Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.52771575C>A | CA376540216 | MBL2 | c.61G>T (p.Glu21Ter) | COSMIC |
10 | g.52771575C>G | CA376540217 | MBL2 | c.61G>C (p.Glu21Gln) | |
10 | g.52771575C>T | CA376540218 | MBL2 | c.61G>A (p.Glu21Lys) | |
10 | g.52771576T>A | CA469520661 | MBL2 | c.60A>T (p.Ser20=) | |
10 | g.52771576T>C | CA469520662 | MBL2 | c.60A>G (p.Ser20=) | gnomAD v4 |
10 | g.52771576T>G | CA469520663 | MBL2 | c.60A>C (p.Ser20=) | |
10 | g.52771577G>A | CA376540221 | MBL2 | c.59C>T (p.Ser20Leu) | gnomAD v4 |
10 | g.52771577G>C | CA376540219 | MBL2 | c.59C>G (p.Ser20Ter) | |
10 | g.52771577G= | CA1910259376 | MBL2 | c.59C= (p.Ser20=) | |
10 | g.52771577G>T | CA376540220 | MBL2 | c.59C>A (p.Ser20Ter) | |
10 | g.52771578A>C | CA376540222 | MBL2 | c.58T>G (p.Ser20Ala) | |
10 | g.52771578A>G | CA376540223 | MBL2 | c.58T>C (p.Ser20Pro) | |
10 | g.52771578A>T | CA376540224 | MBL2 | c.58T>A (p.Ser20Thr) | |
10 | g.52771578_52771585dup | CA918675976 | MBL2 | c.51_58dup (p.Ser20CysfsTer7) | dbSNP gnomAD v4 |
10 | g.52771579G>A | CA469520664 | MBL2 | c.57C>T (p.Tyr19=) | |
10 | g.52771579G>C | CA376540225 | MBL2 | c.57C>G (p.Tyr19Ter) | |
10 | g.52771579G>T | CA376540226 | MBL2 | c.57C>A (p.Tyr19Ter) | gnomAD v4 |
10 | g.52771580T>A | CA376540227 | MBL2 | c.56A>T (p.Tyr19Phe) | |
10 | g.52771580T>C | CA376540228 | MBL2 | c.56A>G (p.Tyr19Cys) | |
10 | g.52771580T>G | CA376540229 | MBL2 | c.56A>C (p.Tyr19Ser) | gnomAD v4 |
10 | g.52771581A>C | CA376540230 | MBL2 | c.55T>G (p.Tyr19Asp) | |
10 | g.52771581A>G | CA376540231 | MBL2 | c.55T>C (p.Tyr19His) | |
10 | g.52771581A>T | CA376540232 | MBL2 | c.55T>A (p.Tyr19Asn) | |
10 | g.52771582A>C | CA469520667 | MBL2 | c.54T>G (p.Ser18=) | |
10 | g.52771582A>G | CA469520665 | MBL2 | c.54T>C (p.Ser18=) | |
10 | g.52771582A>T | CA469520666 | MBL2 | c.54T>A (p.Ser18=) | |
10 | g.52771583G>A | CA376540235 | MBL2 | c.53C>T (p.Ser18Phe) | |
10 | g.52771583G>C | CA376540234 | MBL2 | c.53C>G (p.Ser18Cys) | |
10 | g.52771583G>T | CA376540233 | MBL2 | c.53C>A (p.Ser18Tyr) | |
10 | g.52771584A>C | CA376540236 | MBL2 | c.52T>G (p.Ser18Ala) | |
10 | g.52771584A>G | CA376540238 | MBL2 | c.52T>C (p.Ser18Pro) | gnomAD v4 |
10 | g.52771584A>T | CA376540237 | MBL2 | c.52T>A (p.Ser18Thr) | |
10 | g.52771585C>A | CA469520669 | MBL2 | c.51G>T (p.Ala17=) | |
10 | g.52771585C= | CA1910259377 | MBL2 | c.51G= (p.Ala17=) | |
10 | g.52771585C>G | CA469520670 | MBL2 | c.51G>C (p.Ala17=) | |
10 | g.52771585C>T | CA5504444 | MBL2 | c.51G>A (p.Ala17=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52771586G>A | CA5504445 | MBL2 | c.50C>T (p.Ala17Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.52771586G>C | CA376540239 | MBL2 | c.50C>G (p.Ala17Gly) | |
10 | g.52771586G= | CA1910259378 | MBL2 | c.50C= (p.Ala17=) | |
10 | g.52771586G>T | CA376540240 | MBL2 | c.50C>A (p.Ala17Glu) | dbSNP |
10 | g.52771587C>A | CA376540241 | MBL2 | c.49G>T (p.Ala17Ser) | |
10 | g.52771587C= | CA1910259379 | MBL2 | c.49G= (p.Ala17=) | |
10 | g.52771587C>G | CA376540242 | MBL2 | c.49G>C (p.Ala17Pro) | |
10 | g.52771587C>T | CA376540243 | MBL2 | c.49G>A (p.Ala17Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.52771588T>A | CA469520672 | MBL2 | c.48A>T (p.Ala16=) | COSMIC |
10 | g.52771588T>C | CA5504446 | MBL2 | c.48A>G (p.Ala16=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.52771588T>G | CA469520673 | MBL2 | c.48A>C (p.Ala16=) | |
10 | g.52771588T= | CA1910259380 | MBL2 | c.48A= (p.Ala16=) | |
10 | g.52771589G>A | CA376540244 | MBL2 | c.47C>T (p.Ala16Val) | |
10 | g.52771589G>C | CA376540245 | MBL2 | c.47C>G (p.Ala16Gly) |