Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.12663705G>ACA9226720MAN2B1c.761C>T (p.Thr254Ile)
n.743C>T
c.464C>T (p.Thr155Ile)
c.-258C>T (n.-258C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.12663705G>CCA404252507MAN2B1c.761C>G (p.Thr254Ser)
n.743C>G
c.464C>G (p.Thr155Ser)
c.-258C>G (n.-258C>G)
19g.12663705G=CA2323506874MAN2B1c.761C= (p.Thr254=)
n.743C=
c.464C= (p.Thr155=)
c.-258C= (n.-258C=)
19g.12663705G>TCA404252510MAN2B1c.761C>A (p.Thr254Asn)
n.743C>A
c.464C>A (p.Thr155Asn)
c.-258C>A (n.-258C>A)
19g.12663706T>ACA404252514MAN2B1c.760A>T (p.Thr254Ser)
n.742A>T
c.463A>T (p.Thr155Ser)
c.-259A>T (n.-259A>T)
19g.12663706T>CCA9226721MAN2B1c.760A>G (p.Thr254Ala)
n.742A>G
c.463A>G (p.Thr155Ala)
c.-259A>G (n.-259A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.12663706T>GCA404252517MAN2B1c.760A>C (p.Thr254Pro)
n.742A>C
c.463A>C (p.Thr155Pro)
c.-259A>C (n.-259A>C)
19g.12663706T=CA2323506875MAN2B1c.760A= (p.Thr254=)
n.742A=
c.463A= (p.Thr155=)
c.-259A= (n.-259A=)
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

Number of alleles fetched