Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.43338705_43338707delinsTTT | CA1148224238 | MPL | c.376_378delinsTTT (p.Phe126=) c.355_357delinsTTT (p.Phe119=) n.376_378delinsTTT c.547_549delinsTTT (p.Phe183=) | |
1 | g.43338707dup | CA1165576104 | MPL | c.378dup (p.Val127CysfsTer?) c.357dup (p.Val120CysfsTer?) n.378dup c.549dup (p.Val184CysfsTer?) | dbSNP |
1 | g.43338707del | CA160817 | MPL | c.378del (p.Phe126LeufsTer5) c.357del (p.Phe119LeufsTer5) n.378del c.549del (p.Phe183LeufsTer5) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43338707T>A | CA339974044 | MPL | c.378T>A (p.Phe126Leu) c.357T>A (p.Phe119Leu) n.378T>A c.549T>A (p.Phe183Leu) | |
1 | g.43338707T>C | CA417417977 | MPL | c.378T>C (p.Phe126=) c.357T>C (p.Phe119=) n.378T>C c.549T>C (p.Phe183=) | |
1 | g.43338707T>G | CA339974046 | MPL | c.378T>G (p.Phe126Leu) c.357T>G (p.Phe119Leu) n.378T>G c.549T>G (p.Phe183Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.43338707T= | CA1165576105 | MPL | c.378T= (p.Phe126=) c.357T= (p.Phe119=) n.378T= c.549T= (p.Phe183=) | |
1 | g.43338708G>A | CA339974050 | MPL | c.379G>A (p.Val127Met) c.358G>A (p.Val120Met) n.379G>A c.550G>A (p.Val184Met) | |
1 | g.43338708G>C | CA339974053 | MPL | c.379G>C (p.Val127Leu) c.358G>C (p.Val120Leu) n.379G>C c.550G>C (p.Val184Leu) | |
1 | g.43338708G>T | CA339974056 | MPL | c.379G>T (p.Val127Leu) c.358G>T (p.Val120Leu) n.379G>T c.550G>T (p.Val184Leu) | |
1 | g.43338709T>A | CA339974059 | MPL | c.380T>A (p.Val127Glu) c.359T>A (p.Val120Glu) n.380T>A c.551T>A (p.Val184Glu) | |
1 | g.43338709T>C | CA339974062 | MPL | c.380T>C (p.Val127Ala) c.359T>C (p.Val120Ala) n.380T>C c.551T>C (p.Val184Ala) | |
1 | g.43338709T>G | CA339974064 | MPL | c.380T>G (p.Val127Gly) c.359T>G (p.Val120Gly) n.380T>G c.551T>G (p.Val184Gly) | |
1 | g.43338710G>A | CA417417995 | MPL | c.381G>A (p.Val127=) c.360G>A (p.Val120=) n.381G>A c.552G>A (p.Val184=) | |
1 | g.43338710G>C | CA417417997 | MPL | c.381G>C (p.Val127=) c.360G>C (p.Val120=) n.381G>C c.552G>C (p.Val184=) | |
1 | g.43338710G>T | CA417418000 | MPL | c.381G>T (p.Val127=) c.360G>T (p.Val120=) n.381G>T c.552G>T (p.Val184=) | gnomAD v4 |
1 | g.43338711G>A | CA339974070 | MPL | c.382G>A (p.Asp128Asn) c.361G>A (p.Asp121Asn) n.382G>A c.553G>A (p.Asp185Asn) | dbSNP |
1 | g.43338711G>C | CA339974073 | MPL | c.382G>C (p.Asp128His) c.361G>C (p.Asp121His) n.382G>C c.553G>C (p.Asp185His) | |
1 | g.43338711G= | CA1143460260 | MPL | c.382G= (p.Asp128=) c.361G= (p.Asp121=) n.382G= c.553G= (p.Asp185=) | |
1 | g.43338711G>T | CA806644 | MPL | c.382G>T (p.Asp128Tyr) c.361G>T (p.Asp121Tyr) n.382G>T c.553G>T (p.Asp185Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43338712A>C | CA339974078 | MPL | c.383A>C (p.Asp128Ala) c.362A>C (p.Asp121Ala) n.383A>C c.554A>C (p.Asp185Ala) | |
1 | g.43338712A>G | CA339974085 | MPL | c.383A>G (p.Asp128Gly) c.362A>G (p.Asp121Gly) n.383A>G c.554A>G (p.Asp185Gly) | |
1 | g.43338712A>T | CA339974081 | MPL | c.383A>T (p.Asp128Val) c.362A>T (p.Asp121Val) n.383A>T c.554A>T (p.Asp185Val) | |
1 | g.43338713C>A | CA339974089 | MPL | c.384C>A (p.Asp128Glu) c.363C>A (p.Asp121Glu) n.384C>A c.555C>A (p.Asp185Glu) | |
1 | g.43338713C>G | CA339974091 | MPL | c.384C>G (p.Asp128Glu) c.363C>G (p.Asp121Glu) n.384C>G c.555C>G (p.Asp185Glu) | gnomAD v4 |
1 | g.43338713C>T | CA417418021 | MPL | c.384C>T (p.Asp128=) c.363C>T (p.Asp121=) n.384C>T c.555C>T (p.Asp185=) | |
1 | g.43338714A>C | CA339974099 | MPL | c.385A>C (p.Ser129Arg) c.364A>C (p.Ser122Arg) n.385A>C c.556A>C (p.Ser186Arg) | |
1 | g.43338714A>G | CA339974101 | MPL | c.385A>G (p.Ser129Gly) c.364A>G (p.Ser122Gly) n.385A>G c.556A>G (p.Ser186Gly) | |
1 | g.43338714A>T | CA339974102 | MPL | c.385A>T (p.Ser129Cys) c.364A>T (p.Ser122Cys) n.385A>T c.556A>T (p.Ser186Cys) | |
1 | g.43338715G>A | CA339974106 | MPL | c.386G>A (p.Ser129Asn) c.365G>A (p.Ser122Asn) n.386G>A c.557G>A (p.Ser186Asn) | dbSNP |
1 | g.43338715G>C | CA339974109 | MPL | c.386G>C (p.Ser129Thr) c.365G>C (p.Ser122Thr) n.386G>C c.557G>C (p.Ser186Thr) | gnomAD v4 |
1 | g.43338715G>T | CA339974111 | MPL | c.386G>T (p.Ser129Ile) c.365G>T (p.Ser122Ile) n.386G>T c.557G>T (p.Ser186Ile) | |
1 | g.43338717_43338718del | CA2740090653 | MPL | c.388_389del (p.Val130ArgfsTer?) c.367_368del (p.Val123ArgfsTer?) n.388_389del c.559_560del (p.Val187ArgfsTer?) | ClinVar |
1 | g.43338716T>A | CA339974114 | MPL | c.387T>A (p.Ser129Arg) c.366T>A (p.Ser122Arg) n.387T>A c.558T>A (p.Ser186Arg) | |
1 | g.43338716T>C | CA417418049 | MPL | c.387T>C (p.Ser129=) c.366T>C (p.Ser122=) n.387T>C c.558T>C (p.Ser186=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.43338716T>G | CA339974116 | MPL | c.387T>G (p.Ser129Arg) c.366T>G (p.Ser122Arg) n.387T>G c.558T>G (p.Ser186Arg) | |
1 | g.43338716T= | CA1165576106 | MPL | c.387T= (p.Ser129=) c.366T= (p.Ser122=) n.387T= c.558T= (p.Ser186=) | |
1 | g.43338717G>A | CA339974119 | MPL | c.388G>A (p.Val130Ile) c.367G>A (p.Val123Ile) n.388G>A c.559G>A (p.Val187Ile) | dbSNP |
1 | g.43338717G>C | CA339974121 | MPL | c.388G>C (p.Val130Leu) c.367G>C (p.Val123Leu) n.388G>C c.559G>C (p.Val187Leu) | |
1 | g.43338717G>T | CA339974123 | MPL | c.388G>T (p.Val130Leu) c.367G>T (p.Val123Leu) n.388G>T c.559G>T (p.Val187Leu) | |
1 | g.43338718T>A | CA339974126 | MPL | c.389T>A (p.Val130Glu) c.368T>A (p.Val123Glu) n.389T>A c.560T>A (p.Val187Glu) | |
1 | g.43338718T>C | CA339974130 | MPL | c.389T>C (p.Val130Ala) c.368T>C (p.Val123Ala) n.389T>C c.560T>C (p.Val187Ala) | |
1 | g.43338718T>G | CA339974129 | MPL | c.389T>G (p.Val130Gly) c.368T>G (p.Val123Gly) n.389T>G c.560T>G (p.Val187Gly) | |
1 | g.43338719A= | CA1165576107 | MPL | c.390A= (p.Val130=) c.369A= (p.Val123=) n.390A= c.561A= (p.Val187=) | |
1 | g.43338719A>C | CA417418062 | MPL | c.390A>C (p.Val130=) c.369A>C (p.Val123=) n.390A>C c.561A>C (p.Val187=) | |
1 | g.43338719A>G | CA417418064 | MPL | c.390A>G (p.Val130=) c.369A>G (p.Val123=) n.390A>G c.561A>G (p.Val187=) | |
1 | g.43338719A>T | CA417418067 | MPL | c.390A>T (p.Val130=) c.369A>T (p.Val123=) n.390A>T c.561A>T (p.Val187=) | dbSNP |
1 | g.43338720G>A | CA339974135 | MPL | c.391G>A (p.Gly131Ser) c.370G>A (p.Gly124Ser) n.391G>A c.562G>A (p.Gly188Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43338720G>C | CA806645 | MPL | c.391G>C (p.Gly131Arg) c.370G>C (p.Gly124Arg) n.391G>C c.562G>C (p.Gly188Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.43338720G= | CA1165576108 | MPL | c.391G= (p.Gly131=) c.370G= (p.Gly124=) n.391G= c.562G= (p.Gly188=) |