Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.52771442C>ACA5504416MBL2c.187+7G>T (n.187+7G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.52771442C=CA1910259300MBL2c.187+7G= (n.187+7G=)
10g.52771442C>TCA2609210201MBL2c.187+7G>A (n.187+7G>A)
gnomAD v4
10g.52771443A=CA1910259301MBL2c.187+6T= (n.187+6T=)
10g.52771443A>GCA1910259302MBL2c.187+6T>C (n.187+6T>C)
dbSNP
10g.52771444C=CA1910259303MBL2c.187+5G= (n.187+5G=)
10g.52771444C>GCA666360393MBL2c.187+5G>C (n.187+5G>C)
dbSNP gnomAD v4
10g.52771444C>TCA5504417MBL2c.187+5G>A (n.187+5G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.52771445G>ACA5504418MBL2c.187+4C>T (n.187+4C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.52771445G=CA1910259304MBL2c.187+4C= (n.187+4C=)
10g.52771446T>CCA2609210202MBL2c.187+3A>G (n.187+3A>G)
gnomAD v4
10g.52771447A=CA1910259305MBL2c.187+2T= (n.187+2T=)
10g.52771447A>CCA376539947MBL2c.187+2T>G (n.187+2T>G)
10g.52771447A>GCA376539948MBL2c.187+2T>C (n.187+2T>C)
10g.52771447A>TCA376539949MBL2c.187+2T>A (n.187+2T>A)
dbSNP
10g.52771448C>ACA376539952MBL2c.187+1G>T (n.187+1G>T)
10g.52771448C>GCA376539951MBL2c.187+1G>C (n.187+1G>C)
10g.52771448C>TCA376539950MBL2c.187+1G>A (n.187+1G>A)
10g.52771449C>ACA376539954MBL2c.187G>T (p.Gly63Cys)
gnomAD v4
10g.52771449C=CA1910259306MBL2c.187G= (p.Gly63=)
10g.52771449C>GCA376539953MBL2c.187G>C (p.Gly63Arg)
dbSNP
10g.52771449C>TCA376539955MBL2c.187G>A (p.Gly63Ser)
dbSNP
10g.52771450T>ACA469520578MBL2c.186A>T (p.Pro62=)
dbSNP
10g.52771450T>CCA469520579MBL2c.186A>G (p.Pro62=)
10g.52771450T>GCA5504419MBL2c.186A>C (p.Pro62=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.52771450T=CA1910259307MBL2c.186A= (p.Pro62=)
10g.52771451G>ACA207457368MBL2c.185C>T (p.Pro62Leu)
dbSNP gnomAD v3 gnomAD v4 COSMIC
10g.52771451G>CCA376539956MBL2c.185C>G (p.Pro62Arg)
dbSNP
10g.52771451G=CA1910259308MBL2c.185C= (p.Pro62=)
10g.52771451G>TCA376539957MBL2c.185C>A (p.Pro62Gln)
10g.52771452G>ACA376539958MBL2c.184C>T (p.Pro62Ser)
gnomAD v4 COSMIC
10g.52771452G>CCA376539959MBL2c.184C>G (p.Pro62Ala)
dbSNP
10g.52771452G=CA1910259309MBL2c.184C= (p.Pro62=)
10g.52771452G>TCA376539960MBL2c.184C>A (p.Pro62Thr)
gnomAD v4
10g.52771453T>ACA376539961MBL2c.183A>T (p.Glu61Asp)
gnomAD v4
10g.52771453T>CCA469520580MBL2c.183A>G (p.Glu61=)
10g.52771453T>GCA376539962MBL2c.183A>C (p.Glu61Asp)
10g.52771454delCA2609210203MBL2c.183del (p.Glu61AspfsTer?)
gnomAD v4
10g.52771454T>ACA376539963MBL2c.182A>T (p.Glu61Val)
10g.52771454T>CCA376539964MBL2c.182A>G (p.Glu61Gly)
10g.52771454T>GCA376539965MBL2c.182A>C (p.Glu61Ala)
10g.52771455C>ACA5504421MBL2c.181G>T (p.Glu61Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.52771455C=CA1910259310MBL2c.181G= (p.Glu61=)
10g.52771455C>GCA376539966MBL2c.181G>C (p.Glu61Gln)
10g.52771455C>TCA5504420MBL2c.181G>A (p.Glu61Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.52771456C>ACA469520582MBL2c.180G>T (p.Gly60=)
10g.52771456C>GCA469520583MBL2c.180G>C (p.Gly60=)
10g.52771456C>TCA469520581MBL2c.180G>A (p.Gly60=)
10g.52771457C>ACA376539967MBL2c.179G>T (p.Gly60Val)
10g.52771457C>GCA376539969MBL2c.179G>C (p.Gly60Ala)

Number of alleles fetched