Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.43338136G>A | CA417416610 | MPL | c.117G>A (p.Lys39=) c.96G>A (p.Lys32=) n.117G>A c.288G>A (p.Lys96=) | |
1 | g.43338136G>C | CA339972642 | MPL | c.117G>C (p.Lys39Asn) c.96G>C (p.Lys32Asn) n.117G>C c.288G>C (p.Lys96Asn) | dbSNP |
1 | g.43338136G= | CA1140466583 | MPL | c.117G= (p.Lys39=) c.96G= (p.Lys32=) n.117G= c.288G= (p.Lys96=) | |
1 | g.43338136G>T | CA123787 | MPL | c.117G>T (p.Lys39Asn) c.96G>T (p.Lys32Asn) n.117G>T c.288G>T (p.Lys96Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43338137T>A | CA339972645 | MPL | c.118T>A (p.Cys40Ser) c.97T>A (p.Cys33Ser) n.118T>A c.289T>A (p.Cys97Ser) | gnomAD v4 |
1 | g.43338137T>C | CA339972648 | MPL | c.118T>C (p.Cys40Arg) c.97T>C (p.Cys33Arg) n.118T>C c.289T>C (p.Cys97Arg) | |
1 | g.43338137T>G | CA339972647 | MPL | c.118T>G (p.Cys40Gly) c.97T>G (p.Cys33Gly) n.118T>G c.289T>G (p.Cys97Gly) | |
1 | g.43338138G>A | CA339972651 | MPL | c.119G>A (p.Cys40Tyr) c.98G>A (p.Cys33Tyr) n.119G>A c.290G>A (p.Cys97Tyr) | |
1 | g.43338138G>C | CA339972656 | MPL | c.119G>C (p.Cys40Ser) c.98G>C (p.Cys33Ser) n.119G>C c.290G>C (p.Cys97Ser) | |
1 | g.43338138G>T | CA339972653 | MPL | c.119G>T (p.Cys40Phe) c.98G>T (p.Cys33Phe) n.119G>T c.290G>T (p.Cys97Phe) | |
1 | g.43338139T>A | CA339972659 | MPL | c.120T>A (p.Cys40Ter) c.99T>A (p.Cys33Ter) n.120T>A c.291T>A (p.Cys97Ter) | |
1 | g.43338139T>C | CA806580 | MPL | c.120T>C (p.Cys40=) c.99T>C (p.Cys33=) n.120T>C c.291T>C (p.Cys97=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43338139T>G | CA339972661 | MPL | c.120T>G (p.Cys40Trp) c.99T>G (p.Cys33Trp) n.120T>G c.291T>G (p.Cys97Trp) | |
1 | g.43338139T= | CA1148568607 | MPL | c.120T= (p.Cys40=) c.99T= (p.Cys33=) n.120T= c.291T= (p.Cys97=) | |
1 | g.43338140T>A | CA339972665 | MPL | c.121T>A (p.Phe41Ile) c.100T>A (p.Phe34Ile) n.121T>A c.292T>A (p.Phe98Ile) | |
1 | g.43338140T>C | CA806581 | MPL | c.121T>C (p.Phe41Leu) c.100T>C (p.Phe34Leu) n.121T>C c.292T>C (p.Phe98Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.43338140T>G | CA339972667 | MPL | c.121T>G (p.Phe41Val) c.100T>G (p.Phe34Val) n.121T>G c.292T>G (p.Phe98Val) | |
1 | g.43338140T= | CA1165575884 | MPL | c.121T= (p.Phe41=) c.100T= (p.Phe34=) n.121T= c.292T= (p.Phe98=) | |
1 | g.43338141T>A | CA339972670 | MPL | c.122T>A (p.Phe41Tyr) c.101T>A (p.Phe34Tyr) n.122T>A c.293T>A (p.Phe98Tyr) | |
1 | g.43338141T>C | CA339972671 | MPL | c.122T>C (p.Phe41Ser) c.101T>C (p.Phe34Ser) n.122T>C c.293T>C (p.Phe98Ser) | |
1 | g.43338141T>G | CA339972673 | MPL | c.122T>G (p.Phe41Cys) c.101T>G (p.Phe34Cys) n.122T>G c.293T>G (p.Phe98Cys) | |
1 | g.43338142C>A | CA339972675 | MPL | c.123C>A (p.Phe41Leu) c.102C>A (p.Phe34Leu) n.123C>A c.294C>A (p.Phe98Leu) | gnomAD v4 |
1 | g.43338142C>G | CA339972677 | MPL | c.123C>G (p.Phe41Leu) c.102C>G (p.Phe34Leu) n.123C>G c.294C>G (p.Phe98Leu) | |
1 | g.43338142C>T | CA417416618 | MPL | c.123C>T (p.Phe41=) c.102C>T (p.Phe34=) n.123C>T c.294C>T (p.Phe98=) | |
1 | g.43338143T>A | CA339972680 | MPL | c.124T>A (p.Ser42Thr) c.103T>A (p.Ser35Thr) n.124T>A c.295T>A (p.Ser99Thr) | |
1 | g.43338143T>C | CA339972682 | MPL | c.124T>C (p.Ser42Pro) c.103T>C (p.Ser35Pro) n.124T>C c.295T>C (p.Ser99Pro) | |
1 | g.43338143T>G | CA339972684 | MPL | c.124T>G (p.Ser42Ala) c.103T>G (p.Ser35Ala) n.124T>G c.295T>G (p.Ser99Ala) | |
1 | g.43338144C>A | CA339972687 | MPL | c.125C>A (p.Ser42Tyr) c.104C>A (p.Ser35Tyr) n.125C>A c.296C>A (p.Ser99Tyr) | |
1 | g.43338144C>G | CA339972691 | MPL | c.125C>G (p.Ser42Cys) c.104C>G (p.Ser35Cys) n.125C>G c.296C>G (p.Ser99Cys) | |
1 | g.43338144C>T | CA339972689 | MPL | c.125C>T (p.Ser42Phe) c.104C>T (p.Ser35Phe) n.125C>T c.296C>T (p.Ser99Phe) | gnomAD v4 |
1 | g.43338145C>A | CA417416620 | MPL | c.126C>A (p.Ser42=) c.105C>A (p.Ser35=) n.126C>A c.297C>A (p.Ser99=) | dbSNP |
1 | g.43338145C= | CA1165575885 | MPL | c.126C= (p.Ser42=) c.105C= (p.Ser35=) n.126C= c.297C= (p.Ser99=) | |
1 | g.43338145C>G | CA417416621 | MPL | c.126C>G (p.Ser42=) c.105C>G (p.Ser35=) n.126C>G c.297C>G (p.Ser99=) | |
1 | g.43338145C>T | CA417416622 | MPL | c.126C>T (p.Ser42=) c.105C>T (p.Ser35=) n.126C>T c.297C>T (p.Ser99=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.43338146C>A | CA417416623 | MPL | c.127C>A (p.Arg43=) c.106C>A (p.Arg36=) n.127C>A c.298C>A (p.Arg100=) | |
1 | g.43338146C= | CA1142239899 | MPL | c.127C= (p.Arg43=) c.106C= (p.Arg36=) n.127C= c.298C= (p.Arg100=) | |
1 | g.43338146C>G | CA339972693 | MPL | c.127C>G (p.Arg43Gly) c.106C>G (p.Arg36Gly) n.127C>G c.298C>G (p.Arg100Gly) | |
1 | g.43338146C>T | CA806582 | MPL | c.127C>T (p.Arg43Ter) c.106C>T (p.Arg36Ter) n.127C>T c.298C>T (p.Arg100Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43338147G>A | CA806583 | MPL | c.128G>A (p.Arg43Gln) c.107G>A (p.Arg36Gln) n.128G>A c.299G>A (p.Arg100Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43338147G>C | CA339972700 | MPL | c.128G>C (p.Arg43Pro) c.107G>C (p.Arg36Pro) n.128G>C c.299G>C (p.Arg100Pro) | dbSNP |
1 | g.43338147G= | CA1142209113 | MPL | c.128G= (p.Arg43=) c.107G= (p.Arg36=) n.128G= c.299G= (p.Arg100=) | |
1 | g.43338147G>T | CA339972702 | MPL | c.128G>T (p.Arg43Leu) c.107G>T (p.Arg36Leu) n.128G>T c.299G>T (p.Arg100Leu) | |
1 | g.43338148A>C | CA417416624 | MPL | c.129A>C (p.Arg43=) c.108A>C (p.Arg36=) n.129A>C c.300A>C (p.Arg100=) | |
1 | g.43338148A>G | CA417416625 | MPL | c.129A>G (p.Arg43=) c.108A>G (p.Arg36=) n.129A>G c.300A>G (p.Arg100=) | |
1 | g.43338148A>T | CA417416626 | MPL | c.129A>T (p.Arg43=) c.108A>T (p.Arg36=) n.129A>T c.300A>T (p.Arg100=) | |
1 | g.43338149A>C | CA339972705 | MPL | c.130A>C (p.Thr44Pro) c.109A>C (p.Thr37Pro) n.130A>C c.301A>C (p.Thr101Pro) | |
1 | g.43338149A>G | CA339972707 | MPL | c.130A>G (p.Thr44Ala) c.109A>G (p.Thr37Ala) n.130A>G c.301A>G (p.Thr101Ala) | |
1 | g.43338149A>T | CA339972710 | MPL | c.130A>T (p.Thr44Ser) c.109A>T (p.Thr37Ser) n.130A>T c.301A>T (p.Thr101Ser) | |
1 | g.43338150C>A | CA339972715 | MPL | c.131C>A (p.Thr44Lys) c.110C>A (p.Thr37Lys) n.131C>A c.302C>A (p.Thr101Lys) | |
1 | g.43338150C= | CA1165575886 | MPL | c.131C= (p.Thr44=) c.110C= (p.Thr37=) n.131C= c.302C= (p.Thr101=) |