Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
1g.43338647G>ACA806637MPLc.318G>A (p.Pro106=)
c.297G>A (p.Pro99=)
n.318G>A
c.489G>A (p.Pro163=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43338647G>CCA417417507MPLc.318G>C (p.Pro106=)
c.297G>C (p.Pro99=)
n.318G>C
c.489G>C (p.Pro163=)
1g.43338647G=CA1143700880MPLc.318G= (p.Pro106=)
c.297G= (p.Pro99=)
n.318G=
c.489G= (p.Pro163=)
1g.43338647G>TCA417417510MPLc.318G>T (p.Pro106=)
c.297G>T (p.Pro99=)
n.318G>T
c.489G>T (p.Pro163=)
1g.43338648C>ACA339973641MPLc.319C>A (p.Leu107Met)
c.298C>A (p.Leu100Met)
n.319C>A
c.490C>A (p.Leu164Met)
 dbSNP
1g.43338648C>GCA339973643MPLc.319C>G (p.Leu107Val)
c.298C>G (p.Leu100Val)
n.319C>G
c.490C>G (p.Leu164Val)
1g.43338648C>TCA417417518MPLc.319C>T (p.Leu107=)
c.298C>T (p.Leu100=)
n.319C>T
c.490C>T (p.Leu164=)
 dbSNP
1g.43338649T>ACA339973651MPLc.320T>A (p.Leu107Gln)
c.299T>A (p.Leu100Gln)
n.320T>A
c.491T>A (p.Leu164Gln)
1g.43338649T>CCA339973648MPLc.320T>C (p.Leu107Pro)
c.299T>C (p.Leu100Pro)
n.320T>C
c.491T>C (p.Leu164Pro)
1g.43338649T>GCA339973646MPLc.320T>G (p.Leu107Arg)
c.299T>G (p.Leu100Arg)
n.320T>G
c.491T>G (p.Leu164Arg)
1g.43338650G>ACA417417534MPLc.321G>A (p.Leu107=)
c.300G>A (p.Leu100=)
n.321G>A
c.492G>A (p.Leu164=)
 dbSNP
1g.43338650G>CCA417417537MPLc.321G>C (p.Leu107=)
c.300G>C (p.Leu100=)
n.321G>C
c.492G>C (p.Leu164=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.43338650G=CA1165576085MPLc.321G= (p.Leu107=)
c.300G= (p.Leu100=)
n.321G=
c.492G= (p.Leu164=)
1g.43338650G>TCA417417540MPLc.321G>T (p.Leu107=)
c.300G>T (p.Leu100=)
n.321G>T
c.492G>T (p.Leu164=)
 gnomAD v4
1g.43338651C>ACA339973656MPLc.322C>A (p.His108Asn)
c.301C>A (p.His101Asn)
n.322C>A
c.493C>A (p.His165Asn)
1g.43338651C=CA1165576086MPLc.322C= (p.His108=)
c.301C= (p.His101=)
n.322C=
c.493C= (p.His165=)
1g.43338651C>GCA339973660MPLc.322C>G (p.His108Asp)
c.301C>G (p.His101Asp)
n.322C>G
c.493C>G (p.His165Asp)
1g.43338651C>TCA339973663MPLc.322C>T (p.His108Tyr)
c.301C>T (p.His101Tyr)
n.322C>T
c.493C>T (p.His165Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.43338652A>CCA339973667MPLc.323A>C (p.His108Pro)
c.302A>C (p.His101Pro)
n.323A>C
c.494A>C (p.His165Pro)
1g.43338652A>GCA339973669MPLc.323A>G (p.His108Arg)
c.302A>G (p.His101Arg)
n.323A>G
c.494A>G (p.His165Arg)
1g.43338652A>TCA339973672MPLc.323A>T (p.His108Leu)
c.302A>T (p.His101Leu)
n.323A>T
c.494A>T (p.His165Leu)
1g.43338653C>ACA339973675MPLc.324C>A (p.His108Gln)
c.303C>A (p.His101Gln)
n.324C>A
c.495C>A (p.His165Gln)
1g.43338653C=CA1165576087MPLc.324C= (p.His108=)
c.303C= (p.His101=)
n.324C=
c.495C= (p.His165=)
1g.43338653C>GCA339973678MPLc.324C>G (p.His108Gln)
c.303C>G (p.His101Gln)
n.324C>G
c.495C>G (p.His165Gln)
1g.43338653C>TCA21607279MPLc.324C>T (p.His108=)
c.303C>T (p.His101=)
n.324C>T
c.495C>T (p.His165=)
 dbSNP
1g.43338654C>ACA339973680MPLc.325C>A (p.Leu109Ile)
c.304C>A (p.Leu102Ile)
n.325C>A
c.496C>A (p.Leu166Ile)
1g.43338654C=CA1143533040MPLc.325C= (p.Leu109=)
c.304C= (p.Leu102=)
n.325C=
c.496C= (p.Leu166=)
1g.43338654C>GCA339973682MPLc.325C>G (p.Leu109Val)
c.304C>G (p.Leu102Val)
n.325C>G
c.496C>G (p.Leu166Val)
1g.43338654C>TCA806638MPLc.325C>T (p.Leu109Phe)
c.304C>T (p.Leu102Phe)
n.325C>T
c.496C>T (p.Leu166Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43338655T>ACA339973689MPLc.326T>A (p.Leu109His)
c.305T>A (p.Leu102His)
n.326T>A
c.497T>A (p.Leu166His)
 COSMIC COSMIC
1g.43338655T>CCA339973691MPLc.326T>C (p.Leu109Pro)
c.305T>C (p.Leu102Pro)
n.326T>C
c.497T>C (p.Leu166Pro)
1g.43338655T>GCA339973693MPLc.326T>G (p.Leu109Arg)
c.305T>G (p.Leu102Arg)
n.326T>G
c.497T>G (p.Leu166Arg)
1g.43338656C>ACA417417574MPLc.327C>A (p.Leu109=)
c.306C>A (p.Leu102=)
n.327C>A
c.498C>A (p.Leu166=)
1g.43338656C=CA1165576088MPLc.327C= (p.Leu109=)
c.306C= (p.Leu102=)
n.327C=
c.498C= (p.Leu166=)
1g.43338656C>GCA21607284MPLc.327C>G (p.Leu109=)
c.306C>G (p.Leu102=)
n.327C>G
c.498C>G (p.Leu166=)
 dbSNP gnomAD v4
1g.43338656C>TCA417417577MPLc.327C>T (p.Leu109=)
c.306C>T (p.Leu102=)
n.327C>T
c.498C>T (p.Leu166=)
1g.43338657T>ACA339973705MPLc.328T>A (p.Trp110Arg)
c.307T>A (p.Trp103Arg)
n.328T>A
c.499T>A (p.Trp167Arg)
1g.43338657T>CCA339973702MPLc.328T>C (p.Trp110Arg)
c.307T>C (p.Trp103Arg)
n.328T>C
c.499T>C (p.Trp167Arg)
 dbSNP gnomAD v4
1g.43338657T>GCA339973699MPLc.328T>G (p.Trp110Gly)
c.307T>G (p.Trp103Gly)
n.328T>G
c.499T>G (p.Trp167Gly)
1g.43338657T=CA1165576089MPLc.328T= (p.Trp110=)
c.307T= (p.Trp103=)
n.328T=
c.499T= (p.Trp167=)
1g.43338658G>ACA339973709MPLc.329G>A (p.Trp110Ter)
c.308G>A (p.Trp103Ter)
n.329G>A
c.500G>A (p.Trp167Ter)
 dbSNP gnomAD v4
1g.43338658G>CCA339973713MPLc.329G>C (p.Trp110Ser)
c.308G>C (p.Trp103Ser)
n.329G>C
c.500G>C (p.Trp167Ser)
1g.43338658G=CA1165576090MPLc.329G= (p.Trp110=)
c.308G= (p.Trp103=)
n.329G=
c.500G= (p.Trp167=)
1g.43338658G>TCA339973716MPLc.329G>T (p.Trp110Leu)
c.308G>T (p.Trp103Leu)
n.329G>T
c.500G>T (p.Trp167Leu)
 dbSNP
1g.43338659G>ACA339973720MPLc.330G>A (p.Trp110Ter)
c.309G>A (p.Trp103Ter)
n.330G>A
c.501G>A (p.Trp167Ter)
1g.43338659G>CCA339973723MPLc.330G>C (p.Trp110Cys)
c.309G>C (p.Trp103Cys)
n.330G>C
c.501G>C (p.Trp167Cys)
1g.43338659G>TCA339973726MPLc.330G>T (p.Trp110Cys)
c.309G>T (p.Trp103Cys)
n.330G>T
c.501G>T (p.Trp167Cys)
1g.43338660G>ACA339973736MPLc.331G>A (p.Val111Met)
c.310G>A (p.Val104Met)
n.331G>A
c.502G>A (p.Val168Met)
1g.43338660G>CCA339973733MPLc.331G>C (p.Val111Leu)
c.310G>C (p.Val104Leu)
n.331G>C
c.502G>C (p.Val168Leu)
 gnomAD v4
1g.43338660G>TCA339973730MPLc.331G>T (p.Val111Leu)
c.310G>T (p.Val104Leu)
n.331G>T
c.502G>T (p.Val168Leu)
1g.43338661T>ACA339973738MPLc.332T>A (p.Val111Glu)
c.311T>A (p.Val104Glu)
n.332T>A
c.503T>A (p.Val168Glu)
1g.43338661T>CCA339973740MPLc.332T>C (p.Val111Ala)
c.311T>C (p.Val104Ala)
n.332T>C
c.503T>C (p.Val168Ala)
1g.43338661T>GCA339973744MPLc.332T>G (p.Val111Gly)
c.311T>G (p.Val104Gly)
n.332T>G
c.503T>G (p.Val168Gly)
1g.43338662G>ACA417417612MPLc.333G>A (p.Val111=)
c.312G>A (p.Val104=)
n.333G>A
c.504G>A (p.Val168=)
 ClinVar dbSNP gnomAD v4
1g.43338662G>CCA417417613MPLc.333G>C (p.Val111=)
c.312G>C (p.Val104=)
n.333G>C
c.504G>C (p.Val168=)
1g.43338662G=CA1165576091MPLc.333G= (p.Val111=)
c.312G= (p.Val104=)
n.333G=
c.504G= (p.Val168=)
1g.43338662G>TCA417417614MPLc.333G>T (p.Val111=)
c.312G>T (p.Val104=)
n.333G>T
c.504G>T (p.Val168=)
1g.43338665_43338667delCA2522362218MPLc.336_338del (p.Lys112del)
c.315_317del (p.Lys105del)
n.336_338del
c.507_509del (p.Lys169del)
 gnomAD v4
1g.43338663A>CCA339973747MPLc.334A>C (p.Lys112Gln)
c.313A>C (p.Lys105Gln)
n.334A>C
c.505A>C (p.Lys169Gln)
1g.43338663A>GCA339973749MPLc.334A>G (p.Lys112Glu)
c.313A>G (p.Lys105Glu)
n.334A>G
c.505A>G (p.Lys169Glu)
1g.43338663A>TCA339973753MPLc.334A>T (p.Lys112Ter)
c.313A>T (p.Lys105Ter)
n.334A>T
c.505A>T (p.Lys169Ter)
1g.43338664A>CCA339973759MPLc.335A>C (p.Lys112Thr)
c.314A>C (p.Lys105Thr)
n.335A>C
c.506A>C (p.Lys169Thr)
1g.43338664A>GCA339973764MPLc.335A>G (p.Lys112Arg)
c.314A>G (p.Lys105Arg)
n.335A>G
c.506A>G (p.Lys169Arg)
1g.43338664A>TCA339973762MPLc.335A>T (p.Lys112Met)
c.314A>T (p.Lys105Met)
n.335A>T
c.506A>T (p.Lys169Met)
1g.43338665G>ACA417417630MPLc.336G>A (p.Lys112=)
c.315G>A (p.Lys105=)
n.336G>A
c.507G>A (p.Lys169=)
1g.43338665G>CCA339973769MPLc.336G>C (p.Lys112Asn)
c.315G>C (p.Lys105Asn)
n.336G>C
c.507G>C (p.Lys169Asn)
1g.43338665G>TCA339973771MPLc.336G>T (p.Lys112Asn)
c.315G>T (p.Lys105Asn)
n.336G>T
c.507G>T (p.Lys169Asn)
1g.43338666A=CA1165576092MPLc.337A= (p.Asn113=)
c.316A= (p.Asn106=)
n.337A=
c.508A= (p.Asn170=)
1g.43338666A>CCA339973775MPLc.337A>C (p.Asn113His)
c.316A>C (p.Asn106His)
n.337A>C
c.508A>C (p.Asn170His)
1g.43338666A>GCA339973778MPLc.337A>G (p.Asn113Asp)
c.316A>G (p.Asn106Asp)
n.337A>G
c.508A>G (p.Asn170Asp)
 dbSNP gnomAD v3 gnomAD v4
1g.43338666A>TCA339973781MPLc.337A>T (p.Asn113Tyr)
c.316A>T (p.Asn106Tyr)
n.337A>T
c.508A>T (p.Asn170Tyr)
1g.43338667A=CA1165576093MPLc.338A= (p.Asn113=)
c.317A= (p.Asn106=)
n.338A=
c.509A= (p.Asn170=)
1g.43338667A>CCA339973785MPLc.338A>C (p.Asn113Thr)
c.317A>C (p.Asn106Thr)
n.338A>C
c.509A>C (p.Asn170Thr)
1g.43338667A>GCA339973788MPLc.338A>G (p.Asn113Ser)
c.317A>G (p.Asn106Ser)
n.338A>G
c.509A>G (p.Asn170Ser)
 gnomAD v4
1g.43338667A>TCA339973791MPLc.338A>T (p.Asn113Ile)
c.317A>T (p.Asn106Ile)
n.338A>T
c.509A>T (p.Asn170Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.43338668T>ACA339973793MPLc.339T>A (p.Asn113Lys)
c.318T>A (p.Asn106Lys)
n.339T>A
c.510T>A (p.Asn170Lys)
1g.43338668T>CCA21607288MPLc.339T>C (p.Asn113=)
c.318T>C (p.Asn106=)
n.339T>C
c.510T>C (p.Asn170=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.43338668T>GCA339973797MPLc.339T>G (p.Asn113Lys)
c.318T>G (p.Asn106Lys)
n.339T>G
c.510T>G (p.Asn170Lys)
1g.43338668T=CA1141867571MPLc.339T= (p.Asn113=)
c.318T= (p.Asn106=)
n.339T=
c.510T= (p.Asn170=)
1g.43338669G>ACA160821MPLc.340G>A (p.Val114Met)
c.319G>A (p.Val107Met)
n.340G>A
c.511G>A (p.Val171Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43338669G>CCA339973807MPLc.340G>C (p.Val114Leu)
c.319G>C (p.Val107Leu)
n.340G>C
c.511G>C (p.Val171Leu)
 dbSNP
1g.43338669G=CA1140414686MPLc.340G= (p.Val114=)
c.319G= (p.Val107=)
n.340G=
c.511G= (p.Val171=)
1g.43338669G>TCA339973804MPLc.340G>T (p.Val114Leu)
c.319G>T (p.Val107Leu)
n.340G>T
c.511G>T (p.Val171Leu)
1g.43338670T>ACA339973811MPLc.341T>A (p.Val114Glu)
c.320T>A (p.Val107Glu)
n.341T>A
c.512T>A (p.Val171Glu)
1g.43338670T>CCA339973815MPLc.341T>C (p.Val114Ala)
c.320T>C (p.Val107Ala)
n.341T>C
c.512T>C (p.Val171Ala)
1g.43338670T>GCA339973813MPLc.341T>G (p.Val114Gly)
c.320T>G (p.Val107Gly)
n.341T>G
c.512T>G (p.Val171Gly)
1g.43338671G>ACA417417684MPLc.342G>A (p.Val114=)
c.321G>A (p.Val107=)
n.342G>A
c.513G>A (p.Val171=)
 dbSNP
1g.43338671G>CCA417417686MPLc.342G>C (p.Val114=)
c.321G>C (p.Val107=)
n.342G>C
c.513G>C (p.Val171=)
1g.43338671G>TCA417417689MPLc.342G>T (p.Val114=)
c.321G>T (p.Val107=)
n.342G>T
c.513G>T (p.Val171=)
1g.43338672T>ACA339973819MPLc.343T>A (p.Phe115Ile)
c.322T>A (p.Phe108Ile)
n.343T>A
c.514T>A (p.Phe172Ile)
1g.43338672T>CCA339973822MPLc.343T>C (p.Phe115Leu)
c.322T>C (p.Phe108Leu)
n.343T>C
c.514T>C (p.Phe172Leu)
1g.43338672T>GCA339973825MPLc.343T>G (p.Phe115Val)
c.322T>G (p.Phe108Val)
n.343T>G
c.514T>G (p.Phe172Val)
1g.43338673T>ACA339973829MPLc.344T>A (p.Phe115Tyr)
c.323T>A (p.Phe108Tyr)
n.344T>A
c.515T>A (p.Phe172Tyr)
1g.43338673T>CCA339973832MPLc.344T>C (p.Phe115Ser)
c.323T>C (p.Phe108Ser)
n.344T>C
c.515T>C (p.Phe172Ser)
1g.43338673T>GCA339973834MPLc.344T>G (p.Phe115Cys)
c.323T>G (p.Phe108Cys)
n.344T>G
c.515T>G (p.Phe172Cys)
1g.43338674C>ACA339973837MPLc.345C>A (p.Phe115Leu)
c.324C>A (p.Phe108Leu)
n.345C>A
c.516C>A (p.Phe172Leu)
1g.43338674C>GCA339973840MPLc.345C>G (p.Phe115Leu)
c.324C>G (p.Phe108Leu)
n.345C>G
c.516C>G (p.Phe172Leu)
 dbSNP
1g.43338674C>TCA417417713MPLc.345C>T (p.Phe115=)
c.324C>T (p.Phe108=)
n.345C>T
c.516C>T (p.Phe172=)
1g.43338675C>ACA339973843MPLc.346C>A (p.Leu116Ile)
c.325C>A (p.Leu109Ile)
n.346C>A
c.517C>A (p.Leu173Ile)
1g.43338675C>GCA339973846MPLc.346C>G (p.Leu116Val)
c.325C>G (p.Leu109Val)
n.346C>G
c.517C>G (p.Leu173Val)
 gnomAD v4
1g.43338675C>TCA417417719MPLc.346C>T (p.Leu116=)
c.325C>T (p.Leu109=)
n.346C>T
c.517C>T (p.Leu173=)
1g.43338676T>ACA339973850MPLc.347T>A (p.Leu116Gln)
c.326T>A (p.Leu109Gln)
n.347T>A
c.518T>A (p.Leu173Gln)
1g.43338676T>CCA339973853MPLc.347T>C (p.Leu116Pro)
c.326T>C (p.Leu109Pro)
n.347T>C
c.518T>C (p.Leu173Pro)
1g.43338676T>GCA339973856MPLc.347T>G (p.Leu116Arg)
c.326T>G (p.Leu109Arg)
n.347T>G
c.518T>G (p.Leu173Arg)
 gnomAD v4
1g.43338677A>CCA417417731MPLc.348A>C (p.Leu116=)
c.327A>C (p.Leu109=)
n.348A>C
c.519A>C (p.Leu173=)
1g.43338677A>GCA417417733MPLc.348A>G (p.Leu116=)
c.327A>G (p.Leu109=)
n.348A>G
c.519A>G (p.Leu173=)
1g.43338677A>TCA417417737MPLc.348A>T (p.Leu116=)
c.327A>T (p.Leu109=)
n.348A>T
c.519A>T (p.Leu173=)
1g.43338678A>CCA339973858MPLc.349A>C (p.Asn117His)
c.328A>C (p.Asn110His)
n.349A>C
c.520A>C (p.Asn174His)
1g.43338678A>GCA339973863MPLc.349A>G (p.Asn117Asp)
c.328A>G (p.Asn110Asp)
n.349A>G
c.520A>G (p.Asn174Asp)
1g.43338678A>TCA339973860MPLc.349A>T (p.Asn117Tyr)
c.328A>T (p.Asn110Tyr)
n.349A>T
c.520A>T (p.Asn174Tyr)
1g.43338679A>CCA339973867MPLc.350A>C (p.Asn117Thr)
c.329A>C (p.Asn110Thr)
n.350A>C
c.521A>C (p.Asn174Thr)
1g.43338679A>GCA339973868MPLc.350A>G (p.Asn117Ser)
c.329A>G (p.Asn110Ser)
n.350A>G
c.521A>G (p.Asn174Ser)
1g.43338679A>TCA339973873MPLc.350A>T (p.Asn117Ile)
c.329A>T (p.Asn110Ile)
n.350A>T
c.521A>T (p.Asn174Ile)
1g.43338680C>ACA339973875MPLc.351C>A (p.Asn117Lys)
c.330C>A (p.Asn110Lys)
n.351C>A
c.522C>A (p.Asn174Lys)
1g.43338680C>GCA339973877MPLc.351C>G (p.Asn117Lys)
c.330C>G (p.Asn110Lys)
n.351C>G
c.522C>G (p.Asn174Lys)
1g.43338680C>TCA417417759MPLc.351C>T (p.Asn117=)
c.330C>T (p.Asn110=)
n.351C>T
c.522C>T (p.Asn174=)
 gnomAD v4
1g.43338680_43338681insTGTCTCTTATACA2580062794MPLc.351_352insTGTCTCTTATA (p.Gln118CysfsTer17)
c.330_331insTGTCTCTTATA (p.Gln111CysfsTer17)
n.351_352insTGTCTCTTATA
c.522_523insTGTCTCTTATA (p.Gln175CysfsTer17)
 ClinVar
1g.43338681C>ACA339973879MPLc.352C>A (p.Gln118Lys)
c.331C>A (p.Gln111Lys)
n.352C>A
c.523C>A (p.Gln175Lys)
1g.43338681C=CA1165576094MPLc.352C= (p.Gln118=)
c.331C= (p.Gln111=)
n.352C=
c.523C= (p.Gln175=)
1g.43338681C>GCA339973883MPLc.352C>G (p.Gln118Glu)
c.331C>G (p.Gln111Glu)
n.352C>G
c.523C>G (p.Gln175Glu)
 dbSNP
1g.43338681C>TCA339973887MPLc.352C>T (p.Gln118Ter)
c.331C>T (p.Gln111Ter)
n.352C>T
c.523C>T (p.Gln175Ter)
1g.43338682A>CCA339973892MPLc.353A>C (p.Gln118Pro)
c.332A>C (p.Gln111Pro)
n.353A>C
c.524A>C (p.Gln175Pro)
1g.43338682A>GCA339973893MPLc.353A>G (p.Gln118Arg)
c.332A>G (p.Gln111Arg)
n.353A>G
c.524A>G (p.Gln175Arg)
1g.43338682A>TCA339973894MPLc.353A>T (p.Gln118Leu)
c.332A>T (p.Gln111Leu)
n.353A>T
c.524A>T (p.Gln175Leu)
1g.43338683G>ACA417417778MPLc.354G>A (p.Gln118=)
c.333G>A (p.Gln111=)
n.354G>A
c.525G>A (p.Gln175=)
1g.43338683G>CCA806639MPLc.354G>C (p.Gln118His)
c.333G>C (p.Gln111His)
n.354G>C
c.525G>C (p.Gln175His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43338683G=CA1165576095MPLc.354G= (p.Gln118=)
c.333G= (p.Gln111=)
n.354G=
c.525G= (p.Gln175=)
1g.43338683G>TCA339973895MPLc.354G>T (p.Gln118His)
c.333G>T (p.Gln111His)
n.354G>T
c.525G>T (p.Gln175His)
 gnomAD v4
1g.43338684A>CCA339973897MPLc.355A>C (p.Thr119Pro)
c.334A>C (p.Thr112Pro)
n.355A>C
c.526A>C (p.Thr176Pro)
1g.43338684A>GCA339973899MPLc.355A>G (p.Thr119Ala)
c.334A>G (p.Thr112Ala)
n.355A>G
c.526A>G (p.Thr176Ala)
1g.43338684A>TCA339973901MPLc.355A>T (p.Thr119Ser)
c.334A>T (p.Thr112Ser)
n.355A>T
c.526A>T (p.Thr176Ser)
1g.43338685C>ACA339973905MPLc.356C>A (p.Thr119Asn)
c.335C>A (p.Thr112Asn)
n.356C>A
c.527C>A (p.Thr176Asn)
1g.43338685C>GCA339973908MPLc.356C>G (p.Thr119Ser)
c.335C>G (p.Thr112Ser)
n.356C>G
c.527C>G (p.Thr176Ser)
1g.43338685C>TCA339973910MPLc.356C>T (p.Thr119Ile)
c.335C>T (p.Thr112Ile)
n.356C>T
c.527C>T (p.Thr176Ile)
 gnomAD v4 COSMIC
1g.43338686T>ACA417417795MPLc.357T>A (p.Thr119=)
c.336T>A (p.Thr112=)
n.357T>A
c.528T>A (p.Thr176=)
 dbSNP
1g.43338686T>CCA417417799MPLc.357T>C (p.Thr119=)
c.336T>C (p.Thr112=)
n.357T>C
c.528T>C (p.Thr176=)
1g.43338686T>GCA417417814MPLc.357T>G (p.Thr119=)
c.336T>G (p.Thr112=)
n.357T>G
c.528T>G (p.Thr176=)
1g.43338687C>ACA417417818MPLc.358C>A (p.Arg120=)
c.337C>A (p.Arg113=)
n.358C>A
c.529C>A (p.Arg177=)
1g.43338687C=CA1165576096MPLc.358C= (p.Arg120=)
c.337C= (p.Arg113=)
n.358C=
c.529C= (p.Arg177=)
1g.43338687C>GCA339973918MPLc.358C>G (p.Arg120Gly)
c.337C>G (p.Arg113Gly)
n.358C>G
c.529C>G (p.Arg177Gly)
 gnomAD v4
1g.43338687C>TCA339973913MPLc.358C>T (p.Arg120Trp)
c.337C>T (p.Arg113Trp)
n.358C>T
c.529C>T (p.Arg177Trp)
 ClinVar dbSNP gnomAD v4
1g.43338688G>ACA806640MPLc.359G>A (p.Arg120Gln)
c.338G>A (p.Arg113Gln)
n.359G>A
c.530G>A (p.Arg177Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43338688G>CCA339973925MPLc.359G>C (p.Arg120Pro)
c.338G>C (p.Arg113Pro)
n.359G>C
c.530G>C (p.Arg177Pro)
1g.43338688G=CA1149113696MPLc.359G= (p.Arg120=)
c.338G= (p.Arg113=)
n.359G=
c.530G= (p.Arg177=)
1g.43338688G>TCA339973927MPLc.359G>T (p.Arg120Leu)
c.338G>T (p.Arg113Leu)
n.359G>T
c.530G>T (p.Arg177Leu)
1g.43338689G>ACA417417825MPLc.360G>A (p.Arg120=)
c.339G>A (p.Arg113=)
n.360G>A
c.531G>A (p.Arg177=)
1g.43338689G>CCA417417826MPLc.360G>C (p.Arg120=)
c.339G>C (p.Arg113=)
n.360G>C
c.531G>C (p.Arg177=)
 dbSNP
1g.43338689G>TCA417417828MPLc.360G>T (p.Arg120=)
c.339G>T (p.Arg113=)
n.360G>T
c.531G>T (p.Arg177=)
1g.43338690A=CA1165576097MPLc.361A= (p.Thr121=)
c.340A= (p.Thr114=)
n.361A=
c.532A= (p.Thr178=)
1g.43338690A>CCA339973930MPLc.361A>C (p.Thr121Pro)
c.340A>C (p.Thr114Pro)
n.361A>C
c.532A>C (p.Thr178Pro)
1g.43338690A>GCA339973933MPLc.361A>G (p.Thr121Ala)
c.340A>G (p.Thr114Ala)
n.361A>G
c.532A>G (p.Thr178Ala)
 dbSNP
1g.43338690A>TCA339973936MPLc.361A>T (p.Thr121Ser)
c.340A>T (p.Thr114Ser)
n.361A>T
c.532A>T (p.Thr178Ser)
1g.43338691C>ACA339973940MPLc.362C>A (p.Thr121Asn)
c.341C>A (p.Thr114Asn)
n.362C>A
c.533C>A (p.Thr178Asn)
1g.43338691C>GCA339973945MPLc.362C>G (p.Thr121Ser)
c.341C>G (p.Thr114Ser)
n.362C>G
c.533C>G (p.Thr178Ser)
1g.43338691C>TCA339973942MPLc.362C>T (p.Thr121Ile)
c.341C>T (p.Thr114Ile)
n.362C>T
c.533C>T (p.Thr178Ile)
1g.43338692T>ACA417417851MPLc.363T>A (p.Thr121=)
c.342T>A (p.Thr114=)
n.363T>A
c.534T>A (p.Thr178=)
 dbSNP
1g.43338692T>CCA417417853MPLc.363T>C (p.Thr121=)
c.342T>C (p.Thr114=)
n.363T>C
c.534T>C (p.Thr178=)
1g.43338692T>GCA417417856MPLc.363T>G (p.Thr121=)
c.342T>G (p.Thr114=)
n.363T>G
c.534T>G (p.Thr178=)
1g.43338693C>ACA339973957MPLc.364C>A (p.Gln122Lys)
c.343C>A (p.Gln115Lys)
n.364C>A
c.535C>A (p.Gln179Lys)
1g.43338693C>GCA339973960MPLc.364C>G (p.Gln122Glu)
c.343C>G (p.Gln115Glu)
n.364C>G
c.535C>G (p.Gln179Glu)
 dbSNP
1g.43338693C>TCA339973963MPLc.364C>T (p.Gln122Ter)
c.343C>T (p.Gln115Ter)
n.364C>T
c.535C>T (p.Gln179Ter)
1g.43338694A>CCA339973967MPLc.365A>C (p.Gln122Pro)
c.344A>C (p.Gln115Pro)
n.365A>C
c.536A>C (p.Gln179Pro)
1g.43338694A>GCA339973968MPLc.365A>G (p.Gln122Arg)
c.344A>G (p.Gln115Arg)
n.365A>G
c.536A>G (p.Gln179Arg)
1g.43338694A>TCA339973969MPLc.365A>T (p.Gln122Leu)
c.344A>T (p.Gln115Leu)
n.365A>T
c.536A>T (p.Gln179Leu)
1g.43338694_43338695delinsTCA2580062796MPLc.365_366delinsT (p.Gln122LeufsTer9)
c.344_345delinsT (p.Gln115LeufsTer9)
n.365_366delinsT
c.536_537delinsT (p.Gln179LeufsTer9)
 ClinVar
1g.43338695G>ACA417417880MPLc.366G>A (p.Gln122=)
c.345G>A (p.Gln115=)
n.366G>A
c.537G>A (p.Gln179=)
 ClinVar dbSNP COSMIC
1g.43338695G>CCA339973970MPLc.366G>C (p.Gln122His)
c.345G>C (p.Gln115His)
n.366G>C
c.537G>C (p.Gln179His)
1g.43338695G>TCA339973973MPLc.366G>T (p.Gln122His)
c.345G>T (p.Gln115His)
n.366G>T
c.537G>T (p.Gln179His)
 gnomAD v4
1g.43338696C>ACA417417887MPLc.367C>A (p.Arg123=)
c.346C>A (p.Arg116=)
n.367C>A
c.538C>A (p.Arg180=)
 ClinVar dbSNP gnomAD v4
1g.43338696C=CA1165576098MPLc.367C= (p.Arg123=)
c.346C= (p.Arg116=)
n.367C=
c.538C= (p.Arg180=)
1g.43338696C>GCA339973976MPLc.367C>G (p.Arg123Gly)
c.346C>G (p.Arg116Gly)
n.367C>G
c.538C>G (p.Arg180Gly)
 gnomAD v4
1g.43338696C>TCA339973978MPLc.367C>T (p.Arg123Ter)
c.346C>T (p.Arg116Ter)
n.367C>T
c.538C>T (p.Arg180Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.43338697G>ACA806641MPLc.368G>A (p.Arg123Gln)
c.347G>A (p.Arg116Gln)
n.368G>A
c.539G>A (p.Arg180Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43338697G>CCA339973985MPLc.368G>C (p.Arg123Pro)
c.347G>C (p.Arg116Pro)
n.368G>C
c.539G>C (p.Arg180Pro)
1g.43338697G=CA1165576099MPLc.368G= (p.Arg123=)
c.347G= (p.Arg116=)
n.368G=
c.539G= (p.Arg180=)
1g.43338697G>TCA339973983MPLc.368G>T (p.Arg123Leu)
c.347G>T (p.Arg116Leu)
n.368G>T
c.539G>T (p.Arg180Leu)
 dbSNP
1g.43338698A>CCA417417900MPLc.369A>C (p.Arg123=)
c.348A>C (p.Arg116=)
n.369A>C
c.540A>C (p.Arg180=)
1g.43338698A>GCA417417902MPLc.369A>G (p.Arg123=)
c.348A>G (p.Arg116=)
n.369A>G
c.540A>G (p.Arg180=)
1g.43338698A>TCA417417905MPLc.369A>T (p.Arg123=)
c.348A>T (p.Arg116=)
n.369A>T
c.540A>T (p.Arg180=)
 dbSNP
1g.43338699G>ACA339973988MPLc.370G>A (p.Val124Ile)
c.349G>A (p.Val117Ile)
n.370G>A
c.541G>A (p.Val181Ile)
1g.43338699G>CCA806642MPLc.370G>C (p.Val124Leu)
c.349G>C (p.Val117Leu)
n.370G>C
c.541G>C (p.Val181Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.43338699G=CA1165576100MPLc.370G= (p.Val124=)
c.349G= (p.Val117=)
n.370G=
c.541G= (p.Val181=)
1g.43338699G>TCA339973991MPLc.370G>T (p.Val124Phe)
c.349G>T (p.Val117Phe)
n.370G>T
c.541G>T (p.Val181Phe)
1g.43338700T>ACA339973995MPLc.371T>A (p.Val124Asp)
c.350T>A (p.Val117Asp)
n.371T>A
c.542T>A (p.Val181Asp)
1g.43338700T>CCA339973997MPLc.371T>C (p.Val124Ala)
c.350T>C (p.Val117Ala)
n.371T>C
c.542T>C (p.Val181Ala)
1g.43338700T>GCA339973999MPLc.371T>G (p.Val124Gly)
c.350T>G (p.Val117Gly)
n.371T>G
c.542T>G (p.Val181Gly)
1g.43338701C>ACA417417922MPLc.372C>A (p.Val124=)
c.351C>A (p.Val117=)
n.372C>A
c.543C>A (p.Val181=)
 gnomAD v4
1g.43338701C>GCA417417923MPLc.372C>G (p.Val124=)
c.351C>G (p.Val117=)
n.372C>G
c.543C>G (p.Val181=)
1g.43338701C>TCA417417924MPLc.372C>T (p.Val124=)
c.351C>T (p.Val117=)
n.372C>T
c.543C>T (p.Val181=)
1g.43338702C>ACA339974002MPLc.373C>A (p.Leu125Ile)
c.352C>A (p.Leu118Ile)
n.373C>A
c.544C>A (p.Leu182Ile)
1g.43338702C>GCA339974003MPLc.373C>G (p.Leu125Val)
c.352C>G (p.Leu118Val)
n.373C>G
c.544C>G (p.Leu182Val)
1g.43338702C>TCA339974005MPLc.373C>T (p.Leu125Phe)
c.352C>T (p.Leu118Phe)
n.373C>T
c.544C>T (p.Leu182Phe)
1g.43338702_43338703delinsCTCA1165576101MPLc.373_374delinsCT (p.Leu125=)
c.352_353delinsCT (p.Leu118=)
n.373_374delinsCT
c.544_545delinsCT (p.Leu182=)
1g.43338703delCA916162774MPLc.374del (p.Leu125ProfsTer6)
c.353del (p.Leu118ProfsTer6)
n.374del
c.545del (p.Leu182ProfsTer6)
 dbSNP
1g.43338703T>ACA339974014MPLc.374T>A (p.Leu125His)
c.353T>A (p.Leu118His)
n.374T>A
c.545T>A (p.Leu182His)
1g.43338703T>CCA806643MPLc.374T>C (p.Leu125Pro)
c.353T>C (p.Leu118Pro)
n.374T>C
c.545T>C (p.Leu182Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.43338703T>GCA339974012MPLc.374T>G (p.Leu125Arg)
c.353T>G (p.Leu118Arg)
n.374T>G
c.545T>G (p.Leu182Arg)
1g.43338703T=CA1165576102MPLc.374T= (p.Leu125=)
c.353T= (p.Leu118=)
n.374T=
c.545T= (p.Leu182=)
1g.43338704C>ACA417417942MPLc.375C>A (p.Leu125=)
c.354C>A (p.Leu118=)
n.375C>A
c.546C>A (p.Leu182=)
1g.43338704C>GCA417417944MPLc.375C>G (p.Leu125=)
c.354C>G (p.Leu118=)
n.375C>G
c.546C>G (p.Leu182=)
 dbSNP
1g.43338704C>TCA417417947MPLc.375C>T (p.Leu125=)
c.354C>T (p.Leu118=)
n.375C>T
c.546C>T (p.Leu182=)
1g.43338704_43338705delinsCTCA1165576103MPLc.375_376delinsCT (p.Leu125=)
c.354_355delinsCT (p.Leu118=)
n.375_376delinsCT
c.546_547delinsCT (p.Leu182=)
1g.43338705T>ACA339974024MPLc.376T>A (p.Phe126Ile)
c.355T>A (p.Phe119Ile)
n.376T>A
c.547T>A (p.Phe183Ile)
1g.43338705T>CCA339974028MPLc.376T>C (p.Phe126Leu)
c.355T>C (p.Phe119Leu)
n.376T>C
c.547T>C (p.Phe183Leu)
1g.43338705T>GCA339974031MPLc.376T>G (p.Phe126Val)
c.355T>G (p.Phe119Val)
n.376T>G
c.547T>G (p.Phe183Val)
1g.43338705_43338707delinsTTTCA1148224238MPLc.376_378delinsTTT (p.Phe126=)
c.355_357delinsTTT (p.Phe119=)
n.376_378delinsTTT
c.547_549delinsTTT (p.Phe183=)
1g.43338707dupCA1165576104MPLc.378dup (p.Val127CysfsTer?)
c.357dup (p.Val120CysfsTer?)
n.378dup
c.549dup (p.Val184CysfsTer?)
 dbSNP
1g.43338707delCA160817MPLc.378del (p.Phe126LeufsTer5)
c.357del (p.Phe119LeufsTer5)
n.378del
c.549del (p.Phe183LeufsTer5)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43338706T>ACA339974040MPLc.377T>A (p.Phe126Tyr)
c.356T>A (p.Phe119Tyr)
n.377T>A
c.548T>A (p.Phe183Tyr)
1g.43338706T>CCA339974038MPLc.377T>C (p.Phe126Ser)
c.356T>C (p.Phe119Ser)
n.377T>C
c.548T>C (p.Phe183Ser)
1g.43338706T>GCA339974036MPLc.377T>G (p.Phe126Cys)
c.356T>G (p.Phe119Cys)
n.377T>G
c.548T>G (p.Phe183Cys)
1g.43338707T>ACA339974044MPLc.378T>A (p.Phe126Leu)
c.357T>A (p.Phe119Leu)
n.378T>A
c.549T>A (p.Phe183Leu)
1g.43338707T>CCA417417977MPLc.378T>C (p.Phe126=)
c.357T>C (p.Phe119=)
n.378T>C
c.549T>C (p.Phe183=)
1g.43338707T>GCA339974046MPLc.378T>G (p.Phe126Leu)
c.357T>G (p.Phe119Leu)
n.378T>G
c.549T>G (p.Phe183Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.43338707T=CA1165576105MPLc.378T= (p.Phe126=)
c.357T= (p.Phe119=)
n.378T=
c.549T= (p.Phe183=)
1g.43338708G>ACA339974050MPLc.379G>A (p.Val127Met)
c.358G>A (p.Val120Met)
n.379G>A
c.550G>A (p.Val184Met)
1g.43338708G>CCA339974053MPLc.379G>C (p.Val127Leu)
c.358G>C (p.Val120Leu)
n.379G>C
c.550G>C (p.Val184Leu)
1g.43338708G>TCA339974056MPLc.379G>T (p.Val127Leu)
c.358G>T (p.Val120Leu)
n.379G>T
c.550G>T (p.Val184Leu)
1g.43338709T>ACA339974059MPLc.380T>A (p.Val127Glu)
c.359T>A (p.Val120Glu)
n.380T>A
c.551T>A (p.Val184Glu)
1g.43338709T>CCA339974062MPLc.380T>C (p.Val127Ala)
c.359T>C (p.Val120Ala)
n.380T>C
c.551T>C (p.Val184Ala)
1g.43338709T>GCA339974064MPLc.380T>G (p.Val127Gly)
c.359T>G (p.Val120Gly)
n.380T>G
c.551T>G (p.Val184Gly)
1g.43338710G>ACA417417995MPLc.381G>A (p.Val127=)
c.360G>A (p.Val120=)
n.381G>A
c.552G>A (p.Val184=)
1g.43338710G>CCA417417997MPLc.381G>C (p.Val127=)
c.360G>C (p.Val120=)
n.381G>C
c.552G>C (p.Val184=)
1g.43338710G>TCA417418000MPLc.381G>T (p.Val127=)
c.360G>T (p.Val120=)
n.381G>T
c.552G>T (p.Val184=)
 gnomAD v4
1g.43338711G>ACA339974070MPLc.382G>A (p.Asp128Asn)
c.361G>A (p.Asp121Asn)
n.382G>A
c.553G>A (p.Asp185Asn)
 dbSNP
1g.43338711G>CCA339974073MPLc.382G>C (p.Asp128His)
c.361G>C (p.Asp121His)
n.382G>C
c.553G>C (p.Asp185His)
1g.43338711G=CA1143460260MPLc.382G= (p.Asp128=)
c.361G= (p.Asp121=)
n.382G=
c.553G= (p.Asp185=)
1g.43338711G>TCA806644MPLc.382G>T (p.Asp128Tyr)
c.361G>T (p.Asp121Tyr)
n.382G>T
c.553G>T (p.Asp185Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.43338712A>CCA339974078MPLc.383A>C (p.Asp128Ala)
c.362A>C (p.Asp121Ala)
n.383A>C
c.554A>C (p.Asp185Ala)
1g.43338712A>GCA339974085MPLc.383A>G (p.Asp128Gly)
c.362A>G (p.Asp121Gly)
n.383A>G
c.554A>G (p.Asp185Gly)
1g.43338712A>TCA339974081MPLc.383A>T (p.Asp128Val)
c.362A>T (p.Asp121Val)
n.383A>T
c.554A>T (p.Asp185Val)
1g.43338713C>ACA339974089MPLc.384C>A (p.Asp128Glu)
c.363C>A (p.Asp121Glu)
n.384C>A
c.555C>A (p.Asp185Glu)
1g.43338713C>GCA339974091MPLc.384C>G (p.Asp128Glu)
c.363C>G (p.Asp121Glu)
n.384C>G
c.555C>G (p.Asp185Glu)
 gnomAD v4
1g.43338713C>TCA417418021MPLc.384C>T (p.Asp128=)
c.363C>T (p.Asp121=)
n.384C>T
c.555C>T (p.Asp185=)
1g.43338714A>CCA339974099MPLc.385A>C (p.Ser129Arg)
c.364A>C (p.Ser122Arg)
n.385A>C
c.556A>C (p.Ser186Arg)
1g.43338714A>GCA339974101MPLc.385A>G (p.Ser129Gly)
c.364A>G (p.Ser122Gly)
n.385A>G
c.556A>G (p.Ser186Gly)
1g.43338714A>TCA339974102MPLc.385A>T (p.Ser129Cys)
c.364A>T (p.Ser122Cys)
n.385A>T
c.556A>T (p.Ser186Cys)
1g.43338715G>ACA339974106MPLc.386G>A (p.Ser129Asn)
c.365G>A (p.Ser122Asn)
n.386G>A
c.557G>A (p.Ser186Asn)
 dbSNP
1g.43338715G>CCA339974109MPLc.386G>C (p.Ser129Thr)
c.365G>C (p.Ser122Thr)
n.386G>C
c.557G>C (p.Ser186Thr)
 gnomAD v4
1g.43338715G>TCA339974111MPLc.386G>T (p.Ser129Ile)
c.365G>T (p.Ser122Ile)
n.386G>T
c.557G>T (p.Ser186Ile)
1g.43338717_43338718delCA2740090653MPLc.388_389del (p.Val130ArgfsTer?)
c.367_368del (p.Val123ArgfsTer?)
n.388_389del
c.559_560del (p.Val187ArgfsTer?)
 ClinVar
1g.43338716T>ACA339974114MPLc.387T>A (p.Ser129Arg)
c.366T>A (p.Ser122Arg)
n.387T>A
c.558T>A (p.Ser186Arg)
1g.43338716T>CCA417418049MPLc.387T>C (p.Ser129=)
c.366T>C (p.Ser122=)
n.387T>C
c.558T>C (p.Ser186=)
 dbSNP gnomAD v2 gnomAD v4
1g.43338716T>GCA339974116MPLc.387T>G (p.Ser129Arg)
c.366T>G (p.Ser122Arg)
n.387T>G
c.558T>G (p.Ser186Arg)
1g.43338716T=CA1165576106MPLc.387T= (p.Ser129=)
c.366T= (p.Ser122=)
n.387T=
c.558T= (p.Ser186=)
1g.43338717G>ACA339974119MPLc.388G>A (p.Val130Ile)
c.367G>A (p.Val123Ile)
n.388G>A
c.559G>A (p.Val187Ile)
 dbSNP
1g.43338717G>CCA339974121MPLc.388G>C (p.Val130Leu)
c.367G>C (p.Val123Leu)
n.388G>C
c.559G>C (p.Val187Leu)
1g.43338717G>TCA339974123MPLc.388G>T (p.Val130Leu)
c.367G>T (p.Val123Leu)
n.388G>T
c.559G>T (p.Val187Leu)

Number of alleles fetched