Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.43338536C= | CA1165576042 | MPL | c.213-6C= (n.213-6C=) c.192-6C= (n.192-6C=) n.213-6C= c.384-6C= (n.384-6C=) | |
1 | g.43338536C>T | CA1165576043 | MPL | c.213-6C>T (n.213-6C>T) c.192-6C>T (n.192-6C>T) n.213-6C>T c.384-6C>T (n.384-6C>T) | ClinVar dbSNP gnomAD v4 |
1 | g.43338539C>A | CA735990209 | MPL | c.213-3C>A (n.213-3C>A) c.192-3C>A (n.192-3C>A) n.213-3C>A c.384-3C>A (n.384-3C>A) | dbSNP gnomAD v4 |
1 | g.43338539C= | CA1165576044 | MPL | c.213-3C= (n.213-3C=) c.192-3C= (n.192-3C=) n.213-3C= c.384-3C= (n.384-3C=) | |
1 | g.43338539C>T | CA2645222178 | MPL | c.213-3C>T (n.213-3C>T) c.192-3C>T (n.192-3C>T) n.213-3C>T c.384-3C>T (n.384-3C>T) | gnomAD v4 |
1 | g.43338540A>C | CA339973213 | MPL | c.213-2A>C (n.213-2A>C) c.192-2A>C (n.192-2A>C) n.213-2A>C c.384-2A>C (n.384-2A>C) | |
1 | g.43338540A>G | CA339973215 | MPL | c.213-2A>G (n.213-2A>G) c.192-2A>G (n.192-2A>G) n.213-2A>G c.384-2A>G (n.384-2A>G) | gnomAD v4 |
1 | g.43338540A>T | CA339973218 | MPL | c.213-2A>T (n.213-2A>T) c.192-2A>T (n.192-2A>T) n.213-2A>T c.384-2A>T (n.384-2A>T) | |
1 | g.43338541G>A | CA21607175 | MPL | c.213-1G>A (n.213-1G>A) c.192-1G>A (n.192-1G>A) n.213-1G>A c.384-1G>A (n.384-1G>A) | ClinVar dbSNP |
1 | g.43338541G>C | CA339973220 | MPL | c.213-1G>C (n.213-1G>C) c.192-1G>C (n.192-1G>C) n.213-1G>C c.384-1G>C (n.384-1G>C) | |
1 | g.43338541G= | CA1165576045 | MPL | c.213-1G= (n.213-1G=) c.192-1G= (n.192-1G=) n.213-1G= c.384-1G= (n.384-1G=) | |
1 | g.43338541G>T | CA339973222 | MPL | c.213-1G>T (n.213-1G>T) c.192-1G>T (n.192-1G>T) n.213-1G>T c.384-1G>T (n.384-1G>T) | |
1 | g.43338542G>A | CA417417241 | MPL | c.213G>A (p.Arg71=) c.192G>A (p.Arg64=) n.213G>A c.384G>A (p.Arg128=) | gnomAD v4 |
1 | g.43338542G>C | CA417417242 | MPL | c.213G>C (p.Arg71=) c.192G>C (p.Arg64=) n.213G>C c.384G>C (p.Arg128=) | |
1 | g.43338542G>T | CA417417243 | MPL | c.213G>T (p.Arg71=) c.192G>T (p.Arg64=) n.213G>T c.384G>T (p.Arg128=) | gnomAD v4 |
1 | g.43338543G>A | CA339973230 | MPL | c.214G>A (p.Glu72Lys) c.193G>A (p.Glu65Lys) n.214G>A c.385G>A (p.Glu129Lys) | COSMIC COSMIC |
1 | g.43338543G>C | CA339973228 | MPL | c.214G>C (p.Glu72Gln) c.193G>C (p.Glu65Gln) n.214G>C c.385G>C (p.Glu129Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43338543G= | CA1165576046 | MPL | c.214G= (p.Glu72=) c.193G= (p.Glu65=) n.214G= c.385G= (p.Glu129=) | |
1 | g.43338543G>T | CA339973225 | MPL | c.214G>T (p.Glu72Ter) c.193G>T (p.Glu65Ter) n.214G>T c.385G>T (p.Glu129Ter) | ClinVar dbSNP |
1 | g.43338544A>C | CA339973233 | MPL | c.215A>C (p.Glu72Ala) c.194A>C (p.Glu65Ala) n.215A>C c.386A>C (p.Glu129Ala) | |
1 | g.43338544A>G | CA339973236 | MPL | c.215A>G (p.Glu72Gly) c.194A>G (p.Glu65Gly) n.215A>G c.386A>G (p.Glu129Gly) | |
1 | g.43338544A>T | CA339973238 | MPL | c.215A>T (p.Glu72Val) c.194A>T (p.Glu65Val) n.215A>T c.386A>T (p.Glu129Val) | |
1 | g.43338545G>A | CA417417245 | MPL | c.216G>A (p.Glu72=) c.195G>A (p.Glu65=) n.216G>A c.387G>A (p.Glu129=) | dbSNP |
1 | g.43338545G>C | CA339973239 | MPL | c.216G>C (p.Glu72Asp) c.195G>C (p.Glu65Asp) n.216G>C c.387G>C (p.Glu129Asp) | dbSNP |
1 | g.43338545G>T | CA339973241 | MPL | c.216G>T (p.Glu72Asp) c.195G>T (p.Glu65Asp) n.216G>T c.387G>T (p.Glu129Asp) | |
1 | g.43338546A>C | CA339973243 | MPL | c.217A>C (p.Lys73Gln) c.196A>C (p.Lys66Gln) n.217A>C c.388A>C (p.Lys130Gln) | |
1 | g.43338546A>G | CA339973246 | MPL | c.217A>G (p.Lys73Glu) c.196A>G (p.Lys66Glu) n.217A>G c.388A>G (p.Lys130Glu) | |
1 | g.43338546A>T | CA339973248 | MPL | c.217A>T (p.Lys73Ter) c.196A>T (p.Lys66Ter) n.217A>T c.388A>T (p.Lys130Ter) | |
1 | g.43338547A>C | CA339973251 | MPL | c.218A>C (p.Lys73Thr) c.197A>C (p.Lys66Thr) n.218A>C c.389A>C (p.Lys130Thr) | |
1 | g.43338547A>G | CA339973253 | MPL | c.218A>G (p.Lys73Arg) c.197A>G (p.Lys66Arg) n.218A>G c.389A>G (p.Lys130Arg) | |
1 | g.43338547A>T | CA339973255 | MPL | c.218A>T (p.Lys73Met) c.197A>T (p.Lys66Met) n.218A>T c.389A>T (p.Lys130Met) | |
1 | g.43338548G>A | CA806616 | MPL | c.219G>A (p.Lys73=) c.198G>A (p.Lys66=) n.219G>A c.390G>A (p.Lys130=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.43338548G>C | CA339973259 | MPL | c.219G>C (p.Lys73Asn) c.198G>C (p.Lys66Asn) n.219G>C c.390G>C (p.Lys130Asn) | |
1 | g.43338548G= | CA1149054585 | MPL | c.219G= (p.Lys73=) c.198G= (p.Lys66=) n.219G= c.390G= (p.Lys130=) | |
1 | g.43338548G>T | CA339973261 | MPL | c.219G>T (p.Lys73Asn) c.198G>T (p.Lys66Asn) n.219G>T c.390G>T (p.Lys130Asn) | |
1 | g.43338549C>A | CA339973267 | MPL | c.220C>A (p.Pro74Thr) c.199C>A (p.Pro67Thr) n.220C>A c.391C>A (p.Pro131Thr) | |
1 | g.43338549C>G | CA339973265 | MPL | c.220C>G (p.Pro74Ala) c.199C>G (p.Pro67Ala) n.220C>G c.391C>G (p.Pro131Ala) | |
1 | g.43338549C>T | CA339973263 | MPL | c.220C>T (p.Pro74Ser) c.199C>T (p.Pro67Ser) n.220C>T c.391C>T (p.Pro131Ser) | |
1 | g.43338550C>A | CA339973269 | MPL | c.221C>A (p.Pro74His) c.200C>A (p.Pro67His) n.221C>A c.392C>A (p.Pro131His) | |
1 | g.43338550C>G | CA339973271 | MPL | c.221C>G (p.Pro74Arg) c.200C>G (p.Pro67Arg) n.221C>G c.392C>G (p.Pro131Arg) | |
1 | g.43338550C>T | CA339973274 | MPL | c.221C>T (p.Pro74Leu) c.200C>T (p.Pro67Leu) n.221C>T c.392C>T (p.Pro131Leu) | gnomAD v4 |
1 | g.43338551C>A | CA417417246 | MPL | c.222C>A (p.Pro74=) c.201C>A (p.Pro67=) n.222C>A c.393C>A (p.Pro131=) | |
1 | g.43338551C>G | CA417417247 | MPL | c.222C>G (p.Pro74=) c.201C>G (p.Pro67=) n.222C>G c.393C>G (p.Pro131=) | |
1 | g.43338551C>T | CA417417248 | MPL | c.222C>T (p.Pro74=) c.201C>T (p.Pro67=) n.222C>T c.393C>T (p.Pro131=) | |
1 | g.43338552C>A | CA339973277 | MPL | c.223C>A (p.Arg75Ser) c.202C>A (p.Arg68Ser) n.223C>A c.394C>A (p.Arg132Ser) | |
1 | g.43338552C= | CA1165576047 | MPL | c.223C= (p.Arg75=) c.202C= (p.Arg68=) n.223C= c.394C= (p.Arg132=) | |
1 | g.43338552C>G | CA339973279 | MPL | c.223C>G (p.Arg75Gly) c.202C>G (p.Arg68Gly) n.223C>G c.394C>G (p.Arg132Gly) | |
1 | g.43338552C>T | CA806617 | MPL | c.223C>T (p.Arg75Cys) c.202C>T (p.Arg68Cys) n.223C>T c.394C>T (p.Arg132Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.43338553del | CA2574340730 | MPL | c.224del (p.Arg75LeufsTer5) c.203del (p.Arg68LeufsTer5) n.224del c.395del (p.Arg132LeufsTer5) | |
1 | g.43338553G>A | CA806618 | MPL | c.224G>A (p.Arg75His) c.203G>A (p.Arg68His) n.224G>A c.395G>A (p.Arg132His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.43338553G>C | CA339973287 | MPL | c.224G>C (p.Arg75Pro) c.203G>C (p.Arg68Pro) n.224G>C c.395G>C (p.Arg132Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.43338553G= | CA1142230004 | MPL | c.224G= (p.Arg75=) c.203G= (p.Arg68=) n.224G= c.395G= (p.Arg132=) | |
1 | g.43338553G>T | CA339973284 | MPL | c.224G>T (p.Arg75Leu) c.203G>T (p.Arg68Leu) n.224G>T c.395G>T (p.Arg132Leu) | |
1 | g.43338554T>A | CA417417250 | MPL | c.225T>A (p.Arg75=) c.204T>A (p.Arg68=) n.225T>A c.396T>A (p.Arg132=) | |
1 | g.43338554T>C | CA417417251 | MPL | c.225T>C (p.Arg75=) c.204T>C (p.Arg68=) n.225T>C c.396T>C (p.Arg132=) | |
1 | g.43338554T>G | CA417417252 | MPL | c.225T>G (p.Arg75=) c.204T>G (p.Arg68=) n.225T>G c.396T>G (p.Arg132=) | |
1 | g.43338555G>A | CA339973292 | MPL | c.226G>A (p.Ala76Thr) c.205G>A (p.Ala69Thr) n.226G>A c.397G>A (p.Ala133Thr) | gnomAD v4 |
1 | g.43338555G>C | CA339973294 | MPL | c.226G>C (p.Ala76Pro) c.205G>C (p.Ala69Pro) n.226G>C c.397G>C (p.Ala133Pro) | |
1 | g.43338555G>T | CA339973295 | MPL | c.226G>T (p.Ala76Ser) c.205G>T (p.Ala69Ser) n.226G>T c.397G>T (p.Ala133Ser) | |
1 | g.43338556C>A | CA339973296 | MPL | c.227C>A (p.Ala76Asp) c.206C>A (p.Ala69Asp) n.227C>A c.398C>A (p.Ala133Asp) | gnomAD v4 |
1 | g.43338556C>G | CA339973297 | MPL | c.227C>G (p.Ala76Gly) c.206C>G (p.Ala69Gly) n.227C>G c.398C>G (p.Ala133Gly) | |
1 | g.43338556C>T | CA339973298 | MPL | c.227C>T (p.Ala76Val) c.206C>T (p.Ala69Val) n.227C>T c.398C>T (p.Ala133Val) | dbSNP |
1 | g.43338557T>A | CA417417257 | MPL | c.228T>A (p.Ala76=) c.207T>A (p.Ala69=) n.228T>A c.399T>A (p.Ala133=) | |
1 | g.43338557T>C | CA417417258 | MPL | c.228T>C (p.Ala76=) c.207T>C (p.Ala69=) n.228T>C c.399T>C (p.Ala133=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43338557T>G | CA417417259 | MPL | c.228T>G (p.Ala76=) c.207T>G (p.Ala69=) n.228T>G c.399T>G (p.Ala133=) | |
1 | g.43338557T= | CA1165576048 | MPL | c.228T= (p.Ala76=) c.207T= (p.Ala69=) n.228T= c.399T= (p.Ala133=) | |
1 | g.43338558T>A | CA339973299 | MPL | c.229T>A (p.Cys77Ser) c.208T>A (p.Cys70Ser) n.229T>A c.400T>A (p.Cys134Ser) | |
1 | g.43338558T>C | CA339973301 | MPL | c.229T>C (p.Cys77Arg) c.208T>C (p.Cys70Arg) n.229T>C c.400T>C (p.Cys134Arg) | |
1 | g.43338558T>G | CA339973300 | MPL | c.229T>G (p.Cys77Gly) c.208T>G (p.Cys70Gly) n.229T>G c.400T>G (p.Cys134Gly) | |
1 | g.43338558_43338559delinsTG | CA1165576049 | MPL | c.229_230delinsTG (p.Cys77=) c.208_209delinsTG (p.Cys70=) n.229_230delinsTG c.400_401delinsTG (p.Cys134=) | |
1 | g.43338559del | CA522806095 | MPL | c.230del (p.Cys77SerfsTer3) c.209del (p.Cys70SerfsTer3) n.230del c.401del (p.Cys134SerfsTer3) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43338559G>A | CA339973302 | MPL | c.230G>A (p.Cys77Tyr) c.209G>A (p.Cys70Tyr) n.230G>A c.401G>A (p.Cys134Tyr) | gnomAD v4 |
1 | g.43338559G>C | CA339973303 | MPL | c.230G>C (p.Cys77Ser) c.209G>C (p.Cys70Ser) n.230G>C c.401G>C (p.Cys134Ser) | |
1 | g.43338559G>T | CA339973304 | MPL | c.230G>T (p.Cys77Phe) c.209G>T (p.Cys70Phe) n.230G>T c.401G>T (p.Cys134Phe) | |
1 | g.43338560C>A | CA339973306 | MPL | c.231C>A (p.Cys77Ter) c.210C>A (p.Cys70Ter) n.231C>A c.402C>A (p.Cys134Ter) | |
1 | g.43338560C= | CA1148456681 | MPL | c.231C= (p.Cys77=) c.210C= (p.Cys70=) n.231C= c.402C= (p.Cys134=) | |
1 | g.43338560C>G | CA339973309 | MPL | c.231C>G (p.Cys77Trp) c.210C>G (p.Cys70Trp) n.231C>G c.402C>G (p.Cys134Trp) | |
1 | g.43338560C>T | CA806619 | MPL | c.231C>T (p.Cys77=) c.210C>T (p.Cys70=) n.231C>T c.402C>T (p.Cys134=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.43338564del | CA2695805548 | MPL | c.235del (p.Leu79Ter) c.214del (p.Leu72Ter) n.235del c.406del (p.Leu136Ter) | dbSNP |
1 | g.43338561C>A | CA339973314 | MPL | c.232C>A (p.Pro78Thr) c.211C>A (p.Pro71Thr) n.232C>A c.403C>A (p.Pro135Thr) | |
1 | g.43338561C>G | CA339973316 | MPL | c.232C>G (p.Pro78Ala) c.211C>G (p.Pro71Ala) n.232C>G c.403C>G (p.Pro135Ala) | |
1 | g.43338561C>T | CA339973318 | MPL | c.232C>T (p.Pro78Ser) c.211C>T (p.Pro71Ser) n.232C>T c.403C>T (p.Pro135Ser) | dbSNP |
1 | g.43338562C>A | CA339973321 | MPL | c.233C>A (p.Pro78His) c.212C>A (p.Pro71His) n.233C>A c.404C>A (p.Pro135His) | dbSNP |
1 | g.43338562C>G | CA339973323 | MPL | c.233C>G (p.Pro78Arg) c.212C>G (p.Pro71Arg) n.233C>G c.404C>G (p.Pro135Arg) | |
1 | g.43338562C>T | CA339973325 | MPL | c.233C>T (p.Pro78Leu) c.212C>T (p.Pro71Leu) n.233C>T c.404C>T (p.Pro135Leu) | |
1 | g.43338563C>A | CA417417268 | MPL | c.234C>A (p.Pro78=) c.213C>A (p.Pro71=) n.234C>A c.405C>A (p.Pro135=) | |
1 | g.43338563C>G | CA417417269 | MPL | c.234C>G (p.Pro78=) c.213C>G (p.Pro71=) n.234C>G c.405C>G (p.Pro135=) | ClinVar |
1 | g.43338563C>T | CA417417270 | MPL | c.234C>T (p.Pro78=) c.213C>T (p.Pro71=) n.234C>T c.405C>T (p.Pro135=) | ClinVar gnomAD v4 |
1 | g.43338563_43338565delinsCCT | CA1165576050 | MPL | c.234_236delinsCCT (p.Pro78=) c.213_215delinsCCT (p.Pro71=) n.234_236delinsCCT c.405_407delinsCCT (p.Pro135=) | |
1 | g.43338564C>A | CA339973328 | MPL | c.235C>A (p.Leu79Met) c.214C>A (p.Leu72Met) n.235C>A c.406C>A (p.Leu136Met) | dbSNP |
1 | g.43338564C>G | CA339973332 | MPL | c.235C>G (p.Leu79Val) c.214C>G (p.Leu72Val) n.235C>G c.406C>G (p.Leu136Val) | |
1 | g.43338564C>T | CA417417271 | MPL | c.235C>T (p.Leu79=) c.214C>T (p.Leu72=) n.235C>T c.406C>T (p.Leu136=) | |
1 | g.43338564_43338565del | CA160816 | MPL | c.235_236del (p.Leu79GlufsTer?) c.214_215del (p.Leu72GlufsTer?) n.235_236del c.406_407del (p.Leu136GlufsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43338564_43338565delinsCT | CA1148224235 | MPL | c.235_236delinsCT (p.Leu79=) c.214_215delinsCT (p.Leu72=) n.235_236delinsCT c.406_407delinsCT (p.Leu136=) | |
1 | g.43338565del | CA2580062789 | MPL | c.236del (p.Leu79ArgfsTer?) c.215del (p.Leu72ArgfsTer?) n.236del c.407del (p.Leu136ArgfsTer?) | ClinVar |
1 | g.43338565T>A | CA339973335 | MPL | c.236T>A (p.Leu79Gln) c.215T>A (p.Leu72Gln) n.236T>A c.407T>A (p.Leu136Gln) | |
1 | g.43338565T>C | CA339973339 | MPL | c.236T>C (p.Leu79Pro) c.215T>C (p.Leu72Pro) n.236T>C c.407T>C (p.Leu136Pro) | dbSNP |
1 | g.43338565T>G | CA339973337 | MPL | c.236T>G (p.Leu79Arg) c.215T>G (p.Leu72Arg) n.236T>G c.407T>G (p.Leu136Arg) | |
1 | g.43338565T= | CA1165576051 | MPL | c.236T= (p.Leu79=) c.215T= (p.Leu72=) n.236T= c.407T= (p.Leu136=) | |
1 | g.43338566G>A | CA417417276 | MPL | c.237G>A (p.Leu79=) c.216G>A (p.Leu72=) n.237G>A c.408G>A (p.Leu136=) | |
1 | g.43338566G>C | CA806620 | MPL | c.237G>C (p.Leu79=) c.216G>C (p.Leu72=) n.237G>C c.408G>C (p.Leu136=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43338566G= | CA1165576052 | MPL | c.237G= (p.Leu79=) c.216G= (p.Leu72=) n.237G= c.408G= (p.Leu136=) | |
1 | g.43338566G>T | CA417417278 | MPL | c.237G>T (p.Leu79=) c.216G>T (p.Leu72=) n.237G>T c.408G>T (p.Leu136=) | |
1 | g.43338567A>C | CA339973342 | MPL | c.238A>C (p.Ser80Arg) c.217A>C (p.Ser73Arg) n.238A>C c.409A>C (p.Ser137Arg) | |
1 | g.43338567A>G | CA339973344 | MPL | c.238A>G (p.Ser80Gly) c.217A>G (p.Ser73Gly) n.238A>G c.409A>G (p.Ser137Gly) | dbSNP |
1 | g.43338567A>T | CA339973346 | MPL | c.238A>T (p.Ser80Cys) c.217A>T (p.Ser73Cys) n.238A>T c.409A>T (p.Ser137Cys) | |
1 | g.43338568G>A | CA339973349 | MPL | c.239G>A (p.Ser80Asn) c.218G>A (p.Ser73Asn) n.239G>A c.410G>A (p.Ser137Asn) | |
1 | g.43338568G>C | CA339973351 | MPL | c.239G>C (p.Ser80Thr) c.218G>C (p.Ser73Thr) n.239G>C c.410G>C (p.Ser137Thr) | |
1 | g.43338568G>T | CA339973353 | MPL | c.239G>T (p.Ser80Ile) c.218G>T (p.Ser73Ile) n.239G>T c.410G>T (p.Ser137Ile) | |
1 | g.43338569T>A | CA339973356 | MPL | c.240T>A (p.Ser80Arg) c.219T>A (p.Ser73Arg) n.240T>A c.411T>A (p.Ser137Arg) | |
1 | g.43338569T>C | CA417417282 | MPL | c.240T>C (p.Ser80=) c.219T>C (p.Ser73=) n.240T>C c.411T>C (p.Ser137=) | |
1 | g.43338569T>G | CA339973358 | MPL | c.240T>G (p.Ser80Arg) c.219T>G (p.Ser73Arg) n.240T>G c.411T>G (p.Ser137Arg) | |
1 | g.43338570T>A | CA339973361 | MPL | c.241T>A (p.Ser81Thr) c.220T>A (p.Ser74Thr) n.241T>A c.412T>A (p.Ser138Thr) | |
1 | g.43338570T>C | CA339973364 | MPL | c.241T>C (p.Ser81Pro) c.220T>C (p.Ser74Pro) n.241T>C c.412T>C (p.Ser138Pro) | |
1 | g.43338570T>G | CA339973366 | MPL | c.241T>G (p.Ser81Ala) c.220T>G (p.Ser74Ala) n.241T>G c.412T>G (p.Ser138Ala) | |
1 | g.43338571C>A | CA339973373 | MPL | c.242C>A (p.Ser81Tyr) c.221C>A (p.Ser74Tyr) n.242C>A c.413C>A (p.Ser138Tyr) | |
1 | g.43338571C>G | CA339973369 | MPL | c.242C>G (p.Ser81Cys) c.221C>G (p.Ser74Cys) n.242C>G c.413C>G (p.Ser138Cys) | |
1 | g.43338571C>T | CA339973370 | MPL | c.242C>T (p.Ser81Phe) c.221C>T (p.Ser74Phe) n.242C>T c.413C>T (p.Ser138Phe) | ClinVar dbSNP COSMIC COSMIC |
1 | g.43338572C>A | CA417417288 | MPL | c.243C>A (p.Ser81=) c.222C>A (p.Ser74=) n.243C>A c.414C>A (p.Ser138=) | |
1 | g.43338572C= | CA1165576053 | MPL | c.243C= (p.Ser81=) c.222C= (p.Ser74=) n.243C= c.414C= (p.Ser138=) | |
1 | g.43338572C>G | CA417417289 | MPL | c.243C>G (p.Ser81=) c.222C>G (p.Ser74=) n.243C>G c.414C>G (p.Ser138=) | |
1 | g.43338572C>T | CA417417290 | MPL | c.243C>T (p.Ser81=) c.222C>T (p.Ser74=) n.243C>T c.414C>T (p.Ser138=) | dbSNP |
1 | g.43338573C>A | CA339973376 | MPL | c.244C>A (p.Gln82Lys) c.223C>A (p.Gln75Lys) n.244C>A c.415C>A (p.Gln139Lys) | |
1 | g.43338573C= | CA1165576054 | MPL | c.244C= (p.Gln82=) c.223C= (p.Gln75=) n.244C= c.415C= (p.Gln139=) | |
1 | g.43338573C>G | CA339973378 | MPL | c.244C>G (p.Gln82Glu) c.223C>G (p.Gln75Glu) n.244C>G c.415C>G (p.Gln139Glu) | |
1 | g.43338573C>T | CA339973379 | MPL | c.244C>T (p.Gln82Ter) c.223C>T (p.Gln75Ter) n.244C>T c.415C>T (p.Gln139Ter) | ClinVar dbSNP |
1 | g.43338574A= | CA1165576055 | MPL | c.245A= (p.Gln82=) c.224A= (p.Gln75=) n.245A= c.416A= (p.Gln139=) | |
1 | g.43338574A>C | CA339973383 | MPL | c.245A>C (p.Gln82Pro) c.224A>C (p.Gln75Pro) n.245A>C c.416A>C (p.Gln139Pro) | |
1 | g.43338574A>G | CA339973385 | MPL | c.245A>G (p.Gln82Arg) c.224A>G (p.Gln75Arg) n.245A>G c.416A>G (p.Gln139Arg) | dbSNP |
1 | g.43338574A>T | CA339973387 | MPL | c.245A>T (p.Gln82Leu) c.224A>T (p.Gln75Leu) n.245A>T c.416A>T (p.Gln139Leu) | |
1 | g.43338575G>A | CA417417293 | MPL | c.246G>A (p.Gln82=) c.225G>A (p.Gln75=) n.246G>A c.417G>A (p.Gln139=) | gnomAD v4 |
1 | g.43338575G>C | CA339973388 | MPL | c.246G>C (p.Gln82His) c.225G>C (p.Gln75His) n.246G>C c.417G>C (p.Gln139His) | |
1 | g.43338575G>T | CA339973389 | MPL | c.246G>T (p.Gln82His) c.225G>T (p.Gln75His) n.246G>T c.417G>T (p.Gln139His) | |
1 | g.43338576A>C | CA339973390 | MPL | c.247A>C (p.Ser83Arg) c.226A>C (p.Ser76Arg) n.247A>C c.418A>C (p.Ser140Arg) | |
1 | g.43338576A>G | CA339973391 | MPL | c.247A>G (p.Ser83Gly) c.226A>G (p.Ser76Gly) n.247A>G c.418A>G (p.Ser140Gly) | gnomAD v4 |
1 | g.43338576A>T | CA339973393 | MPL | c.247A>T (p.Ser83Cys) c.226A>T (p.Ser76Cys) n.247A>T c.418A>T (p.Ser140Cys) | |
1 | g.43338577G>A | CA339973396 | MPL | c.248G>A (p.Ser83Asn) c.227G>A (p.Ser76Asn) n.248G>A c.419G>A (p.Ser140Asn) | dbSNP gnomAD v4 |
1 | g.43338577G>C | CA339973395 | MPL | c.248G>C (p.Ser83Thr) c.227G>C (p.Ser76Thr) n.248G>C c.419G>C (p.Ser140Thr) | |
1 | g.43338577G>T | CA339973394 | MPL | c.248G>T (p.Ser83Ile) c.227G>T (p.Ser76Ile) n.248G>T c.419G>T (p.Ser140Ile) | |
1 | g.43338578C>A | CA339973397 | MPL | c.249C>A (p.Ser83Arg) c.228C>A (p.Ser76Arg) n.249C>A c.420C>A (p.Ser140Arg) | |
1 | g.43338578C>G | CA339973398 | MPL | c.249C>G (p.Ser83Arg) c.228C>G (p.Ser76Arg) n.249C>G c.420C>G (p.Ser140Arg) | |
1 | g.43338578C>T | CA417417300 | MPL | c.249C>T (p.Ser83=) c.228C>T (p.Ser76=) n.249C>T c.420C>T (p.Ser140=) | dbSNP |
1 | g.43338579A= | CA1165576056 | MPL | c.250A= (p.Met84=) c.229A= (p.Met77=) n.250A= c.421A= (p.Met141=) | |
1 | g.43338579A>C | CA339973399 | MPL | c.250A>C (p.Met84Leu) c.229A>C (p.Met77Leu) n.250A>C c.421A>C (p.Met141Leu) | |
1 | g.43338579A>G | CA806621 | MPL | c.250A>G (p.Met84Val) c.229A>G (p.Met77Val) n.250A>G c.421A>G (p.Met141Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.43338579A>T | CA339973400 | MPL | c.250A>T (p.Met84Leu) c.229A>T (p.Met77Leu) n.250A>T c.421A>T (p.Met141Leu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.43338580T>A | CA339973402 | MPL | c.251T>A (p.Met84Lys) c.230T>A (p.Met77Lys) n.251T>A c.422T>A (p.Met141Lys) | |
1 | g.43338580T>C | CA806622 | MPL | c.251T>C (p.Met84Thr) c.230T>C (p.Met77Thr) n.251T>C c.422T>C (p.Met141Thr) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.43338580T>G | CA339973401 | MPL | c.251T>G (p.Met84Arg) c.230T>G (p.Met77Arg) n.251T>G c.422T>G (p.Met141Arg) | |
1 | g.43338580T= | CA1148898459 | MPL | c.251T= (p.Met84=) c.230T= (p.Met77=) n.251T= c.422T= (p.Met141=) | |
1 | g.43338581del | CA2499214730 | MPL | c.252del (p.Met84IlefsTer28) c.231del (p.Met77IlefsTer28) n.252del c.423del (p.Met141IlefsTer28) | ClinVar dbSNP |
1 | g.43338581G>A | CA21607209 | MPL | c.252G>A (p.Met84Ile) c.231G>A (p.Met77Ile) n.252G>A c.423G>A (p.Met141Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43338581G>C | CA339973403 | MPL | c.252G>C (p.Met84Ile) c.231G>C (p.Met77Ile) n.252G>C c.423G>C (p.Met141Ile) | |
1 | g.43338581G= | CA1165576057 | MPL | c.252G= (p.Met84=) c.231G= (p.Met77=) n.252G= c.423G= (p.Met141=) | |
1 | g.43338581G>T | CA806623 | MPL | c.252G>T (p.Met84Ile) c.231G>T (p.Met77Ile) n.252G>T c.423G>T (p.Met141Ile) | dbSNP ExAC gnomAD v2 |
1 | g.43338582C>A | CA21607214 | MPL | c.253C>A (p.Pro85Thr) c.232C>A (p.Pro78Thr) n.253C>A c.424C>A (p.Pro142Thr) | dbSNP gnomAD v4 |
1 | g.43338582C= | CA1165576058 | MPL | c.253C= (p.Pro85=) c.232C= (p.Pro78=) n.253C= c.424C= (p.Pro142=) | |
1 | g.43338582C>G | CA339973405 | MPL | c.253C>G (p.Pro85Ala) c.232C>G (p.Pro78Ala) n.253C>G c.424C>G (p.Pro142Ala) | |
1 | g.43338582C>T | CA339973406 | MPL | c.253C>T (p.Pro85Ser) c.232C>T (p.Pro78Ser) n.253C>T c.424C>T (p.Pro142Ser) | dbSNP COSMIC |
1 | g.43338585dup | CA2840831601 | MPL | c.256dup (p.His86ProfsTer?) c.235dup (p.His79ProfsTer?) n.256dup c.427dup (p.His143ProfsTer?) | |
1 | g.43338583C>A | CA806624 | MPL | c.254C>A (p.Pro85His) c.233C>A (p.Pro78His) n.254C>A c.425C>A (p.Pro142His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43338583C= | CA1165576059 | MPL | c.254C= (p.Pro85=) c.233C= (p.Pro78=) n.254C= c.425C= (p.Pro142=) | |
1 | g.43338583C>G | CA339973408 | MPL | c.254C>G (p.Pro85Arg) c.233C>G (p.Pro78Arg) n.254C>G c.425C>G (p.Pro142Arg) | |
1 | g.43338583C>T | CA339973407 | MPL | c.254C>T (p.Pro85Leu) c.233C>T (p.Pro78Leu) n.254C>T c.425C>T (p.Pro142Leu) | dbSNP |
1 | g.43338584C>A | CA417417312 | MPL | c.255C>A (p.Pro85=) c.234C>A (p.Pro78=) n.255C>A c.426C>A (p.Pro142=) | dbSNP |
1 | g.43338584C= | CA1165576060 | MPL | c.255C= (p.Pro85=) c.234C= (p.Pro78=) n.255C= c.426C= (p.Pro142=) | |
1 | g.43338584C>G | CA417417313 | MPL | c.255C>G (p.Pro85=) c.234C>G (p.Pro78=) n.255C>G c.426C>G (p.Pro142=) | |
1 | g.43338584C>T | CA417417317 | MPL | c.255C>T (p.Pro85=) c.234C>T (p.Pro78=) n.255C>T c.426C>T (p.Pro142=) | ClinVar dbSNP gnomAD v4 |
1 | g.43338585C>A | CA339973409 | MPL | c.256C>A (p.His86Asn) c.235C>A (p.His79Asn) n.256C>A c.427C>A (p.His143Asn) | |
1 | g.43338585C>G | CA339973410 | MPL | c.256C>G (p.His86Asp) c.235C>G (p.His79Asp) n.256C>G c.427C>G (p.His143Asp) | |
1 | g.43338585C>T | CA339973411 | MPL | c.256C>T (p.His86Tyr) c.235C>T (p.His79Tyr) n.256C>T c.427C>T (p.His143Tyr) | |
1 | g.43338586A>C | CA339973412 | MPL | c.257A>C (p.His86Pro) c.236A>C (p.His79Pro) n.257A>C c.428A>C (p.His143Pro) | |
1 | g.43338586A>G | CA339973413 | MPL | c.257A>G (p.His86Arg) c.236A>G (p.His79Arg) n.257A>G c.428A>G (p.His143Arg) | |
1 | g.43338586A>T | CA339973414 | MPL | c.257A>T (p.His86Leu) c.236A>T (p.His79Leu) n.257A>T c.428A>T (p.His143Leu) | |
1 | g.43338587C>A | CA339973415 | MPL | c.258C>A (p.His86Gln) c.237C>A (p.His79Gln) n.258C>A c.429C>A (p.His143Gln) | |
1 | g.43338587C>G | CA339973416 | MPL | c.258C>G (p.His86Gln) c.237C>G (p.His79Gln) n.258C>G c.429C>G (p.His143Gln) | dbSNP |
1 | g.43338587C>T | CA417417326 | MPL | c.258C>T (p.His86=) c.237C>T (p.His79=) n.258C>T c.429C>T (p.His143=) | gnomAD v4 |
1 | g.43338588T>A | CA339973417 | MPL | c.259T>A (p.Phe87Ile) c.238T>A (p.Phe80Ile) n.259T>A c.430T>A (p.Phe144Ile) | |
1 | g.43338588T>C | CA339973418 | MPL | c.259T>C (p.Phe87Leu) c.238T>C (p.Phe80Leu) n.259T>C c.430T>C (p.Phe144Leu) | |
1 | g.43338588T>G | CA339973419 | MPL | c.259T>G (p.Phe87Val) c.238T>G (p.Phe80Val) n.259T>G c.430T>G (p.Phe144Val) | |
1 | g.43338589T>A | CA339973420 | MPL | c.260T>A (p.Phe87Tyr) c.239T>A (p.Phe80Tyr) n.260T>A c.431T>A (p.Phe144Tyr) | |
1 | g.43338589T>C | CA339973422 | MPL | c.260T>C (p.Phe87Ser) c.239T>C (p.Phe80Ser) n.260T>C c.431T>C (p.Phe144Ser) | |
1 | g.43338589T>G | CA339973421 | MPL | c.260T>G (p.Phe87Cys) c.239T>G (p.Phe80Cys) n.260T>G c.431T>G (p.Phe144Cys) | |
1 | g.43338590T>A | CA339973423 | MPL | c.261T>A (p.Phe87Leu) c.240T>A (p.Phe80Leu) n.261T>A c.432T>A (p.Phe144Leu) | |
1 | g.43338590T>C | CA417417330 | MPL | c.261T>C (p.Phe87=) c.240T>C (p.Phe80=) n.261T>C c.432T>C (p.Phe144=) | |
1 | g.43338590T>G | CA21607226 | MPL | c.261T>G (p.Phe87Leu) c.240T>G (p.Phe80Leu) n.261T>G c.432T>G (p.Phe144Leu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.43338590T= | CA1142381939 | MPL | c.261T= (p.Phe87=) c.240T= (p.Phe80=) n.261T= c.432T= (p.Phe144=) | |
1 | g.43338591G>A | CA339973424 | MPL | c.262G>A (p.Gly88Arg) c.241G>A (p.Gly81Arg) n.262G>A c.433G>A (p.Gly145Arg) | COSMIC COSMIC |
1 | g.43338591G>C | CA339973426 | MPL | c.262G>C (p.Gly88Arg) c.241G>C (p.Gly81Arg) n.262G>C c.433G>C (p.Gly145Arg) | |
1 | g.43338591G>T | CA339973425 | MPL | c.262G>T (p.Gly88Ter) c.241G>T (p.Gly81Ter) n.262G>T c.433G>T (p.Gly145Ter) | |
1 | g.43338592G>A | CA160818 | MPL | c.263G>A (p.Gly88Glu) c.242G>A (p.Gly81Glu) n.263G>A c.434G>A (p.Gly145Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43338592G>C | CA339973427 | MPL | c.263G>C (p.Gly88Ala) c.242G>C (p.Gly81Ala) n.263G>C c.434G>C (p.Gly145Ala) | |
1 | g.43338592G= | CA1148224237 | MPL | c.263G= (p.Gly88=) c.242G= (p.Gly81=) n.263G= c.434G= (p.Gly145=) | |
1 | g.43338592G>T | CA339973428 | MPL | c.263G>T (p.Gly88Val) c.242G>T (p.Gly81Val) n.263G>T c.434G>T (p.Gly145Val) | |
1 | g.43338593A= | CA1165576061 | MPL | c.264A= (p.Gly88=) c.243A= (p.Gly81=) n.264A= c.435A= (p.Gly145=) | |
1 | g.43338593A>C | CA417417334 | MPL | c.264A>C (p.Gly88=) c.243A>C (p.Gly81=) n.264A>C c.435A>C (p.Gly145=) | |
1 | g.43338593A>G | CA417417335 | MPL | c.264A>G (p.Gly88=) c.243A>G (p.Gly81=) n.264A>G c.435A>G (p.Gly145=) | dbSNP |
1 | g.43338593A>T | CA417417336 | MPL | c.264A>T (p.Gly88=) c.243A>T (p.Gly81=) n.264A>T c.435A>T (p.Gly145=) | ClinVar |
1 | g.43338594A>C | CA339973429 | MPL | c.265A>C (p.Thr89Pro) c.244A>C (p.Thr82Pro) n.265A>C c.436A>C (p.Thr146Pro) | |
1 | g.43338594A>G | CA339973430 | MPL | c.265A>G (p.Thr89Ala) c.244A>G (p.Thr82Ala) n.265A>G c.436A>G (p.Thr146Ala) | |
1 | g.43338594A>T | CA339973431 | MPL | c.265A>T (p.Thr89Ser) c.244A>T (p.Thr82Ser) n.265A>T c.436A>T (p.Thr146Ser) | |
1 | g.43338595C>A | CA339973432 | MPL | c.266C>A (p.Thr89Asn) c.245C>A (p.Thr82Asn) n.266C>A c.437C>A (p.Thr146Asn) | gnomAD v4 |
1 | g.43338595C= | CA1165576062 | MPL | c.266C= (p.Thr89=) c.245C= (p.Thr82=) n.266C= c.437C= (p.Thr146=) | |
1 | g.43338595C>G | CA339973433 | MPL | c.266C>G (p.Thr89Ser) c.245C>G (p.Thr82Ser) n.266C>G c.437C>G (p.Thr146Ser) | |
1 | g.43338595C>T | CA21607240 | MPL | c.266C>T (p.Thr89Ile) c.245C>T (p.Thr82Ile) n.266C>T c.437C>T (p.Thr146Ile) | dbSNP gnomAD v4 |
1 | g.43338596C>A | CA417417342 | MPL | c.267C>A (p.Thr89=) c.246C>A (p.Thr82=) n.267C>A c.438C>A (p.Thr146=) | gnomAD v4 |
1 | g.43338596C>G | CA417417344 | MPL | c.267C>G (p.Thr89=) c.246C>G (p.Thr82=) n.267C>G c.438C>G (p.Thr146=) | |
1 | g.43338596C>T | CA417417345 | MPL | c.267C>T (p.Thr89=) c.246C>T (p.Thr82=) n.267C>T c.438C>T (p.Thr146=) | |
1 | g.43338597C>A | CA417417346 | MPL | c.268C>A (p.Arg90=) c.247C>A (p.Arg83=) n.268C>A c.439C>A (p.Arg147=) | |
1 | g.43338597C= | CA1165576063 | MPL | c.268C= (p.Arg90=) c.247C= (p.Arg83=) n.268C= c.439C= (p.Arg147=) | |
1 | g.43338597C>G | CA339973434 | MPL | c.268C>G (p.Arg90Gly) c.247C>G (p.Arg83Gly) n.268C>G c.439C>G (p.Arg147Gly) | |
1 | g.43338597C>T | CA806625 | MPL | c.268C>T (p.Arg90Ter) c.247C>T (p.Arg83Ter) n.268C>T c.439C>T (p.Arg147Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.43338598G>A | CA806627 | MPL | c.269G>A (p.Arg90Gln) c.248G>A (p.Arg83Gln) n.269G>A c.440G>A (p.Arg147Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.43338598G>C | CA806626 | MPL | c.269G>C (p.Arg90Pro) c.248G>C (p.Arg83Pro) n.269G>C c.440G>C (p.Arg147Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43338598G= | CA1165576064 | MPL | c.269G= (p.Arg90=) c.248G= (p.Arg83=) n.269G= c.440G= (p.Arg147=) | |
1 | g.43338598G>T | CA339973435 | MPL | c.269G>T (p.Arg90Leu) c.248G>T (p.Arg83Leu) n.269G>T c.440G>T (p.Arg147Leu) | |
1 | g.43338599A>C | CA417417350 | MPL | c.270A>C (p.Arg90=) c.249A>C (p.Arg83=) n.270A>C c.441A>C (p.Arg147=) | |
1 | g.43338599A>G | CA417417351 | MPL | c.270A>G (p.Arg90=) c.249A>G (p.Arg83=) n.270A>G c.441A>G (p.Arg147=) | |
1 | g.43338599A>T | CA417417353 | MPL | c.270A>T (p.Arg90=) c.249A>T (p.Arg83=) n.270A>T c.441A>T (p.Arg147=) | dbSNP |
1 | g.43338600T>A | CA339973436 | MPL | c.271T>A (p.Tyr91Asn) c.250T>A (p.Tyr84Asn) n.271T>A c.442T>A (p.Tyr148Asn) | |
1 | g.43338600T>C | CA339973437 | MPL | c.271T>C (p.Tyr91His) c.250T>C (p.Tyr84His) n.271T>C c.442T>C (p.Tyr148His) | dbSNP gnomAD v4 |
1 | g.43338600T>G | CA339973438 | MPL | c.271T>G (p.Tyr91Asp) c.250T>G (p.Tyr84Asp) n.271T>G c.442T>G (p.Tyr148Asp) | |
1 | g.43338600T= | CA1165576065 | MPL | c.271T= (p.Tyr91=) c.250T= (p.Tyr84=) n.271T= c.442T= (p.Tyr148=) | |
1 | g.43338601A>C | CA339973439 | MPL | c.272A>C (p.Tyr91Ser) c.251A>C (p.Tyr84Ser) n.272A>C c.443A>C (p.Tyr148Ser) | |
1 | g.43338601A>G | CA339973440 | MPL | c.272A>G (p.Tyr91Cys) c.251A>G (p.Tyr84Cys) n.272A>G c.443A>G (p.Tyr148Cys) | |
1 | g.43338601A>T | CA339973441 | MPL | c.272A>T (p.Tyr91Phe) c.251A>T (p.Tyr84Phe) n.272A>T c.443A>T (p.Tyr148Phe) | |
1 | g.43338602C>A | CA339973442 | MPL | c.273C>A (p.Tyr91Ter) c.252C>A (p.Tyr84Ter) n.273C>A c.444C>A (p.Tyr148Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.43338602C= | CA1165576066 | MPL | c.273C= (p.Tyr91=) c.252C= (p.Tyr84=) n.273C= c.444C= (p.Tyr148=) | |
1 | g.43338602C>G | CA339973443 | MPL | c.273C>G (p.Tyr91Ter) c.252C>G (p.Tyr84Ter) n.273C>G c.444C>G (p.Tyr148Ter) | |
1 | g.43338602C>T | CA806628 | MPL | c.273C>T (p.Tyr91=) c.252C>T (p.Tyr84=) n.273C>T c.444C>T (p.Tyr148=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43338603G>A | CA339973444 | MPL | c.274G>A (p.Val92Met) c.253G>A (p.Val85Met) n.274G>A c.445G>A (p.Val149Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.43338603G>C | CA339973445 | MPL | c.274G>C (p.Val92Leu) c.253G>C (p.Val85Leu) n.274G>C c.445G>C (p.Val149Leu) | |
1 | g.43338603G= | CA1165576067 | MPL | c.274G= (p.Val92=) c.253G= (p.Val85=) n.274G= c.445G= (p.Val149=) | |
1 | g.43338603G>T | CA339973446 | MPL | c.274G>T (p.Val92Leu) c.253G>T (p.Val85Leu) n.274G>T c.445G>T (p.Val149Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43338604T>A | CA339973450 | MPL | c.275T>A (p.Val92Glu) c.254T>A (p.Val85Glu) n.275T>A c.446T>A (p.Val149Glu) | |
1 | g.43338604T>C | CA339973448 | MPL | c.275T>C (p.Val92Ala) c.254T>C (p.Val85Ala) n.275T>C c.446T>C (p.Val149Ala) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.43338604T>G | CA339973447 | MPL | c.275T>G (p.Val92Gly) c.254T>G (p.Val85Gly) n.275T>G c.446T>G (p.Val149Gly) | |
1 | g.43338604T= | CA1165576068 | MPL | c.275T= (p.Val92=) c.254T= (p.Val85=) n.275T= c.446T= (p.Val149=) | |
1 | g.43338605G>A | CA417417363 | MPL | c.276G>A (p.Val92=) c.255G>A (p.Val85=) n.276G>A c.447G>A (p.Val149=) | dbSNP |
1 | g.43338605G>C | CA417417366 | MPL | c.276G>C (p.Val92=) c.255G>C (p.Val85=) n.276G>C c.447G>C (p.Val149=) | |
1 | g.43338605G>T | CA417417370 | MPL | c.276G>T (p.Val92=) c.255G>T (p.Val85=) n.276G>T c.447G>T (p.Val149=) | |
1 | g.43338606T>A | CA339973452 | MPL | c.277T>A (p.Cys93Ser) c.256T>A (p.Cys86Ser) n.277T>A c.448T>A (p.Cys150Ser) | |
1 | g.43338606T>C | CA339973453 | MPL | c.277T>C (p.Cys93Arg) c.256T>C (p.Cys86Arg) n.277T>C c.448T>C (p.Cys150Arg) | dbSNP |
1 | g.43338606T>G | CA339973455 | MPL | c.277T>G (p.Cys93Gly) c.256T>G (p.Cys86Gly) n.277T>G c.448T>G (p.Cys150Gly) | |
1 | g.43338607_43338614dup | CA2740090652 | MPL | c.278_285dup (p.Pro96AlafsTer19) c.257_264dup (p.Pro89AlafsTer19) n.278_285dup c.449_456dup (p.Pro153AlafsTer19) | ClinVar |
1 | g.43338607del | CA2573049019 | MPL | c.278del (p.Cys93SerfsTer19) c.257del (p.Cys86SerfsTer19) n.278del c.449del (p.Cys150SerfsTer19) | |
1 | g.43338607G>A | CA339973458 | MPL | c.278G>A (p.Cys93Tyr) c.257G>A (p.Cys86Tyr) n.278G>A c.449G>A (p.Cys150Tyr) | dbSNP |
1 | g.43338607G>C | CA339973459 | MPL | c.278G>C (p.Cys93Ser) c.257G>C (p.Cys86Ser) n.278G>C c.449G>C (p.Cys150Ser) | |
1 | g.43338607G>T | CA339973460 | MPL | c.278G>T (p.Cys93Phe) c.257G>T (p.Cys86Phe) n.278G>T c.449G>T (p.Cys150Phe) | |
1 | g.43338608C>A | CA339973463 | MPL | c.279C>A (p.Cys93Ter) c.258C>A (p.Cys86Ter) n.279C>A c.450C>A (p.Cys150Ter) | |
1 | g.43338608C>G | CA339973464 | MPL | c.279C>G (p.Cys93Trp) c.258C>G (p.Cys86Trp) n.279C>G c.450C>G (p.Cys150Trp) | |
1 | g.43338608C>T | CA417417379 | MPL | c.279C>T (p.Cys93=) c.258C>T (p.Cys86=) n.279C>T c.450C>T (p.Cys150=) | ClinVar dbSNP gnomAD v4 |
1 | g.43338609C>A | CA339973466 | MPL | c.280C>A (p.Gln94Lys) c.259C>A (p.Gln87Lys) n.280C>A c.451C>A (p.Gln151Lys) | |
1 | g.43338609C= | CA1165576069 | MPL | c.280C= (p.Gln94=) c.259C= (p.Gln87=) n.280C= c.451C= (p.Gln151=) | |
1 | g.43338609C>G | CA339973468 | MPL | c.280C>G (p.Gln94Glu) c.259C>G (p.Gln87Glu) n.280C>G c.451C>G (p.Gln151Glu) | |
1 | g.43338609C>T | CA339973470 | MPL | c.280C>T (p.Gln94Ter) c.259C>T (p.Gln87Ter) n.280C>T c.451C>T (p.Gln151Ter) | ClinVar dbSNP |
1 | g.43338610A>C | CA339973472 | MPL | c.281A>C (p.Gln94Pro) c.260A>C (p.Gln87Pro) n.281A>C c.452A>C (p.Gln151Pro) | |
1 | g.43338610A>G | CA339973474 | MPL | c.281A>G (p.Gln94Arg) c.260A>G (p.Gln87Arg) n.281A>G c.452A>G (p.Gln151Arg) | |
1 | g.43338610A>T | CA339973476 | MPL | c.281A>T (p.Gln94Leu) c.260A>T (p.Gln87Leu) n.281A>T c.452A>T (p.Gln151Leu) | |
1 | g.43338611G>A | CA417417381 | MPL | c.282G>A (p.Gln94=) c.261G>A (p.Gln87=) n.282G>A c.453G>A (p.Gln151=) | dbSNP |
1 | g.43338611G>C | CA339973478 | MPL | c.282G>C (p.Gln94His) c.261G>C (p.Gln87His) n.282G>C c.453G>C (p.Gln151His) | |
1 | g.43338611G>T | CA339973480 | MPL | c.282G>T (p.Gln94His) c.261G>T (p.Gln87His) n.282G>T c.453G>T (p.Gln151His) | dbSNP |
1 | g.43338612T>A | CA339973482 | MPL | c.283T>A (p.Phe95Ile) c.262T>A (p.Phe88Ile) n.283T>A c.454T>A (p.Phe152Ile) | |
1 | g.43338612T>C | CA806629 | MPL | c.283T>C (p.Phe95Leu) c.262T>C (p.Phe88Leu) n.283T>C c.454T>C (p.Phe152Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43338612T>G | CA339973485 | MPL | c.283T>G (p.Phe95Val) c.262T>G (p.Phe88Val) n.283T>G c.454T>G (p.Phe152Val) | |
1 | g.43338612T= | CA1165576070 | MPL | c.283T= (p.Phe95=) c.262T= (p.Phe88=) n.283T= c.454T= (p.Phe152=) | |
1 | g.43338613T>A | CA339973487 | MPL | c.284T>A (p.Phe95Tyr) c.263T>A (p.Phe88Tyr) n.284T>A c.455T>A (p.Phe152Tyr) | |
1 | g.43338613T>C | CA339973489 | MPL | c.284T>C (p.Phe95Ser) c.263T>C (p.Phe88Ser) n.284T>C c.455T>C (p.Phe152Ser) | |
1 | g.43338613T>G | CA339973491 | MPL | c.284T>G (p.Phe95Cys) c.263T>G (p.Phe88Cys) n.284T>G c.455T>G (p.Phe152Cys) | |
1 | g.43338614T>A | CA339973493 | MPL | c.285T>A (p.Phe95Leu) c.264T>A (p.Phe88Leu) n.285T>A c.456T>A (p.Phe152Leu) | |
1 | g.43338614T>C | CA417417392 | MPL | c.285T>C (p.Phe95=) c.264T>C (p.Phe88=) n.285T>C c.456T>C (p.Phe152=) | |
1 | g.43338614T>G | CA339973495 | MPL | c.285T>G (p.Phe95Leu) c.264T>G (p.Phe88Leu) n.285T>G c.456T>G (p.Phe152Leu) | gnomAD v4 |
1 | g.43338615C>A | CA339973497 | MPL | c.286C>A (p.Pro96Thr) c.265C>A (p.Pro89Thr) n.286C>A c.457C>A (p.Pro153Thr) | |
1 | g.43338615C= | CA1165576071 | MPL | c.286C= (p.Pro96=) c.265C= (p.Pro89=) n.286C= c.457C= (p.Pro153=) | |
1 | g.43338615C>G | CA339973498 | MPL | c.286C>G (p.Pro96Ala) c.265C>G (p.Pro89Ala) n.286C>G c.457C>G (p.Pro153Ala) | |
1 | g.43338615C>T | CA339973500 | MPL | c.286C>T (p.Pro96Ser) c.265C>T (p.Pro89Ser) n.286C>T c.457C>T (p.Pro153Ser) | dbSNP gnomAD v4 |
1 | g.43338615_43338616insTTCT | CA2695806192 | MPL | c.286_287insTTCT (p.Pro96LeufsTer?) c.265_266insTTCT (p.Pro89LeufsTer?) n.286_287insTTCT c.457_458insTTCT (p.Pro153LeufsTer?) | dbSNP |
1 | g.43338616C>A | CA339973505 | MPL | c.287C>A (p.Pro96Gln) c.266C>A (p.Pro89Gln) n.287C>A c.458C>A (p.Pro153Gln) | |
1 | g.43338616C>G | CA339973504 | MPL | c.287C>G (p.Pro96Arg) c.266C>G (p.Pro89Arg) n.287C>G c.458C>G (p.Pro153Arg) | |
1 | g.43338616C>T | CA339973503 | MPL | c.287C>T (p.Pro96Leu) c.266C>T (p.Pro89Leu) n.287C>T c.458C>T (p.Pro153Leu) | |
1 | g.43338617A>C | CA417417394 | MPL | c.288A>C (p.Pro96=) c.267A>C (p.Pro89=) n.288A>C c.459A>C (p.Pro153=) | |
1 | g.43338617A>G | CA417417395 | MPL | c.288A>G (p.Pro96=) c.267A>G (p.Pro89=) n.288A>G c.459A>G (p.Pro153=) | |
1 | g.43338617A>T | CA417417397 | MPL | c.288A>T (p.Pro96=) c.267A>T (p.Pro89=) n.288A>T c.459A>T (p.Pro153=) | |
1 | g.43338617_43338618insCTGCCTGGGATAGGTGG | CA2695806195 | MPL | c.288_289insCTGCCTGGGATAGGTGG (p.Asp97LeufsTer21) c.267_268insCTGCCTGGGATAGGTGG (p.Asp90LeufsTer21) n.288_289insCTGCCTGGGATAGGTGG c.459_460insCTGCCTGGGATAGGTGG (p.Asp154LeufsTer21) | dbSNP |
1 | g.43338618G>A | CA339973508 | MPL | c.289G>A (p.Asp97Asn) c.268G>A (p.Asp90Asn) n.289G>A c.460G>A (p.Asp154Asn) | |
1 | g.43338618G>C | CA339973511 | MPL | c.289G>C (p.Asp97His) c.268G>C (p.Asp90His) n.289G>C c.460G>C (p.Asp154His) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.43338618G= | CA1165576072 | MPL | c.289G= (p.Asp97=) c.268G= (p.Asp90=) n.289G= c.460G= (p.Asp154=) | |
1 | g.43338618G>T | CA339973510 | MPL | c.289G>T (p.Asp97Tyr) c.268G>T (p.Asp90Tyr) n.289G>T c.460G>T (p.Asp154Tyr) | COSMIC |
1 | g.43338619A>C | CA339973514 | MPL | c.290A>C (p.Asp97Ala) c.269A>C (p.Asp90Ala) n.290A>C c.461A>C (p.Asp154Ala) | |
1 | g.43338619A>G | CA339973516 | MPL | c.290A>G (p.Asp97Gly) c.269A>G (p.Asp90Gly) n.290A>G c.461A>G (p.Asp154Gly) | gnomAD v4 |
1 | g.43338619A>T | CA339973518 | MPL | c.290A>T (p.Asp97Val) c.269A>T (p.Asp90Val) n.290A>T c.461A>T (p.Asp154Val) | |
1 | g.43338620C>A | CA339973520 | MPL | c.291C>A (p.Asp97Glu) c.270C>A (p.Asp90Glu) n.291C>A c.462C>A (p.Asp154Glu) | dbSNP |
1 | g.43338620C>G | CA339973521 | MPL | c.291C>G (p.Asp97Glu) c.270C>G (p.Asp90Glu) n.291C>G c.462C>G (p.Asp154Glu) | |
1 | g.43338620C>T | CA417417403 | MPL | c.291C>T (p.Asp97=) c.270C>T (p.Asp90=) n.291C>T c.462C>T (p.Asp154=) | |
1 | g.43338621C>A | CA339973524 | MPL | c.292C>A (p.Gln98Lys) c.271C>A (p.Gln91Lys) n.292C>A c.463C>A (p.Gln155Lys) | |
1 | g.43338621C= | CA1165576073 | MPL | c.292C= (p.Gln98=) c.271C= (p.Gln91=) n.292C= c.463C= (p.Gln155=) | |
1 | g.43338621C>G | CA806630 | MPL | c.292C>G (p.Gln98Glu) c.271C>G (p.Gln91Glu) n.292C>G c.463C>G (p.Gln155Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.43338621C>T | CA339973526 | MPL | c.292C>T (p.Gln98Ter) c.271C>T (p.Gln91Ter) n.292C>T c.463C>T (p.Gln155Ter) | ClinVar dbSNP |
1 | g.43338622A>C | CA339973529 | MPL | c.293A>C (p.Gln98Pro) c.272A>C (p.Gln91Pro) n.293A>C c.464A>C (p.Gln155Pro) | |
1 | g.43338622A>G | CA339973530 | MPL | c.293A>G (p.Gln98Arg) c.272A>G (p.Gln91Arg) n.293A>G c.464A>G (p.Gln155Arg) | |
1 | g.43338622A>T | CA339973532 | MPL | c.293A>T (p.Gln98Leu) c.272A>T (p.Gln91Leu) n.293A>T c.464A>T (p.Gln155Leu) | |
1 | g.43338623G>A | CA21607259 | MPL | c.294G>A (p.Gln98=) c.273G>A (p.Gln91=) n.294G>A c.465G>A (p.Gln155=) | dbSNP |
1 | g.43338623G>C | CA339973535 | MPL | c.294G>C (p.Gln98His) c.273G>C (p.Gln91His) n.294G>C c.465G>C (p.Gln155His) | |
1 | g.43338623G= | CA1165576074 | MPL | c.294G= (p.Gln98=) c.273G= (p.Gln91=) n.294G= c.465G= (p.Gln155=) | |
1 | g.43338623G>T | CA339973536 | MPL | c.294G>T (p.Gln98His) c.273G>T (p.Gln91His) n.294G>T c.465G>T (p.Gln155His) | |
1 | g.43338624G>A | CA21607262 | MPL | c.295G>A (p.Glu99Lys) c.274G>A (p.Glu92Lys) n.295G>A c.466G>A (p.Glu156Lys) | dbSNP |
1 | g.43338624G>C | CA339973542 | MPL | c.295G>C (p.Glu99Gln) c.274G>C (p.Glu92Gln) n.295G>C c.466G>C (p.Glu156Gln) | |
1 | g.43338624G= | CA1143537895 | MPL | c.295G= (p.Glu99=) c.274G= (p.Glu92=) n.295G= c.466G= (p.Glu156=) | |
1 | g.43338624G>T | CA339973540 | MPL | c.295G>T (p.Glu99Ter) c.274G>T (p.Glu92Ter) n.295G>T c.466G>T (p.Glu156Ter) | |
1 | g.43338625A>C | CA339973544 | MPL | c.296A>C (p.Glu99Ala) c.275A>C (p.Glu92Ala) n.296A>C c.467A>C (p.Glu156Ala) | |
1 | g.43338625A>G | CA339973546 | MPL | c.296A>G (p.Glu99Gly) c.275A>G (p.Glu92Gly) n.296A>G c.467A>G (p.Glu156Gly) | |
1 | g.43338625A>T | CA339973548 | MPL | c.296A>T (p.Glu99Val) c.275A>T (p.Glu92Val) n.296A>T c.467A>T (p.Glu156Val) | |
1 | g.43338625_43338626delinsAG | CA1165576075 | MPL | c.296_297delinsAG (p.Glu99=) c.275_276delinsAG (p.Glu92=) n.296_297delinsAG c.467_468delinsAG (p.Glu156=) | |
1 | g.43338626G>A | CA417417413 | MPL | c.297G>A (p.Glu99=) c.276G>A (p.Glu92=) n.297G>A c.468G>A (p.Glu156=) | gnomAD v4 COSMIC COSMIC |
1 | g.43338626G>C | CA339973550 | MPL | c.297G>C (p.Glu99Asp) c.276G>C (p.Glu92Asp) n.297G>C c.468G>C (p.Glu156Asp) | |
1 | g.43338626G>T | CA339973552 | MPL | c.297G>T (p.Glu99Asp) c.276G>T (p.Glu92Asp) n.297G>T c.468G>T (p.Glu156Asp) | |
1 | g.43338627del | CA522806113 | MPL | c.298del (p.Glu100LysfsTer12) c.277del (p.Glu93LysfsTer12) n.298del c.469del (p.Glu157LysfsTer12) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.43338627G>A | CA806631 | MPL | c.298G>A (p.Glu100Lys) c.277G>A (p.Glu93Lys) n.298G>A c.469G>A (p.Glu157Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.43338627G>C | CA339973555 | MPL | c.298G>C (p.Glu100Gln) c.277G>C (p.Glu93Gln) n.298G>C c.469G>C (p.Glu157Gln) | |
1 | g.43338627G= | CA1165576076 | MPL | c.298G= (p.Glu100=) c.277G= (p.Glu93=) n.298G= c.469G= (p.Glu157=) | |
1 | g.43338627G>T | CA339973556 | MPL | c.298G>T (p.Glu100Ter) c.277G>T (p.Glu93Ter) n.298G>T c.469G>T (p.Glu157Ter) | |
1 | g.43338628A= | CA1165576077 | MPL | c.299A= (p.Glu100=) c.278A= (p.Glu93=) n.299A= c.470A= (p.Glu157=) | |
1 | g.43338628A>C | CA339973559 | MPL | c.299A>C (p.Glu100Ala) c.278A>C (p.Glu93Ala) n.299A>C c.470A>C (p.Glu157Ala) | |
1 | g.43338628A>G | CA339973560 | MPL | c.299A>G (p.Glu100Gly) c.278A>G (p.Glu93Gly) n.299A>G c.470A>G (p.Glu157Gly) | |
1 | g.43338628A>T | CA339973562 | MPL | c.299A>T (p.Glu100Val) c.278A>T (p.Glu93Val) n.299A>T c.470A>T (p.Glu157Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.43338629A>C | CA339973564 | MPL | c.300A>C (p.Glu100Asp) c.279A>C (p.Glu93Asp) n.300A>C c.471A>C (p.Glu157Asp) | |
1 | g.43338629A>G | CA417417419 | MPL | c.300A>G (p.Glu100=) c.279A>G (p.Glu93=) n.300A>G c.471A>G (p.Glu157=) | |
1 | g.43338629A>T | CA339973566 | MPL | c.300A>T (p.Glu100Asp) c.279A>T (p.Glu93Asp) n.300A>T c.471A>T (p.Glu157Asp) | |
1 | g.43338630G>A | CA339973567 | MPL | c.301G>A (p.Val101Met) c.280G>A (p.Val94Met) n.301G>A c.472G>A (p.Val158Met) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.43338630G>C | CA339973569 | MPL | c.301G>C (p.Val101Leu) c.280G>C (p.Val94Leu) n.301G>C c.472G>C (p.Val158Leu) | |
1 | g.43338630G= | CA1165576078 | MPL | c.301G= (p.Val101=) c.280G= (p.Val94=) n.301G= c.472G= (p.Val158=) | |
1 | g.43338630G>T | CA339973571 | MPL | c.301G>T (p.Val101Leu) c.280G>T (p.Val94Leu) n.301G>T c.472G>T (p.Val158Leu) | |
1 | g.43338631T>A | CA339973574 | MPL | c.302T>A (p.Val101Glu) c.281T>A (p.Val94Glu) n.302T>A c.473T>A (p.Val158Glu) | |
1 | g.43338631T>C | CA339973575 | MPL | c.302T>C (p.Val101Ala) c.281T>C (p.Val94Ala) n.302T>C c.473T>C (p.Val158Ala) | |
1 | g.43338631T>G | CA339973576 | MPL | c.302T>G (p.Val101Gly) c.281T>G (p.Val94Gly) n.302T>G c.473T>G (p.Val158Gly) | |
1 | g.43338632G>A | CA417417422 | MPL | c.303G>A (p.Val101=) c.282G>A (p.Val94=) n.303G>A c.474G>A (p.Val158=) | gnomAD v4 |
1 | g.43338632G>C | CA417417423 | MPL | c.303G>C (p.Val101=) c.282G>C (p.Val94=) n.303G>C c.474G>C (p.Val158=) | |
1 | g.43338632G>T | CA417417424 | MPL | c.303G>T (p.Val101=) c.282G>T (p.Val94=) n.303G>T c.474G>T (p.Val158=) | |
1 | g.43338633C>A | CA339973579 | MPL | c.304C>A (p.Arg102Ser) c.283C>A (p.Arg95Ser) n.304C>A c.475C>A (p.Arg159Ser) | dbSNP |
1 | g.43338633C= | CA1165576079 | MPL | c.304C= (p.Arg102=) c.283C= (p.Arg95=) n.304C= c.475C= (p.Arg159=) | |
1 | g.43338633C>G | CA339973581 | MPL | c.304C>G (p.Arg102Gly) c.283C>G (p.Arg95Gly) n.304C>G c.475C>G (p.Arg159Gly) | |
1 | g.43338633C>T | CA806632 | MPL | c.304C>T (p.Arg102Cys) c.283C>T (p.Arg95Cys) n.304C>T c.475C>T (p.Arg159Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.43338634G>A | CA339973584 | MPL | c.305G>A (p.Arg102His) c.284G>A (p.Arg95His) n.305G>A c.476G>A (p.Arg159His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43338634G>C | CA123780 | MPL | c.305G>C (p.Arg102Pro) c.284G>C (p.Arg95Pro) n.305G>C c.476G>C (p.Arg159Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43338634G= | CA1140495612 | MPL | c.305G= (p.Arg102=) c.284G= (p.Arg95=) n.305G= c.476G= (p.Arg159=) | |
1 | g.43338634G>T | CA339973585 | MPL | c.305G>T (p.Arg102Leu) c.284G>T (p.Arg95Leu) n.305G>T c.476G>T (p.Arg159Leu) | |
1 | g.43338635T>A | CA417417429 | MPL | c.306T>A (p.Arg102=) c.285T>A (p.Arg95=) n.306T>A c.477T>A (p.Arg159=) | ClinVar dbSNP |
1 | g.43338635T>C | CA806633 | MPL | c.306T>C (p.Arg102=) c.285T>C (p.Arg95=) n.306T>C c.477T>C (p.Arg159=) | ClinVar dbSNP ExAC gnomAD v4 |
1 | g.43338635T>G | CA417417431 | MPL | c.306T>G (p.Arg102=) c.285T>G (p.Arg95=) n.306T>G c.477T>G (p.Arg159=) | |
1 | g.43338635T= | CA1141737540 | MPL | c.306T= (p.Arg102=) c.285T= (p.Arg95=) n.306T= c.477T= (p.Arg159=) | |
1 | g.43338636C>A | CA339973593 | MPL | c.307C>A (p.Leu103Ile) c.286C>A (p.Leu96Ile) n.307C>A c.478C>A (p.Leu160Ile) | dbSNP |
1 | g.43338636C>G | CA339973589 | MPL | c.307C>G (p.Leu103Val) c.286C>G (p.Leu96Val) n.307C>G c.478C>G (p.Leu160Val) | |
1 | g.43338636C>T | CA339973591 | MPL | c.307C>T (p.Leu103Phe) c.286C>T (p.Leu96Phe) n.307C>T c.478C>T (p.Leu160Phe) | gnomAD v4 |
1 | g.43338636_43338637delinsCT | CA1165576080 | MPL | c.307_308delinsCT (p.Leu103=) c.286_287delinsCT (p.Leu96=) n.307_308delinsCT c.478_479delinsCT (p.Leu160=) |