| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.52771441A= | CA1910259299 | MBL2 | c.187+8T= (n.187+8T=) | |
| 10 | g.52771441A>G | CA5504415 | MBL2 | c.187+8T>C (n.187+8T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.52771442C>A | CA5504416 | MBL2 | c.187+7G>T (n.187+7G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.52771442C= | CA1910259300 | MBL2 | c.187+7G= (n.187+7G=) | |
| 10 | g.52771442C>T | CA2609210201 | MBL2 | c.187+7G>A (n.187+7G>A) | gnomAD v4 |
| 10 | g.52771443A= | CA1910259301 | MBL2 | c.187+6T= (n.187+6T=) | |
| 10 | g.52771443A>G | CA1910259302 | MBL2 | c.187+6T>C (n.187+6T>C) | dbSNP |
| 10 | g.52771444C= | CA1910259303 | MBL2 | c.187+5G= (n.187+5G=) | |
| 10 | g.52771444C>G | CA666360393 | MBL2 | c.187+5G>C (n.187+5G>C) | dbSNP gnomAD v4 |
| 10 | g.52771444C>T | CA5504417 | MBL2 | c.187+5G>A (n.187+5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.52771445G>A | CA5504418 | MBL2 | c.187+4C>T (n.187+4C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.52771445G= | CA1910259304 | MBL2 | c.187+4C= (n.187+4C=) | |
| 10 | g.52771446T>C | CA2609210202 | MBL2 | c.187+3A>G (n.187+3A>G) | gnomAD v4 |
| 10 | g.52771447A= | CA1910259305 | MBL2 | c.187+2T= (n.187+2T=) | |
| 10 | g.52771447A>C | CA376539947 | MBL2 | c.187+2T>G (n.187+2T>G) | |
| 10 | g.52771447A>G | CA376539948 | MBL2 | c.187+2T>C (n.187+2T>C) | |
| 10 | g.52771447A>T | CA376539949 | MBL2 | c.187+2T>A (n.187+2T>A) | dbSNP |
| 10 | g.52771448C>A | CA376539952 | MBL2 | c.187+1G>T (n.187+1G>T) | |
| 10 | g.52771448C>G | CA376539951 | MBL2 | c.187+1G>C (n.187+1G>C) | |
| 10 | g.52771448C>T | CA376539950 | MBL2 | c.187+1G>A (n.187+1G>A) | |
| 10 | g.52771449C>A | CA376539954 | MBL2 | c.187G>T (p.Gly63Cys) | gnomAD v4 |
| 10 | g.52771449C= | CA1910259306 | MBL2 | c.187G= (p.Gly63=) | |
| 10 | g.52771449C>G | CA376539953 | MBL2 | c.187G>C (p.Gly63Arg) | dbSNP |
| 10 | g.52771449C>T | CA376539955 | MBL2 | c.187G>A (p.Gly63Ser) | dbSNP |
| 10 | g.52771450T>A | CA469520578 | MBL2 | c.186A>T (p.Pro62=) | dbSNP |
| 10 | g.52771450T>C | CA469520579 | MBL2 | c.186A>G (p.Pro62=) | |
| 10 | g.52771450T>G | CA5504419 | MBL2 | c.186A>C (p.Pro62=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.52771450T= | CA1910259307 | MBL2 | c.186A= (p.Pro62=) | |
| 10 | g.52771451G>A | CA207457368 | MBL2 | c.185C>T (p.Pro62Leu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.52771451G>C | CA376539956 | MBL2 | c.185C>G (p.Pro62Arg) | dbSNP |
| 10 | g.52771451G= | CA1910259308 | MBL2 | c.185C= (p.Pro62=) | |
| 10 | g.52771451G>T | CA376539957 | MBL2 | c.185C>A (p.Pro62Gln) | |
| 10 | g.52771452G>A | CA376539958 | MBL2 | c.184C>T (p.Pro62Ser) | gnomAD v4 COSMIC |
| 10 | g.52771452G>C | CA376539959 | MBL2 | c.184C>G (p.Pro62Ala) | dbSNP |
| 10 | g.52771452G= | CA1910259309 | MBL2 | c.184C= (p.Pro62=) | |
| 10 | g.52771452G>T | CA376539960 | MBL2 | c.184C>A (p.Pro62Thr) | gnomAD v4 |
| 10 | g.52771453T>A | CA376539961 | MBL2 | c.183A>T (p.Glu61Asp) | gnomAD v4 |
| 10 | g.52771453T>C | CA469520580 | MBL2 | c.183A>G (p.Glu61=) | |
| 10 | g.52771453T>G | CA376539962 | MBL2 | c.183A>C (p.Glu61Asp) | |
| 10 | g.52771454del | CA2609210203 | MBL2 | c.183del (p.Glu61AspfsTer?) | gnomAD v4 |
| 10 | g.52771454T>A | CA376539963 | MBL2 | c.182A>T (p.Glu61Val) | |
| 10 | g.52771454T>C | CA376539964 | MBL2 | c.182A>G (p.Glu61Gly) | |
| 10 | g.52771454T>G | CA376539965 | MBL2 | c.182A>C (p.Glu61Ala) | |
| 10 | g.52771455C>A | CA5504421 | MBL2 | c.181G>T (p.Glu61Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.52771455C= | CA1910259310 | MBL2 | c.181G= (p.Glu61=) | |
| 10 | g.52771455C>G | CA376539966 | MBL2 | c.181G>C (p.Glu61Gln) | |
| 10 | g.52771455C>T | CA5504420 | MBL2 | c.181G>A (p.Glu61Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.52771456C>A | CA469520582 | MBL2 | c.180G>T (p.Gly60=) | |
| 10 | g.52771456C>G | CA469520583 | MBL2 | c.180G>C (p.Gly60=) | |
| 10 | g.52771456C>T | CA469520581 | MBL2 | c.180G>A (p.Gly60=) |