Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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=) | |
1 | g.43337990C>G | CA1001097282 | MPL | c.79+63C>G (n.79+63C>G) n.79+63C>G c.142C>G (p.Gln48Glu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.43337990C>T | CA2695581050 | MPL | c.79+63C>T (n.79+63C>T) n.79+63C>T c.142C>T (p.Gln48Ter) | dbSNP |
1 | g.43337991A= | CA1165575828 | MPL | c.79+64A= (n.79+64A=) n.79+64A= c.143A= (p.Gln48=) | |
1 | g.43337991A>G | CA522806068 | MPL | c.79+64A>G (n.79+64A>G) n.79+64A>G c.143A>G (p.Gln48Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43337992G>C | CA2645221742 | MPL | c.79+65G>C (n.79+65G>C) n.79+65G>C c.144G>C (p.Gln48His) | gnomAD v4 |
1 | g.43337994dup | CA2645221741 | MPL | c.79+67dup (n.79+67dup) n.79+67dup c.146dup (p.Gly51ArgfsTer5) | gnomAD v4 |
1 | g.43337994G>A | CA1165575830 | MPL | c.79+67G>A (n.79+67G>A) n.79+67G>A c.146G>A (p.Gly49Asp) | dbSNP gnomAD v4 |
1 | g.43337994G= | CA1165575829 | MPL | c.79+67G= (n.79+67G=) n.79+67G= c.146G= (p.Gly49=) | |
1 | g.43337995C>A | CA2645221743 | MPL | c.79+68C>A (n.79+68C>A) n.79+68C>A c.147C>A (p.Gly49=) | gnomAD v4 |
1 | g.43337995C>T | CA2645221744 | MPL | c.79+68C>T (n.79+68C>T) n.79+68C>T c.147C>T (p.Gly49=) | gnomAD v4 |
1 | g.43337996C>T | CA2645221745 | MPL | c.79+69C>T (n.79+69C>T) n.79+69C>T c.148C>T (p.Pro50Ser) | gnomAD v4 |
1 | g.43337998C>A | CA2574340708 | MPL | c.79+71C>A (n.79+71C>A) n.79+71C>A c.150C>A (p.Pro50=) | gnomAD v4 |
1 | g.43337998C= | CA1147005155 | MPL | c.79+71C= (n.79+71C=) n.79+71C= c.150C= (p.Pro50=) | |
1 | g.43337998C>G | CA2645221746 | MPL | c.79+71C>G (n.79+71C>G) n.79+71C>G c.150C>G (p.Pro50=) | dbSNP gnomAD v4 |
1 | g.43337998C>T | CA21606789 | MPL | c.79+71C>T (n.79+71C>T) n.79+71C>T c.150C>T (p.Pro50=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43337998_43337999insA | CA21606791 | MPL | c.79+71_79+72insA (n.79+71_79+72insA) n.79+71_79+72insA c.150_151insA (p.Gly51ArgfsTer5) | dbSNP |
1 | g.43337999G>A | CA21606792 | MPL | c.79+72G>A (n.79+72G>A) n.79+72G>A c.151G>A (p.Gly51Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |