Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
1 | g.43338714A>C | CA339974099 | MPL | c.385A>C (p.Ser129Arg) c.364A>C (p.Ser122Arg) n.385A>C c.556A>C (p.Ser186Arg) | |
1 | g.43338714A>G | CA339974101 | MPL | c.385A>G (p.Ser129Gly) c.364A>G (p.Ser122Gly) n.385A>G c.556A>G (p.Ser186Gly) | |
1 | g.43338714A>T | CA339974102 | MPL | c.385A>T (p.Ser129Cys) c.364A>T (p.Ser122Cys) n.385A>T c.556A>T (p.Ser186Cys) | |
1 | g.43338715G>A | CA339974106 | MPL | c.386G>A (p.Ser129Asn) c.365G>A (p.Ser122Asn) n.386G>A c.557G>A (p.Ser186Asn) | dbSNP |
1 | g.43338715G>C | CA339974109 | MPL | c.386G>C (p.Ser129Thr) c.365G>C (p.Ser122Thr) n.386G>C c.557G>C (p.Ser186Thr) | gnomAD v4 |
1 | g.43338715G>T | CA339974111 | MPL | c.386G>T (p.Ser129Ile) c.365G>T (p.Ser122Ile) n.386G>T c.557G>T (p.Ser186Ile) | |
1 | g.43338717_43338718del | CA2740090653 | MPL | c.388_389del (p.Val130ArgfsTer?) c.367_368del (p.Val123ArgfsTer?) n.388_389del c.559_560del (p.Val187ArgfsTer?) | ClinVar |
1 | g.43338716T>A | CA339974114 | MPL | c.387T>A (p.Ser129Arg) c.366T>A (p.Ser122Arg) n.387T>A c.558T>A (p.Ser186Arg) | |
1 | g.43338716T>C | CA417418049 | MPL | c.387T>C (p.Ser129=) c.366T>C (p.Ser122=) n.387T>C c.558T>C (p.Ser186=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.43338716T>G | CA339974116 | MPL | c.387T>G (p.Ser129Arg) c.366T>G (p.Ser122Arg) n.387T>G c.558T>G (p.Ser186Arg) | |
1 | g.43338716T= | CA1165576106 | MPL | c.387T= (p.Ser129=) c.366T= (p.Ser122=) n.387T= c.558T= (p.Ser186=) | |
1 | g.43338717G>A | CA339974119 | MPL | c.388G>A (p.Val130Ile) c.367G>A (p.Val123Ile) n.388G>A c.559G>A (p.Val187Ile) | dbSNP |
1 | g.43338717G>C | CA339974121 | MPL | c.388G>C (p.Val130Leu) c.367G>C (p.Val123Leu) n.388G>C c.559G>C (p.Val187Leu) | |
1 | g.43338717G>T | CA339974123 | MPL | c.388G>T (p.Val130Leu) c.367G>T (p.Val123Leu) n.388G>T c.559G>T (p.Val187Leu) | |
1 | g.43338718T>A | CA339974126 | MPL | c.389T>A (p.Val130Glu) c.368T>A (p.Val123Glu) n.389T>A c.560T>A (p.Val187Glu) | |
1 | g.43338718T>C | CA339974130 | MPL | c.389T>C (p.Val130Ala) c.368T>C (p.Val123Ala) n.389T>C c.560T>C (p.Val187Ala) | |
1 | g.43338718T>G | CA339974129 | MPL | c.389T>G (p.Val130Gly) c.368T>G (p.Val123Gly) n.389T>G c.560T>G (p.Val187Gly) | |
1 | g.43338719A= | CA1165576107 | MPL | c.390A= (p.Val130=) c.369A= (p.Val123=) n.390A= c.561A= (p.Val187=) | |
1 | g.43338719A>C | CA417418062 | MPL | c.390A>C (p.Val130=) c.369A>C (p.Val123=) n.390A>C c.561A>C (p.Val187=) | |
1 | g.43338719A>G | CA417418064 | MPL | c.390A>G (p.Val130=) c.369A>G (p.Val123=) n.390A>G c.561A>G (p.Val187=) | |
1 | g.43338719A>T | CA417418067 | MPL | c.390A>T (p.Val130=) c.369A>T (p.Val123=) n.390A>T c.561A>T (p.Val187=) | dbSNP |
1 | g.43338720G>A | CA339974135 | MPL | c.391G>A (p.Gly131Ser) c.370G>A (p.Gly124Ser) n.391G>A c.562G>A (p.Gly188Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43338720G>C | CA806645 | MPL | c.391G>C (p.Gly131Arg) c.370G>C (p.Gly124Arg) n.391G>C c.562G>C (p.Gly188Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.43338720G= | CA1165576108 | MPL | c.391G= (p.Gly131=) c.370G= (p.Gly124=) n.391G= c.562G= (p.Gly188=) | |
1 | g.43338720G>T | CA339974139 | MPL | c.391G>T (p.Gly131Cys) c.370G>T (p.Gly124Cys) n.391G>T c.562G>T (p.Gly188Cys) | |
1 | g.43338721G>A | CA339974145 | MPL | c.391+1G>A (n.391+1G>A) c.370+1G>A (n.370+1G>A) n.391+1G>A c.562+1G>A (n.562+1G>A) | dbSNP |
1 | g.43338721G>C | CA339974150 | MPL | c.391+1G>C (n.391+1G>C) c.370+1G>C (n.370+1G>C) n.391+1G>C c.562+1G>C (n.562+1G>C) | |
1 | g.43338721G>T | CA339974153 | MPL | c.391+1G>T (n.391+1G>T) c.370+1G>T (n.370+1G>T) n.391+1G>T c.562+1G>T (n.562+1G>T) | |
1 | g.43338722T>A | CA339974156 | MPL | c.391+2T>A (n.391+2T>A) c.370+2T>A (n.370+2T>A) n.391+2T>A c.562+2T>A (n.562+2T>A) | |
1 | g.43338722T>C | CA339974159 | MPL | c.391+2T>C (n.391+2T>C) c.370+2T>C (n.370+2T>C) n.391+2T>C c.562+2T>C (n.562+2T>C) | |
1 | g.43338722T>G | CA339974161 | MPL | c.391+2T>G (n.391+2T>G) c.370+2T>G (n.370+2T>G) n.391+2T>G c.562+2T>G (n.562+2T>G) | dbSNP |
1 | g.43338722T= | CA1165576109 | MPL | c.391+2T= (n.391+2T=) c.370+2T= (n.370+2T=) n.391+2T= c.562+2T= (n.562+2T=) | |
1 | g.43338723_43338726dup | CA2645222460 | MPL | c.391+3_391+6dup (n.391+3_391+6dup) c.370+3_370+6dup (n.370+3_370+6dup) n.391+3_391+6dup c.562+3_562+6dup (n.562+3_562+6dup) | gnomAD v4 |
1 | g.43338725G>C | CA806646 | MPL | c.391+5G>C (n.391+5G>C) c.370+5G>C (n.370+5G>C) n.391+5G>C c.562+5G>C (n.562+5G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43338725G= | CA1165576110 | MPL | c.391+5G= (n.391+5G=) c.370+5G= (n.370+5G=) n.391+5G= c.562+5G= (n.562+5G=) | |
1 | g.43338727G>A | CA806647 | MPL | c.391+7G>A (n.391+7G>A) c.370+7G>A (n.370+7G>A) n.391+7G>A c.562+7G>A (n.562+7G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43338727G= | CA1143501810 | MPL | c.391+7G= (n.391+7G=) c.370+7G= (n.370+7G=) n.391+7G= c.562+7G= (n.562+7G=) | |
1 | g.43338728C>T | CA2645222473 | MPL | c.391+8C>T (n.391+8C>T) c.370+8C>T (n.370+8C>T) n.391+8C>T c.562+8C>T (n.562+8C>T) | gnomAD v4 |
1 | g.43338730A>C | CA2695806983 | MPL | c.391+10A>C (n.391+10A>C) c.370+10A>C (n.370+10A>C) n.391+10A>C c.562+10A>C (n.562+10A>C) | dbSNP |
1 | g.43338732C>T | CA2645222475 | MPL | c.391+12C>T (n.391+12C>T) c.370+12C>T (n.370+12C>T) n.391+12C>T c.562+12C>T (n.562+12C>T) | gnomAD v4 |
1 | g.43338733C>A | CA2645222478 | MPL | c.391+13C>A (n.391+13C>A) c.370+13C>A (n.370+13C>A) n.391+13C>A c.562+13C>A (n.562+13C>A) | gnomAD v4 |
1 | g.43338733C= | CA1165576111 | MPL | c.391+13C= (n.391+13C=) c.370+13C= (n.370+13C=) n.391+13C= c.562+13C= (n.562+13C=) | |
1 | g.43338733C>T | CA806648 | MPL | c.391+13C>T (n.391+13C>T) c.370+13C>T (n.370+13C>T) n.391+13C>T c.562+13C>T (n.562+13C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43338735C>A | CA2571238222 | MPL | c.391+15C>A (n.391+15C>A) c.370+15C>A (n.370+15C>A) n.391+15C>A c.562+15C>A (n.562+15C>A) | |
1 | g.43338735C>T | CA2645222482 | MPL | c.391+15C>T (n.391+15C>T) c.370+15C>T (n.370+15C>T) n.391+15C>T c.562+15C>T (n.562+15C>T) | gnomAD v4 |
1 | g.43338736C>G | CA2645222483 | MPL | c.391+16C>G (n.391+16C>G) c.370+16C>G (n.370+16C>G) n.391+16C>G c.562+16C>G (n.562+16C>G) | gnomAD v4 |
1 | g.43338737T>C | CA2645222485 | MPL | c.391+17T>C (n.391+17T>C) c.370+17T>C (n.370+17T>C) n.391+17T>C c.562+17T>C (n.562+17T>C) | gnomAD v4 |
1 | g.43338738G>A | CA806649 | MPL | c.391+18G>A (n.391+18G>A) c.370+18G>A (n.370+18G>A) n.391+18G>A c.562+18G>A (n.562+18G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.43338738G>C | CA2695534443 | MPL | c.391+18G>C (n.391+18G>C) c.370+18G>C (n.370+18G>C) n.391+18G>C c.562+18G>C (n.562+18G>C) | dbSNP |
1 | g.43338738G= | CA1165576112 | MPL | c.391+18G= (n.391+18G=) c.370+18G= (n.370+18G=) n.391+18G= c.562+18G= (n.562+18G=) | |
1 | g.43338738G>T | CA1139768749 | MPL | c.391+18G>T (n.391+18G>T) c.370+18G>T (n.370+18G>T) n.391+18G>T c.562+18G>T (n.562+18G>T) | |
1 | g.43338739T>C | CA2740090654 | MPL | c.391+19T>C (n.391+19T>C) c.370+19T>C (n.370+19T>C) n.391+19T>C c.562+19T>C (n.562+19T>C) | ClinVar |
1 | g.43338739T>G | CA2645222491 | MPL | c.391+19T>G (n.391+19T>G) c.370+19T>G (n.370+19T>G) n.391+19T>G c.562+19T>G (n.562+19T>G) | ClinVar gnomAD v4 |
1 | g.43338741A= | CA1165576113 | MPL | c.391+21A= (n.391+21A=) c.370+21A= (n.370+21A=) n.391+21A= c.562+21A= (n.562+21A=) | |
1 | g.43338741A>C | CA1165576114 | MPL | c.391+21A>C (n.391+21A>C) c.370+21A>C (n.370+21A>C) n.391+21A>C c.562+21A>C (n.562+21A>C) | dbSNP |
1 | g.43338742C= | CA1165576115 | MPL | c.391+22C= (n.391+22C=) c.370+22C= (n.370+22C=) n.391+22C= c.562+22C= (n.562+22C=) | |
1 | g.43338742C>T | CA1165576116 | MPL | c.391+22C>T (n.391+22C>T) c.370+22C>T (n.370+22C>T) n.391+22C>T c.562+22C>T (n.562+22C>T) | dbSNP |
1 | g.43338743C>T | CA2743377648 | MPL | c.391+23C>T (n.391+23C>T) c.370+23C>T (n.370+23C>T) n.391+23C>T c.562+23C>T (n.562+23C>T) | |
1 | g.43338744C>T | CA2645222495 | MPL | c.391+24C>T (n.391+24C>T) c.370+24C>T (n.370+24C>T) n.391+24C>T c.562+24C>T (n.562+24C>T) | gnomAD v4 |
1 | g.43338752_43338767del | CA2645222493 | MPL | c.391+32_391+47del (n.391+32_391+47del) c.370+32_370+47del (n.370+32_370+47del) n.391+32_391+47del c.562+32_562+47del (n.562+32_562+47del) | gnomAD v4 |
1 | g.43338746G>A | CA2695806985 | MPL | c.391+26G>A (n.391+26G>A) c.370+26G>A (n.370+26G>A) n.391+26G>A c.562+26G>A (n.562+26G>A) | dbSNP |
1 | g.43338746G>C | CA2695807008 | MPL | c.391+26G>C (n.391+26G>C) c.370+26G>C (n.370+26G>C) n.391+26G>C c.562+26G>C (n.562+26G>C) | dbSNP |