) c.7038G>A (p.Gln2346=) c.7035G>A (p.Gln2345=) c.6990G>A (p.Gln2330=) n.7655G>A | ClinVar dbSNP |
X | g.77508475T>A | CA413704173 | ATRX | c.7355A>T (p.Gln2452Leu) c.2453A>T (p.Gln818Leu) c.7241A>T (p.Gln2414Leu) c.*6983A>T (n.*6983A>T) n.5675A>T c.7352A>T (p.Gln2451Leu) c.7268A>T (p.Gln2423Leu) c.7238A>T (p.Gln2413Leu) c.7190A>T (p.Gln2397Leu) c.7151A>T (p.Gln2384Leu) c.7076A>T (p.Gln2359Leu) n.8947A>T c.7265A>T (p.Gln2422Leu) c.7235A>T (p.Gln2412Leu) c.7187A>T (p.Gln2396Leu) c.7154A>T (p.Gln2385Leu) c.7124A>T (p.Gln2375Leu) c.7121A>T (p.Gln2374Leu) c.7073A>T (p.Gln2358Leu) c.7037A>T (p.Gln2346Leu) c.7034A>T (p.Gln2345Leu) c.6989A>T (p.Gln2330Leu) n.7654A>T | |
X | g.77508475T>C | CA413704175 | ATRX | c.7355A>G (p.Gln2452Arg) c.2453A>G (p.Gln818Arg) c.7241A>G (p.Gln2414Arg) c.*6983A>G (n.*6983A>G) n.5675A>G c.7352A>G (p.Gln2451Arg) c.7268A>G (p.Gln2423Arg) c.7238A>G (p.Gln2413Arg) c.7190A>G (p.Gln2397Arg) c.7151A>G (p.Gln2384Arg) c.7076A>G (p.Gln2359Arg) n.8947A>G c.7265A>G (p.Gln2422Arg) c.7235A>G (p.Gln2412Arg) c.7187A>G (p.Gln2396Arg) c.7154A>G (p.Gln2385Arg) c.7124A>G (p.Gln2375Arg) c.7121A>G (p.Gln2374Arg) c.7073A>G (p.Gln2358Arg) c.7037A>G (p.Gln2346Arg) c.7034A>G (p.Gln2345Arg) c.6989A>G (p.Gln2330Arg) n.7654A>G | |
X | g.77508475T>G | CA413704184 | ATRX | c.7355A>C (p.Gln2452Pro) c.2453A>C (p.Gln818Pro) c.7241A>C (p.Gln2414Pro) c.*6983A>C (n.*6983A>C) n.5675A>C c.7352A>C (p.Gln2451Pro) c.7268A>C (p.Gln2423Pro) c.7238A>C (p.Gln2413Pro) c.7190A>C (p.Gln2397Pro) c.7151A>C (p.Gln2384Pro) c.7076A>C (p.Gln2359Pro) n.8947A>C c.7265A>C (p.Gln2422Pro) c.7235A>C (p.Gln2412Pro) c.7187A>C (p.Gln2396Pro) c.7154A>C (p.Gln2385Pro) c.7124A>C (p.Gln2375Pro) c.7121A>C (p.Gln2374Pro) c.7073A>C (p.Gln2358Pro) c.7037A>C (p.Gln2346Pro) c.7034A>C (p.Gln2345Pro) c.6989A>C (p.Gln2330Pro) n.7654A>C | |
X | g.77508476G>A | CA413704193 | ATRX | c.7354C>T (p.Gln2452Ter) c.2452C>T (p.Gln818Ter) c.7240C>T (p.Gln2414Ter) c.*6982C>T (n.*6982C>T) n.5674C>T c.7351C>T (p.Gln2451Ter) c.7267C>T (p.Gln2423Ter) c.7237C>T (p.Gln2413Ter) c.7189C>T (p.Gln2397Ter) c.7150C>T (p.Gln2384Ter) c.7075C>T (p.Gln2359Ter) n.8946C>T c.7264C>T (p.Gln2422Ter) c.7234C>T (p.Gln2412Ter) c.7186C>T (p.Gln2396Ter) c.7153C>T (p.Gln2385Ter) c.7123C>T (p.Gln2375Ter) c.7120C>T (p.Gln2374Ter) c.7072C>T (p.Gln2358Ter) c.7036C>T (p.Gln2346Ter) c.7033C>T (p.Gln2345Ter) c.6988C>T (p.Gln2330Ter) n.7653C>T | |
X | g.77508476G>C | CA413704188 | ATRX | c.7354C>G (p.Gln2452Glu) c.2452C>G (p.Gln818Glu) c.7240C>G (p.Gln2414Glu) c.*6982C>G (n.*6982C>G) n.5674C>G c.7351C>G (p.Gln2451Glu) c.7267C>G (p.Gln2423Glu) c.7237C>G (p.Gln2413Glu) c.7189C>G (p.Gln2397Glu) c.7150C>G (p.Gln2384Glu) c.7075C>G (p.Gln2359Glu) n.8946C>G c.7264C>G (p.Gln2422Glu) c.7234C>G (p.Gln2412Glu) c.7186C>G (p.Gln2396Glu) c.7153C>G (p.Gln2385Glu) c.7123C>G (p.Gln2375Glu) c.7120C>G (p.Gln2374Glu) c.7072C>G (p.Gln2358Glu) c.7036C>G (p.Gln2346Glu) c.7033C>G (p.Gln2345Glu) c.6988C>G (p.Gln2330Glu) n.7653C>G | dbSNP |
X | g.77508476G>T | CA413704190 | ATRX | c.7354C>A (p.Gln2452Lys) c.2452C>A (p.Gln818Lys) c.7240C>A (p.Gln2414Lys) c.*6982C>A (n.*6982C>A) n.5674C>A c.7351C>A (p.Gln2451Lys) c.7267C>A (p.Gln2423Lys) c.7237C>A (p.Gln2413Lys) c.7189C>A (p.Gln2397Lys) c.7150C>A (p.Gln2384Lys) c.7075C>A (p.Gln2359Lys) n.8946C>A c.7264C>A (p.Gln2422Lys) c.7234C>A (p.Gln2412Lys) c.7186C>A (p.Gln2396Lys) c.7153C>A (p.Gln2385Lys) c.7123C>A (p.Gln2375Lys) c.7120C>A (p.Gln2374Lys) c.7072C>A (p.Gln2358Lys) c.7036C>A (p.Gln2346Lys) c.7033C>A (p.Gln2345Lys) c.6988C>A (p.Gln2330Lys) n.7653C>A | dbSNP |
X | g.77508477del | CA2738724212 | ATRX | c.7354del (p.Gln2452SerfsTer5) c.2452del (p.Gln818SerfsTer5) c.7240del (p.Gln2414SerfsTer5) c.*6982del (n.*6982del) n.5674del c.7351del (p.Gln2451SerfsTer5) c.7267del (p.Gln2423SerfsTer5) c.7237del (p.Gln2413SerfsTer5) c.7189del (p.Gln2397SerfsTer5) c.7150del (p.Gln2384SerfsTer5) c.7075del (p.Gln2359SerfsTer5) n.8946del c.7264del (p.Gln2422SerfsTer5) c.7234del (p.Gln2412SerfsTer5) c.7186del (p.Gln2396SerfsTer5) c.7153del (p.Gln2385SerfsTer5) c.7123del (p.Gln2375SerfsTer5) c.7120del (p.Gln2374SerfsTer5) c.7072del (p.Gln2358SerfsTer5) c.7036del (p.Gln2346SerfsTer5) c.7033del (p.Gln2345SerfsTer5) c.6988del (p.Gln2330SerfsTer5) n.7653del | dbSNP |
X | g.77508477G>A | CA517374087 | ATRX | c.7353C>T (p.Tyr2451=) c.2451C>T (p.Tyr817=) c.7239C>T (p.Tyr2413=) c.*6981C>T (n.*6981C>T) n.5673C>T c.7350C>T (p.Tyr2450=) c.7266C>T (p.Tyr2422=) c.7236C>T (p.Tyr2412=) c.7188C>T (p.Tyr2396=) c.7149C>T (p.Tyr2383=) c.7074C>T (p.Tyr2358=) n.8945C>T c.7263C>T (p.Tyr2421=) c.7233C>T (p.Tyr2411=) c.7185C>T (p.Tyr2395=) c.7152C>T (p.Tyr2384=) c.7122C>T (p.Tyr2374=) c.7119C>T (p.Tyr2373=) c.7071C>T (p.Tyr2357=) c.7035C>T (p.Tyr2345=) c.7032C>T (p.Tyr2344=) c.6987C>T (p.Tyr2329=) n.7652C>T | |
X | g.77508477G>C | CA413704196 | ATRX | c.7353C>G (p.Tyr2451Ter) c.2451C>G (p.Tyr817Ter) c.7239C>G (p.Tyr2413Ter) c.*6981C>G (n.*6981C>G) n.5673C>G c.7350C>G (p.Tyr2450Ter) c.7266C>G (p.Tyr2422Ter) c.7236C>G (p.Tyr2412Ter) c.7188C>G (p.Tyr2396Ter) c.7149C>G (p.Tyr2383Ter) c.7074C>G (p.Tyr2358Ter) n.8945C>G c.7263C>G (p.Tyr2421Ter) c.7233C>G (p.Tyr2411Ter) c.7185C>G (p.Tyr2395Ter) c.7152C>G (p.Tyr2384Ter) c.7122C>G (p.Tyr2374Ter) c.7119C>G (p.Tyr2373Ter) c.7071C>G (p.Tyr2357Ter) c.7035C>G (p.Tyr2345Ter) c.7032C>G (p.Tyr2344Ter) c.6987C>G (p.Tyr2329Ter) n.7652C>G | dbSNP |
X | g.77508477G>T | CA413704200 | ATRX | c.7353C>A (p.Tyr2451Ter) c.2451C>A (p.Tyr817Ter) c.7239C>A (p.Tyr2413Ter) c.*6981C>A (n.*6981C>A) n.5673C>A c.7350C>A (p.Tyr2450Ter) c.7266C>A (p.Tyr2422Ter) c.7236C>A (p.Tyr2412Ter) c.7188C>A (p.Tyr2396Ter) c.7149C>A (p.Tyr2383Ter) c.7074C>A (p.Tyr2358Ter) n.8945C>A c.7263C>A (p.Tyr2421Ter) c.7233C>A (p.Tyr2411Ter) c.7185C>A (p.Tyr2395Ter) c.7152C>A (p.Tyr2384Ter) c.7122C>A (p.Tyr2374Ter) c.7119C>A (p.Tyr2373Ter) c.7071C>A (p.Tyr2357Ter) c.7035C>A (p.Tyr2345Ter) c.7032C>A (p.Tyr2344Ter) c.6987C>A (p.Tyr2329Ter) n.7652C>A | dbSNP |
X | g.77508478T>A | CA413704205 | ATRX | c.7352A>T (p.Tyr2451Phe) c.2450A>T (p.Tyr817Phe) c.7238A>T (p.Tyr2413Phe) c.*6980A>T (n.*6980A>T) n.5672A>T c.7349A>T (p.Tyr2450Phe) c.7265A>T (p.Tyr2422Phe) c.7235A>T (p.Tyr2412Phe) c.7187A>T (p.Tyr2396Phe) c.7148A>T (p.Tyr2383Phe) c.7073A>T (p.Tyr2358Phe) n.8944A>T c.7262A>T (p.Tyr2421Phe) c.7232A>T (p.Tyr2411Phe) c.7184A>T (p.Tyr2395Phe) c.7151A>T (p.Tyr2384Phe) c.7121A>T (p.Tyr2374Phe) c.7118A>T (p.Tyr2373Phe) c.7070A>T (p.Tyr2357Phe) c.7034A>T (p.Tyr2345Phe) c.7031A>T (p.Tyr2344Phe) c.6986A>T (p.Tyr2329Phe) n.7651A>T | dbSNP |
X | g.77508478T>C | CA413704209 | ATRX | c.7352A>G (p.Tyr2451Cys) c.2450A>G (p.Tyr817Cys) c.7238A>G (p.Tyr2413Cys) c.*6980A>G (n.*6980A>G) n.5672A>G c.7349A>G (p.Tyr2450Cys) c.7265A>G (p.Tyr2422Cys) c.7235A>G (p.Tyr2412Cys) c.7187A>G (p.Tyr2396Cys) c.7148A>G (p.Tyr2383Cys) c.7073A>G (p.Tyr2358Cys) n.8944A>G c.7262A>G (p.Tyr2421Cys) c.7232A>G (p.Tyr2411Cys) c.7184A>G (p.Tyr2395Cys) c.7151A>G (p.Tyr2384Cys) c.7121A>G (p.Tyr2374Cys) c.7118A>G (p.Tyr2373Cys) c.7070A>G (p.Tyr2357Cys) c.7034A>G (p.Tyr2345Cys) c.7031A>G (p.Tyr2344Cys) c.6986A>G (p.Tyr2329Cys) n.7651A>G | |
X | g.77508478T>G | CA413704216 | ATRX | c.7352A>C (p.Tyr2451Ser) c.2450A>C (p.Tyr817Ser) c.7238A>C (p.Tyr2413Ser) c.*6980A>C (n.*6980A>C) n.5672A>C c.7349A>C (p.Tyr2450Ser) c.7265A>C (p.Tyr2422Ser) c.7235A>C (p.Tyr2412Ser) c.7187A>C (p.Tyr2396Ser) c.7148A>C (p.Tyr2383Ser) c.7073A>C (p.Tyr2358Ser) n.8944A>C c.7262A>C (p.Tyr2421Ser) c.7232A>C (p.Tyr2411Ser) c.7184A>C (p.Tyr2395Ser) c.7151A>C (p.Tyr2384Ser) c.7121A>C (p.Tyr2374Ser) c.7118A>C (p.Tyr2373Ser) c.7070A>C (p.Tyr2357Ser) c.7034A>C (p.Tyr2345Ser) c.7031A>C (p.Tyr2344Ser) c.6986A>C (p.Tyr2329Ser) n.7651A>C | dbSNP |