Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
1 | g.43337975C>A | CA2645221734 | MPL | c.79+48C>A (n.79+48C>A) n.79+48C>A c.127C>A (p.Pro43Thr) | gnomAD v4 |
1 | g.43337975C>T | CA2695811262 | MPL | c.79+48C>T (n.79+48C>T) n.79+48C>T c.127C>T (p.Pro43Ser) | dbSNP |
1 | g.43337976C>T | CA2645221736 | MPL | c.79+49C>T (n.79+49C>T) n.79+49C>T c.128C>T (p.Pro43Leu) | gnomAD v4 |
1 | g.43337977C>G | CA2645221737 | MPL | c.79+50C>G (n.79+50C>G) n.79+50C>G c.129C>G (p.Pro43=) | gnomAD v4 |
1 | g.43337978T>C | CA2645221738 | MPL | c.79+51T>C (n.79+51T>C) n.79+51T>C c.130T>C (p.Trp44Arg) | gnomAD v4 |
1 | g.43337979G>A | CA522806067 | MPL | c.79+52G>A (n.79+52G>A) n.79+52G>A c.131G>A (p.Trp44Ter) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.43337979G= | CA1165575823 | MPL | c.79+52G= (n.79+52G=) n.79+52G= c.131G= (p.Trp44=) | |
1 | g.43337981dup | CA2574340706 | MPL | c.79+54dup (n.79+54dup) n.79+54dup c.133dup (p.Glu45GlyfsTer11) | |
1 | g.43337985T>C | CA21606785 | MPL | c.79+58T>C (n.79+58T>C) n.79+58T>C c.137T>C (p.Val46Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43337985T= | CA1165575824 | MPL | c.79+58T= (n.79+58T=) n.79+58T= c.137T= (p.Val46=) | |
1 | g.43337986G>A | CA2645221739 | MPL | c.79+59G>A (n.79+59G>A) n.79+59G>A c.138G>A (p.Val46=) | gnomAD v4 |
1 | g.43337988T>A | CA2695581048 | MPL | c.79+61T>A (n.79+61T>A) n.79+61T>A c.140T>A (p.Met47Lys) | dbSNP |
1 | g.43337988T>G | CA1165575826 | MPL | c.79+61T>G (n.79+61T>G) n.79+61T>G c.140T>G (p.Met47Arg) | dbSNP gnomAD v4 |
1 | g.43337988T= | CA1165575825 | MPL | c.79+61T= (n.79+61T=) n.79+61T= c.140T= (p.Met47=) | |
1 | g.43337989G>A | CA2645221740 | MPL | c.79+62G>A (n.79+62G>A) n.79+62G>A c.141G>A (p.Met47Ile) | dbSNP gnomAD v4 |
1 | g.43337990C>A | CA2574340707 | MPL | c.79+63C>A (n.79+63C>A) n.79+63C>A c.142C>A (p.Gln48Lys) | |
1 | g.43337990C= | CA1165575827 | MPL | c.79+63C= (n.79+63C=) n.79+63C= c.142C= (p.Gln48=) |