Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.43338514_43338515dupCA806611MPLc.213-28_213-27dup (n.213-28_213-27dup)
c.192-28_192-27dup (n.192-28_192-27dup)
n.213-28_213-27dup
c.384-28_384-27dup (n.384-28_384-27dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.43338515T>CCA806613MPLc.213-27T>C (n.213-27T>C)
c.192-27T>C (n.192-27T>C)
n.213-27T>C
c.384-27T>C (n.384-27T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43338515T=CA1143665313MPLc.213-27T= (n.213-27T=)
c.192-27T= (n.192-27T=)
n.213-27T=
c.384-27T= (n.384-27T=)
1g.43338516A=CA1165576037MPLc.213-26A= (n.213-26A=)
c.192-26A= (n.192-26A=)
n.213-26A=
c.384-26A= (n.384-26A=)
1g.43338516A>GCA735990197MPLc.213-26A>G (n.213-26A>G)
c.192-26A>G (n.192-26A>G)
n.213-26A>G
c.384-26A>G (n.384-26A>G)
 dbSNP gnomAD v3 gnomAD v4
1g.43338517G>ACA2645222157MPLc.213-25G>A (n.213-25G>A)
c.192-25G>A (n.192-25G>A)
n.213-25G>A
c.384-25G>A (n.384-25G>A)
 gnomAD v4
1g.43338519A>TCA2695805383MPLc.213-23A>T (n.213-23A>T)
c.192-23A>T (n.192-23A>T)
n.213-23A>T
c.384-23A>T (n.384-23A>T)
 dbSNP
1g.43338520G>ACA2645222159MPLc.213-22G>A (n.213-22G>A)
c.192-22G>A (n.192-22G>A)
n.213-22G>A
c.384-22G>A (n.384-22G>A)
 gnomAD v4
1g.43338520G>CCA735990198MPLc.213-22G>C (n.213-22G>C)
c.192-22G>C (n.192-22G>C)
n.213-22G>C
c.384-22G>C (n.384-22G>C)
 dbSNP gnomAD v3 gnomAD v4
1g.43338520G=CA1165576038MPLc.213-22G= (n.213-22G=)
c.192-22G= (n.192-22G=)
n.213-22G=
c.384-22G= (n.384-22G=)
1g.43338521G>ACA2645222162MPLc.213-21G>A (n.213-21G>A)
c.192-21G>A (n.192-21G>A)
n.213-21G>A
c.384-21G>A (n.384-21G>A)
 gnomAD v4
1g.43338522G>ACA1165576039MPLc.213-20G>A (n.213-20G>A)
c.192-20G>A (n.192-20G>A)
n.213-20G>A
c.384-20G>A (n.384-20G>A)
 dbSNP
1g.43338522G>CCA806614MPLc.213-20G>C (n.213-20G>C)
c.192-20G>C (n.192-20G>C)
n.213-20G>C
c.384-20G>C (n.384-20G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43338522G=CA1143837253MPLc.213-20G= (n.213-20G=)
c.192-20G= (n.192-20G=)
n.213-20G=
c.384-20G= (n.384-20G=)
1g.43338523A>TCA2695805401MPLc.213-19A>T (n.213-19A>T)
c.192-19A>T (n.192-19A>T)
n.213-19A>T
c.384-19A>T (n.384-19A>T)
 dbSNP
1g.43338524C>ACA2645222163MPLc.213-18C>A (n.213-18C>A)
c.192-18C>A (n.192-18C>A)
n.213-18C>A
c.384-18C>A (n.384-18C>A)
 gnomAD v4
1g.43338524C>GCA2695805454MPLc.213-18C>G (n.213-18C>G)
c.192-18C>G (n.192-18C>G)
n.213-18C>G
c.384-18C>G (n.384-18C>G)
 dbSNP
1g.43338524C>TCA2695805456MPLc.213-18C>T (n.213-18C>T)
c.192-18C>T (n.192-18C>T)
n.213-18C>T
c.384-18C>T (n.384-18C>T)
 dbSNP
1g.43338525C>TCA2645222164MPLc.213-17C>T (n.213-17C>T)
c.192-17C>T (n.192-17C>T)
n.213-17C>T
c.384-17C>T (n.384-17C>T)
 gnomAD v4
1g.43338526T>ACA735990201MPLc.213-16T>A (n.213-16T>A)
c.192-16T>A (n.192-16T>A)
n.213-16T>A
c.384-16T>A (n.384-16T>A)
 dbSNP gnomAD v3 gnomAD v4
1g.43338526T=CA1165576040MPLc.213-16T= (n.213-16T=)
c.192-16T= (n.192-16T=)
n.213-16T=
c.384-16T= (n.384-16T=)
1g.43338528T>CCA646326485MPLc.213-14T>C (n.213-14T>C)
c.192-14T>C (n.192-14T>C)
n.213-14T>C
c.384-14T>C (n.384-14T>C)
 COSMIC
1g.43338530C=CA1165576041MPLc.213-12C= (n.213-12C=)
c.192-12C= (n.192-12C=)
n.213-12C=
c.384-12C= (n.384-12C=)
1g.43338530C>TCA806615MPLc.213-12C>T (n.213-12C>T)
c.192-12C>T (n.192-12C>T)
n.213-12C>T
c.384-12C>T (n.384-12C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.43338534G>ACA2695805491MPLc.213-8G>A (n.213-8G>A)
c.192-8G>A (n.192-8G>A)
n.213-8G>A
c.384-8G>A (n.384-8G>A)
 dbSNP
1g.43338535C>ACA2645222171MPLc.213-7C>A (n.213-7C>A)
c.192-7C>A (n.192-7C>A)
n.213-7C>A
c.384-7C>A (n.384-7C>A)
 dbSNP gnomAD v4
1g.43338535C>TCA2573132306MPLc.213-7C>T (n.213-7C>T)
c.192-7C>T (n.192-7C>T)
n.213-7C>T
c.384-7C>T (n.384-7C>T)
 ClinVar dbSNP
1g.43338536C=CA1165576042MPLc.213-6C= (n.213-6C=)
c.192-6C= (n.192-6C=)
n.213-6C=
c.384-6C= (n.384-6C=)
1g.43338536C>TCA1165576043MPLc.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
1g.43338539C>ACA735990209MPLc.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
1g.43338539C=CA1165576044MPLc.213-3C= (n.213-3C=)
c.192-3C= (n.192-3C=)
n.213-3C=
c.384-3C= (n.384-3C=)
1g.43338539C>TCA2645222178MPLc.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
1g.43338540A>CCA339973213MPLc.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)
1g.43338540A>GCA339973215MPLc.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
1g.43338540A>TCA339973218MPLc.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)
1g.43338541G>ACA21607175MPLc.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
1g.43338541G>CCA339973220MPLc.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)
1g.43338541G=CA1165576045MPLc.213-1G= (n.213-1G=)
c.192-1G= (n.192-1G=)
n.213-1G=
c.384-1G= (n.384-1G=)
1g.43338541G>TCA339973222MPLc.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)
1g.43338542G>ACA417417241MPLc.213G>A (p.Arg71=)
c.192G>A (p.Arg64=)
n.213G>A
c.384G>A (p.Arg128=)
 gnomAD v4
1g.43338542G>CCA417417242MPLc.213G>C (p.Arg71=)
c.192G>C (p.Arg64=)
n.213G>C
c.384G>C (p.Arg128=)
1g.43338542G>TCA417417243MPLc.213G>T (p.Arg71=)
c.192G>T (p.Arg64=)
n.213G>T
c.384G>T (p.Arg128=)
 gnomAD v4
1g.43338543G>ACA339973230MPLc.214G>A (p.Glu72Lys)
c.193G>A (p.Glu65Lys)
n.214G>A
c.385G>A (p.Glu129Lys)
 COSMIC COSMIC
1g.43338543G>CCA339973228MPLc.214G>C (p.Glu72Gln)
c.193G>C (p.Glu65Gln)
n.214G>C
c.385G>C (p.Glu129Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.43338543G=CA1165576046MPLc.214G= (p.Glu72=)
c.193G= (p.Glu65=)
n.214G=
c.385G= (p.Glu129=)
1g.43338543G>TCA339973225MPLc.214G>T (p.Glu72Ter)
c.193G>T (p.Glu65Ter)
n.214G>T
c.385G>T (p.Glu129Ter)
 ClinVar dbSNP
1g.43338544A>CCA339973233MPLc.215A>C (p.Glu72Ala)
c.194A>C (p.Glu65Ala)
n.215A>C
c.386A>C (p.Glu129Ala)
1g.43338544A>GCA339973236MPLc.215A>G (p.Glu72Gly)
c.194A>G (p.Glu65Gly)
n.215A>G
c.386A>G (p.Glu129Gly)
1g.43338544A>TCA339973238MPLc.215A>T (p.Glu72Val)
c.194A>T (p.Glu65Val)
n.215A>T
c.386A>T (p.Glu129Val)
1g.43338545G>ACA417417245MPLc.216G>A (p.Glu72=)
c.195G>A (p.Glu65=)
n.216G>A
c.387G>A (p.Glu129=)
 dbSNP
1g.43338545G>CCA339973239MPLc.216G>C (p.Glu72Asp)
c.195G>C (p.Glu65Asp)
n.216G>C
c.387G>C (p.Glu129Asp)
 dbSNP
1g.43338545G>TCA339973241MPLc.216G>T (p.Glu72Asp)
c.195G>T (p.Glu65Asp)
n.216G>T
c.387G>T (p.Glu129Asp)
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

Number of alleles fetched