Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.43338546A>CCA339973243MPLc.217A>C (p.Lys73Gln)
c.196A>C (p.Lys66Gln)
n.217A>C
c.388A>C (p.Lys130Gln)
1g.43338546A>GCA339973246MPLc.217A>G (p.Lys73Glu)
c.196A>G (p.Lys66Glu)
n.217A>G
c.388A>G (p.Lys130Glu)
1g.43338546A>TCA339973248MPLc.217A>T (p.Lys73Ter)
c.196A>T (p.Lys66Ter)
n.217A>T
c.388A>T (p.Lys130Ter)
1g.43338547A>CCA339973251MPLc.218A>C (p.Lys73Thr)
c.197A>C (p.Lys66Thr)
n.218A>C
c.389A>C (p.Lys130Thr)
1g.43338547A>GCA339973253MPLc.218A>G (p.Lys73Arg)
c.197A>G (p.Lys66Arg)
n.218A>G
c.389A>G (p.Lys130Arg)
1g.43338547A>TCA339973255MPLc.218A>T (p.Lys73Met)
c.197A>T (p.Lys66Met)
n.218A>T
c.389A>T (p.Lys130Met)
1g.43338548G>ACA806616MPLc.219G>A (p.Lys73=)
c.198G>A (p.Lys66=)
n.219G>A
c.390G>A (p.Lys130=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.43338548G>CCA339973259MPLc.219G>C (p.Lys73Asn)
c.198G>C (p.Lys66Asn)
n.219G>C
c.390G>C (p.Lys130Asn)
1g.43338548G=CA1149054585MPLc.219G= (p.Lys73=)
c.198G= (p.Lys66=)
n.219G=
c.390G= (p.Lys130=)
1g.43338548G>TCA339973261MPLc.219G>T (p.Lys73Asn)
c.198G>T (p.Lys66Asn)
n.219G>T
c.390G>T (p.Lys130Asn)
1g.43338549C>ACA339973267MPLc.220C>A (p.Pro74Thr)
c.199C>A (p.Pro67Thr)
n.220C>A
c.391C>A (p.Pro131Thr)
1g.43338549C>GCA339973265MPLc.220C>G (p.Pro74Ala)
c.199C>G (p.Pro67Ala)
n.220C>G
c.391C>G (p.Pro131Ala)
1g.43338549C>TCA339973263MPLc.220C>T (p.Pro74Ser)
c.199C>T (p.Pro67Ser)
n.220C>T
c.391C>T (p.Pro131Ser)
1g.43338550C>ACA339973269MPLc.221C>A (p.Pro74His)
c.200C>A (p.Pro67His)
n.221C>A
c.392C>A (p.Pro131His)
1g.43338550C>GCA339973271MPLc.221C>G (p.Pro74Arg)
c.200C>G (p.Pro67Arg)
n.221C>G
c.392C>G (p.Pro131Arg)
1g.43338550C>TCA339973274MPLc.221C>T (p.Pro74Leu)
c.200C>T (p.Pro67Leu)
n.221C>T
c.392C>T (p.Pro131Leu)
 gnomAD v4
1g.43338551C>ACA417417246MPLc.222C>A (p.Pro74=)
c.201C>A (p.Pro67=)
n.222C>A
c.393C>A (p.Pro131=)
1g.43338551C>GCA417417247MPLc.222C>G (p.Pro74=)
c.201C>G (p.Pro67=)
n.222C>G
c.393C>G (p.Pro131=)
1g.43338551C>TCA417417248MPLc.222C>T (p.Pro74=)
c.201C>T (p.Pro67=)
n.222C>T
c.393C>T (p.Pro131=)
1g.43338552C>ACA339973277MPLc.223C>A (p.Arg75Ser)
c.202C>A (p.Arg68Ser)
n.223C>A
c.394C>A (p.Arg132Ser)
1g.43338552C=CA1165576047MPLc.223C= (p.Arg75=)
c.202C= (p.Arg68=)
n.223C=
c.394C= (p.Arg132=)
1g.43338552C>GCA339973279MPLc.223C>G (p.Arg75Gly)
c.202C>G (p.Arg68Gly)
n.223C>G
c.394C>G (p.Arg132Gly)
1g.43338552C>TCA806617MPLc.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
1g.43338553delCA2574340730MPLc.224del (p.Arg75LeufsTer5)
c.203del (p.Arg68LeufsTer5)
n.224del
c.395del (p.Arg132LeufsTer5)
1g.43338553G>ACA806618MPLc.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
1g.43338553G>CCA339973287MPLc.224G>C (p.Arg75Pro)
c.203G>C (p.Arg68Pro)
n.224G>C
c.395G>C (p.Arg132Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.43338553G=CA1142230004MPLc.224G= (p.Arg75=)
c.203G= (p.Arg68=)
n.224G=
c.395G= (p.Arg132=)
1g.43338553G>TCA339973284MPLc.224G>T (p.Arg75Leu)
c.203G>T (p.Arg68Leu)
n.224G>T
c.395G>T (p.Arg132Leu)
1g.43338554T>ACA417417250MPLc.225T>A (p.Arg75=)
c.204T>A (p.Arg68=)
n.225T>A
c.396T>A (p.Arg132=)
1g.43338554T>CCA417417251MPLc.225T>C (p.Arg75=)
c.204T>C (p.Arg68=)
n.225T>C
c.396T>C (p.Arg132=)
1g.43338554T>GCA417417252MPLc.225T>G (p.Arg75=)
c.204T>G (p.Arg68=)
n.225T>G
c.396T>G (p.Arg132=)
1g.43338555G>ACA339973292MPLc.226G>A (p.Ala76Thr)
c.205G>A (p.Ala69Thr)
n.226G>A
c.397G>A (p.Ala133Thr)
 gnomAD v4
1g.43338555G>CCA339973294MPLc.226G>C (p.Ala76Pro)
c.205G>C (p.Ala69Pro)
n.226G>C
c.397G>C (p.Ala133Pro)
1g.43338555G>TCA339973295MPLc.226G>T (p.Ala76Ser)
c.205G>T (p.Ala69Ser)
n.226G>T
c.397G>T (p.Ala133Ser)
1g.43338556C>ACA339973296MPLc.227C>A (p.Ala76Asp)
c.206C>A (p.Ala69Asp)
n.227C>A
c.398C>A (p.Ala133Asp)
 gnomAD v4
1g.43338556C>GCA339973297MPLc.227C>G (p.Ala76Gly)
c.206C>G (p.Ala69Gly)
n.227C>G
c.398C>G (p.Ala133Gly)
1g.43338556C>TCA339973298MPLc.227C>T (p.Ala76Val)
c.206C>T (p.Ala69Val)
n.227C>T
c.398C>T (p.Ala133Val)
 dbSNP
1g.43338557T>ACA417417257MPLc.228T>A (p.Ala76=)
c.207T>A (p.Ala69=)
n.228T>A
c.399T>A (p.Ala133=)
1g.43338557T>CCA417417258MPLc.228T>C (p.Ala76=)
c.207T>C (p.Ala69=)
n.228T>C
c.399T>C (p.Ala133=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.43338557T>GCA417417259MPLc.228T>G (p.Ala76=)
c.207T>G (p.Ala69=)
n.228T>G
c.399T>G (p.Ala133=)
1g.43338557T=CA1165576048MPLc.228T= (p.Ala76=)
c.207T= (p.Ala69=)
n.228T=
c.399T= (p.Ala133=)
1g.43338558T>ACA339973299MPLc.229T>A (p.Cys77Ser)
c.208T>A (p.Cys70Ser)
n.229T>A
c.400T>A (p.Cys134Ser)
1g.43338558T>CCA339973301MPLc.229T>C (p.Cys77Arg)
c.208T>C (p.Cys70Arg)
n.229T>C
c.400T>C (p.Cys134Arg)
1g.43338558T>GCA339973300MPLc.229T>G (p.Cys77Gly)
c.208T>G (p.Cys70Gly)
n.229T>G
c.400T>G (p.Cys134Gly)
1g.43338558_43338559delinsTGCA1165576049MPLc.229_230delinsTG (p.Cys77=)
c.208_209delinsTG (p.Cys70=)
n.229_230delinsTG
c.400_401delinsTG (p.Cys134=)
1g.43338559delCA522806095MPLc.230del (p.Cys77SerfsTer3)
c.209del (p.Cys70SerfsTer3)
n.230del
c.401del (p.Cys134SerfsTer3)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.43338559G>ACA339973302MPLc.230G>A (p.Cys77Tyr)
c.209G>A (p.Cys70Tyr)
n.230G>A
c.401G>A (p.Cys134Tyr)
 gnomAD v4
1g.43338559G>CCA339973303MPLc.230G>C (p.Cys77Ser)
c.209G>C (p.Cys70Ser)
n.230G>C
c.401G>C (p.Cys134Ser)
1g.43338559G>TCA339973304MPLc.230G>T (p.Cys77Phe)
c.209G>T (p.Cys70Phe)
n.230G>T
c.401G>T (p.Cys134Phe)
1g.43338560C>ACA339973306MPLc.231C>A (p.Cys77Ter)
c.210C>A (p.Cys70Ter)
n.231C>A
c.402C>A (p.Cys134Ter)
1g.43338560C=CA1148456681MPLc.231C= (p.Cys77=)
c.210C= (p.Cys70=)
n.231C=
c.402C= (p.Cys134=)
1g.43338560C>GCA339973309MPLc.231C>G (p.Cys77Trp)
c.210C>G (p.Cys70Trp)
n.231C>G
c.402C>G (p.Cys134Trp)
1g.43338560C>TCA806619MPLc.231C>T (p.Cys77=)
c.210C>T (p.Cys70=)
n.231C>T
c.402C>T (p.Cys134=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.43338564delCA2695805548MPLc.235del (p.Leu79Ter)
c.214del (p.Leu72Ter)
n.235del
c.406del (p.Leu136Ter)
 dbSNP
1g.43338561C>ACA339973314MPLc.232C>A (p.Pro78Thr)
c.211C>A (p.Pro71Thr)
n.232C>A
c.403C>A (p.Pro135Thr)
1g.43338561C>GCA339973316MPLc.232C>G (p.Pro78Ala)
c.211C>G (p.Pro71Ala)
n.232C>G
c.403C>G (p.Pro135Ala)
1g.43338561C>TCA339973318MPLc.232C>T (p.Pro78Ser)
c.211C>T (p.Pro71Ser)
n.232C>T
c.403C>T (p.Pro135Ser)
 dbSNP
1g.43338562C>ACA339973321MPLc.233C>A (p.Pro78His)
c.212C>A (p.Pro71His)
n.233C>A
c.404C>A (p.Pro135His)
 dbSNP
1g.43338562C>GCA339973323MPLc.233C>G (p.Pro78Arg)
c.212C>G (p.Pro71Arg)
n.233C>G
c.404C>G (p.Pro135Arg)
1g.43338562C>TCA339973325MPLc.233C>T (p.Pro78Leu)
c.212C>T (p.Pro71Leu)
n.233C>T
c.404C>T (p.Pro135Leu)
1g.43338563C>ACA417417268MPLc.234C>A (p.Pro78=)
c.213C>A (p.Pro71=)
n.234C>A
c.405C>A (p.Pro135=)
1g.43338563C>GCA417417269MPLc.234C>G (p.Pro78=)
c.213C>G (p.Pro71=)
n.234C>G
c.405C>G (p.Pro135=)
 ClinVar
1g.43338563C>TCA417417270MPLc.234C>T (p.Pro78=)
c.213C>T (p.Pro71=)
n.234C>T
c.405C>T (p.Pro135=)
 ClinVar gnomAD v4
1g.43338563_43338565delinsCCTCA1165576050MPLc.234_236delinsCCT (p.Pro78=)
c.213_215delinsCCT (p.Pro71=)
n.234_236delinsCCT
c.405_407delinsCCT (p.Pro135=)
1g.43338564C>ACA339973328MPLc.235C>A (p.Leu79Met)
c.214C>A (p.Leu72Met)
n.235C>A
c.406C>A (p.Leu136Met)
 dbSNP
1g.43338564C>GCA339973332MPLc.235C>G (p.Leu79Val)
c.214C>G (p.Leu72Val)
n.235C>G
c.406C>G (p.Leu136Val)
1g.43338564C>TCA417417271MPLc.235C>T (p.Leu79=)
c.214C>T (p.Leu72=)
n.235C>T
c.406C>T (p.Leu136=)
1g.43338564_43338565delCA160816MPLc.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
1g.43338564_43338565delinsCTCA1148224235MPLc.235_236delinsCT (p.Leu79=)
c.214_215delinsCT (p.Leu72=)
n.235_236delinsCT
c.406_407delinsCT (p.Leu136=)
1g.43338565delCA2580062789MPLc.236del (p.Leu79ArgfsTer?)
c.215del (p.Leu72ArgfsTer?)
n.236del
c.407del (p.Leu136ArgfsTer?)
 ClinVar
1g.43338565T>ACA339973335MPLc.236T>A (p.Leu79Gln)
c.215T>A (p.Leu72Gln)
n.236T>A
c.407T>A (p.Leu136Gln)
1g.43338565T>CCA339973339MPLc.236T>C (p.Leu79Pro)
c.215T>C (p.Leu72Pro)
n.236T>C
c.407T>C (p.Leu136Pro)
 dbSNP
1g.43338565T>GCA339973337MPLc.236T>G (p.Leu79Arg)
c.215T>G (p.Leu72Arg)
n.236T>G
c.407T>G (p.Leu136Arg)
1g.43338565T=CA1165576051MPLc.236T= (p.Leu79=)
c.215T= (p.Leu72=)
n.236T=
c.407T= (p.Leu136=)
1g.43338566G>ACA417417276MPLc.237G>A (p.Leu79=)
c.216G>A (p.Leu72=)
n.237G>A
c.408G>A (p.Leu136=)
1g.43338566G>CCA806620MPLc.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
1g.43338566G=CA1165576052MPLc.237G= (p.Leu79=)
c.216G= (p.Leu72=)
n.237G=
c.408G= (p.Leu136=)
1g.43338566G>TCA417417278MPLc.237G>T (p.Leu79=)
c.216G>T (p.Leu72=)
n.237G>T
c.408G>T (p.Leu136=)
1g.43338567A>CCA339973342MPLc.238A>C (p.Ser80Arg)
c.217A>C (p.Ser73Arg)
n.238A>C
c.409A>C (p.Ser137Arg)
1g.43338567A>GCA339973344MPLc.238A>G (p.Ser80Gly)
c.217A>G (p.Ser73Gly)
n.238A>G
c.409A>G (p.Ser137Gly)
 dbSNP
1g.43338567A>TCA339973346MPLc.238A>T (p.Ser80Cys)
c.217A>T (p.Ser73Cys)
n.238A>T
c.409A>T (p.Ser137Cys)
1g.43338568G>ACA339973349MPLc.239G>A (p.Ser80Asn)
c.218G>A (p.Ser73Asn)
n.239G>A
c.410G>A (p.Ser137Asn)
1g.43338568G>CCA339973351MPLc.239G>C (p.Ser80Thr)
c.218G>C (p.Ser73Thr)
n.239G>C
c.410G>C (p.Ser137Thr)
1g.43338568G>TCA339973353MPLc.239G>T (p.Ser80Ile)
c.218G>T (p.Ser73Ile)
n.239G>T
c.410G>T (p.Ser137Ile)
1g.43338569T>ACA339973356MPLc.240T>A (p.Ser80Arg)
c.219T>A (p.Ser73Arg)
n.240T>A
c.411T>A (p.Ser137Arg)
1g.43338569T>CCA417417282MPLc.240T>C (p.Ser80=)
c.219T>C (p.Ser73=)
n.240T>C
c.411T>C (p.Ser137=)
1g.43338569T>GCA339973358MPLc.240T>G (p.Ser80Arg)
c.219T>G (p.Ser73Arg)
n.240T>G
c.411T>G (p.Ser137Arg)
1g.43338570T>ACA339973361MPLc.241T>A (p.Ser81Thr)
c.220T>A (p.Ser74Thr)
n.241T>A
c.412T>A (p.Ser138Thr)
1g.43338570T>CCA339973364MPLc.241T>C (p.Ser81Pro)
c.220T>C (p.Ser74Pro)
n.241T>C
c.412T>C (p.Ser138Pro)
1g.43338570T>GCA339973366MPLc.241T>G (p.Ser81Ala)
c.220T>G (p.Ser74Ala)
n.241T>G
c.412T>G (p.Ser138Ala)
1g.43338571C>ACA339973373MPLc.242C>A (p.Ser81Tyr)
c.221C>A (p.Ser74Tyr)
n.242C>A
c.413C>A (p.Ser138Tyr)
1g.43338571C>GCA339973369MPLc.242C>G (p.Ser81Cys)
c.221C>G (p.Ser74Cys)
n.242C>G
c.413C>G (p.Ser138Cys)
1g.43338571C>TCA339973370MPLc.242C>T (p.Ser81Phe)
c.221C>T (p.Ser74Phe)
n.242C>T
c.413C>T (p.Ser138Phe)
 ClinVar dbSNP COSMIC COSMIC
1g.43338572C>ACA417417288MPLc.243C>A (p.Ser81=)
c.222C>A (p.Ser74=)
n.243C>A
c.414C>A (p.Ser138=)
1g.43338572C=CA1165576053MPLc.243C= (p.Ser81=)
c.222C= (p.Ser74=)
n.243C=
c.414C= (p.Ser138=)
1g.43338572C>GCA417417289MPLc.243C>G (p.Ser81=)
c.222C>G (p.Ser74=)
n.243C>G
c.414C>G (p.Ser138=)
1g.43338572C>TCA417417290MPLc.243C>T (p.Ser81=)
c.222C>T (p.Ser74=)
n.243C>T
c.414C>T (p.Ser138=)
 dbSNP
1g.43338573C>ACA339973376MPLc.244C>A (p.Gln82Lys)
c.223C>A (p.Gln75Lys)
n.244C>A
c.415C>A (p.Gln139Lys)
1g.43338573C=CA1165576054MPLc.244C= (p.Gln82=)
c.223C= (p.Gln75=)
n.244C=
c.415C= (p.Gln139=)
1g.43338573C>GCA339973378MPLc.244C>G (p.Gln82Glu)
c.223C>G (p.Gln75Glu)
n.244C>G
c.415C>G (p.Gln139Glu)
1g.43338573C>TCA339973379MPLc.244C>T (p.Gln82Ter)
c.223C>T (p.Gln75Ter)
n.244C>T
c.415C>T (p.Gln139Ter)
 ClinVar dbSNP
1g.43338574A=CA1165576055MPLc.245A= (p.Gln82=)
c.224A= (p.Gln75=)
n.245A=
c.416A= (p.Gln139=)
1g.43338574A>CCA339973383MPLc.245A>C (p.Gln82Pro)
c.224A>C (p.Gln75Pro)
n.245A>C
c.416A>C (p.Gln139Pro)
1g.43338574A>GCA339973385MPLc.245A>G (p.Gln82Arg)
c.224A>G (p.Gln75Arg)
n.245A>G
c.416A>G (p.Gln139Arg)
 dbSNP
1g.43338574A>TCA339973387MPLc.245A>T (p.Gln82Leu)
c.224A>T (p.Gln75Leu)
n.245A>T
c.416A>T (p.Gln139Leu)
1g.43338575G>ACA417417293MPLc.246G>A (p.Gln82=)
c.225G>A (p.Gln75=)
n.246G>A
c.417G>A (p.Gln139=)
 gnomAD v4
1g.43338575G>CCA339973388MPLc.246G>C (p.Gln82His)
c.225G>C (p.Gln75His)
n.246G>C
c.417G>C (p.Gln139His)
1g.43338575G>TCA339973389MPLc.246G>T (p.Gln82His)
c.225G>T (p.Gln75His)
n.246G>T
c.417G>T (p.Gln139His)
1g.43338576A>CCA339973390MPLc.247A>C (p.Ser83Arg)
c.226A>C (p.Ser76Arg)
n.247A>C
c.418A>C (p.Ser140Arg)
1g.43338576A>GCA339973391MPLc.247A>G (p.Ser83Gly)
c.226A>G (p.Ser76Gly)
n.247A>G
c.418A>G (p.Ser140Gly)
 gnomAD v4
1g.43338576A>TCA339973393MPLc.247A>T (p.Ser83Cys)
c.226A>T (p.Ser76Cys)
n.247A>T
c.418A>T (p.Ser140Cys)
1g.43338577G>ACA339973396MPLc.248G>A (p.Ser83Asn)
c.227G>A (p.Ser76Asn)
n.248G>A
c.419G>A (p.Ser140Asn)
 dbSNP gnomAD v4
1g.43338577G>CCA339973395MPLc.248G>C (p.Ser83Thr)
c.227G>C (p.Ser76Thr)
n.248G>C
c.419G>C (p.Ser140Thr)
1g.43338577G>TCA339973394MPLc.248G>T (p.Ser83Ile)
c.227G>T (p.Ser76Ile)
n.248G>T
c.419G>T (p.Ser140Ile)
1g.43338578C>ACA339973397MPLc.249C>A (p.Ser83Arg)
c.228C>A (p.Ser76Arg)
n.249C>A
c.420C>A (p.Ser140Arg)
1g.43338578C>GCA339973398MPLc.249C>G (p.Ser83Arg)
c.228C>G (p.Ser76Arg)
n.249C>G
c.420C>G (p.Ser140Arg)
1g.43338578C>TCA417417300MPLc.249C>T (p.Ser83=)
c.228C>T (p.Ser76=)
n.249C>T
c.420C>T (p.Ser140=)
 dbSNP
1g.43338579A=CA1165576056MPLc.250A= (p.Met84=)
c.229A= (p.Met77=)
n.250A=
c.421A= (p.Met141=)
1g.43338579A>CCA339973399MPLc.250A>C (p.Met84Leu)
c.229A>C (p.Met77Leu)
n.250A>C
c.421A>C (p.Met141Leu)
1g.43338579A>GCA806621MPLc.250A>G (p.Met84Val)
c.229A>G (p.Met77Val)
n.250A>G
c.421A>G (p.Met141Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.43338579A>TCA339973400MPLc.250A>T (p.Met84Leu)
c.229A>T (p.Met77Leu)
n.250A>T
c.421A>T (p.Met141Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.43338580T>ACA339973402MPLc.251T>A (p.Met84Lys)
c.230T>A (p.Met77Lys)
n.251T>A
c.422T>A (p.Met141Lys)
1g.43338580T>CCA806622MPLc.251T>C (p.Met84Thr)
c.230T>C (p.Met77Thr)
n.251T>C
c.422T>C (p.Met141Thr)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
1g.43338580T>GCA339973401MPLc.251T>G (p.Met84Arg)
c.230T>G (p.Met77Arg)
n.251T>G
c.422T>G (p.Met141Arg)
1g.43338580T=CA1148898459MPLc.251T= (p.Met84=)
c.230T= (p.Met77=)
n.251T=
c.422T= (p.Met141=)
1g.43338581delCA2499214730MPLc.252del (p.Met84IlefsTer28)
c.231del (p.Met77IlefsTer28)
n.252del
c.423del (p.Met141IlefsTer28)
 ClinVar dbSNP
1g.43338581G>ACA21607209MPLc.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
1g.43338581G>CCA339973403MPLc.252G>C (p.Met84Ile)
c.231G>C (p.Met77Ile)
n.252G>C
c.423G>C (p.Met141Ile)
1g.43338581G=CA1165576057MPLc.252G= (p.Met84=)
c.231G= (p.Met77=)
n.252G=
c.423G= (p.Met141=)
1g.43338581G>TCA806623MPLc.252G>T (p.Met84Ile)
c.231G>T (p.Met77Ile)
n.252G>T
c.423G>T (p.Met141Ile)
 dbSNP ExAC gnomAD v2
1g.43338582C>ACA21607214MPLc.253C>A (p.Pro85Thr)
c.232C>A (p.Pro78Thr)
n.253C>A
c.424C>A (p.Pro142Thr)
 dbSNP gnomAD v4
1g.43338582C=CA1165576058MPLc.253C= (p.Pro85=)
c.232C= (p.Pro78=)
n.253C=
c.424C= (p.Pro142=)
1g.43338582C>GCA339973405MPLc.253C>G (p.Pro85Ala)
c.232C>G (p.Pro78Ala)
n.253C>G
c.424C>G (p.Pro142Ala)
1g.43338582C>TCA339973406MPLc.253C>T (p.Pro85Ser)
c.232C>T (p.Pro78Ser)
n.253C>T
c.424C>T (p.Pro142Ser)
 dbSNP COSMIC
1g.43338583C>ACA806624MPLc.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
1g.43338583C=CA1165576059MPLc.254C= (p.Pro85=)
c.233C= (p.Pro78=)
n.254C=
c.425C= (p.Pro142=)
1g.43338583C>GCA339973408MPLc.254C>G (p.Pro85Arg)
c.233C>G (p.Pro78Arg)
n.254C>G
c.425C>G (p.Pro142Arg)
1g.43338583C>TCA339973407MPLc.254C>T (p.Pro85Leu)
c.233C>T (p.Pro78Leu)
n.254C>T
c.425C>T (p.Pro142Leu)
 dbSNP
1g.43338584C>ACA417417312MPLc.255C>A (p.Pro85=)
c.234C>A (p.Pro78=)
n.255C>A
c.426C>A (p.Pro142=)
 dbSNP
1g.43338584C=CA1165576060MPLc.255C= (p.Pro85=)
c.234C= (p.Pro78=)
n.255C=
c.426C= (p.Pro142=)
1g.43338584C>GCA417417313MPLc.255C>G (p.Pro85=)
c.234C>G (p.Pro78=)
n.255C>G
c.426C>G (p.Pro142=)
1g.43338584C>TCA417417317MPLc.255C>T (p.Pro85=)
c.234C>T (p.Pro78=)
n.255C>T
c.426C>T (p.Pro142=)
 ClinVar dbSNP gnomAD v4
1g.43338585C>ACA339973409MPLc.256C>A (p.His86Asn)
c.235C>A (p.His79Asn)
n.256C>A
c.427C>A (p.His143Asn)
1g.43338585C>GCA339973410MPLc.256C>G (p.His86Asp)
c.235C>G (p.His79Asp)
n.256C>G
c.427C>G (p.His143Asp)
1g.43338585C>TCA339973411MPLc.256C>T (p.His86Tyr)
c.235C>T (p.His79Tyr)
n.256C>T
c.427C>T (p.His143Tyr)
1g.43338586A>CCA339973412MPLc.257A>C (p.His86Pro)
c.236A>C (p.His79Pro)
n.257A>C
c.428A>C (p.His143Pro)
1g.43338586A>GCA339973413MPLc.257A>G (p.His86Arg)
c.236A>G (p.His79Arg)
n.257A>G
c.428A>G (p.His143Arg)
1g.43338586A>TCA339973414MPLc.257A>T (p.His86Leu)
c.236A>T (p.His79Leu)
n.257A>T
c.428A>T (p.His143Leu)
1g.43338587C>ACA339973415MPLc.258C>A (p.His86Gln)
c.237C>A (p.His79Gln)
n.258C>A
c.429C>A (p.His143Gln)
1g.43338587C>GCA339973416MPLc.258C>G (p.His86Gln)
c.237C>G (p.His79Gln)
n.258C>G
c.429C>G (p.His143Gln)
 dbSNP
1g.43338587C>TCA417417326MPLc.258C>T (p.His86=)
c.237C>T (p.His79=)
n.258C>T
c.429C>T (p.His143=)
 gnomAD v4
1g.43338588T>ACA339973417MPLc.259T>A (p.Phe87Ile)
c.238T>A (p.Phe80Ile)
n.259T>A
c.430T>A (p.Phe144Ile)
1g.43338588T>CCA339973418MPLc.259T>C (p.Phe87Leu)
c.238T>C (p.Phe80Leu)
n.259T>C
c.430T>C (p.Phe144Leu)
1g.43338588T>GCA339973419MPLc.259T>G (p.Phe87Val)
c.238T>G (p.Phe80Val)
n.259T>G
c.430T>G (p.Phe144Val)
1g.43338589T>ACA339973420MPLc.260T>A (p.Phe87Tyr)
c.239T>A (p.Phe80Tyr)
n.260T>A
c.431T>A (p.Phe144Tyr)
1g.43338589T>CCA339973422MPLc.260T>C (p.Phe87Ser)
c.239T>C (p.Phe80Ser)
n.260T>C
c.431T>C (p.Phe144Ser)
1g.43338589T>GCA339973421MPLc.260T>G (p.Phe87Cys)
c.239T>G (p.Phe80Cys)
n.260T>G
c.431T>G (p.Phe144Cys)
1g.43338590T>ACA339973423MPLc.261T>A (p.Phe87Leu)
c.240T>A (p.Phe80Leu)
n.261T>A
c.432T>A (p.Phe144Leu)
1g.43338590T>CCA417417330MPLc.261T>C (p.Phe87=)
c.240T>C (p.Phe80=)
n.261T>C
c.432T>C (p.Phe144=)
1g.43338590T>GCA21607226MPLc.261T>G (p.Phe87Leu)
c.240T>G (p.Phe80Leu)
n.261T>G
c.432T>G (p.Phe144Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.43338590T=CA1142381939MPLc.261T= (p.Phe87=)
c.240T= (p.Phe80=)
n.261T=
c.432T= (p.Phe144=)
1g.43338591G>ACA339973424MPLc.262G>A (p.Gly88Arg)
c.241G>A (p.Gly81Arg)
n.262G>A
c.433G>A (p.Gly145Arg)
 COSMIC COSMIC
1g.43338591G>CCA339973426MPLc.262G>C (p.Gly88Arg)
c.241G>C (p.Gly81Arg)
n.262G>C
c.433G>C (p.Gly145Arg)
1g.43338591G>TCA339973425MPLc.262G>T (p.Gly88Ter)
c.241G>T (p.Gly81Ter)
n.262G>T
c.433G>T (p.Gly145Ter)
1g.43338592G>ACA160818MPLc.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
1g.43338592G>CCA339973427MPLc.263G>C (p.Gly88Ala)
c.242G>C (p.Gly81Ala)
n.263G>C
c.434G>C (p.Gly145Ala)
1g.43338592G=CA1148224237MPLc.263G= (p.Gly88=)
c.242G= (p.Gly81=)
n.263G=
c.434G= (p.Gly145=)
1g.43338592G>TCA339973428MPLc.263G>T (p.Gly88Val)
c.242G>T (p.Gly81Val)
n.263G>T
c.434G>T (p.Gly145Val)
1g.43338593A=CA1165576061MPLc.264A= (p.Gly88=)
c.243A= (p.Gly81=)
n.264A=
c.435A= (p.Gly145=)
1g.43338593A>CCA417417334MPLc.264A>C (p.Gly88=)
c.243A>C (p.Gly81=)
n.264A>C
c.435A>C (p.Gly145=)
1g.43338593A>GCA417417335MPLc.264A>G (p.Gly88=)
c.243A>G (p.Gly81=)
n.264A>G
c.435A>G (p.Gly145=)
 dbSNP
1g.43338593A>TCA417417336MPLc.264A>T (p.Gly88=)
c.243A>T (p.Gly81=)
n.264A>T
c.435A>T (p.Gly145=)
 ClinVar
1g.43338594A>CCA339973429MPLc.265A>C (p.Thr89Pro)
c.244A>C (p.Thr82Pro)
n.265A>C
c.436A>C (p.Thr146Pro)
1g.43338594A>GCA339973430MPLc.265A>G (p.Thr89Ala)
c.244A>G (p.Thr82Ala)
n.265A>G
c.436A>G (p.Thr146Ala)
1g.43338594A>TCA339973431MPLc.265A>T (p.Thr89Ser)
c.244A>T (p.Thr82Ser)
n.265A>T
c.436A>T (p.Thr146Ser)
1g.43338595C>ACA339973432MPLc.266C>A (p.Thr89Asn)
c.245C>A (p.Thr82Asn)
n.266C>A
c.437C>A (p.Thr146Asn)
 gnomAD v4
1g.43338595C=CA1165576062MPLc.266C= (p.Thr89=)
c.245C= (p.Thr82=)
n.266C=
c.437C= (p.Thr146=)
1g.43338595C>GCA339973433MPLc.266C>G (p.Thr89Ser)
c.245C>G (p.Thr82Ser)
n.266C>G
c.437C>G (p.Thr146Ser)
1g.43338595C>TCA21607240MPLc.266C>T (p.Thr89Ile)
c.245C>T (p.Thr82Ile)
n.266C>T
c.437C>T (p.Thr146Ile)
 dbSNP gnomAD v4
1g.43338596C>ACA417417342MPLc.267C>A (p.Thr89=)
c.246C>A (p.Thr82=)
n.267C>A
c.438C>A (p.Thr146=)
 gnomAD v4
1g.43338596C>GCA417417344MPLc.267C>G (p.Thr89=)
c.246C>G (p.Thr82=)
n.267C>G
c.438C>G (p.Thr146=)
1g.43338596C>TCA417417345MPLc.267C>T (p.Thr89=)
c.246C>T (p.Thr82=)
n.267C>T
c.438C>T (p.Thr146=)
1g.43338597C>ACA417417346MPLc.268C>A (p.Arg90=)
c.247C>A (p.Arg83=)
n.268C>A
c.439C>A (p.Arg147=)
1g.43338597C=CA1165576063MPLc.268C= (p.Arg90=)
c.247C= (p.Arg83=)
n.268C=
c.439C= (p.Arg147=)
1g.43338597C>GCA339973434MPLc.268C>G (p.Arg90Gly)
c.247C>G (p.Arg83Gly)
n.268C>G
c.439C>G (p.Arg147Gly)
1g.43338597C>TCA806625MPLc.268C>T (p.Arg90Ter)
c.247C>T (p.Arg83Ter)
n.268C>T
c.439C>T (p.Arg147Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.43338598G>ACA806627MPLc.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
1g.43338598G>CCA806626MPLc.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
1g.43338598G=CA1165576064MPLc.269G= (p.Arg90=)
c.248G= (p.Arg83=)
n.269G=
c.440G= (p.Arg147=)
1g.43338598G>TCA339973435MPLc.269G>T (p.Arg90Leu)
c.248G>T (p.Arg83Leu)
n.269G>T
c.440G>T (p.Arg147Leu)
1g.43338599A>CCA417417350MPLc.270A>C (p.Arg90=)
c.249A>C (p.Arg83=)
n.270A>C
c.441A>C (p.Arg147=)
1g.43338599A>GCA417417351MPLc.270A>G (p.Arg90=)
c.249A>G (p.Arg83=)
n.270A>G
c.441A>G (p.Arg147=)
1g.43338599A>TCA417417353MPLc.270A>T (p.Arg90=)
c.249A>T (p.Arg83=)
n.270A>T
c.441A>T (p.Arg147=)
 dbSNP
1g.43338600T>ACA339973436MPLc.271T>A (p.Tyr91Asn)
c.250T>A (p.Tyr84Asn)
n.271T>A
c.442T>A (p.Tyr148Asn)
1g.43338600T>CCA339973437MPLc.271T>C (p.Tyr91His)
c.250T>C (p.Tyr84His)
n.271T>C
c.442T>C (p.Tyr148His)
 dbSNP gnomAD v4
1g.43338600T>GCA339973438MPLc.271T>G (p.Tyr91Asp)
c.250T>G (p.Tyr84Asp)
n.271T>G
c.442T>G (p.Tyr148Asp)
1g.43338600T=CA1165576065MPLc.271T= (p.Tyr91=)
c.250T= (p.Tyr84=)
n.271T=
c.442T= (p.Tyr148=)
1g.43338601A>CCA339973439MPLc.272A>C (p.Tyr91Ser)
c.251A>C (p.Tyr84Ser)
n.272A>C
c.443A>C (p.Tyr148Ser)
1g.43338601A>GCA339973440MPLc.272A>G (p.Tyr91Cys)
c.251A>G (p.Tyr84Cys)
n.272A>G
c.443A>G (p.Tyr148Cys)
1g.43338601A>TCA339973441MPLc.272A>T (p.Tyr91Phe)
c.251A>T (p.Tyr84Phe)
n.272A>T
c.443A>T (p.Tyr148Phe)
1g.43338602C>ACA339973442MPLc.273C>A (p.Tyr91Ter)
c.252C>A (p.Tyr84Ter)
n.273C>A
c.444C>A (p.Tyr148Ter)
 ClinVar dbSNP gnomAD v4
1g.43338602C=CA1165576066MPLc.273C= (p.Tyr91=)
c.252C= (p.Tyr84=)
n.273C=
c.444C= (p.Tyr148=)
1g.43338602C>GCA339973443MPLc.273C>G (p.Tyr91Ter)
c.252C>G (p.Tyr84Ter)
n.273C>G
c.444C>G (p.Tyr148Ter)
1g.43338602C>TCA806628MPLc.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
1g.43338603G>ACA339973444MPLc.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
1g.43338603G>CCA339973445MPLc.274G>C (p.Val92Leu)
c.253G>C (p.Val85Leu)
n.274G>C
c.445G>C (p.Val149Leu)
1g.43338603G=CA1165576067MPLc.274G= (p.Val92=)
c.253G= (p.Val85=)
n.274G=
c.445G= (p.Val149=)
1g.43338603G>TCA339973446MPLc.274G>T (p.Val92Leu)
c.253G>T (p.Val85Leu)
n.274G>T
c.445G>T (p.Val149Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.43338604T>ACA339973450MPLc.275T>A (p.Val92Glu)
c.254T>A (p.Val85Glu)
n.275T>A
c.446T>A (p.Val149Glu)
1g.43338604T>CCA339973448MPLc.275T>C (p.Val92Ala)
c.254T>C (p.Val85Ala)
n.275T>C
c.446T>C (p.Val149Ala)
 dbSNP gnomAD v2 gnomAD v4
1g.43338604T>GCA339973447MPLc.275T>G (p.Val92Gly)
c.254T>G (p.Val85Gly)
n.275T>G
c.446T>G (p.Val149Gly)
1g.43338604T=CA1165576068MPLc.275T= (p.Val92=)
c.254T= (p.Val85=)
n.275T=
c.446T= (p.Val149=)
1g.43338605G>ACA417417363MPLc.276G>A (p.Val92=)
c.255G>A (p.Val85=)
n.276G>A
c.447G>A (p.Val149=)
 dbSNP
1g.43338605G>CCA417417366MPLc.276G>C (p.Val92=)
c.255G>C (p.Val85=)
n.276G>C
c.447G>C (p.Val149=)
1g.43338605G>TCA417417370MPLc.276G>T (p.Val92=)
c.255G>T (p.Val85=)
n.276G>T
c.447G>T (p.Val149=)
1g.43338606T>ACA339973452MPLc.277T>A (p.Cys93Ser)
c.256T>A (p.Cys86Ser)
n.277T>A
c.448T>A (p.Cys150Ser)
1g.43338606T>CCA339973453MPLc.277T>C (p.Cys93Arg)
c.256T>C (p.Cys86Arg)
n.277T>C
c.448T>C (p.Cys150Arg)
 dbSNP
1g.43338606T>GCA339973455MPLc.277T>G (p.Cys93Gly)
c.256T>G (p.Cys86Gly)
n.277T>G
c.448T>G (p.Cys150Gly)
1g.43338607_43338614dupCA2740090652MPLc.278_285dup (p.Pro96AlafsTer19)
c.257_264dup (p.Pro89AlafsTer19)
n.278_285dup
c.449_456dup (p.Pro153AlafsTer19)
 ClinVar
1g.43338607delCA2573049019MPLc.278del (p.Cys93SerfsTer19)
c.257del (p.Cys86SerfsTer19)
n.278del
c.449del (p.Cys150SerfsTer19)
1g.43338607G>ACA339973458MPLc.278G>A (p.Cys93Tyr)
c.257G>A (p.Cys86Tyr)
n.278G>A
c.449G>A (p.Cys150Tyr)
 dbSNP
1g.43338607G>CCA339973459MPLc.278G>C (p.Cys93Ser)
c.257G>C (p.Cys86Ser)
n.278G>C
c.449G>C (p.Cys150Ser)
1g.43338607G>TCA339973460MPLc.278G>T (p.Cys93Phe)
c.257G>T (p.Cys86Phe)
n.278G>T
c.449G>T (p.Cys150Phe)
1g.43338608C>ACA339973463MPLc.279C>A (p.Cys93Ter)
c.258C>A (p.Cys86Ter)
n.279C>A
c.450C>A (p.Cys150Ter)
1g.43338608C>GCA339973464MPLc.279C>G (p.Cys93Trp)
c.258C>G (p.Cys86Trp)
n.279C>G
c.450C>G (p.Cys150Trp)
1g.43338608C>TCA417417379MPLc.279C>T (p.Cys93=)
c.258C>T (p.Cys86=)
n.279C>T
c.450C>T (p.Cys150=)
 ClinVar dbSNP gnomAD v4
1g.43338609C>ACA339973466MPLc.280C>A (p.Gln94Lys)
c.259C>A (p.Gln87Lys)
n.280C>A
c.451C>A (p.Gln151Lys)
1g.43338609C=CA1165576069MPLc.280C= (p.Gln94=)
c.259C= (p.Gln87=)
n.280C=
c.451C= (p.Gln151=)
1g.43338609C>GCA339973468MPLc.280C>G (p.Gln94Glu)
c.259C>G (p.Gln87Glu)
n.280C>G
c.451C>G (p.Gln151Glu)
1g.43338609C>TCA339973470MPLc.280C>T (p.Gln94Ter)
c.259C>T (p.Gln87Ter)
n.280C>T
c.451C>T (p.Gln151Ter)
 ClinVar dbSNP
1g.43338610A>CCA339973472MPLc.281A>C (p.Gln94Pro)
c.260A>C (p.Gln87Pro)
n.281A>C
c.452A>C (p.Gln151Pro)
1g.43338610A>GCA339973474MPLc.281A>G (p.Gln94Arg)
c.260A>G (p.Gln87Arg)
n.281A>G
c.452A>G (p.Gln151Arg)
1g.43338610A>TCA339973476MPLc.281A>T (p.Gln94Leu)
c.260A>T (p.Gln87Leu)
n.281A>T
c.452A>T (p.Gln151Leu)
1g.43338611G>ACA417417381MPLc.282G>A (p.Gln94=)
c.261G>A (p.Gln87=)
n.282G>A
c.453G>A (p.Gln151=)
 dbSNP
1g.43338611G>CCA339973478MPLc.282G>C (p.Gln94His)
c.261G>C (p.Gln87His)
n.282G>C
c.453G>C (p.Gln151His)
1g.43338611G>TCA339973480MPLc.282G>T (p.Gln94His)
c.261G>T (p.Gln87His)
n.282G>T
c.453G>T (p.Gln151His)
 dbSNP
1g.43338612T>ACA339973482MPLc.283T>A (p.Phe95Ile)
c.262T>A (p.Phe88Ile)
n.283T>A
c.454T>A (p.Phe152Ile)
1g.43338612T>CCA806629MPLc.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
1g.43338612T>GCA339973485MPLc.283T>G (p.Phe95Val)
c.262T>G (p.Phe88Val)
n.283T>G
c.454T>G (p.Phe152Val)
1g.43338612T=CA1165576070MPLc.283T= (p.Phe95=)
c.262T= (p.Phe88=)
n.283T=
c.454T= (p.Phe152=)
1g.43338613T>ACA339973487MPLc.284T>A (p.Phe95Tyr)
c.263T>A (p.Phe88Tyr)
n.284T>A
c.455T>A (p.Phe152Tyr)
1g.43338613T>CCA339973489MPLc.284T>C (p.Phe95Ser)
c.263T>C (p.Phe88Ser)
n.284T>C
c.455T>C (p.Phe152Ser)
1g.43338613T>GCA339973491MPLc.284T>G (p.Phe95Cys)
c.263T>G (p.Phe88Cys)
n.284T>G
c.455T>G (p.Phe152Cys)
1g.43338614T>ACA339973493MPLc.285T>A (p.Phe95Leu)
c.264T>A (p.Phe88Leu)
n.285T>A
c.456T>A (p.Phe152Leu)
1g.43338614T>CCA417417392MPLc.285T>C (p.Phe95=)
c.264T>C (p.Phe88=)
n.285T>C
c.456T>C (p.Phe152=)
1g.43338614T>GCA339973495MPLc.285T>G (p.Phe95Leu)
c.264T>G (p.Phe88Leu)
n.285T>G
c.456T>G (p.Phe152Leu)
 gnomAD v4
1g.43338615C>ACA339973497MPLc.286C>A (p.Pro96Thr)
c.265C>A (p.Pro89Thr)
n.286C>A
c.457C>A (p.Pro153Thr)
1g.43338615C=CA1165576071MPLc.286C= (p.Pro96=)
c.265C= (p.Pro89=)
n.286C=
c.457C= (p.Pro153=)
1g.43338615C>GCA339973498MPLc.286C>G (p.Pro96Ala)
c.265C>G (p.Pro89Ala)
n.286C>G
c.457C>G (p.Pro153Ala)
1g.43338615C>TCA339973500MPLc.286C>T (p.Pro96Ser)
c.265C>T (p.Pro89Ser)
n.286C>T
c.457C>T (p.Pro153Ser)
 dbSNP gnomAD v4
1g.43338615_43338616insTTCTCA2695806192MPLc.286_287insTTCT (p.Pro96LeufsTer?)
c.265_266insTTCT (p.Pro89LeufsTer?)
n.286_287insTTCT
c.457_458insTTCT (p.Pro153LeufsTer?)
 dbSNP
1g.43338616C>ACA339973505MPLc.287C>A (p.Pro96Gln)
c.266C>A (p.Pro89Gln)
n.287C>A
c.458C>A (p.Pro153Gln)
1g.43338616C>GCA339973504MPLc.287C>G (p.Pro96Arg)
c.266C>G (p.Pro89Arg)
n.287C>G
c.458C>G (p.Pro153Arg)
1g.43338616C>TCA339973503MPLc.287C>T (p.Pro96Leu)
c.266C>T (p.Pro89Leu)
n.287C>T
c.458C>T (p.Pro153Leu)
1g.43338617A>CCA417417394MPLc.288A>C (p.Pro96=)
c.267A>C (p.Pro89=)
n.288A>C
c.459A>C (p.Pro153=)
1g.43338617A>GCA417417395MPLc.288A>G (p.Pro96=)
c.267A>G (p.Pro89=)
n.288A>G
c.459A>G (p.Pro153=)
1g.43338617A>TCA417417397MPLc.288A>T (p.Pro96=)
c.267A>T (p.Pro89=)
n.288A>T
c.459A>T (p.Pro153=)
1g.43338617_43338618insCTGCCTGGGATAGGTGGCA2695806195MPLc.288_289insCTGCCTGGGATAGGTGG (p.Asp97LeufsTer21)
c.267_268insCTGCCTGGGATAGGTGG (p.Asp90LeufsTer21)
n.288_289insCTGCCTGGGATAGGTGG
c.459_460insCTGCCTGGGATAGGTGG (p.Asp154LeufsTer21)
 dbSNP
1g.43338618G>ACA339973508MPLc.289G>A (p.Asp97Asn)
c.268G>A (p.Asp90Asn)
n.289G>A
c.460G>A (p.Asp154Asn)
1g.43338618G>CCA339973511MPLc.289G>C (p.Asp97His)
c.268G>C (p.Asp90His)
n.289G>C
c.460G>C (p.Asp154His)
 dbSNP gnomAD v2 gnomAD v4
1g.43338618G=CA1165576072MPLc.289G= (p.Asp97=)
c.268G= (p.Asp90=)
n.289G=
c.460G= (p.Asp154=)
1g.43338618G>TCA339973510MPLc.289G>T (p.Asp97Tyr)
c.268G>T (p.Asp90Tyr)
n.289G>T
c.460G>T (p.Asp154Tyr)
 COSMIC
1g.43338619A>CCA339973514MPLc.290A>C (p.Asp97Ala)
c.269A>C (p.Asp90Ala)
n.290A>C
c.461A>C (p.Asp154Ala)
1g.43338619A>GCA339973516MPLc.290A>G (p.Asp97Gly)
c.269A>G (p.Asp90Gly)
n.290A>G
c.461A>G (p.Asp154Gly)
 gnomAD v4
1g.43338619A>TCA339973518MPLc.290A>T (p.Asp97Val)
c.269A>T (p.Asp90Val)
n.290A>T
c.461A>T (p.Asp154Val)
1g.43338620C>ACA339973520MPLc.291C>A (p.Asp97Glu)
c.270C>A (p.Asp90Glu)
n.291C>A
c.462C>A (p.Asp154Glu)
 dbSNP
1g.43338620C>GCA339973521MPLc.291C>G (p.Asp97Glu)
c.270C>G (p.Asp90Glu)
n.291C>G
c.462C>G (p.Asp154Glu)
1g.43338620C>TCA417417403MPLc.291C>T (p.Asp97=)
c.270C>T (p.Asp90=)
n.291C>T
c.462C>T (p.Asp154=)
1g.43338621C>ACA339973524MPLc.292C>A (p.Gln98Lys)
c.271C>A (p.Gln91Lys)
n.292C>A
c.463C>A (p.Gln155Lys)
1g.43338621C=CA1165576073MPLc.292C= (p.Gln98=)
c.271C= (p.Gln91=)
n.292C=
c.463C= (p.Gln155=)
1g.43338621C>GCA806630MPLc.292C>G (p.Gln98Glu)
c.271C>G (p.Gln91Glu)
n.292C>G
c.463C>G (p.Gln155Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.43338621C>TCA339973526MPLc.292C>T (p.Gln98Ter)
c.271C>T (p.Gln91Ter)
n.292C>T
c.463C>T (p.Gln155Ter)
 ClinVar dbSNP
1g.43338622A>CCA339973529MPLc.293A>C (p.Gln98Pro)
c.272A>C (p.Gln91Pro)
n.293A>C
c.464A>C (p.Gln155Pro)
1g.43338622A>GCA339973530MPLc.293A>G (p.Gln98Arg)
c.272A>G (p.Gln91Arg)
n.293A>G
c.464A>G (p.Gln155Arg)
1g.43338622A>TCA339973532MPLc.293A>T (p.Gln98Leu)
c.272A>T (p.Gln91Leu)
n.293A>T
c.464A>T (p.Gln155Leu)
1g.43338623G>ACA21607259MPLc.294G>A (p.Gln98=)
c.273G>A (p.Gln91=)
n.294G>A
c.465G>A (p.Gln155=)
 dbSNP
1g.43338623G>CCA339973535MPLc.294G>C (p.Gln98His)
c.273G>C (p.Gln91His)
n.294G>C
c.465G>C (p.Gln155His)
1g.43338623G=CA1165576074MPLc.294G= (p.Gln98=)
c.273G= (p.Gln91=)
n.294G=
c.465G= (p.Gln155=)
1g.43338623G>TCA339973536MPLc.294G>T (p.Gln98His)
c.273G>T (p.Gln91His)
n.294G>T
c.465G>T (p.Gln155His)
1g.43338624G>ACA21607262MPLc.295G>A (p.Glu99Lys)
c.274G>A (p.Glu92Lys)
n.295G>A
c.466G>A (p.Glu156Lys)
 dbSNP
1g.43338624G>CCA339973542MPLc.295G>C (p.Glu99Gln)
c.274G>C (p.Glu92Gln)
n.295G>C
c.466G>C (p.Glu156Gln)
1g.43338624G=CA1143537895MPLc.295G= (p.Glu99=)
c.274G= (p.Glu92=)
n.295G=
c.466G= (p.Glu156=)
1g.43338624G>TCA339973540MPLc.295G>T (p.Glu99Ter)
c.274G>T (p.Glu92Ter)
n.295G>T
c.466G>T (p.Glu156Ter)
1g.43338625A>CCA339973544MPLc.296A>C (p.Glu99Ala)
c.275A>C (p.Glu92Ala)
n.296A>C
c.467A>C (p.Glu156Ala)
1g.43338625A>GCA339973546MPLc.296A>G (p.Glu99Gly)
c.275A>G (p.Glu92Gly)
n.296A>G
c.467A>G (p.Glu156Gly)
1g.43338625A>TCA339973548MPLc.296A>T (p.Glu99Val)
c.275A>T (p.Glu92Val)
n.296A>T
c.467A>T (p.Glu156Val)
1g.43338625_43338626delinsAGCA1165576075MPLc.296_297delinsAG (p.Glu99=)
c.275_276delinsAG (p.Glu92=)
n.296_297delinsAG
c.467_468delinsAG (p.Glu156=)
1g.43338626G>ACA417417413MPLc.297G>A (p.Glu99=)
c.276G>A (p.Glu92=)
n.297G>A
c.468G>A (p.Glu156=)
 gnomAD v4 COSMIC COSMIC
1g.43338626G>CCA339973550MPLc.297G>C (p.Glu99Asp)
c.276G>C (p.Glu92Asp)
n.297G>C
c.468G>C (p.Glu156Asp)
1g.43338626G>TCA339973552MPLc.297G>T (p.Glu99Asp)
c.276G>T (p.Glu92Asp)
n.297G>T
c.468G>T (p.Glu156Asp)
1g.43338627delCA522806113MPLc.298del (p.Glu100LysfsTer12)
c.277del (p.Glu93LysfsTer12)
n.298del
c.469del (p.Glu157LysfsTer12)
 dbSNP gnomAD v2 gnomAD v4
1g.43338627G>ACA806631MPLc.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
1g.43338627G>CCA339973555MPLc.298G>C (p.Glu100Gln)
c.277G>C (p.Glu93Gln)
n.298G>C
c.469G>C (p.Glu157Gln)
1g.43338627G=CA1165576076MPLc.298G= (p.Glu100=)
c.277G= (p.Glu93=)
n.298G=
c.469G= (p.Glu157=)
1g.43338627G>TCA339973556MPLc.298G>T (p.Glu100Ter)
c.277G>T (p.Glu93Ter)
n.298G>T
c.469G>T (p.Glu157Ter)
1g.43338628A=CA1165576077MPLc.299A= (p.Glu100=)
c.278A= (p.Glu93=)
n.299A=
c.470A= (p.Glu157=)
1g.43338628A>CCA339973559MPLc.299A>C (p.Glu100Ala)
c.278A>C (p.Glu93Ala)
n.299A>C
c.470A>C (p.Glu157Ala)
1g.43338628A>GCA339973560MPLc.299A>G (p.Glu100Gly)
c.278A>G (p.Glu93Gly)
n.299A>G
c.470A>G (p.Glu157Gly)
1g.43338628A>TCA339973562MPLc.299A>T (p.Glu100Val)
c.278A>T (p.Glu93Val)
n.299A>T
c.470A>T (p.Glu157Val)
 dbSNP gnomAD v2 gnomAD v4
1g.43338629A>CCA339973564MPLc.300A>C (p.Glu100Asp)
c.279A>C (p.Glu93Asp)
n.300A>C
c.471A>C (p.Glu157Asp)
1g.43338629A>GCA417417419MPLc.300A>G (p.Glu100=)
c.279A>G (p.Glu93=)
n.300A>G
c.471A>G (p.Glu157=)
1g.43338629A>TCA339973566MPLc.300A>T (p.Glu100Asp)
c.279A>T (p.Glu93Asp)
n.300A>T
c.471A>T (p.Glu157Asp)
1g.43338630G>ACA339973567MPLc.301G>A (p.Val101Met)
c.280G>A (p.Val94Met)
n.301G>A
c.472G>A (p.Val158Met)
 dbSNP gnomAD v3 gnomAD v4
1g.43338630G>CCA339973569MPLc.301G>C (p.Val101Leu)
c.280G>C (p.Val94Leu)
n.301G>C
c.472G>C (p.Val158Leu)
1g.43338630G=CA1165576078MPLc.301G= (p.Val101=)
c.280G= (p.Val94=)
n.301G=
c.472G= (p.Val158=)
1g.43338630G>TCA339973571MPLc.301G>T (p.Val101Leu)
c.280G>T (p.Val94Leu)
n.301G>T
c.472G>T (p.Val158Leu)
1g.43338631T>ACA339973574MPLc.302T>A (p.Val101Glu)
c.281T>A (p.Val94Glu)
n.302T>A
c.473T>A (p.Val158Glu)
1g.43338631T>CCA339973575MPLc.302T>C (p.Val101Ala)
c.281T>C (p.Val94Ala)
n.302T>C
c.473T>C (p.Val158Ala)
1g.43338631T>GCA339973576MPLc.302T>G (p.Val101Gly)
c.281T>G (p.Val94Gly)
n.302T>G
c.473T>G (p.Val158Gly)
1g.43338632G>ACA417417422MPLc.303G>A (p.Val101=)
c.282G>A (p.Val94=)
n.303G>A
c.474G>A (p.Val158=)
 gnomAD v4
1g.43338632G>CCA417417423MPLc.303G>C (p.Val101=)
c.282G>C (p.Val94=)
n.303G>C
c.474G>C (p.Val158=)
1g.43338632G>TCA417417424MPLc.303G>T (p.Val101=)
c.282G>T (p.Val94=)
n.303G>T
c.474G>T (p.Val158=)
1g.43338633C>ACA339973579MPLc.304C>A (p.Arg102Ser)
c.283C>A (p.Arg95Ser)
n.304C>A
c.475C>A (p.Arg159Ser)
 dbSNP
1g.43338633C=CA1165576079MPLc.304C= (p.Arg102=)
c.283C= (p.Arg95=)
n.304C=
c.475C= (p.Arg159=)
1g.43338633C>GCA339973581MPLc.304C>G (p.Arg102Gly)
c.283C>G (p.Arg95Gly)
n.304C>G
c.475C>G (p.Arg159Gly)
1g.43338633C>TCA806632MPLc.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
1g.43338634G>ACA339973584MPLc.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
1g.43338634G>CCA123780MPLc.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
1g.43338634G=CA1140495612MPLc.305G= (p.Arg102=)
c.284G= (p.Arg95=)
n.305G=
c.476G= (p.Arg159=)
1g.43338634G>TCA339973585MPLc.305G>T (p.Arg102Leu)
c.284G>T (p.Arg95Leu)
n.305G>T
c.476G>T (p.Arg159Leu)
1g.43338635T>ACA417417429MPLc.306T>A (p.Arg102=)
c.285T>A (p.Arg95=)
n.306T>A
c.477T>A (p.Arg159=)
 ClinVar dbSNP
1g.43338635T>CCA806633MPLc.306T>C (p.Arg102=)
c.285T>C (p.Arg95=)
n.306T>C
c.477T>C (p.Arg159=)
 ClinVar dbSNP ExAC gnomAD v4
1g.43338635T>GCA417417431MPLc.306T>G (p.Arg102=)
c.285T>G (p.Arg95=)
n.306T>G
c.477T>G (p.Arg159=)
1g.43338635T=CA1141737540MPLc.306T= (p.Arg102=)
c.285T= (p.Arg95=)
n.306T=
c.477T= (p.Arg159=)
1g.43338636C>ACA339973593MPLc.307C>A (p.Leu103Ile)
c.286C>A (p.Leu96Ile)
n.307C>A
c.478C>A (p.Leu160Ile)
 dbSNP
1g.43338636C>GCA339973589MPLc.307C>G (p.Leu103Val)
c.286C>G (p.Leu96Val)
n.307C>G
c.478C>G (p.Leu160Val)
1g.43338636C>TCA339973591MPLc.307C>T (p.Leu103Phe)
c.286C>T (p.Leu96Phe)
n.307C>T
c.478C>T (p.Leu160Phe)
 gnomAD v4
1g.43338636_43338637delinsCTCA1165576080MPLc.307_308delinsCT (p.Leu103=)
c.286_287delinsCT (p.Leu96=)
n.307_308delinsCT
c.478_479delinsCT (p.Leu160=)
1g.43338637delCA522806114MPLc.308del (p.Leu103ProfsTer9)
c.287del (p.Leu96ProfsTer9)
n.308del
c.479del (p.Leu160ProfsTer9)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.43338637T>ACA339973595MPLc.308T>A (p.Leu103His)
c.287T>A (p.Leu96His)
n.308T>A
c.479T>A (p.Leu160His)
1g.43338637T>CCA339973597MPLc.308T>C (p.Leu103Pro)
c.287T>C (p.Leu96Pro)
n.308T>C
c.479T>C (p.Leu160Pro)
 gnomAD v4
1g.43338637T>GCA339973599MPLc.308T>G (p.Leu103Arg)
c.287T>G (p.Leu96Arg)
n.308T>G
c.479T>G (p.Leu160Arg)
1g.43338638C>ACA417417438MPLc.309C>A (p.Leu103=)
c.288C>A (p.Leu96=)
n.309C>A
c.480C>A (p.Leu160=)
 ClinVar
1g.43338638C>GCA417417440MPLc.309C>G (p.Leu103=)
c.288C>G (p.Leu96=)
n.309C>G
c.480C>G (p.Leu160=)
1g.43338638C>TCA417417443MPLc.309C>T (p.Leu103=)
c.288C>T (p.Leu96=)
n.309C>T
c.480C>T (p.Leu160=)
1g.43338638_43338640delinsCTTCA1165576081MPLc.309_311delinsCTT (p.Leu103=)
c.288_290delinsCTT (p.Leu96=)
n.309_311delinsCTT
c.480_482delinsCTT (p.Leu160=)
1g.43338639T>ACA339973600MPLc.310T>A (p.Phe104Ile)
c.289T>A (p.Phe97Ile)
n.310T>A
c.481T>A (p.Phe161Ile)
1g.43338639T>CCA339973602MPLc.310T>C (p.Phe104Leu)
c.289T>C (p.Phe97Leu)
n.310T>C
c.481T>C (p.Phe161Leu)
1g.43338639T>GCA339973604MPLc.310T>G (p.Phe104Val)
c.289T>G (p.Phe97Val)
n.310T>G
c.481T>G (p.Phe161Val)
1g.43338639_43338640delCA522806115MPLc.310_311del (p.Phe104LeufsTer?)
c.289_290del (p.Phe97LeufsTer?)
n.310_311del
c.481_482del (p.Phe161LeufsTer?)
 dbSNP gnomAD v2 gnomAD v4
1g.43338640delCA2573132307MPLc.311del (p.Phe104SerfsTer8)
c.290del (p.Phe97SerfsTer8)
n.311del
c.482del (p.Phe161SerfsTer8)
 ClinVar dbSNP gnomAD v4
1g.43338642_43338645delCA2573051579MPLc.313_316del (p.Phe105ArgfsTer6)
c.292_295del (p.Phe98ArgfsTer6)
n.313_316del
c.484_487del (p.Phe162ArgfsTer6)
 ClinVar dbSNP
1g.43338640T>ACA339973606MPLc.311T>A (p.Phe104Tyr)
c.290T>A (p.Phe97Tyr)
n.311T>A
c.482T>A (p.Phe161Tyr)
1g.43338640T>CCA339973608MPLc.311T>C (p.Phe104Ser)
c.290T>C (p.Phe97Ser)
n.311T>C
c.482T>C (p.Phe161Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.43338640T>GCA339973610MPLc.311T>G (p.Phe104Cys)
c.290T>G (p.Phe97Cys)
n.311T>G
c.482T>G (p.Phe161Cys)
1g.43338640T=CA1165576082MPLc.311T= (p.Phe104=)
c.290T= (p.Phe97=)
n.311T=
c.482T= (p.Phe161=)
1g.43338641C>ACA339973612MPLc.312C>A (p.Phe104Leu)
c.291C>A (p.Phe97Leu)
n.312C>A
c.483C>A (p.Phe161Leu)
 gnomAD v4
1g.43338641C>GCA339973614MPLc.312C>G (p.Phe104Leu)
c.291C>G (p.Phe97Leu)
n.312C>G
c.483C>G (p.Phe161Leu)
1g.43338641C>TCA417417461MPLc.312C>T (p.Phe104=)
c.291C>T (p.Phe97=)
n.312C>T
c.483C>T (p.Phe161=)
 dbSNP COSMIC COSMIC
1g.43338642T>ACA339973616MPLc.313T>A (p.Phe105Ile)
c.292T>A (p.Phe98Ile)
n.313T>A
c.484T>A (p.Phe162Ile)
1g.43338642T>CCA806634MPLc.313T>C (p.Phe105Leu)
c.292T>C (p.Phe98Leu)
n.313T>C
c.484T>C (p.Phe162Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43338642T>GCA339973618MPLc.313T>G (p.Phe105Val)
c.292T>G (p.Phe98Val)
n.313T>G
c.484T>G (p.Phe162Val)
1g.43338642T=CA1142046225MPLc.313T= (p.Phe105=)
c.292T= (p.Phe98=)
n.313T=
c.484T= (p.Phe162=)
1g.43338643T>ACA339973620MPLc.314T>A (p.Phe105Tyr)
c.293T>A (p.Phe98Tyr)
n.314T>A
c.485T>A (p.Phe162Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.43338643T>CCA339973622MPLc.314T>C (p.Phe105Ser)
c.293T>C (p.Phe98Ser)
n.314T>C
c.485T>C (p.Phe162Ser)
1g.43338643T>GCA339973624MPLc.314T>G (p.Phe105Cys)
c.293T>G (p.Phe98Cys)
n.314T>G
c.485T>G (p.Phe162Cys)
1g.43338643T=CA1165576083MPLc.314T= (p.Phe105=)
c.293T= (p.Phe98=)
n.314T=
c.485T= (p.Phe162=)
1g.43338644T>ACA339973626MPLc.315T>A (p.Phe105Leu)
c.294T>A (p.Phe98Leu)
n.315T>A
c.486T>A (p.Phe162Leu)
1g.43338644T>CCA417417483MPLc.315T>C (p.Phe105=)
c.294T>C (p.Phe98=)
n.315T>C
c.486T>C (p.Phe162=)
 ClinVar dbSNP
1g.43338644T>GCA339973628MPLc.315T>G (p.Phe105Leu)
c.294T>G (p.Phe98Leu)
n.315T>G
c.486T>G (p.Phe162Leu)
1g.43338645C>ACA339973630MPLc.316C>A (p.Pro106Thr)
c.295C>A (p.Pro99Thr)
n.316C>A
c.487C>A (p.Pro163Thr)
1g.43338645C>GCA339973632MPLc.316C>G (p.Pro106Ala)
c.295C>G (p.Pro99Ala)
n.316C>G
c.487C>G (p.Pro163Ala)
 gnomAD v4
1g.43338645C>TCA339973634MPLc.316C>T (p.Pro106Ser)
c.295C>T (p.Pro99Ser)
n.316C>T
c.487C>T (p.Pro163Ser)
1g.43338646C>ACA339973636MPLc.317C>A (p.Pro106Gln)
c.296C>A (p.Pro99Gln)
n.317C>A
c.488C>A (p.Pro163Gln)
1g.43338646C=CA1165576084MPLc.317C= (p.Pro106=)
c.296C= (p.Pro99=)
n.317C=
c.488C= (p.Pro163=)
1g.43338646C>GCA806635MPLc.317C>G (p.Pro106Arg)
c.296C>G (p.Pro99Arg)
n.317C>G
c.488C>G (p.Pro163Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.43338646C>TCA806636MPLc.317C>T (p.Pro106Leu)
c.296C>T (p.Pro99Leu)
n.317C>T
c.488C>T (p.Pro163Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC

Number of alleles fetched