UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.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.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 |
| X | g.77508479A>C | CA413704220 | ATRX | c.7351T>G (p.Tyr2451Asp) c.2449T>G (p.Tyr817Asp) c.7237T>G (p.Tyr2413Asp) c.*6979T>G (n.*6979T>G) n.5671T>G c.7348T>G (p.Tyr2450Asp) c.7264T>G (p.Tyr2422Asp) c.7234T>G (p.Tyr2412Asp) c.7186T>G (p.Tyr2396Asp) c.7147T>G (p.Tyr2383Asp) c.7072T>G (p.Tyr2358Asp) n.8943T>G c.7261T>G (p.Tyr2421Asp) c.7231T>G (p.Tyr2411Asp) c.7183T>G (p.Tyr2395Asp) c.7150T>G (p.Tyr2384Asp) c.7120T>G (p.Tyr2374Asp) c.7117T>G (p.Tyr2373Asp) c.7069T>G (p.Tyr2357Asp) c.7033T>G (p.Tyr2345Asp) c.7030T>G (p.Tyr2344Asp) c.6985T>G (p.Tyr2329Asp) n.7650T>G | |
| X | g.77508479A>G | CA413704217 | ATRX | c.7351T>C (p.Tyr2451His) c.2449T>C (p.Tyr817His) c.7237T>C (p.Tyr2413His) c.*6979T>C (n.*6979T>C) n.5671T>C c.7348T>C (p.Tyr2450His) c.7264T>C (p.Tyr2422His) c.7234T>C (p.Tyr2412His) c.7186T>C (p.Tyr2396His) c.7147T>C (p.Tyr2383His) c.7072T>C (p.Tyr2358His) n.8943T>C c.7261T>C (p.Tyr2421His) c.7231T>C (p.Tyr2411His) c.7183T>C (p.Tyr2395His) c.7150T>C (p.Tyr2384His) c.7120T>C (p.Tyr2374His) c.7117T>C (p.Tyr2373His) c.7069T>C (p.Tyr2357His) c.7033T>C (p.Tyr2345His) c.7030T>C (p.Tyr2344His) c.6985T>C (p.Tyr2329His) n.7650T>C | |
| X | g.77508479A>T | CA413704218 | ATRX | c.7351T>A (p.Tyr2451Asn) c.2449T>A (p.Tyr817Asn) c.7237T>A (p.Tyr2413Asn) c.*6979T>A (n.*6979T>A) n.5671T>A c.7348T>A (p.Tyr2450Asn) c.7264T>A (p.Tyr2422Asn) c.7234T>A (p.Tyr2412Asn) c.7186T>A (p.Tyr2396Asn) c.7147T>A (p.Tyr2383Asn) c.7072T>A (p.Tyr2358Asn) n.8943T>A c.7261T>A (p.Tyr2421Asn) c.7231T>A (p.Tyr2411Asn) c.7183T>A (p.Tyr2395Asn) c.7150T>A (p.Tyr2384Asn) c.7120T>A (p.Tyr2374Asn) c.7117T>A (p.Tyr2373Asn) c.7069T>A (p.Tyr2357Asn) c.7033T>A (p.Tyr2345Asn) c.7030T>A (p.Tyr2344Asn) c.6985T>A (p.Tyr2329Asn) n.7650T>A | dbSNP |
| X | g.77508480G>A | CA517374091 | ATRX | c.7350C>T (p.Asn2450=) c.2448C>T (p.Asn816=) c.7236C>T (p.Asn2412=) c.*6978C>T (n.*6978C>T) n.5670C>T c.7347C>T (p.Asn2449=) c.7263C>T (p.Asn2421=) c.7233C>T (p.Asn2411=) c.7185C>T (p.Asn2395=) c.7146C>T (p.Asn2382=) c.7071C>T (p.Asn2357=) n.8942C>T c.7260C>T (p.Asn2420=) c.7230C>T (p.Asn2410=) c.7182C>T (p.Asn2394=) c.7149C>T (p.Asn2383=) c.7119C>T (p.Asn2373=) c.7116C>T (p.Asn2372=) c.7068C>T (p.Asn2356=) c.7032C>T (p.Asn2344=) c.7029C>T (p.Asn2343=) c.6984C>T (p.Asn2328=) n.7649C>T | ClinVar dbSNP gnomAD v4 |