| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.77508274_77508278del | CA2694139213 | ATRX | c.*76_*80del (n.*76_*80del) c.*7183_*7187del (n.*7183_*7187del) n.5875_5879del n.9147_9151del n.7854_7858del | gnomAD v4 |
| X | g.77508278T>A | CA2519729420 | ATRX | c.*73A>T (n.*73A>T) c.*7180A>T (n.*7180A>T) n.5872A>T n.9144A>T n.7851A>T | |
| X | g.77508279A>T | CA2694139217 | ATRX | c.*72T>A (n.*72T>A) c.*7179T>A (n.*7179T>A) n.5871T>A n.9143T>A n.7850T>A | gnomAD v4 |
| X | g.77508283C>T | CA2694139218 | ATRX | c.*68G>A (n.*68G>A) c.*7175G>A (n.*7175G>A) n.5867G>A n.9139G>A n.7846G>A | gnomAD v4 |
| X | g.77508284A= | CA2438928985 | ATRX | c.*67T= (n.*67T=) c.*7174T= (n.*7174T=) n.5866T= n.9138T= n.7845T= | |
| X | g.77508284A>C | CA2438928986 | ATRX | c.*67T>G (n.*67T>G) c.*7174T>G (n.*7174T>G) n.5866T>G n.9138T>G n.7845T>G | dbSNP |
| X | g.77508284A>G | CA2579648632 | ATRX | c.*67T>C (n.*67T>C) c.*7174T>C (n.*7174T>C) n.5866T>C n.9138T>C n.7845T>C | |
| X | g.77508285T>C | CA2694139219 | ATRX | c.*66A>G (n.*66A>G) c.*7173A>G (n.*7173A>G) n.5865A>G n.9137A>G n.7844A>G | gnomAD v4 |
| X | g.77508287G>T | CA2694139220 | ATRX | c.*64C>A (n.*64C>A) c.*7171C>A (n.*7171C>A) n.5863C>A n.9135C>A n.7842C>A | gnomAD v4 |
| X | g.77508288A>T | CA2738724143 | ATRX | c.*63T>A (n.*63T>A) c.*7170T>A (n.*7170T>A) n.5862T>A n.9134T>A n.7841T>A | dbSNP |
| X | g.77508290T>G | CA878452675 | ATRX | c.*61A>C (n.*61A>C) c.*7168A>C (n.*7168A>C) n.5860A>C n.9132A>C n.7839A>C | dbSNP gnomAD v3 gnomAD v4 |
| X | g.77508290T= | CA2438928987 | ATRX | c.*61A= (n.*61A=) c.*7168A= (n.*7168A=) n.5860A= n.9132A= n.7839A= | |
| X | g.77508291C>A | CA2821942717 | ATRX | c.*60G>T (n.*60G>T) c.*7167G>T (n.*7167G>T) n.5859G>T n.9131G>T n.7838G>T | |
| X | g.77508291C>G | CA2738724144 | ATRX | c.*60G>C (n.*60G>C) c.*7167G>C (n.*7167G>C) n.5859G>C n.9131G>C n.7838G>C | dbSNP |
| X | g.77508293T>C | CA2694139221 | ATRX | c.*58A>G (n.*58A>G) c.*7165A>G (n.*7165A>G) n.5857A>G n.9129A>G n.7836A>G | gnomAD v4 |
| X | g.77508293_77508294delinsTA | CA2438928988 | ATRX | c.*57_*58delinsTA (n.*57_*58delinsTA) c.*7164_*7165delinsTA (n.*7164_*7165delinsTA) n.5856_5857delinsTA n.9128_9129delinsTA n.7835_7836delinsTA | |
| X | g.77508294A= | CA2438928989 | ATRX | c.*57T= (n.*57T=) c.*7164T= (n.*7164T=) n.5856T= n.9128T= n.7835T= | |
| X | g.77508294A>T | CA643006397 | ATRX | c.*57T>A (n.*57T>A) c.*7164T>A (n.*7164T>A) n.5856T>A n.9128T>A n.7835T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.77508300dup | CA643006396 | ATRX | c.*57dup (n.*57dup) c.*7164dup (n.*7164dup) n.5856dup n.9128dup n.7835dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.77508300del | CA878452676 | ATRX | c.*57del (n.*57del) c.*7164del (n.*7164del) n.5856del n.9128del n.7835del | dbSNP gnomAD v4 |
| X | g.77508297A= | CA2438928990 | ATRX | c.*54T= (n.*54T=) c.*7161T= (n.*7161T=) n.5853T= n.9125T= n.7832T= | |
| X | g.77508297A>G | CA331560026 | ATRX | c.*54T>C (n.*54T>C) c.*7161T>C (n.*7161T>C) n.5853T>C n.9125T>C n.7832T>C | dbSNP |
| X | g.77508297A>T | CA2579648633 | ATRX | c.*54T>A (n.*54T>A) c.*7161T>A (n.*7161T>A) n.5853T>A n.9125T>A n.7832T>A | |
| X | g.77508301_77508305del | CA2694139222 | ATRX | c.*50_*54del (n.*50_*54del) c.*7157_*7161del (n.*7157_*7161del) n.5849_5853del n.9121_9125del n.7828_7832del | gnomAD v4 |
| X | g.77508299A= | CA2438928991 | ATRX | c.*52T= (n.*52T=) c.*7159T= (n.*7159T=) n.5851T= n.9123T= n.7830T= | |
| X | g.77508299A>T | CA331560027 | ATRX | c.*52T>A (n.*52T>A) c.*7159T>A (n.*7159T>A) n.5851T>A n.9123T>A n.7830T>A | dbSNP gnomAD v3 gnomAD v4 |
| X | g.77508300A= | CA2438928993 | ATRX | c.*51T= (n.*51T=) c.*7158T= (n.*7158T=) n.5850T= n.9122T= n.7829T= | |
| X | g.77508300A>C | CA643006398 | ATRX | c.*51T>G (n.*51T>G) c.*7158T>G (n.*7158T>G) n.5850T>G n.9122T>G n.7829T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.77508300_77508301delinsAT | CA2438928992 | ATRX | c.*50_*51delinsAT (n.*50_*51delinsAT) c.*7157_*7158delinsAT (n.*7157_*7158delinsAT) n.5849_5850delinsAT n.9121_9122delinsAT n.7828_7829delinsAT | |
| X | g.77508301del | CA331560028 | ATRX | c.*50del (n.*50del) c.*7157del (n.*7157del) n.5849del n.9121del n.7828del | dbSNP gnomAD v2 gnomAD v4 |
| X | g.77508305del | CA2738724147 | ATRX | c.*49del (n.*49del) c.*7156del (n.*7156del) n.5848del n.9120del n.7827del | dbSNP |
| X | g.77508306G>A | CA2438928995 | ATRX | c.*45C>T (n.*45C>T) c.*7152C>T (n.*7152C>T) n.5844C>T n.9116C>T n.7823C>T | dbSNP gnomAD v4 |
| X | g.77508306G= | CA2438928994 | ATRX | c.*45C= (n.*45C=) c.*7152C= (n.*7152C=) n.5844C= n.9116C= n.7823C= | |
| X | g.77508307_77508311delinsATCTT | CA2438928996 | ATRX | c.*40_*44delinsAAGAT (n.*40_*44delinsAAGAT) c.*7147_*7151delinsAAGAT (n.*7147_*7151delinsAAGAT) n.5839_5843delinsAAGAT n.9111_9115delinsAAGAT n.7818_7822delinsAAGAT | |
| X | g.77508308T>C | CA2821942718 | ATRX | c.*43A>G (n.*43A>G) c.*7150A>G (n.*7150A>G) n.5842A>G n.9114A>G n.7821A>G | |
| X | g.77508311_77508314del | CA878452683 | ATRX | c.*40_*43del (n.*40_*43del) c.*7147_*7150del (n.*7147_*7150del) n.5839_5842del n.9111_9114del n.7818_7821del | dbSNP gnomAD v4 |
| X | g.77508309C>A | CA2694139223 | ATRX | c.*42G>T (n.*42G>T) c.*7149G>T (n.*7149G>T) n.5841G>T n.9113G>T n.7820G>T | gnomAD v4 |
| X | g.77508314T>C | CA2694139224 | ATRX | c.*37A>G (n.*37A>G) c.*7144A>G (n.*7144A>G) n.5836A>G n.9108A>G n.7815A>G | gnomAD v4 |
| X | g.77508315A= | CA2438928997 | ATRX | c.*36T= (n.*36T=) c.*7143T= (n.*7143T=) n.5835T= n.9107T= n.7814T= | |
| X | g.77508315A>G | CA10457367 | ATRX | c.*36T>C (n.*36T>C) c.*7143T>C (n.*7143T>C) n.5835T>C n.9107T>C n.7814T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.77508316T>A | CA2694139225 | ATRX | c.*35A>T (n.*35A>T) c.*7142A>T (n.*7142A>T) n.5834A>T n.9106A>T n.7813A>T | gnomAD v4 |
| X | g.77508316T>C | CA331560029 | ATRX | c.*35A>G (n.*35A>G) c.*7142A>G (n.*7142A>G) n.5834A>G n.9106A>G n.7813A>G | dbSNP gnomAD v4 |
| X | g.77508316T= | CA2438928998 | ATRX | c.*35A= (n.*35A=) c.*7142A= (n.*7142A=) n.5834A= n.9106A= n.7813A= | |
| X | g.77508317G>C | CA2579648634 | ATRX | c.*34C>G (n.*34C>G) c.*7141C>G (n.*7141C>G) n.5833C>G n.9105C>G n.7812C>G | |
| X | g.77508317G>T | CA2694139226 | ATRX | c.*34C>A (n.*34C>A) c.*7141C>A (n.*7141C>A) n.5833C>A n.9105C>A n.7812C>A | gnomAD v4 |
| X | g.77508318A= | CA2438928999 | ATRX | c.*33T= (n.*33T=) c.*7140T= (n.*7140T=) n.5832T= n.9104T= n.7811T= | |
| X | g.77508322dup | CA643006399 | ATRX | c.*32dup (n.*32dup) c.*7139dup (n.*7139dup) n.5831dup n.9103dup n.7810dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.77508321T>C | CA2571147576 | ATRX | c.*30A>G (n.*30A>G) c.*7137A>G (n.*7137A>G) n.5829A>G n.9101A>G n.7808A>G | |
| X | g.77508322T>A | CA2694139227 | ATRX | c.*29A>T (n.*29A>T) c.*7136A>T (n.*7136A>T) n.5828A>T n.9100A>T n.7807A>T | gnomAD v4 |
| X | g.77508322T>C | CA10457368 | ATRX | c.*29A>G (n.*29A>G) c.*7136A>G (n.*7136A>G) n.5828A>G n.9100A>G n.7807A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.77508322T= | CA2438929000 | ATRX | c.*29A= (n.*29A=) c.*7136A= (n.*7136A=) n.5828A= n.9100A= n.7807A= | |
| X | g.77508325C>A | CA878452687 | ATRX | c.*26G>T (n.*26G>T) c.*7133G>T (n.*7133G>T) n.5825G>T n.9097G>T n.7804G>T | dbSNP |
| X | g.77508325C= | CA2438929001 | ATRX | c.*26G= (n.*26G=) c.*7133G= (n.*7133G=) n.5825G= n.9097G= n.7804G= | |
| X | g.77508325C>T | CA10457369 | ATRX | c.*26G>A (n.*26G>A) c.*7133G>A (n.*7133G>A) n.5825G>A n.9097G>A n.7804G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.77508327_77508328delinsAT | CA2438929002 | ATRX | c.*23_*24delinsAT (n.*23_*24delinsAT) c.*7130_*7131delinsAT (n.*7130_*7131delinsAT) n.5822_5823delinsAT n.9094_9095delinsAT n.7801_7802delinsAT | |
| X | g.77508327_77508328insC | CA2545651797 | ATRX | c.*23_*24insG (n.*23_*24insG) c.*7130_*7131insG (n.*7130_*7131insG) n.5822_5823insG n.9094_9095insG n.7801_7802insG | |
| X | g.77508328del | CA2438929003 | ATRX | c.*23del (n.*23del) c.*7130del (n.*7130del) n.5822del n.9094del n.7801del | dbSNP gnomAD v4 |
| X | g.77508330del | CA2694139228 | ATRX | c.*22del (n.*22del) c.*7129del (n.*7129del) n.5821del n.9093del n.7800del | gnomAD v4 |
| X | g.77508330C= | CA2438929004 | ATRX | c.*21G= (n.*21G=) c.*7128G= (n.*7128G=) n.5820G= n.9092G= n.7799G= | |
| X | g.77508330C>T | CA2438929005 | ATRX | c.*21G>A (n.*21G>A) c.*7128G>A (n.*7128G>A) n.5820G>A n.9092G>A n.7799G>A | dbSNP |
| X | g.77508331A>T | CA2513502861 | ATRX | c.*20T>A (n.*20T>A) c.*7127T>A (n.*7127T>A) n.5819T>A n.9091T>A n.7798T>A | |
| X | g.77508332T>C | CA1134479880 | ATRX | c.*19A>G (n.*19A>G) c.*7126A>G (n.*7126A>G) n.5818A>G n.9090A>G n.7797A>G | dbSNP gnomAD v3 gnomAD v4 |
| X | g.77508332T= | CA2438929006 | ATRX | c.*19A= (n.*19A=) c.*7126A= (n.*7126A=) n.5818A= n.9090A= n.7797A= | |
| X | g.77508335dup | CA2579648635 | ATRX | c.*17dup (n.*17dup) c.*7124dup (n.*7124dup) n.5816dup n.9088dup n.7795dup | |
| X | g.77508335A= | CA2438929007 | ATRX | c.*16T= (n.*16T=) c.*7123T= (n.*7123T=) n.5815T= n.9087T= n.7794T= | |
| X | g.77508335A>C | CA2438929008 | ATRX | c.*16T>G (n.*16T>G) c.*7123T>G (n.*7123T>G) n.5815T>G n.9087T>G n.7794T>G | dbSNP gnomAD v4 |
| X | g.77508335A>G | CA2559533514 | ATRX | c.*16T>C (n.*16T>C) c.*7123T>C (n.*7123T>C) n.5815T>C n.9087T>C n.7794T>C | |
| X | g.77508336G>A | CA2694139229 | ATRX | c.*15C>T (n.*15C>T) c.*7122C>T (n.*7122C>T) n.5814C>T n.9086C>T n.7793C>T | gnomAD v4 |
| X | g.77508336G>T | CA2564508273 | ATRX | c.*15C>A (n.*15C>A) c.*7122C>A (n.*7122C>A) n.5814C>A n.9086C>A n.7793C>A | |
| X | g.77508338T>C | CA10457370 | ATRX | c.*13A>G (n.*13A>G) c.*7120A>G (n.*7120A>G) n.5812A>G n.9084A>G n.7791A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.77508338T= | CA2438929009 | ATRX | c.*13A= (n.*13A=) c.*7120A= (n.*7120A=) n.5812A= n.9084A= n.7791A= | |
| X | g.77508340T>G | CA331560030 | ATRX | c.*11A>C (n.*11A>C) c.*7118A>C (n.*7118A>C) n.5810A>C n.9082A>C n.7789A>C | dbSNP |
| X | g.77508340T= | CA2438929010 | ATRX | c.*11A= (n.*11A=) c.*7118A= (n.*7118A=) n.5810A= n.9082A= n.7789A= | |
| X | g.77508341T>C | CA331560031 | ATRX | c.*10A>G (n.*10A>G) c.*7117A>G (n.*7117A>G) n.5809A>G n.9081A>G n.7788A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.77508341T= | CA2438929011 | ATRX | c.*10A= (n.*10A=) c.*7117A= (n.*7117A=) n.5809A= n.9081A= n.7788A= | |
| X | g.77508342A>T | CA2738724149 | ATRX | c.*9T>A (n.*9T>A) c.*7116T>A (n.*7116T>A) n.5808T>A n.9080T>A n.7787T>A | dbSNP |
| X | g.77508344T>C | CA2579648636 | ATRX | c.*7A>G (n.*7A>G) c.*7114A>G (n.*7114A>G) n.5806A>G n.9078A>G n.7785A>G | |
| X | g.77508345G>A | CA2738724151 | ATRX | c.*6C>T (n.*6C>T) c.*7113C>T (n.*7113C>T) n.5805C>T n.9077C>T n.7784C>T | dbSNP |
| X | g.77508346C>A | CA2438929013 | ATRX | c.*5G>T (n.*5G>T) c.*7112G>T (n.*7112G>T) n.5804G>T n.9076G>T n.7783G>T | dbSNP |
| X | g.77508346C= | CA2438929012 | ATRX | c.*5G= (n.*5G=) c.*7112G= (n.*7112G=) n.5804G= n.9076G= n.7783G= | |
| X | g.77508346C>G | CA2694139230 | ATRX | c.*5G>C (n.*5G>C) c.*7112G>C (n.*7112G>C) n.5804G>C n.9076G>C n.7783G>C | gnomAD v4 |
| X | g.77508346C>T | CA2738571424 | ATRX | c.*5G>A (n.*5G>A) c.*7112G>A (n.*7112G>A) n.5804G>A n.9076G>A n.7783G>A | dbSNP |
| X | g.77508347A= | CA2438929014 | ATRX | c.*4T= (n.*4T=) c.*7111T= (n.*7111T=) n.5803T= n.9075T= n.7782T= | |
| X | g.77508347A>G | CA643006400 | ATRX | c.*4T>C (n.*4T>C) c.*7111T>C (n.*7111T>C) n.5803T>C n.9075T>C n.7782T>C | dbSNP gnomAD v2 gnomAD v4 |
| X | g.77508350dup | CA10457371 | ATRX | c.*4dup (n.*4dup) c.*7111dup (n.*7111dup) n.5803dup n.9075dup n.7782dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.77508351T>A | CA413703300 | ATRX | c.7479A>T (p.Ter2493Cys) c.2577A>T (p.Ter859Cys) c.7365A>T (p.Ter2455Cys) c.*7107A>T (n.*7107A>T) n.5799A>T c.7476A>T (p.Ter2492Cys) c.7392A>T (p.Ter2464Cys) c.7362A>T (p.Ter2454Cys) c.7314A>T (p.Ter2438Cys) c.7275A>T (p.Ter2425Cys) c.7200A>T (p.Ter2400Cys) n.9071A>T c.7389A>T (p.Ter2463Cys) c.7359A>T (p.Ter2453Cys) c.7311A>T (p.Ter2437Cys) c.7278A>T (p.Ter2426Cys) c.7248A>T (p.Ter2416Cys) c.7245A>T (p.Ter2415Cys) c.7197A>T (p.Ter2399Cys) c.7161A>T (p.Ter2387Cys) c.7158A>T (p.Ter2386Cys) c.7113A>T (p.Ter2371Cys) n.7778A>T | |
| X | g.77508351T>C | CA413703304 | ATRX | c.7479A>G (p.Ter2493Trp) c.2577A>G (p.Ter859Trp) c.7365A>G (p.Ter2455Trp) c.*7107A>G (n.*7107A>G) n.5799A>G c.7476A>G (p.Ter2492Trp) c.7392A>G (p.Ter2464Trp) c.7362A>G (p.Ter2454Trp) c.7314A>G (p.Ter2438Trp) c.7275A>G (p.Ter2425Trp) c.7200A>G (p.Ter2400Trp) n.9071A>G c.7389A>G (p.Ter2463Trp) c.7359A>G (p.Ter2453Trp) c.7311A>G (p.Ter2437Trp) c.7278A>G (p.Ter2426Trp) c.7248A>G (p.Ter2416Trp) c.7245A>G (p.Ter2415Trp) c.7197A>G (p.Ter2399Trp) c.7161A>G (p.Ter2387Trp) c.7158A>G (p.Ter2386Trp) c.7113A>G (p.Ter2371Trp) n.7778A>G | |
| X | g.77508351T>G | CA413703307 | ATRX | c.7479A>C (p.Ter2493Cys) c.2577A>C (p.Ter859Cys) c.7365A>C (p.Ter2455Cys) c.*7107A>C (n.*7107A>C) n.5799A>C c.7476A>C (p.Ter2492Cys) c.7392A>C (p.Ter2464Cys) c.7362A>C (p.Ter2454Cys) c.7314A>C (p.Ter2438Cys) c.7275A>C (p.Ter2425Cys) c.7200A>C (p.Ter2400Cys) n.9071A>C c.7389A>C (p.Ter2463Cys) c.7359A>C (p.Ter2453Cys) c.7311A>C (p.Ter2437Cys) c.7278A>C (p.Ter2426Cys) c.7248A>C (p.Ter2416Cys) c.7245A>C (p.Ter2415Cys) c.7197A>C (p.Ter2399Cys) c.7161A>C (p.Ter2387Cys) c.7158A>C (p.Ter2386Cys) c.7113A>C (p.Ter2371Cys) n.7778A>C | |
| X | g.77508352C>A | CA413703312 | ATRX | c.7478G>T (p.Ter2493Leu) c.2576G>T (p.Ter859Leu) c.7364G>T (p.Ter2455Leu) c.*7106G>T (n.*7106G>T) n.5798G>T c.7475G>T (p.Ter2492Leu) c.7391G>T (p.Ter2464Leu) c.7361G>T (p.Ter2454Leu) c.7313G>T (p.Ter2438Leu) c.7274G>T (p.Ter2425Leu) c.7199G>T (p.Ter2400Leu) n.9070G>T c.7388G>T (p.Ter2463Leu) c.7358G>T (p.Ter2453Leu) c.7310G>T (p.Ter2437Leu) c.7277G>T (p.Ter2426Leu) c.7247G>T (p.Ter2416Leu) c.7244G>T (p.Ter2415Leu) c.7196G>T (p.Ter2399Leu) c.7160G>T (p.Ter2387Leu) c.7157G>T (p.Ter2386Leu) c.7112G>T (p.Ter2371Leu) n.7777G>T | |
| X | g.77508352C>G | CA413703311 | ATRX | c.7478G>C (p.Ter2493Ser) c.2576G>C (p.Ter859Ser) c.7364G>C (p.Ter2455Ser) c.*7106G>C (n.*7106G>C) n.5798G>C c.7475G>C (p.Ter2492Ser) c.7391G>C (p.Ter2464Ser) c.7361G>C (p.Ter2454Ser) c.7313G>C (p.Ter2438Ser) c.7274G>C (p.Ter2425Ser) c.7199G>C (p.Ter2400Ser) n.9070G>C c.7388G>C (p.Ter2463Ser) c.7358G>C (p.Ter2453Ser) c.7310G>C (p.Ter2437Ser) c.7277G>C (p.Ter2426Ser) c.7247G>C (p.Ter2416Ser) c.7244G>C (p.Ter2415Ser) c.7196G>C (p.Ter2399Ser) c.7160G>C (p.Ter2387Ser) c.7157G>C (p.Ter2386Ser) c.7112G>C (p.Ter2371Ser) n.7777G>C | |
| X | g.77508352C>T | CA517373944 | ATRX | c.7478G>A (p.Ter2493=) c.2576G>A (p.Ter859=) c.7364G>A (p.Ter2455=) c.*7106G>A (n.*7106G>A) n.5798G>A c.7475G>A (p.Ter2492=) c.7391G>A (p.Ter2464=) c.7361G>A (p.Ter2454=) c.7313G>A (p.Ter2438=) c.7274G>A (p.Ter2425=) c.7199G>A (p.Ter2400=) n.9070G>A c.7388G>A (p.Ter2463=) c.7358G>A (p.Ter2453=) c.7310G>A (p.Ter2437=) c.7277G>A (p.Ter2426=) c.7247G>A (p.Ter2416=) c.7244G>A (p.Ter2415=) c.7196G>A (p.Ter2399=) c.7160G>A (p.Ter2387=) c.7157G>A (p.Ter2386=) c.7112G>A (p.Ter2371=) n.7777G>A | |
| X | g.77508353A>C | CA413703313 | ATRX | c.7477T>G (p.Ter2493Gly) c.2575T>G (p.Ter859Gly) c.7363T>G (p.Ter2455Gly) c.*7105T>G (n.*7105T>G) n.5797T>G c.7474T>G (p.Ter2492Gly) c.7390T>G (p.Ter2464Gly) c.7360T>G (p.Ter2454Gly) c.7312T>G (p.Ter2438Gly) c.7273T>G (p.Ter2425Gly) c.7198T>G (p.Ter2400Gly) n.9069T>G c.7387T>G (p.Ter2463Gly) c.7357T>G (p.Ter2453Gly) c.7309T>G (p.Ter2437Gly) c.7276T>G (p.Ter2426Gly) c.7246T>G (p.Ter2416Gly) c.7243T>G (p.Ter2415Gly) c.7195T>G (p.Ter2399Gly) c.7159T>G (p.Ter2387Gly) c.7156T>G (p.Ter2386Gly) c.7111T>G (p.Ter2371Gly) n.7776T>G | |
| X | g.77508353A>G | CA413703316 | ATRX | c.7477T>C (p.Ter2493Arg) c.2575T>C (p.Ter859Arg) c.7363T>C (p.Ter2455Arg) c.*7105T>C (n.*7105T>C) n.5797T>C c.7474T>C (p.Ter2492Arg) c.7390T>C (p.Ter2464Arg) c.7360T>C (p.Ter2454Arg) c.7312T>C (p.Ter2438Arg) c.7273T>C (p.Ter2425Arg) c.7198T>C (p.Ter2400Arg) n.9069T>C c.7387T>C (p.Ter2463Arg) c.7357T>C (p.Ter2453Arg) c.7309T>C (p.Ter2437Arg) c.7276T>C (p.Ter2426Arg) c.7246T>C (p.Ter2416Arg) c.7243T>C (p.Ter2415Arg) c.7195T>C (p.Ter2399Arg) c.7159T>C (p.Ter2387Arg) c.7156T>C (p.Ter2386Arg) c.7111T>C (p.Ter2371Arg) n.7776T>C | |
| X | g.77508353A>T | CA413703338 | ATRX | c.7477T>A (p.Ter2493Arg) c.2575T>A (p.Ter859Arg) c.7363T>A (p.Ter2455Arg) c.*7105T>A (n.*7105T>A) n.5797T>A c.7474T>A (p.Ter2492Arg) c.7390T>A (p.Ter2464Arg) c.7360T>A (p.Ter2454Arg) c.7312T>A (p.Ter2438Arg) c.7273T>A (p.Ter2425Arg) c.7198T>A (p.Ter2400Arg) n.9069T>A c.7387T>A (p.Ter2463Arg) c.7357T>A (p.Ter2453Arg) c.7309T>A (p.Ter2437Arg) c.7276T>A (p.Ter2426Arg) c.7246T>A (p.Ter2416Arg) c.7243T>A (p.Ter2415Arg) c.7195T>A (p.Ter2399Arg) c.7159T>A (p.Ter2387Arg) c.7156T>A (p.Ter2386Arg) c.7111T>A (p.Ter2371Arg) n.7776T>A | |
| X | g.77508354C>A | CA413703339 | ATRX | c.7476G>T (p.Met2492Ile) c.2574G>T (p.Met858Ile) c.7362G>T (p.Met2454Ile) c.*7104G>T (n.*7104G>T) n.5796G>T c.7473G>T (p.Met2491Ile) c.7389G>T (p.Met2463Ile) c.7359G>T (p.Met2453Ile) c.7311G>T (p.Met2437Ile) c.7272G>T (p.Met2424Ile) c.7197G>T (p.Met2399Ile) n.9068G>T c.7386G>T (p.Met2462Ile) c.7356G>T (p.Met2452Ile) c.7308G>T (p.Met2436Ile) c.7275G>T (p.Met2425Ile) c.7245G>T (p.Met2415Ile) c.7242G>T (p.Met2414Ile) c.7194G>T (p.Met2398Ile) c.7158G>T (p.Met2386Ile) c.7155G>T (p.Met2385Ile) c.7110G>T (p.Met2370Ile) n.7775G>T | |
| X | g.77508354C>G | CA413703340 | ATRX | c.7476G>C (p.Met2492Ile) c.2574G>C (p.Met858Ile) c.7362G>C (p.Met2454Ile) c.*7104G>C (n.*7104G>C) n.5796G>C c.7473G>C (p.Met2491Ile) c.7389G>C (p.Met2463Ile) c.7359G>C (p.Met2453Ile) c.7311G>C (p.Met2437Ile) c.7272G>C (p.Met2424Ile) c.7197G>C (p.Met2399Ile) n.9068G>C c.7386G>C (p.Met2462Ile) c.7356G>C (p.Met2452Ile) c.7308G>C (p.Met2436Ile) c.7275G>C (p.Met2425Ile) c.7245G>C (p.Met2415Ile) c.7242G>C (p.Met2414Ile) c.7194G>C (p.Met2398Ile) c.7158G>C (p.Met2386Ile) c.7155G>C (p.Met2385Ile) c.7110G>C (p.Met2370Ile) n.7775G>C | |
| X | g.77508354C>T | CA413703344 | ATRX | c.7476G>A (p.Met2492Ile) c.2574G>A (p.Met858Ile) c.7362G>A (p.Met2454Ile) c.*7104G>A (n.*7104G>A) n.5796G>A c.7473G>A (p.Met2491Ile) c.7389G>A (p.Met2463Ile) c.7359G>A (p.Met2453Ile) c.7311G>A (p.Met2437Ile) c.7272G>A (p.Met2424Ile) c.7197G>A (p.Met2399Ile) n.9068G>A c.7386G>A (p.Met2462Ile) c.7356G>A (p.Met2452Ile) c.7308G>A (p.Met2436Ile) c.7275G>A (p.Met2425Ile) c.7245G>A (p.Met2415Ile) c.7242G>A (p.Met2414Ile) c.7194G>A (p.Met2398Ile) c.7158G>A (p.Met2386Ile) c.7155G>A (p.Met2385Ile) c.7110G>A (p.Met2370Ile) n.7775G>A | |
| X | g.77508355A>C | CA413703351 | ATRX | c.7475T>G (p.Met2492Arg) c.2573T>G (p.Met858Arg) c.7361T>G (p.Met2454Arg) c.*7103T>G (n.*7103T>G) n.5795T>G c.7472T>G (p.Met2491Arg) c.7388T>G (p.Met2463Arg) c.7358T>G (p.Met2453Arg) c.7310T>G (p.Met2437Arg) c.7271T>G (p.Met2424Arg) c.7196T>G (p.Met2399Arg) n.9067T>G c.7385T>G (p.Met2462Arg) c.7355T>G (p.Met2452Arg) c.7307T>G (p.Met2436Arg) c.7274T>G (p.Met2425Arg) c.7244T>G (p.Met2415Arg) c.7241T>G (p.Met2414Arg) c.7193T>G (p.Met2398Arg) c.7157T>G (p.Met2386Arg) c.7154T>G (p.Met2385Arg) c.7109T>G (p.Met2370Arg) n.7774T>G | |
| X | g.77508355A>G | CA413703354 | ATRX | c.7475T>C (p.Met2492Thr) c.2573T>C (p.Met858Thr) c.7361T>C (p.Met2454Thr) c.*7103T>C (n.*7103T>C) n.5795T>C c.7472T>C (p.Met2491Thr) c.7388T>C (p.Met2463Thr) c.7358T>C (p.Met2453Thr) c.7310T>C (p.Met2437Thr) c.7271T>C (p.Met2424Thr) c.7196T>C (p.Met2399Thr) n.9067T>C c.7385T>C (p.Met2462Thr) c.7355T>C (p.Met2452Thr) c.7307T>C (p.Met2436Thr) c.7274T>C (p.Met2425Thr) c.7244T>C (p.Met2415Thr) c.7241T>C (p.Met2414Thr) c.7193T>C (p.Met2398Thr) c.7157T>C (p.Met2386Thr) c.7154T>C (p.Met2385Thr) c.7109T>C (p.Met2370Thr) n.7774T>C | |
| X | g.77508355A>T | CA413703358 | ATRX | c.7475T>A (p.Met2492Lys) c.2573T>A (p.Met858Lys) c.7361T>A (p.Met2454Lys) c.*7103T>A (n.*7103T>A) n.5795T>A c.7472T>A (p.Met2491Lys) c.7388T>A (p.Met2463Lys) c.7358T>A (p.Met2453Lys) c.7310T>A (p.Met2437Lys) c.7271T>A (p.Met2424Lys) c.7196T>A (p.Met2399Lys) n.9067T>A c.7385T>A (p.Met2462Lys) c.7355T>A (p.Met2452Lys) c.7307T>A (p.Met2436Lys) c.7274T>A (p.Met2425Lys) c.7244T>A (p.Met2415Lys) c.7241T>A (p.Met2414Lys) c.7193T>A (p.Met2398Lys) c.7157T>A (p.Met2386Lys) c.7154T>A (p.Met2385Lys) c.7109T>A (p.Met2370Lys) n.7774T>A | |
| X | g.77508356T>A | CA413703359 | ATRX | c.7474A>T (p.Met2492Leu) c.2572A>T (p.Met858Leu) c.7360A>T (p.Met2454Leu) c.*7102A>T (n.*7102A>T) n.5794A>T c.7471A>T (p.Met2491Leu) c.7387A>T (p.Met2463Leu) c.7357A>T (p.Met2453Leu) c.7309A>T (p.Met2437Leu) c.7270A>T (p.Met2424Leu) c.7195A>T (p.Met2399Leu) n.9066A>T c.7384A>T (p.Met2462Leu) c.7354A>T (p.Met2452Leu) c.7306A>T (p.Met2436Leu) c.7273A>T (p.Met2425Leu) c.7243A>T (p.Met2415Leu) c.7240A>T (p.Met2414Leu) c.7192A>T (p.Met2398Leu) c.7156A>T (p.Met2386Leu) c.7153A>T (p.Met2385Leu) c.7108A>T (p.Met2370Leu) n.7773A>T | |
| X | g.77508356T>C | CA10457372 | ATRX | c.7474A>G (p.Met2492Val) c.2572A>G (p.Met858Val) c.7360A>G (p.Met2454Val) c.*7102A>G (n.*7102A>G) n.5794A>G c.7471A>G (p.Met2491Val) c.7387A>G (p.Met2463Val) c.7357A>G (p.Met2453Val) c.7309A>G (p.Met2437Val) c.7270A>G (p.Met2424Val) c.7195A>G (p.Met2399Val) n.9066A>G c.7384A>G (p.Met2462Val) c.7354A>G (p.Met2452Val) c.7306A>G (p.Met2436Val) c.7273A>G (p.Met2425Val) c.7243A>G (p.Met2415Val) c.7240A>G (p.Met2414Val) c.7192A>G (p.Met2398Val) c.7156A>G (p.Met2386Val) c.7153A>G (p.Met2385Val) c.7108A>G (p.Met2370Val) n.7773A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.77508356T>G | CA413703361 | ATRX | c.7474A>C (p.Met2492Leu) c.2572A>C (p.Met858Leu) c.7360A>C (p.Met2454Leu) c.*7102A>C (n.*7102A>C) n.5794A>C c.7471A>C (p.Met2491Leu) c.7387A>C (p.Met2463Leu) c.7357A>C (p.Met2453Leu) c.7309A>C (p.Met2437Leu) c.7270A>C (p.Met2424Leu) c.7195A>C (p.Met2399Leu) n.9066A>C c.7384A>C (p.Met2462Leu) c.7354A>C (p.Met2452Leu) c.7306A>C (p.Met2436Leu) c.7273A>C (p.Met2425Leu) c.7243A>C (p.Met2415Leu) c.7240A>C (p.Met2414Leu) c.7192A>C (p.Met2398Leu) c.7156A>C (p.Met2386Leu) c.7153A>C (p.Met2385Leu) c.7108A>C (p.Met2370Leu) n.7773A>C | |
| X | g.77508356T= | CA2438929015 | ATRX | c.7474A= (p.Met2492=) c.2572A= (p.Met858=) c.7360A= (p.Met2454=) c.*7102A= (n.*7102A=) n.5794A= c.7471A= (p.Met2491=) c.7387A= (p.Met2463=) c.7357A= (p.Met2453=) c.7309A= (p.Met2437=) c.7270A= (p.Met2424=) c.7195A= (p.Met2399=) n.9066A= c.7384A= (p.Met2462=) c.7354A= (p.Met2452=) c.7306A= (p.Met2436=) c.7273A= (p.Met2425=) c.7243A= (p.Met2415=) c.7240A= (p.Met2414=) c.7192A= (p.Met2398=) c.7156A= (p.Met2386=) c.7153A= (p.Met2385=) c.7108A= (p.Met2370=) n.7773A= | |
| X | g.77508357T>A | CA517373949 | ATRX | c.7473A>T (p.Ser2491=) c.2571A>T (p.Ser857=) c.7359A>T (p.Ser2453=) c.*7101A>T (n.*7101A>T) n.5793A>T c.7470A>T (p.Ser2490=) c.7386A>T (p.Ser2462=) c.7356A>T (p.Ser2452=) c.7308A>T (p.Ser2436=) c.7269A>T (p.Ser2423=) c.7194A>T (p.Ser2398=) n.9065A>T c.7383A>T (p.Ser2461=) c.7353A>T (p.Ser2451=) c.7305A>T (p.Ser2435=) c.7272A>T (p.Ser2424=) c.7242A>T (p.Ser2414=) c.7239A>T (p.Ser2413=) c.7191A>T (p.Ser2397=) c.7155A>T (p.Ser2385=) c.7152A>T (p.Ser2384=) c.7107A>T (p.Ser2369=) n.7772A>T | |
| X | g.77508357T>C | CA517373951 | ATRX | c.7473A>G (p.Ser2491=) c.2571A>G (p.Ser857=) c.7359A>G (p.Ser2453=) c.*7101A>G (n.*7101A>G) n.5793A>G c.7470A>G (p.Ser2490=) c.7386A>G (p.Ser2462=) c.7356A>G (p.Ser2452=) c.7308A>G (p.Ser2436=) c.7269A>G (p.Ser2423=) c.7194A>G (p.Ser2398=) n.9065A>G c.7383A>G (p.Ser2461=) c.7353A>G (p.Ser2451=) c.7305A>G (p.Ser2435=) c.7272A>G (p.Ser2424=) c.7242A>G (p.Ser2414=) c.7239A>G (p.Ser2413=) c.7191A>G (p.Ser2397=) c.7155A>G (p.Ser2385=) c.7152A>G (p.Ser2384=) c.7107A>G (p.Ser2369=) n.7772A>G | |
| X | g.77508357T>G | CA517373950 | ATRX | c.7473A>C (p.Ser2491=) c.2571A>C (p.Ser857=) c.7359A>C (p.Ser2453=) c.*7101A>C (n.*7101A>C) n.5793A>C c.7470A>C (p.Ser2490=) c.7386A>C (p.Ser2462=) c.7356A>C (p.Ser2452=) c.7308A>C (p.Ser2436=) c.7269A>C (p.Ser2423=) c.7194A>C (p.Ser2398=) n.9065A>C c.7383A>C (p.Ser2461=) c.7353A>C (p.Ser2451=) c.7305A>C (p.Ser2435=) c.7272A>C (p.Ser2424=) c.7242A>C (p.Ser2414=) c.7239A>C (p.Ser2413=) c.7191A>C (p.Ser2397=) c.7155A>C (p.Ser2385=) c.7152A>C (p.Ser2384=) c.7107A>C (p.Ser2369=) n.7772A>C | |
| X | g.77508358del | CA2573159516 | ATRX | c.7472del (p.Ser2491Ter) c.2570del (p.Ser857Ter) c.7358del (p.Ser2453Ter) c.*7100del (n.*7100del) n.5792del c.7469del (p.Ser2490Ter) c.7385del (p.Ser2462Ter) c.7355del (p.Ser2452Ter) c.7307del (p.Ser2436Ter) c.7268del (p.Ser2423Ter) c.7193del (p.Ser2398Ter) n.9064del c.7382del (p.Ser2461Ter) c.7352del (p.Ser2451Ter) c.7304del (p.Ser2435Ter) c.7271del (p.Ser2424Ter) c.7241del (p.Ser2414Ter) c.7238del (p.Ser2413Ter) c.7190del (p.Ser2397Ter) c.7154del (p.Ser2385Ter) c.7151del (p.Ser2384Ter) c.7106del (p.Ser2369Ter) n.7771del | ClinVar dbSNP |
| X | g.77508358G>A | CA413703370 | ATRX | c.7472C>T (p.Ser2491Leu) c.2570C>T (p.Ser857Leu) c.7358C>T (p.Ser2453Leu) c.*7100C>T (n.*7100C>T) n.5792C>T c.7469C>T (p.Ser2490Leu) c.7385C>T (p.Ser2462Leu) c.7355C>T (p.Ser2452Leu) c.7307C>T (p.Ser2436Leu) c.7268C>T (p.Ser2423Leu) c.7193C>T (p.Ser2398Leu) n.9064C>T c.7382C>T (p.Ser2461Leu) c.7352C>T (p.Ser2451Leu) c.7304C>T (p.Ser2435Leu) c.7271C>T (p.Ser2424Leu) c.7241C>T (p.Ser2414Leu) c.7238C>T (p.Ser2413Leu) c.7190C>T (p.Ser2397Leu) c.7154C>T (p.Ser2385Leu) c.7151C>T (p.Ser2384Leu) c.7106C>T (p.Ser2369Leu) n.7771C>T | |
| X | g.77508358G>C | CA413703374 | ATRX | c.7472C>G (p.Ser2491Ter) c.2570C>G (p.Ser857Ter) c.7358C>G (p.Ser2453Ter) c.*7100C>G (n.*7100C>G) n.5792C>G c.7469C>G (p.Ser2490Ter) c.7385C>G (p.Ser2462Ter) c.7355C>G (p.Ser2452Ter) c.7307C>G (p.Ser2436Ter) c.7268C>G (p.Ser2423Ter) c.7193C>G (p.Ser2398Ter) n.9064C>G c.7382C>G (p.Ser2461Ter) c.7352C>G (p.Ser2451Ter) c.7304C>G (p.Ser2435Ter) c.7271C>G (p.Ser2424Ter) c.7241C>G (p.Ser2414Ter) c.7238C>G (p.Ser2413Ter) c.7190C>G (p.Ser2397Ter) c.7154C>G (p.Ser2385Ter) c.7151C>G (p.Ser2384Ter) c.7106C>G (p.Ser2369Ter) n.7771C>G | dbSNP |
| X | g.77508358G= | CA2438929016 | ATRX | c.7472C= (p.Ser2491=) c.2570C= (p.Ser857=) c.7358C= (p.Ser2453=) c.*7100C= (n.*7100C=) n.5792C= c.7469C= (p.Ser2490=) c.7385C= (p.Ser2462=) c.7355C= (p.Ser2452=) c.7307C= (p.Ser2436=) c.7268C= (p.Ser2423=) c.7193C= (p.Ser2398=) n.9064C= c.7382C= (p.Ser2461=) c.7352C= (p.Ser2451=) c.7304C= (p.Ser2435=) c.7271C= (p.Ser2424=) c.7241C= (p.Ser2414=) c.7238C= (p.Ser2413=) c.7190C= (p.Ser2397=) c.7154C= (p.Ser2385=) c.7151C= (p.Ser2384=) c.7106C= (p.Ser2369=) n.7771C= | |
| X | g.77508358G>T | CA413703366 | ATRX | c.7472C>A (p.Ser2491Ter) c.2570C>A (p.Ser857Ter) c.7358C>A (p.Ser2453Ter) c.*7100C>A (n.*7100C>A) n.5792C>A c.7469C>A (p.Ser2490Ter) c.7385C>A (p.Ser2462Ter) c.7355C>A (p.Ser2452Ter) c.7307C>A (p.Ser2436Ter) c.7268C>A (p.Ser2423Ter) c.7193C>A (p.Ser2398Ter) n.9064C>A c.7382C>A (p.Ser2461Ter) c.7352C>A (p.Ser2451Ter) c.7304C>A (p.Ser2435Ter) c.7271C>A (p.Ser2424Ter) c.7241C>A (p.Ser2414Ter) c.7238C>A (p.Ser2413Ter) c.7190C>A (p.Ser2397Ter) c.7154C>A (p.Ser2385Ter) c.7151C>A (p.Ser2384Ter) c.7106C>A (p.Ser2369Ter) n.7771C>A | |
| X | g.77508359A>C | CA413703376 | ATRX | c.7471T>G (p.Ser2491Ala) c.2569T>G (p.Ser857Ala) c.7357T>G (p.Ser2453Ala) c.*7099T>G (n.*7099T>G) n.5791T>G c.7468T>G (p.Ser2490Ala) c.7384T>G (p.Ser2462Ala) c.7354T>G (p.Ser2452Ala) c.7306T>G (p.Ser2436Ala) c.7267T>G (p.Ser2423Ala) c.7192T>G (p.Ser2398Ala) n.9063T>G c.7381T>G (p.Ser2461Ala) c.7351T>G (p.Ser2451Ala) c.7303T>G (p.Ser2435Ala) c.7270T>G (p.Ser2424Ala) c.7240T>G (p.Ser2414Ala) c.7237T>G (p.Ser2413Ala) c.7189T>G (p.Ser2397Ala) c.7153T>G (p.Ser2385Ala) c.7150T>G (p.Ser2384Ala) c.7105T>G (p.Ser2369Ala) n.7770T>G | |
| X | g.77508359A>G | CA413703377 | ATRX | c.7471T>C (p.Ser2491Pro) c.2569T>C (p.Ser857Pro) c.7357T>C (p.Ser2453Pro) c.*7099T>C (n.*7099T>C) n.5791T>C c.7468T>C (p.Ser2490Pro) c.7384T>C (p.Ser2462Pro) c.7354T>C (p.Ser2452Pro) c.7306T>C (p.Ser2436Pro) c.7267T>C (p.Ser2423Pro) c.7192T>C (p.Ser2398Pro) n.9063T>C c.7381T>C (p.Ser2461Pro) c.7351T>C (p.Ser2451Pro) c.7303T>C (p.Ser2435Pro) c.7270T>C (p.Ser2424Pro) c.7240T>C (p.Ser2414Pro) c.7237T>C (p.Ser2413Pro) c.7189T>C (p.Ser2397Pro) c.7153T>C (p.Ser2385Pro) c.7150T>C (p.Ser2384Pro) c.7105T>C (p.Ser2369Pro) n.7770T>C | |
| X | g.77508359A>T | CA413703378 | ATRX | c.7471T>A (p.Ser2491Thr) c.2569T>A (p.Ser857Thr) c.7357T>A (p.Ser2453Thr) c.*7099T>A (n.*7099T>A) n.5791T>A c.7468T>A (p.Ser2490Thr) c.7384T>A (p.Ser2462Thr) c.7354T>A (p.Ser2452Thr) c.7306T>A (p.Ser2436Thr) c.7267T>A (p.Ser2423Thr) c.7192T>A (p.Ser2398Thr) n.9063T>A c.7381T>A (p.Ser2461Thr) c.7351T>A (p.Ser2451Thr) c.7303T>A (p.Ser2435Thr) c.7270T>A (p.Ser2424Thr) c.7240T>A (p.Ser2414Thr) c.7237T>A (p.Ser2413Thr) c.7189T>A (p.Ser2397Thr) c.7153T>A (p.Ser2385Thr) c.7150T>A (p.Ser2384Thr) c.7105T>A (p.Ser2369Thr) n.7770T>A | |
| X | g.77508360T>A | CA413703381 | ATRX | c.7470A>T (p.Lys2490Asn) c.2568A>T (p.Lys856Asn) c.7356A>T (p.Lys2452Asn) c.*7098A>T (n.*7098A>T) n.5790A>T c.7467A>T (p.Lys2489Asn) c.7383A>T (p.Lys2461Asn) c.7353A>T (p.Lys2451Asn) c.7305A>T (p.Lys2435Asn) c.7266A>T (p.Lys2422Asn) c.7191A>T (p.Lys2397Asn) n.9062A>T c.7380A>T (p.Lys2460Asn) c.7350A>T (p.Lys2450Asn) c.7302A>T (p.Lys2434Asn) c.7269A>T (p.Lys2423Asn) c.7239A>T (p.Lys2413Asn) c.7236A>T (p.Lys2412Asn) c.7188A>T (p.Lys2396Asn) c.7152A>T (p.Lys2384Asn) c.7149A>T (p.Lys2383Asn) c.7104A>T (p.Lys2368Asn) n.7769A>T | |
| X | g.77508360T>C | CA517373954 | ATRX | c.7470A>G (p.Lys2490=) c.2568A>G (p.Lys856=) c.7356A>G (p.Lys2452=) c.*7098A>G (n.*7098A>G) n.5790A>G c.7467A>G (p.Lys2489=) c.7383A>G (p.Lys2461=) c.7353A>G (p.Lys2451=) c.7305A>G (p.Lys2435=) c.7266A>G (p.Lys2422=) c.7191A>G (p.Lys2397=) n.9062A>G c.7380A>G (p.Lys2460=) c.7350A>G (p.Lys2450=) c.7302A>G (p.Lys2434=) c.7269A>G (p.Lys2423=) c.7239A>G (p.Lys2413=) c.7236A>G (p.Lys2412=) c.7188A>G (p.Lys2396=) c.7152A>G (p.Lys2384=) c.7149A>G (p.Lys2383=) c.7104A>G (p.Lys2368=) n.7769A>G | |
| X | g.77508360T>G | CA413703385 | ATRX | c.7470A>C (p.Lys2490Asn) c.2568A>C (p.Lys856Asn) c.7356A>C (p.Lys2452Asn) c.*7098A>C (n.*7098A>C) n.5790A>C c.7467A>C (p.Lys2489Asn) c.7383A>C (p.Lys2461Asn) c.7353A>C (p.Lys2451Asn) c.7305A>C (p.Lys2435Asn) c.7266A>C (p.Lys2422Asn) c.7191A>C (p.Lys2397Asn) n.9062A>C c.7380A>C (p.Lys2460Asn) c.7350A>C (p.Lys2450Asn) c.7302A>C (p.Lys2434Asn) c.7269A>C (p.Lys2423Asn) c.7239A>C (p.Lys2413Asn) c.7236A>C (p.Lys2412Asn) c.7188A>C (p.Lys2396Asn) c.7152A>C (p.Lys2384Asn) c.7149A>C (p.Lys2383Asn) c.7104A>C (p.Lys2368Asn) n.7769A>C | |
| X | g.77508361T>A | CA413703388 | ATRX | c.7469A>T (p.Lys2490Ile) c.2567A>T (p.Lys856Ile) c.7355A>T (p.Lys2452Ile) c.*7097A>T (n.*7097A>T) n.5789A>T c.7466A>T (p.Lys2489Ile) c.7382A>T (p.Lys2461Ile) c.7352A>T (p.Lys2451Ile) c.7304A>T (p.Lys2435Ile) c.7265A>T (p.Lys2422Ile) c.7190A>T (p.Lys2397Ile) n.9061A>T c.7379A>T (p.Lys2460Ile) c.7349A>T (p.Lys2450Ile) c.7301A>T (p.Lys2434Ile) c.7268A>T (p.Lys2423Ile) c.7238A>T (p.Lys2413Ile) c.7235A>T (p.Lys2412Ile) c.7187A>T (p.Lys2396Ile) c.7151A>T (p.Lys2384Ile) c.7148A>T (p.Lys2383Ile) c.7103A>T (p.Lys2368Ile) n.7768A>T | |
| X | g.77508361T>C | CA413703391 | ATRX | c.7469A>G (p.Lys2490Arg) c.2567A>G (p.Lys856Arg) c.7355A>G (p.Lys2452Arg) c.*7097A>G (n.*7097A>G) n.5789A>G c.7466A>G (p.Lys2489Arg) c.7382A>G (p.Lys2461Arg) c.7352A>G (p.Lys2451Arg) c.7304A>G (p.Lys2435Arg) c.7265A>G (p.Lys2422Arg) c.7190A>G (p.Lys2397Arg) n.9061A>G c.7379A>G (p.Lys2460Arg) c.7349A>G (p.Lys2450Arg) c.7301A>G (p.Lys2434Arg) c.7268A>G (p.Lys2423Arg) c.7238A>G (p.Lys2413Arg) c.7235A>G (p.Lys2412Arg) c.7187A>G (p.Lys2396Arg) c.7151A>G (p.Lys2384Arg) c.7148A>G (p.Lys2383Arg) c.7103A>G (p.Lys2368Arg) n.7768A>G | |
| X | g.77508361T>G | CA413703393 | ATRX | c.7469A>C (p.Lys2490Thr) c.2567A>C (p.Lys856Thr) c.7355A>C (p.Lys2452Thr) c.*7097A>C (n.*7097A>C) n.5789A>C c.7466A>C (p.Lys2489Thr) c.7382A>C (p.Lys2461Thr) c.7352A>C (p.Lys2451Thr) c.7304A>C (p.Lys2435Thr) c.7265A>C (p.Lys2422Thr) c.7190A>C (p.Lys2397Thr) n.9061A>C c.7379A>C (p.Lys2460Thr) c.7349A>C (p.Lys2450Thr) c.7301A>C (p.Lys2434Thr) c.7268A>C (p.Lys2423Thr) c.7238A>C (p.Lys2413Thr) c.7235A>C (p.Lys2412Thr) c.7187A>C (p.Lys2396Thr) c.7151A>C (p.Lys2384Thr) c.7148A>C (p.Lys2383Thr) c.7103A>C (p.Lys2368Thr) n.7768A>C | |
| X | g.77508362T>A | CA413703397 | ATRX | c.7468A>T (p.Lys2490Ter) c.2566A>T (p.Lys856Ter) c.7354A>T (p.Lys2452Ter) c.*7096A>T (n.*7096A>T) n.5788A>T c.7465A>T (p.Lys2489Ter) c.7381A>T (p.Lys2461Ter) c.7351A>T (p.Lys2451Ter) c.7303A>T (p.Lys2435Ter) c.7264A>T (p.Lys2422Ter) c.7189A>T (p.Lys2397Ter) n.9060A>T c.7378A>T (p.Lys2460Ter) c.7348A>T (p.Lys2450Ter) c.7300A>T (p.Lys2434Ter) c.7267A>T (p.Lys2423Ter) c.7237A>T (p.Lys2413Ter) c.7234A>T (p.Lys2412Ter) c.7186A>T (p.Lys2396Ter) c.7150A>T (p.Lys2384Ter) c.7147A>T (p.Lys2383Ter) c.7102A>T (p.Lys2368Ter) n.7767A>T | ClinVar |
| X | g.77508362T>C | CA413703399 | ATRX | c.7468A>G (p.Lys2490Glu) c.2566A>G (p.Lys856Glu) c.7354A>G (p.Lys2452Glu) c.*7096A>G (n.*7096A>G) n.5788A>G c.7465A>G (p.Lys2489Glu) c.7381A>G (p.Lys2461Glu) c.7351A>G (p.Lys2451Glu) c.7303A>G (p.Lys2435Glu) c.7264A>G (p.Lys2422Glu) c.7189A>G (p.Lys2397Glu) n.9060A>G c.7378A>G (p.Lys2460Glu) c.7348A>G (p.Lys2450Glu) c.7300A>G (p.Lys2434Glu) c.7267A>G (p.Lys2423Glu) c.7237A>G (p.Lys2413Glu) c.7234A>G (p.Lys2412Glu) c.7186A>G (p.Lys2396Glu) c.7150A>G (p.Lys2384Glu) c.7147A>G (p.Lys2383Glu) c.7102A>G (p.Lys2368Glu) n.7767A>G | |
| X | g.77508362T>G | CA413703403 | ATRX | c.7468A>C (p.Lys2490Gln) c.2566A>C (p.Lys856Gln) c.7354A>C (p.Lys2452Gln) c.*7096A>C (n.*7096A>C) n.5788A>C c.7465A>C (p.Lys2489Gln) c.7381A>C (p.Lys2461Gln) c.7351A>C (p.Lys2451Gln) c.7303A>C (p.Lys2435Gln) c.7264A>C (p.Lys2422Gln) c.7189A>C (p.Lys2397Gln) n.9060A>C c.7378A>C (p.Lys2460Gln) c.7348A>C (p.Lys2450Gln) c.7300A>C (p.Lys2434Gln) c.7267A>C (p.Lys2423Gln) c.7237A>C (p.Lys2413Gln) c.7234A>C (p.Lys2412Gln) c.7186A>C (p.Lys2396Gln) c.7150A>C (p.Lys2384Gln) c.7147A>C (p.Lys2383Gln) c.7102A>C (p.Lys2368Gln) n.7767A>C | |
| X | g.77508363C>A | CA517373956 | ATRX | c.7467G>T (p.Gly2489=) c.2565G>T (p.Gly855=) c.7353G>T (p.Gly2451=) c.*7095G>T (n.*7095G>T) n.5787G>T c.7464G>T (p.Gly2488=) c.7380G>T (p.Gly2460=) c.7350G>T (p.Gly2450=) c.7302G>T (p.Gly2434=) c.7263G>T (p.Gly2421=) c.7188G>T (p.Gly2396=) n.9059G>T c.7377G>T (p.Gly2459=) c.7347G>T (p.Gly2449=) c.7299G>T (p.Gly2433=) c.7266G>T (p.Gly2422=) c.7236G>T (p.Gly2412=) c.7233G>T (p.Gly2411=) c.7185G>T (p.Gly2395=) c.7149G>T (p.Gly2383=) c.7146G>T (p.Gly2382=) c.7101G>T (p.Gly2367=) n.7766G>T | |
| X | g.77508363C= | CA2438929017 | ATRX | c.7467G= (p.Gly2489=) c.2565G= (p.Gly855=) c.7353G= (p.Gly2451=) c.*7095G= (n.*7095G=) n.5787G= c.7464G= (p.Gly2488=) c.7380G= (p.Gly2460=) c.7350G= (p.Gly2450=) c.7302G= (p.Gly2434=) c.7263G= (p.Gly2421=) c.7188G= (p.Gly2396=) n.9059G= c.7377G= (p.Gly2459=) c.7347G= (p.Gly2449=) c.7299G= (p.Gly2433=) c.7266G= (p.Gly2422=) c.7236G= (p.Gly2412=) c.7233G= (p.Gly2411=) c.7185G= (p.Gly2395=) c.7149G= (p.Gly2383=) c.7146G= (p.Gly2382=) c.7101G= (p.Gly2367=) n.7766G= | |
| X | g.77508363C>G | CA517373960 | ATRX | c.7467G>C (p.Gly2489=) c.2565G>C (p.Gly855=) c.7353G>C (p.Gly2451=) c.*7095G>C (n.*7095G>C) n.5787G>C c.7464G>C (p.Gly2488=) c.7380G>C (p.Gly2460=) c.7350G>C (p.Gly2450=) c.7302G>C (p.Gly2434=) c.7263G>C (p.Gly2421=) c.7188G>C (p.Gly2396=) n.9059G>C c.7377G>C (p.Gly2459=) c.7347G>C (p.Gly2449=) c.7299G>C (p.Gly2433=) c.7266G>C (p.Gly2422=) c.7236G>C (p.Gly2412=) c.7233G>C (p.Gly2411=) c.7185G>C (p.Gly2395=) c.7149G>C (p.Gly2383=) c.7146G>C (p.Gly2382=) c.7101G>C (p.Gly2367=) n.7766G>C | |
| X | g.77508363C>T | CA517373958 | ATRX | c.7467G>A (p.Gly2489=) c.2565G>A (p.Gly855=) c.7353G>A (p.Gly2451=) c.*7095G>A (n.*7095G>A) n.5787G>A c.7464G>A (p.Gly2488=) c.7380G>A (p.Gly2460=) c.7350G>A (p.Gly2450=) c.7302G>A (p.Gly2434=) c.7263G>A (p.Gly2421=) c.7188G>A (p.Gly2396=) n.9059G>A c.7377G>A (p.Gly2459=) c.7347G>A (p.Gly2449=) c.7299G>A (p.Gly2433=) c.7266G>A (p.Gly2422=) c.7236G>A (p.Gly2412=) c.7233G>A (p.Gly2411=) c.7185G>A (p.Gly2395=) c.7149G>A (p.Gly2383=) c.7146G>A (p.Gly2382=) c.7101G>A (p.Gly2367=) n.7766G>A | dbSNP |
| X | g.77508364C>A | CA413703409 | ATRX | c.7466G>T (p.Gly2489Val) c.2564G>T (p.Gly855Val) c.7352G>T (p.Gly2451Val) c.*7094G>T (n.*7094G>T) n.5786G>T c.7463G>T (p.Gly2488Val) c.7379G>T (p.Gly2460Val) c.7349G>T (p.Gly2450Val) c.7301G>T (p.Gly2434Val) c.7262G>T (p.Gly2421Val) c.7187G>T (p.Gly2396Val) n.9058G>T c.7376G>T (p.Gly2459Val) c.7346G>T (p.Gly2449Val) c.7298G>T (p.Gly2433Val) c.7265G>T (p.Gly2422Val) c.7235G>T (p.Gly2412Val) c.7232G>T (p.Gly2411Val) c.7184G>T (p.Gly2395Val) c.7148G>T (p.Gly2383Val) c.7145G>T (p.Gly2382Val) c.7100G>T (p.Gly2367Val) n.7765G>T | |
| X | g.77508364C= | CA2438929018 | ATRX | c.7466G= (p.Gly2489=) c.2564G= (p.Gly855=) c.7352G= (p.Gly2451=) c.*7094G= (n.*7094G=) n.5786G= c.7463G= (p.Gly2488=) c.7379G= (p.Gly2460=) c.7349G= (p.Gly2450=) c.7301G= (p.Gly2434=) c.7262G= (p.Gly2421=) c.7187G= (p.Gly2396=) n.9058G= c.7376G= (p.Gly2459=) c.7346G= (p.Gly2449=) c.7298G= (p.Gly2433=) c.7265G= (p.Gly2422=) c.7235G= (p.Gly2412=) c.7232G= (p.Gly2411=) c.7184G= (p.Gly2395=) c.7148G= (p.Gly2383=) c.7145G= (p.Gly2382=) c.7100G= (p.Gly2367=) n.7765G= | |
| X | g.77508364C>G | CA413703412 | ATRX | c.7466G>C (p.Gly2489Ala) c.2564G>C (p.Gly855Ala) c.7352G>C (p.Gly2451Ala) c.*7094G>C (n.*7094G>C) n.5786G>C c.7463G>C (p.Gly2488Ala) c.7379G>C (p.Gly2460Ala) c.7349G>C (p.Gly2450Ala) c.7301G>C (p.Gly2434Ala) c.7262G>C (p.Gly2421Ala) c.7187G>C (p.Gly2396Ala) n.9058G>C c.7376G>C (p.Gly2459Ala) c.7346G>C (p.Gly2449Ala) c.7298G>C (p.Gly2433Ala) c.7265G>C (p.Gly2422Ala) c.7235G>C (p.Gly2412Ala) c.7232G>C (p.Gly2411Ala) c.7184G>C (p.Gly2395Ala) c.7148G>C (p.Gly2383Ala) c.7145G>C (p.Gly2382Ala) c.7100G>C (p.Gly2367Ala) n.7765G>C | |
| X | g.77508364C>T | CA10457373 | ATRX | c.7466G>A (p.Gly2489Glu) c.2564G>A (p.Gly855Glu) c.7352G>A (p.Gly2451Glu) c.*7094G>A (n.*7094G>A) n.5786G>A c.7463G>A (p.Gly2488Glu) c.7379G>A (p.Gly2460Glu) c.7349G>A (p.Gly2450Glu) c.7301G>A (p.Gly2434Glu) c.7262G>A (p.Gly2421Glu) c.7187G>A (p.Gly2396Glu) n.9058G>A c.7376G>A (p.Gly2459Glu) c.7346G>A (p.Gly2449Glu) c.7298G>A (p.Gly2433Glu) c.7265G>A (p.Gly2422Glu) c.7235G>A (p.Gly2412Glu) c.7232G>A (p.Gly2411Glu) c.7184G>A (p.Gly2395Glu) c.7148G>A (p.Gly2383Glu) c.7145G>A (p.Gly2382Glu) c.7100G>A (p.Gly2367Glu) n.7765G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.77508364_77508365insTCT | CA2522507208 | ATRX | c.7465_7466insAGA (p.Gly2489delinsGluArg) c.2563_2564insAGA (p.Gly855delinsGluArg) c.7351_7352insAGA (p.Gly2451delinsGluArg) c.*7093_*7094insAGA (n.*7093_*7094insAGA) n.5785_5786insAGA c.7462_7463insAGA (p.Gly2488delinsGluArg) c.7378_7379insAGA (p.Gly2460delinsGluArg) c.7348_7349insAGA (p.Gly2450delinsGluArg) c.7300_7301insAGA (p.Gly2434delinsGluArg) c.7261_7262insAGA (p.Gly2421delinsGluArg) c.7186_7187insAGA (p.Gly2396delinsGluArg) n.9057_9058insAGA c.7375_7376insAGA (p.Gly2459delinsGluArg) c.7345_7346insAGA (p.Gly2449delinsGluArg) c.7297_7298insAGA (p.Gly2433delinsGluArg) c.7264_7265insAGA (p.Gly2422delinsGluArg) c.7234_7235insAGA (p.Gly2412delinsGluArg) c.7231_7232insAGA (p.Gly2411delinsGluArg) c.7183_7184insAGA (p.Gly2395delinsGluArg) c.7147_7148insAGA (p.Gly2383delinsGluArg) c.7144_7145insAGA (p.Gly2382delinsGluArg) c.7099_7100insAGA (p.Gly2367delinsGluArg) n.7764_7765insAGA | |
| X | g.77508365C>A | CA413703416 | ATRX | c.7465G>T (p.Gly2489Trp) c.2563G>T (p.Gly855Trp) c.7351G>T (p.Gly2451Trp) c.*7093G>T (n.*7093G>T) n.5785G>T c.7462G>T (p.Gly2488Trp) c.7378G>T (p.Gly2460Trp) c.7348G>T (p.Gly2450Trp) c.7300G>T (p.Gly2434Trp) c.7261G>T (p.Gly2421Trp) c.7186G>T (p.Gly2396Trp) n.9057G>T c.7375G>T (p.Gly2459Trp) c.7345G>T (p.Gly2449Trp) c.7297G>T (p.Gly2433Trp) c.7264G>T (p.Gly2422Trp) c.7234G>T (p.Gly2412Trp) c.7231G>T (p.Gly2411Trp) c.7183G>T (p.Gly2395Trp) c.7147G>T (p.Gly2383Trp) c.7144G>T (p.Gly2382Trp) c.7099G>T (p.Gly2367Trp) n.7764G>T | |
| X | g.77508365C>G | CA413703426 | ATRX | c.7465G>C (p.Gly2489Arg) c.2563G>C (p.Gly855Arg) c.7351G>C (p.Gly2451Arg) c.*7093G>C (n.*7093G>C) n.5785G>C c.7462G>C (p.Gly2488Arg) c.7378G>C (p.Gly2460Arg) c.7348G>C (p.Gly2450Arg) c.7300G>C (p.Gly2434Arg) c.7261G>C (p.Gly2421Arg) c.7186G>C (p.Gly2396Arg) n.9057G>C c.7375G>C (p.Gly2459Arg) c.7345G>C (p.Gly2449Arg) c.7297G>C (p.Gly2433Arg) c.7264G>C (p.Gly2422Arg) c.7234G>C (p.Gly2412Arg) c.7231G>C (p.Gly2411Arg) c.7183G>C (p.Gly2395Arg) c.7147G>C (p.Gly2383Arg) c.7144G>C (p.Gly2382Arg) c.7099G>C (p.Gly2367Arg) n.7764G>C | |
| X | g.77508365C>T | CA413703428 | ATRX | c.7465G>A (p.Gly2489Arg) c.2563G>A (p.Gly855Arg) c.7351G>A (p.Gly2451Arg) c.*7093G>A (n.*7093G>A) n.5785G>A c.7462G>A (p.Gly2488Arg) c.7378G>A (p.Gly2460Arg) c.7348G>A (p.Gly2450Arg) c.7300G>A (p.Gly2434Arg) c.7261G>A (p.Gly2421Arg) c.7186G>A (p.Gly2396Arg) n.9057G>A c.7375G>A (p.Gly2459Arg) c.7345G>A (p.Gly2449Arg) c.7297G>A (p.Gly2433Arg) c.7264G>A (p.Gly2422Arg) c.7234G>A (p.Gly2412Arg) c.7231G>A (p.Gly2411Arg) c.7183G>A (p.Gly2395Arg) c.7147G>A (p.Gly2383Arg) c.7144G>A (p.Gly2382Arg) c.7099G>A (p.Gly2367Arg) n.7764G>A | |
| X | g.77508366T>A | CA413703431 | ATRX | c.7464A>T (p.Gln2488His) c.2562A>T (p.Gln854His) c.7350A>T (p.Gln2450His) c.*7092A>T (n.*7092A>T) n.5784A>T c.7461A>T (p.Gln2487His) c.7377A>T (p.Gln2459His) c.7347A>T (p.Gln2449His) c.7299A>T (p.Gln2433His) c.7260A>T (p.Gln2420His) c.7185A>T (p.Gln2395His) n.9056A>T c.7374A>T (p.Gln2458His) c.7344A>T (p.Gln2448His) c.7296A>T (p.Gln2432His) c.7263A>T (p.Gln2421His) c.7233A>T (p.Gln2411His) c.7230A>T (p.Gln2410His) c.7182A>T (p.Gln2394His) c.7146A>T (p.Gln2382His) c.7143A>T (p.Gln2381His) c.7098A>T (p.Gln2366His) n.7763A>T | COSMIC COSMIC |
| X | g.77508366T>C | CA517373962 | ATRX | c.7464A>G (p.Gln2488=) c.2562A>G (p.Gln854=) c.7350A>G (p.Gln2450=) c.*7092A>G (n.*7092A>G) n.5784A>G c.7461A>G (p.Gln2487=) c.7377A>G (p.Gln2459=) c.7347A>G (p.Gln2449=) c.7299A>G (p.Gln2433=) c.7260A>G (p.Gln2420=) c.7185A>G (p.Gln2395=) n.9056A>G c.7374A>G (p.Gln2458=) c.7344A>G (p.Gln2448=) c.7296A>G (p.Gln2432=) c.7263A>G (p.Gln2421=) c.7233A>G (p.Gln2411=) c.7230A>G (p.Gln2410=) c.7182A>G (p.Gln2394=) c.7146A>G (p.Gln2382=) c.7143A>G (p.Gln2381=) c.7098A>G (p.Gln2366=) n.7763A>G | |
| X | g.77508366T>G | CA413703434 | ATRX | c.7464A>C (p.Gln2488His) c.2562A>C (p.Gln854His) c.7350A>C (p.Gln2450His) c.*7092A>C (n.*7092A>C) n.5784A>C c.7461A>C (p.Gln2487His) c.7377A>C (p.Gln2459His) c.7347A>C (p.Gln2449His) c.7299A>C (p.Gln2433His) c.7260A>C (p.Gln2420His) c.7185A>C (p.Gln2395His) n.9056A>C c.7374A>C (p.Gln2458His) c.7344A>C (p.Gln2448His) c.7296A>C (p.Gln2432His) c.7263A>C (p.Gln2421His) c.7233A>C (p.Gln2411His) c.7230A>C (p.Gln2410His) c.7182A>C (p.Gln2394His) c.7146A>C (p.Gln2382His) c.7143A>C (p.Gln2381His) c.7098A>C (p.Gln2366His) n.7763A>C | |
| X | g.77508367T>A | CA413703444 | ATRX | c.7463A>T (p.Gln2488Leu) c.2561A>T (p.Gln854Leu) c.7349A>T (p.Gln2450Leu) c.*7091A>T (n.*7091A>T) n.5783A>T c.7460A>T (p.Gln2487Leu) c.7376A>T (p.Gln2459Leu) c.7346A>T (p.Gln2449Leu) c.7298A>T (p.Gln2433Leu) c.7259A>T (p.Gln2420Leu) c.7184A>T (p.Gln2395Leu) n.9055A>T c.7373A>T (p.Gln2458Leu) c.7343A>T (p.Gln2448Leu) c.7295A>T (p.Gln2432Leu) c.7262A>T (p.Gln2421Leu) c.7232A>T (p.Gln2411Leu) c.7229A>T (p.Gln2410Leu) c.7181A>T (p.Gln2394Leu) c.7145A>T (p.Gln2382Leu) c.7142A>T (p.Gln2381Leu) c.7097A>T (p.Gln2366Leu) n.7762A>T | |
| X | g.77508367T>C | CA413703439 | ATRX | c.7463A>G (p.Gln2488Arg) c.2561A>G (p.Gln854Arg) c.7349A>G (p.Gln2450Arg) c.*7091A>G (n.*7091A>G) n.5783A>G c.7460A>G (p.Gln2487Arg) c.7376A>G (p.Gln2459Arg) c.7346A>G (p.Gln2449Arg) c.7298A>G (p.Gln2433Arg) c.7259A>G (p.Gln2420Arg) c.7184A>G (p.Gln2395Arg) n.9055A>G c.7373A>G (p.Gln2458Arg) c.7343A>G (p.Gln2448Arg) c.7295A>G (p.Gln2432Arg) c.7262A>G (p.Gln2421Arg) c.7232A>G (p.Gln2411Arg) c.7229A>G (p.Gln2410Arg) c.7181A>G (p.Gln2394Arg) c.7145A>G (p.Gln2382Arg) c.7142A>G (p.Gln2381Arg) c.7097A>G (p.Gln2366Arg) n.7762A>G | |
| X | g.77508367T>G | CA413703442 | ATRX | c.7463A>C (p.Gln2488Pro) c.2561A>C (p.Gln854Pro) c.7349A>C (p.Gln2450Pro) c.*7091A>C (n.*7091A>C) n.5783A>C c.7460A>C (p.Gln2487Pro) c.7376A>C (p.Gln2459Pro) c.7346A>C (p.Gln2449Pro) c.7298A>C (p.Gln2433Pro) c.7259A>C (p.Gln2420Pro) c.7184A>C (p.Gln2395Pro) n.9055A>C c.7373A>C (p.Gln2458Pro) c.7343A>C (p.Gln2448Pro) c.7295A>C (p.Gln2432Pro) c.7262A>C (p.Gln2421Pro) c.7232A>C (p.Gln2411Pro) c.7229A>C (p.Gln2410Pro) c.7181A>C (p.Gln2394Pro) c.7145A>C (p.Gln2382Pro) c.7142A>C (p.Gln2381Pro) c.7097A>C (p.Gln2366Pro) n.7762A>C | |
| X | g.77508368G>A | CA413703447 | ATRX | c.7462C>T (p.Gln2488Ter) c.2560C>T (p.Gln854Ter) c.7348C>T (p.Gln2450Ter) c.*7090C>T (n.*7090C>T) n.5782C>T c.7459C>T (p.Gln2487Ter) c.7375C>T (p.Gln2459Ter) c.7345C>T (p.Gln2449Ter) c.7297C>T (p.Gln2433Ter) c.7258C>T (p.Gln2420Ter) c.7183C>T (p.Gln2395Ter) n.9054C>T c.7372C>T (p.Gln2458Ter) c.7342C>T (p.Gln2448Ter) c.7294C>T (p.Gln2432Ter) c.7261C>T (p.Gln2421Ter) c.7231C>T (p.Gln2411Ter) c.7228C>T (p.Gln2410Ter) c.7180C>T (p.Gln2394Ter) c.7144C>T (p.Gln2382Ter) c.7141C>T (p.Gln2381Ter) c.7096C>T (p.Gln2366Ter) n.7761C>T | |
| X | g.77508368G>C | CA413703450 | ATRX | c.7462C>G (p.Gln2488Glu) c.2560C>G (p.Gln854Glu) c.7348C>G (p.Gln2450Glu) c.*7090C>G (n.*7090C>G) n.5782C>G c.7459C>G (p.Gln2487Glu) c.7375C>G (p.Gln2459Glu) c.7345C>G (p.Gln2449Glu) c.7297C>G (p.Gln2433Glu) c.7258C>G (p.Gln2420Glu) c.7183C>G (p.Gln2395Glu) n.9054C>G c.7372C>G (p.Gln2458Glu) c.7342C>G (p.Gln2448Glu) c.7294C>G (p.Gln2432Glu) c.7261C>G (p.Gln2421Glu) c.7231C>G (p.Gln2411Glu) c.7228C>G (p.Gln2410Glu) c.7180C>G (p.Gln2394Glu) c.7144C>G (p.Gln2382Glu) c.7141C>G (p.Gln2381Glu) c.7096C>G (p.Gln2366Glu) n.7761C>G | |
| X | g.77508368G>T | CA413703453 | ATRX | c.7462C>A (p.Gln2488Lys) c.2560C>A (p.Gln854Lys) c.7348C>A (p.Gln2450Lys) c.*7090C>A (n.*7090C>A) n.5782C>A c.7459C>A (p.Gln2487Lys) c.7375C>A (p.Gln2459Lys) c.7345C>A (p.Gln2449Lys) c.7297C>A (p.Gln2433Lys) c.7258C>A (p.Gln2420Lys) c.7183C>A (p.Gln2395Lys) n.9054C>A c.7372C>A (p.Gln2458Lys) c.7342C>A (p.Gln2448Lys) c.7294C>A (p.Gln2432Lys) c.7261C>A (p.Gln2421Lys) c.7231C>A (p.Gln2411Lys) c.7228C>A (p.Gln2410Lys) c.7180C>A (p.Gln2394Lys) c.7144C>A (p.Gln2382Lys) c.7141C>A (p.Gln2381Lys) c.7096C>A (p.Gln2366Lys) n.7761C>A | |
| X | g.77508369G>A | CA517373964 | ATRX | c.7461C>T (p.Ser2487=) c.2559C>T (p.Ser853=) c.7347C>T (p.Ser2449=) c.*7089C>T (n.*7089C>T) n.5781C>T c.7458C>T (p.Ser2486=) c.7374C>T (p.Ser2458=) c.7344C>T (p.Ser2448=) c.7296C>T (p.Ser2432=) c.7257C>T (p.Ser2419=) c.7182C>T (p.Ser2394=) n.9053C>T c.7371C>T (p.Ser2457=) c.7341C>T (p.Ser2447=) c.7293C>T (p.Ser2431=) c.7260C>T (p.Ser2420=) c.7230C>T (p.Ser2410=) c.7227C>T (p.Ser2409=) c.7179C>T (p.Ser2393=) c.7143C>T (p.Ser2381=) c.7140C>T (p.Ser2380=) c.7095C>T (p.Ser2365=) n.7760C>T | COSMIC COSMIC |
| X | g.77508369G>C | CA517373965 | ATRX | c.7461C>G (p.Ser2487=) c.2559C>G (p.Ser853=) c.7347C>G (p.Ser2449=) c.*7089C>G (n.*7089C>G) n.5781C>G c.7458C>G (p.Ser2486=) c.7374C>G (p.Ser2458=) c.7344C>G (p.Ser2448=) c.7296C>G (p.Ser2432=) c.7257C>G (p.Ser2419=) c.7182C>G (p.Ser2394=) n.9053C>G c.7371C>G (p.Ser2457=) c.7341C>G (p.Ser2447=) c.7293C>G (p.Ser2431=) c.7260C>G (p.Ser2420=) c.7230C>G (p.Ser2410=) c.7227C>G (p.Ser2409=) c.7179C>G (p.Ser2393=) c.7143C>G (p.Ser2381=) c.7140C>G (p.Ser2380=) c.7095C>G (p.Ser2365=) n.7760C>G | |
| X | g.77508369G>T | CA517373966 | ATRX | c.7461C>A (p.Ser2487=) c.2559C>A (p.Ser853=) c.7347C>A (p.Ser2449=) c.*7089C>A (n.*7089C>A) n.5781C>A c.7458C>A (p.Ser2486=) c.7374C>A (p.Ser2458=) c.7344C>A (p.Ser2448=) c.7296C>A (p.Ser2432=) c.7257C>A (p.Ser2419=) c.7182C>A (p.Ser2394=) n.9053C>A c.7371C>A (p.Ser2457=) c.7341C>A (p.Ser2447=) c.7293C>A (p.Ser2431=) c.7260C>A (p.Ser2420=) c.7230C>A (p.Ser2410=) c.7227C>A (p.Ser2409=) c.7179C>A (p.Ser2393=) c.7143C>A (p.Ser2381=) c.7140C>A (p.Ser2380=) c.7095C>A (p.Ser2365=) n.7760C>A | dbSNP |
| X | g.77508370G>A | CA413703454 | ATRX | c.7460C>T (p.Ser2487Phe) c.2558C>T (p.Ser853Phe) c.7346C>T (p.Ser2449Phe) c.*7088C>T (n.*7088C>T) n.5780C>T c.7457C>T (p.Ser2486Phe) c.7373C>T (p.Ser2458Phe) c.7343C>T (p.Ser2448Phe) c.7295C>T (p.Ser2432Phe) c.7256C>T (p.Ser2419Phe) c.7181C>T (p.Ser2394Phe) n.9052C>T c.7370C>T (p.Ser2457Phe) c.7340C>T (p.Ser2447Phe) c.7292C>T (p.Ser2431Phe) c.7259C>T (p.Ser2420Phe) c.7229C>T (p.Ser2410Phe) c.7226C>T (p.Ser2409Phe) c.7178C>T (p.Ser2393Phe) c.7142C>T (p.Ser2381Phe) c.7139C>T (p.Ser2380Phe) c.7094C>T (p.Ser2365Phe) n.7759C>T | dbSNP |
| X | g.77508370G>C | CA413703455 | ATRX | c.7460C>G (p.Ser2487Cys) c.2558C>G (p.Ser853Cys) c.7346C>G (p.Ser2449Cys) c.*7088C>G (n.*7088C>G) n.5780C>G c.7457C>G (p.Ser2486Cys) c.7373C>G (p.Ser2458Cys) c.7343C>G (p.Ser2448Cys) c.7295C>G (p.Ser2432Cys) c.7256C>G (p.Ser2419Cys) c.7181C>G (p.Ser2394Cys) n.9052C>G c.7370C>G (p.Ser2457Cys) c.7340C>G (p.Ser2447Cys) c.7292C>G (p.Ser2431Cys) c.7259C>G (p.Ser2420Cys) c.7229C>G (p.Ser2410Cys) c.7226C>G (p.Ser2409Cys) c.7178C>G (p.Ser2393Cys) c.7142C>G (p.Ser2381Cys) c.7139C>G (p.Ser2380Cys) c.7094C>G (p.Ser2365Cys) n.7759C>G | |
| X | g.77508370G= | CA2438929019 | ATRX | c.7460C= (p.Ser2487=) c.2558C= (p.Ser853=) c.7346C= (p.Ser2449=) c.*7088C= (n.*7088C=) n.5780C= c.7457C= (p.Ser2486=) c.7373C= (p.Ser2458=) c.7343C= (p.Ser2448=) c.7295C= (p.Ser2432=) c.7256C= (p.Ser2419=) c.7181C= (p.Ser2394=) n.9052C= c.7370C= (p.Ser2457=) c.7340C= (p.Ser2447=) c.7292C= (p.Ser2431=) c.7259C= (p.Ser2420=) c.7229C= (p.Ser2410=) c.7226C= (p.Ser2409=) c.7178C= (p.Ser2393=) c.7142C= (p.Ser2381=) c.7139C= (p.Ser2380=) c.7094C= (p.Ser2365=) n.7759C= | |
| X | g.77508370G>T | CA413703456 | ATRX | c.7460C>A (p.Ser2487Tyr) c.2558C>A (p.Ser853Tyr) c.7346C>A (p.Ser2449Tyr) c.*7088C>A (n.*7088C>A) n.5780C>A c.7457C>A (p.Ser2486Tyr) c.7373C>A (p.Ser2458Tyr) c.7343C>A (p.Ser2448Tyr) c.7295C>A (p.Ser2432Tyr) c.7256C>A (p.Ser2419Tyr) c.7181C>A (p.Ser2394Tyr) n.9052C>A c.7370C>A (p.Ser2457Tyr) c.7340C>A (p.Ser2447Tyr) c.7292C>A (p.Ser2431Tyr) c.7259C>A (p.Ser2420Tyr) c.7229C>A (p.Ser2410Tyr) c.7226C>A (p.Ser2409Tyr) c.7178C>A (p.Ser2393Tyr) c.7142C>A (p.Ser2381Tyr) c.7139C>A (p.Ser2380Tyr) c.7094C>A (p.Ser2365Tyr) n.7759C>A | |
| X | g.77508371A= | CA2438929020 | ATRX | c.7459T= (p.Ser2487=) c.2557T= (p.Ser853=) c.7345T= (p.Ser2449=) c.*7087T= (n.*7087T=) n.5779T= c.7456T= (p.Ser2486=) c.7372T= (p.Ser2458=) c.7342T= (p.Ser2448=) c.7294T= (p.Ser2432=) c.7255T= (p.Ser2419=) c.7180T= (p.Ser2394=) n.9051T= c.7369T= (p.Ser2457=) c.7339T= (p.Ser2447=) c.7291T= (p.Ser2431=) c.7258T= (p.Ser2420=) c.7228T= (p.Ser2410=) c.7225T= (p.Ser2409=) c.7177T= (p.Ser2393=) c.7141T= (p.Ser2381=) c.7138T= (p.Ser2380=) c.7093T= (p.Ser2365=) n.7758T= | |
| X | g.77508371A>C | CA413703459 | ATRX | c.7459T>G (p.Ser2487Ala) c.2557T>G (p.Ser853Ala) c.7345T>G (p.Ser2449Ala) c.*7087T>G (n.*7087T>G) n.5779T>G c.7456T>G (p.Ser2486Ala) c.7372T>G (p.Ser2458Ala) c.7342T>G (p.Ser2448Ala) c.7294T>G (p.Ser2432Ala) c.7255T>G (p.Ser2419Ala) c.7180T>G (p.Ser2394Ala) n.9051T>G c.7369T>G (p.Ser2457Ala) c.7339T>G (p.Ser2447Ala) c.7291T>G (p.Ser2431Ala) c.7258T>G (p.Ser2420Ala) c.7228T>G (p.Ser2410Ala) c.7225T>G (p.Ser2409Ala) c.7177T>G (p.Ser2393Ala) c.7141T>G (p.Ser2381Ala) c.7138T>G (p.Ser2380Ala) c.7093T>G (p.Ser2365Ala) n.7758T>G | |
| X | g.77508371A>G | CA331560032 | ATRX | c.7459T>C (p.Ser2487Pro) c.2557T>C (p.Ser853Pro) c.7345T>C (p.Ser2449Pro) c.*7087T>C (n.*7087T>C) n.5779T>C c.7456T>C (p.Ser2486Pro) c.7372T>C (p.Ser2458Pro) c.7342T>C (p.Ser2448Pro) c.7294T>C (p.Ser2432Pro) c.7255T>C (p.Ser2419Pro) c.7180T>C (p.Ser2394Pro) n.9051T>C c.7369T>C (p.Ser2457Pro) c.7339T>C (p.Ser2447Pro) c.7291T>C (p.Ser2431Pro) c.7258T>C (p.Ser2420Pro) c.7228T>C (p.Ser2410Pro) c.7225T>C (p.Ser2409Pro) c.7177T>C (p.Ser2393Pro) c.7141T>C (p.Ser2381Pro) c.7138T>C (p.Ser2380Pro) c.7093T>C (p.Ser2365Pro) n.7758T>C | dbSNP |
| X | g.77508371A>T | CA413703457 | ATRX | c.7459T>A (p.Ser2487Thr) c.2557T>A (p.Ser853Thr) c.7345T>A (p.Ser2449Thr) c.*7087T>A (n.*7087T>A) n.5779T>A c.7456T>A (p.Ser2486Thr) c.7372T>A (p.Ser2458Thr) c.7342T>A (p.Ser2448Thr) c.7294T>A (p.Ser2432Thr) c.7255T>A (p.Ser2419Thr) c.7180T>A (p.Ser2394Thr) n.9051T>A c.7369T>A (p.Ser2457Thr) c.7339T>A (p.Ser2447Thr) c.7291T>A (p.Ser2431Thr) c.7258T>A (p.Ser2420Thr) c.7228T>A (p.Ser2410Thr) c.7225T>A (p.Ser2409Thr) c.7177T>A (p.Ser2393Thr) c.7141T>A (p.Ser2381Thr) c.7138T>A (p.Ser2380Thr) c.7093T>A (p.Ser2365Thr) n.7758T>A | |
| X | g.77508372A>C | CA517373971 | ATRX | c.7458T>G (p.Pro2486=) c.2556T>G (p.Pro852=) c.7344T>G (p.Pro2448=) c.*7086T>G (n.*7086T>G) n.5778T>G c.7455T>G (p.Pro2485=) c.7371T>G (p.Pro2457=) c.7341T>G (p.Pro2447=) c.7293T>G (p.Pro2431=) c.7254T>G (p.Pro2418=) c.7179T>G (p.Pro2393=) n.9050T>G c.7368T>G (p.Pro2456=) c.7338T>G (p.Pro2446=) c.7290T>G (p.Pro2430=) c.7257T>G (p.Pro2419=) c.7227T>G (p.Pro2409=) c.7224T>G (p.Pro2408=) c.7176T>G (p.Pro2392=) c.7140T>G (p.Pro2380=) c.7137T>G (p.Pro2379=) c.7092T>G (p.Pro2364=) n.7757T>G | |
| X | g.77508372A>G | CA517373969 | ATRX | c.7458T>C (p.Pro2486=) c.2556T>C (p.Pro852=) c.7344T>C (p.Pro2448=) c.*7086T>C (n.*7086T>C) n.5778T>C c.7455T>C (p.Pro2485=) c.7371T>C (p.Pro2457=) c.7341T>C (p.Pro2447=) c.7293T>C (p.Pro2431=) c.7254T>C (p.Pro2418=) c.7179T>C (p.Pro2393=) n.9050T>C c.7368T>C (p.Pro2456=) c.7338T>C (p.Pro2446=) c.7290T>C (p.Pro2430=) c.7257T>C (p.Pro2419=) c.7227T>C (p.Pro2409=) c.7224T>C (p.Pro2408=) c.7176T>C (p.Pro2392=) c.7140T>C (p.Pro2380=) c.7137T>C (p.Pro2379=) c.7092T>C (p.Pro2364=) n.7757T>C | |
| X | g.77508372A>T | CA517373970 | ATRX | c.7458T>A (p.Pro2486=) c.2556T>A (p.Pro852=) c.7344T>A (p.Pro2448=) c.*7086T>A (n.*7086T>A) n.5778T>A c.7455T>A (p.Pro2485=) c.7371T>A (p.Pro2457=) c.7341T>A (p.Pro2447=) c.7293T>A (p.Pro2431=) c.7254T>A (p.Pro2418=) c.7179T>A (p.Pro2393=) n.9050T>A c.7368T>A (p.Pro2456=) c.7338T>A (p.Pro2446=) c.7290T>A (p.Pro2430=) c.7257T>A (p.Pro2419=) c.7227T>A (p.Pro2409=) c.7224T>A (p.Pro2408=) c.7176T>A (p.Pro2392=) c.7140T>A (p.Pro2380=) c.7137T>A (p.Pro2379=) c.7092T>A (p.Pro2364=) n.7757T>A | |
| X | g.77508373G>A | CA413703467 | ATRX | c.7457C>T (p.Pro2486Leu) c.2555C>T (p.Pro852Leu) c.7343C>T (p.Pro2448Leu) c.*7085C>T (n.*7085C>T) n.5777C>T c.7454C>T (p.Pro2485Leu) c.7370C>T (p.Pro2457Leu) c.7340C>T (p.Pro2447Leu) c.7292C>T (p.Pro2431Leu) c.7253C>T (p.Pro2418Leu) c.7178C>T (p.Pro2393Leu) n.9049C>T c.7367C>T (p.Pro2456Leu) c.7337C>T (p.Pro2446Leu) c.7289C>T (p.Pro2430Leu) c.7256C>T (p.Pro2419Leu) c.7226C>T (p.Pro2409Leu) c.7223C>T (p.Pro2408Leu) c.7175C>T (p.Pro2392Leu) c.7139C>T (p.Pro2380Leu) c.7136C>T (p.Pro2379Leu) c.7091C>T (p.Pro2364Leu) n.7756C>T | |
| X | g.77508373G>C | CA413703463 | ATRX | c.7457C>G (p.Pro2486Arg) c.2555C>G (p.Pro852Arg) c.7343C>G (p.Pro2448Arg) c.*7085C>G (n.*7085C>G) n.5777C>G c.7454C>G (p.Pro2485Arg) c.7370C>G (p.Pro2457Arg) c.7340C>G (p.Pro2447Arg) c.7292C>G (p.Pro2431Arg) c.7253C>G (p.Pro2418Arg) c.7178C>G (p.Pro2393Arg) n.9049C>G c.7367C>G (p.Pro2456Arg) c.7337C>G (p.Pro2446Arg) c.7289C>G (p.Pro2430Arg) c.7256C>G (p.Pro2419Arg) c.7226C>G (p.Pro2409Arg) c.7223C>G (p.Pro2408Arg) c.7175C>G (p.Pro2392Arg) c.7139C>G (p.Pro2380Arg) c.7136C>G (p.Pro2379Arg) c.7091C>G (p.Pro2364Arg) n.7756C>G | |
| X | g.77508373G>T | CA413703465 | ATRX | c.7457C>A (p.Pro2486His) c.2555C>A (p.Pro852His) c.7343C>A (p.Pro2448His) c.*7085C>A (n.*7085C>A) n.5777C>A c.7454C>A (p.Pro2485His) c.7370C>A (p.Pro2457His) c.7340C>A (p.Pro2447His) c.7292C>A (p.Pro2431His) c.7253C>A (p.Pro2418His) c.7178C>A (p.Pro2393His) n.9049C>A c.7367C>A (p.Pro2456His) c.7337C>A (p.Pro2446His) c.7289C>A (p.Pro2430His) c.7256C>A (p.Pro2419His) c.7226C>A (p.Pro2409His) c.7223C>A (p.Pro2408His) c.7175C>A (p.Pro2392His) c.7139C>A (p.Pro2380His) c.7136C>A (p.Pro2379His) c.7091C>A (p.Pro2364His) n.7756C>A | |
| X | g.77508374G>A | CA413703470 | ATRX | c.7456C>T (p.Pro2486Ser) c.2554C>T (p.Pro852Ser) c.7342C>T (p.Pro2448Ser) c.*7084C>T (n.*7084C>T) n.5776C>T c.7453C>T (p.Pro2485Ser) c.7369C>T (p.Pro2457Ser) c.7339C>T (p.Pro2447Ser) c.7291C>T (p.Pro2431Ser) c.7252C>T (p.Pro2418Ser) c.7177C>T (p.Pro2393Ser) n.9048C>T c.7366C>T (p.Pro2456Ser) c.7336C>T (p.Pro2446Ser) c.7288C>T (p.Pro2430Ser) c.7255C>T (p.Pro2419Ser) c.7225C>T (p.Pro2409Ser) c.7222C>T (p.Pro2408Ser) c.7174C>T (p.Pro2392Ser) c.7138C>T (p.Pro2380Ser) c.7135C>T (p.Pro2379Ser) c.7090C>T (p.Pro2364Ser) n.7755C>T | |
| X | g.77508374G>C | CA413703473 | ATRX | c.7456C>G (p.Pro2486Ala) c.2554C>G (p.Pro852Ala) c.7342C>G (p.Pro2448Ala) c.*7084C>G (n.*7084C>G) n.5776C>G c.7453C>G (p.Pro2485Ala) c.7369C>G (p.Pro2457Ala) c.7339C>G (p.Pro2447Ala) c.7291C>G (p.Pro2431Ala) c.7252C>G (p.Pro2418Ala) c.7177C>G (p.Pro2393Ala) n.9048C>G c.7366C>G (p.Pro2456Ala) c.7336C>G (p.Pro2446Ala) c.7288C>G (p.Pro2430Ala) c.7255C>G (p.Pro2419Ala) c.7225C>G (p.Pro2409Ala) c.7222C>G (p.Pro2408Ala) c.7174C>G (p.Pro2392Ala) c.7138C>G (p.Pro2380Ala) c.7135C>G (p.Pro2379Ala) c.7090C>G (p.Pro2364Ala) n.7755C>G | |
| X | g.77508374G>T | CA413703476 | ATRX | c.7456C>A (p.Pro2486Thr) c.2554C>A (p.Pro852Thr) c.7342C>A (p.Pro2448Thr) c.*7084C>A (n.*7084C>A) n.5776C>A c.7453C>A (p.Pro2485Thr) c.7369C>A (p.Pro2457Thr) c.7339C>A (p.Pro2447Thr) c.7291C>A (p.Pro2431Thr) c.7252C>A (p.Pro2418Thr) c.7177C>A (p.Pro2393Thr) n.9048C>A c.7366C>A (p.Pro2456Thr) c.7336C>A (p.Pro2446Thr) c.7288C>A (p.Pro2430Thr) c.7255C>A (p.Pro2419Thr) c.7225C>A (p.Pro2409Thr) c.7222C>A (p.Pro2408Thr) c.7174C>A (p.Pro2392Thr) c.7138C>A (p.Pro2380Thr) c.7135C>A (p.Pro2379Thr) c.7090C>A (p.Pro2364Thr) n.7755C>A | |
| X | g.77508375T>A | CA517373973 | ATRX | c.7455A>T (p.Gly2485=) c.2553A>T (p.Gly851=) c.7341A>T (p.Gly2447=) c.*7083A>T (n.*7083A>T) n.5775A>T c.7452A>T (p.Gly2484=) c.7368A>T (p.Gly2456=) c.7338A>T (p.Gly2446=) c.7290A>T (p.Gly2430=) c.7251A>T (p.Gly2417=) c.7176A>T (p.Gly2392=) n.9047A>T c.7365A>T (p.Gly2455=) c.7335A>T (p.Gly2445=) c.7287A>T (p.Gly2429=) c.7254A>T (p.Gly2418=) c.7224A>T (p.Gly2408=) c.7221A>T (p.Gly2407=) c.7173A>T (p.Gly2391=) c.7137A>T (p.Gly2379=) c.7134A>T (p.Gly2378=) c.7089A>T (p.Gly2363=) n.7754A>T | |
| X | g.77508375T>C | CA517373974 | ATRX | c.7455A>G (p.Gly2485=) c.2553A>G (p.Gly851=) c.7341A>G (p.Gly2447=) c.*7083A>G (n.*7083A>G) n.5775A>G c.7452A>G (p.Gly2484=) c.7368A>G (p.Gly2456=) c.7338A>G (p.Gly2446=) c.7290A>G (p.Gly2430=) c.7251A>G (p.Gly2417=) c.7176A>G (p.Gly2392=) n.9047A>G c.7365A>G (p.Gly2455=) c.7335A>G (p.Gly2445=) c.7287A>G (p.Gly2429=) c.7254A>G (p.Gly2418=) c.7224A>G (p.Gly2408=) c.7221A>G (p.Gly2407=) c.7173A>G (p.Gly2391=) c.7137A>G (p.Gly2379=) c.7134A>G (p.Gly2378=) c.7089A>G (p.Gly2363=) n.7754A>G | |
| X | g.77508375T>G | CA517373975 | ATRX | c.7455A>C (p.Gly2485=) c.2553A>C (p.Gly851=) c.7341A>C (p.Gly2447=) c.*7083A>C (n.*7083A>C) n.5775A>C c.7452A>C (p.Gly2484=) c.7368A>C (p.Gly2456=) c.7338A>C (p.Gly2446=) c.7290A>C (p.Gly2430=) c.7251A>C (p.Gly2417=) c.7176A>C (p.Gly2392=) n.9047A>C c.7365A>C (p.Gly2455=) c.7335A>C (p.Gly2445=) c.7287A>C (p.Gly2429=) c.7254A>C (p.Gly2418=) c.7224A>C (p.Gly2408=) c.7221A>C (p.Gly2407=) c.7173A>C (p.Gly2391=) c.7137A>C (p.Gly2379=) c.7134A>C (p.Gly2378=) c.7089A>C (p.Gly2363=) n.7754A>C | |
| X | g.77508376C>A | CA413703479 | ATRX | c.7454G>T (p.Gly2485Val) c.2552G>T (p.Gly851Val) c.7340G>T (p.Gly2447Val) c.*7082G>T (n.*7082G>T) n.5774G>T c.7451G>T (p.Gly2484Val) c.7367G>T (p.Gly2456Val) c.7337G>T (p.Gly2446Val) c.7289G>T (p.Gly2430Val) c.7250G>T (p.Gly2417Val) c.7175G>T (p.Gly2392Val) n.9046G>T c.7364G>T (p.Gly2455Val) c.7334G>T (p.Gly2445Val) c.7286G>T (p.Gly2429Val) c.7253G>T (p.Gly2418Val) c.7223G>T (p.Gly2408Val) c.7220G>T (p.Gly2407Val) c.7172G>T (p.Gly2391Val) c.7136G>T (p.Gly2379Val) c.7133G>T (p.Gly2378Val) c.7088G>T (p.Gly2363Val) n.7753G>T | |
| X | g.77508376C= | CA2438929021 | ATRX | c.7454G= (p.Gly2485=) c.2552G= (p.Gly851=) c.7340G= (p.Gly2447=) c.*7082G= (n.*7082G=) n.5774G= c.7451G= (p.Gly2484=) c.7367G= (p.Gly2456=) c.7337G= (p.Gly2446=) c.7289G= (p.Gly2430=) c.7250G= (p.Gly2417=) c.7175G= (p.Gly2392=) n.9046G= c.7364G= (p.Gly2455=) c.7334G= (p.Gly2445=) c.7286G= (p.Gly2429=) c.7253G= (p.Gly2418=) c.7223G= (p.Gly2408=) c.7220G= (p.Gly2407=) c.7172G= (p.Gly2391=) c.7136G= (p.Gly2379=) c.7133G= (p.Gly2378=) c.7088G= (p.Gly2363=) n.7753G= | |
| X | g.77508376C>G | CA413703481 | ATRX | c.7454G>C (p.Gly2485Ala) c.2552G>C (p.Gly851Ala) c.7340G>C (p.Gly2447Ala) c.*7082G>C (n.*7082G>C) n.5774G>C c.7451G>C (p.Gly2484Ala) c.7367G>C (p.Gly2456Ala) c.7337G>C (p.Gly2446Ala) c.7289G>C (p.Gly2430Ala) c.7250G>C (p.Gly2417Ala) c.7175G>C (p.Gly2392Ala) n.9046G>C c.7364G>C (p.Gly2455Ala) c.7334G>C (p.Gly2445Ala) c.7286G>C (p.Gly2429Ala) c.7253G>C (p.Gly2418Ala) c.7223G>C (p.Gly2408Ala) c.7220G>C (p.Gly2407Ala) c.7172G>C (p.Gly2391Ala) c.7136G>C (p.Gly2379Ala) c.7133G>C (p.Gly2378Ala) c.7088G>C (p.Gly2363Ala) n.7753G>C | |
| X | g.77508376C>T | CA10457374 | ATRX | c.7454G>A (p.Gly2485Glu) c.2552G>A (p.Gly851Glu) c.7340G>A (p.Gly2447Glu) c.*7082G>A (n.*7082G>A) n.5774G>A c.7451G>A (p.Gly2484Glu) c.7367G>A (p.Gly2456Glu) c.7337G>A (p.Gly2446Glu) c.7289G>A (p.Gly2430Glu) c.7250G>A (p.Gly2417Glu) c.7175G>A (p.Gly2392Glu) n.9046G>A c.7364G>A (p.Gly2455Glu) c.7334G>A (p.Gly2445Glu) c.7286G>A (p.Gly2429Glu) c.7253G>A (p.Gly2418Glu) c.7223G>A (p.Gly2408Glu) c.7220G>A (p.Gly2407Glu) c.7172G>A (p.Gly2391Glu) c.7136G>A (p.Gly2379Glu) c.7133G>A (p.Gly2378Glu) c.7088G>A (p.Gly2363Glu) n.7753G>A | ClinVar dbSNP ExAC gnomAD v2 |
| X | g.77508377C>A | CA413703487 | ATRX | c.7453G>T (p.Gly2485Ter) c.2551G>T (p.Gly851Ter) c.7339G>T (p.Gly2447Ter) c.*7081G>T (n.*7081G>T) n.5773G>T c.7450G>T (p.Gly2484Ter) c.7366G>T (p.Gly2456Ter) c.7336G>T (p.Gly2446Ter) c.7288G>T (p.Gly2430Ter) c.7249G>T (p.Gly2417Ter) c.7174G>T (p.Gly2392Ter) n.9045G>T c.7363G>T (p.Gly2455Ter) c.7333G>T (p.Gly2445Ter) c.7285G>T (p.Gly2429Ter) c.7252G>T (p.Gly2418Ter) c.7222G>T (p.Gly2408Ter) c.7219G>T (p.Gly2407Ter) c.7171G>T (p.Gly2391Ter) c.7135G>T (p.Gly2379Ter) c.7132G>T (p.Gly2378Ter) c.7087G>T (p.Gly2363Ter) n.7752G>T | |
| X | g.77508377C>G | CA413703489 | ATRX | c.7453G>C (p.Gly2485Arg) c.2551G>C (p.Gly851Arg) c.7339G>C (p.Gly2447Arg) c.*7081G>C (n.*7081G>C) n.5773G>C c.7450G>C (p.Gly2484Arg) c.7366G>C (p.Gly2456Arg) c.7336G>C (p.Gly2446Arg) c.7288G>C (p.Gly2430Arg) c.7249G>C (p.Gly2417Arg) c.7174G>C (p.Gly2392Arg) n.9045G>C c.7363G>C (p.Gly2455Arg) c.7333G>C (p.Gly2445Arg) c.7285G>C (p.Gly2429Arg) c.7252G>C (p.Gly2418Arg) c.7222G>C (p.Gly2408Arg) c.7219G>C (p.Gly2407Arg) c.7171G>C (p.Gly2391Arg) c.7135G>C (p.Gly2379Arg) c.7132G>C (p.Gly2378Arg) c.7087G>C (p.Gly2363Arg) n.7752G>C | |
| X | g.77508377C>T | CA413703490 | ATRX | c.7453G>A (p.Gly2485Arg) c.2551G>A (p.Gly851Arg) c.7339G>A (p.Gly2447Arg) c.*7081G>A (n.*7081G>A) n.5773G>A c.7450G>A (p.Gly2484Arg) c.7366G>A (p.Gly2456Arg) c.7336G>A (p.Gly2446Arg) c.7288G>A (p.Gly2430Arg) c.7249G>A (p.Gly2417Arg) c.7174G>A (p.Gly2392Arg) n.9045G>A c.7363G>A (p.Gly2455Arg) c.7333G>A (p.Gly2445Arg) c.7285G>A (p.Gly2429Arg) c.7252G>A (p.Gly2418Arg) c.7222G>A (p.Gly2408Arg) c.7219G>A (p.Gly2407Arg) c.7171G>A (p.Gly2391Arg) c.7135G>A (p.Gly2379Arg) c.7132G>A (p.Gly2378Arg) c.7087G>A (p.Gly2363Arg) n.7752G>A | |
| X | g.77508378T>A | CA517373977 | ATRX | c.7452A>T (p.Pro2484=) c.2550A>T (p.Pro850=) c.7338A>T (p.Pro2446=) c.*7080A>T (n.*7080A>T) n.5772A>T c.7449A>T (p.Pro2483=) c.7365A>T (p.Pro2455=) c.7335A>T (p.Pro2445=) c.7287A>T (p.Pro2429=) c.7248A>T (p.Pro2416=) c.7173A>T (p.Pro2391=) n.9044A>T c.7362A>T (p.Pro2454=) c.7332A>T (p.Pro2444=) c.7284A>T (p.Pro2428=) c.7251A>T (p.Pro2417=) c.7221A>T (p.Pro2407=) c.7218A>T (p.Pro2406=) c.7170A>T (p.Pro2390=) c.7134A>T (p.Pro2378=) c.7131A>T (p.Pro2377=) c.7086A>T (p.Pro2362=) n.7751A>T | |
| X | g.77508378T>C | CA517373978 | ATRX | c.7452A>G (p.Pro2484=) c.2550A>G (p.Pro850=) c.7338A>G (p.Pro2446=) c.*7080A>G (n.*7080A>G) n.5772A>G c.7449A>G (p.Pro2483=) c.7365A>G (p.Pro2455=) c.7335A>G (p.Pro2445=) c.7287A>G (p.Pro2429=) c.7248A>G (p.Pro2416=) c.7173A>G (p.Pro2391=) n.9044A>G c.7362A>G (p.Pro2454=) c.7332A>G (p.Pro2444=) c.7284A>G (p.Pro2428=) c.7251A>G (p.Pro2417=) c.7221A>G (p.Pro2407=) c.7218A>G (p.Pro2406=) c.7170A>G (p.Pro2390=) c.7134A>G (p.Pro2378=) c.7131A>G (p.Pro2377=) c.7086A>G (p.Pro2362=) n.7751A>G | |
| X | g.77508378T>G | CA517373979 | ATRX | c.7452A>C (p.Pro2484=) c.2550A>C (p.Pro850=) c.7338A>C (p.Pro2446=) c.*7080A>C (n.*7080A>C) n.5772A>C c.7449A>C (p.Pro2483=) c.7365A>C (p.Pro2455=) c.7335A>C (p.Pro2445=) c.7287A>C (p.Pro2429=) c.7248A>C (p.Pro2416=) c.7173A>C (p.Pro2391=) n.9044A>C c.7362A>C (p.Pro2454=) c.7332A>C (p.Pro2444=) c.7284A>C (p.Pro2428=) c.7251A>C (p.Pro2417=) c.7221A>C (p.Pro2407=) c.7218A>C (p.Pro2406=) c.7170A>C (p.Pro2390=) c.7134A>C (p.Pro2378=) c.7131A>C (p.Pro2377=) c.7086A>C (p.Pro2362=) n.7751A>C |