| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.52771482G>A | CA123885 | MBL2 | c.154C>T (p.Arg52Cys) | ClinVar dbSNP ExAC gnomAD |
| 10 | g.52771482G>C | CA376540020 | MBL2 | c.154C>G (p.Arg52Gly) | |
| 10 | g.52771482G= | CA1910259320 | MBL2 | c.154C= (p.Arg52=) | |
| 10 | g.52771482G>T | CA376540021 | MBL2 | c.154C>A (p.Arg52Ser) | |
| 10 | g.52771482_52771483delinsGC | CA1910259321 | MBL2 | c.153_154delinsGC (p.Gly51=) | |
| 10 | g.52771483C>A | CA469520603 | MBL2 | c.153G>T (p.Gly51=) | |
| 10 | g.52771483C>G | CA469520601 | MBL2 | c.153G>C (p.Gly51=) | |
| 10 | g.52771483C>T | CA469520602 | MBL2 | c.153G>A (p.Gly51=) | |
| 10 | g.52771485del | CA1910259322 | MBL2 | c.153del (p.Arg52ValfsTer?) | dbSNP |
| 10 | g.52771484C>A | CA376540022 | MBL2 | c.152G>T (p.Gly51Val) | |
| 10 | g.52771484C>G | CA376540023 | MBL2 | c.152G>C (p.Gly51Ala) | |
| 10 | g.52771484C>T | CA376540024 | MBL2 | c.152G>A (p.Gly51Glu) | COSMIC |
| 10 | g.52771485C>A | CA376540025 | MBL2 | c.151G>T (p.Gly51Trp) | |
| 10 | g.52771485C= | CA1910259323 | MBL2 | c.151G= (p.Gly51=) | |
| 10 | g.52771485C>G | CA376540026 | MBL2 | c.151G>C (p.Gly51Arg) | |
| 10 | g.52771485C>T | CA207457369 | MBL2 | c.151G>A (p.Gly51Arg) | dbSNP |
| 10 | g.52771486A= | CA1910259324 | MBL2 | c.150T= (p.Asp50=) | |
| 10 | g.52771486A>C | CA376540027 | MBL2 | c.150T>G (p.Asp50Glu) | |
| 10 | g.52771486A>G | CA5504425 | MBL2 | c.150T>C (p.Asp50=) | dbSNP ExAC gnomAD |
| 10 | g.52771486A>T | CA376540028 | MBL2 | c.150T>A (p.Asp50Glu) | |
| 10 | g.52771487T>A | CA376540029 | MBL2 | c.149A>T (p.Asp50Val) | |
| 10 | g.52771487T>C | CA376540030 | MBL2 | c.149A>G (p.Asp50Gly) | |
| 10 | g.52771487T>G | CA376540031 | MBL2 | c.149A>C (p.Asp50Ala) | |
| 10 | g.52771488C>A | CA376540034 | MBL2 | c.148G>T (p.Asp50Tyr) | |
| 10 | g.52771488C>G | CA376540033 | MBL2 | c.148G>C (p.Asp50His) | |
| 10 | g.52771488C>T | CA376540032 | MBL2 | c.148G>A (p.Asp50Asn) | |
| 10 | g.52771489T>A | CA376540035 | MBL2 | c.147A>T (p.Lys49Asn) | |
| 10 | g.52771489T>C | CA469520604 | MBL2 | c.147A>G (p.Lys49=) | |
| 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=) | gnomAD |
| 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) | |
| 10 | g.52771494del | CA666360510 | MBL2 | c.143del (p.Gly48AlafsTer?) | dbSNP |
| 10 | g.52771494C>A | CA376540046 | MBL2 | c.142G>T (p.Gly48Cys) | |
| 10 | g.52771494C>G | CA376540047 | MBL2 | c.142G>C (p.Gly48Arg) |