| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.52771498G>A | CA5504426 | MBL2 | c.138C>T (p.Phe46=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.52771498G>C | CA376540055 | MBL2 | c.138C>G (p.Phe46Leu) | |
| 10 | g.52771498G= | CA1910259329 | MBL2 | c.138C= (p.Phe46=) | |
| 10 | g.52771498G>T | CA376540056 | MBL2 | c.138C>A (p.Phe46Leu) | |
| 10 | g.52771499A>C | CA376540057 | MBL2 | c.137T>G (p.Phe46Cys) | |
| 10 | g.52771499A>G | CA376540058 | MBL2 | c.137T>C (p.Phe46Ser) | |
| 10 | g.52771499A>T | CA376540059 | MBL2 | c.137T>A (p.Phe46Tyr) | |
| 10 | g.52771500A= | CA1910259330 | MBL2 | c.136T= (p.Phe46=) | |
| 10 | g.52771500A>C | CA376540060 | MBL2 | c.136T>G (p.Phe46Val) | |
| 10 | g.52771500A>G | CA5504427 | MBL2 | c.136T>C (p.Phe46Leu) | dbSNP ExAC gnomAD v2 |
| 10 | g.52771500A>T | CA376540061 | MBL2 | c.136T>A (p.Phe46Ile) | |
| 10 | g.52771500_52771501insTACCCT | CA2563960770 | MBL2 | c.135_136insAGGGTA (p.Gly45_Phe46insArgVal) | |
| 10 | g.52771501G>A | CA469520613 | MBL2 | c.135C>T (p.Gly45=) | dbSNP |
| 10 | g.52771501G>C | CA469520614 | MBL2 | c.135C>G (p.Gly45=) | |
| 10 | g.52771501G= | CA1910259331 | MBL2 | c.135C= (p.Gly45=) | |
| 10 | g.52771501G>T | CA469520615 | MBL2 | c.135C>A (p.Gly45=) | |
| 10 | g.52771502C>A | CA376540063 | MBL2 | c.134G>T (p.Gly45Val) | |
| 10 | g.52771502C>G | CA376540064 | MBL2 | c.134G>C (p.Gly45Ala) | |
| 10 | g.52771502C>T | CA376540062 | MBL2 | c.134G>A (p.Gly45Asp) | |
| 10 | g.52771502_52771503insTCACCACGTTCGCCACGCGGGCCAGGTTCACCACGCGGGCCAGGTGCTCCGGGCACTCCGTTTACACTGAATTCCTGCACGATTTTACGGACC | CA2551880818 | MBL2 | c.134_135insGTCCGTAAAATCGTGCAGGAATTCAGTGTAAACGGAGTGCCCGGAGCACCTGGCCCGCGTGGTGAACCTGGCCCGCGTGGCGAACGTGGTGAG (p.Gly46SerfsTer10) | |
| 10 | g.52771503C>A | CA376540065 | MBL2 | c.133G>T (p.Gly45Cys) | dbSNP gnomAD v4 |
| 10 | g.52771503C= | CA1910259332 | MBL2 | c.133G= (p.Gly45=) | |
| 10 | g.52771503C>G | CA376540066 | MBL2 | c.133G>C (p.Gly45Arg) | |
| 10 | g.52771503C>T | CA5504428 | MBL2 | c.133G>A (p.Gly45Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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=) |