Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.43337942G>A | CA522806060 | MPL | c.79+15G>A (n.79+15G>A) n.79+15G>A c.94G>A (p.Gly32Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.43337942G>C | CA2740090647 | MPL | c.79+15G>C (n.79+15G>C) n.79+15G>C c.94G>C (p.Gly32Arg) | ClinVar |
1 | g.43337942G= | CA1165575813 | MPL | c.79+15G= (n.79+15G=) n.79+15G= c.94G= (p.Gly32=) | |
1 | g.43337943G>A | CA806555 | MPL | c.79+16G>A (n.79+16G>A) n.79+16G>A c.95G>A (p.Gly32Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43337943G= | CA1146322615 | MPL | c.79+16G= (n.79+16G=) n.79+16G= c.95G= (p.Gly32=) | |
1 | g.43337943G>T | CA2740090648 | MPL | c.79+16G>T (n.79+16G>T) n.79+16G>T c.95G>T (p.Gly32Val) | ClinVar |
1 | g.43337944G>A | CA2740090649 | MPL | c.79+17G>A (n.79+17G>A) n.79+17G>A c.96G>A (p.Gly32=) | ClinVar |
1 | g.43337944G= | CA1165575814 | MPL | c.79+17G= (n.79+17G=) n.79+17G= c.96G= (p.Gly32=) | |
1 | g.43337944G>T | CA806556 | MPL | c.79+17G>T (n.79+17G>T) n.79+17G>T c.96G>T (p.Gly32=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.43337945T>C | CA2740090650 | MPL | c.79+18T>C (n.79+18T>C) n.79+18T>C c.97T>C (p.Trp33Arg) | ClinVar |
1 | g.43337945T>G | CA522806061 | MPL | c.79+18T>G (n.79+18T>G) n.79+18T>G c.97T>G (p.Trp33Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43337945T= | CA1165575815 | MPL | c.79+18T= (n.79+18T=) n.79+18T= c.97T= (p.Trp33=) | |
1 | g.43337946G>A | CA2580062776 | MPL | c.79+19G>A (n.79+19G>A) n.79+19G>A c.98G>A (p.Trp33Ter) | ClinVar gnomAD v4 |
1 | g.43337947G>A | CA806557 | MPL | c.79+20G>A (n.79+20G>A) n.79+20G>A c.99G>A (p.Trp33Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43337947G= | CA1148269045 | MPL | c.79+20G= (n.79+20G=) n.79+20G= c.99G= (p.Trp33=) | |
1 | g.43337950A>C | CA2645221719 | MPL | c.79+23A>C (n.79+23A>C) n.79+23A>C c.102A>C (p.Arg34Ser) | gnomAD v4 |
1 | g.43337950A>T | CA646326482 | MPL | c.79+23A>T (n.79+23A>T) n.79+23A>T c.102A>T (p.Arg34Ser) | COSMIC |
1 | g.43337952C>T | CA2645221721 | MPL | c.79+25C>T (n.79+25C>T) n.79+25C>T c.104C>T (p.Ser35Leu) | gnomAD v4 |
1 | g.43337955C= | CA1165575816 | MPL | c.79+28C= (n.79+28C=) n.79+28C= c.107C= (p.Pro36=) | |
1 | g.43337955C>T | CA522806062 | MPL | c.79+28C>T (n.79+28C>T) n.79+28C>T c.107C>T (p.Pro36Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.43337956T>C | CA2566302784 | MPL | c.79+29T>C (n.79+29T>C) n.79+29T>C c.108T>C (p.Pro36=) | |
1 | g.43337957A= | CA1143738416 | MPL | c.79+30A= (n.79+30A=) n.79+30A= c.109A= (p.Met37=) | |
1 | g.43337957A>G | CA2574340705 | MPL | c.79+30A>G (n.79+30A>G) n.79+30A>G c.109A>G (p.Met37Val) | |
1 | g.43337957A>T | CA806558 | MPL | c.79+30A>T (n.79+30A>T) n.79+30A>T c.109A>T (p.Met37Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43337959G>A | CA522806063 | MPL | c.79+32G>A (n.79+32G>A) n.79+32G>A c.111G>A (p.Met37Ile) | dbSNP gnomAD v2 |
1 | g.43337959G= | CA1165575817 | MPL | c.79+32G= (n.79+32G=) n.79+32G= c.111G= (p.Met37=) | |
1 | g.43337959G>T | CA806559 | MPL | c.79+32G>T (n.79+32G>T) n.79+32G>T c.111G>T (p.Met37Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.43337960C>A | CA2645221725 | MPL | c.79+33C>A (n.79+33C>A) n.79+33C>A c.112C>A (p.Pro38Thr) | dbSNP gnomAD v4 |
1 | g.43337960C= | CA1165575818 | MPL | c.79+33C= (n.79+33C=) n.79+33C= c.112C= (p.Pro38=) | |
1 | g.43337960C>T | CA1165575819 | MPL | c.79+33C>T (n.79+33C>T) n.79+33C>T c.112C>T (p.Pro38Ser) | dbSNP gnomAD v4 |
1 | g.43337961C>A | CA2695811062 | MPL | c.79+34C>A (n.79+34C>A) n.79+34C>A c.113C>A (p.Pro38His) | dbSNP |
1 | g.43337961_43337965del | CA2645221726 | MPL | c.79+34_79+38del (n.79+34_79+38del) n.79+34_79+38del c.113_117del (p.Pro38GlnfsTer16) | gnomAD v4 |
1 | g.43337962C= | CA1165575820 | MPL | c.79+35C= (n.79+35C=) n.79+35C= c.114C= (p.Pro38=) | |
1 | g.43337962C>T | CA522806064 | MPL | c.79+35C>T (n.79+35C>T) n.79+35C>T c.114C>T (p.Pro38=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43337964G>A | CA2695811169 | MPL | c.79+37G>A (n.79+37G>A) n.79+37G>A c.116G>A (p.Arg39Lys) | dbSNP |
1 | g.43337965del | CA2645221727 | MPL | c.79+38del (n.79+38del) n.79+38del c.117del (p.Lys40ArgfsTer7) | gnomAD v4 |
1 | g.43337965G>C | CA2695811233 | MPL | c.79+38G>C (n.79+38G>C) n.79+38G>C c.117G>C (p.Arg39Ser) | dbSNP |
1 | g.43337969A= | CA1147833418 | MPL | c.79+42A= (n.79+42A=) n.79+42A= c.121A= (p.Arg41=) | |
1 | g.43337969A>G | CA806560 | MPL | c.79+42A>G (n.79+42A>G) n.79+42A>G c.121A>G (p.Arg41Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43337970G>C | CA806561 | MPL | c.79+43G>C (n.79+43G>C) n.79+43G>C c.122G>C (p.Arg41Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43337970G= | CA1145458384 | MPL | c.79+43G= (n.79+43G=) n.79+43G= c.122G= (p.Arg41=) | |
1 | g.43337971G>A | CA2645221730 | MPL | c.79+44G>A (n.79+44G>A) n.79+44G>A c.123G>A (p.Arg41=) | gnomAD v4 |
1 | g.43337972G>A | CA2645221732 | MPL | c.79+45G>A (n.79+45G>A) n.79+45G>A c.124G>A (p.Glu42Lys) | gnomAD v4 |
1 | g.43337973A= | CA1165575821 | MPL | c.79+46A= (n.79+46A=) n.79+46A= c.125A= (p.Glu42=) | |
1 | g.43337973A>C | CA522806065 | MPL | c.79+46A>C (n.79+46A>C) n.79+46A>C c.125A>C (p.Glu42Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43337973A>G | CA806562 | MPL | c.79+46A>G (n.79+46A>G) n.79+46A>G c.125A>G (p.Glu42Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43337973A>T | CA2695535471 | MPL | c.79+46A>T (n.79+46A>T) n.79+46A>T c.125A>T (p.Glu42Val) | dbSNP |
1 | g.43337974G>A | CA522806066 | MPL | c.79+47G>A (n.79+47G>A) n.79+47G>A c.126G>A (p.Glu42=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.43337974G= | CA1165575822 | MPL | c.79+47G= (n.79+47G=) n.79+47G= c.126G= (p.Glu42=) | |
1 | g.43337974G>T | CA21606782 | MPL | c.79+47G>T (n.79+47G>T) n.79+47G>T c.126G>T (p.Glu42Asp) | dbSNP gnomAD v3 gnomAD v4 |