| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.52771489T>A | CA376540035 | MBL2 | c.147A>T (p.Lys49Asn) | |
| 10 | g.52771489T>C | CA469520604 | MBL2 | c.147A>G (p.Lys49=) | gnomAD v4 |
| 10 | g.52771489T>G | CA376540036 | MBL2 | c.147A>C (p.Lys49Asn) | |
| 10 | g.52771490T>A | CA376540037 | MBL2 | c.146A>T (p.Lys49Ile) | |
| 10 | g.52771490T>C | CA376540038 | MBL2 | c.146A>G (p.Lys49Arg) | |
| 10 | g.52771490T>G | CA376540039 | MBL2 | c.146A>C (p.Lys49Thr) | |
| 10 | g.52771491T>A | CA376540042 | MBL2 | c.145A>T (p.Lys49Ter) | |
| 10 | g.52771491T>C | CA376540041 | MBL2 | c.145A>G (p.Lys49Glu) | |
| 10 | g.52771491T>G | CA376540040 | MBL2 | c.145A>C (p.Lys49Gln) | |
| 10 | g.52771491_52771492insACCCGGTTCGCCCTGCGG | CA2527131312 | MBL2 | c.144_145insCCGCAGGGCGAACCGGGT (p.Gly48_Lys49insProGlnGlyGluProGly) | |
| 10 | g.52771491_52771492insACCCGGTTCGCCCTGCGGGCCGGGAATACCCTGCTCACCACGTTCGCCACGCGGGCCAGGCTCACCTTGTTCGCCCTTAGCGCCGGGGGTACCAGGCGTACCAGGTTCGCCCTGCGG | CA2564684123 | MBL2 | c.144_145insCCGCAGGGCGAACCTGGTACGCCTGGTACCCCCGGCGCTAAGGGCGAACAAGGTGAGCCTGGCCCGCGTGGCGAACGTGGTGAGCAGGGTATTCCCGGCCCGCAGGGCGAACCGGGT (p.Gly48_Lys49insProGlnGlyGluProGlyThrProGlyThrProGlyAlaLysGlyGluGlnGlyGluProGlyProArgGlyGluArgGlyGluGlnGlyIleProGlyProGlnGlyGluProGly) | |
| 10 | g.52771491_52771492insACCCGGTTCACCCTGCGGGCCGGGAATACCCTGCTCACCACGTTCGCCACGCGGACCAGGCTCACCTTGTTCGCCCTTAGCGCCGGGGGTACCAGGCGTACCAGGTTCACCCTGCGG | CA2537735057 | MBL2 | c.144_145insCCGCAGGGTGAACCTGGTACGCCTGGTACCCCCGGCGCTAAGGGCGAACAAGGTGAGCCTGGTCCGCGTGGCGAACGTGGTGAGCAGGGTATTCCCGGCCCGCAGGGTGAACCGGGT (p.Gly48_Lys49insProGlnGlyGluProGlyThrProGlyThrProGlyAlaLysGlyGluGlnGlyGluProGlyProArgGlyGluArgGlyGluGlnGlyIleProGlyProGlnGlyGluProGly) | |
| 10 | g.52771492G>A | CA469520605 | MBL2 | c.144C>T (p.Gly48=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.52771492G>C | CA469520606 | MBL2 | c.144C>G (p.Gly48=) | |
| 10 | g.52771492G= | CA1910259325 | MBL2 | c.144C= (p.Gly48=) | |
| 10 | g.52771492G>T | CA469520607 | MBL2 | c.144C>A (p.Gly48=) | COSMIC |
| 10 | g.52771492_52771493delinsGC | CA1910259326 | MBL2 | c.143_144delinsGC (p.Gly48=) | |
| 10 | g.52771493C>A | CA376540043 | MBL2 | c.143G>T (p.Gly48Val) | |
| 10 | g.52771493C= | CA1910259327 | MBL2 | c.143G= (p.Gly48=) | |
| 10 | g.52771493C>G | CA376540044 | MBL2 | c.143G>C (p.Gly48Ala) | |
| 10 | g.52771493C>T | CA376540045 | MBL2 | c.143G>A (p.Gly48Asp) | dbSNP |
| 10 | g.52771494del | CA666360510 | MBL2 | c.143del (p.Gly48AlafsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.52771494C>A | CA376540046 | MBL2 | c.142G>T (p.Gly48Cys) | |
| 10 | g.52771494C>G | CA376540047 | MBL2 | c.142G>C (p.Gly48Arg) | |
| 10 | g.52771494C>T | CA376540048 | MBL2 | c.142G>A (p.Gly48Ser) | |
| 10 | g.52771495del | CA2520754033 | MBL2 | c.141del (p.Gly48AlafsTer?) | |
| 10 | g.52771495T>A | CA469520608 | MBL2 | c.141A>T (p.Pro47=) | |
| 10 | g.52771495T>C | CA469520609 | MBL2 | c.141A>G (p.Pro47=) | |
| 10 | g.52771495T>G | CA469520610 | MBL2 | c.141A>C (p.Pro47=) | |
| 10 | g.52771496G>A | CA376540049 | MBL2 | c.140C>T (p.Pro47Leu) | |
| 10 | g.52771496G>C | CA376540051 | MBL2 | c.140C>G (p.Pro47Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.52771496G= | CA1910259328 | MBL2 | c.140C= (p.Pro47=) | |
| 10 | g.52771496G>T | CA376540050 | MBL2 | c.140C>A (p.Pro47Gln) | dbSNP gnomAD v4 |
| 10 | g.52771497G>A | CA376540052 | MBL2 | c.139C>T (p.Pro47Ser) | |
| 10 | g.52771497G>C | CA376540053 | MBL2 | c.139C>G (p.Pro47Ala) | |
| 10 | g.52771497G>T | CA376540054 | MBL2 | c.139C>A (p.Pro47Thr) | COSMIC |
| 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=) |