| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.52771503_52771504delinsCG | CA1910259333 | MBL2 | c.132_133delinsCG (p.Asn44=) | |
| 10 | g.52771504del | CA5504429 | MBL2 | c.132del (p.Asn44LysfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.52771504G>A | CA5504430 | MBL2 | c.132C>T (p.Asn44=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.52771504G>C | CA376540067 | MBL2 | c.132C>G (p.Asn44Lys) | |
| 10 | g.52771504G= | CA1910259334 | MBL2 | c.132C= (p.Asn44=) | |
| 10 | g.52771504G>T | CA376540068 | MBL2 | c.132C>A (p.Asn44Lys) | |
| 10 | g.52771505T>A | CA376540069 | MBL2 | c.131A>T (p.Asn44Ile) | |
| 10 | g.52771505T>C | CA207457370 | MBL2 | c.131A>G (p.Asn44Ser) | dbSNP |
| 10 | g.52771505T>G | CA376540070 | MBL2 | c.131A>C (p.Asn44Thr) | |
| 10 | g.52771505T= | CA1910259335 | MBL2 | c.131A= (p.Asn44=) | |
| 10 | g.52771506T>A | CA376540071 | MBL2 | c.130A>T (p.Asn44Tyr) | |
| 10 | g.52771506T>C | CA376540072 | MBL2 | c.130A>G (p.Asn44Asp) | gnomAD v4 |
| 10 | g.52771506T>G | CA376540073 | MBL2 | c.130A>C (p.Asn44His) | |
| 10 | g.52771507G>A | CA469520617 | MBL2 | c.129C>T (p.Ile43=) | |
| 10 | g.52771507G>C | CA376540074 | MBL2 | c.129C>G (p.Ile43Met) | |
| 10 | g.52771507G>T | CA469520618 | MBL2 | c.129C>A (p.Ile43=) | |
| 10 | g.52771508A>C | CA376540077 | MBL2 | c.128T>G (p.Ile43Ser) | |
| 10 | g.52771508A>G | CA376540076 | MBL2 | c.128T>C (p.Ile43Thr) | |
| 10 | g.52771508A>T | CA376540075 | MBL2 | c.128T>A (p.Ile43Asn) | gnomAD v4 |
| 10 | g.52771509T>A | CA376540078 | MBL2 | c.127A>T (p.Ile43Phe) | |
| 10 | g.52771509T>C | CA376540079 | MBL2 | c.127A>G (p.Ile43Val) | gnomAD v4 |
| 10 | g.52771509T>G | CA376540080 | MBL2 | c.127A>C (p.Ile43Leu) | |
| 10 | g.52771510G>A | CA207457371 | MBL2 | c.126C>T (p.Gly42=) | dbSNP gnomAD v4 |
| 10 | g.52771510G>C | CA469520619 | MBL2 | c.126C>G (p.Gly42=) | |
| 10 | g.52771510G= | CA1910259336 | MBL2 | c.126C= (p.Gly42=) | |
| 10 | g.52771510G>T | CA469520620 | MBL2 | c.126C>A (p.Gly42=) | |
| 10 | g.52771512_52771520del | CA2609210205 | MBL2 | c.118_126del (p.Ser40_Gly42del) | gnomAD v4 |
| 10 | g.52771511C>A | CA376540081 | MBL2 | c.125G>T (p.Gly42Val) | |
| 10 | g.52771511C>G | CA376540082 | MBL2 | c.125G>C (p.Gly42Ala) | gnomAD v4 |
| 10 | g.52771511C>T | CA376540083 | MBL2 | c.125G>A (p.Gly42Asp) | gnomAD v4 |
| 10 | g.52771512C>A | CA376540084 | MBL2 | c.124G>T (p.Gly42Cys) | |
| 10 | g.52771512C>G | CA376540085 | MBL2 | c.124G>C (p.Gly42Arg) | |
| 10 | g.52771512C>T | CA376540086 | MBL2 | c.124G>A (p.Gly42Ser) | |
| 10 | g.52771513T>A | CA469520623 | MBL2 | c.123A>T (p.Pro41=) | |
| 10 | g.52771513T>C | CA469520621 | MBL2 | c.123A>G (p.Pro41=) | |
| 10 | g.52771513T>G | CA469520622 | MBL2 | c.123A>C (p.Pro41=) | |
| 10 | g.52771514G>A | CA376540087 | MBL2 | c.122C>T (p.Pro41Leu) | |
| 10 | g.52771514G>C | CA376540088 | MBL2 | c.122C>G (p.Pro41Arg) | |
| 10 | g.52771514G>T | CA376540089 | MBL2 | c.122C>A (p.Pro41Gln) | |
| 10 | g.52771515G>A | CA376540090 | MBL2 | c.121C>T (p.Pro41Ser) | |
| 10 | g.52771515G>C | CA5504431 | MBL2 | c.121C>G (p.Pro41Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.52771515G= | CA1910259337 | MBL2 | c.121C= (p.Pro41=) | |
| 10 | g.52771515G>T | CA376540091 | MBL2 | c.121C>A (p.Pro41Thr) | |
| 10 | g.52771516A>C | CA469520624 | MBL2 | c.120T>G (p.Ser40=) | |
| 10 | g.52771516A>G | CA469520625 | MBL2 | c.120T>C (p.Ser40=) | gnomAD v4 |
| 10 | g.52771516A>T | CA469520626 | MBL2 | c.120T>A (p.Ser40=) | |
| 10 | g.52771517G>A | CA376540093 | MBL2 | c.119C>T (p.Ser40Phe) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.52771517G>C | CA376540094 | MBL2 | c.119C>G (p.Ser40Cys) | |
| 10 | g.52771517G= | CA1910259338 | MBL2 | c.119C= (p.Ser40=) | |
| 10 | g.52771517G>T | CA376540092 | MBL2 | c.119C>A (p.Ser40Tyr) |