Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.43338607_43338614dup | CA2740090652 | MPL | c.278_285dup (p.Pro96AlafsTer19) c.257_264dup (p.Pro89AlafsTer19) n.278_285dup c.449_456dup (p.Pro153AlafsTer19) | ClinVar |
1 | g.43338613T>A | CA339973487 | MPL | c.284T>A (p.Phe95Tyr) c.263T>A (p.Phe88Tyr) n.284T>A c.455T>A (p.Phe152Tyr) | |
1 | g.43338613T>C | CA339973489 | MPL | c.284T>C (p.Phe95Ser) c.263T>C (p.Phe88Ser) n.284T>C c.455T>C (p.Phe152Ser) | |
1 | g.43338613T>G | CA339973491 | MPL | c.284T>G (p.Phe95Cys) c.263T>G (p.Phe88Cys) n.284T>G c.455T>G (p.Phe152Cys) | |
1 | g.43338614T>A | CA339973493 | MPL | c.285T>A (p.Phe95Leu) c.264T>A (p.Phe88Leu) n.285T>A c.456T>A (p.Phe152Leu) | |
1 | g.43338614T>C | CA417417392 | MPL | c.285T>C (p.Phe95=) c.264T>C (p.Phe88=) n.285T>C c.456T>C (p.Phe152=) | |
1 | g.43338614T>G | CA339973495 | MPL | c.285T>G (p.Phe95Leu) c.264T>G (p.Phe88Leu) n.285T>G c.456T>G (p.Phe152Leu) | gnomAD v4 |
1 | g.43338615C>A | CA339973497 | MPL | c.286C>A (p.Pro96Thr) c.265C>A (p.Pro89Thr) n.286C>A c.457C>A (p.Pro153Thr) | |
1 | g.43338615C= | CA1165576071 | MPL | c.286C= (p.Pro96=) c.265C= (p.Pro89=) n.286C= c.457C= (p.Pro153=) | |
1 | g.43338615C>G | CA339973498 | MPL | c.286C>G (p.Pro96Ala) c.265C>G (p.Pro89Ala) n.286C>G c.457C>G (p.Pro153Ala) | |
1 | g.43338615C>T | CA339973500 | MPL | c.286C>T (p.Pro96Ser) c.265C>T (p.Pro89Ser) n.286C>T c.457C>T (p.Pro153Ser) | dbSNP gnomAD v4 |
1 | g.43338615_43338616insTTCT | CA2695806192 | MPL | c.286_287insTTCT (p.Pro96LeufsTer?) c.265_266insTTCT (p.Pro89LeufsTer?) n.286_287insTTCT c.457_458insTTCT (p.Pro153LeufsTer?) | dbSNP |
1 | g.43338616C>A | CA339973505 | MPL | c.287C>A (p.Pro96Gln) c.266C>A (p.Pro89Gln) n.287C>A c.458C>A (p.Pro153Gln) | |
1 | g.43338616C>G | CA339973504 | MPL | c.287C>G (p.Pro96Arg) c.266C>G (p.Pro89Arg) n.287C>G c.458C>G (p.Pro153Arg) | |
1 | g.43338616C>T | CA339973503 | MPL | c.287C>T (p.Pro96Leu) c.266C>T (p.Pro89Leu) n.287C>T c.458C>T (p.Pro153Leu) | |
1 | g.43338617A>C | CA417417394 | MPL | c.288A>C (p.Pro96=) c.267A>C (p.Pro89=) n.288A>C c.459A>C (p.Pro153=) | |
1 | g.43338617A>G | CA417417395 | MPL | c.288A>G (p.Pro96=) c.267A>G (p.Pro89=) n.288A>G c.459A>G (p.Pro153=) | |
1 | g.43338617A>T | CA417417397 | MPL | c.288A>T (p.Pro96=) c.267A>T (p.Pro89=) n.288A>T c.459A>T (p.Pro153=) | |
1 | g.43338617_43338618insCTGCCTGGGATAGGTGG | CA2695806195 | MPL | c.288_289insCTGCCTGGGATAGGTGG (p.Asp97LeufsTer21) c.267_268insCTGCCTGGGATAGGTGG (p.Asp90LeufsTer21) n.288_289insCTGCCTGGGATAGGTGG c.459_460insCTGCCTGGGATAGGTGG (p.Asp154LeufsTer21) | dbSNP |
1 | g.43338618G>A | CA339973508 | MPL | c.289G>A (p.Asp97Asn) c.268G>A (p.Asp90Asn) n.289G>A c.460G>A (p.Asp154Asn) | |
1 | g.43338618G>C | CA339973511 | MPL | c.289G>C (p.Asp97His) c.268G>C (p.Asp90His) n.289G>C c.460G>C (p.Asp154His) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.43338618G= | CA1165576072 | MPL | c.289G= (p.Asp97=) c.268G= (p.Asp90=) n.289G= c.460G= (p.Asp154=) | |
1 | g.43338618G>T | CA339973510 | MPL | c.289G>T (p.Asp97Tyr) c.268G>T (p.Asp90Tyr) n.289G>T c.460G>T (p.Asp154Tyr) | COSMIC |
1 | g.43338619A>C | CA339973514 | MPL | c.290A>C (p.Asp97Ala) c.269A>C (p.Asp90Ala) n.290A>C c.461A>C (p.Asp154Ala) | |
1 | g.43338619A>G | CA339973516 | MPL | c.290A>G (p.Asp97Gly) c.269A>G (p.Asp90Gly) n.290A>G c.461A>G (p.Asp154Gly) | gnomAD v4 |
1 | g.43338619A>T | CA339973518 | MPL | c.290A>T (p.Asp97Val) c.269A>T (p.Asp90Val) n.290A>T c.461A>T (p.Asp154Val) | |
1 | g.43338620C>A | CA339973520 | MPL | c.291C>A (p.Asp97Glu) c.270C>A (p.Asp90Glu) n.291C>A c.462C>A (p.Asp154Glu) | dbSNP |
1 | g.43338620C>G | CA339973521 | MPL | c.291C>G (p.Asp97Glu) c.270C>G (p.Asp90Glu) n.291C>G c.462C>G (p.Asp154Glu) | |
1 | g.43338620C>T | CA417417403 | MPL | c.291C>T (p.Asp97=) c.270C>T (p.Asp90=) n.291C>T c.462C>T (p.Asp154=) | |
1 | g.43338621C>A | CA339973524 | MPL | c.292C>A (p.Gln98Lys) c.271C>A (p.Gln91Lys) n.292C>A c.463C>A (p.Gln155Lys) | |
1 | g.43338621C= | CA1165576073 | MPL | c.292C= (p.Gln98=) c.271C= (p.Gln91=) n.292C= c.463C= (p.Gln155=) | |
1 | g.43338621C>G | CA806630 | MPL | c.292C>G (p.Gln98Glu) c.271C>G (p.Gln91Glu) n.292C>G c.463C>G (p.Gln155Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.43338621C>T | CA339973526 | MPL | c.292C>T (p.Gln98Ter) c.271C>T (p.Gln91Ter) n.292C>T c.463C>T (p.Gln155Ter) | ClinVar dbSNP |
1 | g.43338622A>C | CA339973529 | MPL | c.293A>C (p.Gln98Pro) c.272A>C (p.Gln91Pro) n.293A>C c.464A>C (p.Gln155Pro) | |
1 | g.43338622A>G | CA339973530 | MPL | c.293A>G (p.Gln98Arg) c.272A>G (p.Gln91Arg) n.293A>G c.464A>G (p.Gln155Arg) | |
1 | g.43338622A>T | CA339973532 | MPL | c.293A>T (p.Gln98Leu) c.272A>T (p.Gln91Leu) n.293A>T c.464A>T (p.Gln155Leu) | |
1 | g.43338623G>A | CA21607259 | MPL | c.294G>A (p.Gln98=) c.273G>A (p.Gln91=) n.294G>A c.465G>A (p.Gln155=) | dbSNP |
1 | g.43338623G>C | CA339973535 | MPL | c.294G>C (p.Gln98His) c.273G>C (p.Gln91His) n.294G>C c.465G>C (p.Gln155His) | |
1 | g.43338623G= | CA1165576074 | MPL | c.294G= (p.Gln98=) c.273G= (p.Gln91=) n.294G= c.465G= (p.Gln155=) | |
1 | g.43338623G>T | CA339973536 | MPL | c.294G>T (p.Gln98His) c.273G>T (p.Gln91His) n.294G>T c.465G>T (p.Gln155His) | |
1 | g.43338624G>A | CA21607262 | MPL | c.295G>A (p.Glu99Lys) c.274G>A (p.Glu92Lys) n.295G>A c.466G>A (p.Glu156Lys) | dbSNP |
1 | g.43338624G>C | CA339973542 | MPL | c.295G>C (p.Glu99Gln) c.274G>C (p.Glu92Gln) n.295G>C c.466G>C (p.Glu156Gln) | |
1 | g.43338624G= | CA1143537895 | MPL | c.295G= (p.Glu99=) c.274G= (p.Glu92=) n.295G= c.466G= (p.Glu156=) | |
1 | g.43338624G>T | CA339973540 | MPL | c.295G>T (p.Glu99Ter) c.274G>T (p.Glu92Ter) n.295G>T c.466G>T (p.Glu156Ter) | |
1 | g.43338625A>C | CA339973544 | MPL | c.296A>C (p.Glu99Ala) c.275A>C (p.Glu92Ala) n.296A>C c.467A>C (p.Glu156Ala) | |
1 | g.43338625A>G | CA339973546 | MPL | c.296A>G (p.Glu99Gly) c.275A>G (p.Glu92Gly) n.296A>G c.467A>G (p.Glu156Gly) | |
1 | g.43338625A>T | CA339973548 | MPL | c.296A>T (p.Glu99Val) c.275A>T (p.Glu92Val) n.296A>T c.467A>T (p.Glu156Val) | |
1 | g.43338625_43338626delinsAG | CA1165576075 | MPL | c.296_297delinsAG (p.Glu99=) c.275_276delinsAG (p.Glu92=) n.296_297delinsAG c.467_468delinsAG (p.Glu156=) | |
1 | g.43338626G>A | CA417417413 | MPL | c.297G>A (p.Glu99=) c.276G>A (p.Glu92=) n.297G>A c.468G>A (p.Glu156=) | gnomAD v4 COSMIC COSMIC |
1 | g.43338626G>C | CA339973550 | MPL | c.297G>C (p.Glu99Asp) c.276G>C (p.Glu92Asp) n.297G>C c.468G>C (p.Glu156Asp) | |
1 | g.43338626G>T | CA339973552 | MPL | c.297G>T (p.Glu99Asp) c.276G>T (p.Glu92Asp) n.297G>T c.468G>T (p.Glu156Asp) | |
1 | g.43338627del | CA522806113 | MPL | c.298del (p.Glu100LysfsTer12) c.277del (p.Glu93LysfsTer12) n.298del c.469del (p.Glu157LysfsTer12) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.43338627G>A | CA806631 | MPL | c.298G>A (p.Glu100Lys) c.277G>A (p.Glu93Lys) n.298G>A c.469G>A (p.Glu157Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.43338627G>C | CA339973555 | MPL | c.298G>C (p.Glu100Gln) c.277G>C (p.Glu93Gln) n.298G>C c.469G>C (p.Glu157Gln) | |
1 | g.43338627G= | CA1165576076 | MPL | c.298G= (p.Glu100=) c.277G= (p.Glu93=) n.298G= c.469G= (p.Glu157=) | |
1 | g.43338627G>T | CA339973556 | MPL | c.298G>T (p.Glu100Ter) c.277G>T (p.Glu93Ter) n.298G>T c.469G>T (p.Glu157Ter) | |
1 | g.43338628A= | CA1165576077 | MPL | c.299A= (p.Glu100=) c.278A= (p.Glu93=) n.299A= c.470A= (p.Glu157=) | |
1 | g.43338628A>C | CA339973559 | MPL | c.299A>C (p.Glu100Ala) c.278A>C (p.Glu93Ala) n.299A>C c.470A>C (p.Glu157Ala) | |
1 | g.43338628A>G | CA339973560 | MPL | c.299A>G (p.Glu100Gly) c.278A>G (p.Glu93Gly) n.299A>G c.470A>G (p.Glu157Gly) | |
1 | g.43338628A>T | CA339973562 | MPL | c.299A>T (p.Glu100Val) c.278A>T (p.Glu93Val) n.299A>T c.470A>T (p.Glu157Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.43338629A>C | CA339973564 | MPL | c.300A>C (p.Glu100Asp) c.279A>C (p.Glu93Asp) n.300A>C c.471A>C (p.Glu157Asp) | |
1 | g.43338629A>G | CA417417419 | MPL | c.300A>G (p.Glu100=) c.279A>G (p.Glu93=) n.300A>G c.471A>G (p.Glu157=) | |
1 | g.43338629A>T | CA339973566 | MPL | c.300A>T (p.Glu100Asp) c.279A>T (p.Glu93Asp) n.300A>T c.471A>T (p.Glu157Asp) | |
1 | g.43338630G>A | CA339973567 | MPL | c.301G>A (p.Val101Met) c.280G>A (p.Val94Met) n.301G>A c.472G>A (p.Val158Met) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.43338630G>C | CA339973569 | MPL | c.301G>C (p.Val101Leu) c.280G>C (p.Val94Leu) n.301G>C c.472G>C (p.Val158Leu) | |
1 | g.43338630G= | CA1165576078 | MPL | c.301G= (p.Val101=) c.280G= (p.Val94=) n.301G= c.472G= (p.Val158=) | |
1 | g.43338630G>T | CA339973571 | MPL | c.301G>T (p.Val101Leu) c.280G>T (p.Val94Leu) n.301G>T c.472G>T (p.Val158Leu) | |
1 | g.43338631T>A | CA339973574 | MPL | c.302T>A (p.Val101Glu) c.281T>A (p.Val94Glu) n.302T>A c.473T>A (p.Val158Glu) | |
1 | g.43338631T>C | CA339973575 | MPL | c.302T>C (p.Val101Ala) c.281T>C (p.Val94Ala) n.302T>C c.473T>C (p.Val158Ala) | |
1 | g.43338631T>G | CA339973576 | MPL | c.302T>G (p.Val101Gly) c.281T>G (p.Val94Gly) n.302T>G c.473T>G (p.Val158Gly) | |
1 | g.43338632G>A | CA417417422 | MPL | c.303G>A (p.Val101=) c.282G>A (p.Val94=) n.303G>A c.474G>A (p.Val158=) | gnomAD v4 |
1 | g.43338632G>C | CA417417423 | MPL | c.303G>C (p.Val101=) c.282G>C (p.Val94=) n.303G>C c.474G>C (p.Val158=) | |
1 | g.43338632G>T | CA417417424 | MPL | c.303G>T (p.Val101=) c.282G>T (p.Val94=) n.303G>T c.474G>T (p.Val158=) | |
1 | g.43338633C>A | CA339973579 | MPL | c.304C>A (p.Arg102Ser) c.283C>A (p.Arg95Ser) n.304C>A c.475C>A (p.Arg159Ser) | dbSNP |
1 | g.43338633C= | CA1165576079 | MPL | c.304C= (p.Arg102=) c.283C= (p.Arg95=) n.304C= c.475C= (p.Arg159=) | |
1 | g.43338633C>G | CA339973581 | MPL | c.304C>G (p.Arg102Gly) c.283C>G (p.Arg95Gly) n.304C>G c.475C>G (p.Arg159Gly) | |
1 | g.43338633C>T | CA806632 | MPL | c.304C>T (p.Arg102Cys) c.283C>T (p.Arg95Cys) n.304C>T c.475C>T (p.Arg159Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.43338634G>A | CA339973584 | MPL | c.305G>A (p.Arg102His) c.284G>A (p.Arg95His) n.305G>A c.476G>A (p.Arg159His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43338634G>C | CA123780 | MPL | c.305G>C (p.Arg102Pro) c.284G>C (p.Arg95Pro) n.305G>C c.476G>C (p.Arg159Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43338634G= | CA1140495612 | MPL | c.305G= (p.Arg102=) c.284G= (p.Arg95=) n.305G= c.476G= (p.Arg159=) | |
1 | g.43338634G>T | CA339973585 | MPL | c.305G>T (p.Arg102Leu) c.284G>T (p.Arg95Leu) n.305G>T c.476G>T (p.Arg159Leu) | |
1 | g.43338635T>A | CA417417429 | MPL | c.306T>A (p.Arg102=) c.285T>A (p.Arg95=) n.306T>A c.477T>A (p.Arg159=) | ClinVar dbSNP |
1 | g.43338635T>C | CA806633 | MPL | c.306T>C (p.Arg102=) c.285T>C (p.Arg95=) n.306T>C c.477T>C (p.Arg159=) | ClinVar dbSNP ExAC gnomAD v4 |
1 | g.43338635T>G | CA417417431 | MPL | c.306T>G (p.Arg102=) c.285T>G (p.Arg95=) n.306T>G c.477T>G (p.Arg159=) | |
1 | g.43338635T= | CA1141737540 | MPL | c.306T= (p.Arg102=) c.285T= (p.Arg95=) n.306T= c.477T= (p.Arg159=) | |
1 | g.43338636C>A | CA339973593 | MPL | c.307C>A (p.Leu103Ile) c.286C>A (p.Leu96Ile) n.307C>A c.478C>A (p.Leu160Ile) | dbSNP |
1 | g.43338636C>G | CA339973589 | MPL | c.307C>G (p.Leu103Val) c.286C>G (p.Leu96Val) n.307C>G c.478C>G (p.Leu160Val) | |
1 | g.43338636C>T | CA339973591 | MPL | c.307C>T (p.Leu103Phe) c.286C>T (p.Leu96Phe) n.307C>T c.478C>T (p.Leu160Phe) | gnomAD v4 |
1 | g.43338636_43338637delinsCT | CA1165576080 | MPL | c.307_308delinsCT (p.Leu103=) c.286_287delinsCT (p.Leu96=) n.307_308delinsCT c.478_479delinsCT (p.Leu160=) | |
1 | g.43338637del | CA522806114 | MPL | c.308del (p.Leu103ProfsTer9) c.287del (p.Leu96ProfsTer9) n.308del c.479del (p.Leu160ProfsTer9) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.43338637T>A | CA339973595 | MPL | c.308T>A (p.Leu103His) c.287T>A (p.Leu96His) n.308T>A c.479T>A (p.Leu160His) | |
1 | g.43338637T>C | CA339973597 | MPL | c.308T>C (p.Leu103Pro) c.287T>C (p.Leu96Pro) n.308T>C c.479T>C (p.Leu160Pro) | gnomAD v4 |
1 | g.43338637T>G | CA339973599 | MPL | c.308T>G (p.Leu103Arg) c.287T>G (p.Leu96Arg) n.308T>G c.479T>G (p.Leu160Arg) | |
1 | g.43338638C>A | CA417417438 | MPL | c.309C>A (p.Leu103=) c.288C>A (p.Leu96=) n.309C>A c.480C>A (p.Leu160=) | ClinVar |
1 | g.43338638C>G | CA417417440 | MPL | c.309C>G (p.Leu103=) c.288C>G (p.Leu96=) n.309C>G c.480C>G (p.Leu160=) | |
1 | g.43338638C>T | CA417417443 | MPL | c.309C>T (p.Leu103=) c.288C>T (p.Leu96=) n.309C>T c.480C>T (p.Leu160=) | |
1 | g.43338638_43338640delinsCTT | CA1165576081 | MPL | c.309_311delinsCTT (p.Leu103=) c.288_290delinsCTT (p.Leu96=) n.309_311delinsCTT c.480_482delinsCTT (p.Leu160=) | |
1 | g.43338639T>A | CA339973600 | MPL | c.310T>A (p.Phe104Ile) c.289T>A (p.Phe97Ile) n.310T>A c.481T>A (p.Phe161Ile) | |
1 | g.43338639T>C | CA339973602 | MPL | c.310T>C (p.Phe104Leu) c.289T>C (p.Phe97Leu) n.310T>C c.481T>C (p.Phe161Leu) | |
1 | g.43338639T>G | CA339973604 | MPL | c.310T>G (p.Phe104Val) c.289T>G (p.Phe97Val) n.310T>G c.481T>G (p.Phe161Val) | |
1 | g.43338639_43338640del | CA522806115 | MPL | c.310_311del (p.Phe104LeufsTer?) c.289_290del (p.Phe97LeufsTer?) n.310_311del c.481_482del (p.Phe161LeufsTer?) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.43338640del | CA2573132307 | MPL | c.311del (p.Phe104SerfsTer8) c.290del (p.Phe97SerfsTer8) n.311del c.482del (p.Phe161SerfsTer8) | ClinVar dbSNP gnomAD v4 |
1 | g.43338642_43338645del | CA2573051579 | MPL | c.313_316del (p.Phe105ArgfsTer6) c.292_295del (p.Phe98ArgfsTer6) n.313_316del c.484_487del (p.Phe162ArgfsTer6) | ClinVar dbSNP |
1 | g.43338640T>A | CA339973606 | MPL | c.311T>A (p.Phe104Tyr) c.290T>A (p.Phe97Tyr) n.311T>A c.482T>A (p.Phe161Tyr) | |
1 | g.43338640T>C | CA339973608 | MPL | c.311T>C (p.Phe104Ser) c.290T>C (p.Phe97Ser) n.311T>C c.482T>C (p.Phe161Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.43338640T>G | CA339973610 | MPL | c.311T>G (p.Phe104Cys) c.290T>G (p.Phe97Cys) n.311T>G c.482T>G (p.Phe161Cys) | |
1 | g.43338640T= | CA1165576082 | MPL | c.311T= (p.Phe104=) c.290T= (p.Phe97=) n.311T= c.482T= (p.Phe161=) | |
1 | g.43338641C>A | CA339973612 | MPL | c.312C>A (p.Phe104Leu) c.291C>A (p.Phe97Leu) n.312C>A c.483C>A (p.Phe161Leu) | gnomAD v4 |
1 | g.43338641C>G | CA339973614 | MPL | c.312C>G (p.Phe104Leu) c.291C>G (p.Phe97Leu) n.312C>G c.483C>G (p.Phe161Leu) | |
1 | g.43338641C>T | CA417417461 | MPL | c.312C>T (p.Phe104=) c.291C>T (p.Phe97=) n.312C>T c.483C>T (p.Phe161=) | dbSNP COSMIC COSMIC |
1 | g.43338642T>A | CA339973616 | MPL | c.313T>A (p.Phe105Ile) c.292T>A (p.Phe98Ile) n.313T>A c.484T>A (p.Phe162Ile) | |
1 | g.43338642T>C | CA806634 | MPL | c.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 |
1 | g.43338642T>G | CA339973618 | MPL | c.313T>G (p.Phe105Val) c.292T>G (p.Phe98Val) n.313T>G c.484T>G (p.Phe162Val) | |
1 | g.43338642T= | CA1142046225 | MPL | c.313T= (p.Phe105=) c.292T= (p.Phe98=) n.313T= c.484T= (p.Phe162=) | |
1 | g.43338643T>A | CA339973620 | MPL | c.314T>A (p.Phe105Tyr) c.293T>A (p.Phe98Tyr) n.314T>A c.485T>A (p.Phe162Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43338643T>C | CA339973622 | MPL | c.314T>C (p.Phe105Ser) c.293T>C (p.Phe98Ser) n.314T>C c.485T>C (p.Phe162Ser) | |
1 | g.43338643T>G | CA339973624 | MPL | c.314T>G (p.Phe105Cys) c.293T>G (p.Phe98Cys) n.314T>G c.485T>G (p.Phe162Cys) | |
1 | g.43338643T= | CA1165576083 | MPL | c.314T= (p.Phe105=) c.293T= (p.Phe98=) n.314T= c.485T= (p.Phe162=) | |
1 | g.43338644T>A | CA339973626 | MPL | c.315T>A (p.Phe105Leu) c.294T>A (p.Phe98Leu) n.315T>A c.486T>A (p.Phe162Leu) | |
1 | g.43338644T>C | CA417417483 | MPL | c.315T>C (p.Phe105=) c.294T>C (p.Phe98=) n.315T>C c.486T>C (p.Phe162=) | ClinVar dbSNP |
1 | g.43338644T>G | CA339973628 | MPL | c.315T>G (p.Phe105Leu) c.294T>G (p.Phe98Leu) n.315T>G c.486T>G (p.Phe162Leu) | |
1 | g.43338645C>A | CA339973630 | MPL | c.316C>A (p.Pro106Thr) c.295C>A (p.Pro99Thr) n.316C>A c.487C>A (p.Pro163Thr) | |
1 | g.43338645C>G | CA339973632 | MPL | c.316C>G (p.Pro106Ala) c.295C>G (p.Pro99Ala) n.316C>G c.487C>G (p.Pro163Ala) | gnomAD v4 |
1 | g.43338645C>T | CA339973634 | MPL | c.316C>T (p.Pro106Ser) c.295C>T (p.Pro99Ser) n.316C>T c.487C>T (p.Pro163Ser) | |
1 | g.43338646C>A | CA339973636 | MPL | c.317C>A (p.Pro106Gln) c.296C>A (p.Pro99Gln) n.317C>A c.488C>A (p.Pro163Gln) | |
1 | g.43338646C= | CA1165576084 | MPL | c.317C= (p.Pro106=) c.296C= (p.Pro99=) n.317C= c.488C= (p.Pro163=) | |
1 | g.43338646C>G | CA806635 | MPL | c.317C>G (p.Pro106Arg) c.296C>G (p.Pro99Arg) n.317C>G c.488C>G (p.Pro163Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.43338646C>T | CA806636 | MPL | c.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 |
1 | g.43338647G>A | CA806637 | MPL | c.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 |
1 | g.43338647G>C | CA417417507 | MPL | c.318G>C (p.Pro106=) c.297G>C (p.Pro99=) n.318G>C c.489G>C (p.Pro163=) | |
1 | g.43338647G= | CA1143700880 | MPL | c.318G= (p.Pro106=) c.297G= (p.Pro99=) n.318G= c.489G= (p.Pro163=) | |
1 | g.43338647G>T | CA417417510 | MPL | c.318G>T (p.Pro106=) c.297G>T (p.Pro99=) n.318G>T c.489G>T (p.Pro163=) | |
1 | g.43338648C>A | CA339973641 | MPL | c.319C>A (p.Leu107Met) c.298C>A (p.Leu100Met) n.319C>A c.490C>A (p.Leu164Met) | dbSNP |
1 | g.43338648C>G | CA339973643 | MPL | c.319C>G (p.Leu107Val) c.298C>G (p.Leu100Val) n.319C>G c.490C>G (p.Leu164Val) | |
1 | g.43338648C>T | CA417417518 | MPL | c.319C>T (p.Leu107=) c.298C>T (p.Leu100=) n.319C>T c.490C>T (p.Leu164=) | dbSNP |
1 | g.43338649T>A | CA339973651 | MPL | c.320T>A (p.Leu107Gln) c.299T>A (p.Leu100Gln) n.320T>A c.491T>A (p.Leu164Gln) | |
1 | g.43338649T>C | CA339973648 | MPL | c.320T>C (p.Leu107Pro) c.299T>C (p.Leu100Pro) n.320T>C c.491T>C (p.Leu164Pro) | |
1 | g.43338649T>G | CA339973646 | MPL | c.320T>G (p.Leu107Arg) c.299T>G (p.Leu100Arg) n.320T>G c.491T>G (p.Leu164Arg) | |
1 | g.43338650G>A | CA417417534 | MPL | c.321G>A (p.Leu107=) c.300G>A (p.Leu100=) n.321G>A c.492G>A (p.Leu164=) | dbSNP |
1 | g.43338650G>C | CA417417537 | MPL | c.321G>C (p.Leu107=) c.300G>C (p.Leu100=) n.321G>C c.492G>C (p.Leu164=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43338650G= | CA1165576085 | MPL | c.321G= (p.Leu107=) c.300G= (p.Leu100=) n.321G= c.492G= (p.Leu164=) | |
1 | g.43338650G>T | CA417417540 | MPL | c.321G>T (p.Leu107=) c.300G>T (p.Leu100=) n.321G>T c.492G>T (p.Leu164=) | gnomAD v4 |
1 | g.43338651C>A | CA339973656 | MPL | c.322C>A (p.His108Asn) c.301C>A (p.His101Asn) n.322C>A c.493C>A (p.His165Asn) | |
1 | g.43338651C= | CA1165576086 | MPL | c.322C= (p.His108=) c.301C= (p.His101=) n.322C= c.493C= (p.His165=) | |
1 | g.43338651C>G | CA339973660 | MPL | c.322C>G (p.His108Asp) c.301C>G (p.His101Asp) n.322C>G c.493C>G (p.His165Asp) | |
1 | g.43338651C>T | CA339973663 | MPL | c.322C>T (p.His108Tyr) c.301C>T (p.His101Tyr) n.322C>T c.493C>T (p.His165Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43338652A>C | CA339973667 | MPL | c.323A>C (p.His108Pro) c.302A>C (p.His101Pro) n.323A>C c.494A>C (p.His165Pro) | |
1 | g.43338652A>G | CA339973669 | MPL | c.323A>G (p.His108Arg) c.302A>G (p.His101Arg) n.323A>G c.494A>G (p.His165Arg) | |
1 | g.43338652A>T | CA339973672 | MPL | c.323A>T (p.His108Leu) c.302A>T (p.His101Leu) n.323A>T c.494A>T (p.His165Leu) | |
1 | g.43338653C>A | CA339973675 | MPL | c.324C>A (p.His108Gln) c.303C>A (p.His101Gln) n.324C>A c.495C>A (p.His165Gln) | |
1 | g.43338653C= | CA1165576087 | MPL | c.324C= (p.His108=) c.303C= (p.His101=) n.324C= c.495C= (p.His165=) | |
1 | g.43338653C>G | CA339973678 | MPL | c.324C>G (p.His108Gln) c.303C>G (p.His101Gln) n.324C>G c.495C>G (p.His165Gln) | |
1 | g.43338653C>T | CA21607279 | MPL | c.324C>T (p.His108=) c.303C>T (p.His101=) n.324C>T c.495C>T (p.His165=) | dbSNP |
1 | g.43338654C>A | CA339973680 | MPL | c.325C>A (p.Leu109Ile) c.304C>A (p.Leu102Ile) n.325C>A c.496C>A (p.Leu166Ile) | |
1 | g.43338654C= | CA1143533040 | MPL | c.325C= (p.Leu109=) c.304C= (p.Leu102=) n.325C= c.496C= (p.Leu166=) | |
1 | g.43338654C>G | CA339973682 | MPL | c.325C>G (p.Leu109Val) c.304C>G (p.Leu102Val) n.325C>G c.496C>G (p.Leu166Val) | |
1 | g.43338654C>T | CA806638 | MPL | c.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 |
1 | g.43338655T>A | CA339973689 | MPL | c.326T>A (p.Leu109His) c.305T>A (p.Leu102His) n.326T>A c.497T>A (p.Leu166His) | COSMIC COSMIC |
1 | g.43338655T>C | CA339973691 | MPL | c.326T>C (p.Leu109Pro) c.305T>C (p.Leu102Pro) n.326T>C c.497T>C (p.Leu166Pro) | |
1 | g.43338655T>G | CA339973693 | MPL | c.326T>G (p.Leu109Arg) c.305T>G (p.Leu102Arg) n.326T>G c.497T>G (p.Leu166Arg) | |
1 | g.43338656C>A | CA417417574 | MPL | c.327C>A (p.Leu109=) c.306C>A (p.Leu102=) n.327C>A c.498C>A (p.Leu166=) | |
1 | g.43338656C= | CA1165576088 | MPL | c.327C= (p.Leu109=) c.306C= (p.Leu102=) n.327C= c.498C= (p.Leu166=) | |
1 | g.43338656C>G | CA21607284 | MPL | c.327C>G (p.Leu109=) c.306C>G (p.Leu102=) n.327C>G c.498C>G (p.Leu166=) | dbSNP gnomAD v4 |
1 | g.43338656C>T | CA417417577 | MPL | c.327C>T (p.Leu109=) c.306C>T (p.Leu102=) n.327C>T c.498C>T (p.Leu166=) | |
1 | g.43338657T>A | CA339973705 | MPL | c.328T>A (p.Trp110Arg) c.307T>A (p.Trp103Arg) n.328T>A c.499T>A (p.Trp167Arg) | |
1 | g.43338657T>C | CA339973702 | MPL | c.328T>C (p.Trp110Arg) c.307T>C (p.Trp103Arg) n.328T>C c.499T>C (p.Trp167Arg) | dbSNP gnomAD v4 |
1 | g.43338657T>G | CA339973699 | MPL | c.328T>G (p.Trp110Gly) c.307T>G (p.Trp103Gly) n.328T>G c.499T>G (p.Trp167Gly) | |
1 | g.43338657T= | CA1165576089 | MPL | c.328T= (p.Trp110=) c.307T= (p.Trp103=) n.328T= c.499T= (p.Trp167=) | |
1 | g.43338658G>A | CA339973709 | MPL | c.329G>A (p.Trp110Ter) c.308G>A (p.Trp103Ter) n.329G>A c.500G>A (p.Trp167Ter) | dbSNP gnomAD v4 |
1 | g.43338658G>C | CA339973713 | MPL | c.329G>C (p.Trp110Ser) c.308G>C (p.Trp103Ser) n.329G>C c.500G>C (p.Trp167Ser) | |
1 | g.43338658G= | CA1165576090 | MPL | c.329G= (p.Trp110=) c.308G= (p.Trp103=) n.329G= c.500G= (p.Trp167=) | |
1 | g.43338658G>T | CA339973716 | MPL | c.329G>T (p.Trp110Leu) c.308G>T (p.Trp103Leu) n.329G>T c.500G>T (p.Trp167Leu) | dbSNP |
1 | g.43338659G>A | CA339973720 | MPL | c.330G>A (p.Trp110Ter) c.309G>A (p.Trp103Ter) n.330G>A c.501G>A (p.Trp167Ter) | |
1 | g.43338659G>C | CA339973723 | MPL | c.330G>C (p.Trp110Cys) c.309G>C (p.Trp103Cys) n.330G>C c.501G>C (p.Trp167Cys) | |
1 | g.43338659G>T | CA339973726 | MPL | c.330G>T (p.Trp110Cys) c.309G>T (p.Trp103Cys) n.330G>T c.501G>T (p.Trp167Cys) | |
1 | g.43338660G>A | CA339973736 | MPL | c.331G>A (p.Val111Met) c.310G>A (p.Val104Met) n.331G>A c.502G>A (p.Val168Met) | |
1 | g.43338660G>C | CA339973733 | MPL | c.331G>C (p.Val111Leu) c.310G>C (p.Val104Leu) n.331G>C c.502G>C (p.Val168Leu) | gnomAD v4 |
1 | g.43338660G>T | CA339973730 | MPL | c.331G>T (p.Val111Leu) c.310G>T (p.Val104Leu) n.331G>T c.502G>T (p.Val168Leu) | |
1 | g.43338661T>A | CA339973738 | MPL | c.332T>A (p.Val111Glu) c.311T>A (p.Val104Glu) n.332T>A c.503T>A (p.Val168Glu) | |
1 | g.43338661T>C | CA339973740 | MPL | c.332T>C (p.Val111Ala) c.311T>C (p.Val104Ala) n.332T>C c.503T>C (p.Val168Ala) | |
1 | g.43338661T>G | CA339973744 | MPL | c.332T>G (p.Val111Gly) c.311T>G (p.Val104Gly) n.332T>G c.503T>G (p.Val168Gly) | |
1 | g.43338662G>A | CA417417612 | MPL | c.333G>A (p.Val111=) c.312G>A (p.Val104=) n.333G>A c.504G>A (p.Val168=) | ClinVar dbSNP gnomAD v4 |
1 | g.43338662G>C | CA417417613 | MPL | c.333G>C (p.Val111=) c.312G>C (p.Val104=) n.333G>C c.504G>C (p.Val168=) | |
1 | g.43338662G= | CA1165576091 | MPL | c.333G= (p.Val111=) c.312G= (p.Val104=) n.333G= c.504G= (p.Val168=) | |
1 | g.43338662G>T | CA417417614 | MPL | c.333G>T (p.Val111=) c.312G>T (p.Val104=) n.333G>T c.504G>T (p.Val168=) | |
1 | g.43338665_43338667del | CA2522362218 | MPL | c.336_338del (p.Lys112del) c.315_317del (p.Lys105del) n.336_338del c.507_509del (p.Lys169del) | gnomAD v4 |
1 | g.43338663A>C | CA339973747 | MPL | c.334A>C (p.Lys112Gln) c.313A>C (p.Lys105Gln) n.334A>C c.505A>C (p.Lys169Gln) | |
1 | g.43338663A>G | CA339973749 | MPL | c.334A>G (p.Lys112Glu) c.313A>G (p.Lys105Glu) n.334A>G c.505A>G (p.Lys169Glu) | |
1 | g.43338663A>T | CA339973753 | MPL | c.334A>T (p.Lys112Ter) c.313A>T (p.Lys105Ter) n.334A>T c.505A>T (p.Lys169Ter) | |
1 | g.43338664A>C | CA339973759 | MPL | c.335A>C (p.Lys112Thr) c.314A>C (p.Lys105Thr) n.335A>C c.506A>C (p.Lys169Thr) | |
1 | g.43338664A>G | CA339973764 | MPL | c.335A>G (p.Lys112Arg) c.314A>G (p.Lys105Arg) n.335A>G c.506A>G (p.Lys169Arg) | |
1 | g.43338664A>T | CA339973762 | MPL | c.335A>T (p.Lys112Met) c.314A>T (p.Lys105Met) n.335A>T c.506A>T (p.Lys169Met) | |
1 | g.43338665G>A | CA417417630 | MPL | c.336G>A (p.Lys112=) c.315G>A (p.Lys105=) n.336G>A c.507G>A (p.Lys169=) | |
1 | g.43338665G>C | CA339973769 | MPL | c.336G>C (p.Lys112Asn) c.315G>C (p.Lys105Asn) n.336G>C c.507G>C (p.Lys169Asn) | |
1 | g.43338665G>T | CA339973771 | MPL | c.336G>T (p.Lys112Asn) c.315G>T (p.Lys105Asn) n.336G>T c.507G>T (p.Lys169Asn) | |
1 | g.43338666A= | CA1165576092 | MPL | c.337A= (p.Asn113=) c.316A= (p.Asn106=) n.337A= c.508A= (p.Asn170=) | |
1 | g.43338666A>C | CA339973775 | MPL | c.337A>C (p.Asn113His) c.316A>C (p.Asn106His) n.337A>C c.508A>C (p.Asn170His) | |
1 | g.43338666A>G | CA339973778 | MPL | c.337A>G (p.Asn113Asp) c.316A>G (p.Asn106Asp) n.337A>G c.508A>G (p.Asn170Asp) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.43338666A>T | CA339973781 | MPL | c.337A>T (p.Asn113Tyr) c.316A>T (p.Asn106Tyr) n.337A>T c.508A>T (p.Asn170Tyr) | |
1 | g.43338667A= | CA1165576093 | MPL | c.338A= (p.Asn113=) c.317A= (p.Asn106=) n.338A= c.509A= (p.Asn170=) | |
1 | g.43338667A>C | CA339973785 | MPL | c.338A>C (p.Asn113Thr) c.317A>C (p.Asn106Thr) n.338A>C c.509A>C (p.Asn170Thr) | |
1 | g.43338667A>G | CA339973788 | MPL | c.338A>G (p.Asn113Ser) c.317A>G (p.Asn106Ser) n.338A>G c.509A>G (p.Asn170Ser) | gnomAD v4 |
1 | g.43338667A>T | CA339973791 | MPL | c.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 |
1 | g.43338668T>A | CA339973793 | MPL | c.339T>A (p.Asn113Lys) c.318T>A (p.Asn106Lys) n.339T>A c.510T>A (p.Asn170Lys) | |
1 | g.43338668T>C | CA21607288 | MPL | c.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 |
1 | g.43338668T>G | CA339973797 | MPL | c.339T>G (p.Asn113Lys) c.318T>G (p.Asn106Lys) n.339T>G c.510T>G (p.Asn170Lys) | |
1 | g.43338668T= | CA1141867571 | MPL | c.339T= (p.Asn113=) c.318T= (p.Asn106=) n.339T= c.510T= (p.Asn170=) | |
1 | g.43338669G>A | CA160821 | MPL | c.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 |
1 | g.43338669G>C | CA339973807 | MPL | c.340G>C (p.Val114Leu) c.319G>C (p.Val107Leu) n.340G>C c.511G>C (p.Val171Leu) | dbSNP |
1 | g.43338669G= | CA1140414686 | MPL | c.340G= (p.Val114=) c.319G= (p.Val107=) n.340G= c.511G= (p.Val171=) | |
1 | g.43338669G>T | CA339973804 | MPL | c.340G>T (p.Val114Leu) c.319G>T (p.Val107Leu) n.340G>T c.511G>T (p.Val171Leu) | |
1 | g.43338670T>A | CA339973811 | MPL | c.341T>A (p.Val114Glu) c.320T>A (p.Val107Glu) n.341T>A c.512T>A (p.Val171Glu) | |
1 | g.43338670T>C | CA339973815 | MPL | c.341T>C (p.Val114Ala) c.320T>C (p.Val107Ala) n.341T>C c.512T>C (p.Val171Ala) | |
1 | g.43338670T>G | CA339973813 | MPL | c.341T>G (p.Val114Gly) c.320T>G (p.Val107Gly) n.341T>G c.512T>G (p.Val171Gly) | |
1 | g.43338671G>A | CA417417684 | MPL | c.342G>A (p.Val114=) c.321G>A (p.Val107=) n.342G>A c.513G>A (p.Val171=) | dbSNP |
1 | g.43338671G>C | CA417417686 | MPL | c.342G>C (p.Val114=) c.321G>C (p.Val107=) n.342G>C c.513G>C (p.Val171=) | |
1 | g.43338671G>T | CA417417689 | MPL | c.342G>T (p.Val114=) c.321G>T (p.Val107=) n.342G>T c.513G>T (p.Val171=) | |
1 | g.43338672T>A | CA339973819 | MPL | c.343T>A (p.Phe115Ile) c.322T>A (p.Phe108Ile) n.343T>A c.514T>A (p.Phe172Ile) | |
1 | g.43338672T>C | CA339973822 | MPL | c.343T>C (p.Phe115Leu) c.322T>C (p.Phe108Leu) n.343T>C c.514T>C (p.Phe172Leu) | |
1 | g.43338672T>G | CA339973825 | MPL | c.343T>G (p.Phe115Val) c.322T>G (p.Phe108Val) n.343T>G c.514T>G (p.Phe172Val) | |
1 | g.43338673T>A | CA339973829 | MPL | c.344T>A (p.Phe115Tyr) c.323T>A (p.Phe108Tyr) n.344T>A c.515T>A (p.Phe172Tyr) | |
1 | g.43338673T>C | CA339973832 | MPL | c.344T>C (p.Phe115Ser) c.323T>C (p.Phe108Ser) n.344T>C c.515T>C (p.Phe172Ser) | |
1 | g.43338673T>G | CA339973834 | MPL | c.344T>G (p.Phe115Cys) c.323T>G (p.Phe108Cys) n.344T>G c.515T>G (p.Phe172Cys) | |
1 | g.43338674C>A | CA339973837 | MPL | c.345C>A (p.Phe115Leu) c.324C>A (p.Phe108Leu) n.345C>A c.516C>A (p.Phe172Leu) | |
1 | g.43338674C>G | CA339973840 | MPL | c.345C>G (p.Phe115Leu) c.324C>G (p.Phe108Leu) n.345C>G c.516C>G (p.Phe172Leu) | dbSNP |
1 | g.43338674C>T | CA417417713 | MPL | c.345C>T (p.Phe115=) c.324C>T (p.Phe108=) n.345C>T c.516C>T (p.Phe172=) | |
1 | g.43338675C>A | CA339973843 | MPL | c.346C>A (p.Leu116Ile) c.325C>A (p.Leu109Ile) n.346C>A c.517C>A (p.Leu173Ile) | |
1 | g.43338675C>G | CA339973846 | MPL | c.346C>G (p.Leu116Val) c.325C>G (p.Leu109Val) n.346C>G c.517C>G (p.Leu173Val) | gnomAD v4 |
1 | g.43338675C>T | CA417417719 | MPL | c.346C>T (p.Leu116=) c.325C>T (p.Leu109=) n.346C>T c.517C>T (p.Leu173=) | |
1 | g.43338676T>A | CA339973850 | MPL | c.347T>A (p.Leu116Gln) c.326T>A (p.Leu109Gln) n.347T>A c.518T>A (p.Leu173Gln) | |
1 | g.43338676T>C | CA339973853 | MPL | c.347T>C (p.Leu116Pro) c.326T>C (p.Leu109Pro) n.347T>C c.518T>C (p.Leu173Pro) | |
1 | g.43338676T>G | CA339973856 | MPL | c.347T>G (p.Leu116Arg) c.326T>G (p.Leu109Arg) n.347T>G c.518T>G (p.Leu173Arg) | gnomAD v4 |
1 | g.43338677A>C | CA417417731 | MPL | c.348A>C (p.Leu116=) c.327A>C (p.Leu109=) n.348A>C c.519A>C (p.Leu173=) | |
1 | g.43338677A>G | CA417417733 | MPL | c.348A>G (p.Leu116=) c.327A>G (p.Leu109=) n.348A>G c.519A>G (p.Leu173=) | |
1 | g.43338677A>T | CA417417737 | MPL | c.348A>T (p.Leu116=) c.327A>T (p.Leu109=) n.348A>T c.519A>T (p.Leu173=) | |
1 | g.43338678A>C | CA339973858 | MPL | c.349A>C (p.Asn117His) c.328A>C (p.Asn110His) n.349A>C c.520A>C (p.Asn174His) | |
1 | g.43338678A>G | CA339973863 | MPL | c.349A>G (p.Asn117Asp) c.328A>G (p.Asn110Asp) n.349A>G c.520A>G (p.Asn174Asp) | |
1 | g.43338678A>T | CA339973860 | MPL | c.349A>T (p.Asn117Tyr) c.328A>T (p.Asn110Tyr) n.349A>T c.520A>T (p.Asn174Tyr) | |
1 | g.43338679A>C | CA339973867 | MPL | c.350A>C (p.Asn117Thr) c.329A>C (p.Asn110Thr) n.350A>C c.521A>C (p.Asn174Thr) | |
1 | g.43338679A>G | CA339973868 | MPL | c.350A>G (p.Asn117Ser) c.329A>G (p.Asn110Ser) n.350A>G c.521A>G (p.Asn174Ser) | |
1 | g.43338679A>T | CA339973873 | MPL | c.350A>T (p.Asn117Ile) c.329A>T (p.Asn110Ile) n.350A>T c.521A>T (p.Asn174Ile) | |
1 | g.43338680C>A | CA339973875 | MPL | c.351C>A (p.Asn117Lys) c.330C>A (p.Asn110Lys) n.351C>A c.522C>A (p.Asn174Lys) | |
1 | g.43338680C>G | CA339973877 | MPL | c.351C>G (p.Asn117Lys) c.330C>G (p.Asn110Lys) n.351C>G c.522C>G (p.Asn174Lys) | |
1 | g.43338680C>T | CA417417759 | MPL | c.351C>T (p.Asn117=) c.330C>T (p.Asn110=) n.351C>T c.522C>T (p.Asn174=) | gnomAD v4 |
1 | g.43338680_43338681insTGTCTCTTATA | CA2580062794 | MPL | c.351_352insTGTCTCTTATA (p.Gln118CysfsTer17) c.330_331insTGTCTCTTATA (p.Gln111CysfsTer17) n.351_352insTGTCTCTTATA c.522_523insTGTCTCTTATA (p.Gln175CysfsTer17) | ClinVar |
1 | g.43338681C>A | CA339973879 | MPL | c.352C>A (p.Gln118Lys) c.331C>A (p.Gln111Lys) n.352C>A c.523C>A (p.Gln175Lys) | |
1 | g.43338681C= | CA1165576094 | MPL | c.352C= (p.Gln118=) c.331C= (p.Gln111=) n.352C= c.523C= (p.Gln175=) | |
1 | g.43338681C>G | CA339973883 | MPL | c.352C>G (p.Gln118Glu) c.331C>G (p.Gln111Glu) n.352C>G c.523C>G (p.Gln175Glu) | dbSNP |
1 | g.43338681C>T | CA339973887 | MPL | c.352C>T (p.Gln118Ter) c.331C>T (p.Gln111Ter) n.352C>T c.523C>T (p.Gln175Ter) | |
1 | g.43338682A>C | CA339973892 | MPL | c.353A>C (p.Gln118Pro) c.332A>C (p.Gln111Pro) n.353A>C c.524A>C (p.Gln175Pro) | |
1 | g.43338682A>G | CA339973893 | MPL | c.353A>G (p.Gln118Arg) c.332A>G (p.Gln111Arg) n.353A>G c.524A>G (p.Gln175Arg) | |
1 | g.43338682A>T | CA339973894 | MPL | c.353A>T (p.Gln118Leu) c.332A>T (p.Gln111Leu) n.353A>T c.524A>T (p.Gln175Leu) | |
1 | g.43338683G>A | CA417417778 | MPL | c.354G>A (p.Gln118=) c.333G>A (p.Gln111=) n.354G>A c.525G>A (p.Gln175=) | |
1 | g.43338683G>C | CA806639 | MPL | c.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 |
1 | g.43338683G= | CA1165576095 | MPL | c.354G= (p.Gln118=) c.333G= (p.Gln111=) n.354G= c.525G= (p.Gln175=) | |
1 | g.43338683G>T | CA339973895 | MPL | c.354G>T (p.Gln118His) c.333G>T (p.Gln111His) n.354G>T c.525G>T (p.Gln175His) | gnomAD v4 |
1 | g.43338684A>C | CA339973897 | MPL | c.355A>C (p.Thr119Pro) c.334A>C (p.Thr112Pro) n.355A>C c.526A>C (p.Thr176Pro) | |
1 | g.43338684A>G | CA339973899 | MPL | c.355A>G (p.Thr119Ala) c.334A>G (p.Thr112Ala) n.355A>G c.526A>G (p.Thr176Ala) | |
1 | g.43338684A>T | CA339973901 | MPL | c.355A>T (p.Thr119Ser) c.334A>T (p.Thr112Ser) n.355A>T c.526A>T (p.Thr176Ser) | |
1 | g.43338685C>A | CA339973905 | MPL | c.356C>A (p.Thr119Asn) c.335C>A (p.Thr112Asn) n.356C>A c.527C>A (p.Thr176Asn) | |
1 | g.43338685C>G | CA339973908 | MPL | c.356C>G (p.Thr119Ser) c.335C>G (p.Thr112Ser) n.356C>G c.527C>G (p.Thr176Ser) | |
1 | g.43338685C>T | CA339973910 | MPL | c.356C>T (p.Thr119Ile) c.335C>T (p.Thr112Ile) n.356C>T c.527C>T (p.Thr176Ile) | gnomAD v4 COSMIC |
1 | g.43338686T>A | CA417417795 | MPL | c.357T>A (p.Thr119=) c.336T>A (p.Thr112=) n.357T>A c.528T>A (p.Thr176=) | dbSNP |
1 | g.43338686T>C | CA417417799 | MPL | c.357T>C (p.Thr119=) c.336T>C (p.Thr112=) n.357T>C c.528T>C (p.Thr176=) | |
1 | g.43338686T>G | CA417417814 | MPL | c.357T>G (p.Thr119=) c.336T>G (p.Thr112=) n.357T>G c.528T>G (p.Thr176=) | |
1 | g.43338687C>A | CA417417818 | MPL | c.358C>A (p.Arg120=) c.337C>A (p.Arg113=) n.358C>A c.529C>A (p.Arg177=) | |
1 | g.43338687C= | CA1165576096 | MPL | c.358C= (p.Arg120=) c.337C= (p.Arg113=) n.358C= c.529C= (p.Arg177=) | |
1 | g.43338687C>G | CA339973918 | MPL | c.358C>G (p.Arg120Gly) c.337C>G (p.Arg113Gly) n.358C>G c.529C>G (p.Arg177Gly) | gnomAD v4 |
1 | g.43338687C>T | CA339973913 | MPL | c.358C>T (p.Arg120Trp) c.337C>T (p.Arg113Trp) n.358C>T c.529C>T (p.Arg177Trp) | ClinVar dbSNP gnomAD v4 |
1 | g.43338688G>A | CA806640 | MPL | c.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 |
1 | g.43338688G>C | CA339973925 | MPL | c.359G>C (p.Arg120Pro) c.338G>C (p.Arg113Pro) n.359G>C c.530G>C (p.Arg177Pro) | |
1 | g.43338688G= | CA1149113696 | MPL | c.359G= (p.Arg120=) c.338G= (p.Arg113=) n.359G= c.530G= (p.Arg177=) | |
1 | g.43338688G>T | CA339973927 | MPL | c.359G>T (p.Arg120Leu) c.338G>T (p.Arg113Leu) n.359G>T c.530G>T (p.Arg177Leu) | |
1 | g.43338689G>A | CA417417825 | MPL | c.360G>A (p.Arg120=) c.339G>A (p.Arg113=) n.360G>A c.531G>A (p.Arg177=) | |
1 | g.43338689G>C | CA417417826 | MPL | c.360G>C (p.Arg120=) c.339G>C (p.Arg113=) n.360G>C c.531G>C (p.Arg177=) | dbSNP |
1 | g.43338689G>T | CA417417828 | MPL | c.360G>T (p.Arg120=) c.339G>T (p.Arg113=) n.360G>T c.531G>T (p.Arg177=) | |
1 | g.43338690A= | CA1165576097 | MPL | c.361A= (p.Thr121=) c.340A= (p.Thr114=) n.361A= c.532A= (p.Thr178=) | |
1 | g.43338690A>C | CA339973930 | MPL | c.361A>C (p.Thr121Pro) c.340A>C (p.Thr114Pro) n.361A>C c.532A>C (p.Thr178Pro) | |
1 | g.43338690A>G | CA339973933 | MPL | c.361A>G (p.Thr121Ala) c.340A>G (p.Thr114Ala) n.361A>G c.532A>G (p.Thr178Ala) | dbSNP |
1 | g.43338690A>T | CA339973936 | MPL | c.361A>T (p.Thr121Ser) c.340A>T (p.Thr114Ser) n.361A>T c.532A>T (p.Thr178Ser) | |
1 | g.43338691C>A | CA339973940 | MPL | c.362C>A (p.Thr121Asn) c.341C>A (p.Thr114Asn) n.362C>A c.533C>A (p.Thr178Asn) | |
1 | g.43338691C>G | CA339973945 | MPL | c.362C>G (p.Thr121Ser) c.341C>G (p.Thr114Ser) n.362C>G c.533C>G (p.Thr178Ser) | |
1 | g.43338691C>T | CA339973942 | MPL | c.362C>T (p.Thr121Ile) c.341C>T (p.Thr114Ile) n.362C>T c.533C>T (p.Thr178Ile) | |
1 | g.43338692T>A | CA417417851 | MPL | c.363T>A (p.Thr121=) c.342T>A (p.Thr114=) n.363T>A c.534T>A (p.Thr178=) | dbSNP |
1 | g.43338692T>C | CA417417853 | MPL | c.363T>C (p.Thr121=) c.342T>C (p.Thr114=) n.363T>C c.534T>C (p.Thr178=) | |
1 | g.43338692T>G | CA417417856 | MPL | c.363T>G (p.Thr121=) c.342T>G (p.Thr114=) n.363T>G c.534T>G (p.Thr178=) | |
1 | g.43338693C>A | CA339973957 | MPL | c.364C>A (p.Gln122Lys) c.343C>A (p.Gln115Lys) n.364C>A c.535C>A (p.Gln179Lys) | |
1 | g.43338693C>G | CA339973960 | MPL | c.364C>G (p.Gln122Glu) c.343C>G (p.Gln115Glu) n.364C>G c.535C>G (p.Gln179Glu) | dbSNP |
1 | g.43338693C>T | CA339973963 | MPL | c.364C>T (p.Gln122Ter) c.343C>T (p.Gln115Ter) n.364C>T c.535C>T (p.Gln179Ter) | |
1 | g.43338694A>C | CA339973967 | MPL | c.365A>C (p.Gln122Pro) c.344A>C (p.Gln115Pro) n.365A>C c.536A>C (p.Gln179Pro) | |
1 | g.43338694A>G | CA339973968 | MPL | c.365A>G (p.Gln122Arg) c.344A>G (p.Gln115Arg) n.365A>G c.536A>G (p.Gln179Arg) | |
1 | g.43338694A>T | CA339973969 | MPL | c.365A>T (p.Gln122Leu) c.344A>T (p.Gln115Leu) n.365A>T c.536A>T (p.Gln179Leu) | |
1 | g.43338694_43338695delinsT | CA2580062796 | MPL | c.365_366delinsT (p.Gln122LeufsTer9) c.344_345delinsT (p.Gln115LeufsTer9) n.365_366delinsT c.536_537delinsT (p.Gln179LeufsTer9) | ClinVar |
1 | g.43338695G>A | CA417417880 | MPL | c.366G>A (p.Gln122=) c.345G>A (p.Gln115=) n.366G>A c.537G>A (p.Gln179=) | ClinVar dbSNP COSMIC |
1 | g.43338695G>C | CA339973970 | MPL | c.366G>C (p.Gln122His) c.345G>C (p.Gln115His) n.366G>C c.537G>C (p.Gln179His) | |
1 | g.43338695G>T | CA339973973 | MPL | c.366G>T (p.Gln122His) c.345G>T (p.Gln115His) n.366G>T c.537G>T (p.Gln179His) | gnomAD v4 |
1 | g.43338696C>A | CA417417887 | MPL | c.367C>A (p.Arg123=) c.346C>A (p.Arg116=) n.367C>A c.538C>A (p.Arg180=) | ClinVar dbSNP gnomAD v4 |
1 | g.43338696C= | CA1165576098 | MPL | c.367C= (p.Arg123=) c.346C= (p.Arg116=) n.367C= c.538C= (p.Arg180=) | |
1 | g.43338696C>G | CA339973976 | MPL | c.367C>G (p.Arg123Gly) c.346C>G (p.Arg116Gly) n.367C>G c.538C>G (p.Arg180Gly) | gnomAD v4 |
1 | g.43338696C>T | CA339973978 | MPL | c.367C>T (p.Arg123Ter) c.346C>T (p.Arg116Ter) n.367C>T c.538C>T (p.Arg180Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.43338697G>A | CA806641 | MPL | c.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 |
1 | g.43338697G>C | CA339973985 | MPL | c.368G>C (p.Arg123Pro) c.347G>C (p.Arg116Pro) n.368G>C c.539G>C (p.Arg180Pro) | |
1 | g.43338697G= | CA1165576099 | MPL | c.368G= (p.Arg123=) c.347G= (p.Arg116=) n.368G= c.539G= (p.Arg180=) | |
1 | g.43338697G>T | CA339973983 | MPL | c.368G>T (p.Arg123Leu) c.347G>T (p.Arg116Leu) n.368G>T c.539G>T (p.Arg180Leu) | dbSNP |
1 | g.43338698A>C | CA417417900 | MPL | c.369A>C (p.Arg123=) c.348A>C (p.Arg116=) n.369A>C c.540A>C (p.Arg180=) | |
1 | g.43338698A>G | CA417417902 | MPL | c.369A>G (p.Arg123=) c.348A>G (p.Arg116=) n.369A>G c.540A>G (p.Arg180=) | |
1 | g.43338698A>T | CA417417905 | MPL | c.369A>T (p.Arg123=) c.348A>T (p.Arg116=) n.369A>T c.540A>T (p.Arg180=) | dbSNP |
1 | g.43338699G>A | CA339973988 | MPL | c.370G>A (p.Val124Ile) c.349G>A (p.Val117Ile) n.370G>A c.541G>A (p.Val181Ile) | |
1 | g.43338699G>C | CA806642 | MPL | c.370G>C (p.Val124Leu) c.349G>C (p.Val117Leu) n.370G>C c.541G>C (p.Val181Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.43338699G= | CA1165576100 | MPL | c.370G= (p.Val124=) c.349G= (p.Val117=) n.370G= c.541G= (p.Val181=) | |
1 | g.43338699G>T | CA339973991 | MPL | c.370G>T (p.Val124Phe) c.349G>T (p.Val117Phe) n.370G>T c.541G>T (p.Val181Phe) | |
1 | g.43338700T>A | CA339973995 | MPL | c.371T>A (p.Val124Asp) c.350T>A (p.Val117Asp) n.371T>A c.542T>A (p.Val181Asp) | |
1 | g.43338700T>C | CA339973997 | MPL | c.371T>C (p.Val124Ala) c.350T>C (p.Val117Ala) n.371T>C c.542T>C (p.Val181Ala) | |
1 | g.43338700T>G | CA339973999 | MPL | c.371T>G (p.Val124Gly) c.350T>G (p.Val117Gly) n.371T>G c.542T>G (p.Val181Gly) | |
1 | g.43338701C>A | CA417417922 | MPL | c.372C>A (p.Val124=) c.351C>A (p.Val117=) n.372C>A c.543C>A (p.Val181=) | gnomAD v4 |
1 | g.43338701C>G | CA417417923 | MPL | c.372C>G (p.Val124=) c.351C>G (p.Val117=) n.372C>G c.543C>G (p.Val181=) | |
1 | g.43338701C>T | CA417417924 | MPL | c.372C>T (p.Val124=) c.351C>T (p.Val117=) n.372C>T c.543C>T (p.Val181=) | |
1 | g.43338702C>A | CA339974002 | MPL | c.373C>A (p.Leu125Ile) c.352C>A (p.Leu118Ile) n.373C>A c.544C>A (p.Leu182Ile) | |
1 | g.43338702C>G | CA339974003 | MPL | c.373C>G (p.Leu125Val) c.352C>G (p.Leu118Val) n.373C>G c.544C>G (p.Leu182Val) | |
1 | g.43338702C>T | CA339974005 | MPL | c.373C>T (p.Leu125Phe) c.352C>T (p.Leu118Phe) n.373C>T c.544C>T (p.Leu182Phe) | |
1 | g.43338702_43338703delinsCT | CA1165576101 | MPL | c.373_374delinsCT (p.Leu125=) c.352_353delinsCT (p.Leu118=) n.373_374delinsCT c.544_545delinsCT (p.Leu182=) | |
1 | g.43338703del | CA916162774 | MPL | c.374del (p.Leu125ProfsTer6) c.353del (p.Leu118ProfsTer6) n.374del c.545del (p.Leu182ProfsTer6) | dbSNP |
1 | g.43338703T>A | CA339974014 | MPL | c.374T>A (p.Leu125His) c.353T>A (p.Leu118His) n.374T>A c.545T>A (p.Leu182His) | |
1 | g.43338703T>C | CA806643 | MPL | c.374T>C (p.Leu125Pro) c.353T>C (p.Leu118Pro) n.374T>C c.545T>C (p.Leu182Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.43338703T>G | CA339974012 | MPL | c.374T>G (p.Leu125Arg) c.353T>G (p.Leu118Arg) n.374T>G c.545T>G (p.Leu182Arg) | |
1 | g.43338703T= | CA1165576102 | MPL | c.374T= (p.Leu125=) c.353T= (p.Leu118=) n.374T= c.545T= (p.Leu182=) | |
1 | g.43338704C>A | CA417417942 | MPL | c.375C>A (p.Leu125=) c.354C>A (p.Leu118=) n.375C>A c.546C>A (p.Leu182=) | |
1 | g.43338704C>G | CA417417944 | MPL | c.375C>G (p.Leu125=) c.354C>G (p.Leu118=) n.375C>G c.546C>G (p.Leu182=) | dbSNP |
1 | g.43338704C>T | CA417417947 | MPL | c.375C>T (p.Leu125=) c.354C>T (p.Leu118=) n.375C>T c.546C>T (p.Leu182=) | |
1 | g.43338704_43338705delinsCT | CA1165576103 | MPL | c.375_376delinsCT (p.Leu125=) c.354_355delinsCT (p.Leu118=) n.375_376delinsCT c.546_547delinsCT (p.Leu182=) | |
1 | g.43338705T>A | CA339974024 | MPL | c.376T>A (p.Phe126Ile) c.355T>A (p.Phe119Ile) n.376T>A c.547T>A (p.Phe183Ile) | |
1 | g.43338705T>C | CA339974028 | MPL | c.376T>C (p.Phe126Leu) c.355T>C (p.Phe119Leu) n.376T>C c.547T>C (p.Phe183Leu) | |
1 | g.43338705T>G | CA339974031 | MPL | c.376T>G (p.Phe126Val) c.355T>G (p.Phe119Val) n.376T>G c.547T>G (p.Phe183Val) | |
1 | g.43338705_43338707delinsTTT | CA1148224238 | MPL | c.376_378delinsTTT (p.Phe126=) c.355_357delinsTTT (p.Phe119=) n.376_378delinsTTT c.547_549delinsTTT (p.Phe183=) | |
1 | g.43338707dup | CA1165576104 | MPL | c.378dup (p.Val127CysfsTer?) c.357dup (p.Val120CysfsTer?) n.378dup c.549dup (p.Val184CysfsTer?) | dbSNP |
1 | g.43338707del | CA160817 | MPL | c.378del (p.Phe126LeufsTer5) c.357del (p.Phe119LeufsTer5) n.378del c.549del (p.Phe183LeufsTer5) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43338706T>A | CA339974040 | MPL | c.377T>A (p.Phe126Tyr) c.356T>A (p.Phe119Tyr) n.377T>A c.548T>A (p.Phe183Tyr) | |
1 | g.43338706T>C | CA339974038 | MPL | c.377T>C (p.Phe126Ser) c.356T>C (p.Phe119Ser) n.377T>C c.548T>C (p.Phe183Ser) | |
1 | g.43338706T>G | CA339974036 | MPL | c.377T>G (p.Phe126Cys) c.356T>G (p.Phe119Cys) n.377T>G c.548T>G (p.Phe183Cys) | |
1 | g.43338707T>A | CA339974044 | MPL | c.378T>A (p.Phe126Leu) c.357T>A (p.Phe119Leu) n.378T>A c.549T>A (p.Phe183Leu) | |
1 | g.43338707T>C | CA417417977 | MPL | c.378T>C (p.Phe126=) c.357T>C (p.Phe119=) n.378T>C c.549T>C (p.Phe183=) | |
1 | g.43338707T>G | CA339974046 | MPL | c.378T>G (p.Phe126Leu) c.357T>G (p.Phe119Leu) n.378T>G c.549T>G (p.Phe183Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.43338707T= | CA1165576105 | MPL | c.378T= (p.Phe126=) c.357T= (p.Phe119=) n.378T= c.549T= (p.Phe183=) | |
1 | g.43338708G>A | CA339974050 | MPL | c.379G>A (p.Val127Met) c.358G>A (p.Val120Met) n.379G>A c.550G>A (p.Val184Met) | |
1 | g.43338708G>C | CA339974053 | MPL | c.379G>C (p.Val127Leu) c.358G>C (p.Val120Leu) n.379G>C c.550G>C (p.Val184Leu) | |
1 | g.43338708G>T | CA339974056 | MPL | c.379G>T (p.Val127Leu) c.358G>T (p.Val120Leu) n.379G>T c.550G>T (p.Val184Leu) | |
1 | g.43338709T>A | CA339974059 | MPL | c.380T>A (p.Val127Glu) c.359T>A (p.Val120Glu) n.380T>A c.551T>A (p.Val184Glu) | |
1 | g.43338709T>C | CA339974062 | MPL | c.380T>C (p.Val127Ala) c.359T>C (p.Val120Ala) n.380T>C c.551T>C (p.Val184Ala) | |
1 | g.43338709T>G | CA339974064 | MPL | c.380T>G (p.Val127Gly) c.359T>G (p.Val120Gly) n.380T>G c.551T>G (p.Val184Gly) | |
1 | g.43338710G>A | CA417417995 | MPL | c.381G>A (p.Val127=) c.360G>A (p.Val120=) n.381G>A c.552G>A (p.Val184=) | |
1 | g.43338710G>C | CA417417997 | MPL | c.381G>C (p.Val127=) c.360G>C (p.Val120=) n.381G>C c.552G>C (p.Val184=) | |
1 | g.43338710G>T | CA417418000 | MPL | c.381G>T (p.Val127=) c.360G>T (p.Val120=) n.381G>T c.552G>T (p.Val184=) | gnomAD v4 |
1 | g.43338711G>A | CA339974070 | MPL | c.382G>A (p.Asp128Asn) c.361G>A (p.Asp121Asn) n.382G>A c.553G>A (p.Asp185Asn) | dbSNP |
1 | g.43338711G>C | CA339974073 | MPL | c.382G>C (p.Asp128His) c.361G>C (p.Asp121His) n.382G>C c.553G>C (p.Asp185His) | |
1 | g.43338711G= | CA1143460260 | MPL | c.382G= (p.Asp128=) c.361G= (p.Asp121=) n.382G= c.553G= (p.Asp185=) | |
1 | g.43338711G>T | CA806644 | MPL | c.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 |
1 | g.43338712A>C | CA339974078 | MPL | c.383A>C (p.Asp128Ala) c.362A>C (p.Asp121Ala) n.383A>C c.554A>C (p.Asp185Ala) | |
1 | g.43338712A>G | CA339974085 | MPL | c.383A>G (p.Asp128Gly) c.362A>G (p.Asp121Gly) n.383A>G c.554A>G (p.Asp185Gly) | |
1 | g.43338712A>T | CA339974081 | MPL | c.383A>T (p.Asp128Val) c.362A>T (p.Asp121Val) n.383A>T c.554A>T (p.Asp185Val) | |
1 | g.43338713C>A | CA339974089 | MPL | c.384C>A (p.Asp128Glu) c.363C>A (p.Asp121Glu) n.384C>A c.555C>A (p.Asp185Glu) | |
1 | g.43338713C>G | CA339974091 | MPL | c.384C>G (p.Asp128Glu) c.363C>G (p.Asp121Glu) n.384C>G c.555C>G (p.Asp185Glu) | gnomAD v4 |
1 | g.43338713C>T | CA417418021 | MPL | c.384C>T (p.Asp128=) c.363C>T (p.Asp121=) n.384C>T c.555C>T (p.Asp185=) |