Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.12663707G>ACA505625676MAN2B1c.759C>T (p.Phe253=)
n.741C>T
c.462C>T (p.Phe154=)
c.-260C>T (n.-260C>T)
19g.12663707G>CCA404252522MAN2B1c.759C>G (p.Phe253Leu)
n.741C>G
c.462C>G (p.Phe154Leu)
c.-260C>G (n.-260C>G)
19g.12663707G>TCA404252525MAN2B1c.759C>A (p.Phe253Leu)
n.741C>A
c.462C>A (p.Phe154Leu)
c.-260C>A (n.-260C>A)
19g.12663708A>CCA404252528MAN2B1c.758T>G (p.Phe253Cys)
n.740T>G
c.461T>G (p.Phe154Cys)
c.-261T>G (n.-261T>G)
19g.12663708A>GCA404252531MAN2B1c.758T>C (p.Phe253Ser)
n.740T>C
c.461T>C (p.Phe154Ser)
c.-261T>C (n.-261T>C)
19g.12663708A>TCA404252532MAN2B1c.758T>A (p.Phe253Tyr)
n.740T>A
c.461T>A (p.Phe154Tyr)
c.-261T>A (n.-261T>A)
19g.12663709A>CCA404252536MAN2B1c.757T>G (p.Phe253Val)
n.739T>G
c.460T>G (p.Phe154Val)
c.-262T>G (n.-262T>G)
19g.12663709A>GCA404252538MAN2B1c.757T>C (p.Phe253Leu)
n.739T>C
c.460T>C (p.Phe154Leu)
c.-262T>C (n.-262T>C)
19g.12663709A>TCA404252541MAN2B1c.757T>A (p.Phe253Ile)
n.739T>A
c.460T>A (p.Phe154Ile)
c.-262T>A (n.-262T>A)
19g.12663710G>ACA505625677MAN2B1c.756C>T (p.Leu252=)
n.738C>T
c.459C>T (p.Leu153=)
c.-263C>T (n.-263C>T)
19g.12663710G>CCA505625678MAN2B1c.756C>G (p.Leu252=)
n.738C>G
c.459C>G (p.Leu153=)
c.-263C>G (n.-263C>G)
19g.12663710G>TCA505625679MAN2B1c.756C>A (p.Leu252=)
n.738C>A
c.459C>A (p.Leu153=)
c.-263C>A (n.-263C>A)
19g.12663711A>CCA404252545MAN2B1c.755T>G (p.Leu252Arg)
n.737T>G
c.458T>G (p.Leu153Arg)
c.-264T>G (n.-264T>G)
19g.12663711A>GCA404252548MAN2B1c.755T>C (p.Leu252Pro)
n.737T>C
c.458T>C (p.Leu153Pro)
c.-264T>C (n.-264T>C)
19g.12663711A>TCA404252549MAN2B1c.755T>A (p.Leu252His)
n.737T>A
c.458T>A (p.Leu153His)
c.-264T>A (n.-264T>A)
19g.12663712G>ACA404252553MAN2B1c.754C>T (p.Leu252Phe)
n.736C>T
c.457C>T (p.Leu153Phe)
c.-265C>T (n.-265C>T)
19g.12663712G>CCA404252557MAN2B1c.754C>G (p.Leu252Val)
n.736C>G
c.457C>G (p.Leu153Val)
c.-265C>G (n.-265C>G)
 dbSNP gnomAD v3 gnomAD v4
19g.12663712G=CA2323506876MAN2B1c.754C= (p.Leu252=)
n.736C=
c.457C= (p.Leu153=)
c.-265C= (n.-265C=)
19g.12663712G>TCA404252554MAN2B1c.754C>A (p.Leu252Ile)
n.736C>A
c.457C>A (p.Leu153Ile)
c.-265C>A (n.-265C>A)
19g.12663713G>ACA505625680MAN2B1c.753C>T (p.Asp251=)
n.735C>T
c.456C>T (p.Asp152=)
c.-266C>T (n.-266C>T)
19g.12663713G>CCA404252560MAN2B1c.753C>G (p.Asp251Glu)
n.735C>G
c.456C>G (p.Asp152Glu)
c.-266C>G (n.-266C>G)
19g.12663713G>TCA404252563MAN2B1c.753C>A (p.Asp251Glu)
n.735C>A
c.456C>A (p.Asp152Glu)
c.-266C>A (n.-266C>A)
19g.12663714T>ACA9226722MAN2B1c.752A>T (p.Asp251Val)
n.734A>T
c.455A>T (p.Asp152Val)
c.-267A>T (n.-267A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12663714T>CCA9226723MAN2B1c.752A>G (p.Asp251Gly)
n.734A>G
c.455A>G (p.Asp152Gly)
c.-267A>G (n.-267A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.12663714T>GCA404252568MAN2B1c.752A>C (p.Asp251Ala)
n.734A>C
c.455A>C (p.Asp152Ala)
c.-267A>C (n.-267A>C)
19g.12663714T=CA2323506877MAN2B1c.752A= (p.Asp251=)
n.734A=
c.455A= (p.Asp152=)
c.-267A= (n.-267A=)
19g.12663715C>ACA404252571MAN2B1c.751G>T (p.Asp251Tyr)
n.733G>T
c.454G>T (p.Asp152Tyr)
c.-268G>T (n.-268G>T)
19g.12663715C=CA2323506878MAN2B1c.751G= (p.Asp251=)
n.733G=
c.454G= (p.Asp152=)
c.-268G= (n.-268G=)
19g.12663715C>GCA404252573MAN2B1c.751G>C (p.Asp251His)
n.733G>C
c.454G>C (p.Asp152His)
c.-268G>C (n.-268G>C)
19g.12663715C>TCA305477903MAN2B1c.751G>A (p.Asp251Asn)
n.733G>A
c.454G>A (p.Asp152Asn)
c.-268G>A (n.-268G>A)
 dbSNP
19g.12663716C>ACA505625681MAN2B1c.750G>T (p.Ala250=)
n.732G>T
c.453G>T (p.Ala151=)
c.-269G>T (n.-269G>T)
19g.12663716C=CA2323506879MAN2B1c.750G= (p.Ala250=)
n.732G=
c.453G= (p.Ala151=)
c.-269G= (n.-269G=)
19g.12663716C>GCA505625682MAN2B1c.750G>C (p.Ala250=)
n.732G>C
c.453G>C (p.Ala151=)
c.-269G>C (n.-269G>C)
19g.12663716C>TCA9226724MAN2B1c.750G>A (p.Ala250=)
n.732G>A
c.453G>A (p.Ala151=)
c.-269G>A (n.-269G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.12663717G>ACA9226725MAN2B1c.749C>T (p.Ala250Val)
n.731C>T
c.452C>T (p.Ala151Val)
c.-270C>T (n.-270C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12663717G>CCA404252580MAN2B1c.749C>G (p.Ala250Gly)
n.731C>G
c.452C>G (p.Ala151Gly)
c.-270C>G (n.-270C>G)
19g.12663717G=CA2323506880MAN2B1c.749C= (p.Ala250=)
n.731C=
c.452C= (p.Ala151=)
c.-270C= (n.-270C=)
19g.12663717G>TCA404252582MAN2B1c.749C>A (p.Ala250Glu)
n.731C>A
c.452C>A (p.Ala151Glu)
c.-270C>A (n.-270C>A)
 dbSNP gnomAD v2
19g.12663718C>ACA9226726MAN2B1c.748G>T (p.Ala250Ser)
n.730G>T
c.451G>T (p.Ala151Ser)
c.-271G>T (n.-271G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.12663718C=CA2323506881MAN2B1c.748G= (p.Ala250=)
n.730G=
c.451G= (p.Ala151=)
c.-271G= (n.-271G=)
19g.12663718C>GCA404252585MAN2B1c.748G>C (p.Ala250Pro)
n.730G>C
c.451G>C (p.Ala151Pro)
c.-271G>C (n.-271G>C)
19g.12663718C>TCA9226727MAN2B1c.748G>A (p.Ala250Thr)
n.730G>A
c.451G>A (p.Ala151Thr)
c.-271G>A (n.-271G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12663719G>ACA203021MAN2B1c.747C>T (p.Thr249=)
n.729C>T
c.450C>T (p.Thr150=)
c.-272C>T (n.-272C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12663719G>CCA505625683MAN2B1c.747C>G (p.Thr249=)
n.729C>G
c.450C>G (p.Thr150=)
c.-272C>G (n.-272C>G)
19g.12663719G=CA2323506882MAN2B1c.747C= (p.Thr249=)
n.729C=
c.450C= (p.Thr150=)
c.-272C= (n.-272C=)
19g.12663719G>TCA505625684MAN2B1c.747C>A (p.Thr249=)
n.729C>A
c.450C>A (p.Thr150=)
c.-272C>A (n.-272C>A)
19g.12663720G>ACA404252591MAN2B1c.746C>T (p.Thr249Ile)
n.728C>T
c.449C>T (p.Thr150Ile)
c.-273C>T (n.-273C>T)
 gnomAD v4
19g.12663720G>CCA404252592MAN2B1c.746C>G (p.Thr249Ser)
n.728C>G
c.449C>G (p.Thr150Ser)
c.-273C>G (n.-273C>G)
19g.12663720G>TCA404252595MAN2B1c.746C>A (p.Thr249Asn)
n.728C>A
c.449C>A (p.Thr150Asn)
c.-273C>A (n.-273C>A)
 gnomAD v4
19g.12663721T>ACA404252599MAN2B1c.745A>T (p.Thr249Ser)
n.727A>T
c.448A>T (p.Thr150Ser)
c.-274A>T (n.-274A>T)
19g.12663721T>CCA404252601MAN2B1c.745A>G (p.Thr249Ala)
n.727A>G
c.448A>G (p.Thr150Ala)
c.-274A>G (n.-274A>G)
19g.12663721T>GCA404252602MAN2B1c.745A>C (p.Thr249Pro)
n.727A>C
c.448A>C (p.Thr150Pro)
c.-274A>C (n.-274A>C)
19g.12663722C>ACA505625685MAN2B1c.744G>T (p.Pro248=)
n.726G>T
c.447G>T (p.Pro149=)
c.-275G>T (n.-275G>T)
19g.12663722C=CA2323506883MAN2B1c.744G= (p.Pro248=)
n.726G=
c.447G= (p.Pro149=)
c.-275G= (n.-275G=)
19g.12663722C>GCA505625686MAN2B1c.744G>C (p.Pro248=)
n.726G>C
c.447G>C (p.Pro149=)
c.-275G>C (n.-275G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.12663722C>TCA9226728MAN2B1c.744G>A (p.Pro248=)
n.726G>A
c.447G>A (p.Pro149=)
c.-275G>A (n.-275G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12663723G>ACA203023MAN2B1c.743C>T (p.Pro248Leu)
n.725C>T
c.446C>T (p.Pro149Leu)
c.-276C>T (n.-276C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.12663723G>CCA404252606MAN2B1c.743C>G (p.Pro248Arg)
n.725C>G
c.446C>G (p.Pro149Arg)
c.-276C>G (n.-276C>G)
 ClinVar dbSNP
19g.12663723G=CA2323506884MAN2B1c.743C= (p.Pro248=)
n.725C=
c.446C= (p.Pro149=)
c.-276C= (n.-276C=)
19g.12663723G>TCA404252607MAN2B1c.743C>A (p.Pro248Gln)
n.725C>A
c.446C>A (p.Pro149Gln)
c.-276C>A (n.-276C>A)
19g.12663727delCA2582722135MAN2B1c.743del (p.Pro248ArgfsTer?)
n.725del
c.446del (p.Pro149ArgfsTer?)
c.-276del (n.-276del)
 gnomAD v4
19g.12663724G>ACA404252613MAN2B1c.742C>T (p.Pro248Ser)
n.724C>T
c.445C>T (p.Pro149Ser)
c.-277C>T (n.-277C>T)
 COSMIC
19g.12663724G>CCA404252611MAN2B1c.742C>G (p.Pro248Ala)
n.724C>G
c.445C>G (p.Pro149Ala)
c.-277C>G (n.-277C>G)
19g.12663724G>TCA404252609MAN2B1c.742C>A (p.Pro248Thr)
n.724C>A
c.445C>A (p.Pro149Thr)
c.-277C>A (n.-277C>A)
19g.12663725G>ACA505625689MAN2B1c.741C>T (p.Pro247=)
n.723C>T
c.444C>T (p.Pro148=)
c.-278C>T (n.-278C>T)
 gnomAD v4
19g.12663725G>CCA505625687MAN2B1c.741C>G (p.Pro247=)
n.723C>G
c.444C>G (p.Pro148=)
c.-278C>G (n.-278C>G)
19g.12663725G>TCA505625688MAN2B1c.741C>A (p.Pro247=)
n.723C>A
c.444C>A (p.Pro148=)
c.-278C>A (n.-278C>A)
19g.12663726G>ACA404252614MAN2B1c.740C>T (p.Pro247Leu)
n.722C>T
c.443C>T (p.Pro148Leu)
c.-279C>T (n.-279C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.12663726G>CCA404252615MAN2B1c.740C>G (p.Pro247Arg)
n.722C>G
c.443C>G (p.Pro148Arg)
c.-279C>G (n.-279C>G)
19g.12663726G=CA2323506885MAN2B1c.740C= (p.Pro247=)
n.722C=
c.443C= (p.Pro148=)
c.-279C= (n.-279C=)
19g.12663726G>TCA404252617MAN2B1c.740C>A (p.Pro247His)
n.722C>A
c.443C>A (p.Pro148His)
c.-279C>A (n.-279C>A)
 dbSNP gnomAD v4
19g.12663726_12663727insATCTTTACA2580096568MAN2B1c.739_740insTAAAGAT (p.Pro247LeufsTer?)
n.721_722insTAAAGAT
c.442_443insTAAAGAT (p.Pro148LeufsTer?)
c.-280_-279insTAAAGAT (n.-280_-279insTAAAGAT)
 ClinVar
19g.12663727G>ACA9226729MAN2B1c.739C>T (p.Pro247Ser)
n.721C>T
c.442C>T (p.Pro148Ser)
c.-280C>T (n.-280C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12663727G>CCA404252620MAN2B1c.739C>G (p.Pro247Ala)
n.721C>G
c.442C>G (p.Pro148Ala)
c.-280C>G (n.-280C>G)
19g.12663727G=CA2323506886MAN2B1c.739C= (p.Pro247=)
n.721C=
c.442C= (p.Pro148=)
c.-280C= (n.-280C=)
19g.12663727G>TCA404252621MAN2B1c.739C>A (p.Pro247Thr)
n.721C>A
c.442C>A (p.Pro148Thr)
c.-280C>A (n.-280C>A)
 gnomAD v4
19g.12663728C>ACA404252625MAN2B1c.738G>T (p.Lys246Asn)
n.720G>T
c.441G>T (p.Lys147Asn)
c.-281G>T (n.-281G>T)
19g.12663728C>GCA404252623MAN2B1c.738G>C (p.Lys246Asn)
n.720G>C
c.441G>C (p.Lys147Asn)
c.-281G>C (n.-281G>C)
19g.12663728C>TCA505625690MAN2B1c.738G>A (p.Lys246=)
n.720G>A
c.441G>A (p.Lys147=)
c.-281G>A (n.-281G>A)
19g.12663729T>ACA404252628MAN2B1c.737A>T (p.Lys246Met)
n.719A>T
c.440A>T (p.Lys147Met)
c.-282A>T (n.-282A>T)
19g.12663729T>CCA404252629MAN2B1c.737A>G (p.Lys246Arg)
n.719A>G
c.440A>G (p.Lys147Arg)
c.-282A>G (n.-282A>G)
19g.12663729T>GCA404252631MAN2B1c.737A>C (p.Lys246Thr)
n.719A>C
c.440A>C (p.Lys147Thr)
c.-282A>C (n.-282A>C)
19g.12663730T>ACA404252634MAN2B1c.736A>T (p.Lys246Ter)
n.718A>T
c.439A>T (p.Lys147Ter)
c.-283A>T (n.-283A>T)
19g.12663730T>CCA404252636MAN2B1c.736A>G (p.Lys246Glu)
n.718A>G
c.439A>G (p.Lys147Glu)
c.-283A>G (n.-283A>G)
19g.12663730T>GCA404252638MAN2B1c.736A>C (p.Lys246Gln)
n.718A>C
c.439A>C (p.Lys147Gln)
c.-283A>C (n.-283A>C)
19g.12663731C>ACA505625691MAN2B1c.735G>T (p.Leu245=)
n.717G>T
c.438G>T (p.Leu146=)
c.-284G>T (n.-284G>T)
19g.12663731C>GCA505625692MAN2B1c.735G>C (p.Leu245=)
n.717G>C
c.438G>C (p.Leu146=)
c.-284G>C (n.-284G>C)
19g.12663731C>TCA505625693MAN2B1c.735G>A (p.Leu245=)
n.717G>A
c.438G>A (p.Leu146=)
c.-284G>A (n.-284G>A)
19g.12663732A=CA2323506887MAN2B1c.734T= (p.Leu245=)
n.716T=
c.437T= (p.Leu146=)
c.-285T= (n.-285T=)
19g.12663732A>CCA404252645MAN2B1c.734T>G (p.Leu245Arg)
n.716T>G
c.437T>G (p.Leu146Arg)
c.-285T>G (n.-285T>G)
 gnomAD v4
19g.12663732A>GCA404252642MAN2B1c.734T>C (p.Leu245Pro)
n.716T>C
c.437T>C (p.Leu146Pro)
c.-285T>C (n.-285T>C)
19g.12663732A>TCA9226730MAN2B1c.734T>A (p.Leu245Gln)
n.716T>A
c.437T>A (p.Leu146Gln)
c.-285T>A (n.-285T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.12663733G>ACA505625694MAN2B1c.733C>T (p.Leu245=)
n.715C>T
c.436C>T (p.Leu146=)
c.-286C>T (n.-286C>T)
19g.12663733G>CCA404252648MAN2B1c.733C>G (p.Leu245Val)
n.715C>G
c.436C>G (p.Leu146Val)
c.-286C>G (n.-286C>G)
19g.12663733G>TCA404252649MAN2B1c.733C>A (p.Leu245Met)
n.715C>A
c.436C>A (p.Leu146Met)
c.-286C>A (n.-286C>A)
19g.12663734G>ACA505625695MAN2B1c.732C>T (p.Ser244=)
n.714C>T
c.435C>T (p.Ser145=)
c.-287C>T (n.-287C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.12663734G>CCA404252650MAN2B1c.732C>G (p.Ser244Arg)
n.714C>G
c.435C>G (p.Ser145Arg)
c.-287C>G (n.-287C>G)
 gnomAD v4
19g.12663734G=CA2323506888MAN2B1c.732C= (p.Ser244=)
n.714C=
c.435C= (p.Ser145=)
c.-287C= (n.-287C=)
19g.12663734G>TCA404252651MAN2B1c.732C>A (p.Ser244Arg)
n.714C>A
c.435C>A (p.Ser145Arg)
c.-287C>A (n.-287C>A)
19g.12663735C>ACA404252652MAN2B1c.731G>T (p.Ser244Ile)
n.713G>T
c.434G>T (p.Ser145Ile)
c.-288G>T (n.-288G>T)
 gnomAD v4
19g.12663735C>GCA404252654MAN2B1c.731G>C (p.Ser244Thr)
n.713G>C
c.434G>C (p.Ser145Thr)
c.-288G>C (n.-288G>C)
19g.12663735C>TCA404252655MAN2B1c.731G>A (p.Ser244Asn)
n.713G>A
c.434G>A (p.Ser145Asn)
c.-288G>A (n.-288G>A)
19g.12663736T>ACA404252657MAN2B1c.730A>T (p.Ser244Cys)
n.712A>T
c.433A>T (p.Ser145Cys)
c.-289A>T (n.-289A>T)
19g.12663736T>CCA404252660MAN2B1c.730A>G (p.Ser244Gly)
n.712A>G
c.433A>G (p.Ser145Gly)
c.-289A>G (n.-289A>G)
19g.12663736T>GCA404252662MAN2B1c.730A>C (p.Ser244Arg)
n.712A>C
c.433A>C (p.Ser145Arg)
c.-289A>C (n.-289A>C)
19g.12663736T=CA2323506889MAN2B1c.730A= (p.Ser244=)
n.712A=
c.433A= (p.Ser145=)
c.-289A= (n.-289A=)
19g.12663736_12663737insAACA891863000MAN2B1c.729_730insTT (p.Ser244LeufsTer3)
n.711_712insTT
c.432_433insTT (p.Ser145LeufsTer3)
c.-290_-289insTT (n.-290_-289insTT)
 ClinVar dbSNP
19g.12663737G>ACA505625696MAN2B1c.729C>T (p.Thr243=)
n.711C>T
c.432C>T (p.Thr144=)
c.-290C>T (n.-290C>T)
 ClinVar dbSNP COSMIC
19g.12663737G>CCA505625697MAN2B1c.729C>G (p.Thr243=)
n.711C>G
c.432C>G (p.Thr144=)
c.-290C>G (n.-290C>G)
19g.12663737G>TCA505625698MAN2B1c.729C>A (p.Thr243=)
n.711C>A
c.432C>A (p.Thr144=)
c.-290C>A (n.-290C>A)
19g.12663738G>ACA404252664MAN2B1c.728C>T (p.Thr243Ile)
n.710C>T
c.431C>T (p.Thr144Ile)
c.-291C>T (n.-291C>T)
 gnomAD v4
19g.12663738G>CCA404252667MAN2B1c.728C>G (p.Thr243Ser)
n.710C>G
c.431C>G (p.Thr144Ser)
c.-291C>G (n.-291C>G)
19g.12663738G>TCA404252668MAN2B1c.728C>A (p.Thr243Asn)
n.710C>A
c.431C>A (p.Thr144Asn)
c.-291C>A (n.-291C>A)
19g.12663738_12663739delinsGTCA2323506890MAN2B1c.727_728delinsAC (p.Thr243=)
n.709_710delinsAC
c.430_431delinsAC (p.Thr144=)
c.-292_-291delinsAC (n.-292_-291delinsAC)
19g.12663739delCA783353195MAN2B1c.727del (p.Thr243ProfsTer3)
n.709del
c.430del (p.Thr144ProfsTer3)
c.-292del (n.-292del)
 dbSNP gnomAD v3 gnomAD v4
19g.12663739T>ACA404252674MAN2B1c.727A>T (p.Thr243Ser)
n.709A>T
c.430A>T (p.Thr144Ser)
c.-292A>T (n.-292A>T)
19g.12663739T>CCA404252670MAN2B1c.727A>G (p.Thr243Ala)
n.709A>G
c.430A>G (p.Thr144Ala)
c.-292A>G (n.-292A>G)
 gnomAD v4
19g.12663739T>GCA404252672MAN2B1c.727A>C (p.Thr243Pro)
n.709A>C
c.430A>C (p.Thr144Pro)
c.-292A>C (n.-292A>C)
19g.12663740G>ACA505625699MAN2B1c.726C>T (p.Ser242=)
n.708C>T
c.429C>T (p.Ser143=)
c.-293C>T (n.-293C>T)
19g.12663740G>CCA404252676MAN2B1c.726C>G (p.Ser242Arg)
n.708C>G
c.429C>G (p.Ser143Arg)
c.-293C>G (n.-293C>G)
19g.12663740G>TCA404252677MAN2B1c.726C>A (p.Ser242Arg)
n.708C>A
c.429C>A (p.Ser143Arg)
c.-293C>A (n.-293C>A)
19g.12663741C>ACA404252680MAN2B1c.725G>T (p.Ser242Ile)
n.707G>T
c.428G>T (p.Ser143Ile)
c.-294G>T (n.-294G>T)
19g.12663741C>GCA404252683MAN2B1c.725G>C (p.Ser242Thr)
n.707G>C
c.428G>C (p.Ser143Thr)
c.-294G>C (n.-294G>C)
19g.12663741C>TCA404252685MAN2B1c.725G>A (p.Ser242Asn)
n.707G>A
c.428G>A (p.Ser143Asn)
c.-294G>A (n.-294G>A)
19g.12663742T>ACA404252692MAN2B1c.724A>T (p.Ser242Cys)
n.706A>T
c.427A>T (p.Ser143Cys)
c.-295A>T (n.-295A>T)
19g.12663742T>CCA404252690MAN2B1c.724A>G (p.Ser242Gly)
n.706A>G
c.427A>G (p.Ser143Gly)
c.-295A>G (n.-295A>G)
19g.12663742T>GCA404252688MAN2B1c.724A>C (p.Ser242Arg)
n.706A>C
c.427A>C (p.Ser143Arg)
c.-295A>C (n.-295A>C)
19g.12663743G>ACA505625702MAN2B1c.723C>T (p.Ala241=)
n.705C>T
c.426C>T (p.Ala142=)
c.-296C>T (n.-296C>T)
 gnomAD v4
19g.12663743G>CCA505625701MAN2B1c.723C>G (p.Ala241=)
n.705C>G
c.426C>G (p.Ala142=)
c.-296C>G (n.-296C>G)
19g.12663743G>TCA505625700MAN2B1c.723C>A (p.Ala241=)
n.705C>A
c.426C>A (p.Ala142=)
c.-296C>A (n.-296C>A)
19g.12663744G>ACA404252695MAN2B1c.722C>T (p.Ala241Val)
n.704C>T
c.425C>T (p.Ala142Val)
c.-297C>T (n.-297C>T)
19g.12663744G>CCA404252698MAN2B1c.722C>G (p.Ala241Gly)
n.704C>G
c.425C>G (p.Ala142Gly)
c.-297C>G (n.-297C>G)
 gnomAD v4
19g.12663744G>TCA404252700MAN2B1c.722C>A (p.Ala241Asp)
n.704C>A
c.425C>A (p.Ala142Asp)
c.-297C>A (n.-297C>A)
19g.12663745C>ACA404252704MAN2B1c.721G>T (p.Ala241Ser)
n.703G>T
c.424G>T (p.Ala142Ser)
c.-298G>T (n.-298G>T)
 gnomAD v4
19g.12663745C>GCA404252705MAN2B1c.721G>C (p.Ala241Pro)
n.703G>C
c.424G>C (p.Ala142Pro)
c.-298G>C (n.-298G>C)
19g.12663745C>TCA404252708MAN2B1c.721G>A (p.Ala241Thr)
n.703G>A
c.424G>A (p.Ala142Thr)
c.-298G>A (n.-298G>A)
19g.12663746C>ACA505625703MAN2B1c.720G>T (p.Arg240=)
n.702G>T
c.423G>T (p.Arg141=)
c.-299G>T (n.-299G>T)
19g.12663746C=CA2323506891MAN2B1c.720G= (p.Arg240=)
n.702G=
c.423G= (p.Arg141=)
c.-299G= (n.-299G=)
19g.12663746C>GCA505625704MAN2B1c.720G>C (p.Arg240=)
n.702G>C
c.423G>C (p.Arg141=)
c.-299G>C (n.-299G>C)
19g.12663746C>TCA505625705MAN2B1c.720G>A (p.Arg240=)
n.702G>A
c.423G>A (p.Arg141=)
c.-299G>A (n.-299G>A)
 dbSNP
19g.12663747C>ACA404252711MAN2B1c.719G>T (p.Arg240Leu)
n.701G>T
c.422G>T (p.Arg141Leu)
c.-300G>T (n.-300G>T)
19g.12663747C=CA2323506892MAN2B1c.719G= (p.Arg240=)
n.701G=
c.422G= (p.Arg141=)
c.-300G= (n.-300G=)
19g.12663747C>GCA404252713MAN2B1c.719G>C (p.Arg240Pro)
n.701G>C
c.422G>C (p.Arg141Pro)
c.-300G>C (n.-300G>C)
19g.12663747C>TCA9226731MAN2B1c.719G>A (p.Arg240Gln)
n.701G>A
c.422G>A (p.Arg141Gln)
c.-300G>A (n.-300G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.12663748G>ACA9226732MAN2B1c.718C>T (p.Arg240Trp)
n.700C>T
c.421C>T (p.Arg141Trp)
c.-301C>T (n.-301C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12663748G>CCA404252717MAN2B1c.718C>G (p.Arg240Gly)
n.700C>G
c.421C>G (p.Arg141Gly)
c.-301C>G (n.-301C>G)
 gnomAD v4
19g.12663748G=CA2323506893MAN2B1c.718C= (p.Arg240=)
n.700C=
c.421C= (p.Arg141=)
c.-301C= (n.-301C=)
19g.12663748G>TCA505625706MAN2B1c.718C>A (p.Arg240=)
n.700C>A
c.421C>A (p.Arg141=)
c.-301C>A (n.-301C>A)
19g.12663749C>ACA404252719MAN2B1c.717G>T (p.Trp239Cys)
n.699G>T
c.420G>T (p.Trp140Cys)
c.-302G>T (n.-302G>T)
19g.12663749C>GCA404252721MAN2B1c.717G>C (p.Trp239Cys)
n.699G>C
c.420G>C (p.Trp140Cys)
c.-302G>C (n.-302G>C)
19g.12663749C>TCA404252723MAN2B1c.717G>A (p.Trp239Ter)
n.699G>A
c.420G>A (p.Trp140Ter)
c.-302G>A (n.-302G>A)
19g.12663750C>ACA404252724MAN2B1c.716G>T (p.Trp239Leu)
n.698G>T
c.419G>T (p.Trp140Leu)
c.-303G>T (n.-303G>T)
19g.12663750C>GCA404252727MAN2B1c.716G>C (p.Trp239Ser)
n.698G>C
c.419G>C (p.Trp140Ser)
c.-303G>C (n.-303G>C)
19g.12663750C>TCA404252728MAN2B1c.716G>A (p.Trp239Ter)
n.698G>A
c.419G>A (p.Trp140Ter)
c.-303G>A (n.-303G>A)
19g.12663751A=CA2323506894MAN2B1c.715T= (p.Trp239=)
n.697T=
c.418T= (p.Trp140=)
c.-304T= (n.-304T=)
19g.12663751A>CCA404252731MAN2B1c.715T>G (p.Trp239Gly)
n.697T>G
c.418T>G (p.Trp140Gly)
c.-304T>G (n.-304T>G)
 dbSNP
19g.12663751A>GCA404252733MAN2B1c.715T>C (p.Trp239Arg)
n.697T>C
c.418T>C (p.Trp140Arg)
c.-304T>C (n.-304T>C)
19g.12663751A>TCA404252736MAN2B1c.715T>A (p.Trp239Arg)
n.697T>A
c.418T>A (p.Trp140Arg)
c.-304T>A (n.-304T>A)
19g.12663752C>ACA505625707MAN2B1c.714G>T (p.Val238=)
n.696G>T
c.417G>T (p.Val139=)
c.-305G>T (n.-305G>T)
19g.12663752C>GCA505625708MAN2B1c.714G>C (p.Val238=)
n.696G>C
c.417G>C (p.Val139=)
c.-305G>C (n.-305G>C)
19g.12663752C>TCA505625709MAN2B1c.714G>A (p.Val238=)
n.696G>A
c.417G>A (p.Val139=)
c.-305G>A (n.-305G>A)
19g.12663753A>CCA404252743MAN2B1c.713T>G (p.Val238Gly)
n.695T>G
c.416T>G (p.Val139Gly)
c.-306T>G (n.-306T>G)
19g.12663753A>GCA404252739MAN2B1c.713T>C (p.Val238Ala)
n.695T>C
c.416T>C (p.Val139Ala)
c.-306T>C (n.-306T>C)
19g.12663753A>TCA404252741MAN2B1c.713T>A (p.Val238Glu)
n.695T>A
c.416T>A (p.Val139Glu)
c.-306T>A (n.-306T>A)
19g.12663754C>ACA404252746MAN2B1c.712G>T (p.Val238Leu)
n.694G>T
c.415G>T (p.Val139Leu)
c.-307G>T (n.-307G>T)
 dbSNP
19g.12663754C=CA2323506895MAN2B1c.712G= (p.Val238=)
n.694G=
c.415G= (p.Val139=)
c.-307G= (n.-307G=)
19g.12663754C>GCA404252748MAN2B1c.712G>C (p.Val238Leu)
n.694G>C
c.415G>C (p.Val139Leu)
c.-307G>C (n.-307G>C)
19g.12663754C>TCA404252751MAN2B1c.712G>A (p.Val238Met)
n.694G>A
c.415G>A (p.Val139Met)
c.-307G>A (n.-307G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.12663755C>ACA404252755MAN2B1c.711G>T (p.Gln237His)
n.693G>T
c.414G>T (p.Gln138His)
c.-308G>T (n.-308G>T)
19g.12663755C>GCA404252756MAN2B1c.711G>C (p.Gln237His)
n.693G>C
c.414G>C (p.Gln138His)
c.-308G>C (n.-308G>C)
19g.12663755C>TCA505625710MAN2B1c.711G>A (p.Gln237=)
n.693G>A
c.414G>A (p.Gln138=)
c.-308G>A (n.-308G>A)
19g.12663756T>ACA404252758MAN2B1c.710A>T (p.Gln237Leu)
n.692A>T
c.413A>T (p.Gln138Leu)
c.-309A>T (n.-309A>T)
19g.12663756T>CCA404252761MAN2B1c.710A>G (p.Gln237Arg)
n.692A>G
c.413A>G (p.Gln138Arg)
c.-309A>G (n.-309A>G)
19g.12663756T>GCA404252764MAN2B1c.710A>C (p.Gln237Pro)
n.692A>C
c.413A>C (p.Gln138Pro)
c.-309A>C (n.-309A>C)
19g.12663757G>ACA404252768MAN2B1c.709C>T (p.Gln237Ter)
n.691C>T
c.412C>T (p.Gln138Ter)
c.-310C>T (n.-310C>T)
19g.12663757G>CCA404252769MAN2B1c.709C>G (p.Gln237Glu)
n.691C>G
c.412C>G (p.Gln138Glu)
c.-310C>G (n.-310C>G)
19g.12663757G>TCA404252771MAN2B1c.709C>A (p.Gln237Lys)
n.691C>A
c.412C>A (p.Gln138Lys)
c.-310C>A (n.-310C>A)
19g.12663758C>ACA404252773MAN2B1c.708G>T (p.Glu236Asp)
n.690G>T
c.411G>T (p.Glu137Asp)
c.-311G>T (n.-311G>T)
 gnomAD v4
19g.12663758C=CA2323506896MAN2B1c.708G= (p.Glu236=)
n.690G=
c.411G= (p.Glu137=)
c.-311G= (n.-311G=)
19g.12663758C>GCA404252775MAN2B1c.708G>C (p.Glu236Asp)
n.690G>C
c.411G>C (p.Glu137Asp)
c.-311G>C (n.-311G>C)
 dbSNP gnomAD v4
19g.12663758C>TCA505625711MAN2B1c.708G>A (p.Glu236=)
n.690G>A
c.411G>A (p.Glu137=)
c.-311G>A (n.-311G>A)
 ClinVar dbSNP gnomAD v4
19g.12663759T>ACA404252784MAN2B1c.707A>T (p.Glu236Val)
n.689A>T
c.410A>T (p.Glu137Val)
c.-312A>T (n.-312A>T)
19g.12663759T>CCA404252781MAN2B1c.707A>G (p.Glu236Gly)
n.689A>G
c.410A>G (p.Glu137Gly)
c.-312A>G (n.-312A>G)
19g.12663759T>GCA404252778MAN2B1c.707A>C (p.Glu236Ala)
n.689A>C
c.410A>C (p.Glu137Ala)
c.-312A>C (n.-312A>C)
19g.12663760C>ACA404252786MAN2B1c.706G>T (p.Glu236Ter)
n.688G>T
c.409G>T (p.Glu137Ter)
c.-313G>T (n.-313G>T)
19g.12663760C=CA2323506897MAN2B1c.706G= (p.Glu236=)
n.688G=
c.409G= (p.Glu137=)
c.-313G= (n.-313G=)
19g.12663760C>GCA404252787MAN2B1c.706G>C (p.Glu236Gln)
n.688G>C
c.409G>C (p.Glu137Gln)
c.-313G>C (n.-313G>C)
 dbSNP gnomAD v2 gnomAD v4
19g.12663760C>TCA404252788MAN2B1c.706G>A (p.Glu236Lys)
n.688G>A
c.409G>A (p.Glu137Lys)
c.-313G>A (n.-313G>A)
19g.12663761C>ACA404252789MAN2B1c.705G>T (p.Met235Ile)
n.687G>T
c.408G>T (p.Met136Ile)
c.-314G>T (n.-314G>T)
19g.12663761C>GCA404252791MAN2B1c.705G>C (p.Met235Ile)
n.687G>C
c.408G>C (p.Met136Ile)
c.-314G>C (n.-314G>C)
19g.12663761C>TCA404252793MAN2B1c.705G>A (p.Met235Ile)
n.687G>A
c.408G>A (p.Met136Ile)
c.-314G>A (n.-314G>A)
 gnomAD v4
19g.12663762A>CCA404252795MAN2B1c.704T>G (p.Met235Arg)
n.686T>G
c.407T>G (p.Met136Arg)
c.-315T>G (n.-315T>G)
19g.12663762A>GCA404252798MAN2B1c.704T>C (p.Met235Thr)
n.686T>C
c.407T>C (p.Met136Thr)
c.-315T>C (n.-315T>C)
19g.12663762A>TCA404252800MAN2B1c.704T>A (p.Met235Lys)
n.686T>A
c.407T>A (p.Met136Lys)
c.-315T>A (n.-315T>A)
19g.12663763T>ACA404252803MAN2B1c.703A>T (p.Met235Leu)
n.685A>T
c.406A>T (p.Met136Leu)
c.-316A>T (n.-316A>T)
19g.12663763T>CCA404252806MAN2B1c.703A>G (p.Met235Val)
n.685A>G
c.406A>G (p.Met136Val)
c.-316A>G (n.-316A>G)
19g.12663763T>GCA404252808MAN2B1c.703A>C (p.Met235Leu)
n.685A>C
c.406A>C (p.Met136Leu)
c.-316A>C (n.-316A>C)
19g.12663764C>ACA404252811MAN2B1c.702G>T (p.Glu234Asp)
n.684G>T
c.405G>T (p.Glu135Asp)
c.-317G>T (n.-317G>T)
19g.12663764C=CA2323506898MAN2B1c.702G= (p.Glu234=)
n.684G=
c.405G= (p.Glu135=)
c.-317G= (n.-317G=)
19g.12663764C>GCA404252813MAN2B1c.702G>C (p.Glu234Asp)
n.684G>C
c.405G>C (p.Glu135Asp)
c.-317G>C (n.-317G>C)
 dbSNP
19g.12663764C>TCA505625712MAN2B1c.702G>A (p.Glu234=)
n.684G>A
c.405G>A (p.Glu135=)
c.-317G>A (n.-317G>A)
 gnomAD v4
19g.12663765T>ACA404252824MAN2B1c.701A>T (p.Glu234Val)
n.683A>T
c.404A>T (p.Glu135Val)
c.-318A>T (n.-318A>T)
 gnomAD v4
19g.12663765T>CCA404252826MAN2B1c.701A>G (p.Glu234Gly)
n.683A>G
c.404A>G (p.Glu135Gly)
c.-318A>G (n.-318A>G)
19g.12663765T>GCA404252818MAN2B1c.701A>C (p.Glu234Ala)
n.683A>C
c.404A>C (p.Glu135Ala)
c.-318A>C (n.-318A>C)
19g.12663766C>ACA404252829MAN2B1c.700G>T (p.Glu234Ter)
n.682G>T
c.403G>T (p.Glu135Ter)
c.-319G>T (n.-319G>T)
19g.12663766C>GCA404252830MAN2B1c.700G>C (p.Glu234Gln)
n.682G>C
c.403G>C (p.Glu135Gln)
c.-319G>C (n.-319G>C)
19g.12663766C>TCA404252832MAN2B1c.700G>A (p.Glu234Lys)
n.682G>A
c.403G>A (p.Glu135Lys)
c.-319G>A (n.-319G>A)
19g.12663767C>ACA505625713MAN2B1c.699G>T (p.Leu233=)
n.681G>T
c.402G>T (p.Leu134=)
c.-320G>T (n.-320G>T)
19g.12663767C>GCA505625714MAN2B1c.699G>C (p.Leu233=)
n.681G>C
c.402G>C (p.Leu134=)
c.-320G>C (n.-320G>C)
19g.12663767C>TCA505625715MAN2B1c.699G>A (p.Leu233=)
n.681G>A
c.402G>A (p.Leu134=)
c.-320G>A (n.-320G>A)
19g.12663768A=CA2323506899MAN2B1c.698T= (p.Leu233=)
n.680T=
c.401T= (p.Leu134=)
c.-321T= (n.-321T=)
19g.12663768A>CCA404252835MAN2B1c.698T>G (p.Leu233Arg)
n.680T>G
c.401T>G (p.Leu134Arg)
c.-321T>G (n.-321T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.12663768A>GCA404252836MAN2B1c.698T>C (p.Leu233Pro)
n.680T>C
c.401T>C (p.Leu134Pro)
c.-321T>C (n.-321T>C)
 gnomAD v4
19g.12663768A>TCA404252838MAN2B1c.698T>A (p.Leu233Gln)
n.680T>A
c.401T>A (p.Leu134Gln)
c.-321T>A (n.-321T>A)
 dbSNP gnomAD v2 gnomAD v4
19g.12663769G>ACA505625716MAN2B1c.697C>T (p.Leu233=)
n.679C>T
c.400C>T (p.Leu134=)
c.-322C>T (n.-322C>T)
 ClinVar
19g.12663769G>CCA404252841MAN2B1c.697C>G (p.Leu233Val)
n.679C>G
c.400C>G (p.Leu134Val)
c.-322C>G (n.-322C>G)
 gnomAD v4
19g.12663769G>TCA404252843MAN2B1c.697C>A (p.Leu233Met)
n.679C>A
c.400C>A (p.Leu134Met)
c.-322C>A (n.-322C>A)
19g.12663770C>ACA404252845MAN2B1c.696G>T (p.Lys232Asn)
n.678G>T
c.399G>T (p.Lys133Asn)
c.-323G>T (n.-323G>T)
19g.12663770C>GCA404252847MAN2B1c.696G>C (p.Lys232Asn)
n.678G>C
c.399G>C (p.Lys133Asn)
c.-323G>C (n.-323G>C)
19g.12663770C>TCA505625717MAN2B1c.696G>A (p.Lys232=)
n.678G>A
c.399G>A (p.Lys133=)
c.-323G>A (n.-323G>A)
 gnomAD v4
19g.12663771T>ACA404252849MAN2B1c.695A>T (p.Lys232Met)
n.677A>T
c.398A>T (p.Lys133Met)
c.-324A>T (n.-324A>T)
19g.12663771T>CCA404252851MAN2B1c.695A>G (p.Lys232Arg)
n.677A>G
c.398A>G (p.Lys133Arg)
c.-324A>G (n.-324A>G)
19g.12663771T>GCA404252853MAN2B1c.695A>C (p.Lys232Thr)
n.677A>C
c.398A>C (p.Lys133Thr)
c.-324A>C (n.-324A>C)
19g.12663772T>ACA404252860MAN2B1c.694A>T (p.Lys232Ter)
n.676A>T
c.397A>T (p.Lys133Ter)
c.-325A>T (n.-325A>T)
19g.12663772T>CCA404252856MAN2B1c.694A>G (p.Lys232Glu)
n.676A>G
c.397A>G (p.Lys133Glu)
c.-325A>G (n.-325A>G)
 gnomAD v4
19g.12663772T>GCA404252858MAN2B1c.694A>C (p.Lys232Gln)
n.676A>C
c.397A>C (p.Lys133Gln)
c.-325A>C (n.-325A>C)
19g.12663773C>ACA404252861MAN2B1c.693G>T (p.Gln231His)
n.675G>T
c.396G>T (p.Gln132His)
c.-326G>T (n.-326G>T)
19g.12663773C>GCA404252863MAN2B1c.693G>C (p.Gln231His)
n.675G>C
c.396G>C (p.Gln132His)
c.-326G>C (n.-326G>C)
19g.12663773C>TCA505625718MAN2B1c.693G>A (p.Gln231=)
n.675G>A
c.396G>A (p.Gln132=)
c.-326G>A (n.-326G>A)
19g.12663774T>ACA404252865MAN2B1c.692A>T (p.Gln231Leu)
n.674A>T
c.395A>T (p.Gln132Leu)
c.-327A>T (n.-327A>T)
19g.12663774T>CCA404252867MAN2B1c.692A>G (p.Gln231Arg)
n.674A>G
c.395A>G (p.Gln132Arg)
c.-327A>G (n.-327A>G)
19g.12663774T>GCA404252869MAN2B1c.692A>C (p.Gln231Pro)
n.674A>C
c.395A>C (p.Gln132Pro)
c.-327A>C (n.-327A>C)
19g.12663775G>ACA404252872MAN2B1c.691C>T (p.Gln231Ter)
n.673C>T
c.394C>T (p.Gln132Ter)
c.-328C>T (n.-328C>T)
19g.12663775G>CCA404252873MAN2B1c.691C>G (p.Gln231Glu)
n.673C>G
c.394C>G (p.Gln132Glu)
c.-328C>G (n.-328C>G)
19g.12663775G>TCA404252874MAN2B1c.691C>A (p.Gln231Lys)
n.673C>A
c.394C>A (p.Gln132Lys)
c.-328C>A (n.-328C>A)
19g.12663776C>ACA404252877MAN2B1c.690G>T (p.Met230Ile)
n.672G>T
c.393G>T (p.Met131Ile)
c.-329G>T (n.-329G>T)
19g.12663776C=CA2323506900MAN2B1c.690G= (p.Met230=)
n.672G=
c.393G= (p.Met131=)
c.-329G= (n.-329G=)
19g.12663776C>GCA404252879MAN2B1c.690G>C (p.Met230Ile)
n.672G>C
c.393G>C (p.Met131Ile)
c.-329G>C (n.-329G>C)
19g.12663776C>TCA404252880MAN2B1c.690G>A (p.Met230Ile)
n.672G>A
c.393G>A (p.Met131Ile)
c.-329G>A (n.-329G>A)
 dbSNP
19g.12663777A=CA2323506901MAN2B1c.689T= (p.Met230=)
n.671T=
c.392T= (p.Met131=)
c.-330T= (n.-330T=)
19g.12663777A>CCA404252883MAN2B1c.689T>G (p.Met230Arg)
n.671T>G
c.392T>G (p.Met131Arg)
c.-330T>G (n.-330T>G)
19g.12663777A>GCA404252886MAN2B1c.689T>C (p.Met230Thr)
n.671T>C
c.392T>C (p.Met131Thr)
c.-330T>C (n.-330T>C)
19g.12663777A>TCA305477972MAN2B1c.689T>A (p.Met230Lys)
n.671T>A
c.392T>A (p.Met131Lys)
c.-330T>A (n.-330T>A)
 dbSNP
19g.12663778T>ACA404252889MAN2B1c.688A>T (p.Met230Leu)
n.670A>T
c.391A>T (p.Met131Leu)
c.-331A>T (n.-331A>T)
19g.12663778T>CCA404252892MAN2B1c.688A>G (p.Met230Val)
n.670A>G
c.391A>G (p.Met131Val)
c.-331A>G (n.-331A>G)
19g.12663778T>GCA404252890MAN2B1c.688A>C (p.Met230Leu)
n.670A>C
c.391A>C (p.Met131Leu)
c.-331A>C (n.-331A>C)
19g.12663779C>ACA505625719MAN2B1c.687G>T (p.Arg229=)
n.669G>T
c.390G>T (p.Arg130=)
c.-332G>T (n.-332G>T)
19g.12663779C=CA2323506902MAN2B1c.687G= (p.Arg229=)
n.669G=
c.390G= (p.Arg130=)
c.-332G= (n.-332G=)
19g.12663779C>GCA505625720MAN2B1c.687G>C (p.Arg229=)
n.669G>C
c.390G>C (p.Arg130=)
c.-332G>C (n.-332G>C)
19g.12663779C>TCA505625721MAN2B1c.687G>A (p.Arg229=)
n.669G>A
c.390G>A (p.Arg130=)
c.-332G>A (n.-332G>A)
 ClinVar dbSNP gnomAD v4
19g.12663780C>ACA404252895MAN2B1c.686G>T (p.Arg229Leu)
n.668G>T
c.389G>T (p.Arg130Leu)
c.-333G>T (n.-333G>T)
 ClinVar dbSNP
19g.12663780C=CA2323506903MAN2B1c.686G= (p.Arg229=)
n.668G=
c.389G= (p.Arg130=)
c.-333G= (n.-333G=)
19g.12663780C>GCA404252897MAN2B1c.686G>C (p.Arg229Pro)
n.668G>C
c.389G>C (p.Arg130Pro)
c.-333G>C (n.-333G>C)
19g.12663780C>TCA9226733MAN2B1c.686G>A (p.Arg229Gln)
n.668G>A
c.389G>A (p.Arg130Gln)
c.-333G>A (n.-333G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12663781G>ACA350933MAN2B1c.685C>T (p.Arg229Trp)
n.667C>T
c.388C>T (p.Arg130Trp)
c.-334C>T (n.-334C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12663781G>CCA404252900MAN2B1c.685C>G (p.Arg229Gly)
n.667C>G
c.388C>G (p.Arg130Gly)
c.-334C>G (n.-334C>G)
19g.12663781G=CA2323506904MAN2B1c.685C= (p.Arg229=)
n.667C=
c.388C= (p.Arg130=)
c.-334C= (n.-334C=)
19g.12663781G>TCA505625722MAN2B1c.685C>A (p.Arg229=)
n.667C>A
c.388C>A (p.Arg130=)
c.-334C>A (n.-334C>A)
19g.12663782T>ACA505625723MAN2B1c.684A>T (p.Val228=)
n.666A>T
c.387A>T (p.Val129=)
c.-335A>T (n.-335A>T)
19g.12663782T>CCA505625724MAN2B1c.684A>G (p.Val228=)
n.666A>G
c.387A>G (p.Val129=)
c.-335A>G (n.-335A>G)
19g.12663782T>GCA505625725MAN2B1c.684A>C (p.Val228=)
n.666A>C
c.387A>C (p.Val129=)
c.-335A>C (n.-335A>C)
19g.12663783A>CCA404252902MAN2B1c.683T>G (p.Val228Gly)
n.665T>G
c.386T>G (p.Val129Gly)
c.-336T>G (n.-336T>G)
19g.12663783A>GCA404252904MAN2B1c.683T>C (p.Val228Ala)
n.665T>C
c.386T>C (p.Val129Ala)
c.-336T>C (n.-336T>C)
19g.12663783A>TCA404252906MAN2B1c.683T>A (p.Val228Glu)
n.665T>A
c.386T>A (p.Val129Glu)
c.-336T>A (n.-336T>A)
 gnomAD v4
19g.12663784C>ACA404252908MAN2B1c.682G>T (p.Val228Leu)
n.664G>T
c.385G>T (p.Val129Leu)
c.-337G>T (n.-337G>T)
19g.12663784C>GCA404252910MAN2B1c.682G>C (p.Val228Leu)
n.664G>C
c.385G>C (p.Val129Leu)
c.-337G>C (n.-337G>C)
19g.12663784C>TCA404252911MAN2B1c.682G>A (p.Val228Ile)
n.664G>A
c.385G>A (p.Val129Ile)
c.-337G>A (n.-337G>A)
19g.12663785C>ACA404252914MAN2B1c.681G>T (p.Trp227Cys)
n.663G>T
c.384G>T (p.Trp128Cys)
c.-338G>T (n.-338G>T)
19g.12663785C>GCA404252916MAN2B1c.681G>C (p.Trp227Cys)
n.663G>C
c.384G>C (p.Trp128Cys)
c.-338G>C (n.-338G>C)
 gnomAD v4
19g.12663785C>TCA404252917MAN2B1c.681G>A (p.Trp227Ter)
n.663G>A
c.384G>A (p.Trp128Ter)
c.-338G>A (n.-338G>A)
 ClinVar gnomAD v3 gnomAD v4
19g.12663786C>ACA404252919MAN2B1c.680G>T (p.Trp227Leu)
n.662G>T
c.383G>T (p.Trp128Leu)
c.-339G>T (n.-339G>T)
19g.12663786C=CA2323506905MAN2B1c.680G= (p.Trp227=)
n.662G=
c.383G= (p.Trp128=)
c.-339G= (n.-339G=)
19g.12663786C>GCA404252922MAN2B1c.680G>C (p.Trp227Ser)
n.662G>C
c.383G>C (p.Trp128Ser)
c.-339G>C (n.-339G>C)
19g.12663786C>TCA9226734MAN2B1c.680G>A (p.Trp227Ter)
n.662G>A
c.383G>A (p.Trp128Ter)
c.-339G>A (n.-339G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.12663787A>CCA404252923MAN2B1c.679T>G (p.Trp227Gly)
n.661T>G
c.382T>G (p.Trp128Gly)
c.-340T>G (n.-340T>G)
19g.12663787A>GCA404252925MAN2B1c.679T>C (p.Trp227Arg)
n.661T>C
c.382T>C (p.Trp128Arg)
c.-340T>C (n.-340T>C)
19g.12663787A>TCA404252927MAN2B1c.679T>A (p.Trp227Arg)
n.661T>A
c.382T>A (p.Trp128Arg)
c.-340T>A (n.-340T>A)
19g.12663788C>ACA404252929MAN2B1c.678G>T (p.Lys226Asn)
n.660G>T
c.381G>T (p.Lys127Asn)
c.-341G>T (n.-341G>T)
19g.12663788C=CA2323506906MAN2B1c.678G= (p.Lys226=)
n.660G=
c.381G= (p.Lys127=)
c.-341G= (n.-341G=)
19g.12663788C>GCA404252931MAN2B1c.678G>C (p.Lys226Asn)
n.660G>C
c.381G>C (p.Lys127Asn)
c.-341G>C (n.-341G>C)
19g.12663788C>TCA305477987MAN2B1c.678G>A (p.Lys226=)
n.660G>A
c.381G>A (p.Lys127=)
c.-341G>A (n.-341G>A)
 dbSNP gnomAD v4
19g.12663789T>ACA404252932MAN2B1c.677A>T (p.Lys226Met)
n.659A>T
c.380A>T (p.Lys127Met)
c.-342A>T (n.-342A>T)
19g.12663789T>CCA404252933MAN2B1c.677A>G (p.Lys226Arg)
n.659A>G
c.380A>G (p.Lys127Arg)
c.-342A>G (n.-342A>G)
19g.12663789T>GCA404252936MAN2B1c.677A>C (p.Lys226Thr)
n.659A>C
c.380A>C (p.Lys127Thr)
c.-342A>C (n.-342A>C)
19g.12663790T>ACA404252939MAN2B1c.676A>T (p.Lys226Ter)
n.658A>T
c.379A>T (p.Lys127Ter)
c.-343A>T (n.-343A>T)
19g.12663790T>CCA404252940MAN2B1c.676A>G (p.Lys226Glu)
n.658A>G
c.379A>G (p.Lys127Glu)
c.-343A>G (n.-343A>G)
19g.12663790T>GCA404252938MAN2B1c.676A>C (p.Lys226Gln)
n.658A>C
c.379A>C (p.Lys127Gln)
c.-343A>C (n.-343A>C)
19g.12663791A>CCA404252941MAN2B1c.675T>G (p.Asp225Glu)
n.657T>G
c.378T>G (p.Asp126Glu)
c.-344T>G (n.-344T>G)
19g.12663791A>GCA505625726MAN2B1c.675T>C (p.Asp225=)
n.657T>C
c.378T>C (p.Asp126=)
c.-344T>C (n.-344T>C)
19g.12663791A>TCA404252942MAN2B1c.675T>A (p.Asp225Glu)
n.657T>A
c.378T>A (p.Asp126Glu)
c.-344T>A (n.-344T>A)
19g.12663792T>ACA404252943MAN2B1c.674A>T (p.Asp225Val)
n.656A>T
c.377A>T (p.Asp126Val)
c.-345A>T (n.-345A>T)
19g.12663792T>CCA404252944MAN2B1c.674A>G (p.Asp225Gly)
n.656A>G
c.377A>G (p.Asp126Gly)
c.-345A>G (n.-345A>G)
 gnomAD v4
19g.12663792T>GCA404252946MAN2B1c.674A>C (p.Asp225Ala)
n.656A>C
c.377A>C (p.Asp126Ala)
c.-345A>C (n.-345A>C)
19g.12663793C>ACA404252951MAN2B1c.673G>T (p.Asp225Tyr)
n.655G>T
c.376G>T (p.Asp126Tyr)
c.-346G>T (n.-346G>T)
 dbSNP gnomAD v3 gnomAD v4
19g.12663793C=CA2323506907MAN2B1c.673G= (p.Asp225=)
n.655G=
c.376G= (p.Asp126=)
c.-346G= (n.-346G=)
19g.12663793C>GCA404252948MAN2B1c.673G>C (p.Asp225His)
n.655G>C
c.376G>C (p.Asp126His)
c.-346G>C (n.-346G>C)
 ClinVar dbSNP
19g.12663793C>TCA404252950MAN2B1c.673G>A (p.Asp225Asn)
n.655G>A
c.376G>A (p.Asp126Asn)
c.-346G>A (n.-346G>A)
19g.12663794T>ACA404252953MAN2B1c.672A>T (p.Gln224His)
n.654A>T
c.375A>T (p.Gln125His)
c.-347A>T (n.-347A>T)
19g.12663794T>CCA505625727MAN2B1c.672A>G (p.Gln224=)
n.654A>G
c.375A>G (p.Gln125=)
c.-347A>G (n.-347A>G)
 gnomAD v4
19g.12663794T>GCA404252955MAN2B1c.672A>C (p.Gln224His)
n.654A>C
c.375A>C (p.Gln125His)
c.-347A>C (n.-347A>C)
19g.12663795T>ACA404252957MAN2B1c.671A>T (p.Gln224Leu)
n.653A>T
c.374A>T (p.Gln125Leu)
c.-348A>T (n.-348A>T)
19g.12663795T>CCA9226735MAN2B1c.671A>G (p.Gln224Arg)
n.653A>G
c.374A>G (p.Gln125Arg)
c.-348A>G (n.-348A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12663795T>GCA404252960MAN2B1c.671A>C (p.Gln224Pro)
n.653A>C
c.374A>C (p.Gln125Pro)
c.-348A>C (n.-348A>C)
19g.12663795T=CA2323506908MAN2B1c.671A= (p.Gln224=)
n.653A=
c.374A= (p.Gln125=)
c.-348A= (n.-348A=)
19g.12663795_12663796delCA2580096638MAN2B1c.670_671del (p.Gln224ArgfsTer2)
n.652_653del
c.373_374del (p.Gln125ArgfsTer2)
c.-349_-348del (n.-349_-348del)
 ClinVar
19g.12663796G>ACA404252962MAN2B1c.670C>T (p.Gln224Ter)
n.652C>T
c.373C>T (p.Gln125Ter)
c.-349C>T (n.-349C>T)
19g.12663796G>CCA404252973MAN2B1c.670C>G (p.Gln224Glu)
n.652C>G
c.373C>G (p.Gln125Glu)
c.-349C>G (n.-349C>G)
19g.12663796G>TCA404252964MAN2B1c.670C>A (p.Gln224Lys)
n.652C>A
c.373C>A (p.Gln125Lys)
c.-349C>A (n.-349C>A)
19g.12663797A>CCA404252974MAN2B1c.669T>G (p.Tyr223Ter)
n.651T>G
c.372T>G (p.Tyr124Ter)
c.-350T>G (n.-350T>G)
19g.12663797A>GCA505625728MAN2B1c.669T>C (p.Tyr223=)
n.651T>C
c.372T>C (p.Tyr124=)
c.-350T>C (n.-350T>C)
 gnomAD v4
19g.12663797A>TCA404252976MAN2B1c.669T>A (p.Tyr223Ter)
n.651T>A
c.372T>A (p.Tyr124Ter)
c.-350T>A (n.-350T>A)
19g.12663798T>ACA404252978MAN2B1c.668A>T (p.Tyr223Phe)
n.650A>T
c.371A>T (p.Tyr124Phe)
c.-351A>T (n.-351A>T)
19g.12663798T>CCA404252980MAN2B1c.668A>G (p.Tyr223Cys)
n.650A>G
c.371A>G (p.Tyr124Cys)
c.-351A>G (n.-351A>G)
19g.12663798T>GCA404252984MAN2B1c.668A>C (p.Tyr223Ser)
n.650A>C
c.371A>C (p.Tyr124Ser)
c.-351A>C (n.-351A>C)
19g.12663799A>CCA404252987MAN2B1c.667T>G (p.Tyr223Asp)
n.649T>G
c.370T>G (p.Tyr124Asp)
c.-352T>G (n.-352T>G)
19g.12663799A>GCA404252989MAN2B1c.667T>C (p.Tyr223His)
n.649T>C
c.370T>C (p.Tyr124His)
c.-352T>C (n.-352T>C)
 gnomAD v4
19g.12663799A>TCA404252990MAN2B1c.667T>A (p.Tyr223Asn)
n.649T>A
c.370T>A (p.Tyr124Asn)
c.-352T>A (n.-352T>A)
19g.12663801_12663804delCA2695198140MAN2B1c.664_667del (p.Asp222IlefsTer23)
n.646_649del
c.367_370del (p.Asp123IlefsTer23)
c.-355_-352del (n.-355_-352del)
 ClinVar
19g.12663800A=CA2323506909MAN2B1c.666T= (p.Asp222=)
n.648T=
c.369T= (p.Asp123=)
c.-353T= (n.-353T=)
19g.12663800A>CCA404252991MAN2B1c.666T>G (p.Asp222Glu)
n.648T>G
c.369T>G (p.Asp123Glu)
c.-353T>G (n.-353T>G)
19g.12663800A>GCA9226736MAN2B1c.666T>C (p.Asp222=)
n.648T>C
c.369T>C (p.Asp123=)
c.-353T>C (n.-353T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.12663800A>TCA404252992MAN2B1c.666T>A (p.Asp222Glu)
n.648T>A
c.369T>A (p.Asp123Glu)
c.-353T>A (n.-353T>A)
19g.12663801T>ACA404252994MAN2B1c.665A>T (p.Asp222Val)
n.647A>T
c.368A>T (p.Asp123Val)
c.-354A>T (n.-354A>T)
19g.12663801T>CCA9226737MAN2B1c.665A>G (p.Asp222Gly)
n.647A>G
c.368A>G (p.Asp123Gly)
c.-354A>G (n.-354A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12663801T>GCA404252993MAN2B1c.665A>C (p.Asp222Ala)
n.647A>C
c.368A>C (p.Asp123Ala)
c.-354A>C (n.-354A>C)
19g.12663801T=CA2323506910MAN2B1c.665A= (p.Asp222=)
n.647A=
c.368A= (p.Asp123=)
c.-354A= (n.-354A=)
19g.12663802C>ACA404252997MAN2B1c.664G>T (p.Asp222Tyr)
n.646G>T
c.367G>T (p.Asp123Tyr)
c.-355G>T (n.-355G>T)
19g.12663802C>GCA404252995MAN2B1c.664G>C (p.Asp222His)
n.646G>C
c.367G>C (p.Asp123His)
c.-355G>C (n.-355G>C)
19g.12663802C>TCA404252996MAN2B1c.664G>A (p.Asp222Asn)
n.646G>A
c.367G>A (p.Asp123Asn)
c.-355G>A (n.-355G>A)
 gnomAD v4
19g.12663803A>CCA505625729MAN2B1c.663T>G (p.Leu221=)
n.645T>G
c.366T>G (p.Leu122=)
c.-356T>G (n.-356T>G)
19g.12663803A>GCA505625730MAN2B1c.663T>C (p.Leu221=)
n.645T>C
c.366T>C (p.Leu122=)
c.-356T>C (n.-356T>C)
19g.12663803A>TCA505625731MAN2B1c.663T>A (p.Leu221=)
n.645T>A
c.366T>A (p.Leu122=)
c.-356T>A (n.-356T>A)
19g.12663804A>CCA404252998MAN2B1c.662T>G (p.Leu221Arg)
n.644T>G
c.365T>G (p.Leu122Arg)
c.-357T>G (n.-357T>G)
19g.12663804A>GCA404252999MAN2B1c.662T>C (p.Leu221Pro)
n.644T>C
c.365T>C (p.Leu122Pro)
c.-357T>C (n.-357T>C)
19g.12663804A>TCA404253000MAN2B1c.662T>A (p.Leu221His)
n.644T>A
c.365T>A (p.Leu122His)
c.-357T>A (n.-357T>A)
19g.12663805G>ACA404253005MAN2B1c.661C>T (p.Leu221Phe)
n.643C>T
c.364C>T (p.Leu122Phe)
c.-358C>T (n.-358C>T)
 gnomAD v4
19g.12663805G>CCA404253003MAN2B1c.661C>G (p.Leu221Val)
n.643C>G
c.364C>G (p.Leu122Val)
c.-358C>G (n.-358C>G)
19g.12663805G>TCA404253002MAN2B1c.661C>A (p.Leu221Ile)
n.643C>A
c.364C>A (p.Leu122Ile)
c.-358C>A (n.-358C>A)
19g.12663806G>ACA505625732MAN2B1c.660C>T (p.Arg220=)
n.642C>T
c.363C>T (p.Arg121=)
c.-359C>T (n.-359C>T)
 ClinVar dbSNP gnomAD v4
19g.12663806G>CCA505625733MAN2B1c.660C>G (p.Arg220=)
n.642C>G
c.363C>G (p.Arg121=)
c.-359C>G (n.-359C>G)
19g.12663806G>TCA505625734MAN2B1c.660C>A (p.Arg220=)
n.642C>A
c.363C>A (p.Arg121=)
c.-359C>A (n.-359C>A)
 dbSNP gnomAD v4
19g.12663807C>ACA404253006MAN2B1c.659G>T (p.Arg220Leu)
n.641G>T
c.362G>T (p.Arg121Leu)
c.-360G>T (n.-360G>T)
19g.12663807C=CA2323506911MAN2B1c.659G= (p.Arg220=)
n.641G=
c.362G= (p.Arg121=)
c.-360G= (n.-360G=)
19g.12663807C>GCA404253008MAN2B1c.659G>C (p.Arg220Pro)
n.641G>C
c.362G>C (p.Arg121Pro)
c.-360G>C (n.-360G>C)
19g.12663807C>TCA404253010MAN2B1c.659G>A (p.Arg220His)
n.641G>A
c.362G>A (p.Arg121His)
c.-360G>A (n.-360G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched