Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.12663694_12663701delinsGCCCCCTACA2323506869MAN2B1c.763+2_763+9delinsTAGGGGGC (n.763+2_763+9delinsTAGGGGGC)
n.745+2_745+9delinsTAGGGGGC
c.466+2_466+9delinsTAGGGGGC (n.466+2_466+9delinsTAGGGGGC)
c.-256+2_-256+9delinsTAGGGGGC (n.-256+2_-256+9delinsTAGGGGGC)
19g.12663697_12663703delCA16041955MAN2B1c.763+2_763+8del
n.745+2_745+8del
c.466+2_466+8del
c.-256+2_-256+8del
 ClinVar dbSNP gnomAD v4
19g.12663701A>CCA404252482MAN2B1c.763+2T>G (n.763+2T>G)
n.745+2T>G
c.466+2T>G (n.466+2T>G)
c.-256+2T>G (n.-256+2T>G)
19g.12663701A>GCA404252484MAN2B1c.763+2T>C (n.763+2T>C)
n.745+2T>C
c.466+2T>C (n.466+2T>C)
c.-256+2T>C (n.-256+2T>C)
 gnomAD v4
19g.12663701A>TCA404252486MAN2B1c.763+2T>A (n.763+2T>A)
n.745+2T>A
c.466+2T>A (n.466+2T>A)
c.-256+2T>A (n.-256+2T>A)
19g.12663702C>ACA404252494MAN2B1c.763+1G>T (n.763+1G>T)
n.745+1G>T
c.466+1G>T (n.466+1G>T)
c.-256+1G>T (n.-256+1G>T)
19g.12663702C>GCA404252491MAN2B1c.763+1G>C (n.763+1G>C)
n.745+1G>C
c.466+1G>C (n.466+1G>C)
c.-256+1G>C (n.-256+1G>C)
19g.12663702C>TCA404252489MAN2B1c.763+1G>A (n.763+1G>A)
n.745+1G>A
c.466+1G>A (n.466+1G>A)
c.-256+1G>A (n.-256+1G>A)
19g.12663703C>ACA404252497MAN2B1c.763G>T (p.Gly255Cys)
n.745G>T
c.466G>T (p.Gly156Cys)
c.-256G>T (n.-256G>T)
19g.12663703C>GCA404252500MAN2B1c.763G>C (p.Gly255Arg)
n.745G>C
c.466G>C (p.Gly156Arg)
c.-256G>C (n.-256G>C)
 ClinVar
19g.12663703C>TCA404252503MAN2B1c.763G>A (p.Gly255Ser)
n.745G>A
c.466G>A (p.Gly156Ser)
c.-256G>A (n.-256G>A)
19g.12663704A=CA2323506873MAN2B1c.762T= (p.Thr254=)
n.744T=
c.465T= (p.Thr155=)
c.-257T= (n.-257T=)
19g.12663704A>CCA505625673MAN2B1c.762T>G (p.Thr254=)
n.744T>G
c.465T>G (p.Thr155=)
c.-257T>G (n.-257T>G)
 dbSNP
19g.12663704A>GCA505625674MAN2B1c.762T>C (p.Thr254=)
n.744T>C
c.465T>C (p.Thr155=)
c.-257T>C (n.-257T>C)
 ClinVar dbSNP gnomAD v4
19g.12663704A>TCA505625675MAN2B1c.762T>A (p.Thr254=)
n.744T>A
c.465T>A (p.Thr155=)
c.-257T>A (n.-257T>A)
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)

Number of alleles fetched