Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched