| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.43337929T>A | CA163017 | MPL | c.79+2T>A (n.79+2T>A) n.79+2T>A c.81T>A (p.Gly27=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.43337929T>C | CA339972332 | MPL | c.79+2T>C (n.79+2T>C) n.79+2T>C c.81T>C (p.Gly27=) | |
| 1 | g.43337929T>G | CA339972337 | MPL | c.79+2T>G (n.79+2T>G) n.79+2T>G c.81T>G (p.Gly27=) | |
| 1 | g.43337929T= | CA1142103834 | MPL | c.79+2T= (n.79+2T=) n.79+2T= c.81T= (p.Gly27=) | |
| 1 | g.43337930G>A | CA2645221705 | MPL | c.79+3G>A (n.79+3G>A) n.79+3G>A c.82G>A (p.Glu28Lys) | gnomAD v4 |
| 1 | g.43337931A>T | CA2645221706 | MPL | c.79+4A>T (n.79+4A>T) n.79+4A>T c.83A>T (p.Glu28Val) | gnomAD v4 |
| 1 | g.43337931_43337932delinsAG | CA1165575804 | MPL | c.79+4_79+5delinsAG (n.79+4_79+5delinsAG) n.79+4_79+5delinsAG c.83_84delinsAG (p.Glu28=) | |
| 1 | g.43337932G>A | CA2695811040 | MPL | c.79+5G>A (n.79+5G>A) n.79+5G>A c.84G>A (p.Glu28=) | dbSNP |
| 1 | g.43337932G= | CA1165575805 | MPL | c.79+5G= (n.79+5G=) n.79+5G= c.84G= (p.Glu28=) | |
| 1 | g.43337933del | CA522806058 | MPL | c.79+6del (n.79+6del) n.79+6del c.85del (p.Val29CysfsTer18) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.43337934_43337935insATGT | CA1165575806 | MPL | c.79+7_79+8insATGT (n.79+7_79+8insATGT) n.79+7_79+8insATGT c.86_87insATGT (p.His30CysfsTer27) | dbSNP |
| 1 | g.43337934T>C | CA2499214728 | MPL | c.79+7T>C (n.79+7T>C) n.79+7T>C c.86T>C (p.Val29Ala) | ClinVar dbSNP |
| 1 | g.43337935G>A | CA735989573 | MPL | c.79+8G>A (n.79+8G>A) n.79+8G>A c.87G>A (p.Val29=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.43337935G>C | CA2580062775 | MPL | c.79+8G>C (n.79+8G>C) n.79+8G>C c.87G>C (p.Val29=) | ClinVar |
| 1 | g.43337935G= | CA1165575807 | MPL | c.79+8G= (n.79+8G=) n.79+8G= c.87G= (p.Val29=) | |
| 1 | g.43337935_43337939delinsGCACA | CA1165575808 | MPL | c.79+8_79+12delinsGCACA (n.79+8_79+12delinsGCACA) n.79+8_79+12delinsGCACA c.87_91delinsGCACA (p.Val29=) | |
| 1 | g.43337935_43337936insTGGAAAGTAGCTGCTGTATGATT | CA2645221709 | MPL | c.79+8_79+9insTGGAAAGTAGCTGCTGTATGATT (n.79+8_79+9insTGGAAAGTAGCTGCTGTATGATT) n.79+8_79+9insTGGAAAGTAGCTGCTGTATGATT c.87_88insTGGAAAGTAGCTGCTGTATGATT (p.His30TrpfsTer7) | gnomAD v4 |
| 1 | g.43337936C= | CA1165575810 | MPL | c.79+9C= (n.79+9C=) n.79+9C= c.88C= (p.His30=) | |
| 1 | g.43337936C>G | CA2740090645 | MPL | c.79+9C>G (n.79+9C>G) n.79+9C>G c.88C>G (p.His30Asp) | ClinVar |
| 1 | g.43337936C>T | CA522806059 | MPL | c.79+9C>T (n.79+9C>T) n.79+9C>T c.88C>T (p.His30Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.43337936_43337939del | CA1165575809 | MPL | c.79+9_79+12del (n.79+9_79+12del) n.79+9_79+12del c.88_91del (p.His30GlufsTer16) | dbSNP |
| 1 | g.43337937A>C | CA2740090646 | MPL | c.79+10A>C (n.79+10A>C) n.79+10A>C c.89A>C (p.His30Pro) | ClinVar |
| 1 | g.43337937A>G | CA2645221711 | MPL | c.79+10A>G (n.79+10A>G) n.79+10A>G c.89A>G (p.His30Arg) | gnomAD v4 |
| 1 | g.43337938C>A | CA2695581043 | MPL | c.79+11C>A (n.79+11C>A) n.79+11C>A c.90C>A (p.His30Gln) | dbSNP |
| 1 | g.43337938C= | CA1165575811 | MPL | c.79+11C= (n.79+11C=) n.79+11C= c.90C= (p.His30=) | |
| 1 | g.43337938C>G | CA1165575812 | MPL | c.79+11C>G (n.79+11C>G) n.79+11C>G c.90C>G (p.His30Gln) | dbSNP gnomAD v4 |
| 1 | g.43337938C>T | CA2645221712 | MPL | c.79+11C>T (n.79+11C>T) n.79+11C>T c.90C>T (p.His30=) | gnomAD v4 |
| 1 | g.43337940G>A | CA2695811046 | MPL | c.79+13G>A (n.79+13G>A) n.79+13G>A c.92G>A (p.Arg31Lys) | dbSNP |
| 1 | g.43337940G>C | CA2695811052 | MPL | c.79+13G>C (n.79+13G>C) n.79+13G>C c.92G>C (p.Arg31Thr) | dbSNP |
| 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 |
| 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 |
| 1 | g.43337999G>C | CA21606793 | MPL | c.79+72G>C (n.79+72G>C) n.79+72G>C c.151G>C (p.Gly51Arg) | dbSNP |
| 1 | g.43337999G= | CA1139829221 | MPL | c.79+72G= (n.79+72G=) n.79+72G= c.151G= (p.Gly51=) | |
| 1 | g.43338000G>A | CA1001097286 | MPL | c.79+73G>A (n.79+73G>A) n.79+73G>A c.152G>A (p.Gly51Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.43338000G= | CA1165575831 | MPL | c.79+73G= (n.79+73G=) n.79+73G= c.152G= (p.Gly51=) | |
| 1 | g.43338000G>T | CA1001097287 | MPL | c.79+73G>T (n.79+73G>T) n.79+73G>T c.152G>T (p.Gly51Val) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.43338001G>A | CA2695811283 | MPL | c.79+74G>A (n.79+74G>A) n.79+74G>A c.153G>A (p.Gly51=) | dbSNP |
| 1 | g.43338001G>C | CA2645221749 | MPL | c.79+74G>C (n.79+74G>C) n.79+74G>C c.153G>C (p.Gly51=) | gnomAD v4 |
| 1 | g.43338003G>A | CA1165575832 | MPL | c.79+76G>A (n.79+76G>A) n.79+76G>A c.155G>A (p.Arg52Lys) | dbSNP |
| 1 | g.43338003G>C | CA2645221750 | MPL | c.79+76G>C (n.79+76G>C) n.79+76G>C c.155G>C (p.Arg52Thr) | gnomAD v4 |
| 1 | g.43338003G= | CA1165575833 | MPL | c.79+76G= (n.79+76G=) n.79+76G= c.155G= (p.Arg52=) | |
| 1 | g.43338006dup | CA2574340709 | MPL | c.79+79dup (n.79+79dup) n.79+79dup c.158dup (p.Gly54ArgfsTer2) | |
| 1 | g.43338005G>A | CA2695811320 | MPL | c.79+78G>A (n.79+78G>A) n.79+78G>A c.157G>A (p.Gly53Arg) | dbSNP |
| 1 | g.43338006G>C | CA1165575836 | MPL | c.79+79G>C (n.79+79G>C) n.79+79G>C c.158G>C (p.Gly53Ala) | dbSNP gnomAD v4 |
| 1 | g.43338006G= | CA1165575835 | MPL | c.79+79G= (n.79+79G=) n.79+79G= c.158G= (p.Gly53=) | |
| 1 | g.43338006_43338011delinsGAGGTA | CA1165575834 | MPL | c.79+79_79+84delinsGAGGTA (n.79+79_79+84delinsGAGGTA) n.79+79_79+84delinsGAGGTA c.158_163delinsGAGGTA (p.Gly53=) | |
| 1 | g.43338007_43338011del | CA522806069 | MPL | c.79+80_79+84del (n.79+80_79+84del) n.79+80_79+84del c.159_163del (p.Gly54SerfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.43338008G>A | CA21606795 | MPL | c.79+81G>A (n.79+81G>A) n.79+81G>A c.160G>A (p.Gly54Ser) | dbSNP gnomAD v4 |
| 1 | g.43338008G= | CA1165575837 | MPL | c.79+81G= (n.79+81G=) n.79+81G= c.160G= (p.Gly54=) | |
| 1 | g.43338009G>A | CA21606798 | MPL | c.79+82G>A (n.79+82G>A) n.79+82G>A c.161G>A (p.Gly54Asp) | dbSNP gnomAD v4 |
| 1 | g.43338009G= | CA1165575838 | MPL | c.79+82G= (n.79+82G=) n.79+82G= c.161G= (p.Gly54=) | |
| 1 | g.43338010T>C | CA2574340710 | MPL | c.79+83T>C (n.79+83T>C) n.79+83T>C c.162T>C (p.Gly54=) | gnomAD v4 |
| 1 | g.43338010T>G | CA21606805 | MPL | c.79+83T>G (n.79+83T>G) n.79+83T>G c.162T>G (p.Gly54=) | dbSNP gnomAD v4 |
| 1 | g.43338010T= | CA1165575839 | MPL | c.79+83T= (n.79+83T=) n.79+83T= c.162T= (p.Gly54=) | |
| 1 | g.43338011A>G | CA2645221754 | MPL | c.79+84A>G (n.79+84A>G) n.79+84A>G c.163A>G (p.Arg55Gly) | gnomAD v4 |
| 1 | g.43338012G>A | CA2645221757 | MPL | c.79+85G>A (n.79+85G>A) n.79+85G>A c.164G>A (p.Arg55Lys) | gnomAD v4 |
| 1 | g.43338012G>C | CA2645221758 | MPL | c.79+85G>C (n.79+85G>C) n.79+85G>C c.164G>C (p.Arg55Thr) | gnomAD v4 |
| 1 | g.43338012G= | CA1165575840 | MPL | c.79+85G= (n.79+85G=) n.79+85G= c.164G= (p.Arg55=) | |
| 1 | g.43338012G>T | CA1001097291 | MPL | c.79+85G>T (n.79+85G>T) n.79+85G>T c.164G>T (p.Arg55Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.43338013A= | CA1165575841 | MPL | c.80-86A= (n.80-86A=) c.79+86A= (n.79+86A=) n.80-86A= c.165A= (p.Arg55=) | |
| 1 | g.43338013A>T | CA1165575842 | MPL | c.80-86A>T (n.80-86A>T) c.79+86A>T (n.79+86A>T) n.80-86A>T c.165A>T (p.Arg55Ser) | dbSNP gnomAD v4 |
| 1 | g.43338014G>A | CA2645221763 | MPL | c.80-85G>A (n.80-85G>A) c.79+87G>A (n.79+87G>A) n.80-85G>A c.166G>A (p.Val56Ile) | gnomAD v4 |
| 1 | g.43338014G>C | CA2645221765 | MPL | c.80-85G>C (n.80-85G>C) c.79+87G>C (n.79+87G>C) n.80-85G>C c.166G>C (p.Val56Leu) | gnomAD v4 |
| 1 | g.43338015T>G | CA2645221769 | MPL | c.80-84T>G (n.80-84T>G) c.79+88T>G (n.79+88T>G) n.80-84T>G c.167T>G (p.Val56Gly) | gnomAD v4 |
| 1 | g.43338015dup | CA2645221767 | MPL | c.80-84dup (n.80-84dup) c.79+88dup (n.79+88dup) n.80-84dup c.167dup (p.Arg57LysfsTer?) | gnomAD v4 |
| 1 | g.43338016A= | CA1145663947 | MPL | c.80-83A= (n.80-83A=) c.79+89A= (n.79+89A=) n.80-83A= c.168A= (p.Val56=) | |
| 1 | g.43338016A>C | CA21606818 | MPL | c.80-83A>C (n.80-83A>C) c.79+89A>C (n.79+89A>C) n.80-83A>C c.168A>C (p.Val56=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.43338018del | CA2574340711 | MPL | c.80-81del (n.80-81del) c.79+91del (n.79+91del) n.80-81del c.170del (p.Arg57LysfsTer12) | |
| 1 | g.43338018G>A | CA2695549644 | MPL | c.80-81G>A (n.80-81G>A) c.79+91G>A (n.79+91G>A) n.80-81G>A c.170G>A (p.Arg57Lys) | dbSNP |
| 1 | g.43338018G>C | CA735989643 | MPL | c.80-81G>C (n.80-81G>C) c.79+91G>C (n.79+91G>C) n.80-81G>C c.170G>C (p.Arg57Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.43338018G= | CA1165575843 | MPL | c.80-81G= (n.80-81G=) c.79+91G= (n.79+91G=) n.80-81G= c.170G= (p.Arg57=) | |
| 1 | g.43338019A= | CA1165575844 | MPL | c.80-80A= (n.80-80A=) c.79+92A= (n.79+92A=) n.80-80A= c.171A= (p.Arg57=) | |
| 1 | g.43338019A>C | CA735989646 | MPL | c.80-80A>C (n.80-80A>C) c.79+92A>C (n.79+92A>C) n.80-80A>C c.171A>C (p.Arg57Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.43338019A>G | CA2645221770 | MPL | c.80-80A>G (n.80-80A>G) c.79+92A>G (n.79+92A>G) n.80-80A>G c.171A>G (p.Arg57=) | gnomAD v4 |
| 1 | g.43338020G>A | CA21606822 | MPL | c.80-79G>A (n.80-79G>A) c.79+93G>A (n.79+93G>A) n.80-79G>A c.172G>A (p.Gly58Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.43338020G= | CA1142400786 | MPL | c.80-79G= (n.80-79G=) c.79+93G= (n.79+93G=) n.80-79G= c.172G= (p.Gly58=) | |
| 1 | g.43338020G>T | CA2645221776 | MPL | c.80-79G>T (n.80-79G>T) c.79+93G>T (n.79+93G>T) n.80-79G>T c.172G>T (p.Gly58Cys) | gnomAD v4 |
| 1 | g.43338021G>A | CA522806070 | MPL | c.80-78G>A (n.80-78G>A) c.79+94G>A (n.79+94G>A) n.80-78G>A c.173G>A (p.Gly58Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.43338021G= | CA1165575845 | MPL | c.80-78G= (n.80-78G=) c.79+94G= (n.79+94G=) n.80-78G= c.173G= (p.Gly58=) | |
| 1 | g.43338022C>A | CA2695564505 | MPL | c.80-77C>A (n.80-77C>A) c.79+95C>A (n.79+95C>A) n.80-77C>A c.174C>A (p.Gly58=) | dbSNP |
| 1 | g.43338022C= | CA1165575846 | MPL | c.80-77C= (n.80-77C=) c.79+95C= (n.79+95C=) n.80-77C= c.174C= (p.Gly58=) | |
| 1 | g.43338022C>T | CA1001097296 | MPL | c.80-77C>T (n.80-77C>T) c.79+95C>T (n.79+95C>T) n.80-77C>T c.174C>T (p.Gly58=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.43338027C>A | CA2695581061 | MPL | c.80-72C>A (n.80-72C>A) c.80-93C>A (n.80-93C>A) n.80-72C>A c.179C>A (p.Pro60His) | dbSNP |
| 1 | g.43338027C= | CA1165575847 | MPL | c.80-72C= (n.80-72C=) c.80-93C= (n.80-93C=) n.80-72C= c.179C= (p.Pro60=) | |
| 1 | g.43338027C>T | CA1165575848 | MPL | c.80-72C>T (n.80-72C>T) c.80-93C>T (n.80-93C>T) n.80-72C>T c.179C>T (p.Pro60Leu) | dbSNP gnomAD v4 |
| 1 | g.43338028T>C | CA2574340712 | MPL | c.80-71T>C (n.80-71T>C) c.80-92T>C (n.80-92T>C) n.80-71T>C c.180T>C (p.Pro60=) | gnomAD v4 |