WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.27367540G>A | CA346199365 | EIF2B4 | c.802C>T (p.Pro268Ser) c.*68C>T (n.*68C>T) c.378C>T c.799C>T (p.Pro267Ser) c.862C>T (p.Pro288Ser) n.2311C>T c.865C>T (p.Pro289Ser) c.793C>T (p.Pro265Ser) c.757C>T (p.Pro253Ser) c.754C>T (p.Pro252Ser) c.184C>T (p.Pro62Ser) c.709C>T (p.Pro237Ser) c.217C>T (p.Pro73Ser) | |
| 2 | g.27367540G>C | CA346199366 | EIF2B4 | c.802C>G (p.Pro268Ala) c.*68C>G (n.*68C>G) c.378C>G c.799C>G (p.Pro267Ala) c.862C>G (p.Pro288Ala) n.2311C>G c.865C>G (p.Pro289Ala) c.793C>G (p.Pro265Ala) c.757C>G (p.Pro253Ala) c.754C>G (p.Pro252Ala) c.184C>G (p.Pro62Ala) c.709C>G (p.Pro237Ala) c.217C>G (p.Pro73Ala) | gnomAD v4 |
| 2 | g.27367540G= | CA1240245500 | EIF2B4 | c.802C= (p.Pro268=) c.*68C= (n.*68C=) c.378C= c.799C= (p.Pro267=) c.862C= (p.Pro288=) n.2311C= c.865C= (p.Pro289=) c.793C= (p.Pro265=) c.757C= (p.Pro253=) c.754C= (p.Pro252=) c.184C= (p.Pro62=) c.709C= (p.Pro237=) c.217C= (p.Pro73=) | |
| 2 | g.27367540G>T | CA346199367 | EIF2B4 | c.802C>A (p.Pro268Thr) c.*68C>A (n.*68C>A) c.378C>A c.799C>A (p.Pro267Thr) c.862C>A (p.Pro288Thr) n.2311C>A c.865C>A (p.Pro289Thr) c.793C>A (p.Pro265Thr) c.757C>A (p.Pro253Thr) c.754C>A (p.Pro252Thr) c.184C>A (p.Pro62Thr) c.709C>A (p.Pro237Thr) c.217C>A (p.Pro73Thr) | dbSNP |
| 2 | g.27367541A>C | CA425410908 | EIF2B4 | c.801T>G (p.Arg267=) c.*67T>G (n.*67T>G) c.377T>G c.798T>G (p.Arg266=) c.861T>G (p.Arg287=) n.2310T>G c.864T>G (p.Arg288=) c.792T>G (p.Arg264=) c.756T>G (p.Arg252=) c.753T>G (p.Arg251=) c.183T>G (p.Arg61=) c.708T>G (p.Arg236=) c.216T>G (p.Arg72=) | |
| 2 | g.27367541A>G | CA425410909 | EIF2B4 | c.801T>C (p.Arg267=) c.*67T>C (n.*67T>C) c.377T>C c.798T>C (p.Arg266=) c.861T>C (p.Arg287=) n.2310T>C c.864T>C (p.Arg288=) c.792T>C (p.Arg264=) c.756T>C (p.Arg252=) c.753T>C (p.Arg251=) c.183T>C (p.Arg61=) c.708T>C (p.Arg236=) c.216T>C (p.Arg72=) | gnomAD v4 |
| 2 | g.27367541A>T | CA425410910 | EIF2B4 | c.801T>A (p.Arg267=) c.*67T>A (n.*67T>A) c.377T>A c.798T>A (p.Arg266=) c.861T>A (p.Arg287=) n.2310T>A c.864T>A (p.Arg288=) c.792T>A (p.Arg264=) c.756T>A (p.Arg252=) c.753T>A (p.Arg251=) c.183T>A (p.Arg61=) c.708T>A (p.Arg236=) c.216T>A (p.Arg72=) | |
| 2 | g.27367542C>A | CA346199368 | EIF2B4 | c.800G>T (p.Arg267Leu) c.*66G>T (n.*66G>T) c.376G>T c.797G>T (p.Arg266Leu) c.860G>T (p.Arg287Leu) n.2309G>T c.863G>T (p.Arg288Leu) c.791G>T (p.Arg264Leu) c.755G>T (p.Arg252Leu) c.752G>T (p.Arg251Leu) c.182G>T (p.Arg61Leu) c.707G>T (p.Arg236Leu) c.215G>T (p.Arg72Leu) | |
| 2 | g.27367542C>G | CA346199369 | EIF2B4 | c.800G>C (p.Arg267Pro) c.*66G>C (n.*66G>C) c.376G>C c.797G>C (p.Arg266Pro) c.860G>C (p.Arg287Pro) n.2309G>C c.863G>C (p.Arg288Pro) c.791G>C (p.Arg264Pro) c.755G>C (p.Arg252Pro) c.752G>C (p.Arg251Pro) c.182G>C (p.Arg61Pro) c.707G>C (p.Arg236Pro) c.215G>C (p.Arg72Pro) | |
| 2 | g.27367542C>T | CA346199370 | EIF2B4 | c.800G>A (p.Arg267His) c.*66G>A (n.*66G>A) c.376G>A c.797G>A (p.Arg266His) c.860G>A (p.Arg287His) n.2309G>A c.863G>A (p.Arg288His) c.791G>A (p.Arg264His) c.755G>A (p.Arg252His) c.752G>A (p.Arg251His) c.182G>A (p.Arg61His) c.707G>A (p.Arg236His) c.215G>A (p.Arg72His) | gnomAD v4 COSMIC COSMIC |
| 2 | g.27367543G>A | CA44512383 | EIF2B4 | c.799C>T (p.Arg267Cys) c.*65C>T (n.*65C>T) c.375C>T c.796C>T (p.Arg266Cys) c.859C>T (p.Arg287Cys) n.2308C>T c.862C>T (p.Arg288Cys) c.790C>T (p.Arg264Cys) c.754C>T (p.Arg252Cys) c.751C>T (p.Arg251Cys) c.181C>T (p.Arg61Cys) c.706C>T (p.Arg236Cys) c.214C>T (p.Arg72Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.27367543G>C | CA346199371 | EIF2B4 | c.799C>G (p.Arg267Gly) c.*65C>G (n.*65C>G) c.375C>G c.796C>G (p.Arg266Gly) c.859C>G (p.Arg287Gly) n.2308C>G c.862C>G (p.Arg288Gly) c.790C>G (p.Arg264Gly) c.754C>G (p.Arg252Gly) c.751C>G (p.Arg251Gly) c.181C>G (p.Arg61Gly) c.706C>G (p.Arg236Gly) c.214C>G (p.Arg72Gly) | |
| 2 | g.27367543G= | CA1240245503 | EIF2B4 | c.799C= (p.Arg267=) c.*65C= (n.*65C=) c.375C= c.796C= (p.Arg266=) c.859C= (p.Arg287=) n.2308C= c.862C= (p.Arg288=) c.790C= (p.Arg264=) c.754C= (p.Arg252=) c.751C= (p.Arg251=) c.181C= (p.Arg61=) c.706C= (p.Arg236=) c.214C= (p.Arg72=) | |
| 2 | g.27367543G>T | CA346199372 | EIF2B4 | c.799C>A (p.Arg267Ser) c.*65C>A (n.*65C>A) c.375C>A c.796C>A (p.Arg266Ser) c.859C>A (p.Arg287Ser) n.2308C>A c.862C>A (p.Arg288Ser) c.790C>A (p.Arg264Ser) c.754C>A (p.Arg252Ser) c.751C>A (p.Arg251Ser) c.181C>A (p.Arg61Ser) c.706C>A (p.Arg236Ser) c.214C>A (p.Arg72Ser) | |
| 2 | g.27367544G>A | CA1576767 | EIF2B4 | c.798C>T (p.Cys266=) c.*64C>T (n.*64C>T) c.374C>T c.795C>T (p.Cys265=) c.858C>T (p.Cys286=) n.2307C>T c.861C>T (p.Cys287=) c.789C>T (p.Cys263=) c.753C>T (p.Cys251=) c.750C>T (p.Cys250=) c.180C>T (p.Cys60=) c.705C>T (p.Cys235=) c.213C>T (p.Cys71=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.27367544G>C | CA346199374 | EIF2B4 | c.798C>G (p.Cys266Trp) c.*64C>G (n.*64C>G) c.374C>G c.795C>G (p.Cys265Trp) c.858C>G (p.Cys286Trp) n.2307C>G c.861C>G (p.Cys287Trp) c.789C>G (p.Cys263Trp) c.753C>G (p.Cys251Trp) c.750C>G (p.Cys250Trp) c.180C>G (p.Cys60Trp) c.705C>G (p.Cys235Trp) c.213C>G (p.Cys71Trp) | |
| 2 | g.27367544G= | CA1240245505 | EIF2B4 | c.798C= (p.Cys266=) c.*64C= (n.*64C=) c.374C= c.795C= (p.Cys265=) c.858C= (p.Cys286=) n.2307C= c.861C= (p.Cys287=) c.789C= (p.Cys263=) c.753C= (p.Cys251=) c.750C= (p.Cys250=) c.180C= (p.Cys60=) c.705C= (p.Cys235=) c.213C= (p.Cys71=) | |
| 2 | g.27367544G>T | CA346199373 | EIF2B4 | c.798C>A (p.Cys266Ter) c.*64C>A (n.*64C>A) c.374C>A c.795C>A (p.Cys265Ter) c.858C>A (p.Cys286Ter) n.2307C>A c.861C>A (p.Cys287Ter) c.789C>A (p.Cys263Ter) c.753C>A (p.Cys251Ter) c.750C>A (p.Cys250Ter) c.180C>A (p.Cys60Ter) c.705C>A (p.Cys235Ter) c.213C>A (p.Cys71Ter) | |
| 2 | g.27367545C>A | CA346199375 | EIF2B4 | c.797G>T (p.Cys266Phe) c.*63G>T (n.*63G>T) c.373G>T c.794G>T (p.Cys265Phe) c.857G>T (p.Cys286Phe) n.2306G>T c.860G>T (p.Cys287Phe) c.788G>T (p.Cys263Phe) c.752G>T (p.Cys251Phe) c.749G>T (p.Cys250Phe) c.179G>T (p.Cys60Phe) c.704G>T (p.Cys235Phe) c.212G>T (p.Cys71Phe) | |
| 2 | g.27367545C>G | CA346199376 | EIF2B4 | c.797G>C (p.Cys266Ser) c.*63G>C (n.*63G>C) c.373G>C c.794G>C (p.Cys265Ser) c.857G>C (p.Cys286Ser) n.2306G>C c.860G>C (p.Cys287Ser) c.788G>C (p.Cys263Ser) c.752G>C (p.Cys251Ser) c.749G>C (p.Cys250Ser) c.179G>C (p.Cys60Ser) c.704G>C (p.Cys235Ser) c.212G>C (p.Cys71Ser) | |
| 2 | g.27367545C>T | CA346199377 | EIF2B4 | c.797G>A (p.Cys266Tyr) c.*63G>A (n.*63G>A) c.373G>A c.794G>A (p.Cys265Tyr) c.857G>A (p.Cys286Tyr) n.2306G>A c.860G>A (p.Cys287Tyr) c.788G>A (p.Cys263Tyr) c.752G>A (p.Cys251Tyr) c.749G>A (p.Cys250Tyr) c.179G>A (p.Cys60Tyr) c.704G>A (p.Cys235Tyr) c.212G>A (p.Cys71Tyr) | |
| 2 | g.27367546A>C | CA346199378 | EIF2B4 | c.796T>G (p.Cys266Gly) c.*62T>G (n.*62T>G) c.372T>G c.793T>G (p.Cys265Gly) c.856T>G (p.Cys286Gly) n.2305T>G c.859T>G (p.Cys287Gly) c.787T>G (p.Cys263Gly) c.751T>G (p.Cys251Gly) c.748T>G (p.Cys250Gly) c.178T>G (p.Cys60Gly) c.703T>G (p.Cys235Gly) c.211T>G (p.Cys71Gly) | |
| 2 | g.27367546A>G | CA346199379 | EIF2B4 | c.796T>C (p.Cys266Arg) c.*62T>C (n.*62T>C) c.372T>C c.793T>C (p.Cys265Arg) c.856T>C (p.Cys286Arg) n.2305T>C c.859T>C (p.Cys287Arg) c.787T>C (p.Cys263Arg) c.751T>C (p.Cys251Arg) c.748T>C (p.Cys250Arg) c.178T>C (p.Cys60Arg) c.703T>C (p.Cys235Arg) c.211T>C (p.Cys71Arg) | gnomAD v4 |
| 2 | g.27367546A>T | CA346199380 | EIF2B4 | c.796T>A (p.Cys266Ser) c.*62T>A (n.*62T>A) c.372T>A c.793T>A (p.Cys265Ser) c.856T>A (p.Cys286Ser) n.2305T>A c.859T>A (p.Cys287Ser) c.787T>A (p.Cys263Ser) c.751T>A (p.Cys251Ser) c.748T>A (p.Cys250Ser) c.178T>A (p.Cys60Ser) c.703T>A (p.Cys235Ser) c.211T>A (p.Cys71Ser) | |
| 2 | g.27367547C>A | CA346199381 | EIF2B4 | c.795G>T (p.Gln265His) c.*61G>T (n.*61G>T) c.371G>T c.792G>T (p.Gln264His) c.855G>T (p.Gln285His) n.2304G>T c.858G>T (p.Gln286His) c.786G>T (p.Gln262His) c.750G>T (p.Gln250His) c.747G>T (p.Gln249His) c.177G>T (p.Gln59His) c.702G>T (p.Gln234His) c.210G>T (p.Gln70His) | |
| 2 | g.27367547C>G | CA346199382 | EIF2B4 | c.795G>C (p.Gln265His) c.*61G>C (n.*61G>C) c.371G>C c.792G>C (p.Gln264His) c.855G>C (p.Gln285His) n.2304G>C c.858G>C (p.Gln286His) c.786G>C (p.Gln262His) c.750G>C (p.Gln250His) c.747G>C (p.Gln249His) c.177G>C (p.Gln59His) c.702G>C (p.Gln234His) c.210G>C (p.Gln70His) | |
| 2 | g.27367547C>T | CA425410921 | EIF2B4 | c.795G>A (p.Gln265=) c.*61G>A (n.*61G>A) c.371G>A c.792G>A (p.Gln264=) c.855G>A (p.Gln285=) n.2304G>A c.858G>A (p.Gln286=) c.786G>A (p.Gln262=) c.750G>A (p.Gln250=) c.747G>A (p.Gln249=) c.177G>A (p.Gln59=) c.702G>A (p.Gln234=) c.210G>A (p.Gln70=) | gnomAD v4 |
| 2 | g.27367548T>A | CA346199383 | EIF2B4 | c.794A>T (p.Gln265Leu) c.*60A>T (n.*60A>T) c.370A>T c.791A>T (p.Gln264Leu) c.854A>T (p.Gln285Leu) n.2303A>T c.857A>T (p.Gln286Leu) c.785A>T (p.Gln262Leu) c.749A>T (p.Gln250Leu) c.746A>T (p.Gln249Leu) c.176A>T (p.Gln59Leu) c.701A>T (p.Gln234Leu) c.209A>T (p.Gln70Leu) | |
| 2 | g.27367548T>C | CA346199384 | EIF2B4 | c.794A>G (p.Gln265Arg) c.*60A>G (n.*60A>G) c.370A>G c.791A>G (p.Gln264Arg) c.854A>G (p.Gln285Arg) n.2303A>G c.857A>G (p.Gln286Arg) c.785A>G (p.Gln262Arg) c.749A>G (p.Gln250Arg) c.746A>G (p.Gln249Arg) c.176A>G (p.Gln59Arg) c.701A>G (p.Gln234Arg) c.209A>G (p.Gln70Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.27367548T>G | CA346199385 | EIF2B4 | c.794A>C (p.Gln265Pro) c.*60A>C (n.*60A>C) c.370A>C c.791A>C (p.Gln264Pro) c.854A>C (p.Gln285Pro) n.2303A>C c.857A>C (p.Gln286Pro) c.785A>C (p.Gln262Pro) c.749A>C (p.Gln250Pro) c.746A>C (p.Gln249Pro) c.176A>C (p.Gln59Pro) c.701A>C (p.Gln234Pro) c.209A>C (p.Gln70Pro) | |
| 2 | g.27367548T= | CA1240245507 | EIF2B4 | c.794A= (p.Gln265=) c.*60A= (n.*60A=) c.370A= c.791A= (p.Gln264=) c.854A= (p.Gln285=) n.2303A= c.857A= (p.Gln286=) c.785A= (p.Gln262=) c.749A= (p.Gln250=) c.746A= (p.Gln249=) c.176A= (p.Gln59=) c.701A= (p.Gln234=) c.209A= (p.Gln70=) | |
| 2 | g.27367549G>A | CA346199388 | EIF2B4 | c.793C>T (p.Gln265Ter) c.*59C>T (n.*59C>T) c.369C>T c.790C>T (p.Gln264Ter) c.853C>T (p.Gln285Ter) n.2302C>T c.856C>T (p.Gln286Ter) c.784C>T (p.Gln262Ter) c.748C>T (p.Gln250Ter) c.745C>T (p.Gln249Ter) c.175C>T (p.Gln59Ter) c.700C>T (p.Gln234Ter) c.208C>T (p.Gln70Ter) | |
| 2 | g.27367549G>C | CA346199387 | EIF2B4 | c.793C>G (p.Gln265Glu) c.*59C>G (n.*59C>G) c.369C>G c.790C>G (p.Gln264Glu) c.853C>G (p.Gln285Glu) n.2302C>G c.856C>G (p.Gln286Glu) c.784C>G (p.Gln262Glu) c.748C>G (p.Gln250Glu) c.745C>G (p.Gln249Glu) c.175C>G (p.Gln59Glu) c.700C>G (p.Gln234Glu) c.208C>G (p.Gln70Glu) | |
| 2 | g.27367549G>T | CA346199386 | EIF2B4 | c.793C>A (p.Gln265Lys) c.*59C>A (n.*59C>A) c.369C>A c.790C>A (p.Gln264Lys) c.853C>A (p.Gln285Lys) n.2302C>A c.856C>A (p.Gln286Lys) c.784C>A (p.Gln262Lys) c.748C>A (p.Gln250Lys) c.745C>A (p.Gln249Lys) c.175C>A (p.Gln59Lys) c.700C>A (p.Gln234Lys) c.208C>A (p.Gln70Lys) | |
| 2 | g.27367550A>C | CA425410928 | EIF2B4 | c.792T>G (p.Thr264=) c.*58T>G (n.*58T>G) c.368T>G c.789T>G (p.Thr263=) c.852T>G (p.Thr284=) n.2301T>G c.855T>G (p.Thr285=) c.783T>G (p.Thr261=) c.747T>G (p.Thr249=) c.744T>G (p.Thr248=) c.174T>G (p.Thr58=) c.699T>G (p.Thr233=) c.207T>G (p.Thr69=) | gnomAD v4 |
| 2 | g.27367550A>G | CA425410929 | EIF2B4 | c.792T>C (p.Thr264=) c.*58T>C (n.*58T>C) c.368T>C c.789T>C (p.Thr263=) c.852T>C (p.Thr284=) n.2301T>C c.855T>C (p.Thr285=) c.783T>C (p.Thr261=) c.747T>C (p.Thr249=) c.744T>C (p.Thr248=) c.174T>C (p.Thr58=) c.699T>C (p.Thr233=) c.207T>C (p.Thr69=) | |
| 2 | g.27367550A>T | CA425410930 | EIF2B4 | c.792T>A (p.Thr264=) c.*58T>A (n.*58T>A) c.368T>A c.789T>A (p.Thr263=) c.852T>A (p.Thr284=) n.2301T>A c.855T>A (p.Thr285=) c.783T>A (p.Thr261=) c.747T>A (p.Thr249=) c.744T>A (p.Thr248=) c.174T>A (p.Thr58=) c.699T>A (p.Thr233=) c.207T>A (p.Thr69=) | |
| 2 | g.27367552_27367555del | CA2658337606 | EIF2B4 | c.789_792del (p.Thr264SerfsTer?) c.*55_*58del (n.*55_*58del) c.365_368del c.786_789del (p.Thr263SerfsTer?) c.849_852del (p.Thr284SerfsTer?) n.2298_2301del c.852_855del (p.Thr285SerfsTer?) c.780_783del (p.Thr261SerfsTer?) c.744_747del (p.Thr249SerfsTer?) c.741_744del (p.Thr248SerfsTer?) c.171_174del (p.Thr58SerfsTer?) c.696_699del (p.Thr233SerfsTer?) c.204_207del (p.Thr69SerfsTer?) | gnomAD v4 |
| 2 | g.27367551G>A | CA346199389 | EIF2B4 | c.791C>T (p.Thr264Ile) c.*57C>T (n.*57C>T) c.367C>T c.788C>T (p.Thr263Ile) c.851C>T (p.Thr284Ile) n.2300C>T c.854C>T (p.Thr285Ile) c.782C>T (p.Thr261Ile) c.746C>T (p.Thr249Ile) c.743C>T (p.Thr248Ile) c.173C>T (p.Thr58Ile) c.698C>T (p.Thr233Ile) c.206C>T (p.Thr69Ile) | |
| 2 | g.27367551G>C | CA346199390 | EIF2B4 | c.791C>G (p.Thr264Ser) c.*57C>G (n.*57C>G) c.367C>G c.788C>G (p.Thr263Ser) c.851C>G (p.Thr284Ser) n.2300C>G c.854C>G (p.Thr285Ser) c.782C>G (p.Thr261Ser) c.746C>G (p.Thr249Ser) c.743C>G (p.Thr248Ser) c.173C>G (p.Thr58Ser) c.698C>G (p.Thr233Ser) c.206C>G (p.Thr69Ser) | |
| 2 | g.27367551G= | CA1240245510 | EIF2B4 | c.791C= (p.Thr264=) c.*57C= (n.*57C=) c.367C= c.788C= (p.Thr263=) c.851C= (p.Thr284=) n.2300C= c.854C= (p.Thr285=) c.782C= (p.Thr261=) c.746C= (p.Thr249=) c.743C= (p.Thr248=) c.173C= (p.Thr58=) c.698C= (p.Thr233=) c.206C= (p.Thr69=) | |
| 2 | g.27367551G>T | CA1576768 | EIF2B4 | c.791C>A (p.Thr264Asn) c.*57C>A (n.*57C>A) c.367C>A c.788C>A (p.Thr263Asn) c.851C>A (p.Thr284Asn) n.2300C>A c.854C>A (p.Thr285Asn) c.782C>A (p.Thr261Asn) c.746C>A (p.Thr249Asn) c.743C>A (p.Thr248Asn) c.173C>A (p.Thr58Asn) c.698C>A (p.Thr233Asn) c.206C>A (p.Thr69Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.27367552T>A | CA346199391 | EIF2B4 | c.790A>T (p.Thr264Ser) c.*56A>T (n.*56A>T) c.366A>T c.787A>T (p.Thr263Ser) c.850A>T (p.Thr284Ser) n.2299A>T c.853A>T (p.Thr285Ser) c.781A>T (p.Thr261Ser) c.745A>T (p.Thr249Ser) c.742A>T (p.Thr248Ser) c.172A>T (p.Thr58Ser) c.697A>T (p.Thr233Ser) c.205A>T (p.Thr69Ser) | |
| 2 | g.27367552T>C | CA346199392 | EIF2B4 | c.790A>G (p.Thr264Ala) c.*56A>G (n.*56A>G) c.366A>G c.787A>G (p.Thr263Ala) c.850A>G (p.Thr284Ala) n.2299A>G c.853A>G (p.Thr285Ala) c.781A>G (p.Thr261Ala) c.745A>G (p.Thr249Ala) c.742A>G (p.Thr248Ala) c.172A>G (p.Thr58Ala) c.697A>G (p.Thr233Ala) c.205A>G (p.Thr69Ala) | gnomAD v4 |
| 2 | g.27367552T>G | CA346199393 | EIF2B4 | c.790A>C (p.Thr264Pro) c.*56A>C (n.*56A>C) c.366A>C c.787A>C (p.Thr263Pro) c.850A>C (p.Thr284Pro) n.2299A>C c.853A>C (p.Thr285Pro) c.781A>C (p.Thr261Pro) c.745A>C (p.Thr249Pro) c.742A>C (p.Thr248Pro) c.172A>C (p.Thr58Pro) c.697A>C (p.Thr233Pro) c.205A>C (p.Thr69Pro) | |
| 2 | g.27367553C>A | CA425410936 | EIF2B4 | c.789G>T (p.Leu263=) c.*55G>T (n.*55G>T) c.365G>T c.786G>T (p.Leu262=) c.849G>T (p.Leu283=) n.2298G>T c.852G>T (p.Leu284=) c.780G>T (p.Leu260=) c.744G>T (p.Leu248=) c.741G>T (p.Leu247=) c.171G>T (p.Leu57=) c.696G>T (p.Leu232=) c.204G>T (p.Leu68=) | |
| 2 | g.27367553C>G | CA425410937 | EIF2B4 | c.789G>C (p.Leu263=) c.*55G>C (n.*55G>C) c.365G>C c.786G>C (p.Leu262=) c.849G>C (p.Leu283=) n.2298G>C c.852G>C (p.Leu284=) c.780G>C (p.Leu260=) c.744G>C (p.Leu248=) c.741G>C (p.Leu247=) c.171G>C (p.Leu57=) c.696G>C (p.Leu232=) c.204G>C (p.Leu68=) | |
| 2 | g.27367553C>T | CA425410941 | EIF2B4 | c.789G>A (p.Leu263=) c.*55G>A (n.*55G>A) c.365G>A c.786G>A (p.Leu262=) c.849G>A (p.Leu283=) n.2298G>A c.852G>A (p.Leu284=) c.780G>A (p.Leu260=) c.744G>A (p.Leu248=) c.741G>A (p.Leu247=) c.171G>A (p.Leu57=) c.696G>A (p.Leu232=) c.204G>A (p.Leu68=) | gnomAD v4 |
| 2 | g.27367554A>C | CA346199395 | EIF2B4 | c.788T>G (p.Leu263Arg) c.*54T>G (n.*54T>G) c.364T>G c.785T>G (p.Leu262Arg) c.848T>G (p.Leu283Arg) n.2297T>G c.851T>G (p.Leu284Arg) c.779T>G (p.Leu260Arg) c.743T>G (p.Leu248Arg) c.740T>G (p.Leu247Arg) c.170T>G (p.Leu57Arg) c.695T>G (p.Leu232Arg) c.203T>G (p.Leu68Arg) | |
| 2 | g.27367554A>G | CA346199398 | EIF2B4 | c.788T>C (p.Leu263Pro) c.*54T>C (n.*54T>C) c.364T>C c.785T>C (p.Leu262Pro) c.848T>C (p.Leu283Pro) n.2297T>C c.851T>C (p.Leu284Pro) c.779T>C (p.Leu260Pro) c.743T>C (p.Leu248Pro) c.740T>C (p.Leu247Pro) c.170T>C (p.Leu57Pro) c.695T>C (p.Leu232Pro) c.203T>C (p.Leu68Pro) |