Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.43352752_43352852dup | CA2645224781 | MPL | c.1888_*80dup (n.1888_*80dup) c.1867_*80dup (n.1867_*80dup) c.2059_*80dup (n.2059_*80dup) | gnomAD v4 |
1 | g.43352768C>A | CA339995079 | MPL | c.1904C>A (p.Pro635His) c.1883C>A (p.Pro628His) c.2075C>A (p.Pro692His) | |
1 | g.43352768C= | CA1141580753 | MPL | c.1904C= (p.Pro635=) c.1883C= (p.Pro628=) c.2075C= (p.Pro692=) | |
1 | g.43352768C>G | CA339995083 | MPL | c.1904C>G (p.Pro635Arg) c.1883C>G (p.Pro628Arg) c.2075C>G (p.Pro692Arg) | |
1 | g.43352768C>T | CA123777 | MPL | c.1904C>T (p.Pro635Leu) c.1883C>T (p.Pro628Leu) c.2075C>T (p.Pro692Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.43352769T>A | CA417428481 | MPL | c.1905T>A (p.Pro635=) c.1884T>A (p.Pro628=) c.2076T>A (p.Pro692=) | |
1 | g.43352769T>C | CA417428482 | MPL | c.1905T>C (p.Pro635=) c.1884T>C (p.Pro628=) c.2076T>C (p.Pro692=) | ClinVar |
1 | g.43352769T>G | CA417428483 | MPL | c.1905T>G (p.Pro635=) c.1884T>G (p.Pro628=) c.2076T>G (p.Pro692=) | |
1 | g.43352770T>A | CA339995085 | MPL | c.1906T>A (p.Ter636Arg) c.1885T>A (p.Ter629Arg) c.2077T>A (p.Ter693Arg) | |
1 | g.43352770T>C | CA339995090 | MPL | c.1906T>C (p.Ter636Arg) c.1885T>C (p.Ter629Arg) c.2077T>C (p.Ter693Arg) | gnomAD v4 |
1 | g.43352770T>G | CA339995087 | MPL | c.1906T>G (p.Ter636Gly) c.1885T>G (p.Ter629Gly) c.2077T>G (p.Ter693Gly) | |
1 | g.43352771G>A | CA417428484 | MPL | c.1907G>A (p.Ter636=) c.1886G>A (p.Ter629=) c.2078G>A (p.Ter693=) | |
1 | g.43352771G>C | CA339995095 | MPL | c.1907G>C (p.Ter636Ser) c.1886G>C (p.Ter629Ser) c.2078G>C (p.Ter693Ser) | |
1 | g.43352771G>T | CA339995096 | MPL | c.1907G>T (p.Ter636Leu) c.1886G>T (p.Ter629Leu) c.2078G>T (p.Ter693Leu) | |
1 | g.43352772A= | CA1165581417 | MPL | c.1908A= (p.Ter636=) c.1887A= (p.Ter629=) c.2079A= (p.Ter693=) | |
1 | g.43352772A>C | CA339995099 | MPL | c.1908A>C (p.Ter636Cys) c.1887A>C (p.Ter629Cys) c.2079A>C (p.Ter693Cys) | |
1 | g.43352772A>G | CA807043 | MPL | c.1908A>G (p.Ter636Trp) c.1887A>G (p.Ter629Trp) c.2079A>G (p.Ter693Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43352772A>T | CA339995101 | MPL | c.1908A>T (p.Ter636Cys) c.1887A>T (p.Ter629Cys) c.2079A>T (p.Ter693Cys) | dbSNP |
1 | g.43352773G>A | CA2645224812 | MPL | c.*1G>A (n.*1G>A) | gnomAD v4 |
1 | g.43352774_43352775delinsGA | CA1165581418 | MPL | c.*2_*3delinsGA (n.*2_*3delinsGA) | |
1 | g.43352775del | CA1001099654 | MPL | c.*3del (n.*3del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.43352775A>G | CA2695812950 | MPL | c.*3A>G (n.*3A>G) | dbSNP |
1 | g.43352775A>T | CA2645224816 | MPL | c.*3A>T (n.*3A>T) | gnomAD v4 |
1 | g.43352776C>A | CA2695560117 | MPL | c.*4C>A (n.*4C>A) | dbSNP |
1 | g.43352776C= | CA1165581419 | MPL | c.*4C= (n.*4C=) | |
1 | g.43352776C>G | CA2645224820 | MPL | c.*4C>G (n.*4C>G) | gnomAD v4 |
1 | g.43352776C>T | CA522806117 | MPL | c.*4C>T (n.*4C>T) | dbSNP gnomAD v2 |
1 | g.43352778G>A | CA1165581421 | MPL | c.*6G>A (n.*6G>A) | dbSNP |
1 | g.43352778G= | CA1165581420 | MPL | c.*6G= (n.*6G=) | |
1 | g.43352779G>A | CA21616524 | MPL | c.*7G>A (n.*7G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.43352779G= | CA1146449319 | MPL | c.*7G= (n.*7G=) | |
1 | g.43352779G>T | CA522806118 | MPL | c.*7G>T (n.*7G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.43352780C>A | CA1165581423 | MPL | c.*8C>A (n.*8C>A) | dbSNP |
1 | g.43352780C= | CA1165581422 | MPL | c.*8C= (n.*8C=) | |
1 | g.43352781T>A | CA1165581425 | MPL | c.*9T>A (n.*9T>A) | dbSNP gnomAD v4 |
1 | g.43352781T>C | CA2695564504 | MPL | c.*9T>C (n.*9T>C) | dbSNP |
1 | g.43352781T= | CA1165581424 | MPL | c.*9T= (n.*9T=) | |
1 | g.43352782C>A | CA2645224829 | MPL | c.*10C>A (n.*10C>A) | gnomAD v4 |
1 | g.43352782C= | CA1165581426 | MPL | c.*10C= (n.*10C=) | |
1 | g.43352782C>T | CA21616531 | MPL | c.*10C>T (n.*10C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.43352783C>T | CA2574340896 | MPL | c.*11C>T (n.*11C>T) | |
1 | g.43352785C>T | CA2645224835 | MPL | c.*13C>T (n.*13C>T) | gnomAD v4 |
1 | g.43352786A>C | CA2695812953 | MPL | c.*14A>C (n.*14A>C) | dbSNP |
1 | g.43352787C= | CA1143823384 | MPL | c.*15C= (n.*15C=) | |
1 | g.43352787C>T | CA807044 | MPL | c.*15C>T (n.*15C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43352788T>G | CA807045 | MPL | c.*16T>G (n.*16T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.43352788T= | CA1144044792 | MPL | c.*16T= (n.*16T=) | |
1 | g.43352789C>A | CA2743378029 | MPL | c.*17C>A (n.*17C>A) | |
1 | g.43352789C>G | CA2695812982 | MPL | c.*17C>G (n.*17C>G) | dbSNP |
1 | g.43352790C= | CA1147465227 | MPL | c.*18C= (n.*18C=) |