Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.27367547C>ACA346199381EIF2B4c.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)
2g.27367547C>GCA346199382EIF2B4c.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)
2g.27367547C>TCA425410921EIF2B4c.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
2g.27367548T>ACA346199383EIF2B4c.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)
2g.27367548T>CCA346199384EIF2B4c.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
2g.27367548T>GCA346199385EIF2B4c.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)
2g.27367548T=CA1240245507EIF2B4c.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=)
2g.27367549G>ACA346199388EIF2B4c.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)
2g.27367549G>CCA346199387EIF2B4c.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)
2g.27367549G>TCA346199386EIF2B4c.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)
2g.27367550A>CCA425410928EIF2B4c.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
2g.27367550A>GCA425410929EIF2B4c.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=)
2g.27367550A>TCA425410930EIF2B4c.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=)
2g.27367552_27367555delCA2658337606EIF2B4c.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
2g.27367551G>ACA346199389EIF2B4c.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)
2g.27367551G>CCA346199390EIF2B4c.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)
2g.27367551G=CA1240245510EIF2B4c.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=)
2g.27367551G>TCA1576768EIF2B4c.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
2g.27367552T>ACA346199391EIF2B4c.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)
2g.27367552T>CCA346199392EIF2B4c.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
2g.27367552T>GCA346199393EIF2B4c.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)
2g.27367553C>ACA425410936EIF2B4c.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=)
2g.27367553C>GCA425410937EIF2B4c.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=)
2g.27367553C>TCA425410941EIF2B4c.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
2g.27367554A>CCA346199395EIF2B4c.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)
2g.27367554A>GCA346199398EIF2B4c.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)
2g.27367554A>TCA346199401EIF2B4c.788T>A (p.Leu263Gln)
c.*54T>A (n.*54T>A)
c.364T>A
c.785T>A (p.Leu262Gln)
c.848T>A (p.Leu283Gln)
n.2297T>A
c.851T>A (p.Leu284Gln)
c.779T>A (p.Leu260Gln)
c.743T>A (p.Leu248Gln)
c.740T>A (p.Leu247Gln)
c.170T>A (p.Leu57Gln)
c.695T>A (p.Leu232Gln)
c.203T>A (p.Leu68Gln)
2g.27367555G>ACA425410944EIF2B4c.787C>T (p.Leu263=)
c.*53C>T (n.*53C>T)
c.363C>T
c.784C>T (p.Leu262=)
c.847C>T (p.Leu283=)
n.2296C>T
c.850C>T (p.Leu284=)
c.778C>T (p.Leu260=)
c.742C>T (p.Leu248=)
c.739C>T (p.Leu247=)
c.169C>T (p.Leu57=)
c.694C>T (p.Leu232=)
c.202C>T (p.Leu68=)
 ClinVar
2g.27367555G>CCA346199403EIF2B4c.787C>G (p.Leu263Val)
c.*53C>G (n.*53C>G)
c.363C>G
c.784C>G (p.Leu262Val)
c.847C>G (p.Leu283Val)
n.2296C>G
c.850C>G (p.Leu284Val)
c.778C>G (p.Leu260Val)
c.742C>G (p.Leu248Val)
c.739C>G (p.Leu247Val)
c.169C>G (p.Leu57Val)
c.694C>G (p.Leu232Val)
c.202C>G (p.Leu68Val)
2g.27367555G>TCA346199405EIF2B4c.787C>A (p.Leu263Met)
c.*53C>A (n.*53C>A)
c.363C>A
c.784C>A (p.Leu262Met)
c.847C>A (p.Leu283Met)
n.2296C>A
c.850C>A (p.Leu284Met)
c.778C>A (p.Leu260Met)
c.742C>A (p.Leu248Met)
c.739C>A (p.Leu247Met)
c.169C>A (p.Leu57Met)
c.694C>A (p.Leu232Met)
c.202C>A (p.Leu68Met)
2g.27367556G>ACA425410945EIF2B4c.786C>T (p.Phe262=)
c.*52C>T (n.*52C>T)
c.362C>T
c.783C>T (p.Phe261=)
c.846C>T (p.Phe282=)
n.2295C>T
c.849C>T (p.Phe283=)
c.777C>T (p.Phe259=)
c.741C>T (p.Phe247=)
c.738C>T (p.Phe246=)
c.168C>T (p.Phe56=)
c.693C>T (p.Phe231=)
c.201C>T (p.Phe67=)
2g.27367556G>CCA346199408EIF2B4c.786C>G (p.Phe262Leu)
c.*52C>G (n.*52C>G)
c.362C>G
c.783C>G (p.Phe261Leu)
c.846C>G (p.Phe282Leu)
n.2295C>G
c.849C>G (p.Phe283Leu)
c.777C>G (p.Phe259Leu)
c.741C>G (p.Phe247Leu)
c.738C>G (p.Phe246Leu)
c.168C>G (p.Phe56Leu)
c.693C>G (p.Phe231Leu)
c.201C>G (p.Phe67Leu)
2g.27367556G>TCA346199410EIF2B4c.786C>A (p.Phe262Leu)
c.*52C>A (n.*52C>A)
c.362C>A
c.783C>A (p.Phe261Leu)
c.846C>A (p.Phe282Leu)
n.2295C>A
c.849C>A (p.Phe283Leu)
c.777C>A (p.Phe259Leu)
c.741C>A (p.Phe247Leu)
c.738C>A (p.Phe246Leu)
c.168C>A (p.Phe56Leu)
c.693C>A (p.Phe231Leu)
c.201C>A (p.Phe67Leu)
2g.27367557A>CCA346199414EIF2B4c.785T>G (p.Phe262Cys)
c.*51T>G (n.*51T>G)
c.361T>G
c.782T>G (p.Phe261Cys)
c.845T>G (p.Phe282Cys)
n.2294T>G
c.848T>G (p.Phe283Cys)
c.776T>G (p.Phe259Cys)
c.740T>G (p.Phe247Cys)
c.737T>G (p.Phe246Cys)
c.167T>G (p.Phe56Cys)
c.692T>G (p.Phe231Cys)
c.200T>G (p.Phe67Cys)
2g.27367557A>GCA346199417EIF2B4c.785T>C (p.Phe262Ser)
c.*51T>C (n.*51T>C)
c.361T>C
c.782T>C (p.Phe261Ser)
c.845T>C (p.Phe282Ser)
n.2294T>C
c.848T>C (p.Phe283Ser)
c.776T>C (p.Phe259Ser)
c.740T>C (p.Phe247Ser)
c.737T>C (p.Phe246Ser)
c.167T>C (p.Phe56Ser)
c.692T>C (p.Phe231Ser)
c.200T>C (p.Phe67Ser)
2g.27367557A>TCA346199411EIF2B4c.785T>A (p.Phe262Tyr)
c.*51T>A (n.*51T>A)
c.361T>A
c.782T>A (p.Phe261Tyr)
c.845T>A (p.Phe282Tyr)
n.2294T>A
c.848T>A (p.Phe283Tyr)
c.776T>A (p.Phe259Tyr)
c.740T>A (p.Phe247Tyr)
c.737T>A (p.Phe246Tyr)
c.167T>A (p.Phe56Tyr)
c.692T>A (p.Phe231Tyr)
c.200T>A (p.Phe67Tyr)
2g.27367558A>CCA346199422EIF2B4c.784T>G (p.Phe262Val)
c.*50T>G (n.*50T>G)
c.360T>G
c.781T>G (p.Phe261Val)
c.844T>G (p.Phe282Val)
n.2293T>G
c.847T>G (p.Phe283Val)
c.775T>G (p.Phe259Val)
c.739T>G (p.Phe247Val)
c.736T>G (p.Phe246Val)
c.166T>G (p.Phe56Val)
c.691T>G (p.Phe231Val)
c.199T>G (p.Phe67Val)
2g.27367558A>GCA346199419EIF2B4c.784T>C (p.Phe262Leu)
c.*50T>C (n.*50T>C)
c.360T>C
c.781T>C (p.Phe261Leu)
c.844T>C (p.Phe282Leu)
n.2293T>C
c.847T>C (p.Phe283Leu)
c.775T>C (p.Phe259Leu)
c.739T>C (p.Phe247Leu)
c.736T>C (p.Phe246Leu)
c.166T>C (p.Phe56Leu)
c.691T>C (p.Phe231Leu)
c.199T>C (p.Phe67Leu)
2g.27367558A>TCA346199425EIF2B4c.784T>A (p.Phe262Ile)
c.*50T>A (n.*50T>A)
c.360T>A
c.781T>A (p.Phe261Ile)
c.844T>A (p.Phe282Ile)
n.2293T>A
c.847T>A (p.Phe283Ile)
c.775T>A (p.Phe259Ile)
c.739T>A (p.Phe247Ile)
c.736T>A (p.Phe246Ile)
c.166T>A (p.Phe56Ile)
c.691T>A (p.Phe231Ile)
c.199T>A (p.Phe67Ile)
2g.27367559G>ACA425410950EIF2B4c.783C>T (p.Ser261=)
c.*49C>T (n.*49C>T)
c.359C>T
c.780C>T (p.Ser260=)
c.843C>T (p.Ser281=)
n.2292C>T
c.846C>T (p.Ser282=)
c.774C>T (p.Ser258=)
c.738C>T (p.Ser246=)
c.735C>T (p.Ser245=)
c.165C>T (p.Ser55=)
c.690C>T (p.Ser230=)
c.198C>T (p.Ser66=)
 dbSNP gnomAD v3 gnomAD v4
2g.27367559G>CCA346199427EIF2B4c.783C>G (p.Ser261Arg)
c.*49C>G (n.*49C>G)
c.359C>G
c.780C>G (p.Ser260Arg)
c.843C>G (p.Ser281Arg)
n.2292C>G
c.846C>G (p.Ser282Arg)
c.774C>G (p.Ser258Arg)
c.738C>G (p.Ser246Arg)
c.735C>G (p.Ser245Arg)
c.165C>G (p.Ser55Arg)
c.690C>G (p.Ser230Arg)
c.198C>G (p.Ser66Arg)
 dbSNP
2g.27367559G=CA1240245518EIF2B4c.783C= (p.Ser261=)
c.*49C= (n.*49C=)
c.359C=
c.780C= (p.Ser260=)
c.843C= (p.Ser281=)
n.2292C=
c.846C= (p.Ser282=)
c.774C= (p.Ser258=)
c.738C= (p.Ser246=)
c.735C= (p.Ser245=)
c.165C= (p.Ser55=)
c.690C= (p.Ser230=)
c.198C= (p.Ser66=)
2g.27367559G>TCA346199428EIF2B4c.783C>A (p.Ser261Arg)
c.*49C>A (n.*49C>A)
c.359C>A
c.780C>A (p.Ser260Arg)
c.843C>A (p.Ser281Arg)
n.2292C>A
c.846C>A (p.Ser282Arg)
c.774C>A (p.Ser258Arg)
c.738C>A (p.Ser246Arg)
c.735C>A (p.Ser245Arg)
c.165C>A (p.Ser55Arg)
c.690C>A (p.Ser230Arg)
c.198C>A (p.Ser66Arg)
2g.27367560C>ACA346199431EIF2B4c.783-1G>T (n.783-1G>T)
c.*49-1G>T (n.*49-1G>T)
c.359-1G>T
c.780-1G>T (n.780-1G>T)
c.843-1G>T (n.843-1G>T)
n.2291G>T
c.846-1G>T (n.846-1G>T)
c.774-1G>T (n.774-1G>T)
c.738-1G>T (n.738-1G>T)
c.735-1G>T (n.735-1G>T)
c.165-1G>T (n.165-1G>T)
c.690-1G>T (n.690-1G>T)
c.198-1G>T (n.198-1G>T)
2g.27367560C=CA1240245521EIF2B4c.783-1G= (n.783-1G=)
c.*49-1G= (n.*49-1G=)
c.359-1G=
c.780-1G= (n.780-1G=)
c.843-1G= (n.843-1G=)
n.2291G=
c.846-1G= (n.846-1G=)
c.774-1G= (n.774-1G=)
c.738-1G= (n.738-1G=)
c.735-1G= (n.735-1G=)
c.165-1G= (n.165-1G=)
c.690-1G= (n.690-1G=)
c.198-1G= (n.198-1G=)
2g.27367560C>GCA346199434EIF2B4c.783-1G>C (n.783-1G>C)
c.*49-1G>C (n.*49-1G>C)
c.359-1G>C
c.780-1G>C (n.780-1G>C)
c.843-1G>C (n.843-1G>C)
n.2291G>C
c.846-1G>C (n.846-1G>C)
c.774-1G>C (n.774-1G>C)
c.738-1G>C (n.738-1G>C)
c.735-1G>C (n.735-1G>C)
c.165-1G>C (n.165-1G>C)
c.690-1G>C (n.690-1G>C)
c.198-1G>C (n.198-1G>C)
2g.27367560C>TCA346199437EIF2B4c.783-1G>A (n.783-1G>A)
c.*49-1G>A (n.*49-1G>A)
c.359-1G>A
c.780-1G>A (n.780-1G>A)
c.843-1G>A (n.843-1G>A)
n.2291G>A
c.846-1G>A (n.846-1G>A)
c.774-1G>A (n.774-1G>A)
c.738-1G>A (n.738-1G>A)
c.735-1G>A (n.735-1G>A)
c.165-1G>A (n.165-1G>A)
c.690-1G>A (n.690-1G>A)
c.198-1G>A (n.198-1G>A)
2g.27367561T>ACA346199439EIF2B4c.783-2A>T (n.783-2A>T)
c.*49-2A>T (n.*49-2A>T)
c.359-2A>T
c.780-2A>T (n.780-2A>T)
c.843-2A>T (n.843-2A>T)
n.2290A>T
c.846-2A>T (n.846-2A>T)
c.774-2A>T (n.774-2A>T)
c.738-2A>T (n.738-2A>T)
c.735-2A>T (n.735-2A>T)
c.165-2A>T (n.165-2A>T)
c.690-2A>T (n.690-2A>T)
c.198-2A>T (n.198-2A>T)
2g.27367561T>CCA346199442EIF2B4c.783-2A>G (n.783-2A>G)
c.*49-2A>G (n.*49-2A>G)
c.359-2A>G
c.780-2A>G (n.780-2A>G)
c.843-2A>G (n.843-2A>G)
n.2290A>G
c.846-2A>G (n.846-2A>G)
c.774-2A>G (n.774-2A>G)
c.738-2A>G (n.738-2A>G)
c.735-2A>G (n.735-2A>G)
c.165-2A>G (n.165-2A>G)
c.690-2A>G (n.690-2A>G)
c.198-2A>G (n.198-2A>G)
 gnomAD v4
2g.27367561T>GCA346199445EIF2B4c.783-2A>C (n.783-2A>C)
c.*49-2A>C (n.*49-2A>C)
c.359-2A>C
c.780-2A>C (n.780-2A>C)
c.843-2A>C (n.843-2A>C)
n.2290A>C
c.846-2A>C (n.846-2A>C)
c.774-2A>C (n.774-2A>C)
c.738-2A>C (n.738-2A>C)
c.735-2A>C (n.735-2A>C)
c.165-2A>C (n.165-2A>C)
c.690-2A>C (n.690-2A>C)
c.198-2A>C (n.198-2A>C)

Number of alleles fetched