| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.43337830G>A | CA2645221656 | MPL | c.-19G>A (n.-19G>A) | dbSNP gnomAD v4 |
| 1 | g.43337831C>T | CA2695810594 | MPL | c.-18C>T (n.-18C>T) | dbSNP |
| 1 | g.43337834A= | CA1165575779 | MPL | c.-15A= (n.-15A=) | |
| 1 | g.43337834A>G | CA522806055 | MPL | c.-15A>G (n.-15A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.43337834A>T | CA2645221657 | MPL | c.-15A>T (n.-15A>T) | gnomAD v4 |
| 1 | g.43337835C= | CA1165575780 | MPL | c.-14C= (n.-14C=) | |
| 1 | g.43337835C>T | CA522806056 | MPL | c.-14C>T (n.-14C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.43337836A= | CA1148306794 | MPL | c.-13A= (n.-13A=) | |
| 1 | g.43337836A>C | CA806544 | MPL | c.-13A>C (n.-13A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.43337837G>A | CA21606716 | MPL | c.-12G>A (n.-12G>A) | dbSNP |
| 1 | g.43337837G= | CA1165575781 | MPL | c.-12G= (n.-12G=) | |
| 1 | g.43337838T>C | CA2645221660 | MPL | c.-11T>C (n.-11T>C) | gnomAD v4 |
| 1 | g.43337841C>A | CA2645221662 | MPL | c.-8C>A (n.-8C>A) | gnomAD v4 |
| 1 | g.43337841C= | CA1144163260 | MPL | c.-8C= (n.-8C=) | |
| 1 | g.43337841C>T | CA806545 | MPL | c.-8C>T (n.-8C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.43337842G>A | CA806546 | MPL | c.-7G>A (n.-7G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.43337842G>C | CA21606734 | MPL | c.-7G>C (n.-7G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.43337842G= | CA1145148034 | MPL | c.-7G= (n.-7G=) | |
| 1 | g.43337843G>A | CA522806057 | MPL | c.-6G>A (n.-6G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.43337843G>C | CA2645221666 | MPL | c.-6G>C (n.-6G>C) | gnomAD v4 |
| 1 | g.43337843G= | CA1165575782 | MPL | c.-6G= (n.-6G=) | |
| 1 | g.43337847A>T | CA2645221667 | MPL | c.-2A>T (n.-2A>T) | gnomAD v4 |
| 1 | g.43337848G>A | CA2645221668 | MPL | c.-1G>A (n.-1G>A) | gnomAD v4 |
| 1 | g.43337848G>C | CA2645221669 | MPL | c.-1G>C (n.-1G>C) | gnomAD v4 |
| 1 | g.43337848G>T | CA2645221671 | MPL | c.-1G>T (n.-1G>T) | gnomAD v4 |
| 1 | g.43337849A>C | CA339971768 | MPL | c.1A>C (p.Met1Leu) n.1A>C | |
| 1 | g.43337849A>G | CA339971771 | MPL | c.1A>G (p.Met1Val) n.1A>G | |
| 1 | g.43337849A>T | CA339971773 | MPL | c.1A>T (p.Met1Leu) n.1A>T | |
| 1 | g.43337850T>A | CA339971777 | MPL | c.2T>A (p.Met1Lys) n.2T>A | |
| 1 | g.43337850T>C | CA339971781 | MPL | c.2T>C (p.Met1Thr) n.2T>C | |
| 1 | g.43337850T>G | CA339971784 | MPL | c.2T>G (p.Met1Arg) n.2T>G | |
| 1 | g.43337851G>A | CA339971788 | MPL | c.3G>A (p.Met1Ile) n.3G>A | gnomAD v4 |
| 1 | g.43337851G>C | CA339971790 | MPL | c.3G>C (p.Met1Ile) n.3G>C | gnomAD v4 |
| 1 | g.43337851G>T | CA339971792 | MPL | c.3G>T (p.Met1Ile) n.3G>T | |
| 1 | g.43337857_43337866del | CA2695810601 | MPL | c.9_18del (p.Trp4SerfsTer?) c.9_18del (p.Trp4SerfsTer25) n.9_18del | dbSNP |
| 1 | g.43337852C>A | CA339971800 | MPL | c.4C>A (p.Pro2Thr) n.4C>A | |
| 1 | g.43337852C= | CA1165575783 | MPL | c.4C= (p.Pro2=) n.4C= | |
| 1 | g.43337852C>G | CA339971797 | MPL | c.4C>G (p.Pro2Ala) n.4C>G | dbSNP gnomAD v4 |
| 1 | g.43337852C>T | CA806547 | MPL | c.4C>T (p.Pro2Ser) n.4C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.43337853C>A | CA339971804 | MPL | c.5C>A (p.Pro2His) n.5C>A | gnomAD v4 |
| 1 | g.43337853C= | CA1143022320 | MPL | c.5C= (p.Pro2=) n.5C= | |
| 1 | g.43337853C>G | CA339971808 | MPL | c.5C>G (p.Pro2Arg) n.5C>G | |
| 1 | g.43337853C>T | CA806548 | MPL | c.5C>T (p.Pro2Leu) n.5C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.43337854C>A | CA417416410 | MPL | c.6C>A (p.Pro2=) n.6C>A | |
| 1 | g.43337854C>G | CA417416412 | MPL | c.6C>G (p.Pro2=) n.6C>G | gnomAD v4 |
| 1 | g.43337854C>T | CA417416413 | MPL | c.6C>T (p.Pro2=) n.6C>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.43337855T>A | CA339971814 | MPL | c.7T>A (p.Ser3Thr) n.7T>A | COSMIC COSMIC |
| 1 | g.43337855T>C | CA339971816 | MPL | c.7T>C (p.Ser3Pro) n.7T>C | |
| 1 | g.43337855T>G | CA339971820 | MPL | c.7T>G (p.Ser3Ala) n.7T>G | |
| 1 | g.43337856C>A | CA339971825 | MPL | c.8C>A (p.Ser3Tyr) n.8C>A | gnomAD v4 |
| 1 | g.43337856C>G | CA339971828 | MPL | c.8C>G (p.Ser3Cys) n.8C>G | |
| 1 | g.43337856C>T | CA339971832 | MPL | c.8C>T (p.Ser3Phe) n.8C>T | gnomAD v4 |
| 1 | g.43337857C>A | CA417416416 | MPL | c.9C>A (p.Ser3=) n.9C>A | gnomAD v4 |
| 1 | g.43337857C= | CA1165575784 | MPL | c.9C= (p.Ser3=) n.9C= | |
| 1 | g.43337857C>G | CA417416417 | MPL | c.9C>G (p.Ser3=) n.9C>G | ClinVar gnomAD v4 |
| 1 | g.43337857C>T | CA417416418 | MPL | c.9C>T (p.Ser3=) n.9C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.43337858T>A | CA339971836 | MPL | c.10T>A (p.Trp4Arg) n.10T>A | |
| 1 | g.43337858T>C | CA806549 | MPL | c.10T>C (p.Trp4Arg) n.10T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.43337858T>G | CA339971842 | MPL | c.10T>G (p.Trp4Gly) n.10T>G | |
| 1 | g.43337858T= | CA1165575785 | MPL | c.10T= (p.Trp4=) n.10T= | |
| 1 | g.43337859G>A | CA806550 | MPL | c.11G>A (p.Trp4Ter) n.11G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.43337859G>C | CA339971851 | MPL | c.11G>C (p.Trp4Ser) n.11G>C | |
| 1 | g.43337859G= | CA1165575786 | MPL | c.11G= (p.Trp4=) n.11G= | |
| 1 | g.43337859G>T | CA339971846 | MPL | c.11G>T (p.Trp4Leu) n.11G>T | gnomAD v4 |
| 1 | g.43337860G>A | CA339971854 | MPL | c.12G>A (p.Trp4Ter) n.12G>A | ClinVar dbSNP |
| 1 | g.43337860G>C | CA339971856 | MPL | c.12G>C (p.Trp4Cys) n.12G>C | gnomAD v4 |
| 1 | g.43337860G= | CA1165575787 | MPL | c.12G= (p.Trp4=) n.12G= | |
| 1 | g.43337860G>T | CA339971859 | MPL | c.12G>T (p.Trp4Cys) n.12G>T | |
| 1 | g.43337861G>A | CA339971864 | MPL | c.13G>A (p.Ala5Thr) n.13G>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.43337861G>C | CA339971865 | MPL | c.13G>C (p.Ala5Pro) n.13G>C | |
| 1 | g.43337861G= | CA1165575788 | MPL | c.13G= (p.Ala5=) n.13G= | |
| 1 | g.43337861G>T | CA339971871 | MPL | c.13G>T (p.Ala5Ser) n.13G>T | dbSNP |
| 1 | g.43337862C>A | CA339971874 | MPL | c.14C>A (p.Ala5Asp) n.14C>A | gnomAD v4 |
| 1 | g.43337862C>G | CA339971876 | MPL | c.14C>G (p.Ala5Gly) n.14C>G | |
| 1 | g.43337862C>T | CA339971879 | MPL | c.14C>T (p.Ala5Val) n.14C>T | |
| 1 | g.43337863C>A | CA417416424 | MPL | c.15C>A (p.Ala5=) n.15C>A | |
| 1 | g.43337863C= | CA1165575789 | MPL | c.15C= (p.Ala5=) n.15C= | |
| 1 | g.43337863C>G | CA417416425 | MPL | c.15C>G (p.Ala5=) n.15C>G | |
| 1 | g.43337863C>T | CA417416426 | MPL | c.15C>T (p.Ala5=) n.15C>T | dbSNP COSMIC COSMIC |
| 1 | g.43337864C>A | CA339971881 | MPL | c.16C>A (p.Leu6Ile) n.16C>A | |
| 1 | g.43337864C>G | CA339971885 | MPL | c.16C>G (p.Leu6Val) n.16C>G | |
| 1 | g.43337864C>T | CA339971888 | MPL | c.16C>T (p.Leu6Phe) n.16C>T | gnomAD v4 |
| 1 | g.43337865T>A | CA339971894 | MPL | c.17T>A (p.Leu6His) n.17T>A | |
| 1 | g.43337865T>C | CA339971897 | MPL | c.17T>C (p.Leu6Pro) n.17T>C | |
| 1 | g.43337865T>G | CA339971891 | MPL | c.17T>G (p.Leu6Arg) n.17T>G | |
| 1 | g.43337866C>A | CA417416430 | MPL | c.18C>A (p.Leu6=) n.18C>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.43337866C= | CA1165575790 | MPL | c.18C= (p.Leu6=) n.18C= | |
| 1 | g.43337866C>G | CA417416431 | MPL | c.18C>G (p.Leu6=) n.18C>G | |
| 1 | g.43337866C>T | CA417416432 | MPL | c.18C>T (p.Leu6=) n.18C>T | |
| 1 | g.43337867T>A | CA339971901 | MPL | c.19T>A (p.Phe7Ile) n.19T>A | |
| 1 | g.43337867T>C | CA339971904 | MPL | c.19T>C (p.Phe7Leu) n.19T>C | |
| 1 | g.43337867T>G | CA339971906 | MPL | c.19T>G (p.Phe7Val) n.19T>G | |
| 1 | g.43337868T>A | CA339971910 | MPL | c.20T>A (p.Phe7Tyr) n.20T>A | |
| 1 | g.43337868T>C | CA339971913 | MPL | c.20T>C (p.Phe7Ser) n.20T>C | |
| 1 | g.43337868T>G | CA339971915 | MPL | c.20T>G (p.Phe7Cys) n.20T>G | |
| 1 | g.43337868_43337869insGG | CA2743377638 | MPL | c.20_21insGG (p.Phe7LeufsTer?) c.20_21insGG (p.Phe7LeufsTer26) n.20_21insGG | |
| 1 | g.43337869C>A | CA339971922 | MPL | c.21C>A (p.Phe7Leu) n.21C>A | |
| 1 | g.43337869C>G | CA339971919 | MPL | c.21C>G (p.Phe7Leu) n.21C>G | COSMIC COSMIC |
| 1 | g.43337869C>T | CA417416434 | MPL | c.21C>T (p.Phe7=) n.21C>T | gnomAD v4 COSMIC COSMIC |
| 1 | g.43337870A= | CA1147659817 | MPL | c.22A= (p.Met8=) n.22A= | |
| 1 | g.43337870A>C | CA339971925 | MPL | c.22A>C (p.Met8Leu) n.22A>C | dbSNP |
| 1 | g.43337870A>G | CA806551 | MPL | c.22A>G (p.Met8Val) n.22A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.43337870A>T | CA339971930 | MPL | c.22A>T (p.Met8Leu) n.22A>T | |
| 1 | g.43337870_43337871del | CA2743377639 | MPL | c.22_23del (p.Met8GlyfsTer?) n.22_23del c.22_23del (p.Met8GlyfsTer20) | |
| 1 | g.43337871T>A | CA339971933 | MPL | c.23T>A (p.Met8Lys) n.23T>A | |
| 1 | g.43337871T>C | CA339971938 | MPL | c.23T>C (p.Met8Thr) n.23T>C | gnomAD v4 |
| 1 | g.43337871T>G | CA339971940 | MPL | c.23T>G (p.Met8Arg) n.23T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.43337871T= | CA1165575791 | MPL | c.23T= (p.Met8=) n.23T= | |
| 1 | g.43337872G>A | CA339971948 | MPL | c.24G>A (p.Met8Ile) n.24G>A | |
| 1 | g.43337872G>C | CA339971953 | MPL | c.24G>C (p.Met8Ile) n.24G>C | |
| 1 | g.43337872G>T | CA339971950 | MPL | c.24G>T (p.Met8Ile) n.24G>T | |
| 1 | g.43337873G>A | CA339971960 | MPL | c.25G>A (p.Val9Ile) n.25G>A | gnomAD v4 |
| 1 | g.43337873G>C | CA339971965 | MPL | c.25G>C (p.Val9Leu) n.25G>C | dbSNP |
| 1 | g.43337873G>T | CA339971963 | MPL | c.25G>T (p.Val9Phe) n.25G>T | |
| 1 | g.43337874T>A | CA339971970 | MPL | c.26T>A (p.Val9Asp) n.26T>A | |
| 1 | g.43337874T>C | CA339971975 | MPL | c.26T>C (p.Val9Ala) n.26T>C | |
| 1 | g.43337874T>G | CA339971973 | MPL | c.26T>G (p.Val9Gly) n.26T>G | |
| 1 | g.43337875C>A | CA417416438 | MPL | c.27C>A (p.Val9=) n.27C>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.43337875C= | CA1165575792 | MPL | c.27C= (p.Val9=) n.27C= | |
| 1 | g.43337875C>G | CA417416439 | MPL | c.27C>G (p.Val9=) n.27C>G | |
| 1 | g.43337875C>T | CA417416441 | MPL | c.27C>T (p.Val9=) n.27C>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.43337876A>C | CA339971980 | MPL | c.28A>C (p.Thr10Pro) n.28A>C | |
| 1 | g.43337876A>G | CA339971985 | MPL | c.28A>G (p.Thr10Ala) n.28A>G | gnomAD v4 |
| 1 | g.43337876A>T | CA339971983 | MPL | c.28A>T (p.Thr10Ser) n.28A>T | |
| 1 | g.43337877C>A | CA339971989 | MPL | c.29C>A (p.Thr10Asn) n.29C>A | |
| 1 | g.43337877C>G | CA339971995 | MPL | c.29C>G (p.Thr10Ser) n.29C>G | |
| 1 | g.43337877C>T | CA339971992 | MPL | c.29C>T (p.Thr10Ile) n.29C>T | gnomAD v4 |
| 1 | g.43337878C>A | CA417416449 | MPL | c.30C>A (p.Thr10=) n.30C>A | |
| 1 | g.43337878C>G | CA417416450 | MPL | c.30C>G (p.Thr10=) n.30C>G | |
| 1 | g.43337878C>T | CA417416451 | MPL | c.30C>T (p.Thr10=) n.30C>T | |
| 1 | g.43337879T>A | CA339972000 | MPL | c.31T>A (p.Ser11Thr) n.31T>A | |
| 1 | g.43337879T>C | CA339972003 | MPL | c.31T>C (p.Ser11Pro) n.31T>C | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.43337879T>G | CA339972005 | MPL | c.31T>G (p.Ser11Ala) n.31T>G | |
| 1 | g.43337880C>A | CA339972011 | MPL | c.32C>A (p.Ser11Tyr) n.32C>A | |
| 1 | g.43337880C= | CA1165575793 | MPL | c.32C= (p.Ser11=) n.32C= | |
| 1 | g.43337880C>G | CA339972013 | MPL | c.32C>G (p.Ser11Cys) n.32C>G | |
| 1 | g.43337880C>T | CA339972016 | MPL | c.32C>T (p.Ser11Phe) n.32C>T | dbSNP gnomAD v2 |
| 1 | g.43337881C>A | CA417416453 | MPL | c.33C>A (p.Ser11=) n.33C>A | |
| 1 | g.43337881C= | CA1165575794 | MPL | c.33C= (p.Ser11=) n.33C= | |
| 1 | g.43337881C>G | CA417416454 | MPL | c.33C>G (p.Ser11=) n.33C>G | |
| 1 | g.43337881C>T | CA417416455 | MPL | c.33C>T (p.Ser11=) n.33C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.43337882T>A | CA339972020 | MPL | c.34T>A (p.Cys12Ser) n.34T>A | |
| 1 | g.43337882T>C | CA339972023 | MPL | c.34T>C (p.Cys12Arg) n.34T>C | |
| 1 | g.43337882T>G | CA339972025 | MPL | c.34T>G (p.Cys12Gly) n.34T>G | |
| 1 | g.43337883G>A | CA339972029 | MPL | c.35G>A (p.Cys12Tyr) n.35G>A | dbSNP gnomAD v4 |
| 1 | g.43337883G>C | CA339972031 | MPL | c.35G>C (p.Cys12Ser) n.35G>C | |
| 1 | g.43337883G>T | CA339972033 | MPL | c.35G>T (p.Cys12Phe) n.35G>T | |
| 1 | g.43337884C>A | CA339972038 | MPL | c.36C>A (p.Cys12Ter) n.36C>A | |
| 1 | g.43337884C>G | CA339972041 | MPL | c.36C>G (p.Cys12Trp) n.36C>G | |
| 1 | g.43337884C>T | CA417416458 | MPL | c.36C>T (p.Cys12=) n.36C>T | dbSNP gnomAD v4 |
| 1 | g.43337885C>A | CA339972045 | MPL | c.37C>A (p.Leu13Ile) n.37C>A | dbSNP |
| 1 | g.43337885C>G | CA339972046 | MPL | c.37C>G (p.Leu13Val) n.37C>G | |
| 1 | g.43337885C>T | CA339972048 | MPL | c.37C>T (p.Leu13Phe) n.37C>T | |
| 1 | g.43337886T>A | CA339972051 | MPL | c.38T>A (p.Leu13His) n.38T>A | |
| 1 | g.43337886T>C | CA339972052 | MPL | c.38T>C (p.Leu13Pro) n.38T>C | gnomAD v4 |
| 1 | g.43337886T>G | CA339972055 | MPL | c.38T>G (p.Leu13Arg) n.38T>G | |
| 1 | g.43337887C>A | CA417416463 | MPL | c.39C>A (p.Leu13=) n.39C>A | |
| 1 | g.43337887C>G | CA417416464 | MPL | c.39C>G (p.Leu13=) n.39C>G | |
| 1 | g.43337887C>T | CA417416465 | MPL | c.39C>T (p.Leu13=) n.39C>T | |
| 1 | g.43337888C>A | CA339972058 | MPL | c.40C>A (p.Leu14Ile) n.40C>A | |
| 1 | g.43337888C= | CA1165575795 | MPL | c.40C= (p.Leu14=) n.40C= | |
| 1 | g.43337888C>G | CA339972060 | MPL | c.40C>G (p.Leu14Val) n.40C>G | |
| 1 | g.43337888C>T | CA339972062 | MPL | c.40C>T (p.Leu14Phe) n.40C>T | dbSNP gnomAD v4 |
| 1 | g.43337889T>A | CA339972069 | MPL | c.41T>A (p.Leu14His) n.41T>A | |
| 1 | g.43337889T>C | CA339972067 | MPL | c.41T>C (p.Leu14Pro) n.41T>C | |
| 1 | g.43337889T>G | CA339972065 | MPL | c.41T>G (p.Leu14Arg) n.41T>G | |
| 1 | g.43337890C>A | CA417416468 | MPL | c.42C>A (p.Leu14=) n.42C>A | |
| 1 | g.43337890C>G | CA417416470 | MPL | c.42C>G (p.Leu14=) n.42C>G | |
| 1 | g.43337890C>T | CA417416472 | MPL | c.42C>T (p.Leu14=) n.42C>T | ClinVar dbSNP |
| 1 | g.43337891C>A | CA339972071 | MPL | c.43C>A (p.Leu15Met) n.43C>A | gnomAD v4 |
| 1 | g.43337891C>G | CA339972074 | MPL | c.43C>G (p.Leu15Val) n.43C>G | |
| 1 | g.43337891C>T | CA417416475 | MPL | c.43C>T (p.Leu15=) n.43C>T | |
| 1 | g.43337892T>A | CA339972077 | MPL | c.44T>A (p.Leu15Gln) n.44T>A | |
| 1 | g.43337892T>C | CA339972079 | MPL | c.44T>C (p.Leu15Pro) n.44T>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.43337892T>G | CA339972081 | MPL | c.44T>G (p.Leu15Arg) n.44T>G | |
| 1 | g.43337892T= | CA1165575796 | MPL | c.44T= (p.Leu15=) n.44T= | |
| 1 | g.43337893G>A | CA417416479 | MPL | c.45G>A (p.Leu15=) n.45G>A | |
| 1 | g.43337893G>C | CA417416480 | MPL | c.45G>C (p.Leu15=) n.45G>C | |
| 1 | g.43337893G>T | CA417416481 | MPL | c.45G>T (p.Leu15=) n.45G>T | gnomAD v4 |
| 1 | g.43337893_43337894insTATAAGAGACA | CA2580062773 | MPL | c.45_46insTATAAGAGACA (p.Ala16TyrfsTer27) c.45_46insTATAAGAGACA (p.Ala16TyrfsTer20) n.45_46insTATAAGAGACA c.45_46insTATAAGAGACA (p.Ala16TyrfsTer?) | ClinVar |
| 1 | g.43337894G>A | CA21606743 | MPL | c.46G>A (p.Ala16Thr) n.46G>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.43337894G>C | CA339972085 | MPL | c.46G>C (p.Ala16Pro) n.46G>C | dbSNP |
| 1 | g.43337894G= | CA1145282730 | MPL | c.46G= (p.Ala16=) n.46G= | |
| 1 | g.43337894G>T | CA339972087 | MPL | c.46G>T (p.Ala16Ser) n.46G>T | |
| 1 | g.43337895C>A | CA339972090 | MPL | c.47C>A (p.Ala16Asp) n.47C>A | |
| 1 | g.43337895C= | CA1165575797 | MPL | c.47C= (p.Ala16=) n.47C= | |
| 1 | g.43337895C>G | CA339972092 | MPL | c.47C>G (p.Ala16Gly) n.47C>G | |
| 1 | g.43337895C>T | CA339972094 | MPL | c.47C>T (p.Ala16Val) n.47C>T | dbSNP gnomAD v2 |
| 1 | g.43337896C>A | CA417416486 | MPL | c.48C>A (p.Ala16=) n.48C>A | |
| 1 | g.43337896C>G | CA417416487 | MPL | c.48C>G (p.Ala16=) n.48C>G | |
| 1 | g.43337896C>T | CA417416488 | MPL | c.48C>T (p.Ala16=) n.48C>T | dbSNP |
| 1 | g.43337897C>A | CA339972101 | MPL | c.49C>A (p.Pro17Thr) n.49C>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.43337897C= | CA1165575798 | MPL | c.49C= (p.Pro17=) n.49C= | |
| 1 | g.43337897C>G | CA339972097 | MPL | c.49C>G (p.Pro17Ala) n.49C>G | |
| 1 | g.43337897C>T | CA339972099 | MPL | c.49C>T (p.Pro17Ser) n.49C>T | ClinVar dbSNP |
| 1 | g.43337898C>A | CA339972104 | MPL | c.50C>A (p.Pro17His) n.50C>A | |
| 1 | g.43337898C= | CA1165575799 | MPL | c.50C= (p.Pro17=) n.50C= | |
| 1 | g.43337898C>G | CA339972106 | MPL | c.50C>G (p.Pro17Arg) n.50C>G | |
| 1 | g.43337898C>T | CA339972109 | MPL | c.50C>T (p.Pro17Leu) n.50C>T | dbSNP gnomAD v2 |
| 1 | g.43337899T>A | CA417416491 | MPL | c.51T>A (p.Pro17=) n.51T>A | |
| 1 | g.43337899T>C | CA417416493 | MPL | c.51T>C (p.Pro17=) n.51T>C | dbSNP gnomAD v4 |
| 1 | g.43337899T>G | CA417416496 | MPL | c.51T>G (p.Pro17=) n.51T>G | ClinVar dbSNP |
| 1 | g.43337900C>A | CA339972112 | MPL | c.52C>A (p.Gln18Lys) n.52C>A | |
| 1 | g.43337900C>G | CA339972114 | MPL | c.52C>G (p.Gln18Glu) n.52C>G | gnomAD v4 |
| 1 | g.43337900C>T | CA339972116 | MPL | c.52C>T (p.Gln18Ter) n.52C>T | |
| 1 | g.43337901A>C | CA339972120 | MPL | c.53A>C (p.Gln18Pro) n.53A>C | |
| 1 | g.43337901A>G | CA339972122 | MPL | c.53A>G (p.Gln18Arg) n.53A>G | |
| 1 | g.43337901A>T | CA339972125 | MPL | c.53A>T (p.Gln18Leu) n.53A>T | |
| 1 | g.43337904del | CA2580062774 | MPL | c.56del (p.Asn19ThrfsTer20) c.56del (p.Asn19ThrfsTer13) n.56del c.56del (p.Asn19ThrfsTer28) | ClinVar dbSNP gnomAD v4 |
| 1 | g.43337902A>C | CA339972127 | MPL | c.54A>C (p.Gln18His) n.54A>C | |
| 1 | g.43337902A>G | CA417416497 | MPL | c.54A>G (p.Gln18=) n.54A>G | |
| 1 | g.43337902A>T | CA339972130 | MPL | c.54A>T (p.Gln18His) n.54A>T | |
| 1 | g.43337903A>C | CA339972134 | MPL | c.55A>C (p.Asn19His) n.55A>C | |
| 1 | g.43337903A>G | CA339972136 | MPL | c.55A>G (p.Asn19Asp) n.55A>G | |
| 1 | g.43337903A>T | CA339972132 | MPL | c.55A>T (p.Asn19Tyr) n.55A>T | |
| 1 | g.43337904A>C | CA339972143 | MPL | c.56A>C (p.Asn19Thr) n.56A>C | COSMIC COSMIC |
| 1 | g.43337904A>G | CA339972139 | MPL | c.56A>G (p.Asn19Ser) n.56A>G | |
| 1 | g.43337904A>T | CA339972141 | MPL | c.56A>T (p.Asn19Ile) n.56A>T | |
| 1 | g.43337905C>A | CA806552 | MPL | c.57C>A (p.Asn19Lys) n.57C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.43337905C= | CA1165575800 | MPL | c.57C= (p.Asn19=) n.57C= | |
| 1 | g.43337905C>G | CA339972148 | MPL | c.57C>G (p.Asn19Lys) n.57C>G | |
| 1 | g.43337905C>T | CA417416499 | MPL | c.57C>T (p.Asn19=) n.57C>T | gnomAD v4 |
| 1 | g.43337906C>A | CA339972151 | MPL | c.58C>A (p.Leu20Met) n.58C>A | |
| 1 | g.43337906C>G | CA339972153 | MPL | c.58C>G (p.Leu20Val) n.58C>G | |
| 1 | g.43337906C>T | CA417416501 | MPL | c.58C>T (p.Leu20=) n.58C>T | |
| 1 | g.43337907T>A | CA339972155 | MPL | c.59T>A (p.Leu20Gln) n.59T>A | |
| 1 | g.43337907T>C | CA339972157 | MPL | c.59T>C (p.Leu20Pro) n.59T>C | COSMIC COSMIC |
| 1 | g.43337907T>G | CA339972159 | MPL | c.59T>G (p.Leu20Arg) n.59T>G | |
| 1 | g.43337908G>A | CA806553 | MPL | c.60G>A (p.Leu20=) n.60G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.43337908G>C | CA417416502 | MPL | c.60G>C (p.Leu20=) n.60G>C | |
| 1 | g.43337908G= | CA1165575801 | MPL | c.60G= (p.Leu20=) n.60G= | |
| 1 | g.43337908G>T | CA417416505 | MPL | c.60G>T (p.Leu20=) n.60G>T | |
| 1 | g.43337909G>A | CA339972163 | MPL | c.61G>A (p.Ala21Thr) n.61G>A | dbSNP gnomAD v2 |
| 1 | g.43337909G>C | CA339972165 | MPL | c.61G>C (p.Ala21Pro) n.61G>C | |
| 1 | g.43337909G= | CA1165575802 | MPL | c.61G= (p.Ala21=) n.61G= | |
| 1 | g.43337909G>T | CA339972168 | MPL | c.61G>T (p.Ala21Ser) n.61G>T | gnomAD v4 COSMIC COSMIC |
| 1 | g.43337910C>A | CA339972171 | MPL | c.62C>A (p.Ala21Asp) n.62C>A | dbSNP |
| 1 | g.43337910C>G | CA339972169 | MPL | c.62C>G (p.Ala21Gly) n.62C>G | |
| 1 | g.43337910C>T | CA339972170 | MPL | c.62C>T (p.Ala21Val) n.62C>T | dbSNP gnomAD v4 COSMIC |
| 1 | g.43337911C>A | CA417416512 | MPL | c.63C>A (p.Ala21=) n.63C>A | |
| 1 | g.43337911C>G | CA417416513 | MPL | c.63C>G (p.Ala21=) n.63C>G | |
| 1 | g.43337911C>T | CA417416515 | MPL | c.63C>T (p.Ala21=) n.63C>T | |
| 1 | g.43337912C>A | CA339972172 | MPL | c.64C>A (p.Gln22Lys) n.64C>A | |
| 1 | g.43337912C>G | CA339972174 | MPL | c.64C>G (p.Gln22Glu) n.64C>G | |
| 1 | g.43337912C>T | CA339972176 | MPL | c.64C>T (p.Gln22Ter) n.64C>T | dbSNP |
| 1 | g.43337913A>C | CA339972180 | MPL | c.65A>C (p.Gln22Pro) n.65A>C | |
| 1 | g.43337913A>G | CA339972182 | MPL | c.65A>G (p.Gln22Arg) n.65A>G | |
| 1 | g.43337913A>T | CA339972183 | MPL | c.65A>T (p.Gln22Leu) n.65A>T | |
| 1 | g.43337914A>C | CA339972186 | MPL | c.66A>C (p.Gln22His) n.66A>C | |
| 1 | g.43337914A>G | CA417416517 | MPL | c.66A>G (p.Gln22=) n.66A>G | |
| 1 | g.43337914A>T | CA339972188 | MPL | c.66A>T (p.Gln22His) n.66A>T | |
| 1 | g.43337915G>A | CA339972193 | MPL | c.67G>A (p.Val23Ile) n.67G>A | |
| 1 | g.43337915G>C | CA339972197 | MPL | c.67G>C (p.Val23Leu) n.67G>C | |
| 1 | g.43337915G>T | CA339972205 | MPL | c.67G>T (p.Val23Phe) n.67G>T | |
| 1 | g.43337916T>A | CA339972215 | MPL | c.68T>A (p.Val23Asp) n.68T>A | dbSNP |
| 1 | g.43337916T>C | CA339972213 | MPL | c.68T>C (p.Val23Ala) n.68T>C | dbSNP |
| 1 | g.43337916T>G | CA339972208 | MPL | c.68T>G (p.Val23Gly) n.68T>G | |
| 1 | g.43337917C>A | CA417416520 | MPL | c.69C>A (p.Val23=) n.69C>A | ClinVar dbSNP |
| 1 | g.43337917C>G | CA417416522 | MPL | c.69C>G (p.Val23=) n.69C>G | |
| 1 | g.43337917C>T | CA417416524 | MPL | c.69C>T (p.Val23=) n.69C>T | gnomAD v4 |
| 1 | g.43337918A>C | CA339972219 | MPL | c.70A>C (p.Ser24Arg) n.70A>C | |
| 1 | g.43337918A>G | CA339972222 | MPL | c.70A>G (p.Ser24Gly) n.70A>G | |
| 1 | g.43337918A>T | CA339972226 | MPL | c.70A>T (p.Ser24Cys) n.70A>T | |
| 1 | g.43337919G>A | CA339972230 | MPL | c.71G>A (p.Ser24Asn) n.71G>A | dbSNP |
| 1 | g.43337919G>C | CA339972233 | MPL | c.71G>C (p.Ser24Thr) n.71G>C | |
| 1 | g.43337919G>T | CA339972236 | MPL | c.71G>T (p.Ser24Ile) n.71G>T | |
| 1 | g.43337920C>A | CA339972240 | MPL | c.72C>A (p.Ser24Arg) n.72C>A | |
| 1 | g.43337920C= | CA1142232949 | MPL | c.72C= (p.Ser24=) n.72C= | |
| 1 | g.43337920C>G | CA339972243 | MPL | c.72C>G (p.Ser24Arg) n.72C>G | |
| 1 | g.43337920C>T | CA806554 | MPL | c.72C>T (p.Ser24=) n.72C>T | dbSNP ExAC gnomAD v2 |
| 1 | g.43337921A>C | CA339972249 | MPL | c.73A>C (p.Ser25Arg) n.73A>C | |
| 1 | g.43337921A>G | CA339972252 | MPL | c.73A>G (p.Ser25Gly) n.73A>G | |
| 1 | g.43337921A>T | CA339972256 | MPL | c.73A>T (p.Ser25Cys) n.73A>T | |
| 1 | g.43337922G>A | CA339972269 | MPL | c.74G>A (p.Ser25Asn) n.74G>A | dbSNP |
| 1 | g.43337922G>C | CA339972266 | MPL | c.74G>C (p.Ser25Thr) n.74G>C | gnomAD v4 |
| 1 | g.43337922G>T | CA339972263 | MPL | c.74G>T (p.Ser25Ile) n.74G>T | |
| 1 | g.43337923C>A | CA339972273 | MPL | c.75C>A (p.Ser25Arg) n.75C>A | |
| 1 | g.43337923C>G | CA339972277 | MPL | c.75C>G (p.Ser25Arg) n.75C>G | |
| 1 | g.43337923C>T | CA417416527 | MPL | c.75C>T (p.Ser25=) n.75C>T | |
| 1 | g.43337924C>A | CA339972284 | MPL | c.76C>A (p.Gln26Lys) n.76C>A | gnomAD v4 |
| 1 | g.43337924C>G | CA339972287 | MPL | c.76C>G (p.Gln26Glu) n.76C>G | |
| 1 | g.43337924C>T | CA339972290 | MPL | c.76C>T (p.Gln26Ter) n.76C>T | |
| 1 | g.43337925A>C | CA339972295 | MPL | c.77A>C (p.Gln26Pro) n.77A>C | |
| 1 | g.43337925A>G | CA339972297 | MPL | c.77A>G (p.Gln26Arg) n.77A>G | |
| 1 | g.43337925A>T | CA339972301 | MPL | c.77A>T (p.Gln26Leu) n.77A>T | |
| 1 | g.43337926A>C | CA339972305 | MPL | c.78A>C (p.Gln26His) n.78A>C | |
| 1 | g.43337926A>G | CA417416530 | MPL | c.78A>G (p.Gln26=) n.78A>G | |
| 1 | g.43337926A>T | CA339972308 | MPL | c.78A>T (p.Gln26His) n.78A>T | |
| 1 | g.43337927G>A | CA339972313 | MPL | c.79G>A (p.Asp27Asn) n.79G>A c.79G>A (p.Gly27Ser) | |
| 1 | g.43337927G>C | CA339972315 | MPL | c.79G>C (p.Asp27His) n.79G>C c.79G>C (p.Gly27Arg) | |
| 1 | g.43337927G>T | CA339972318 | MPL | c.79G>T (p.Asp27Tyr) n.79G>T c.79G>T (p.Gly27Cys) | |
| 1 | g.43337928G>A | CA339972326 | MPL | c.79+1G>A (n.79+1G>A) n.79+1G>A c.80G>A (p.Gly27Asp) | ClinVar |
| 1 | g.43337928G>C | CA339972327 | MPL | c.79+1G>C (n.79+1G>C) n.79+1G>C c.80G>C (p.Gly27Ala) | |
| 1 | g.43337928G= | CA1165575803 | MPL | c.79+1G= (n.79+1G=) n.79+1G= c.80G= (p.Gly27=) | |
| 1 | g.43337928G>T | CA339972322 | MPL | c.79+1G>T (n.79+1G>T) n.79+1G>T c.80G>T (p.Gly27Val) | ClinVar dbSNP |
| 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=) |